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The differentiation of pulmonic stenosis, ventricular septal defect with normal aortic root from tetralogy of Fallot
The differentiation ventricular from
of pulmonic
septal
tetralogy
defect
with
stenosis, normal
aortic
root
of Fallot
Robert Rosenblum, M.B. Herbert Mark, M.D. Doris J. W. Escher, M.D. Wilhelm Z. Stern, M.D. Dennison Young, M.D. New York, N. I’.
allot, in 1888, described and correlated the clinical-pathological findings of the cyanotic congenital cardiac abnormality of pulmonic stenosis, interventricular septal defect, enlarged right ventricle, and overriding aortic root. Sixty years later the physiology of this congenital cardiac defect was clarified by studies which made use of the cardiac catheter.2-4 It was also recognized that not all patients with tetralogy of Fallot were clinically cyanotic.5 Several authors have distinguished between pulmonic stenosis (PS), ventricular septal defect (LSD) with overriding aorta and PS,VSD with normal aortic root.5-S In recent years, however, there has been an attempt to classify all ventricular septal defects with narrowing of the right ventricular outflow tract, whether infundibular and/or valvular PS, as being within of the same lesion.g-l’ one spectrum The purpose of this paper is to document the thesis that there are two distinct entities, both with acyanotic and cyanotic components, which are, clinically and physiologically, distinguishable: (1) PS,VSD with
Keceived
746
ior
publication
March
3. 1962.
partially transposed aorta or overriding aortic root (tetralogy of Fallot), and (2) PS,VSD with normal aortic root. Materials
and
methods
This study is an analysis of the clinical and laboratory data of patients with pulmonic valvular and/or infundibular stenosis, with ventricular septal defects, whose right ventricular pressures are at least equal to the systemic pressure. There are 17 patients with overriding aortic root and 18 with normal aortic root. No attempt at selection was made other than to choose patients whose data for analysis were available in as many parameters as possible. Surgical and/or postmortem data are presented when available. Postmortem examination was obtained in all patients who died. All patients were studied by the technique of catheterization of the right side of the heart. The blood oxygen saturations were obtained by the Waters-Conley oximeter and/or by the manometric method of Van Slyke and Neill. Intracardiac pressures were recorded using Statham strain-
Diferentiation
of PS, VSD with normal aortic root from TF
gauge transducers and the Electronics for Medicine photographic recorder. A few recordings were made on the Sanborn two-channel direct-writer. The pressures and oxygen saturations in the right ventricle and systemic artery were not all obtained simultaneously. Angiocardiograms were recorded by the Elema-Schonander biplane film changer, and using
747
the Gitlund injector for the intracardiac injections of contrast media. All injections were made selectively into the outflow portion of the right ventricIe unIess otherwise specified. The murmurs are described by intensity, location, and duration; the classification of Leatham12 is employed. The clinical auscultation was correlated with phono-
displaced aorta in Fallot’s tetralogy (Patient Fig. 1. A, Left lateral angiocardiogram shows a wide, anteriorly 1t.C.). B, The photograph on the left shows greater density and earlier filling of the aorta and partially tmnsposed aortic root; that on the right shows a \vide base and ascending portion of aorta and small pulmonar) nrteries (Patient K.C.).
74x
Kosenblum,
Mark,
Am. Hcavt 1. Dccrmber, 1961
Escher, Stern, and Young
Table IA. Tetralogy of Fallot sex
Cyanotic
2
F
Yes
Poor
D.J.
28
F
0
Normal
C.S. J.N.
9 30
M M
Yes Yes
Normal Normal
Systolic 0
R.C. S.S.
4 16 mo.
F F
Yes Yes
Small Small
Systolic, None
iVame
/
A@
K.B.J.
i
I
Growth
Thrills
~ 4th
Sozlnds
ICS
Single
2nd
Single
2nd
Single
2nd
PI diminished Loud single 2nd Single 2nd
3-4 ICS
MS.
3
F
Yes
Normal
Systolic, pulmonar) area
Single 2nd
M.O.
9
M
Slightly
Normal
Systolic, 2-3 ICS
Single 2nd
26
F
Xt times
Normal
Systolic, LSE
PS diminished
E.F.
5
F
Yes
Normal
?_:
Single 2nd
B.J. D.H.
5 8
M Ia
Yes Yes
Normal Poor
2nd ICS 0
Single 2nd Single 2nd
I.A.
C.C.
18 mo.
M
0
Poor
Systolic, pulmonar) area
Single 2nd
R.M. D.E. F.M.
1.5 mo. 30 7
M M M
Yes Yes
Poor Normal Poor
Systolic 0 0
Single 2nd Single 2nd Single 2nd
21
F
SlightI)
Normal
0
Single 2nd
J.M.W.
ICS:
Intercostal
space.
LSE:
Left
sternal
edge.
RAD:
Right
axillary
cardiograms when possible. Standard twelve-lead electrocardiograms and Lead VBR were analyzed.14-‘g An A wave in the right atria1 tracing was considered to be dominant when it was 4 mm. above the V wave and had a rapid X descent. Results Tables IA, IB, IC, and IIA, IIB, IIC summarize the data in the two groups of patients. The important feature that distinguishes the two entities is the hyperdynamic left ventricle in the group with the normal aortic root. Tetralogy of Fallot. The findings in Fallot’s tetralogy are well known,6~13~17~18~20~21 but certain observations should be emphasized: (1) Patients with tetralogy of Fallot have normal-sized or small hearts, which do not show progressive enlargement with time; there are no progressive changes in
deviation.
RVH
and LVH:
Right
and
left ventricular
hypertrophy.
the electrocardiogram of these patients after infancy, and cardiac failure is uniformly absent. (2) A dominant A wave does not occur in this group.6j17 (3) There is little or no evidence of a left-to-right shunt at the ventricular level, and the pulmonary arterial pressures are either normal or below normal. In our experience with selective angiocardiograms with rapid injection of the dye into the outflow tract of the right ventricle, the large aortic root can usually be seen to fill earlier than, or at least simultaneously with, and to have a density equal to, the pulmonary artery. In most cases the dextraposed origin of the aorta is usually recognized (Fig. 1). A small pulmonary artery is sometimes noted but not consistently enough to be of diagnostic value. Postoperatively, the Fallot heart con-
Diflerentiation
of PS, VSD with normal aortic root from
I
I ECG
I Grade
3 harsh
Grade
2 systolic,
Ejection Systolic,
3rd
systolic, 4th ICS
Grade Grade Short 2-3rd
systolic
2-4 ICS
RAD,
2nd ICS
2-3 systolic, 3-4th ICS 2 systolic, 2-3rd ICS Grade ICS
2 ejection
RAD, RAD,
systolic,
Grade
3, ejection
systolic,
Grade
3 systolic,
3rd ICS
2 ICS
RAD,
Right
atrium.
RV:
Right
sistently enlarges. Most due to the enlarging of the which receives a normal after corrective surgery (Fig. Pulmonic stenosis with
ventricle.
RAD, RAD,
RVH RVH
RAD, LVH
RVH,
RAD, Rr\D, R-AD,
RVH RVH RVH
R.%D,
RVH
PA:
I
Pulmonary
likely, this is left ventricle, flow of blood 2).
interventricular septal defect with normal aortic root. Anatomically, those with a normal aortic root fall into two categories (Table I IC). There are those who developed valvular pulmonic stenosis and interventricular septal defect in utero and often had an associated hypertrophy of the infundibular area (G.L., C.C., D.E., M.L.M., R.C., H.rl.). The majority of our patients were undoubtedly born with isolated ventricular septal defect and developed infundibulx hypertrophy months to years after birth, as reported by Gasul and associates.‘O In only S.G., R.C., and E.B. is there adequate clinical or cardiac catheter evidence for this mechanism (Fig. 3). R.C. and
X-ray
jilms
and/or
$uoroscopy
Normal-sized heart, clear lung fields, RX - ++, RV +, concave PA, “Coeur en sabot” Normal-sized heart, normal lung fields, R-1 - + , RV - + Normal-sized heart, lung fields clear, RV + Normal-sized heart, hypovascular lung fields, small P,4 Small heart, clear lung fields, RV + Normal-sized heart, clear lung fields, RA - +, RV+, “coeur en sabot” Small heart, small PA, ultra clear lung fields, RV-+
RVH
Vertical heart. Normal ECG RAD, RVH
Ejection systolic, pulmonary area, suggestive of holosystolic, 4th LSE. Continuous murmur at ductus area Grade 2 systolic, 2-3rd LSE Ejection systolic Small ejection systolic. Ejection click Eiection systolic. Grade 2-3, LSE
RA:
RVH RVH
RAD, RVH, RA enlarged
Harsh Grade 3 systolic, pulmonary area Ejection systolic, pulmonary area Ejection systolic, pulmonary area
respectively.
RVH
RAD, RVH, RA enlarged RAD, RVH RAD, RVH
LSE
749
1’F
Normal-sized RV f, slightly Normal-sized
heart, clear lung fields, prominent aorta heart, clear lung fields
RA
+,
Normal-sized heart, clear lung fields, small PA, RV - +, right aortic arch Small heart, clear lung fields, RV +, concave PA Normal-sized heart, clear lung fields, RA - +, RV +, “coeur en sabot,” concave PA Slightly enlarged heart, lung fields normal, L.4 ++, RV + , aorta wide Normal-sized heart, Normal-sized heart, Normal-sized heart, vascular, R\’ + Normal-sized heart, lature
lung fields clear, K\’ ++ lung fields normal, RV + lung fields slightly hyponormal
pulmonary
vascw
artery.
E.B., who had pulmonary valvular stenosis, also developed muscular hypertrophy of the outflow tract of the right ventricle with time2” (Fig. 4). The physical findings of ventricular septal defect with a left-to-right shunt, as well as pulmonic stenosis, were the features that distinguished the acyanotic patients with a normal aortic root from the minimally cyanotic or acJ.anotic patients with Fallot’s tetralogy. AAs in Fallot’s tetralogy, the sound of pulmonic closure is diminished or absent. Even in those patients with a significant increase in pulmonic flow, the pulmonic sound may be diminished (D.R., R.B., R.C., R.K., A.J., C.C., E.B.). In patients with balanced or right-to-left shunts the auscultatory findings may be indistinguishable from those in patients of the Fallot group. There are, however, other indices that
750
Kosenblum,
Mark,
Am. Hrart J. Dcccmbcr, 1962
Escher, Stern, and Young
Table IB. Tetralogy of Fallot !
I Name
Age
Sex
svc (76 Sat.)
IVC (7; , Sat.)
F
68
67
Right atrium _ ______
Right
I
ventricle
I K.B.J.
4
2
10
8
88/8
67
16/10
67
90/o
64
20/10
130/73
84
67
79/47
92
50 50 at
90/59 120/74 110/77
65 77 81
48 50
100/5 92/73
71 76
D.J.
28
F
60
C.S. J.N. R.C.
9 30 4
M M F
52 49 51
49 48 67
6 8 6
4 6 3
61 50 62
96 0 128/Z 94/o
50 48 60
S.S. M.S.
16 mo. 3
F F
49
50 53
9
8
46 55
73/7 87/10
48 58
25/6 NE lS/? operation 12/Z 13/7
102/S
69
23/4
72
125/78
93
86/4 97/2
12/5 12/s
71
63
100/58 110/73
89 83
67
109/56 109,‘62 83/SO
84 83 87
M.O.
7
M
69
69
IA. E.F.
28 5
F F
66 57
66
B.J.
5 7 8
M
6.5 77
74
D.H. R.M. C.C. F.M.
M
15 mo. 18 mo. 7
M M M
69 67 51
J.M.W.
21
F
63
D.E.
30
M
SVC: Superior
vena cam. WC: Inferior
Rate 150 single wave 7 4 65 9 7 64 5 11
3 10
66
Rate 150 68 single wave 12 10 6.5 6 65 8 7
87/O 120/j 81/12
67 70
18/3 NE 9/Z
95/o 100/o 100/o
69 79 54
25/12 35/18 NE
65 85
lOlj64 100/45 105/65
90 97 68
72
5
3
64
123/7
69
14/5
68
115/78
85
9
6
52
120/5
50
NE
52
120/88
76
vena CBYP. Sat.: Saturation.
reveal the distinctive physiologic differences. Cardiac fluoroscopy or x-ray examination usually demonstrated the evidence of a hyperdynamic left ventricle by the presence of an enlarged left ventricle and/or left atrium. Almost uniformly the over-all size of the heart is enlarged (Figs. 3 and 5). The angiocardiograms in patients with a normal aortic root usually demonstrate earlier filling of the pulmonary artery and show a greater density of the contrast medium in the pulmonary artery than in the aorta (Fig. 6). Even when the flow through the ventricular shunt is right to left, the pulmonary artery fills with greater contrast than the aorta (Fig. 7). The aortic root is relatively comparable in
A: Atrial ,1 WBY~. V: Atria1 5’ wave. S/D: Systolic
over diastolic.
size to its more distal portion and arch, in contrast to the marked discrepancy in size in patients with Fallot’s tetralogy. The aorta in the lateral view is in its normal position, posterior to the pulmonary artery (Fig. 7). Often the pulmonary artery and its branches are unusually well developed. Left atria1 enlargement can frequently be seen on the angiocardiogram (Fig. 8). The finding of large diphasic complexes in the electrocardiogram often is one of the distinguishing features that separates the normal-root entity from Fallot’s tetralogy (Fig. 9). In addition, although several patients presented the findings of isolated pulmonic stenosis, the electrocardiographic
Diferentiation
Aorta
Left
ventricle
of PS, VSD with normal aortic root from TF
751
Left atviunt Angiocardiogram
S/D
Sat. (%I
82/57
118/80
PW:
Pulmonary
;$&&
93/l
79
100/o
87
Simultaneous filling of aorta and pulmonary artery. Dextroposed aorta and wide base. Jet from RV to aorta seen Aorta slightly wider than normal and (?) dextroposed. Venous angiocardiogram Marked dextroposed aorta None Simultaneous filling of aorta and pulmonary artery. \I:ide dextroposed aorta None Slow injection, PA fills earlier than aorta; aorta anterior to normal location and wide at base. Valvular stenosis Venous angiocardiogram, wide aortic base and dextroposed aorta, PA fills before aorta None Venous angiocardiogram, early and simultaneous filling of aorta and pulmonary artery Simultaneous filling of aorta and pulmonary artery. Dextroposed aorta None
86
Catheterization
108/3 1 95/70
S,D;
performed
69
on 100%
oxygen
10
PW
PA:
Pulmonary
97
wedge.
NE:
Not
entered.
99 94
None None PA and aorta filled simultaneous; large aortic root, anterior position of aorta, suggestive of infundibular stenosis, injection into right atrium PA fills before aorta; LV fills from RV. A40rtic root slightly wider than normal Simultaneous filling of pulmonary artery and aorta. Aorta wide and somewhat transposed. Pulmonary valvular stenosis. Suggestion of infundibular stenosis
artery
evidence of left as well as of right ventricular hypertrophy as suggested by the diphasic complexes in the precordial leads (H.A., W.F., J.B.), (Fig. 10) pointed to an associated ventricular septal defect. A dominant A wave was seen in 9 of the 11 patients with a normal root who had normal pulmonary arterial pressures, and in 2 of the 5 with increased pressures in the pulmonary artery (Fig. 11). Data were not available in 2 patients. Adequate information is not available to explain the differences in the A waves between the patients with Fallot’s tetralogy and those with a normal aortic root. Acyanotic or minimally cyanotic adults with Fallot’s tetralogy were the most
difficult to classify. D.J. and J.M.W. fit the criteria for the diagnosis in this group, although in J.M.W. the aorta did not fill simultaneously with the pulmonary artery. The left ventricle of the patients in this group may not be hyperactive, but it is undoubtedly well developed because of the minimal degree of overriding. Postoperatively, the hearts of patients with a normal aortic root have not shown enlargement; however, neither have they shown a decrease in size. One factor is the relatively short time since operation, and another explanation in some patients may be the persistence or reopening of a ventricular septal defect. In 2 patients, repeat cardiac catheterization has demon-
752
Rosenblum,
Mark,
Escher, Stern, and Ibung
Table 1C. Tetralogy of Fallot
K.B. J
2
F
D.J.
28
F
C.S.
9
J.N.
30
hl
R.C.
1
F
S.S.
16 mo.
1cl
F
n1.s.
3
F
ihf .O.
9
hl
1.A.
F
20
E.F.
5
F
D.H.
8
M
R.M.
15 mo.
M
D.E. CC.
40 18mo.
M M
F.M.
7
M
B.J.
8
M
I’ulmor~ary valve stenosed, bicuspid valve; large RV, R&L\ enlarged, infundibulum narrowed, left x-entricle normal size Pulmonary vale-e stenosed, narrowed K\- outflow, I\‘SD entered between infundibular mass and pulmonary I-a!\-e
Pulmonary valve stenosed, muscular bands at R\ outflow, 2 cm. IVSD Pulmonary valve normal but arteq small. Infundibulum hypertrophied, no L\’ hypertrophy. Heart weighed 480 Gm. Pulmonary artery narrowed, hypertrophy of crista, right \;entric!e hypertrophied, and narrowed right ventricular outflow. LV not enlarged Pulmonaryartery narrowed, fused leaflets, right ventricular outflow narrowed, left ventricle not enlarged Pulmonary valve leaflets normal but pulmonar) artery and a~~nul~~s narrowed, muscular bands at crista area, right ventricle enlarged, LV not enlarged Pulmonaq~ valve stenosed, fibrous bands below valve, diaphragm of muscle at RV outflow. pulmonary artery- small, 1.5 cm. VSD Pulmonary valve slightly stenosed, bicuspid \-alvc, sex-ere infundibular stenosis, marked destroposition of aorta Pulmonary x-alve stenosed, fibrous obstruction of outflow of RV, pulmonary artery narrowed, rightsided aortic arch Pulmonary valve stenosed, infundibulum narrowed, small pulmonary artery Pulmonary valve stenosed, narrowed pulmonary artery. bicuspid pulmonary valve, infundibulum narrowed, RV enlarged, LA and LV normal. Heart weighed 65 Gm. Blalock procedure. RV enlarged Patent ductus arteriosus ligated, valvlllar pulmanic stenosis, moderate hyertrophied infundibular area, fibrotic bands at RV outflow tract, IVSD Pulmonary valve normal, patent ductus arterlosils, infuntlibulum hypertrophied, 1\5D Pulmonary vale-e normal, muscular bands at R\. outflow tract, lungs congested, over-all size of heart enlarged (weighed 100 Gm.), RV and I-\’ dilated, three defects in muscular ventricular septum
Died
postoperati\-el>
Postoperative cardiac failure. Huge heart. Residual IVSD repaired, with excellent clinical results, pulmonaq insufficiency murmur. Pulmonaq insufficiency proved by catheterization Heart enlarged. Pulmonary insufliciency murmur. A~\cl-anotic, we!! I lied postoperatix-el>
Heart
Died
enlarged.
Acyanotic,
we!!
postoperative15
Heart
enlarged.
Acqanotic,
well
Heart
enlarged.
Acyanotic,
well
Acyanotic,
Heart nary
well
enlarged. insufficienq..
Murmur of pulmo.Acptnotic, well
Heart enlarged, acyanotic, well, murmur of pulmonary insuficienq Ilied postoperativell-
Cyanotic, clinirally No change in heart we!!
improved size, acyanotic.
No change in heart size, VSD clinicall>-, acyanotic IXed postoperati\re!)
residual
Di’erentiation
Fig. 2. Tetralogy of Fallot operatively. Right: Larger
of PS, VSD with normal aortic root from
in Patient D.H. Left: Normal size of heart cardiac shadow 1 year postoperativrely.
Fig. 3. Above: Over-all enlarged heart, atrium in Patient S.G., 18 months old. enlargement of left atrium, and enlarged the changing conditions suggest progressive
pre-
hypervascular lungs, and large left Below: Normal lung fields, minimal heart in same patient, 35.5 yearsold; infundibular hypertrophy.
TF
7.53
754
Rosenblum,
Table IIA. Pulmonic Nanle G.L. D.E.
“lp 28 n10. 4
Mark,
Escher, Stern, and Young
stenosis, ventricular
s~.~ i
sepal defect with normab aortic root
Cyanotic
M
Yes
F
0
Grou,th
I
Thrills
Sounds
I
Diminished
Sormal
0
Normal
Prominent
left apex
P2
A? > P?
beat outside midcla\-icular line R.B.
14
F
Normal
Systolic prominent left apex
J.B.
12
RI
Normal
A.J.
6
F
Mentally
2;s
F
retarded Poor
cc.
17 mo
YI
S.G.
3 ;/;
F
E.B.
12
M
19 N.L.
beat
Systolic, 2-3rd LSE Systolic, 2%3rd LSE
Normal
4th
Poor
Systolic,
2nd LSE
0
Normal
Systolic, 2p3rd LSE
M
0
Normal
16
F
0
Normal
LV.F.
12
M
Slightly
Systolic, LSE Systolic, ICS Systolic,
R.C.
9?3
F
Syncope; Slightly
T.D.
6
M
0
Normal
54th LSE
along 2-3rd 3rd
Single
2nd
t’? diminished
Systolic, LSE Systolic,
M.L.M.
Normally split A2 > 1’2 Single 2nd
ICS
I’? diminished, delayed P2 diminished, delayed
Murmur obliterated 2nd sounds Pp diminished, delayed Single 2nd Single
2nd
Poor
Systolic, LSE
3-4th
P? diminished
Slightly
Systolic,
2nd LSE
Pz normal
SIOW
HA.
8
M
0
Small
\Videly systolic
R.K.
32
h2
0
Normal
0
V.T.
3%
M
Yes; clubbed
Normal
Systolic, LSE
J.B.
4
M
At times
Small
3rd LSE
Pp diminished,
3rd ICS, LSE
delayed Pz single
Y.D.
6 mo.
F
Yes
strated an interventricular septal defect, and in 3 other patients there is clinical evidence which strongly suggests a residual ventricular septal defect.23 Additional comment is indicated in W.F., whose right ventricular pressure exceeded systemic pressure by 88 mm. Hg at the time of cardiac catheterization and was confirmed with simultaneous pressure measurements at operation. The clinical evaluation, however, indicated a
distributed
P2 diminished
Ps diminished 3-4th
Pz diminished, delayed
ventricular septal defect as well as pulmanic stenosis. At operation, a ventricular septal defect, 1.5 cm in diameter, just below the hypertrophied crista, was repaired. Discussion The distinction between the two groups of patients is physiological and developmental. The circulatory dynamics of the tetralogy of Fallot are distinct from those
i.ol~tffle Number
61 6
Digerentiation
Murmurs 3 systolic,
4-ICS
Grade
3 systolic,
2-3rd
Grade
4 systolic,
3-LSE
ICS
Grade 3 holosystolic-diastolic at apes Grade 3 systolic, 2-4th ICS Grade
Enlarged R,4+-, Enlarged
RAD-RVH-LVH RAVF = 25 mm. RAD-RVH-LVH
Enlarged heart, concave PA-LA+, RV 2+ Normal-sized heart, RV-+, small aortic knob, normal lung fields Enlarged heart, lung fields clear, PA-+, LA-+, RV++, LV+ Enlarged heart, clear lung fields, concave PA segment, LA+, RV+ Enlarged heart, lung fields normal, RA+, LA+, RV++ 1957 - enlarged heart, hypervascular lungs, LA 3+, RV+ ; 1959-enlarged heart, normal lung fields, concave P& LApOpRV+ 1952-enlarged heart, prominence of PAA, LV+, increased pulmonary vasculature 1959-enlarged heart, increased pulmonary vasculature, LA+, RV+ Normal-sized heart, clear lung fields, RA+, RV+ Lung fields normal, heart enlarged
RAD-RVH
Ejection systolic 2nd ICS, holosystolic 3rd ICS Grade 3 holosystolic 2%3rd ICS suggestive of ejection component
RAD-RVH-LVH
Harsh
RAD-RVH
systolic and
ejection
systolic
Holosystolic Holosystolic,
RAD
RVH-probably RAD-RVH
3rd ICS
Holosystolic, 4th murmur at 2-%-d
RAD, RAVF 23.0 mm. RVH, suggestive of LVH Age 6-RAD-RVHLVH Age 9-RAD-RVH RVH-LVH
LSE-harsher LSE
Holosystolic Suggestion of harsh well as holosystolic
systolic
as
RAD-RVH-LVH
Grade 3 harsh systolic pulmonaq area Harsh systolic, holosystolic in type with suggestion of ejection type in pulmonary area Holosystolic and ejection systolic
RADPRVH
Harsh
RADPRVH-LVH
holocystolic,
3rd ICS
LSE
of the related entity with normal aortic root. The partial transposition or override of the aorta, with persistence of the right ventricle as a systemic ventricle coexistent with the left ventricle, explains the dynamics of tetralogy of Fallot. The right ventricle communicates directly with the systemic circulation, and, therefore, is directly affected by the systemic resistance as well as the resistance to flow at its outtlow tract or any changes that might take
LVH
heart, LA+-, heart,
jilms
RAD-R\:H RAVF = 30 mm. R.4D-RVH-LVH
RAD-RVH-L\‘H
3 holosystolic
Holosystolic
X-ray
ECG
Grade
755
of PS, VSD with normal aortic root from TF
clear R\‘+ RA+,
lung fields, , LV+ LA+
Heart enlarged, RV+, lung fields clear to slightly hypervascular. Pulmonary artery segment + Heart enlarged, small aortic knob, I,.\+, LV+, RV+ Heart enlarged, vascular markings normal. Dilatation of pulmonary artery RVf , LV, ) L,4-0 Normal-sized heart, normal lung fields, Ii\:+, aortic arch on right. Kyphoscoliosis Enlarged heart, R\‘+
Heart R\‘+ Clear
enlarged, lung
fields,
hypervascular globular
lung heart,
fields, RV+
place in the underfilled pulmonary vasculature.6J8J4,25 The left ventricle, therefore, never assumes its normal role and remains a relatively hypoplastic chamber or has a “petite volume” as described by Fallot. Tetralogy of Fallot is undoubtedly a single developmental anomaly, as emphasized by Spitze?’ and corroborated by studies of Kramer,28 and the greater the transposition, the greater is the severity of the narrowing of the outflow tract of the
7.56
Rosenblum,
Am. Hcovt .I. L,ccc>nbcr, 1’103
Mark, Escher, Stern, and Young
TabIe I IB. Pulmonic stenosis,ventricular scptal defect with normal
aortic root
I
I Pulmonary artery
Name
Age
i Systemic
artery
____-
-
S/D
Sat. (‘i; 1
Rate 120 G.L.
mo.
M
45
5.3
10
4
47
92/O
53
11/l
D.E.
4
F
70
76
6
4
69
86/5
86
G/17
R.B.
14
F
64
7
4
6.5
118/O
82
38/7
J.B.
10
RI
71
20
10
115/O
67
NE
A.J.
6
F
69
9
8
69
128/10
75
M.L.M.
2
F
74
78
7
3
73
88/O
75
x/21 OR 15/9
98/O
84
NE
61
81/2
65
17/9
55 72 81
108/O 107/O 112/s 100/o 208/3
69 84 92.5 78
28
67
55
73/40
72 98
79
121175 B 93/64 115/64
9-L
121/71
80-98
96/52
95
105/69
92
64
100/63
87-95
SO/S 19/9 68/14 16/10 12/l
69 84 94 80
127/85 105/60 130/65 77/58 120/80
95 99 98 98 82
104/57 87/S-1 103/48 B 110/60 110/70 110/52
93 98 98 94 9s 75-82
133/75
81
82
cc.
17 mo.
M
75
79
9
5
S.G.
34; (1959) 12 19 6 16 12
F
59
59
14
8
M
40 65 81 74
71 85 81
10 18
5 10 73
72 68
6 10 11
4 7 6
68 71
55/13 80/S 92/O
67 81 81
28/12 25/o 30/12
73 81 81 76 75 65
E.B. T.D. N.L. W.F.
M F M
R.C.
6 7 9j,$
F
72 76 67
R.K. H.A. V.T.
32 8 3p;
M M M
53 71 65
75
8 8 10
3 7 6
53 71 61
102/l 88/S 1 O3/ 7
74.5 75 65
15/S 16/6 25/9
J.B.
4%
M
64
70
10
8
61
123/13
70
NE
F
63
67
10
5
65
100/s
65
NE
pressure.
OR:
room
pressure.
abbreviations
see footnotes
Y.D.
6 mo.
B: Brachial
arterial
Operating
For
right ventricle and pulmonary artery. One concludes from the existing data that tetralogy of Fallot represents a variation in the spectrum of transposition and may represent persistence of a more primitive phylogenetic circulation.“’ The embryologic consideration in Fallot’s tetralogy has been reviewed by Edwards and associates.2g A comparison of the normal fetal circulation and the in utero circulation of the Fallot heart is diagrammed by Taussiglx
other
to Table
98
IB.
and clearly demonstrates the lack of circulatory stress on this heart in utero. At birth the resistance to flow at the right ventricular outflow tract is unchanged. As in utero, the right ventricle continues to supply blood to the systemic circuit via the “right ventricular aortic path” (Spitzer). *A Fallot heart is the same dynamically from its development to death and, in a way, really represents an extrauterine functioning of a fetal heart. If the true Fallot heart is associated
Diferentiation
Left
of PS, VSD with normal aortic root from TF
rrextriclr .4ngiocardiogmnr
PUIWIO-
102/75
98
110/67
95
757
PA tills before aorta, left shunt, VSD seen None
96/5
aorta
normal
in position
and
size, right-to-
No premature opacification of aorta, left-to-right shunt seen, aorta normal, large LA on angiocardiogram Early simultaneous filling of aorta but not so intense as that of PA; aorta normal, infundibular and valvular pulmonic stenosis; rightto-left shunt demonstrated Early filling of PA not aorta. Aorta normal, IVSD demonstrated PX fills before aorta. Bidirectional shunt seen, pulmonary valve and infundibulum stenosed, normal aorta on cineangiocardiogram Aorta normal, no premature filling, stenosis of pulmonary valve and infundibulum Normal aorta, no premature filling, infundibular stenosis, rightto-left shunt seen Aorta does not fill prematurely, normal aorta, stenosis of pulmonary valve and infundibulum-age 19 96 None Early filling of aorta, position, left-to-right
109/z
11 12
98
10
96/10
73
L.4 A= V=
77 11 8
but not so dense as that of PA, and normal shunt seen. Venous angiocardiogram
None
None Pulmonic valvular stenosis, normal position and size of aorta PA fills before aorta, infundibular stenosis, bidirectional shunt, cineangiocardiogram Aorta normal in position and size, bidirectional shunt seen, pulmonary valves normal, infundibular stenosis PA fills earlier than aorta. Aorta normal in position and size. IZV and LV enlarged. Infundibular stenosis and bidirectional shunt; cineangiocardiogram
with a patent ductus arteriosus or rightto-left shunt at the atria1 level,30 then a more normal or even increased flow to the left ventricle will be espected (F.M. and C.C.). These patients, clinically and physiologically, should be indistinguishable from those with a normal aortic root. A patent ductus arteriosus associated with a Fallot heart should be readily discernible by the continuous murmur; however, a clinical diagnosis was not made in F.M. prior to operation. In 10 autopsied pn-
tients with tetralogy of Fallot reported on by Brinton and Campbell,3L there was evidence of an atria1 septal defect but no associated left ventricular hypertrophy. The findings in this report imply physiologically small shunts through the atria1 septal defects. Therefore, one questions whether the enlarged left ventricle in a “pentalogy of Fallot” is really due to the associated atria1 septal defect, or whether the total findings are not the result of a physiologically insignificant atria1 septal
7.58
Rosenblum,
Table I I C. Pulmonic
Name
Age 2
M
D.E.
4
F
R.B.
14
F
S.B.
12
M
F
A.J.
6
F
S.G.
3 > ‘j
F
1V.F.
12
M
R.C.
942
F
T.D.
6
RI
N.L.
16
F
H.A. S.B.
8 4;s
M M
cc.
27 mo.
M
Y.D.
6 mo.
F
Escher,
(surgical
Am. Hmrt 1. Dmwabev, 1962
Stern, and Young
stenosis, ventricular
I! Sex
G.L.
M.L.M
Mark,
sepal defect with normal aortic root
Anatomic findings and/or postmortem
evaluation)
Pulmonary valve deformed. Infundibular stenosis. Right and left ventricular hppertrophy and dilatation, heart enlarged, weighed 160 Gm Pulmonary valve stenosed, infundibular muscular hypertrophy, 3 cm. high VSDover-all size of heart enlarged
Pulmonary valve normal, 1.5 cm. VSDinfundibular muscular hypertrophy Pulmonary valve normal, infundibular muscular hypertrophy, 1.5 cm. VSD, RA and RV enlarged, LV and Lt\ appeared normal Pulmonary valve deformed and stenosed, muscular hypertrophy of infundibulum, right and left ventricular hypertrophy, heart enlarged, intact bundle of His, heart weighed 100 Gm. Pulmonary valves normal. Second set of rudimentary pulmonary valves below normal set, 2 cm. defect under aortic valve, fibrous and muscular hypertrophy of infundibular area, right and left ventricular hypertrophy, heart enlarged (weighed 1.50 Gm.) Pulmonary valves normal, muscular hypertrophy of infundibulum Pulmonary valve normal, infundibular muscular hypertrophy and IVSD Bicuspid pulmonary valve stenosed. Muscular hypertrophy of infundibulum, large high IVSD Pulmonary valves normal, large heart, muscular hypertrophy of infundibular area Pulmonary valve normal. Infundibular stenosis with 1.5 cm. VSD Valvular pulmonic stenosis, 3-4 cm. IVSD Pulmonary valve slightly thickened. Infundibular hypertrophy, large heart and marked hypertrophy of right ventricle and + hypertrophy left ventricle. Large LA and RA. Suggestive narrowing of pulmonary artery ring (weighed 80 Gm.) Pulmonary valvular stenosis. Large heart. No infundibular narrowing, large IVSD Pulmonary valve normal. Infundibular hypertrophy. Hypertrophied left ventricle and right ventricle. Right ventricular cavity very small. Patent for-amen ovale
Postopevatioe Died
summary
postoperatively
Clinically well, pulmonary insufficiency and residual VSD proved by catheterization, heart size unchanged, VSD closed at second open-heart operation Residual VSD-clinical evaluation, heart size unchanged Residual VSD, clinical evaluation
Heart
Died
block,
died postoperatively
postoperatively
No change in heart size, acyanotic, VSD, patient clinically well Residual VSD proved by catheterization Well, diastolic murmur in pulmonary area Complicated by aortic insufhciency, repaired: doing well, VSD closed as proved by catheterization Doing well Doing well Died postoperatively,
Died at operation, performed Died postoperatively
heart
no autopsy
block
Diferentiation
oj PS, VSD with normal aortic root from TF
759
Fig. 4. Above: Patient E.B., 12 years old. Pulmonary arterial and infundibular pressures are equal and above normal. Below: Same patient, 19 years old. Distinct gradients at the pulmonary valve and infundibular chamber are noted; the pulmonary arterial pressure is normal.
defect in a pulmonic stenosis, ventricular septal defect with a normal aortic root. It is important to note that the size of the heart in the 2 patients with patent ductus arteriosus (F.M. and C.C.) did not increase postoperatively. This lack of change postoperatively may be due to the fact that the left ventricle was well developed previously because of an associated patent ductus arteriosus. The left ventricle of the in utero heart with ventricular septal defect and a nontransposed aorta may well be under increased work, since it contributes a greater share of blood to the systemic circulation because of the interventricular shunt (Fig. 12). However, TaussiglR states that
the utero in heart with a ventricular septal defect is not under any stress. Shortly after birth the left ventricle continues to function as a high-output chamber, with the in utero right-to-left shunt reversed to left to right as the pulmonary resistance falls. If, in addition, severe pulmonic stenosis exists in utero, an even greater right-to-left shunt is present at the ventricular level. If the resistance at the outflow tract of the right ventricle is severe, then the flow of blood from left to right may never occur when the pulmonary resistance falls after birth. This hypothesis may help explain the findings in G.L. and Y.D., who were cyanotic from birth and yet had definite left ventricular hyper-
Xosenblum, Mark, Escher, Stern, and I’oung
760
Fig. 5. The lung lields are h>~povnscular, with ox-er-,lli enlxgemellt of the heart. The right anterior oblique view suggests minimal enlargement of the left atrium. The left anterior oblique view strongly suggests an enlarged left a5 well as right ventrkle in :I cyanotic. patient (G.L.) with normal aortic. root.
Fig. with
6. The right);
pulmonary the aorta
artery is well developed and fills S/6 of a second before has normal position and size (Patient S.G.). Compare with
trophy when examined post mortem. It is this hyperdynamic chamber which manifests itself in the clinical and laboratory findings outlined and allows for its differentiation from Fallot’s tetralogy. Those patients who initially had a ventricular septal defect and developed progressive infundibular hypertrophy, to the point of an absence of a left-to-right shunt at the ventricular level, still revealed some evidence of a well-developed left ventricle, which, therefore, indicated a normal aortic root. We believe that many of the reported cases of atypical tetralogy of Fallot fall
the aorta, (left view Fig. 1,R and R.
into our classification ventricular septal aortic root.32-40
of pulmonic defect with
compared
stenosis, normal
Summary AA physiologic and clinical approach has been employed to distinguish two groups of patients who were anatomically similar: one group had pulmonic stenosis, ventricular septal defect with overriding aorta (tetralogy of Fallot) ; and the second group had pulmonic stenosis, ventricular septal defect with normal aortic root. The former group has a single developmental defect
Differentiation
of PS, VSD with normal aortic root from 7’E
associated with incomplete transpositiou of the aorta and persistence of a right ventricular aortic flow; therefore, this entity should be considered within the spectrum of the transpositions. The second group, whether in utero development of puhnonic stenosis with interventricular septal defect or postnatal hypertrophy of the right ventricular outflow tract with interventricular
761
septal defect, has evidence of a hyperdynamic left ventricle. It is the physiologic role of the left ventricle that separates these patients into two distinct groups. We should like to thank Dr. F. Claps, of Cardiovascular Service, Lenox Hill Hospital, allowing us to use the card&c catheterization and the angiocardiograms on Patient \XT.F., The Johns Hopkins Hospital for the data on tient N.L.
Fig. 7. The pulmonary arteries are well developed and fill earlier and with greater contrast than the aorta. In the left lateral view the aorta is in normal position, and there is only minimal difference between the size of the base of the aorta and the size of the arc-h (Patient G.L.).
Fig. 8. Large left atrium on angiocardiogram; in size to the rest of the aorta (Patient S.G.).
the aortic
root
is comparable
the for data and Pa-
762
Rosenblum,
Mark,
Escher, Stern, and Young
I-
-
:_-.
-
.*.,
Fig. 9. Electrocardiogram of Patient N.L. Right ventricular hypertrophy. Note progressive inrreasc V~-V~ and the deep S wave Lead Vz.
Fig. 10. Electrocardiogram of Patient HA. ventricular hypertrophy, and large S waves R waves in Leads V? to VS.
axis deviation and right in the K wave in Le:tdb
Right axis deviation in Leads VZ, VI, and
and right increasing
Diferentiution
Fig. II. C.C.). R.C.).
A, Right B, Normal
atria1 tracings right atria1
of PS, VSD with ?zormal aortic root from TF
which tracing
demonstrate dominant in a case of Fallot’s
4.
5.
6.
7.
8.
.. 2
9.
PULM.
SYSTEM/C RESfSTANCE
Fig. 12. In utero circulation septal defect, postulating the left ventricle.
10.
in a case of ventricular increased work load on
REFERENCES 1. Fallot, A.: Contribution B l’anatomie pathologique de la maladie bleue (cyanose cardiaque), Marseille Med. 25:77, 138, 207, 270, 341, 403, 1888. 2. Bing, R. J., Vandam, L. D., and Gray, F. D.: Physiologic studies in congenital heart disease. II. Results of preoperative studies of patients with tetralogy of Fallot, Bull. Johns Hopkins Hosp. 80:121, 1947. 3. Dexter, L., Haynes, F. W., Burwell, C. S., Eppinger, E. C., Sosman, M. C., and Evans, J. M.: Studies of congenital heart disease. III.
11.
12. 13. 14.
15.
A waves tetralogy
763
(Patient (Patient
Venous catheterization as a diagnostic aid. Patent ductus arteriosis, tetralogy of Fallot ventricular septal defects and atria1 septal defects, J. Clin. Invest. 26:.561, 1947. Howarth, S., McMichael, J., and SharpeySchaefer, E. T : Cardiac catheterization in cases of patent interauricular septum, primary pulmonary hypertension, Fallot’s tetralogy and pulmonic stenosis, Brit. Heart J. 2:292, 1947. Wood, I’., Magidson, O., and Wilson, P. A. 0.: \“entricular septal defect, with a note on acyanotic Fallot’s tetralogy, Brit. Heart J. 16:387, 19.54. Wood, P.: Diseases of the heart and cirrulation, ed. 2, Philadelphia, 1956, J. B. Lippincott Company. Kramer, R.: Pulmonic stenosis with septal defect without overriding aortic arch, Arta paediat., Suppl., 40:195, 1951. Lev, M.: The pathologic anatomy of ventricular septal defects, Dis. Chest 35:1, 1959. McCord, M. C., Van Elk, J., and Blount, S. G., Jr.: Tetralogy of Fallot--clinical and hemodynamic spectrum of combined pulmonic stenosis and VSD, Circulation 16:736, 1957. Gasul, B. M., Dillon, R. F., Vrla, \‘., and Hart, G. : Ventricular septal defects. Their natural transformation into those with infundibular stenosis or into the cyanotic or non-cyanotic type of tetralogy of Fallot, J.A.M.A. 164:847, 1957. Coelho, E., DePaiva, E., DePadua, F., Nunes, A., .4mram, S., Es&, B., and Luis, S.: Tetralogy of Fallot. Angiocardiographic, electrocardiographic, vectorcardiographic and hemodynamic studies of Fallot type complex, Am. J. Cardiol. 7:538, 1961. Leatham, A. : Classification of systolic murmurs, Brit. Heart J. 17:574, 19.55. Nadas, A. S.: Pediatric cardiology, Philadelphia, 1957, W. B. Saunders Company. Ziegler, R. F.: Electrocardiographic studies in normal infants and children, Springfield, Ill., 1951, Charles C Thomas, Publisher. Alimuring, M. M., Joseph, L. G., Nadas, A. S.,
16.
17.
18.
19.
20.
21.
22. 23.
24.
25.
26. 27.
28.
and Massell, B. F.: Unipolar precordial and extremity electrocardiogram in normal infants and children, Circulation4:420, 1951. Duchosal, P. ii:.:., and Grosgurin, J. Ii.: Atlas d’electrocardiographie and de vertorcardiographie, Basle, 1959, S. Karger. Keith, J. D., Rowe, R. D., and Vlad, T.: Heart disease in infancy and childhood. Ne\v York, 1958, The Macmillan Company. Taussig, H.: Congenital malformations of the heart. Vol. II. Specilic malformations, ed. 2, Cambridge, 1960, Harvard ITniversity Press. DePasquale, S. I’., and Burch, G. E.: The electrocardiogram, vectorcardiogram and ventricular gradient in the tetralogy of Fallot. Circulation 24:94, 1961. Gould, S. I?.: Pathology of the heart, ed. 2, Springfield, Ill., 1960, Charles C Thomas, Publisher. Kjellberg, S. R., Mannheimer, E., Rudhe, Ii., and Jonsson, B.: Diagnosis of congenital heart disease, ed. 2, Chicago, 1959, The Year Book Publishers, Inc. 22. RI.: Hypertropic infundibular Johnson, stenosis, Brit. Heart J. 21:429, 1958. March, H. W., Gerbode, F., and Hultgren, H. N.: The reopened ventricular septal defect. A syndrome following unsuccessful closure of interventricular septal defects particularly in association with infundibular stenosis, Circulation 24 :250, 1961. Rich, A.: A hitherto unrecognized tendency to the development of widespread pulmonar> vascular obstruction in patients with congenital pulmonic stenosis (tetralogy of Fallot), Bull. lohns Hopkins Hosp. 82:389, 1948. Burchell, H. d.: The basis of cyanosis in tetraloev of Fallot. Pror. Staff Meet. Mavo Clin. 2Z62, 1947. Brock, R.: Direct operations in tetralogy of Fallot, Am. J. Cardiol. 3:1, 1959. Spitzer, A.: The architecture of normal and malformed hearts, a phylogenetic theory of their development. With summary and analysis of the theory by Maurice Lev and Aloysius Vass, Springlield, Ill., 19.51, Charles C Thomas, Publisher. Kramer, ‘I‘. C.: The partitioning of the truncus
29.
30.
31.
32.
33.
34.
35.
36.
37.
38.
.i9.
40.
and conus and the formation of the membranous portion of the interventricular septum of the human heart, Am. J. Anat. 71:393, 1942. Edwards, J. E., Bulb&m, &A. II., and Rogers, H. M.: Pathologic and embryologic considerations in tetralogy of Fallot, Proc. Staff Meet. nIayo Clin. 22:166, 1947. Gasul, R. M.. Richman, J. B.. and Kmkower, C. A.: .i case of tetralogy of Fallot \vith patent foramen ovale (pentalogy) showing marked left \-elltricular hypertrophy and left asib deviation, J. Pcdiat. 35:413, 1949. Brinton, W. I~., and Campbell, 51.: Necropsiea ill some congenital heart- disease mainly Fallot’s tctralozv. Brit. IIeart 1. 15:335. 1953. Paul, Ii. N.. MegeL-and, R. I’, and Parker, J .: l‘etralogy of Fnllot with left ventricular hypertrophy, j. Pediat. 45:672, 1954. Bashour. F.. and WinchelI. I’.: PreDonderant left-to-right ‘Aow through n ventricilar septal defect in the presence of pulmonic stenosis, hnn. Int. Med. 42:1227, 1955. Eldridgc, F. L., and Hultgren, II. K.: I’ulmanic stenosis with increased blood flow, ;\M. HEART J. 49:838, 1955. Rowe. 12. D., Vlad, T., and Keith, J. I’.: Atypical tetralogy of Fallot, a nowcyanotic form 15ith increased lung vascularit>-. Report of 1 (‘ases, Circulation 12:230, 1955. Motfett. G. Ii., Jr., Zinsser, H., Kuo, I'. .I‘.. Johnson, J., and Schnabel, I’.: Pulmonic stellosis with left-to-right intracardiac shunts, .\m. J. A#led. 16:521, 1954. Rudolph, A. M., Nadas, :l. S., and Goodale, \V. ‘I‘.: Intracardiac left-to-right shunt with pulmonic stenosis, AM. HEART j. 48:808, 19.5-C. Deuchar. I). C.. and Zilch. G. A.: Cardiac wtheterizations ill congenital heart disease; 4 cases of p~ilmonic stenosis with increased blood flow, Guy’s Hosp. Rep. 101 :l, 1952. Magidson, 0.. Crosby, Ii. S., Dimitroff, S. I’., Levinson, I). C., and Griffith. G. C.: I’ulmonar~ stenosis with left-to-right shunt, Am. J. Med. 17:311, 19.54. 13roadbcnt, J. C., Wood, E. H.. and Burrhell, H. B.: Left-to-right intracardiac shunt in the presence of pulmonary stenosis, Proc. Staff hIeet. Mayo Clin. 28:lOl. 1953.
of pulmonic
septal
tetralogy
defect
with
stenosis, normal
aortic
root
of Fallot
Robert Rosenblum, M.B. Herbert Mark, M.D. Doris J. W. Escher, M.D. Wilhelm Z. Stern, M.D. Dennison Young, M.D. New York, N. I’.
allot, in 1888, described and correlated the clinical-pathological findings of the cyanotic congenital cardiac abnormality of pulmonic stenosis, interventricular septal defect, enlarged right ventricle, and overriding aortic root. Sixty years later the physiology of this congenital cardiac defect was clarified by studies which made use of the cardiac catheter.2-4 It was also recognized that not all patients with tetralogy of Fallot were clinically cyanotic.5 Several authors have distinguished between pulmonic stenosis (PS), ventricular septal defect (LSD) with overriding aorta and PS,VSD with normal aortic root.5-S In recent years, however, there has been an attempt to classify all ventricular septal defects with narrowing of the right ventricular outflow tract, whether infundibular and/or valvular PS, as being within of the same lesion.g-l’ one spectrum The purpose of this paper is to document the thesis that there are two distinct entities, both with acyanotic and cyanotic components, which are, clinically and physiologically, distinguishable: (1) PS,VSD with
Keceived
746
ior
publication
March
3. 1962.
partially transposed aorta or overriding aortic root (tetralogy of Fallot), and (2) PS,VSD with normal aortic root. Materials
and
methods
This study is an analysis of the clinical and laboratory data of patients with pulmonic valvular and/or infundibular stenosis, with ventricular septal defects, whose right ventricular pressures are at least equal to the systemic pressure. There are 17 patients with overriding aortic root and 18 with normal aortic root. No attempt at selection was made other than to choose patients whose data for analysis were available in as many parameters as possible. Surgical and/or postmortem data are presented when available. Postmortem examination was obtained in all patients who died. All patients were studied by the technique of catheterization of the right side of the heart. The blood oxygen saturations were obtained by the Waters-Conley oximeter and/or by the manometric method of Van Slyke and Neill. Intracardiac pressures were recorded using Statham strain-
Diferentiation
of PS, VSD with normal aortic root from TF
gauge transducers and the Electronics for Medicine photographic recorder. A few recordings were made on the Sanborn two-channel direct-writer. The pressures and oxygen saturations in the right ventricle and systemic artery were not all obtained simultaneously. Angiocardiograms were recorded by the Elema-Schonander biplane film changer, and using
747
the Gitlund injector for the intracardiac injections of contrast media. All injections were made selectively into the outflow portion of the right ventricIe unIess otherwise specified. The murmurs are described by intensity, location, and duration; the classification of Leatham12 is employed. The clinical auscultation was correlated with phono-
displaced aorta in Fallot’s tetralogy (Patient Fig. 1. A, Left lateral angiocardiogram shows a wide, anteriorly 1t.C.). B, The photograph on the left shows greater density and earlier filling of the aorta and partially tmnsposed aortic root; that on the right shows a \vide base and ascending portion of aorta and small pulmonar) nrteries (Patient K.C.).
74x
Kosenblum,
Mark,
Am. Hcavt 1. Dccrmber, 1961
Escher, Stern, and Young
Table IA. Tetralogy of Fallot sex
Cyanotic
2
F
Yes
Poor
D.J.
28
F
0
Normal
C.S. J.N.
9 30
M M
Yes Yes
Normal Normal
Systolic 0
R.C. S.S.
4 16 mo.
F F
Yes Yes
Small Small
Systolic, None
iVame
/
A@
K.B.J.
i
I
Growth
Thrills
~ 4th
Sozlnds
ICS
Single
2nd
Single
2nd
Single
2nd
PI diminished Loud single 2nd Single 2nd
3-4 ICS
MS.
3
F
Yes
Normal
Systolic, pulmonar) area
Single 2nd
M.O.
9
M
Slightly
Normal
Systolic, 2-3 ICS
Single 2nd
26
F
Xt times
Normal
Systolic, LSE
PS diminished
E.F.
5
F
Yes
Normal
?_:
Single 2nd
B.J. D.H.
5 8
M Ia
Yes Yes
Normal Poor
2nd ICS 0
Single 2nd Single 2nd
I.A.
C.C.
18 mo.
M
0
Poor
Systolic, pulmonar) area
Single 2nd
R.M. D.E. F.M.
1.5 mo. 30 7
M M M
Yes Yes
Poor Normal Poor
Systolic 0 0
Single 2nd Single 2nd Single 2nd
21
F
SlightI)
Normal
0
Single 2nd
J.M.W.
ICS:
Intercostal
space.
LSE:
Left
sternal
edge.
RAD:
Right
axillary
cardiograms when possible. Standard twelve-lead electrocardiograms and Lead VBR were analyzed.14-‘g An A wave in the right atria1 tracing was considered to be dominant when it was 4 mm. above the V wave and had a rapid X descent. Results Tables IA, IB, IC, and IIA, IIB, IIC summarize the data in the two groups of patients. The important feature that distinguishes the two entities is the hyperdynamic left ventricle in the group with the normal aortic root. Tetralogy of Fallot. The findings in Fallot’s tetralogy are well known,6~13~17~18~20~21 but certain observations should be emphasized: (1) Patients with tetralogy of Fallot have normal-sized or small hearts, which do not show progressive enlargement with time; there are no progressive changes in
deviation.
RVH
and LVH:
Right
and
left ventricular
hypertrophy.
the electrocardiogram of these patients after infancy, and cardiac failure is uniformly absent. (2) A dominant A wave does not occur in this group.6j17 (3) There is little or no evidence of a left-to-right shunt at the ventricular level, and the pulmonary arterial pressures are either normal or below normal. In our experience with selective angiocardiograms with rapid injection of the dye into the outflow tract of the right ventricle, the large aortic root can usually be seen to fill earlier than, or at least simultaneously with, and to have a density equal to, the pulmonary artery. In most cases the dextraposed origin of the aorta is usually recognized (Fig. 1). A small pulmonary artery is sometimes noted but not consistently enough to be of diagnostic value. Postoperatively, the Fallot heart con-
Diflerentiation
of PS, VSD with normal aortic root from
I
I ECG
I Grade
3 harsh
Grade
2 systolic,
Ejection Systolic,
3rd
systolic, 4th ICS
Grade Grade Short 2-3rd
systolic
2-4 ICS
RAD,
2nd ICS
2-3 systolic, 3-4th ICS 2 systolic, 2-3rd ICS Grade ICS
2 ejection
RAD, RAD,
systolic,
Grade
3, ejection
systolic,
Grade
3 systolic,
3rd ICS
2 ICS
RAD,
Right
atrium.
RV:
Right
sistently enlarges. Most due to the enlarging of the which receives a normal after corrective surgery (Fig. Pulmonic stenosis with
ventricle.
RAD, RAD,
RVH RVH
RAD, LVH
RVH,
RAD, Rr\D, R-AD,
RVH RVH RVH
R.%D,
RVH
PA:
I
Pulmonary
likely, this is left ventricle, flow of blood 2).
interventricular septal defect with normal aortic root. Anatomically, those with a normal aortic root fall into two categories (Table I IC). There are those who developed valvular pulmonic stenosis and interventricular septal defect in utero and often had an associated hypertrophy of the infundibular area (G.L., C.C., D.E., M.L.M., R.C., H.rl.). The majority of our patients were undoubtedly born with isolated ventricular septal defect and developed infundibulx hypertrophy months to years after birth, as reported by Gasul and associates.‘O In only S.G., R.C., and E.B. is there adequate clinical or cardiac catheter evidence for this mechanism (Fig. 3). R.C. and
X-ray
jilms
and/or
$uoroscopy
Normal-sized heart, clear lung fields, RX - ++, RV +, concave PA, “Coeur en sabot” Normal-sized heart, normal lung fields, R-1 - + , RV - + Normal-sized heart, lung fields clear, RV + Normal-sized heart, hypovascular lung fields, small P,4 Small heart, clear lung fields, RV + Normal-sized heart, clear lung fields, RA - +, RV+, “coeur en sabot” Small heart, small PA, ultra clear lung fields, RV-+
RVH
Vertical heart. Normal ECG RAD, RVH
Ejection systolic, pulmonary area, suggestive of holosystolic, 4th LSE. Continuous murmur at ductus area Grade 2 systolic, 2-3rd LSE Ejection systolic Small ejection systolic. Ejection click Eiection systolic. Grade 2-3, LSE
RA:
RVH RVH
RAD, RVH, RA enlarged
Harsh Grade 3 systolic, pulmonary area Ejection systolic, pulmonary area Ejection systolic, pulmonary area
respectively.
RVH
RAD, RVH, RA enlarged RAD, RVH RAD, RVH
LSE
749
1’F
Normal-sized RV f, slightly Normal-sized
heart, clear lung fields, prominent aorta heart, clear lung fields
RA
+,
Normal-sized heart, clear lung fields, small PA, RV - +, right aortic arch Small heart, clear lung fields, RV +, concave PA Normal-sized heart, clear lung fields, RA - +, RV +, “coeur en sabot,” concave PA Slightly enlarged heart, lung fields normal, L.4 ++, RV + , aorta wide Normal-sized heart, Normal-sized heart, Normal-sized heart, vascular, R\’ + Normal-sized heart, lature
lung fields clear, K\’ ++ lung fields normal, RV + lung fields slightly hyponormal
pulmonary
vascw
artery.
E.B., who had pulmonary valvular stenosis, also developed muscular hypertrophy of the outflow tract of the right ventricle with time2” (Fig. 4). The physical findings of ventricular septal defect with a left-to-right shunt, as well as pulmonic stenosis, were the features that distinguished the acyanotic patients with a normal aortic root from the minimally cyanotic or acJ.anotic patients with Fallot’s tetralogy. AAs in Fallot’s tetralogy, the sound of pulmonic closure is diminished or absent. Even in those patients with a significant increase in pulmonic flow, the pulmonic sound may be diminished (D.R., R.B., R.C., R.K., A.J., C.C., E.B.). In patients with balanced or right-to-left shunts the auscultatory findings may be indistinguishable from those in patients of the Fallot group. There are, however, other indices that
750
Kosenblum,
Mark,
Am. Hrart J. Dcccmbcr, 1962
Escher, Stern, and Young
Table IB. Tetralogy of Fallot !
I Name
Age
Sex
svc (76 Sat.)
IVC (7; , Sat.)
F
68
67
Right atrium _ ______
Right
I
ventricle
I K.B.J.
4
2
10
8
88/8
67
16/10
67
90/o
64
20/10
130/73
84
67
79/47
92
50 50 at
90/59 120/74 110/77
65 77 81
48 50
100/5 92/73
71 76
D.J.
28
F
60
C.S. J.N. R.C.
9 30 4
M M F
52 49 51
49 48 67
6 8 6
4 6 3
61 50 62
96 0 128/Z 94/o
50 48 60
S.S. M.S.
16 mo. 3
F F
49
50 53
9
8
46 55
73/7 87/10
48 58
25/6 NE lS/? operation 12/Z 13/7
102/S
69
23/4
72
125/78
93
86/4 97/2
12/5 12/s
71
63
100/58 110/73
89 83
67
109/56 109,‘62 83/SO
84 83 87
M.O.
7
M
69
69
IA. E.F.
28 5
F F
66 57
66
B.J.
5 7 8
M
6.5 77
74
D.H. R.M. C.C. F.M.
M
15 mo. 18 mo. 7
M M M
69 67 51
J.M.W.
21
F
63
D.E.
30
M
SVC: Superior
vena cam. WC: Inferior
Rate 150 single wave 7 4 65 9 7 64 5 11
3 10
66
Rate 150 68 single wave 12 10 6.5 6 65 8 7
87/O 120/j 81/12
67 70
18/3 NE 9/Z
95/o 100/o 100/o
69 79 54
25/12 35/18 NE
65 85
lOlj64 100/45 105/65
90 97 68
72
5
3
64
123/7
69
14/5
68
115/78
85
9
6
52
120/5
50
NE
52
120/88
76
vena CBYP. Sat.: Saturation.
reveal the distinctive physiologic differences. Cardiac fluoroscopy or x-ray examination usually demonstrated the evidence of a hyperdynamic left ventricle by the presence of an enlarged left ventricle and/or left atrium. Almost uniformly the over-all size of the heart is enlarged (Figs. 3 and 5). The angiocardiograms in patients with a normal aortic root usually demonstrate earlier filling of the pulmonary artery and show a greater density of the contrast medium in the pulmonary artery than in the aorta (Fig. 6). Even when the flow through the ventricular shunt is right to left, the pulmonary artery fills with greater contrast than the aorta (Fig. 7). The aortic root is relatively comparable in
A: Atrial ,1 WBY~. V: Atria1 5’ wave. S/D: Systolic
over diastolic.
size to its more distal portion and arch, in contrast to the marked discrepancy in size in patients with Fallot’s tetralogy. The aorta in the lateral view is in its normal position, posterior to the pulmonary artery (Fig. 7). Often the pulmonary artery and its branches are unusually well developed. Left atria1 enlargement can frequently be seen on the angiocardiogram (Fig. 8). The finding of large diphasic complexes in the electrocardiogram often is one of the distinguishing features that separates the normal-root entity from Fallot’s tetralogy (Fig. 9). In addition, although several patients presented the findings of isolated pulmonic stenosis, the electrocardiographic
Diferentiation
Aorta
Left
ventricle
of PS, VSD with normal aortic root from TF
751
Left atviunt Angiocardiogram
S/D
Sat. (%I
82/57
118/80
PW:
Pulmonary
;$&&
93/l
79
100/o
87
Simultaneous filling of aorta and pulmonary artery. Dextroposed aorta and wide base. Jet from RV to aorta seen Aorta slightly wider than normal and (?) dextroposed. Venous angiocardiogram Marked dextroposed aorta None Simultaneous filling of aorta and pulmonary artery. \I:ide dextroposed aorta None Slow injection, PA fills earlier than aorta; aorta anterior to normal location and wide at base. Valvular stenosis Venous angiocardiogram, wide aortic base and dextroposed aorta, PA fills before aorta None Venous angiocardiogram, early and simultaneous filling of aorta and pulmonary artery Simultaneous filling of aorta and pulmonary artery. Dextroposed aorta None
86
Catheterization
108/3 1 95/70
S,D;
performed
69
on 100%
oxygen
10
PW
PA:
Pulmonary
97
wedge.
NE:
Not
entered.
99 94
None None PA and aorta filled simultaneous; large aortic root, anterior position of aorta, suggestive of infundibular stenosis, injection into right atrium PA fills before aorta; LV fills from RV. A40rtic root slightly wider than normal Simultaneous filling of pulmonary artery and aorta. Aorta wide and somewhat transposed. Pulmonary valvular stenosis. Suggestion of infundibular stenosis
artery
evidence of left as well as of right ventricular hypertrophy as suggested by the diphasic complexes in the precordial leads (H.A., W.F., J.B.), (Fig. 10) pointed to an associated ventricular septal defect. A dominant A wave was seen in 9 of the 11 patients with a normal root who had normal pulmonary arterial pressures, and in 2 of the 5 with increased pressures in the pulmonary artery (Fig. 11). Data were not available in 2 patients. Adequate information is not available to explain the differences in the A waves between the patients with Fallot’s tetralogy and those with a normal aortic root. Acyanotic or minimally cyanotic adults with Fallot’s tetralogy were the most
difficult to classify. D.J. and J.M.W. fit the criteria for the diagnosis in this group, although in J.M.W. the aorta did not fill simultaneously with the pulmonary artery. The left ventricle of the patients in this group may not be hyperactive, but it is undoubtedly well developed because of the minimal degree of overriding. Postoperatively, the hearts of patients with a normal aortic root have not shown enlargement; however, neither have they shown a decrease in size. One factor is the relatively short time since operation, and another explanation in some patients may be the persistence or reopening of a ventricular septal defect. In 2 patients, repeat cardiac catheterization has demon-
752
Rosenblum,
Mark,
Escher, Stern, and Ibung
Table 1C. Tetralogy of Fallot
K.B. J
2
F
D.J.
28
F
C.S.
9
J.N.
30
hl
R.C.
1
F
S.S.
16 mo.
1cl
F
n1.s.
3
F
ihf .O.
9
hl
1.A.
F
20
E.F.
5
F
D.H.
8
M
R.M.
15 mo.
M
D.E. CC.
40 18mo.
M M
F.M.
7
M
B.J.
8
M
I’ulmor~ary valve stenosed, bicuspid valve; large RV, R&L\ enlarged, infundibulum narrowed, left x-entricle normal size Pulmonary vale-e stenosed, narrowed K\- outflow, I\‘SD entered between infundibular mass and pulmonary I-a!\-e
Pulmonary valve stenosed, muscular bands at R\ outflow, 2 cm. IVSD Pulmonary valve normal but arteq small. Infundibulum hypertrophied, no L\’ hypertrophy. Heart weighed 480 Gm. Pulmonary artery narrowed, hypertrophy of crista, right \;entric!e hypertrophied, and narrowed right ventricular outflow. LV not enlarged Pulmonaryartery narrowed, fused leaflets, right ventricular outflow narrowed, left ventricle not enlarged Pulmonary valve leaflets normal but pulmonar) artery and a~~nul~~s narrowed, muscular bands at crista area, right ventricle enlarged, LV not enlarged Pulmonaq~ valve stenosed, fibrous bands below valve, diaphragm of muscle at RV outflow. pulmonary artery- small, 1.5 cm. VSD Pulmonary valve slightly stenosed, bicuspid \-alvc, sex-ere infundibular stenosis, marked destroposition of aorta Pulmonary x-alve stenosed, fibrous obstruction of outflow of RV, pulmonary artery narrowed, rightsided aortic arch Pulmonary valve stenosed, infundibulum narrowed, small pulmonary artery Pulmonary valve stenosed, narrowed pulmonary artery. bicuspid pulmonary valve, infundibulum narrowed, RV enlarged, LA and LV normal. Heart weighed 65 Gm. Blalock procedure. RV enlarged Patent ductus arteriosus ligated, valvlllar pulmanic stenosis, moderate hyertrophied infundibular area, fibrotic bands at RV outflow tract, IVSD Pulmonary valve normal, patent ductus arterlosils, infuntlibulum hypertrophied, 1\5D Pulmonary vale-e normal, muscular bands at R\. outflow tract, lungs congested, over-all size of heart enlarged (weighed 100 Gm.), RV and I-\’ dilated, three defects in muscular ventricular septum
Died
postoperati\-el>
Postoperative cardiac failure. Huge heart. Residual IVSD repaired, with excellent clinical results, pulmonaq insufficiency murmur. Pulmonaq insufficiency proved by catheterization Heart enlarged. Pulmonary insufliciency murmur. A~\cl-anotic, we!! I lied postoperatix-el>
Heart
Died
enlarged.
Acyanotic,
we!!
postoperative15
Heart
enlarged.
Acqanotic,
well
Heart
enlarged.
Acyanotic,
well
Acyanotic,
Heart nary
well
enlarged. insufficienq..
Murmur of pulmo.Acptnotic, well
Heart enlarged, acyanotic, well, murmur of pulmonary insuficienq Ilied postoperativell-
Cyanotic, clinirally No change in heart we!!
improved size, acyanotic.
No change in heart size, VSD clinicall>-, acyanotic IXed postoperati\re!)
residual
Di’erentiation
Fig. 2. Tetralogy of Fallot operatively. Right: Larger
of PS, VSD with normal aortic root from
in Patient D.H. Left: Normal size of heart cardiac shadow 1 year postoperativrely.
Fig. 3. Above: Over-all enlarged heart, atrium in Patient S.G., 18 months old. enlargement of left atrium, and enlarged the changing conditions suggest progressive
pre-
hypervascular lungs, and large left Below: Normal lung fields, minimal heart in same patient, 35.5 yearsold; infundibular hypertrophy.
TF
7.53
754
Rosenblum,
Table IIA. Pulmonic Nanle G.L. D.E.
“lp 28 n10. 4
Mark,
Escher, Stern, and Young
stenosis, ventricular
s~.~ i
sepal defect with normab aortic root
Cyanotic
M
Yes
F
0
Grou,th
I
Thrills
Sounds
I
Diminished
Sormal
0
Normal
Prominent
left apex
P2
A? > P?
beat outside midcla\-icular line R.B.
14
F
Normal
Systolic prominent left apex
J.B.
12
RI
Normal
A.J.
6
F
Mentally
2;s
F
retarded Poor
cc.
17 mo
YI
S.G.
3 ;/;
F
E.B.
12
M
19 N.L.
beat
Systolic, 2-3rd LSE Systolic, 2%3rd LSE
Normal
4th
Poor
Systolic,
2nd LSE
0
Normal
Systolic, 2p3rd LSE
M
0
Normal
16
F
0
Normal
LV.F.
12
M
Slightly
Systolic, LSE Systolic, ICS Systolic,
R.C.
9?3
F
Syncope; Slightly
T.D.
6
M
0
Normal
54th LSE
along 2-3rd 3rd
Single
2nd
t’? diminished
Systolic, LSE Systolic,
M.L.M.
Normally split A2 > 1’2 Single 2nd
ICS
I’? diminished, delayed P2 diminished, delayed
Murmur obliterated 2nd sounds Pp diminished, delayed Single 2nd Single
2nd
Poor
Systolic, LSE
3-4th
P? diminished
Slightly
Systolic,
2nd LSE
Pz normal
SIOW
HA.
8
M
0
Small
\Videly systolic
R.K.
32
h2
0
Normal
0
V.T.
3%
M
Yes; clubbed
Normal
Systolic, LSE
J.B.
4
M
At times
Small
3rd LSE
Pp diminished,
3rd ICS, LSE
delayed Pz single
Y.D.
6 mo.
F
Yes
strated an interventricular septal defect, and in 3 other patients there is clinical evidence which strongly suggests a residual ventricular septal defect.23 Additional comment is indicated in W.F., whose right ventricular pressure exceeded systemic pressure by 88 mm. Hg at the time of cardiac catheterization and was confirmed with simultaneous pressure measurements at operation. The clinical evaluation, however, indicated a
distributed
P2 diminished
Ps diminished 3-4th
Pz diminished, delayed
ventricular septal defect as well as pulmanic stenosis. At operation, a ventricular septal defect, 1.5 cm in diameter, just below the hypertrophied crista, was repaired. Discussion The distinction between the two groups of patients is physiological and developmental. The circulatory dynamics of the tetralogy of Fallot are distinct from those
i.ol~tffle Number
61 6
Digerentiation
Murmurs 3 systolic,
4-ICS
Grade
3 systolic,
2-3rd
Grade
4 systolic,
3-LSE
ICS
Grade 3 holosystolic-diastolic at apes Grade 3 systolic, 2-4th ICS Grade
Enlarged R,4+-, Enlarged
RAD-RVH-LVH RAVF = 25 mm. RAD-RVH-LVH
Enlarged heart, concave PA-LA+, RV 2+ Normal-sized heart, RV-+, small aortic knob, normal lung fields Enlarged heart, lung fields clear, PA-+, LA-+, RV++, LV+ Enlarged heart, clear lung fields, concave PA segment, LA+, RV+ Enlarged heart, lung fields normal, RA+, LA+, RV++ 1957 - enlarged heart, hypervascular lungs, LA 3+, RV+ ; 1959-enlarged heart, normal lung fields, concave P& LApOpRV+ 1952-enlarged heart, prominence of PAA, LV+, increased pulmonary vasculature 1959-enlarged heart, increased pulmonary vasculature, LA+, RV+ Normal-sized heart, clear lung fields, RA+, RV+ Lung fields normal, heart enlarged
RAD-RVH
Ejection systolic 2nd ICS, holosystolic 3rd ICS Grade 3 holosystolic 2%3rd ICS suggestive of ejection component
RAD-RVH-LVH
Harsh
RAD-RVH
systolic and
ejection
systolic
Holosystolic Holosystolic,
RAD
RVH-probably RAD-RVH
3rd ICS
Holosystolic, 4th murmur at 2-%-d
RAD, RAVF 23.0 mm. RVH, suggestive of LVH Age 6-RAD-RVHLVH Age 9-RAD-RVH RVH-LVH
LSE-harsher LSE
Holosystolic Suggestion of harsh well as holosystolic
systolic
as
RAD-RVH-LVH
Grade 3 harsh systolic pulmonaq area Harsh systolic, holosystolic in type with suggestion of ejection type in pulmonary area Holosystolic and ejection systolic
RADPRVH
Harsh
RADPRVH-LVH
holocystolic,
3rd ICS
LSE
of the related entity with normal aortic root. The partial transposition or override of the aorta, with persistence of the right ventricle as a systemic ventricle coexistent with the left ventricle, explains the dynamics of tetralogy of Fallot. The right ventricle communicates directly with the systemic circulation, and, therefore, is directly affected by the systemic resistance as well as the resistance to flow at its outtlow tract or any changes that might take
LVH
heart, LA+-, heart,
jilms
RAD-R\:H RAVF = 30 mm. R.4D-RVH-LVH
RAD-RVH-L\‘H
3 holosystolic
Holosystolic
X-ray
ECG
Grade
755
of PS, VSD with normal aortic root from TF
clear R\‘+ RA+,
lung fields, , LV+ LA+
Heart enlarged, RV+, lung fields clear to slightly hypervascular. Pulmonary artery segment + Heart enlarged, small aortic knob, I,.\+, LV+, RV+ Heart enlarged, vascular markings normal. Dilatation of pulmonary artery RVf , LV, ) L,4-0 Normal-sized heart, normal lung fields, Ii\:+, aortic arch on right. Kyphoscoliosis Enlarged heart, R\‘+
Heart R\‘+ Clear
enlarged, lung
fields,
hypervascular globular
lung heart,
fields, RV+
place in the underfilled pulmonary vasculature.6J8J4,25 The left ventricle, therefore, never assumes its normal role and remains a relatively hypoplastic chamber or has a “petite volume” as described by Fallot. Tetralogy of Fallot is undoubtedly a single developmental anomaly, as emphasized by Spitze?’ and corroborated by studies of Kramer,28 and the greater the transposition, the greater is the severity of the narrowing of the outflow tract of the
7.56
Rosenblum,
Am. Hcovt .I. L,ccc>nbcr, 1’103
Mark, Escher, Stern, and Young
TabIe I IB. Pulmonic stenosis,ventricular scptal defect with normal
aortic root
I
I Pulmonary artery
Name
Age
i Systemic
artery
____-
-
S/D
Sat. (‘i; 1
Rate 120 G.L.
mo.
M
45
5.3
10
4
47
92/O
53
11/l
D.E.
4
F
70
76
6
4
69
86/5
86
G/17
R.B.
14
F
64
7
4
6.5
118/O
82
38/7
J.B.
10
RI
71
20
10
115/O
67
NE
A.J.
6
F
69
9
8
69
128/10
75
M.L.M.
2
F
74
78
7
3
73
88/O
75
x/21 OR 15/9
98/O
84
NE
61
81/2
65
17/9
55 72 81
108/O 107/O 112/s 100/o 208/3
69 84 92.5 78
28
67
55
73/40
72 98
79
121175 B 93/64 115/64
9-L
121/71
80-98
96/52
95
105/69
92
64
100/63
87-95
SO/S 19/9 68/14 16/10 12/l
69 84 94 80
127/85 105/60 130/65 77/58 120/80
95 99 98 98 82
104/57 87/S-1 103/48 B 110/60 110/70 110/52
93 98 98 94 9s 75-82
133/75
81
82
cc.
17 mo.
M
75
79
9
5
S.G.
34; (1959) 12 19 6 16 12
F
59
59
14
8
M
40 65 81 74
71 85 81
10 18
5 10 73
72 68
6 10 11
4 7 6
68 71
55/13 80/S 92/O
67 81 81
28/12 25/o 30/12
73 81 81 76 75 65
E.B. T.D. N.L. W.F.
M F M
R.C.
6 7 9j,$
F
72 76 67
R.K. H.A. V.T.
32 8 3p;
M M M
53 71 65
75
8 8 10
3 7 6
53 71 61
102/l 88/S 1 O3/ 7
74.5 75 65
15/S 16/6 25/9
J.B.
4%
M
64
70
10
8
61
123/13
70
NE
F
63
67
10
5
65
100/s
65
NE
pressure.
OR:
room
pressure.
abbreviations
see footnotes
Y.D.
6 mo.
B: Brachial
arterial
Operating
For
right ventricle and pulmonary artery. One concludes from the existing data that tetralogy of Fallot represents a variation in the spectrum of transposition and may represent persistence of a more primitive phylogenetic circulation.“’ The embryologic consideration in Fallot’s tetralogy has been reviewed by Edwards and associates.2g A comparison of the normal fetal circulation and the in utero circulation of the Fallot heart is diagrammed by Taussiglx
other
to Table
98
IB.
and clearly demonstrates the lack of circulatory stress on this heart in utero. At birth the resistance to flow at the right ventricular outflow tract is unchanged. As in utero, the right ventricle continues to supply blood to the systemic circuit via the “right ventricular aortic path” (Spitzer). *A Fallot heart is the same dynamically from its development to death and, in a way, really represents an extrauterine functioning of a fetal heart. If the true Fallot heart is associated
Diferentiation
Left
of PS, VSD with normal aortic root from TF
rrextriclr .4ngiocardiogmnr
PUIWIO-
102/75
98
110/67
95
757
PA tills before aorta, left shunt, VSD seen None
96/5
aorta
normal
in position
and
size, right-to-
No premature opacification of aorta, left-to-right shunt seen, aorta normal, large LA on angiocardiogram Early simultaneous filling of aorta but not so intense as that of PA; aorta normal, infundibular and valvular pulmonic stenosis; rightto-left shunt demonstrated Early filling of PA not aorta. Aorta normal, IVSD demonstrated PX fills before aorta. Bidirectional shunt seen, pulmonary valve and infundibulum stenosed, normal aorta on cineangiocardiogram Aorta normal, no premature filling, stenosis of pulmonary valve and infundibulum Normal aorta, no premature filling, infundibular stenosis, rightto-left shunt seen Aorta does not fill prematurely, normal aorta, stenosis of pulmonary valve and infundibulum-age 19 96 None Early filling of aorta, position, left-to-right
109/z
11 12
98
10
96/10
73
L.4 A= V=
77 11 8
but not so dense as that of PA, and normal shunt seen. Venous angiocardiogram
None
None Pulmonic valvular stenosis, normal position and size of aorta PA fills before aorta, infundibular stenosis, bidirectional shunt, cineangiocardiogram Aorta normal in position and size, bidirectional shunt seen, pulmonary valves normal, infundibular stenosis PA fills earlier than aorta. Aorta normal in position and size. IZV and LV enlarged. Infundibular stenosis and bidirectional shunt; cineangiocardiogram
with a patent ductus arteriosus or rightto-left shunt at the atria1 level,30 then a more normal or even increased flow to the left ventricle will be espected (F.M. and C.C.). These patients, clinically and physiologically, should be indistinguishable from those with a normal aortic root. A patent ductus arteriosus associated with a Fallot heart should be readily discernible by the continuous murmur; however, a clinical diagnosis was not made in F.M. prior to operation. In 10 autopsied pn-
tients with tetralogy of Fallot reported on by Brinton and Campbell,3L there was evidence of an atria1 septal defect but no associated left ventricular hypertrophy. The findings in this report imply physiologically small shunts through the atria1 septal defects. Therefore, one questions whether the enlarged left ventricle in a “pentalogy of Fallot” is really due to the associated atria1 septal defect, or whether the total findings are not the result of a physiologically insignificant atria1 septal
7.58
Rosenblum,
Table I I C. Pulmonic
Name
Age 2
M
D.E.
4
F
R.B.
14
F
S.B.
12
M
F
A.J.
6
F
S.G.
3 > ‘j
F
1V.F.
12
M
R.C.
942
F
T.D.
6
RI
N.L.
16
F
H.A. S.B.
8 4;s
M M
cc.
27 mo.
M
Y.D.
6 mo.
F
Escher,
(surgical
Am. Hmrt 1. Dmwabev, 1962
Stern, and Young
stenosis, ventricular
I! Sex
G.L.
M.L.M
Mark,
sepal defect with normal aortic root
Anatomic findings and/or postmortem
evaluation)
Pulmonary valve deformed. Infundibular stenosis. Right and left ventricular hppertrophy and dilatation, heart enlarged, weighed 160 Gm Pulmonary valve stenosed, infundibular muscular hypertrophy, 3 cm. high VSDover-all size of heart enlarged
Pulmonary valve normal, 1.5 cm. VSDinfundibular muscular hypertrophy Pulmonary valve normal, infundibular muscular hypertrophy, 1.5 cm. VSD, RA and RV enlarged, LV and Lt\ appeared normal Pulmonary valve deformed and stenosed, muscular hypertrophy of infundibulum, right and left ventricular hypertrophy, heart enlarged, intact bundle of His, heart weighed 100 Gm. Pulmonary valves normal. Second set of rudimentary pulmonary valves below normal set, 2 cm. defect under aortic valve, fibrous and muscular hypertrophy of infundibular area, right and left ventricular hypertrophy, heart enlarged (weighed 1.50 Gm.) Pulmonary valves normal, muscular hypertrophy of infundibulum Pulmonary valve normal, infundibular muscular hypertrophy and IVSD Bicuspid pulmonary valve stenosed. Muscular hypertrophy of infundibulum, large high IVSD Pulmonary valves normal, large heart, muscular hypertrophy of infundibular area Pulmonary valve normal. Infundibular stenosis with 1.5 cm. VSD Valvular pulmonic stenosis, 3-4 cm. IVSD Pulmonary valve slightly thickened. Infundibular hypertrophy, large heart and marked hypertrophy of right ventricle and + hypertrophy left ventricle. Large LA and RA. Suggestive narrowing of pulmonary artery ring (weighed 80 Gm.) Pulmonary valvular stenosis. Large heart. No infundibular narrowing, large IVSD Pulmonary valve normal. Infundibular hypertrophy. Hypertrophied left ventricle and right ventricle. Right ventricular cavity very small. Patent for-amen ovale
Postopevatioe Died
summary
postoperatively
Clinically well, pulmonary insufficiency and residual VSD proved by catheterization, heart size unchanged, VSD closed at second open-heart operation Residual VSD-clinical evaluation, heart size unchanged Residual VSD, clinical evaluation
Heart
Died
block,
died postoperatively
postoperatively
No change in heart size, acyanotic, VSD, patient clinically well Residual VSD proved by catheterization Well, diastolic murmur in pulmonary area Complicated by aortic insufhciency, repaired: doing well, VSD closed as proved by catheterization Doing well Doing well Died postoperatively,
Died at operation, performed Died postoperatively
heart
no autopsy
block
Diferentiation
oj PS, VSD with normal aortic root from TF
759
Fig. 4. Above: Patient E.B., 12 years old. Pulmonary arterial and infundibular pressures are equal and above normal. Below: Same patient, 19 years old. Distinct gradients at the pulmonary valve and infundibular chamber are noted; the pulmonary arterial pressure is normal.
defect in a pulmonic stenosis, ventricular septal defect with a normal aortic root. It is important to note that the size of the heart in the 2 patients with patent ductus arteriosus (F.M. and C.C.) did not increase postoperatively. This lack of change postoperatively may be due to the fact that the left ventricle was well developed previously because of an associated patent ductus arteriosus. The left ventricle of the in utero heart with ventricular septal defect and a nontransposed aorta may well be under increased work, since it contributes a greater share of blood to the systemic circulation because of the interventricular shunt (Fig. 12). However, TaussiglR states that
the utero in heart with a ventricular septal defect is not under any stress. Shortly after birth the left ventricle continues to function as a high-output chamber, with the in utero right-to-left shunt reversed to left to right as the pulmonary resistance falls. If, in addition, severe pulmonic stenosis exists in utero, an even greater right-to-left shunt is present at the ventricular level. If the resistance at the outflow tract of the right ventricle is severe, then the flow of blood from left to right may never occur when the pulmonary resistance falls after birth. This hypothesis may help explain the findings in G.L. and Y.D., who were cyanotic from birth and yet had definite left ventricular hyper-
Xosenblum, Mark, Escher, Stern, and I’oung
760
Fig. 5. The lung lields are h>~povnscular, with ox-er-,lli enlxgemellt of the heart. The right anterior oblique view suggests minimal enlargement of the left atrium. The left anterior oblique view strongly suggests an enlarged left a5 well as right ventrkle in :I cyanotic. patient (G.L.) with normal aortic. root.
Fig. with
6. The right);
pulmonary the aorta
artery is well developed and fills S/6 of a second before has normal position and size (Patient S.G.). Compare with
trophy when examined post mortem. It is this hyperdynamic chamber which manifests itself in the clinical and laboratory findings outlined and allows for its differentiation from Fallot’s tetralogy. Those patients who initially had a ventricular septal defect and developed progressive infundibular hypertrophy, to the point of an absence of a left-to-right shunt at the ventricular level, still revealed some evidence of a well-developed left ventricle, which, therefore, indicated a normal aortic root. We believe that many of the reported cases of atypical tetralogy of Fallot fall
the aorta, (left view Fig. 1,R and R.
into our classification ventricular septal aortic root.32-40
of pulmonic defect with
compared
stenosis, normal
Summary AA physiologic and clinical approach has been employed to distinguish two groups of patients who were anatomically similar: one group had pulmonic stenosis, ventricular septal defect with overriding aorta (tetralogy of Fallot) ; and the second group had pulmonic stenosis, ventricular septal defect with normal aortic root. The former group has a single developmental defect
Differentiation
of PS, VSD with normal aortic root from 7’E
associated with incomplete transpositiou of the aorta and persistence of a right ventricular aortic flow; therefore, this entity should be considered within the spectrum of the transpositions. The second group, whether in utero development of puhnonic stenosis with interventricular septal defect or postnatal hypertrophy of the right ventricular outflow tract with interventricular
761
septal defect, has evidence of a hyperdynamic left ventricle. It is the physiologic role of the left ventricle that separates these patients into two distinct groups. We should like to thank Dr. F. Claps, of Cardiovascular Service, Lenox Hill Hospital, allowing us to use the card&c catheterization and the angiocardiograms on Patient \XT.F., The Johns Hopkins Hospital for the data on tient N.L.
Fig. 7. The pulmonary arteries are well developed and fill earlier and with greater contrast than the aorta. In the left lateral view the aorta is in normal position, and there is only minimal difference between the size of the base of the aorta and the size of the arc-h (Patient G.L.).
Fig. 8. Large left atrium on angiocardiogram; in size to the rest of the aorta (Patient S.G.).
the aortic
root
is comparable
the for data and Pa-
762
Rosenblum,
Mark,
Escher, Stern, and Young
I-
-
:_-.
-
.*.,
Fig. 9. Electrocardiogram of Patient N.L. Right ventricular hypertrophy. Note progressive inrreasc V~-V~ and the deep S wave Lead Vz.
Fig. 10. Electrocardiogram of Patient HA. ventricular hypertrophy, and large S waves R waves in Leads V? to VS.
axis deviation and right in the K wave in Le:tdb
Right axis deviation in Leads VZ, VI, and
and right increasing
Diferentiution
Fig. II. C.C.). R.C.).
A, Right B, Normal
atria1 tracings right atria1
of PS, VSD with ?zormal aortic root from TF
which tracing
demonstrate dominant in a case of Fallot’s
4.
5.
6.
7.
8.
.. 2
9.
PULM.
SYSTEM/C RESfSTANCE
Fig. 12. In utero circulation septal defect, postulating the left ventricle.
10.
in a case of ventricular increased work load on
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(Patient (Patient
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