Congenital extracardial malformations accompanying congenital heart disease.

A statistical review of 1,354 autopsies performed in cases of congenital heart disease in three major Italian hospitals was carried out. In 446 cases one or more extracardial malformations were found; those most commonly encountered were malformations of the urinary tract, anomalies of the respiratory tract, malformations of the intestine and spleen and trisomy 21. Ventricular septal defects and persistent common atrioventricular canals occurred in a higher percentage of cases with extracardial malformations than in those where congenital heart defects were the only malformations. The reverse was true of endocardial fibroelastosis and transposition of the great vessels. Ventricular septal defects are particularly common in the Klippel-Feil syndrome, in trisomy 18 and, together with a persistent common atrioventricular canal and atrial septal defects, in trisomy 21. The typical picture of so-called "congenital heart disease associated with asplenia" was found in cases with splenic agenesis, either with or without situs inversus viscerum, but also in cases with situs inversus viscerum without asplenia.