Absence of the aortic valve cusps with mitral atresia, normal left ventricle, and intact ventricular septum

A case of a previously unreported anomaly is presented in which absence of the aortic valve cusps, mitral atresia, a normal left ventricle, and an intact ventricular septum were diagnosed by cross sectional echocardiography. The development of a normal left ventricle, rather than the hypoplastic ventricle usually associated with mitral atresia, is explained by filling of the ventricular cavity via the regurgitant aortic valve.     

Absence of the aortic valve cusps with mitral atresia, normal left ventricle, and intact ventricular septum.

A case of a previously unreported anomaly is presented in which absence of the aortic valve cusps, mitral atresia, a normal left ventricle, and an intact ventricular septum were diagnosed by cross sectional echocardiography. The development of a normal left ventricle, rather than the hypoplastic ventricle usually associated with mitral atresia, is explained by filling of the ventricular cavity via the regurgitant aortic valve.     

Aortic valve atresia: a new classification based on necropsy study of 73 cases.

Certain clinical and morphologic observations are described in 73 necropsy patients with aortic valve atresia. The mean age at death was 5 days; 80 percent died during the first week of life, and 70 percent were boys. Of the 73 patients, 69 (95 percent) had a hypoplastic left ventricle with intact ventricular septum and either an atretic (25 patients) or hypoplastic (44 patients) mitral valve. The other four patients had a well developed left ventricle with one or more defects in the ventricular septum and either an atretic (one patient) or well developed (three patients) mitral valve. Review of previous reports on aortic valve atresia disclosed that a well developed left ventricle or ventricular septal defect in association with absence of the aortic valve was extremely rare. A new classification for aortic valve atresia is presented based on the status of the ventricular septum, which in turn appears to determine the size of the left ventricular cavity. The predilection for male subjects for all types of aortic valve disease, including atresia, is emphasized.     

Aortic atresia with normal left ventricle distinctive angiocardiographic findings

The distinctive angiocardiographic findings in a patient with aortic atresia and normal left ventricle are presented. This diagnosis was initially made at 6 days of age. Because the infant was felt to be a potential candidate for ventriculo-aortic reconstitution, she underwent construction of a pulmonary artery—descending thoracic aorta anastomosis and bilateral pulmonary artery banding to prevent intractable congestive heart failure and pulmonary vascular obstructive disease. Her second hospital admission at 16 months of age was necessitated because of increasing cyanosis despite excellent growth and development. Repeat hemodynamic and angiocardiographic investigations were performed; these and pertinent pathologic observations are the subject of this report. Aortic atresia, ventricular septal defect, and a normally developed left ventricle is uncommon, occurring in only 7 of 148 patients with aortic atresia in the Cardiovascular Registry of the Hospital for Sick Children. Selective aortography will demonstrate a hypoplastic ascending aorta in all cases of aortic atresia. However, the epicardial distribution of the left coronary artery system will differ, depending on the size of the left ventricular cavity. Selective left ventricular cineangiocardiography will reveal the size of the left ventricle in the patient with aortic atresia, ventricular septal defect, and normal left ventricle. The muscular subaortic atresia caan be profiled in the lateral or left anterior oblique angiocardiograms in these patients. Finally, possible methods of ?physiological”? repair of this defect are discussed.     

Coronary artery abnormalities and right ventricular histology in hypoplastic left heart syndrome.

OBJECTIVES. To determine whether right ventricular preservation is compromised in any anatomic subgroup of hypoplastic left heart syndrome, we assessed the coronary artery anatomy and myocardial histologic features of 151 postmortem specimens with hypoplastic left heart syndrome. BACKGROUND. Although previous studies have shown that coronary artery abnormalities are more prominent in the subgroup of patients who have a patent mitral valve and obstructed aortic valve, it has not been established that these abnormalities compromise right ventricular perfusion. METHODS. Eighty-nine specimens with a patent mitral valve and aortic atresia, 52 with mitral and aortic atresia and 10 with patent mitral and aortic valves were examined. Histologic sections of the right ventricle, left ventricle and coronary arteries were obtained from 64 study hearts and 5 control hearts. RESULTS. Gross coronary anomalies included coronary-cameral communications (n = 29), single left coronary artery (n = 2), single right coronary artery (n = 1) and tortuosity (n = 19). Coronary-cameral communications and tortuosity were significantly associated with the subgroup that had mitral hypoplasia and aortic atresia. Coronary artery wall thickness relative to lumen diameter was not different among the subgroups. No areas of coronary artery stenosis or interruption were discovered. Although endocardial fibroelastosis of the left ventricle was strongly associated with the mitral hypoplasia and aortic atresia group, the right ventricular histologic findings were similar in all subgroups and were not differentially affected by older age. CONCLUSIONS. Although the incidence of coronary abnormalities is greater in patients with mitral hypoplasia and aortic atresia, in this study there was no apparent difference in perfusion of the right ventricle among the anatomic subgroups of hearts with hypoplastic left heart syndrome.     

Aortic valve atresia with a normally developed left ventricle.

Aortic valve atresia is usually associated with hypoplasia of the left ventricle and mitral valve. We report a patient presenting aortic atresia with ventricular septal defect and a normally sized left ventricle. The electrocardiogram showed left axis deviation and left ventricular hypertrophy. The ventricular septal defect probably favored a normal growth of the left ventricle, allowing it to unload with systole.     

Aortic atresia with normal left ventricle and intact ventricular septum.

We report a case of aortic atresia with biventricular hypertrophy and death due to cardiac insufficiency (at 5 1/2 days of age). In the necropsy a normally sized left ventricle was observed, with endocardiac fibroelastosis, anomalous mitral arcade, intact interventricular septum and atresia of the aortic valve. The ascending aorta was moderately hypoplasic; there was a foramen ovale and persistent ductus arteriosus. We believe that this is the first case that has been reported of this anomaly occurring with a normal left ventricle and intact ventricular septum.     

Functional aortic valve atresia in transposition of the great arteries

The criterion for the diagnosis of functional atresia of a patient semilunar valve is met when the pressure in a ventricle remains lower than that in the related great artery throughout systole so that no forward flow can occur. Functional pulmonary valve atresia has been well recognized in infants with normally related great arteries and massive tricuspid valve incompetence. The cardiac physiology and anatomy of an infant with transposed great arteries and functional aortic valve atresia is reported for the first time. The peak systolic pressure in the right ventricle was 30 mm Hg and in the aorta 64 mm Hg. The causes for right ventricular incompetence were abnormalities of the tricuspid valve and hypoplasia of the ventricular free wall. Three other cases with similar ventricular anatomy and physiology but with anatomic atresia of the aortic valve are reviewed. The possibility that under these physiologic circumstances during fetal life functional atresia develops first, and that anatomic fusion of idle semilunar cusps develops as a secondary phenomenon, is discussed.     

Absent aortic valve with normally related great arteries

Summary A neonate with absent aortic valve associated with membranous mitral atresia and normally related great arteries is reported. The patient was a 3360-g boy and was transferred to our hospital 4 h after birth because of severe cyanosis and respiratory distress. Absent aortic valve associated with mitral atresia was diagnosed on echocardiography. The patient died 4 days later with congestive heart failure. Postmortem examination revealed the aortic valve and sinus of Valsalva to be totally absent. The mitral valve showed membranous atresia. Severe endocardial fibroelastosis of the left ventricle, which was mildly dilated, and bizarre trabeculation were seen. This is the first case report of an absent aortic valve with normally related great arteries.     

Congenital aortic atresia; report of the first case with left axis deviation of the electrocardiogram

A case of congenital aortic atresia with hypoplasia of the left ventricle and huge enlargement of the right ventricle with left axis deviation of the electrocardiogram, is described.     

Identification and analysis of left atrial isomerism

The veno-atrial connections, atrial morphology, atrioventricular (AV) junction, ventricular mass, ventriculoarterial (VA) connection and great arteries in 22 autopsied hearts, diagnosed as having bilateral left-sidedness because of the morphology of the atrial appendages, were studied. The findings were correlated with the arrangement of the thoracic-abdominal organs. A solitary spleen was found in 3 and double spleens in 2 hearts (the remaining 17 hearts had multiple spleens) but left bronchial isomerism existed in all hearts in which bronchial arrangement could be determined. The heart was in the left chest in 14 cases, in the right chest in 5 and midline in 3. The apex pointed to the left in 18 hearts while in 4 hearts it pointed to the right. Fifteen hearts had a biventricular and ambiguous AV connection, 3 hearts had an absent left AV connection and 4 had double-inlet connection via a common valve (to the left ventricle in 3 and the right ventricle in 1). The VA connection was concordant in 14 hearts, discordant in 1, double outlet from the right ventricle in 4, double outlet from a solitary indeterminate ventricle in 1 and single outlet from the right ventricle through a pulmonary trunk with aortic atresia in 2 hearts. Superior caval veins were present bilaterally in 13 hearts. There was interruption of the infrahepatic inferior caval vein with azygos or hemiazygos continuation in 19 hearts while in 3 hearts the inferior caval vein continued upwards to drain into the right-sided morphologically left atrium.(ABSTRACT TRUNCATED AT 250 WORDS)     

Endocardial fibroelastosis and hypoplasia of the left ventricle in neonates without significant aortic stenosis.

Endocardial fibroelastosis in neonates with hypoplasia of the left ventricle is usually associated with severe aortic stenosis or atresia. In this study three hearts were examined, in which severe hypoplasia of the left ventricular cavity with myocardial hypertrophy and endocardial fibroelastosis were associated with small but non-stenotic subaortic outflow tracts and aortic valves. These features were contrasted with those of neonatal left heart hypoplasia in aortic stenosis and atresia. The index cases were examples of the very rare contracted form of endocardial fibroelastosis.     

Endocardial fibroelastosis and hypoplasia of the left ventricle in neonates without significant aortic stenosis

Endocardial fibroelastosis in neonates with hypoplasia of the left ventricle is usually associated with severe aortic stenosis or atresia. In this study three hearts were examined, in which severe hypoplasia of the left ventricular cavity with myocardial hypertrophy and endocardial fibroelastosis were associated with small but non-stenotic subaortic outflow tracts and aortic valves. These features were contrasted with those of neonatal left heart hypoplasia in aortic stenosis and atresia. The index cases were examples of the very rare contracted form of endocardial fibroelastosis.     

Aortic atresia with Ebstein's and Uhl's anomaly in corrected transposition of the great arteries: clinicopathologic findings

The common form of aortic atresia is associated with atrioventricular and ventriculoarterial concordant connections, but it has been very rarely found in "discordant connection" in the literature. In a 6-day-old male infant, clinical and postmortem pathologic features of this rare lesion, associated with Ebstein's and Uhl's anomaly in "congenitally corrected transposition" in situs solitus, are described. A possible pathogenesis is suggested for the concomitant presence of aortic atresia and poor-functioning, morphologic right ventricle.     

Aortic atresia. Presentation of 7 cases

The clinical and anatomic findings of 7 patients with aortic atresia were studied. All cases had usual atrial arrangement, atrioventricular and ventriculoarterial concordance. All but one had an intact ventricular septum. All cases presented a hypoplastic left ventricle, and in one, a mitral atresia was found. The clinical diagnosis was made by means of cardiac catheterization and angiocardiography. The presence of a patent ductus arteriosus, the size of the atrial and ventricular septal defects, the diameter of the ascending aorta, pulmonary vascular resistances and right ventricular function are all factors that influence the survival in the patients with aortic atresia.     

Truncal or aortic valve stenosis in functionally single arterial trunk: A clinical,hemodynamic and pathologic study of six cases

Stenosis of the semilunar valve in the presence of a functionally single arterial trunk is uncommon. Three patients with truncus arteriosus, two with tetralogy of Fallot and pulmonary atresia and one with pulmonary atresia and intact septum were diagnosed as having stenosis of the truncal or aortic valve on the basis of clinical, echocardiographic, hemodynamic and angiocardiographic findings. Echocardiograms consistently showed multiple diastolic closure lines and abnormal semilunar valves in addition to the aortic override in five patients and hypoplastic right ventricle in the patient with pulmonary atresia and intact septum. Peak systolic gradients between the left ventricle and truncus (or aorta) at cardiac catheterization ranged from 20 to 47 mm Hg. Retrograde aortography confirmed a domed and stenotic semilunar valve. Cyanosis was progressive in the three patients with pulmonary atresia. Two patients had arterial anastomosis, and one had a right ventricle-pulmonary arterial graft in addition to aortic valvotomy. One of the three patients with truncus arteriosus underwent complete repair in addition to truncal valvotomy but he died in the postoperative period. The other two patients with truncus arteriosus died of intractable congestive cardiac failure before surgical intervention.It is suggested that the presence of semilunar valve stenosis in these patients adversely affects the prognosis. The myocardium is already jeopardized as a result of hypoxia in pulmonary atresia and left ventricular diastolic overload in patients with truncus arteriosus. The added burden of semilunar valve stenosis may further compromise the functional status of the myocardium.     

Extensive myocardial fiber disarray in aortic and pulmonary atresia. Relevance to hypertrophic cardiomyopathy

Myocardial fiber disarray is a distinctive histopathologic finding seen in asymmetric hypertrophic cardiomyopathy. We studied 14 hearts with aortic atresia and intact interventricular septum, six hearts with pulmonic atresia and intact interventricular septum, eight normal infant hearts matched for age of the study hearts, and one nonadult heart with hypertrophic cardiomyopathy and asymmetric hypertrophy and quantitatively analyzed tissue sections through both ventricles and the septum. Normal hearts had an average overall fiber disarray of 8.7% (range 3.8-17%) of the left ventricle including septum. Hearts with pulmonary atresia had an overall disarray of 70.4% (range 13-97%) of the entire right ventricle, and those with aortic atresia 62.1% (range 26-97%) of the left ventricle. The one infant heart with hypertrophic cardiomyopathy showed 15.5% disorder of the left ventricular free wall, 75% disorder of the septum and 47% overall myocardial fiber disarray. Thus, while quantitative criterion distinguished normal from abnormal hearts, they did not distinguish among the various pathologic states. Although extensive myocardial fiber disarray is not exclusive to, or pathognomonic of, hypertrophic cardiomyopathy, it is a useful finding taken in the context of the overall disease. The sensitivity and specificity of this isolated morphologic observation as an indication of hypertrophic cardiomyopathy may be misleading.     

Severe obstruction to systemic blood flow in congenitally corrected transposition (discordant atrioventricular and ventriculo-arterial connexions): an analysis of 14 patients

The more common associated cardiac anomalies in any cohort of patients with discordant atrioventricular and ventriculo-arterial connexions (congenitally corrected transposition) include ventricular septal defect, left ventricular (subpulmonary) outlet obstruction, and displacement and/or dysplasia of the morphologically tricuspid valve. There is scant mention in the literature of severe obstruction to systemic blood flow at aortic valve level or beyond in these hearts. The present study reviews those pertinent morphological-clinical and follow-up data on 14 patients with congenitally corrected transposition and aortic valve atresia (one patient); aortic arch interruption or aortic arch atresia (two patients) and coarctation of the aorta (11 patients). All but one patient (the patient with aortic valve atresia) had a perimembranous ventricular septal defect. Mild outflow tract obstruction of the morphologically left ventricle was identified in one patient. Nine patients, however, demonstrated a significant structural and functional disturbance (Ebstein-like with dysplasia) of the systemic morphologically tricuspid valve. No patient in this series was identified with isolated aortic coarctation.     

Congenital aortic atresia with intact ventricular septum and normal left ventricle. Diagnosis by cross-sectional echocardiography

We describe the second reported case of congenital aortic atresia with normal left ventricle and intact ventricular septum. We believe this to be the first case diagnosed by cross-sectional echocardiography.     

Double orifice tricuspid valve with left atrioventricular valve atresia and univentricular connexion to a dominant left ventricle

We present a case of univentricular connexion to a dominant left ventricle with double orifice tricuspid valve, left atrioventricular valvar atresia, discordant ventriculo-arterial connexion and aortic arch hypoplasia. Diagnosis was made by cross-sectional echocardiography and angiocardiography. This case is exceedingly rare.