Familial Cardiomyopathy, Hypogonadism, and Collagenoma

Abstract

A patient with tricuspid regurgitation by clinical evaluation, cardiac catheterization and angiography had a cardiomyopathy at autopsy involving both ventricles but with predominant involvement of the right ventricle. He also had primary testicular failure and a distinctive type of collagenoma. The patient''s 2 brothers had similar collagenomas and testicular failure. Evidence for a mild to moderate degree of cardiomyopathy was also apparent by findings on physical examination, chest roentgenogram, ECG and echocardiogram. The father had a similar skin lesion and congestive heart failure. The aspects of the clinical presentation of this patient and the findings in the 2 brothers are discussed. A common genetic link in this familial syndrome is not elucidated.