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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

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.[1]


  1. Familial cardiomyopathy, hypogonadism, and collagenoma. Sacks, H.N., Crawley, I.S., Ward, J.A., Fine, R.M. Ann. Intern. Med. (1980) [Pubmed]
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