HARVEY N. SACKS, M.D.; I. SYLVIA CRAWLEY, M.D.; JOHN A. WARD, M.D.; ROBERT M. FINE, M.D.
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.
SACKS HN, CRAWLEY IS, WARD JA, FINE RM. Familial Cardiomyopathy, Hypogonadism, and Collagenoma. Ann Intern Med. ;93:813–817. doi: 10.7326/0003-4819-93-6-813
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Published: Ann Intern Med. 1980;93(6):813-817.
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