The hearts of three children who died with Duchenne's progressive muscular dystrophy and features of mitral valve prolapse were examined to find if the valve disorder arose from cardiomyopathy due to the primary disease or from dystrophic changes in th mitral valve itself. Gross, histologic and ultrastructural features of mitral valve annulus, anterior and posterior leaflets, chordae tendineae, right and left ventricles, and anterior and posterior papillary muscles were compared with those of similar tissues from normal children of matched age and sex. Fibrosis and myofibrillar lysis--most extensive in posterior papillary muscle and in the posterobasal segment of the left ventricle--were the main histopathologic findings. Myofibrillar lysis was characterized by a total loss of actin and myosin myofilaments. By contrast, the mitral valve annulus, its leaflets and the origin, distribution pattern, length and thickness of chordae tendineae were entirely normal. These observations establish that mitral valve prolapse syndrome in Duchenne's dystrophy is an expression of cardiomyopathy involving papillary muscle and ventricular myocardium rather than a result of dystrophic changes in the mitral valve leaflets, annulus or chordae tendineae.

Mycoplasma infection was present in the fetuses from three spontaneous abortions and in one second-trimester newborn. Gross examination revealed in most cases a severely infected placenta and membranes, with a fetus of normal appearance. The fetal infection presumably followed placental involvement and appeared to have been acquired shortly prior to delivery. Genital mycoplasmas, Ureaplasma urealyticum or Mycoplasma hominis, were isolated from the placentas and the fetal tissues, and from the genital tracts of the mothers. Isolation of mycoplasmas from the liver indicated that bloodstream dissemination of these organisms occurred in the fetus. In the fetus, the pathologic changes were variable. Lesions were identified in the lung by scanning electron microscopy of the bronchial tree in two cases and were accompanied by interstitial pneumonia. An abnormally dilated left ventricle suggestive of cardiomyopathy was observed in one case.

A fetus with trisomy 13 syndrome and teratomas of liver and neck is described. The relationship of aneuploidy and chromosomal instability to neoplasia is discussed. Teratomas of the liver are reviewed.

A morphologic study of the tricuspid valve was performed in 70 patients with pulmonary atresia and intact ventricular septum who had died and subsequently undergone autopsy. The right ventricular cavity was enlarged in 8 patients, normal in 4 patients, mildly underdeveloped in 18 patients, and markedly underdeveloped in 24 patients. In the patients with dilated and enlarged right ventricle, the tricuspid valve exhibited features of dysplasia or Ebstein's malformation (downward displacement), or both, with a dilated anulus. The majority of patients had restriction of the tricuspid valve apparatus and an underdeveloped anulus, usually of a severe degree. The right ventricle appeared to have normal dimensions in four patients, but the tricuspid valve and tensor apparatus, even in these patients, exhibited departures from the normal. This study suggests that in many of these patients adequate right ventricular growth will not be achieved because of inadequate right ventricular filling. This seems directly related to moderate or severe underdevelopment of the tricuspid valve.

2 patients with viscero-atrial situs solitus, isolated ventricular inversion (IVI) and double inlet right-sided morphologic left ventricle are presented. Isolated ventricular inversion is a rare cardiac anomaly characterized by ventricular inversion, subpulmonary conus, and ventriculo-arterial concordance. Their angiocardiographic and pathologic features are presented, and the morphologic findings of the 9 patients in the literature with isolated ventricular inversion are reviewed. Of the 11 known patients with isolated ventricular inversion, levocardia was present in 10 and dextrocardia in 1; viscero-atrial situs solitus in 9 and inversus in 2; L-ventricular loop in 9 and D-loop in 2. The atrial septum was intact in 4. An intact ventricular septum was noted in only 2 patients while in 3, more than one ventricular septal defects were present, and 2 patients exhibited morphologic single ventricle. A solitary ventricular septal defect was noted in the remainder. Significant tricuspid valve abnormalities, including atresia, stenosis or hypoplasia with supravalvular fibrous ring were found in 7 patients. In 2 of these, both with significant obstruction at the tricuspid valve, both atrioventricular valves emptied into the morphologic left ventricle--thus isolated ventricular inversion with double inlet left ventricle. Pulmonary outflow tract obstruction was evident in only 3 patients. Total anomalous pulmonary venous return occurred twice and right juxtaposition of the atrial appendages once. Thus, while the patient with isolated ventricular iversion may present with clinical and hemodynamic features characteristic of classical transposition physiology the high frequency of significant associated anomalies would complicate this. Finally, the anomaly must be differentiated from the levo-transposition, isolated atrial inversion, and the anatomically corrected malpositions.

Ninety-nine of 1,362 congenitally malformed hearts (7.3 percent) obtained from patients 1 year of age or younger in the Cardiovascular Registry of The Hospital for Sick Children, Toronto, Canada were identified as having subaortic stenosis or atresia. The median age at death of these patients was 23 days (range less than 1 day to 1 year). Although multiple pathologic mechanisms were identified as potentially responsible for subaortic stenosis in this age group, those observed most frequently were (1) conoventricular malalignment, (2) adherent mitral valve, (3) accessory endocardial cushion tissue, (4) restrictive bulboventricular foramen, (5) poorly expanded subaortic conus, or combinations of these. The relatively discrete forms of subaortic stenosis including the fibrous membrane, fibromuscular, hypertrophic obstructive or tunnel forms were noted in only three patients. The remaining 96 patients with subaortic obstruction manifested a wide-spectrum of complex cardiac malformations including interruption or atresia of the aortic arch (29 patients); primitive ventricle with outlet chamber and transposition of the great arteries (12 patients); endocardial cushion defect (12 patients); aortic atresia with normal left ventricle (7 patients); tricuspid atresia with D-transposition of the great arteries (6 patients); and coarctation syndrome (7 patients). The remaining 23 patients had a variety of cardiovascular malformations. Frequently, more than one pathologic mechanism could be identified as causing subaortic obstruction in a single patient; and among any group of patients with a specific congenital defect (interruption of the aortic arch, for example), more than one mechanism could usually be identified. Sixty-eight of these 99 patients had some anomaly of the aortic arch, indicating reduced aortic flow. It is concluded that subaortic obstruction can result from a variety of mechanisms, but that significant intracardtac obstruction to systemic blood flow is usually just part of severely distorted cardiac anatomy. Ninety-nine of 1,362 congenitally malformed hearts (7.3 percent) obtained from patients 1 year of age or younger in the Cardiovascular Registry of The Hospital for Sick Children, Toronto, Canada were identified as having subaortic stenosis or atresia. The median age at death of these patients was 23 days (range less than 1 day to 1 year). Although multiple pathologic mechanisms were identified as potentially responsible for subaortic stenosis in this age group, those observed most frequently were (1) conoventricular malalignment, (2) adherent mitral valve, (3) accessory endocardial cushion tissue, (4) restrictive bulboventricular foramen, (5) poorly expanded subaortic conus, or combinations of these. The relatively discrete forms of subaortic stenosis including the fibrous membrane, fibromuscular, hypertrophic obstructive or tunnel forms were noted in only three patients. The remaining 96 patients with subaortic obstruction manifested a wide-spectrum of complex cardiac malformations including interruption or atresia of the aortic arch (29 patients); primitive ventricle with outlet chamber and transposition of the great arteries (12 patients); endocardial cushion defect (12 patients); aortic atresia with normal left ventricle (7 patients); tricuspid atresia with D-transposition of the great arteries (6 patients); and coarctation syndrome (7 patients). The remaining 23 patients had a variety of cardiovascular malformations. Frequently, more than one pathologic mechanism could be identified as causing subaortic obstruction in a single patient; and among any group of patients with a specific congenital defect (interruption of the aortic arch, for example), more than one mechanism could usually be identified. Sixty-eight of these 99 patients had some anomaly of the aortic arch, indicating reduced aortic flow. It is concluded that subaortic obstruction can result from a variety of mechanisms, but that significant intracardtac obstruction to systemic blood flow is usually just part of severely distorted cardiac anatomy.

Although aortic valve atresia is usually associated with severe underdevelopment of the mitral apparatus and left ventricle in rare cases of aortic atresia, the left ventricle may be of normal size, or even enlarged. This occurrence seems related to the presence of a significant ventricular septal defect. We have presented the morphologic findings in seven patients with aortic atresia and normally developed left ventricle, (six necropsied patients, and one studied angiocardiographically). Four autopsied patients had conal type ventricular septal defects, characterized in three by conoventricular malalignment. Subaortic atresia in these patients resulted from leftward deviation of the conal septum. One patient with aortic atresia and well-developed left ventricle had a membranous defect, and one patient had a complete A-V canal. The ventricular septal defect in the patients with conoventricular malalignment are very similar to the conal VSD observed in patients with aortic arch interruptions. Although ultimate survival with these uncommon groupings of anomalies necessitates patency of the ductus arteriosus, clinical recognition rests on (1) awareness of its existence, (2) ultrasonography, and (3) selective biventricular and aortic angiography. It is possible that some of these patients might be candidates for ventriculo-aortic reconstitiution.

Although the angiocardiographic features of the endocardial cushion defect (ECD) have been well described in the patient with two normally related ventricles (D-ventricular loop in situs solitus) and normally related great arteries, little attention has been focused on the angiocardiographic appearance of the ECD in patients with complex cardiovascular disease. Because of recent surgical advances in the treatment of single ventricle and double outlet right ventricle complexes, it has become increasingly important to document the status of the atrioventricular valves in these patients. The angiocardiographic features of the ECD are therefore described in two patients, one with D-loop, single left ventricle and outlet chamber, D-transposition of the great arteries, bilateral conus and pulmonary stenosis and the other with dextrocardia, situs inversus, double outlet right ventricle, common atrioventricular canal and pulmonary stenosis. In both patients, the left ventricular outflow tract, despite aortic-mitral discontinuity, is characterized by elongation, scalloping and serration, and the classic appearance of the "gooseneck" deformity is observed on left ventricular angiography. It thus appears that aortic-mitral continuity and two well-formed, normally related ventricles and great arteries are not invariable necessary to the manifestation of the "gooseneck" deformity in the patient with complex cardiovascular disease and associated endocardial cushion defect.

Aortic valve atresia is usually associated with severe hypoplasia of the left ventricle and mitral apparatus. Palliative procedures, including atrial septectomy, pulmonary artery-aorta anastomosis, and pulmonary artery banding, have been performed in some patients. However, because of the distinct underdevelopment of the left heart, the long-term prognosis must be guarded even in the survivors of these procedures. Rarely, aortic valve atresia is found with adequate left heart chambers. Because very few of these patients are described, the clinical, angiocardiographic, and the pathological findings in two patients are presented, with comments on palliation in the neonatal period, and the potential for ventriculoaortic reconstitution.

Patients with isolated total interruption of the arch of the aorta not accompanied by other cardiovascular anomalies may survive to advanced age. Their symptoms and course resemble those of patients with postductal coarctation of the aorta. However, there are basic differences in the pathologic findings in these two types of anomalies that may be of aid in the radiographic diagnosis.

ispresented.Similarity to the 'scimitar' syndrome and developmental considerations are discussed.

Twenty-four patients with thalassemia major and no urinary tract complaints underwent excretory urography. The kidneys were large bilaterally in 17 patients; 2 other patients had enlargement of the left kidney. The autopsies of 13 patients were reviewed; the kidneys were large in all 13. Tubular dilatation was constant, and the glomeruli were normal. Iron deposition was relatively low; extramedullary hematopoiesis, fibrosis, and scarring were insignificant in the kidneys of the patients who died of thalassemia major. Tubular dilatation, which causes an increase in renal mass, is the most likely explanation of the large kidneys in patients with thalassemia major.