Aortic Valve Atresia with a Normally Developed Left Ventricle* Piero A. Pellegrino, M.D., and Gaetooo Thiene, M.D.
.Aortic valve atresia is usually IIIIIOC:iated with hYl")plasla of the left ventricle and mitral valve. We report a patient presenting aortic atresia with ventrkular septal defect and a norioaDy sized left ventricle. .1be elec:trocardi• IJ'8IIl showed left uis deviation· and left ventricular hypertrophy. 'l'he veotrk:ular septal defec:t probably favored a nomull ~wth of theJeft ventrkle, allowlna It to unload with systole.
aortic v~ve atresia Congenital developmental anomaly most
is usually part of a
frequently called "hypoplastic left-heart syndrome~"1 • 2 To our knowledge, all reported cases of aortic atresia were associated with hypoplasia of the ascending aorta, of the left ventricle, and of the mitral valve. 2• 8 We describe here a case of aortic atresia accompanied by a well-formed left atrium, mitral valve, and left ventricle. In the presence of classical aortic atresia, there is an intact ventricular septum and a competent mitral valve; this traps the left ventricle and characteristically it is hypoplastic. In contrast, in our case, aortic atresia was associated with a ventricular septal defect, which allowed the left ventricle to exercise its normal function of expelling blood and accounted · for the fact that the chamber was of normal size. CASE REPoRT
The patient was hom on Dec 20, 1973, after an uneventful full-term pregnancy to a para 1, gravida 1 mother who was 23 years old. Birth weight was 3,500 gm ( 7 lb, 11 oz). The •From the Departments of Pediatrics and Pathology, University of Padova, Padova, Italy.
RerJrint requuta: Dr. Pellesrlno, Clfnlca Pedlatrica Unloemto Padova, 35100 PadOoa, ltol.fl
Apgar score was 8 at one minute. Because of tachypnea, dyspnea, and cyanosis, the patient was transferred:to our unit at 30 hours of age. Physical e:mmination on admission revealed a well-nourished full-term newborn male infant with minimal cyanosis but marked respiratory distress. Heart rate was 168 beats per minute; respiratory rate was 80 per minute; and arterial pressure by the "flush" technique was 60 mm Hg and 55 mm Hg at the right wrist and ankle, respectively. Fine rales were ~ over both lungs. The liver was palpable about 5 em below the right costal margin. The femoral and brachial pulses were markedly decreased in volume. There was a qujet precordium; the first sound was normal, and the second sound at the base of the heart was loud and single. There was a moderately loud third sound at the apex with a gallop rhythm. A grade 3/6, harsh, long systolic murmur was best heard along the left sternal border. A chest x-ray film disclosed moderate cardiomegaly and increased pulmonary vascu1arity. An electrocardiogram (Fig 1 ) showed a probable junctional tachycardia at a rate of 120 to 130 per minute, a QRS axis of about -30•, dominant left venbicular electric forces, and marked ST-T wave changes. Despite intensive anticongestive treatment, the patient died of severe heart failure ten hours following admission. Pomnortem Emrnlno&n
The postmortem examination (Fig 2) showed that there was situs solitus of the atria and vi$cera, with d-loop and cardiac apex pointing tO the 1eft. Two superior venae cavae were present, the left one draining into the coronary sinus. A 6 X 4-mm atrial eeptal defect was situated at the level of the fossa ovalis. The right ventricle was slightly enlarged. A 5 X 7 -mm intracrimll venbicular septal defect was present. A very large pulmonary artery emerged anteriorly from the right venbicular cavity. The right and left pulmonary arteries arose normally from the pulmonary trunlt which was con'tinuOus with the descending aorta through a large patent ductus arteriosus; The pulmonary veins drained normally into a well-developed left atrium. The mitral valve was normal in size and shape. ·The left ventricle presented a normal architecture and was moderately enlarged. Its cavity ended blindly at the level of the aortic valve, and its only outlet was via the ventricular .septal defect.
.
VR
I
'I f
I •
FlGtmB 1. .Electrocardiogram showing probable junctional tachycardia at rate of 1.20 to 130 per minute, QRS axis of about -30•, dominant left ventricular electric forces, and marked ST-T wave changes.
CHEST, .69: 1, JANUARY, 1976
AORnC VALVE ATRESIA 121
DISCUSSION
Aortic atresia is the most severe form of the hypoplastic left heart syndrome. • Clinically, our case was very similar to most cases previously described. However, the patient's electrocardiographic pattern unexpectedly showed a left axis deviation and a left ventricular hypertrophy. This might have suggested a tricuspid atresia, even though clinical findings favored the diagnosis of a hypoplastic left heart syndrome. In retrospect, the prevalence of left ventricular electric forces suggested the presence of a functional left ventricle, which was subsequently confirmed by postmortem examination. Aortic atresia is usually included in the hypoplastic left heart syndrome, because all the cases thus far described have been associated with underdevelopment of all of the structures on the left side of the heart. The question then arises if this case should be considered a new entity or a variant of the hypoplastic left heart syndrome. The presence of this type of aortic atresia favors the existence of an anatomic spectrum of lesions including ( 1) an extreme form of aortic atresia with mitral atresia and severe hypoplasia of the left ventricle;6 (2) aortic atresia with a small mitral valve and less marked hypoplastic left ventricle, with or without ventricular septal defect;• and ( 3) aortic atresia with ventricular septal defect and normal left side of the heart. In this last situation the presence of a large ventricular septal defect, which decompresses the left ventricle, is most probably responsible for a normal development and function of the structures on the left side of the heart. Despite the anatomic variations, practically all of the cases reported present the same clinical picture and course. ACKNOWLEDGMENT: We are very much indebted to Dr. Jesse E. Edwards for his helpful suggestions in reviewing the manuscript.
FIGURE 2. Heart specimen. (a) Anterior view. A, Ascending aorta; AA, anomalous artery; IA, innominate artery; LCA, left carotid artery; LSA, left subclavian artery; PDA, patent ductus arteriosus; PT, pulmonary trunk; RCA, right carotid artery; and RSA, right subclavian artery. (b) Interior of left ventricle; its cavity and mitral valve are normal in shape and size, and ventricular septal defect ( VSD) is the only outlet. Arrow indicates blind outflow tract. A blind cul-de-sac representing the atretic aortic valve was situated at the base of a markedly hypoplastic ascending aorta, from which the right and left coronary arteries arose. The aortic arch was also hypoplastic, and the innominate artery and the left common carotid artery emerged from it. The left subclavian artery arose from the descending aorta just below the ductus arteriosus. In addition, there was an anomalous artery coming off the right pulmonary artery and coursing behind the ascending aorta to join the right subclavian artery ( probably a remnant of the sixth right aortic arch).
122 PELLEGRINO, THIEME
1 Lev M: Pathologic anatomy and interrelationship of hypoplasia of the aortic tract complexes. Lab Invest 1:61-70, 1952 2 Noonan JA, Nadas SA: The hypoplastic left heart syndrome. Pediatr Clin North Am 5:1029-1056, 1958 3 Elliot LD, Best EB, Schiebler GL: Aortic atresia: A case report and review. Am Heart J 62:821-829, 1961 4 Watson DC, Rowe RD: Aortic valve atresia: Report of 43 cases. JAMA 179:14-18, 1962 5 Luna RL, Santos GM, Sznejder MA: Aortic atresia. Br Heart J 25:405-411, 1963 6 Kanjuh VI, Elliot RS, Edwards JE: Coexistent mitral and aortic valvular atresia: A pathologic study of 14 cases. Am J Cardtol15:611-621, 1965 7 Van Praagh R, Bernhard WF, Rosenthal A, et al: Interrupted aortic arch: Surgical treatment. Am J Cardiol 27: 200-211, 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 63:726731, 1972
CHEST, 69: 1, JANUARY, 1976
.Aortic valve atresia is usually IIIIIOC:iated with hYl")plasla of the left ventricle and mitral valve. We report a patient presenting aortic atresia with ventrkular septal defect and a norioaDy sized left ventricle. .1be elec:trocardi• IJ'8IIl showed left uis deviation· and left ventricular hypertrophy. 'l'he veotrk:ular septal defec:t probably favored a nomull ~wth of theJeft ventrkle, allowlna It to unload with systole.
aortic v~ve atresia Congenital developmental anomaly most
is usually part of a
frequently called "hypoplastic left-heart syndrome~"1 • 2 To our knowledge, all reported cases of aortic atresia were associated with hypoplasia of the ascending aorta, of the left ventricle, and of the mitral valve. 2• 8 We describe here a case of aortic atresia accompanied by a well-formed left atrium, mitral valve, and left ventricle. In the presence of classical aortic atresia, there is an intact ventricular septum and a competent mitral valve; this traps the left ventricle and characteristically it is hypoplastic. In contrast, in our case, aortic atresia was associated with a ventricular septal defect, which allowed the left ventricle to exercise its normal function of expelling blood and accounted · for the fact that the chamber was of normal size. CASE REPoRT
The patient was hom on Dec 20, 1973, after an uneventful full-term pregnancy to a para 1, gravida 1 mother who was 23 years old. Birth weight was 3,500 gm ( 7 lb, 11 oz). The •From the Departments of Pediatrics and Pathology, University of Padova, Padova, Italy.
RerJrint requuta: Dr. Pellesrlno, Clfnlca Pedlatrica Unloemto Padova, 35100 PadOoa, ltol.fl
Apgar score was 8 at one minute. Because of tachypnea, dyspnea, and cyanosis, the patient was transferred:to our unit at 30 hours of age. Physical e:mmination on admission revealed a well-nourished full-term newborn male infant with minimal cyanosis but marked respiratory distress. Heart rate was 168 beats per minute; respiratory rate was 80 per minute; and arterial pressure by the "flush" technique was 60 mm Hg and 55 mm Hg at the right wrist and ankle, respectively. Fine rales were ~ over both lungs. The liver was palpable about 5 em below the right costal margin. The femoral and brachial pulses were markedly decreased in volume. There was a qujet precordium; the first sound was normal, and the second sound at the base of the heart was loud and single. There was a moderately loud third sound at the apex with a gallop rhythm. A grade 3/6, harsh, long systolic murmur was best heard along the left sternal border. A chest x-ray film disclosed moderate cardiomegaly and increased pulmonary vascu1arity. An electrocardiogram (Fig 1 ) showed a probable junctional tachycardia at a rate of 120 to 130 per minute, a QRS axis of about -30•, dominant left venbicular electric forces, and marked ST-T wave changes. Despite intensive anticongestive treatment, the patient died of severe heart failure ten hours following admission. Pomnortem Emrnlno&n
The postmortem examination (Fig 2) showed that there was situs solitus of the atria and vi$cera, with d-loop and cardiac apex pointing tO the 1eft. Two superior venae cavae were present, the left one draining into the coronary sinus. A 6 X 4-mm atrial eeptal defect was situated at the level of the fossa ovalis. The right ventricle was slightly enlarged. A 5 X 7 -mm intracrimll venbicular septal defect was present. A very large pulmonary artery emerged anteriorly from the right venbicular cavity. The right and left pulmonary arteries arose normally from the pulmonary trunlt which was con'tinuOus with the descending aorta through a large patent ductus arteriosus; The pulmonary veins drained normally into a well-developed left atrium. The mitral valve was normal in size and shape. ·The left ventricle presented a normal architecture and was moderately enlarged. Its cavity ended blindly at the level of the aortic valve, and its only outlet was via the ventricular .septal defect.
.
VR
I
'I f
I •
FlGtmB 1. .Electrocardiogram showing probable junctional tachycardia at rate of 1.20 to 130 per minute, QRS axis of about -30•, dominant left ventricular electric forces, and marked ST-T wave changes.
CHEST, .69: 1, JANUARY, 1976
AORnC VALVE ATRESIA 121
DISCUSSION
Aortic atresia is the most severe form of the hypoplastic left heart syndrome. • Clinically, our case was very similar to most cases previously described. However, the patient's electrocardiographic pattern unexpectedly showed a left axis deviation and a left ventricular hypertrophy. This might have suggested a tricuspid atresia, even though clinical findings favored the diagnosis of a hypoplastic left heart syndrome. In retrospect, the prevalence of left ventricular electric forces suggested the presence of a functional left ventricle, which was subsequently confirmed by postmortem examination. Aortic atresia is usually included in the hypoplastic left heart syndrome, because all the cases thus far described have been associated with underdevelopment of all of the structures on the left side of the heart. The question then arises if this case should be considered a new entity or a variant of the hypoplastic left heart syndrome. The presence of this type of aortic atresia favors the existence of an anatomic spectrum of lesions including ( 1) an extreme form of aortic atresia with mitral atresia and severe hypoplasia of the left ventricle;6 (2) aortic atresia with a small mitral valve and less marked hypoplastic left ventricle, with or without ventricular septal defect;• and ( 3) aortic atresia with ventricular septal defect and normal left side of the heart. In this last situation the presence of a large ventricular septal defect, which decompresses the left ventricle, is most probably responsible for a normal development and function of the structures on the left side of the heart. Despite the anatomic variations, practically all of the cases reported present the same clinical picture and course. ACKNOWLEDGMENT: We are very much indebted to Dr. Jesse E. Edwards for his helpful suggestions in reviewing the manuscript.
FIGURE 2. Heart specimen. (a) Anterior view. A, Ascending aorta; AA, anomalous artery; IA, innominate artery; LCA, left carotid artery; LSA, left subclavian artery; PDA, patent ductus arteriosus; PT, pulmonary trunk; RCA, right carotid artery; and RSA, right subclavian artery. (b) Interior of left ventricle; its cavity and mitral valve are normal in shape and size, and ventricular septal defect ( VSD) is the only outlet. Arrow indicates blind outflow tract. A blind cul-de-sac representing the atretic aortic valve was situated at the base of a markedly hypoplastic ascending aorta, from which the right and left coronary arteries arose. The aortic arch was also hypoplastic, and the innominate artery and the left common carotid artery emerged from it. The left subclavian artery arose from the descending aorta just below the ductus arteriosus. In addition, there was an anomalous artery coming off the right pulmonary artery and coursing behind the ascending aorta to join the right subclavian artery ( probably a remnant of the sixth right aortic arch).
122 PELLEGRINO, THIEME
1 Lev M: Pathologic anatomy and interrelationship of hypoplasia of the aortic tract complexes. Lab Invest 1:61-70, 1952 2 Noonan JA, Nadas SA: The hypoplastic left heart syndrome. Pediatr Clin North Am 5:1029-1056, 1958 3 Elliot LD, Best EB, Schiebler GL: Aortic atresia: A case report and review. Am Heart J 62:821-829, 1961 4 Watson DC, Rowe RD: Aortic valve atresia: Report of 43 cases. JAMA 179:14-18, 1962 5 Luna RL, Santos GM, Sznejder MA: Aortic atresia. Br Heart J 25:405-411, 1963 6 Kanjuh VI, Elliot RS, Edwards JE: Coexistent mitral and aortic valvular atresia: A pathologic study of 14 cases. Am J Cardtol15:611-621, 1965 7 Van Praagh R, Bernhard WF, Rosenthal A, et al: Interrupted aortic arch: Surgical treatment. Am J Cardiol 27: 200-211, 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 63:726731, 1972
CHEST, 69: 1, JANUARY, 1976
