Congenital Absence of the Pulmonary Valve with Atrial Septal Defect Surgically Corrected with Aortic Homograft

absence of the pulmonary valve is a rare Congenital anomaly. To date, approximately 57 proved cases

SELECTED REPORTS

have been reported in the English literature. It is generally accompanied by other cardiac anomalies, the most common being ventricular septal defect with or without infundibular stenosis.':" Its occurrence as an isolated anomaly has been described only five times previously.'·5-8

Congenital Absence of the Pulmonary Valve with Atrial Septal Defect Surgically Corrected with Aortic Homograft-

This paper reports a case with congenital absence of the pulmonary valve and secundum atrial septal defect. This combination of lesions has not been previously described. Open-heart surgery consisting of closure of the septal defect and aortic valve homograft replacement of the absent pulmonary valve was successfully done.

PI/lit C"I,·tlItIWII~koltl/l. M.D.; Rollert L. Re'llo~le, M.D.; L. Gall:tlwz,-La"'II, AI .D.; a'l([ Rene A. Arc/lla. M.D.

A 20·year-old man with con.enltal abRnce of the pulmonary valve, .ecundum atrial septal defect and partial atrioventricular block I. deac:rlbed. This combination of lesion. haa not been reported previously. Hemodynamic studies revealed left.to-.... ht atrial .hunt and low pul. monary artery preMures presumably caused by Increued compliance of the aneury.mal pulmonary trunk. Corrective suraery, conalltlnl of c:lOIIure of two atrial .eptal defects and aortic valve homoaraft replacement, was Mucceafully done.

CASE REPORT

The patient. a 20-year-old black man, was referred from another hospital on November 24. 1969 for evaluation of a heart murmur discovered during a routine preemployment Ilhy~lcal examination, At alte three years. he was found to have an abnormal heart. However, he has been asymptomatic and ha.~ parttctputed In active sports. Physical examination revealed 1\ well-nourished, well-developed, aeyanotic man in no distress. Pulse WIUl 6n per minute, respiration 20 per minute. and blood pressure !On/80 10m Hg, The radial and femoral arterlal pulses were normal, and no abnormal arterial and venous pulsations were noted In the neck. Ellamlnation of the heart revealed precordial bulge, moderate parasternal heave, and systolic pulsations lit the second lind third left Interspacell parasternally. A systolic thrill was present at the sume area, 81 was normal; 82 was slnj(le lind of norma! intensity at the left base, An ejection systollc click. showing expiratory accentuanon, was present along the left sternal

._---------------

-From the Department of Pediatrics and Surgery of the Pritzker Schoo! of Medicine. The University of Chlcago, Chlcllj(o. Presented lit the Chicago Pediatric Cardiology Monthly Met·tlnj(s (Chicago Heart Assoclutlon) April. 1971. Supported hy II j(rIlnt (RR-3n.'5) from the Generul Clinical Hest'lIrch Centers Program of the Division of Research R~ sources, Nattonal Instttutes of Health. Re/lrilit re(IUI!Nt.~: Dr. Arcilla, 9!50 Ea.~t 59th Street, Chicago 60637

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FII:lJIl1i: 1. Clwst roentj(enOj(fllms In the fmntal projection before surltery (left). and Sill months llftt'f SUfltt'fY (rlj(ht). Note prominent pulmonary artery segment In both IUms, and the reduction in henrt size nftt'r surj(ery.

100

,

CONGENITAL ABSENCE OF PULMONARY VALVE

11110169

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101 the auscultatory findings. The single Sz was identified to be the aortic component, and was followed by the diastolic murmur after an interval of 40 milliseconds. No definite pulmonic closure sound was observed. The chest roentgenograms obtained in the frontal (Fig 1), lateral and oblique projections revealed marked prominence of the pulmonary artery segment which was noted to pulsate vigorously during fluoroscopy. In addition, right atrial and right ventricular enlargement was present. The pulmonary vascular markings appeared normal. The electrocardiogram and vectorcardiogram (Fig 2) showed frontal QRS axis of 100', PR interval of 0.28 sec, QRS duration of 0.11 sec, and right bundle branch block with right ventricular hypertrophy. Another tracing obtained a few days previously showed intermittent second degree, Mobitz type 1 (Wenckebach), A-V block. A diagnosis of congenital absence of the pulmonary valve was made. Cardiac catheterization performed on November 26, 1969 demonstrated a left-to-right shunt localized by hydrogen inhalation curves and by angiocardiography to be at the atrial level. The right ventricular systolic pressure was low, and identical end-diastolic pressures of the right ventricle and pulmonary artery were observed. The electrocardiogram at this time revealed first degree A-V block, and His bundle electrograms were obtained. Following intravenous atropine and isoproterenol (Isuprel) infusion, shortening of the PH but not of the HQ intervals was observed (Table 1). Cineangiocardiography, with injection of contrast medium into the pulmonary trunk, demonstrated gross pulmonary regurgitation. The pulmonary trunk and main branches were markedly dilated, and the right ventricle was moderately enlarged. Immediate opacification of a large right atrium from a normalsized left atrium, across a suspected atrial septal defect, was noted. The left ventricle and aorta appeared normal. Open-heart surgery with the aid of cardiopulmonary bypass was done on May 5, 1970. Two secundum atrial septal defects measuring 1.5 X 1.0 cm and 0.5 X 0.5 ern, respectively, were closed by direct suture. The pulmonary trunk was aneurysmal and thin-walled, and had a maximal diameter of 7.5 em (Fig 3). On opening this vessel, only rudimentary valve-like tissues were noted. The proximal portion of the pulmonary trunk was resected, and a 2:4 ern diameter aortic homograft valve was sutured to the annulus and to the distal

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FIGURE 2. Preoperative electrocardiogram and vectorcardiogram showing partial A-V block, right bundle branch block and right ventricular hypertrophy. The lower tracing, obtained three days previously, showed Mobitz type I (Wenckebach) A-V block. border. This was followed by a grade 3/6 coarse ejection systolic murmur, showing peak intensity before midsystole and terminating before Sz, at the second and third left inters paces. An early diastolic murmur of similar frequency and intensity was also present along the left parasternal area, starting a brief interval after Sz and lasting through late diastole. The rest of the physical findings were normal. A phonocardiogram and carotid pulse tracing confirmed

Table I-Cardiac Catheteri;sation Data November 26,19690/ Patient, 20 Years Old, BSA 1.7 MZ His Bundle Studies

Right Heart Catheterization

Site

Pressure, (mm Hg)

Interval in msec.

O2 Saturation

%

IVC

82

SVC

74

Status Control

PH

HQ

175

45

RA

a=6 m=2.5 v=4

88

Atropine

90

45

RV

18/5

85

Control

150

50

PA

16/5 m=8

85

Isoproterenol (Isuprel)

90

55

PC

a=6 m=4 v=8

100

SA

90/45

58

98

Blood flow (L/Min/M2): Pulmonary = 5.0 Systemic = 2.8 QD/Q. = 1.8 Peripheral vascular resistance (dynes-sec-cm- s/M2BSA): Pulmonary = 64 Systemic = 1586

CHEST, VOL. 62, NO.1, JULY, 1972

102

CHIEMMONGKOLTIP ET AL

1 ......_ _

FIGURE 3. Findings at surgery. (A) The aneurysmal thin pulmonary trunk opened. (B) The exposed rudimentary pulmonary valve consisting mostly of knobbings of endocardial tissue (a"ows). ( C) The aortic valve homograft in place. RV - right ventricle; PT - pulmonary trunk; AV aortic valve homograft. pulmonary artery. Pressures (mm Hg) obtained postoperatively were: right ventricle 47/8; pulmonary artery 17/11; and left ventricle 97/9. Cardiac output obtained by an aortic electromagnetic flow probe was 4.4 L/min/M2. Hemodynamic studies using a Carolina electromagnetic flowmeter and a high fidelity catheter-tip transducer (P-866, Statham) were also done at the time of surgery. Using a vector approach for the display of ventricular function, 9 vector loops derived from left ventricular pressure and aortic phasic flow were obtained prior to and after bypass (Fig 4). Before bypass, the pressure-flow loops revealed left ventricular stroke power, stroke work and minute work of 443 grammeters per second, 97 gram-meters, and 9.70 kilogrammeters, respectively. Corresponding values obtained postPRE-BYPASS

POST - BYPASS

P-F

FLOW (ml/•• c) 150

SP = 443

SP = 425

100

SW = 97

SW

=

98

50

~

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o

50 100 PRESSURE (mmHg)

p- dP/dt

I:

dP/dt (mm Hg/•• cl

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( ..1

L

3000 2000 1000

o

50 100 PRESSURE (mm Hgl

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P -dP/dt

I,'

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C 1= 87 ••c- 1 CI =127••c-1 FIGURE 4. Vector display of left ventricular function before and after surgery. Time interruptions are 4 msec, and arrows indicate direction of inscription. From the areas of the pressure-flow loops (above), stroke power, stroke work and minute work have been derived. Note steeper slope of the initial (isovolumic) limb of the pressure-dP/ dt loop (below) after surgery, indicating improved contractility. SP - stroke power; SW - stroke work; MW - minute work; CI - contractility index.

bypass, and after removal of the caval cannulae, were ~5 gram-meters per second, 98 gram-meters, and 8.82 kilogrammeters, respectively. Vector loops derived from the ventricular pressure curve and from its first derivative, dP / dt, were also obtained before and after bypass. The ratio of dP/dt --IPwas derived from the slope of the initial segment of the loop (during isovolumic contraction) to estimate the myocardial contractile state. Before bypass, contractility index was 87 seeond-J, and after bypass 127 second-! (Fig 4). The postoperative course was uneventful, and the patient was discharged 12 days after surgery. He has remained asymptomatic, and follow-up examinations have demonstrated moderate splitting of S2 (0.05-0.07 sec), disappearance of the diastolic murmur, but persistence of systolic thrill and murmur at the upper left sternal border. Serial chest roentgenograms showed regression of heart size, although the pulmonary artery segment has remained prominent (Fig 1). No calcifications in the homograft site have been observed. The electrocardiograms during the first and second week after surgery demonstrated normal PR intervals (0.16 sec). However, subsequent tracings showed varying first degree and second degree (Wenckebach) A-V block. The vectorcardiograms also showed persistence of the right bundle branch block but slow regression of the right ventricular hypertrophy. Cardiac catheterization was repeated on March 17, 1971. The previous left-to-right atrial shunt was no longer demonstrated by hydrogen inhalation curves and by oximetry, but a significant systolic pressure gradient was noted across the pulmonary valve. Intravascular pressures (rom Hg) were: right atrium a = 7, v = 9, m = 6; right ventricle 52/7; pulmonary artery 19/ (m=13); and brachial artery 130/78 (m=90). Cardiac output was 5.5 L/min/M2. No angiocardiograms were performed. DISCUSSION

In 1969, Osman and co-workers- collected 40 proved cases of congenital absence of the pulmonary valve and added eight more of their own. Nine other cases have appeared in the English literature to make a total of at least 57. 10- 1 5 To our knowledge, the occurrence of atrial septal defect as the associated cardiac anomaly has not been previously described. Second degree A-V block,

CHEST, VOL. 62, NO.1, JULY, 1972

CONGENITAL ABSENCE OF PULMONARY VALVE observed in our case, also has not been reported. First degree A-V block has been mentioned only occasionally.16.17 Whether the partial A-V block in our case was related to the associated atrial septal defect is a matter of conjecture. Partial or complete A-V block in isolated secundum atrial septal defect is rare. The clinical data in our case, particularly the auscultatory findings, were quite typical of absence of the pulmonary valve. The age, lack of symptoms and the normal pulmonary vascular markings in the chest roentgenograms, suggested that the lesion could have been an isolated one. In spite of the dual mechanisms for the right ventricular volume overload, namely, the left-to-right atrial shunt and the pulmonary regurgitation, it is of interest that the pressures in the right heart chambers were not elevated. In fact, the systolic pressures in the right ventricle and pulmonary artery were low in spite of the obviously large stroke volumes. This can only be explained by increased compliance of the aneurysmal pulmonary compression chamber. The pulmonary or right ventricular hypertension in the previously reported cases must have been chiefly due to the associated large ventricular septal defects. The equalization of the late diastolic pressures of the right ventricle and pulmonary artery, observed in our case, is a well known phenomenon in gross pulmonary regurgitation. Because of the paucity of reports on congenital absence of the pulmonary valve occurring as an isolated anomaly--'-" the prognosis of patients with this condition is not known. Severe heart failure has been observed in the immediate neonatal period. I .r On the other hand, absence of the pulmonary valve was an accidental autopsy finding on a 73-year-old man who had acquired aortic insufficiency from bacterial endocarditis." The low pressure, low-resistance pulmonary vascular bed in our case obviously played an important role in maintaining his asymptomatic state. Nevertheless, because of the right heart enlargement and of the atrial septal defect, corrective surgery was done. The ventricular function studies at the time of surgery were confined to those of the left heart since no adequate-sized flow probe for the aneurysmal pulmonary trunk was available. Right ventricular contractility indices before and after cardiopulmonary bypass, determined similarly to those of the left ventricle, would have been most informative. The hemodynamic studies at the time of surgery, and the clinical as well as repeat hemodynamic evaluations following surgery, indicate that pulmonary valve competency has been maintained. However, mild pulmonary stenosis, most likely due to narrowing of the homograft valve ring, appeared immediately following surgery and has persisted. The long-term fate of this graft cannot be predicted but there is suggestive evidence, in adults at least, that this type of valve is preferable to prosthetic ones for aortic valve replacement.P Aortic valve homograft for the treatment of this condition has also been reported once previously.!" We believe that it is the procedure of choice for the correction of this anomaly.

CHEST, VOL. 62, NO.1, JULY, 1972

103 REFERENCES

Smith RD, DuShane JW, Edwards JE: Congenital insufficiency of the pulmonary valve, including a case of fetal cardiac failure. Circulation 20:554, 1959 2 Campeau L, Gilbert G, Aerichide N: Absence of the pulmonary valve. Report of two cases associated with other congenital lesions. Amer J Cardiol 8:113, 1961 3 Ruttenberg HD, Carley LS, Adams P, Jr. et al: Absence of the pulmonary valve in the tetralogy of FaIlot. Amer J Roentgen 91 :500, 1964 4 D'Cruz lA, Lendrum BL, Novak G: Congenital absence of the pulmonary valve. Amer Heart J 68:728,1964 5 Osman MZ, Meng CCL, Girdany BR: Congenital absence of the pulmonary valve. Report of eight cases with review of the literature. Amer J Roentgen 106:58, 1969 6 Ehrenhaft JL: Discussion of paper by EIIison RG, Brown

WJ, Jr, Hague EE, et al: Physiological observations in experimental pulmonary insufficiency. J Thorac Surg 30:641, 1955

7 Ito T, Engle MA, Holswade GR: Congenital insufficiency of pulmonic valve: Rare cause of neonatal heart failure. Pediatrics 28:712, 1961 8 Pouget JM, Kelly CE, Pilz CG: Congenital absence of the pulmonary valve. Report of a case in a 73 year old man. Amer J Cardiol 19:732, 1967 9 Arcilla RA, Replogle RL: Vector analysis of ventricular function-an approach to the study of myocardial performance. Soc Ped Res Abstr 1970, p 36 10 Roger BF, Wilson JD: Incomplete heterotaxy with unusual heart malformations. Case report. Arch Pediat 25:881, 1908 11 Venables AW : Absence of pulmonary valve with ventricular septal defect. Brit Heart J 24:293, 1962 12 Baker WP, Kelminson LL, Turner WM, et al: Absence of

pulmonic valve associated with double outlet right ventricle. Circulation 36:452, 1967

13 Weldon C, Rowe RD, Gott VL: Clinical experience with

the use of aortic valve homografts for reconstruction of the pulmonary artery, pulmonary valve, and outflow portion of the right ventricle. Circulation 37 (Supp 2): 51, 1968 14 Waldhausen JA, Friedman S, Nicodemus H, et al: Ab-

sence of the pulmonary valve in patients with tetralogy of FaIlot. Surgical management. J Thorac Cardiovasc Surg 57 :669, 1969

15 Macartney FJ, Miller GAH: Congenital absence of the pulmonary valve. Brit Heart J 32:483, 1970 16 Lavennes F, Tyberghein J, Brasseur L, et al: Complex

d'Eisenmenger avec insufficience pulmonaire par absence de valvules. Acta Cardiol (BruxeIle) 9:249, 1954 17 Miller RA, Lev M, Paul MH: Congenital absence of the

pulmonary valve. The clinical syndrome of tetralogy of Fallot with pulmonary regurgitation. Circulation 26:266, 1962

18 WaIlace RB, Giuliani ER, Titus JL: Use of aortic valve

homografts for aortic valve replacement. Circulation 43:365, 1971