Atresia of the Aortic Valve with Ventricular Septal Defect

Atresia of the Aortic Valve with Ventricular Septal Defect· A Clinicopathologic Study of Four Newborns LoweU W. Perry, M.D.; Lewis P. Scott, III, M.D.; Stephen R. Shapiro, M~D.; Roma S. Chandra, M.D.; and William C. Roberts, M.D., F.C.C.P.

Atresia of tile aortic valve occurs in the foRowing two types: (1) in type 1, the left ventricle is minute, the mitral valve is atrede (type lA) or hypoplastic (type 18), and the ventrlc.... septum is intact; and (2) in type 2, the left ventricle is well-developed, the mitral valve is either atretic (type 2A) or DOrmai (type 28), and one or more defects are present Ia the ventricular septum. ID this report, cUDleal and morphologic observations are described in four patients with the type 2 variety. Useful clues to the diagnosis of type 2 Include transmission of a precordial murmur to the bKk, near normal left ventricular forces on the

electrocardiogram in the presence of rigbt ventricular bypertrophy (detectable only by incre.-ed R/ S ratio In lead V 1), and absence of right atrI8I enlargement. Unless the mitral valve also Is atretic, significant shunting at the atrI8I level is usuaDy absent. Angiographic studies can provide the definite diagnosis by demonstrating a left ventricle, a lack of continuity between the left ventrlde and aorta, and a bypoplastic ascending aorta whicb is 80ed via the ductus arteriosus. Recognition of the type 2 variety is important because of the possibility of surgical treatment.

Atresia of the aortic valve, the congenital cardiac malformation with the worst prognosis, usually is associated with a rudimentary left ventricle and a hypoplastic or atretic mitral valve. 1 Among 73 patients with atresia of the aortic valve who were studied by us, 69 (95 percent) had a rudimentary left ventricle, an atretic (type lA) or a hypoplastic (type IB) mitral valve, and an intact ventricular septum; the other four patients (5 percent) had a developed left ventricle, either an atretic (type 2A) or a normal (type 2B) mitral valve, and one or more ventricular septal defects (Fig 1).1 To our knowledge, only nine patients with atresia of the aortic valve with ventricular septal defect have been reported previously.2-9 This report describes hemodynamic, angiographic and morphologic observations in four additional patients with atresia of the aortic valve with ventricular septal defect.

15. Two were girls, and two were boys. Two were white, and two were black. Both girls were small for their gestational ages, and both boys were born at term. One girl was one of twins, and one girl had the trisomy 18 syndrome. All four patients had tachypnea, tachycardia, cyanosis, palpable right ventricles, atrial gallop rhythms, grade 2-3/6 ejection-type precordial systolic murmurs which transmitted to the back, diminished to absent peripheral pulses, and enlarged livers. One had pulmonary rales. On chest x-ray films the cardiac size was normal to slightly enlarged; all four patients had pulmonary congestion, and one had mesocardia. On electrocardiograms, all four patients had right axis deviation with QRS axes between 120 0 and 210 0 • Three patients had normal and one had markedly diminished left ventricular forces. The amplitude of the R wave in lead VI was normal, varying between 10 and 12 mv in all; the amplitude of the R wave in lead V6 was normal (5 to 7 mv) in two patients and diminished (0.5 mv) in one. The amplitude of the S wave was normal both in lead VI (0 to 2 mv) and in lead V o (5 to 17 mv). A qR pattern was not present in lead VI in any patient. Right ventricular hypertrophy could be diagnosed only by an increase in the R/ S ratio in lead VI. Hemo"dynamic data from three patients are summa$ed in Table 1. All three patients had low systemic venous and systemic arterial oxygen satura-

PATIENTS STUDIED

All four patients died of congestive cardiac failure; three died by the third day, and one died at day o From

the Division of Pediatric Cardiology, Deparbnent of Child Health and Development and Depamnent of Pathology, Children's Hospital National Medical Center, and the Department of Pediatrics and Pathology, George Washington University School of Medicine, Washington, DC; and the Pathology Branch, the National Heart, Lung and Blood Institute, National Institutes of Health, Bethes~, Md. Manuscript received April 11; revision accepted May 10. Reprint reque8ts: Dr. Robem, Chief, Pathology Branch, National Heart, Lung & Blood Institute, Bethesda 20014

CHEST, 72: 6, DECEMBER, 1977

ATRESIA OF THE AORTIC VALVE 757

Table i-Hemody_mic·D.t. from Three C.- ol.4trea. 01 .4ortie Yallle IfIitla Yenlrieular Septal De/eet Data Oxygen saturations, percent Superior vena cava Right atrium Right ventricle Pulmonary artery Left atrium Aorta Pressures, mm Hg Right atrium a wave v wave Mean Right ventricle Pulmonary artery Left atrium a wave v wave Mean Left ventricle Aorta

Case 2

Case 3

Case 4

48 52 77

57 61

46

64 67 77 77 96 82

88

95 73

5 2 3

75/?J)

75/25

23 23 15 SO/?J) 4O/?J)

59

22

12 11

56/?J)

58/?J)

50/42

12 8 6 90/5 90/50 10 14 9 95/10

55/40

tions. Two had elevated ventricular end-diastolic pressures. All had systolic pressure gradients between left and right ventricles. The ductus arteriosus was restrictive in each. The foramen ovale was traversed in two patients, and both had mean pressure differences between the atria. One patient had a significant increase in oxygen saturation at the atrial level, but the left atrium could not be entered. The other two had no significant stepup in oxygen saturation at the atrial level. In none was a shunt demonstrated by cineangiographic studies at the atrial level. On cineangiographic studies (Fig 2), the pulmonary trunk was the only vessel visualized arising from the heart, and this vessel supplied the descending and transverse aorta. Left ventricular angiographic studies in all three patients disclosed a smooth-walled chamber with a functioning mitral valve. "Massive" ventricular left-to-right shunting was present The left ventricular chamber appeared small relative to the right ventricle in patient 3 and

FIGURE 1. Classification of atresia of aortic valve. LA, left atrium, LV, left ventricle; MV, mitral valve; RA, right atrium; and'RV, right ventricle (From Roberts et all).

758 PERRY ET AL

CHEST, 72: 6, DECEMBER, 1977

FIGURE 2. Frames of cineangiograms in patient 3 (a, b, and c) and in patient 4 (d). Patient 3 had associated dextroversion. a, Contrast material has been injected into left ventricle (LV), and large ventricular septal defect is immediately visualized. In b and c, right ventricle (RV) and pulmonary trunk (PT) are seen, but ascending aorta is never visualized. d, Left ventricular angiogram, showing well-developed left ventricle with rapid filling of pulmonary trunk and no filling of ascending aorta. LA, Left atrium; and RPA, right pulmonary artery.

was normal in the other two patients. In the two patients with large left ventricles, the ascending aorta was not visualized clearly. In the single patient with a relatively small left ventricle, the small ascending aorta was clearly visualized on angiographic studies. The aortic valve was not demonstrated in any patient. At necropsy, each patient had an atretic aortic valve and a hypoplastic ascending aorta. In one patient the mitral valve was atretic (Fig 3), and in the other three patients the mitral valve was normally developed (Fig 4). Each of the four patients had developed left ventricles, in three to normal size and in one to about half of normal size. In all four patients, from one to three defects were present in the ventricular septa. The only entrance into and exit from the left ventricle in the patient with mitral atresia was the ventricular septal defect. All four patients had considerably dilated right ventricles and major pulmonary arteries. The aorta in each

CHEST, 72: 6, DECEMBER, 1977

communicated with the pulmonary artery via a patent ductus arteriosus. DISCUSSION

Atresia of the aortic valve is part of the clinical "hypoplastic left heart" complex,lo which accounts for about 3 percent of cardiac diseases in pediatric centers. H •I ! Recently, atresia of the aortic valve has been classified according to the size of the left ventricle and the presence of a ventricular septal defect. I In type 1, comprising 95 percent of the patients with atresia of the aortic valve, the left ventricle is minute, and the mitral valve is either atretic (type lA) or hypoplastic (type IB); in type 2, comprising 5 percent, the left ventricle is developed, one or more defects are present in the ventricular septum, and the mitral valve is either atretic ( type 2A) or well developed (type 2B ). Clinical recognition of the type 2 variety of atresia of the aortic valve is important because the presence of a normal-sized left ventricle and normal mitral

ATRESIA Of THE AORnC VALVE 759

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Mitral valve also is atretic. Right venbide is enormously dilated, and left venbicle is smaller than normal Three defects

are present in ventricular septum. RA, Right atrium; a, artery; PT, pulmonary trunlc; R, right; L, left; and BYC, superior vena cava.

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FIGURE 4. Drawing of heart pf patient 3. MitnlJ valve is normal; and left venbicular cavity, although much smaller than very dilated right ventricle (R vent), is nevertheless of normal or nearly nonnaI size. RA, Right atrium; PT, pulmonary trunlc; and L vent, left ventricle.

160 PERRY ET AL

detect

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CHEST, 72: 6, DECEMBER, 1977

valve allows the potential for surgical intervention. Patients with type 2 have some features which ~night distinguish them clinically from patients with the type 1 variety. Dyspnea, hyperpnea, cyanosis; "and diminished or absent peripheral pulses are present in both types; however, precordial murmurs are present in all patients with type 2,1-9 whereas such murmurs are present in only 40 percent of patients with type 1. 1•12 The murmur, which is ejection in type and loudest over the lower left sternal border, probably is related to How across the ventricular septal defect. All patients with type 2 have had systolic gradients between the cardiac ventricles and evidence of left-to-right sh~nt by angiographic studies, and none has had tricuspid regurgitation. The murmur in the back probably is related to How across the restrictive ductus arteriosus. The patient of Freedom and associates3 had no munnur in the back and did not have a restrictive ductus. Cardiac size by chest x-ray film generally is not as large in type 2 as in type 1; however, in both types the lungs are congested. 1-9 The ECG may be helpful in distinguishing type 1 from type 2. 1-9 Both types have dominant right ventricles. Type 1 is more likely to have pure right ventricular hypertrophy with absent or markedly diminished left ventricular forces in the precordial leads. 18 In type 2 the left ventricular forces in lead V6 are normal or increased, with normal mitral valves. A qR pattern occurs in the right chest leads in about 40 percent of patients with type 1, 1 but a qR pattern has not been reported in type 2. Right ventricular hypertrophy is present in 85 to 100 percent of patients with type 1 on the basis of the R/ S ratio in lead VI, a qR pattern in lead VI, or an R wave in lead VI that is greater than nonnal. In only one rePorted patient with type 28 has the R-wave voltage in lead VI been in excess 6f normal for the age. Right ventricular hypertrophy usually could be diagnosed only on the basis of an increased R/ S ratio in lead VI; the S wave was not exceptionally deep in lead V6. Right atrial enlargement is common in type 1, and left atrial enlargement is absent. No patient with type 2 had either right or left atrial enlargement. The QRS axis is similar in both types, generally lying between 90 0 and 210 0 • 12 Echocardiographic studies, although not performed in any of our patients with type 2, should be of value in differential diagnosis. 8 Type 2 should be suspected in the infant with clinical features of the hypoplastic left-heart syndrome, but without right atrial enlargement on the ECG, and with left ventricular forces in the low normal range, particularly if the echocardiogram reveals a nonnal-sized left ventricular cavity and a single outflow root. 3 CHEST, 72: 6, DECEMBER, 1977

At cardiac catheterization, only about half of the patients with type 2B have atrial left-to-right shunts, whereas one is always present in type 1 and in type 2A. An oxygen step-up occurs at the ventricular level in type 2B.3.4.7-9.14 The ascending aorta is difficult to visualize by angiographic studies in most patients. Because of a developed left ventricle, it is possible that patients with type 2, particularly those with type 2B, may be amenable to surgical palliation. Banding of the branches of the right and left main pulmonary arteries and injection of a formaldehyde solution (formalin) 15 into the ductus arteriosus might be the procedure of choice. REFERENCES

1 Roberts WC, Perry LW, Chandra RS, et al: Aortic valve atresia: A study of 73 necropsy patients. Am J Cardial 37:753-756, 1976 2 Pellegrino PA, Thiene G: Aortic valve atresia with· a normally developed left venmcle. Chest 69: 121-122, 1976 3 Freedom RM, Williams WG, Dische MR, et al: Anatomical variants in aortic atresia: Potential candidates for ventriculoaortic reconstruction. Br Heart J 38:821-826, 1976 4 Rosenquist GC, Taylor JFN, Stark J: Aortopulmonary fenestration and aortic atresia: Report of an infant with ventricular septal defect, persistent ductus arteriosus, and interrupted aortic arch. Br Heart J 36: 1146-1148, 1974 5 Watson DG, Rowe RD: Aortic valve atresia: Report of 43 cases. JAMA 179: 14:'18, 1962 6 Monie IW, dePape AD: Congenital aortic atresia: Report of one case with an analysis of 26 similar reported cases. Am Heart J 40:595-602, 1960 7 Miller G: Aortic atresia: Diagnostic cardiac catheterization in first week of life. Br Heart J 33:367-369, 1971 8 Moodie DS, Gallen WJ, Friedberg DZ: Congenital aortic atresia: Report of long survival and some speculation about surgical approaches. J Thorac Cardiovasc Surg 63: 726-731, 1972 9 Friedberg DZ, Gallen WJ, Oechler HW, et al: Ivemark syndrome with aortic atresia. Am J Dis Child 126: 106108, 1973 10 Lev M: Pathologic anatomy and interrelationships of hypoplasia of the aortic tract complexes. Lab Invest 1:6170, 1952 11 Perry LW, Scott LP, Shapiro SR, et a1: Documented heart disease at Children's Hospital National Medical Center, 1964-1974. Clin Pmc Child Hosp Nat Med Ctr 31:73-76, 1975 12 Keith, JD, Rowe RD, Vlad P: Heart Disease in Infancy and Childhood (2nd ed). New York, Macmillan Publishing Co, Inc, 1966, p 466 13 Nadas AS, MOOy MR: Preductal coarctation.. and hypoplastic left heart complexes with comments on premature closure of foramen ovale. In Cassels DE (ed): The Heart and Circulation in the Newborn and Infant. New York, Grune and Stratton, Inc., 1966, p 225 14 Krovetz LJ, Rowe RD, Scheibler GL: Hemodynamics of aortic valve atresia Circulation 42:953-959, 1970 15 Rudolph AM, Heymann MA, Fishman N, et al: Formalin infiltration of the ductus arteriosus: A method for palliation of infants, with selected congenital cardiac lesions. N Engl J Med 292:1263-1268, 1975

ATRESIA OF THE AORTIC VALVE 761