cardiomyopathy dilated type 1BB

An autosomal dominant disorder (OMIM:612877) characterised by ventricular dilation and impaired systolic function, resulting in congestive heart failure, arrhythmia and premature death.

Molecular pathology
Defects in DSG2, which encodes desmoglein 2, a calcium-binding transmembrane glycoprotein component of desmosomes, cause susceptibility to cardiomyopathy dilated type 1BB.

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