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The diagnosis of aorticopulmonary septal defect
Case reports
The diagnosis of caorticopulmonary A case
report
with
septal
successful
defect
surgical
closure
M. Parker, M.D.* Thomas H. Burford, M.D. Erik C. Carlsson, M.D. Edward F. Buchner, M.D.** St. Louis, MO.
Brent
A
orticopulmonary septal defect,1-5which has also been less appropriately termed aortic pulmonary window, partial truncus arteriosus, aortic septal defect, and aortic +&zonary Jistu14q3 is a relatively rare congenital anomaly that arises from defective partition of the primitive truncus arteriosus. Complete failure of growth of the elevated longitudinal ridges which arise on opposite sides of the common pulmonary artery-aortic trunk results in a persistent truncus arteriosus. A partial defect in the development and fusion of the ridges causes an aorticopulmonary septal defect (APSD).‘j The defects vary widely in size (4 to 50 mm.),’ and occur between the ascending aorta and the main pulmonary artery, 1.5 cm. or less above the aortic and pulmonic valves.8 The semilunar valves themselves are normal.4z5 An aorticopulmonary septal defect is often erroneously diagnosed as a patent ductus arteriosus (PDA). This mistaken interpretation leads to an operation which is often unsuccessful. In the case to be reported the correct diagnosis was susFrom
the Departments St. Louis. MO. Received for publication *Addrew Department MO.
**Former Term.
534
of Medicine,
Thoracic
May 28. 1962. of Medicine. Washington
St. Louis Heart Association
petted after right ventricular angiography and was confirmed by retrograde aortography. A surgical procedure that utilized cardiopulmonary bypass resulted in successful closure of the defect. Case report A 34-year-old white man entered Barnes Hospital for the first time on April 20, 1953, at the age of 28 years. The patient had been noted to have a heart murmur at birth and had been restricted from sports. Nevertheless, he did well, noting only mild dyspnea on exertion and easy fatigue. During the previous year he developed increasing dyspnea and fatigue, intermittent cyanosis with exertion, and several episodes of mild hemoptysis. Bronchoscopy performed elsewhere was negative, and the patient was referred with a diagnosis of mitral stenosis. The positive physical findings were limited to the heart and thorax. A slight left precordial bulge was noted. No thrill was palpable. The second sound in the pulmonic area was strikingly increased. A faint diastolic murmur was heard in the pulmonic area and along the left sternal border, and one observer described a faint mitral diastolic rumbling murmur. The initial clinical impression was rheumatic heart disease with mitral stenosis. The hemoglobin was 17.1 Gm., but other routine laboratory studies were within normal limits. The electrocardiogram revealed left ventricular en-
Surgery,
University
Fellow in Cardiology.
and
Radiology,
Washington
School
of Medicine,
Present
address:
University
600 South Baroness
School
Kingshighway.
Erlanger
Hospital,
of
Medicine,
St. Louis Chattanooga.
10,
j’olume
65
Number
4
Fig. 1. Electrocardiogram tricular hypertrophy.
Diagnosis
taken Occasional
of aorticopulmonary
on Jan. 30, 1960. The changes were considered ventricular premature contractions are present.
largement on the basis of high voltage alone. The chest roentgenogram demonstrated left and right ventricular enlargement, a full pulmonary artery segment, and an increase in size of the pulmonary vasculature. Cardiac catheterization was performed by Dr. Bernard Bercu, in order to evaluate the possibility of congenital heart disease. The results (see Table I) were interpreted as indicating pulmonary hypertension due to a high ventricular septal defect or a defect at the level of the pulmonary artery. A retrograde aortogram was attempted via the right brachial artery, with injection of 10 C.C. of 70 per cent Urokon into the right subclavian artery. Unfortunately, the aorta was not visualized. The final diagnosis at the time of the patient’s discharge was interventricular septal defect. The patient was rehospitalized because of hemoptysis on Oct. 28, 1954, with the same complaints and findings. At this time the hemoglobin was 14.2 Gm.; arm-to-tongue circulation time with Decholin was 10 seconds, and venous pressure was 105 mm. of saline. The right femoral arterial oxygen saturation at rest was 96.6 per cent. Several studies of the sputum for acid-fast bacilli were negative. After the patient was discharged in November, 1954, he developed substernal squeezing, nonradiating chest pain which was precipitated by exertion or excitement, and which subsided within 1 hour. The pain slowly became worse over several years. Several months before admission to the hospital he noted an increase in dyspnea on exertion, and exertional cyanosis. Limitation of fatigue, activity became severe. For these reasons the patient
sepal defect
to be compatible
53.5
with
biven-
was admitted to Barnes Hospital for the third time on Jan. 29, 1960. At no time had he experienced ankle edema, orthopnea, paroxysmal nocturnal dyspnea, unusual susceptibility to respiratory infections, or acute rheumatic fever. The blood pressure was 130/90 mm. Hg, pulse 84, respiration 20, and temperature 37°C. Clubbing and cyanosis were absent. The only positive findings
Table I. Catheterization
studies I
1953
i
--.~ Oxygen satura-
Chamber
ti0n
(%I svc IVC RA Low RV High RV PA RFA RBA rest RBA exercise
Pressure (mm.%)
61 60 60 67 79
1960
/-.--.-------...
6/l 120/o 120/60
Oxygen saturation (56) 51 56 56 53 57 76 97.3 98.2 97.0
Pressure (mm.Hg) .-6 120/7 120/72
536
Parker,
Bwford,
Carlsson,
and Buchner
Fig. 2. A, Chest film taken on Jan. 30, 1960. Hiventricular and left atria1 enlargement were noted. The central pulmonary arteries were dilated but the vessels tapered rapidly in the peripheral lung fields. B, Chest film taken July 20, 1960. In comparison with the previous film the pulmonary vascularity has decreased and there has been a minimal reduction in heart size.
Am. Heart 1. April, 1963
were elicited on cardiac examination. There was left precordial prominence, a loud pulmonic second sound with a fixed split, a soft systolic ejection murmur along the left sternal border, and a faint early diastolic blowing murmur that was heard at the lower left sternal border. The electrocardiogram was consistent with biventricular hypertrophy (Fig. 1). Left atria1 enlargement, biventricular enlargement, and central pulmonary vascular engorgement with rapid tapering in the outer one third of the lung fields were seen on chest roentgenogram (Fig. 2,A). The hemoglobin was 16.8 Gm. Other routine laboratory tests were negative. Femoral and brachial arterial oxygen saturations (Table I) were normal before and after exercise. Catheterization of the right side of the heart again revealed striking pulmonary hypertension, with the increase in oxygen saturation occurring in the pulmonary artery (Table I). III order to define the anatomy of the lesion further, selective angiocardiography was performed, using 48 C.C. of 50 per cent Hypaque, with the tip of the No. 10 N.I.H. angiocardiographic catheter in the right ventricle. This site of injection was chosen so that a ventricular septal defect could be excluded. The radiopaque dye was injected in 1 second under a pressure of 5 Kg. per centimeter, u?Jng a Gidlund automatic injector. The study demonstrated that there was no right-to-left shunt across the ventricular septum. The pulmonic valves were thickened but not stenotic. The peripheral pulmonary arteries were markedly narrowed. The most striking findings were marked dilatation of the main pulmonary artery and a dilution effect a few centimeters above the pulmonic valve, far anteriorly and to the right (Fig. 3,A and B). The unusual location of the dilution effect suggested the presence of an APSD or a PD.4 with an atypical opening. In view of the angiographic findings it was necessary to perform aortography. A No. 10 N.I.H. catheter was introduced through the exposed right femoral artery and passed into the ascending aorta. Forty-five cubic centimeters of 50 per cent Hypaque was introduced through the automatic injector, and an aorticopulmonary septal defect, 5 cm. in longitudinal diameter, was demonstrated, 1 cm. above the aortic valve. Dye readily entered the pulmonary artery from the ascending aorta (Fig. 4, A and B). A corrective operation utilizing cardiopulmonary bypass was carried out on April 19, 1960. When exposed, the right heart was found to be massively enlarged. The communication between the ascending aorta and pulmonary artery was 5 by 3 cm. in size and was located 1 cm. above the normal pulmanic and aortic valves. The pulmonary artery was three times normal in size, whereas the aorta beyond the communication was smaller than normal by one half. The aorta was cross-clamped and opened proximal to the clamp. The defect was closed through the aortotomy, using interrupted No. 3-O silk sutures. Closure was complete, without compromise of the lumen of either vessel. After 15 minutes of anoxic arrest, the cross-clamp was removed and regular heart action promptly ensued. The postoperative course was satisfactory, escept for the development of transient atria1 fibril-
Diagnosis
of aorticopulmonary
septal defect
537
lation and several bouts of fever and pleuritic substernal chest pain which was relieved by sitting forward. The latter conditions were considered to be episodes of the postcardiotomy syndrome. At present, 24 months after operation, the patient has shown a gradual improvement in exercise tolerance and a decrease in intensity of the pulmonic second sound. Chest pain has been absent. The murmurs are unchanged, but there has been a slight decrease in heart size and pulmonary vascularity on the chest film (Fig. 2,B).
Discussion
Fig. 3. A, Lateral view of right ventricular angiogram. Note the location of the dilution effect (arrow) just above the pulmonic valve and far anteriorly. The pulmonary artery (PA) is markedly dilated. The right ventricle (RV) and its infundibulum (INF) are also filled. B, Anteroposterior view of right ventricular angiogram. The dilution effect (arrow) is somewhat to the right of the usual location of a patent ductus arteriosus. PA: Main pulmonary artery. RPA: Right pulmonary artery. INF: Infundibulum of the right ventricle.
The relative infrequency of APSD is indicated by the fact that fewer than 100 cases have been reported,4~5.7~9-11 and that the correct clinical diagnosis was not made before 1949.g The present case was the first recognized at Barnes Hospital. SkallJensen’ found 62 cases in a review of the literature to 1956. The diagnosis was established during life in only 38 of the patients. In 28 of the 38 the presence of the APSD was not appreciated prior to the time of operation, which was generally performed for a suspected patent ductus arteriosus. Thus, clinical preoperative or prernortem diagnosis was correct in only 10 of 62 cases. From the foregoing it is apparent that recognition of an APSD is difficult.” The clinical features of the anomaly (see Table II) do not allow certain separation from: (1) patent ductus arteriosus, (2) ruptured aneurysm of a sinus of Valsalva into a right heart chamber, (3) ventricular septal defect with either pulmonary hypertension or aortic insufficiency, (4) pulmonary hypertension with pulmonic insufficiency, (5) rheumatic heart disease with aortic stenosis and insufficiency, or (6) a truncus arteriosus.4~5~11*12~16~17 Most of these lesions may give rise to pulmonary overcirculation, and each may cause a systolic and/or diastolic murmur along the left sternal border. A late onset of the heart murmur and symptoms would point to a ruptured aneurysm of a sinus of Valsalva. A major increase in right ventricular oxygen saturation
during
cardiac
catheterization
would
focus attention upon a ventricular septal defect. one should note, however, that a left-to-right shunt at the level of the pulmonary artery may cause an increase in right ventricular oxygen saturation if there is insufficiency of the pulmonic valve.5 To add further difficulty, the oxy-
538
Parker,
Burford,
Carlsson,
and Buchner
gen step up due to a high ventricular
septal
defect may first be detected in the main pulmonary artery. Passage of the catheter into the left ventricle and aorta, or right ventricular angiography, should afford a diagnosis in a case of ventricular septal defect with pulmonary hypertension or in a caseof truncus arteriosus. The major diagnostic difficulty is between APSD and PDA.3,11.13,15-18Both lesions give rise to a left-to-right shunt at the level of the pulmonary artery and ma) be identical in manifestati0ns.j Certain suggestive clinical differences have been noted, however. These are listed in Table III. Although none of the tabulated features allows a clear separation between the two lesions, the presence of any atvpical features in a suspected PDA necessitates further diagnostic evaluation.4 Catheterization of the right side of the heart may provide useful data of several kinds.? As previously noted, location of the increase in oxygen provides an important diagnostic aid. In addition, the pulmonary arterial pressures and an estimation of the magnitude of shunt flow are valuable in evaluating operability.lg Positive diagnostic information may be forthcoming from catheterization of the right side of the heart if the catheter passes through the defect. In patent ductus arteriosus the catheter enters the descending aorta and passes downward, whereas, if an APSD is present, the catheter enters the ascending aorta and moves cephalad into the aortic arch or carotid se1s.1,4.5r11,2n,21 Fluoroscopy in the
Fig. eter
4. A, Lateral view is placed in the
main pulmonary
of the aortogram. ascending aorta
The (Ao).
cathThe
artery (PA) and right pulmonary
artery (RPA) fill from the ascending aorta above the aortic valves. B, Anteroposterior of the aortogram. Note the marked filling pulmonary artery main (PA) and right (RPA)
the aorta (Ao) through the aortic valves. The of the right pulmonary
just view
of the from
a large defect just above arrows artery.
delineate
the margins
veslateral
position will reveal the catheter to be anterior in APSD and posterior in PD.%’ Catheterization of the defect and analysis of the location of the catheter in the aorta was the method by which the correct diagnosis was reached in 8 of the 10 diagnosed casesreviewed by Skall-Jensen.7 In the case described herein the catheter did not enter the defect. The correct tliagnosis was first suspected as a result of the unusually anterior and right-sided location of the dilution effect during angiography of the right side of the heart. This hitherto unmentioned sign is not diagnostic, but was suggestive enough to warrant retrograde aortography. Retrograde aortography
1x1s proved
to be a valuable
tcch-
Diagnosis
Table II. Clinical features of APSD in approximate decreasing order of freqUenCy2,4,5,7~9~12-15
symptoms
Signs I
Increased pulmonic second sound Wide pulse pressure
Dyspnea on exertion Fatigue Recurrent tions
respiratory
infec-
Physical underdevelopment Syncope
Systolicmurmuralong left sternal border
Diphasic systolic and diastolic murmur Continuous murmur Cyanosis Clubbing Diastolic
murmur
of
pulmonic insufficiency alone Apical diastolic flow murmur Diastolic gallop rhythm
Precordial bulge Right heart failure No murmur
nique for defining lesions of the thoracic aorta.22 Surprisingly, despite the fact that most authors agree that aortography is the method of choice in establishing the presence of an APSD, there are only a few reports of the diagnosis being substantiated in this rnanner.5,7,10,23-25 As demonstrated in this report (Fig. 4), this technique affords an excellent demonstration of the anatomy of the defect. Braunwald and Corne11z3 have recently described a dilution method for separating a defect of the aortic root from a patent ductus by injecting Kr85 at several levels in the aorta and sampling in the brachial artery. This method involves catheterization of the ascending aorta. We believe that the injection of contrast into the ascending aorta provides a more certain method of establishing the diagnosis, and it certainly exhibits anatomic details not accessible to any other technique. In any instance of suspected but atypical patent ductus or suspected APSD in which catheterization of the right side of the heart fails to prove the diagnosis, retrograde aortography should be performed.7,12*14p26 The age of our patient warrants brief comment. Survival until the age of 36,
of aorticopulmonary
septal defect
539
as in our case, is distinctly unusual. SkallJensen’ found no patients over the age of 30 years. Dadds,g however, in surveying the earlier literature concerning this disease, noted survival of 2 patients td ages 37 and 48.g Neufeld and associates5 in their review encountered 7 patients who survived beyond the age of 26. None of these patients was treated surgically, and confirmation of the diagnosis was obtained at necropsy in each instance. Most authorities now agree that APSD should be approached surgically, using the cardiopulmonary bypass.2z5 Early attacks without such support resulted in a high surgical mortality (about 50 per cent).l,2,4~5~8~1g~25 Unless the lesion can be demonstrated by aortography to be unusually high, small and ductlike, allowing ligation, an excellent approach is through the aorta or pulmonary artery, with direct suture closure of the defect. One of the presently unsolved problems in the selection of patients for cardiac surgery is the paucity of precise information in regard to the natural history and rate of progression of certain of the congenital heart lesions. In our case there was
Table I II. Observations suggestive of the presence of an APSD when a PDA is the presumptive diagnosis I. A continuous, machinery like murmur heard lower and more to the midline than usual for a
PDA3 2. A continuous or double murmur which appears to be more superficial than the murmur of a patent ductus9J6 3. A systolic murmur only located along the upper left sternal border, associated with pulmonary overcirculation6~7~9J3 murmur along the upper or mid left 4. A sytolic sternal border, followed by a separate noncontinuous early diastolic murmur’J3 5. Unusually severe clinical features for patent ductus7,L7 A. Dyspnea at rest or with very little effortI B. Aneurysmal dilatation of the pulmonary artery2 C. Greater cardiac enlargement than usual9 6 Small aortic knob4J 7 . Location of the dilution effect to the right and anterior to the usual site of emptying of a ductus, on angiocardiography performed with the tip of the catheter in the right ventricle or main pulmonary artery
540
Parker, Burford, Carlsson, and Buchner
no increase in the pulmonary arterial pressure nor change in the magnitude of the shunt over a period of 7 years. The selection of patients for operation when the pulmonary arterial pressure is at systemic levels warrants brief discussion. We have adopted the view, well expressed by DuShane and Kirklin,lg that operation should be performed even in the presence of severe pulmonary hypertension if there is a continuing, appreciable left-to-right shunt, as evidenced by an oxygen jump in the pulmonary artery, by left ventricular enlargement on the electrocardiogram, by overcirculation of the lung fields on the chest roentgenogram, and by an overactive heart with a loud murmur. If pulmonary blood flow is reduced by closing the defect, then pulmonary resistance, pressure, and eventually perhaps even the pulmonary vascular changes themselves may be reduced. On the other hand, predominant right-to-left shunting, as evidenced by cyanosis at rest, predominant right ventricular enlargement, and absence of an oxygen increase in the pulmonary artery, contraindicates operation. Closure of the defect in this situation increases pulmonary blood flow without reducing resistance and leads to greater degrees of pulmonary hypertension and right heart failure. The presence of a continuing large left-to-right shunt in our patient indicated that there was a reasonable chance that an operation would be successful, despite the pulmonary hypertension at systemic levels. To date (24 months after operation) the results have been gratifying. Summary
(1) A case is reported of successful repair of an aorticopulmonary septal defect despite pressures at a systemic level in the pulmonary artery. (2) The correct diagnosis was first suggested by the location of the dilution effect in the pulmonary artery on angiography, and was confirmed by retrograde aortography. (3) The clinical and catheterization features which are useful in the recognition of aorticopulmonary septal defects have been reviewed. REFERENCES 1. Fletcher, G., DuShane, J. W., Kirklin, and Wood, E. H.: Aortic-pulmonary defect: Report of a case with surgical
J. W., septal division,
2.
3.
4.
5.
6.
Proc. Staff Meet. Mayo Clin. 29:285, 19.54. Cooley, D. A., McNamara, D. G., and Latson, J. R.: Aorticopulmonary septal defect: diagnosis and surgical treatment, Surgery 42:101, 1957. Baronofsky, I. D., Gordon, A. J., Grishman, A., Steinfeld, L., and Kreel, I.: Aorticopulmonary septal defect. Diagnosis and report of case successfully treated, Am. J. Cardiol. 5:273, 1960. Somerville, J.: Aortopulmonary septal defect. Five cases treated bv oDeration. Guv’s HOSD. Rep. 108:177, 1959. - ’ . A Neufeld, H. C., Lester, R. G., Adams, I’., Jr., Anderson, R. C., Lillehei, C. W., and Edwards, J. E.: Aorticopulmonary septal defect, Am. J. Cardiol. 9:12, 1962. Potter, E. L.: Pathology of the fetus and the newborn, Chicago, 1952, Year Book Publishers, 11X.
7. Skall-Jensen, J.: Congenital aorticopulmonary fistula. A review of the literature and report of 2 cases, Acta med. scandinav. 160:221, 1958. 8. Gross, R. E.: Surgical closure of an aortic septal defect, Circulation 5:858, 1952. 9. Dadds, J. H., and Hoyle, C.: Congenital aortic septal defect, Brit. Heart J. 11:390, 1949. 10. Spencer, H., and Dworken, H. J.: Congenital aortic septal defect with communication between aorta and pulmonary artery, Circulation 2:880, 19.50. 11. D’Heer, H. ,4. H. and van Nieuwenhuizen, C. L. C.: Diagnosis of congenital aortic septal defects. Description of two cases and special emphasis on a new method which allows an accurate diagnosis by means of cardiac catheterization, Circulation 13:.58, 1956. 12. Sprengel, R. A., and Brown, A. F.: Aortic septum defect, AM. HEART J. 48:796, 1954. 13. Gibson, S., Potts, W. J., and Langewisch, W. H.: Aortic-pulmonary communication due to localized congenital defect of the aortic septum, Pediatrics 6:357, 1950. 14. Downing, D. F.: Congenital aortic septal defect, AM. HEART J. 40:285, 1950. 1.5. Adams, F. H., Diehl, A., Jorgens, J., and Veasy, L. G.: Right heart catheterization in patent ductus arteriosus and aortic pulmonary septal defect, J. Pediat. 40:49, 1952. 16. King, F. H., Gordon, A., Brahms, S., Lasser, R., and Borun, R.: Aortic septal defect simulating patent ductus arteriosus, J. Mt. Sinai Hosp. 17:310, 1951. 17. Keith, J. D., Rowe, R. D., and Vlad, I’.: Heart disease in infancy and childhood, New York, 19.58, The Macmillan Company, p. 528. 18. Nuboer, J. F.: Sur le traitement du defaut de septum du tronc arteriel, Poumon Coeur 12:121, 1956. 19. DuShane, J. W. and Kirklin, J. W.: Selection for surgery of patients with ventricular septal defect and pulmonary hypertension, Circulation 21:13, 1960. 20. Downing, D. F., Bailey, C. P., Maniglia, Ii. and Goldberg, H.: Defect of the aortic septum, AM. HEART J. 45:305, 19.53. 21. Shumway, N. E., and Lewis, F. J.: The closure
Diagnosis
22.
23.
of experimental aortic septal defects under direct vision and hypothermia, Surgery 39:604, 1956. Jonsson, G., Broden, B., and Karnell, J.: Thoracic aortography, Acta radiol. Suppl. 89, 1951. Braunwald, E., and Cornell, W. P.: A simplified technic for the detection of patent ductus arteriosus and of other left to right shunts originating from the aorta, Circulation 23:279, 1961.
24.
25.
26.
of aorticopulmonary
septal; defect
541
Gasul, B. M., Fell, E. H., and Casas, R.: The diagnosis of aortic septal defect by retrograde aortography. Report of a case, Circulation 4:251, 1951. Scott, H. W., Jr., and Sabiston, D. C., Jr.: Surgical treatment for congenital aorticopulmonary fistula, experimental and clinical aspects, J. Thoracic Surg. 25:26, 1953. Abrams, H. L., editor: Angiography, Boston, 1961, Little, Brown &Company.
The diagnosis of caorticopulmonary A case
report
with
septal
successful
defect
surgical
closure
M. Parker, M.D.* Thomas H. Burford, M.D. Erik C. Carlsson, M.D. Edward F. Buchner, M.D.** St. Louis, MO.
Brent
A
orticopulmonary septal defect,1-5which has also been less appropriately termed aortic pulmonary window, partial truncus arteriosus, aortic septal defect, and aortic +&zonary Jistu14q3 is a relatively rare congenital anomaly that arises from defective partition of the primitive truncus arteriosus. Complete failure of growth of the elevated longitudinal ridges which arise on opposite sides of the common pulmonary artery-aortic trunk results in a persistent truncus arteriosus. A partial defect in the development and fusion of the ridges causes an aorticopulmonary septal defect (APSD).‘j The defects vary widely in size (4 to 50 mm.),’ and occur between the ascending aorta and the main pulmonary artery, 1.5 cm. or less above the aortic and pulmonic valves.8 The semilunar valves themselves are normal.4z5 An aorticopulmonary septal defect is often erroneously diagnosed as a patent ductus arteriosus (PDA). This mistaken interpretation leads to an operation which is often unsuccessful. In the case to be reported the correct diagnosis was susFrom
the Departments St. Louis. MO. Received for publication *Addrew Department MO.
**Former Term.
534
of Medicine,
Thoracic
May 28. 1962. of Medicine. Washington
St. Louis Heart Association
petted after right ventricular angiography and was confirmed by retrograde aortography. A surgical procedure that utilized cardiopulmonary bypass resulted in successful closure of the defect. Case report A 34-year-old white man entered Barnes Hospital for the first time on April 20, 1953, at the age of 28 years. The patient had been noted to have a heart murmur at birth and had been restricted from sports. Nevertheless, he did well, noting only mild dyspnea on exertion and easy fatigue. During the previous year he developed increasing dyspnea and fatigue, intermittent cyanosis with exertion, and several episodes of mild hemoptysis. Bronchoscopy performed elsewhere was negative, and the patient was referred with a diagnosis of mitral stenosis. The positive physical findings were limited to the heart and thorax. A slight left precordial bulge was noted. No thrill was palpable. The second sound in the pulmonic area was strikingly increased. A faint diastolic murmur was heard in the pulmonic area and along the left sternal border, and one observer described a faint mitral diastolic rumbling murmur. The initial clinical impression was rheumatic heart disease with mitral stenosis. The hemoglobin was 17.1 Gm., but other routine laboratory studies were within normal limits. The electrocardiogram revealed left ventricular en-
Surgery,
University
Fellow in Cardiology.
and
Radiology,
Washington
School
of Medicine,
Present
address:
University
600 South Baroness
School
Kingshighway.
Erlanger
Hospital,
of
Medicine,
St. Louis Chattanooga.
10,
j’olume
65
Number
4
Fig. 1. Electrocardiogram tricular hypertrophy.
Diagnosis
taken Occasional
of aorticopulmonary
on Jan. 30, 1960. The changes were considered ventricular premature contractions are present.
largement on the basis of high voltage alone. The chest roentgenogram demonstrated left and right ventricular enlargement, a full pulmonary artery segment, and an increase in size of the pulmonary vasculature. Cardiac catheterization was performed by Dr. Bernard Bercu, in order to evaluate the possibility of congenital heart disease. The results (see Table I) were interpreted as indicating pulmonary hypertension due to a high ventricular septal defect or a defect at the level of the pulmonary artery. A retrograde aortogram was attempted via the right brachial artery, with injection of 10 C.C. of 70 per cent Urokon into the right subclavian artery. Unfortunately, the aorta was not visualized. The final diagnosis at the time of the patient’s discharge was interventricular septal defect. The patient was rehospitalized because of hemoptysis on Oct. 28, 1954, with the same complaints and findings. At this time the hemoglobin was 14.2 Gm.; arm-to-tongue circulation time with Decholin was 10 seconds, and venous pressure was 105 mm. of saline. The right femoral arterial oxygen saturation at rest was 96.6 per cent. Several studies of the sputum for acid-fast bacilli were negative. After the patient was discharged in November, 1954, he developed substernal squeezing, nonradiating chest pain which was precipitated by exertion or excitement, and which subsided within 1 hour. The pain slowly became worse over several years. Several months before admission to the hospital he noted an increase in dyspnea on exertion, and exertional cyanosis. Limitation of fatigue, activity became severe. For these reasons the patient
sepal defect
to be compatible
53.5
with
biven-
was admitted to Barnes Hospital for the third time on Jan. 29, 1960. At no time had he experienced ankle edema, orthopnea, paroxysmal nocturnal dyspnea, unusual susceptibility to respiratory infections, or acute rheumatic fever. The blood pressure was 130/90 mm. Hg, pulse 84, respiration 20, and temperature 37°C. Clubbing and cyanosis were absent. The only positive findings
Table I. Catheterization
studies I
1953
i
--.~ Oxygen satura-
Chamber
ti0n
(%I svc IVC RA Low RV High RV PA RFA RBA rest RBA exercise
Pressure (mm.%)
61 60 60 67 79
1960
/-.--.-------...
6/l 120/o 120/60
Oxygen saturation (56) 51 56 56 53 57 76 97.3 98.2 97.0
Pressure (mm.Hg) .-6 120/7 120/72
536
Parker,
Bwford,
Carlsson,
and Buchner
Fig. 2. A, Chest film taken on Jan. 30, 1960. Hiventricular and left atria1 enlargement were noted. The central pulmonary arteries were dilated but the vessels tapered rapidly in the peripheral lung fields. B, Chest film taken July 20, 1960. In comparison with the previous film the pulmonary vascularity has decreased and there has been a minimal reduction in heart size.
Am. Heart 1. April, 1963
were elicited on cardiac examination. There was left precordial prominence, a loud pulmonic second sound with a fixed split, a soft systolic ejection murmur along the left sternal border, and a faint early diastolic blowing murmur that was heard at the lower left sternal border. The electrocardiogram was consistent with biventricular hypertrophy (Fig. 1). Left atria1 enlargement, biventricular enlargement, and central pulmonary vascular engorgement with rapid tapering in the outer one third of the lung fields were seen on chest roentgenogram (Fig. 2,A). The hemoglobin was 16.8 Gm. Other routine laboratory tests were negative. Femoral and brachial arterial oxygen saturations (Table I) were normal before and after exercise. Catheterization of the right side of the heart again revealed striking pulmonary hypertension, with the increase in oxygen saturation occurring in the pulmonary artery (Table I). III order to define the anatomy of the lesion further, selective angiocardiography was performed, using 48 C.C. of 50 per cent Hypaque, with the tip of the No. 10 N.I.H. angiocardiographic catheter in the right ventricle. This site of injection was chosen so that a ventricular septal defect could be excluded. The radiopaque dye was injected in 1 second under a pressure of 5 Kg. per centimeter, u?Jng a Gidlund automatic injector. The study demonstrated that there was no right-to-left shunt across the ventricular septum. The pulmonic valves were thickened but not stenotic. The peripheral pulmonary arteries were markedly narrowed. The most striking findings were marked dilatation of the main pulmonary artery and a dilution effect a few centimeters above the pulmonic valve, far anteriorly and to the right (Fig. 3,A and B). The unusual location of the dilution effect suggested the presence of an APSD or a PD.4 with an atypical opening. In view of the angiographic findings it was necessary to perform aortography. A No. 10 N.I.H. catheter was introduced through the exposed right femoral artery and passed into the ascending aorta. Forty-five cubic centimeters of 50 per cent Hypaque was introduced through the automatic injector, and an aorticopulmonary septal defect, 5 cm. in longitudinal diameter, was demonstrated, 1 cm. above the aortic valve. Dye readily entered the pulmonary artery from the ascending aorta (Fig. 4, A and B). A corrective operation utilizing cardiopulmonary bypass was carried out on April 19, 1960. When exposed, the right heart was found to be massively enlarged. The communication between the ascending aorta and pulmonary artery was 5 by 3 cm. in size and was located 1 cm. above the normal pulmanic and aortic valves. The pulmonary artery was three times normal in size, whereas the aorta beyond the communication was smaller than normal by one half. The aorta was cross-clamped and opened proximal to the clamp. The defect was closed through the aortotomy, using interrupted No. 3-O silk sutures. Closure was complete, without compromise of the lumen of either vessel. After 15 minutes of anoxic arrest, the cross-clamp was removed and regular heart action promptly ensued. The postoperative course was satisfactory, escept for the development of transient atria1 fibril-
Diagnosis
of aorticopulmonary
septal defect
537
lation and several bouts of fever and pleuritic substernal chest pain which was relieved by sitting forward. The latter conditions were considered to be episodes of the postcardiotomy syndrome. At present, 24 months after operation, the patient has shown a gradual improvement in exercise tolerance and a decrease in intensity of the pulmonic second sound. Chest pain has been absent. The murmurs are unchanged, but there has been a slight decrease in heart size and pulmonary vascularity on the chest film (Fig. 2,B).
Discussion
Fig. 3. A, Lateral view of right ventricular angiogram. Note the location of the dilution effect (arrow) just above the pulmonic valve and far anteriorly. The pulmonary artery (PA) is markedly dilated. The right ventricle (RV) and its infundibulum (INF) are also filled. B, Anteroposterior view of right ventricular angiogram. The dilution effect (arrow) is somewhat to the right of the usual location of a patent ductus arteriosus. PA: Main pulmonary artery. RPA: Right pulmonary artery. INF: Infundibulum of the right ventricle.
The relative infrequency of APSD is indicated by the fact that fewer than 100 cases have been reported,4~5.7~9-11 and that the correct clinical diagnosis was not made before 1949.g The present case was the first recognized at Barnes Hospital. SkallJensen’ found 62 cases in a review of the literature to 1956. The diagnosis was established during life in only 38 of the patients. In 28 of the 38 the presence of the APSD was not appreciated prior to the time of operation, which was generally performed for a suspected patent ductus arteriosus. Thus, clinical preoperative or prernortem diagnosis was correct in only 10 of 62 cases. From the foregoing it is apparent that recognition of an APSD is difficult.” The clinical features of the anomaly (see Table II) do not allow certain separation from: (1) patent ductus arteriosus, (2) ruptured aneurysm of a sinus of Valsalva into a right heart chamber, (3) ventricular septal defect with either pulmonary hypertension or aortic insufficiency, (4) pulmonary hypertension with pulmonic insufficiency, (5) rheumatic heart disease with aortic stenosis and insufficiency, or (6) a truncus arteriosus.4~5~11*12~16~17 Most of these lesions may give rise to pulmonary overcirculation, and each may cause a systolic and/or diastolic murmur along the left sternal border. A late onset of the heart murmur and symptoms would point to a ruptured aneurysm of a sinus of Valsalva. A major increase in right ventricular oxygen saturation
during
cardiac
catheterization
would
focus attention upon a ventricular septal defect. one should note, however, that a left-to-right shunt at the level of the pulmonary artery may cause an increase in right ventricular oxygen saturation if there is insufficiency of the pulmonic valve.5 To add further difficulty, the oxy-
538
Parker,
Burford,
Carlsson,
and Buchner
gen step up due to a high ventricular
septal
defect may first be detected in the main pulmonary artery. Passage of the catheter into the left ventricle and aorta, or right ventricular angiography, should afford a diagnosis in a case of ventricular septal defect with pulmonary hypertension or in a caseof truncus arteriosus. The major diagnostic difficulty is between APSD and PDA.3,11.13,15-18Both lesions give rise to a left-to-right shunt at the level of the pulmonary artery and ma) be identical in manifestati0ns.j Certain suggestive clinical differences have been noted, however. These are listed in Table III. Although none of the tabulated features allows a clear separation between the two lesions, the presence of any atvpical features in a suspected PDA necessitates further diagnostic evaluation.4 Catheterization of the right side of the heart may provide useful data of several kinds.? As previously noted, location of the increase in oxygen provides an important diagnostic aid. In addition, the pulmonary arterial pressures and an estimation of the magnitude of shunt flow are valuable in evaluating operability.lg Positive diagnostic information may be forthcoming from catheterization of the right side of the heart if the catheter passes through the defect. In patent ductus arteriosus the catheter enters the descending aorta and passes downward, whereas, if an APSD is present, the catheter enters the ascending aorta and moves cephalad into the aortic arch or carotid se1s.1,4.5r11,2n,21 Fluoroscopy in the
Fig. eter
4. A, Lateral view is placed in the
main pulmonary
of the aortogram. ascending aorta
The (Ao).
cathThe
artery (PA) and right pulmonary
artery (RPA) fill from the ascending aorta above the aortic valves. B, Anteroposterior of the aortogram. Note the marked filling pulmonary artery main (PA) and right (RPA)
the aorta (Ao) through the aortic valves. The of the right pulmonary
just view
of the from
a large defect just above arrows artery.
delineate
the margins
veslateral
position will reveal the catheter to be anterior in APSD and posterior in PD.%’ Catheterization of the defect and analysis of the location of the catheter in the aorta was the method by which the correct diagnosis was reached in 8 of the 10 diagnosed casesreviewed by Skall-Jensen.7 In the case described herein the catheter did not enter the defect. The correct tliagnosis was first suspected as a result of the unusually anterior and right-sided location of the dilution effect during angiography of the right side of the heart. This hitherto unmentioned sign is not diagnostic, but was suggestive enough to warrant retrograde aortography. Retrograde aortography
1x1s proved
to be a valuable
tcch-
Diagnosis
Table II. Clinical features of APSD in approximate decreasing order of freqUenCy2,4,5,7~9~12-15
symptoms
Signs I
Increased pulmonic second sound Wide pulse pressure
Dyspnea on exertion Fatigue Recurrent tions
respiratory
infec-
Physical underdevelopment Syncope
Systolicmurmuralong left sternal border
Diphasic systolic and diastolic murmur Continuous murmur Cyanosis Clubbing Diastolic
murmur
of
pulmonic insufficiency alone Apical diastolic flow murmur Diastolic gallop rhythm
Precordial bulge Right heart failure No murmur
nique for defining lesions of the thoracic aorta.22 Surprisingly, despite the fact that most authors agree that aortography is the method of choice in establishing the presence of an APSD, there are only a few reports of the diagnosis being substantiated in this rnanner.5,7,10,23-25 As demonstrated in this report (Fig. 4), this technique affords an excellent demonstration of the anatomy of the defect. Braunwald and Corne11z3 have recently described a dilution method for separating a defect of the aortic root from a patent ductus by injecting Kr85 at several levels in the aorta and sampling in the brachial artery. This method involves catheterization of the ascending aorta. We believe that the injection of contrast into the ascending aorta provides a more certain method of establishing the diagnosis, and it certainly exhibits anatomic details not accessible to any other technique. In any instance of suspected but atypical patent ductus or suspected APSD in which catheterization of the right side of the heart fails to prove the diagnosis, retrograde aortography should be performed.7,12*14p26 The age of our patient warrants brief comment. Survival until the age of 36,
of aorticopulmonary
septal defect
539
as in our case, is distinctly unusual. SkallJensen’ found no patients over the age of 30 years. Dadds,g however, in surveying the earlier literature concerning this disease, noted survival of 2 patients td ages 37 and 48.g Neufeld and associates5 in their review encountered 7 patients who survived beyond the age of 26. None of these patients was treated surgically, and confirmation of the diagnosis was obtained at necropsy in each instance. Most authorities now agree that APSD should be approached surgically, using the cardiopulmonary bypass.2z5 Early attacks without such support resulted in a high surgical mortality (about 50 per cent).l,2,4~5~8~1g~25 Unless the lesion can be demonstrated by aortography to be unusually high, small and ductlike, allowing ligation, an excellent approach is through the aorta or pulmonary artery, with direct suture closure of the defect. One of the presently unsolved problems in the selection of patients for cardiac surgery is the paucity of precise information in regard to the natural history and rate of progression of certain of the congenital heart lesions. In our case there was
Table I II. Observations suggestive of the presence of an APSD when a PDA is the presumptive diagnosis I. A continuous, machinery like murmur heard lower and more to the midline than usual for a
PDA3 2. A continuous or double murmur which appears to be more superficial than the murmur of a patent ductus9J6 3. A systolic murmur only located along the upper left sternal border, associated with pulmonary overcirculation6~7~9J3 murmur along the upper or mid left 4. A sytolic sternal border, followed by a separate noncontinuous early diastolic murmur’J3 5. Unusually severe clinical features for patent ductus7,L7 A. Dyspnea at rest or with very little effortI B. Aneurysmal dilatation of the pulmonary artery2 C. Greater cardiac enlargement than usual9 6 Small aortic knob4J 7 . Location of the dilution effect to the right and anterior to the usual site of emptying of a ductus, on angiocardiography performed with the tip of the catheter in the right ventricle or main pulmonary artery
540
Parker, Burford, Carlsson, and Buchner
no increase in the pulmonary arterial pressure nor change in the magnitude of the shunt over a period of 7 years. The selection of patients for operation when the pulmonary arterial pressure is at systemic levels warrants brief discussion. We have adopted the view, well expressed by DuShane and Kirklin,lg that operation should be performed even in the presence of severe pulmonary hypertension if there is a continuing, appreciable left-to-right shunt, as evidenced by an oxygen jump in the pulmonary artery, by left ventricular enlargement on the electrocardiogram, by overcirculation of the lung fields on the chest roentgenogram, and by an overactive heart with a loud murmur. If pulmonary blood flow is reduced by closing the defect, then pulmonary resistance, pressure, and eventually perhaps even the pulmonary vascular changes themselves may be reduced. On the other hand, predominant right-to-left shunting, as evidenced by cyanosis at rest, predominant right ventricular enlargement, and absence of an oxygen increase in the pulmonary artery, contraindicates operation. Closure of the defect in this situation increases pulmonary blood flow without reducing resistance and leads to greater degrees of pulmonary hypertension and right heart failure. The presence of a continuing large left-to-right shunt in our patient indicated that there was a reasonable chance that an operation would be successful, despite the pulmonary hypertension at systemic levels. To date (24 months after operation) the results have been gratifying. Summary
(1) A case is reported of successful repair of an aorticopulmonary septal defect despite pressures at a systemic level in the pulmonary artery. (2) The correct diagnosis was first suggested by the location of the dilution effect in the pulmonary artery on angiography, and was confirmed by retrograde aortography. (3) The clinical and catheterization features which are useful in the recognition of aorticopulmonary septal defects have been reviewed. REFERENCES 1. Fletcher, G., DuShane, J. W., Kirklin, and Wood, E. H.: Aortic-pulmonary defect: Report of a case with surgical
J. W., septal division,
2.
3.
4.
5.
6.
Proc. Staff Meet. Mayo Clin. 29:285, 19.54. Cooley, D. A., McNamara, D. G., and Latson, J. R.: Aorticopulmonary septal defect: diagnosis and surgical treatment, Surgery 42:101, 1957. Baronofsky, I. D., Gordon, A. J., Grishman, A., Steinfeld, L., and Kreel, I.: Aorticopulmonary septal defect. Diagnosis and report of case successfully treated, Am. J. Cardiol. 5:273, 1960. Somerville, J.: Aortopulmonary septal defect. Five cases treated bv oDeration. Guv’s HOSD. Rep. 108:177, 1959. - ’ . A Neufeld, H. C., Lester, R. G., Adams, I’., Jr., Anderson, R. C., Lillehei, C. W., and Edwards, J. E.: Aorticopulmonary septal defect, Am. J. Cardiol. 9:12, 1962. Potter, E. L.: Pathology of the fetus and the newborn, Chicago, 1952, Year Book Publishers, 11X.
7. Skall-Jensen, J.: Congenital aorticopulmonary fistula. A review of the literature and report of 2 cases, Acta med. scandinav. 160:221, 1958. 8. Gross, R. E.: Surgical closure of an aortic septal defect, Circulation 5:858, 1952. 9. Dadds, J. H., and Hoyle, C.: Congenital aortic septal defect, Brit. Heart J. 11:390, 1949. 10. Spencer, H., and Dworken, H. J.: Congenital aortic septal defect with communication between aorta and pulmonary artery, Circulation 2:880, 19.50. 11. D’Heer, H. ,4. H. and van Nieuwenhuizen, C. L. C.: Diagnosis of congenital aortic septal defects. Description of two cases and special emphasis on a new method which allows an accurate diagnosis by means of cardiac catheterization, Circulation 13:.58, 1956. 12. Sprengel, R. A., and Brown, A. F.: Aortic septum defect, AM. HEART J. 48:796, 1954. 13. Gibson, S., Potts, W. J., and Langewisch, W. H.: Aortic-pulmonary communication due to localized congenital defect of the aortic septum, Pediatrics 6:357, 1950. 14. Downing, D. F.: Congenital aortic septal defect, AM. HEART J. 40:285, 1950. 1.5. Adams, F. H., Diehl, A., Jorgens, J., and Veasy, L. G.: Right heart catheterization in patent ductus arteriosus and aortic pulmonary septal defect, J. Pediat. 40:49, 1952. 16. King, F. H., Gordon, A., Brahms, S., Lasser, R., and Borun, R.: Aortic septal defect simulating patent ductus arteriosus, J. Mt. Sinai Hosp. 17:310, 1951. 17. Keith, J. D., Rowe, R. D., and Vlad, I’.: Heart disease in infancy and childhood, New York, 19.58, The Macmillan Company, p. 528. 18. Nuboer, J. F.: Sur le traitement du defaut de septum du tronc arteriel, Poumon Coeur 12:121, 1956. 19. DuShane, J. W. and Kirklin, J. W.: Selection for surgery of patients with ventricular septal defect and pulmonary hypertension, Circulation 21:13, 1960. 20. Downing, D. F., Bailey, C. P., Maniglia, Ii. and Goldberg, H.: Defect of the aortic septum, AM. HEART J. 45:305, 19.53. 21. Shumway, N. E., and Lewis, F. J.: The closure
Diagnosis
22.
23.
of experimental aortic septal defects under direct vision and hypothermia, Surgery 39:604, 1956. Jonsson, G., Broden, B., and Karnell, J.: Thoracic aortography, Acta radiol. Suppl. 89, 1951. Braunwald, E., and Cornell, W. P.: A simplified technic for the detection of patent ductus arteriosus and of other left to right shunts originating from the aorta, Circulation 23:279, 1961.
24.
25.
26.
of aorticopulmonary
septal; defect
541
Gasul, B. M., Fell, E. H., and Casas, R.: The diagnosis of aortic septal defect by retrograde aortography. Report of a case, Circulation 4:251, 1951. Scott, H. W., Jr., and Sabiston, D. C., Jr.: Surgical treatment for congenital aorticopulmonary fistula, experimental and clinical aspects, J. Thoracic Surg. 25:26, 1953. Abrams, H. L., editor: Angiography, Boston, 1961, Little, Brown &Company.