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.
HARVEY N. SACKS, I. SYLVIA CRAWLEY, JOHN A. WARD, ROBERT M. FINE. Familial Cardiomyopathy, Hypogonadism, and Collagenoma. Ann Intern Med. 1980;93:813–817. doi: 10.7326/0003-4819-93-6-813
Download citation file:
Published: Ann Intern Med. 1980;93(6):813-817.
Results provided by:
Copyright © 2017 American College of Physicians. All Rights Reserved.
Print ISSN: 0003-4819 | Online ISSN: 1539-3704
Conditions of Use