cardiomyopathy dilated type 1BB
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.