Familial cardiomyopathy, hypogonadism, and collagenoma.
A patient with tricuspid regurgitation by clinical evaluation, cardiac catheterization, and angiography was found at autopsy to have a cardiomyopathy 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 two brothers were examined and found to have similar collagenomas and testicular failure. Evidence for a mild to moderate degree of cardiomyopathy was also apparent by findings on physical examination, chest roentgenogram, electrocardiogram, and echocardiogram. The father was known to have had a similar skin lesion and congestive heart failure. The aspects of the clinical presentation of this patient and the findings in the two brothers are discussed. A common genetic link in this familial syndrome is not elucidated.
D000328:Adult; D009202:Cardiomyopathies / Q000150:complications* / Q000235:genetics; D003094:Collagen; D006801:Humans; D007006:Hypogonadism / Q000150:complications* / Q000235:genetics; D008297:Male; D008875:Middle Aged; D012535:Scalp; D012878:Skin Neoplasms / Q000150:complications* / Q000235:genetics; D014262:Tricuspid Valve Insufficiency / Q000150:complications / Q000235:genetics
D003094:Collagen