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Genetic and Rare Diseases Information Center (GARD)

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Cardiomyopathy hypogonadism collagenoma syndrome

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Your Question

Could you tell me some of the symptoms of cardiomyopathy hypogonadism collagenoma syndrome?  How many of these particular symptoms is required for a positive diagnosis to be established?  Are the criteria for diagnosis different for children than adults?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

What is cardiomyopathy hypogonadism collagenoma syndrome?

Cardiomyopathy hypogonadism collagenoma syndrome is a condition that primarily affects the heart, skin, and testes in males. Affected individuals may have the following heart problems: tricuspid regurgitation, cardiomyopathy (especially of the right ventricle), atrial fibrillation, and chronic congestive heart failure. People with this condition have skin abnormalities in which collagen predominates (collagenomas). Males with this condition may have testicular failure, which is is the inability of the testicles to produce sperm or male hormones. Cardiomyopathy hypogonadism collagenoma syndrome is likely inherited in an autosomal dominant pattern.[1]
Last updated: 4/28/2009

What are the diagnostic criteria for cardiomyopathy hypogonadism collagenoma syndrome?

There are no established diagnostic criteria for cardiomyopathy hypogonadism collagenoma syndrome. Only one family has been reported to have this condition in the medical literature.[1]
Last updated: 4/28/2009