Congenital heart disease in male and female subjects with somatic features of Turner's syndrome and normal sex chromosomes (Ullrich's and related syndromes).

Abstract

The distribution of types of congenital heart disease in male andfemale subjects with the somatic features of Turner's syndrome, but normal chromosomes (Ullrich's syndrome in males andfemales; Turner's syndrome in males), is reported. Detailed information was derived from cardiac cath- ,terization, operation, and necropsy findings in 44 published cases and 22 new cases. The dis- ,,ribution of types of congenital heart disease in the 22 new patients is compared with a group of watched patient controls with congenital heart disease. Pulmonary valve stenosis is much more frequent in the patients with 'Turner-like' syndrome and normal chromosomes, and in the :,ontrols it is often associated with primum atrial septal defect. Other lesions that occurred more ;ommonly than in the control group were persistent ductus arteriosus, anomalous pulmonary venous drainage, coarctation of the aorta (though not as frequently as in 45,X Turner's syn- frome), and hypertrophic obstructive cardiomyopathy. Lesions less frequent in the ' Turner-like' vroup were ventricular septal defect, Fallot's tetralogy, valvar aortic stenosis, and complete transposition of the great vessels.