cardiomyopathy, dilated, type 2A

cardiomyopathy, dilated, type 2A

An autosomal recessive cardiomyopathy (OMIM:611880) characterised by ventricular dilation and impaired systolic function, resulting in congestive heart failure, arrhythmia and premature death.

Molecular pathology
Caused by defects of TNNI3, which encodes type-3 troponin I protein, TnI-cardiac (exclusively expressed in heart muscle).
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