arrhythmogenic right ventricular dysplasia—familial—10

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arrhythmogenic right ventricular dysplasia—familial—102016-11-24T20:34:03+00:00

arrhythmogenic right ventricular dysplasia—familial—10 

CARDIOLOGY

An autosomal dominant condition (OMIM:610193) characterized by fibrofatty infiltration and degeneration of the right ventricular myocardium, resulting in ventricular and supraventricular arrhythmias, and sudden death.

Diagnosis EKG/ECG, angiographic criteria

Pathology Fibrofatty replacement of the right ventricle’s free wall myocardium.

Molecular pathology Defects in DSG2, which encodes desmoglein 2, a calcium-binding transmembrane glycoprotein component of desmosomes, cause arrhythmogenic right ventricular dysplasia—familial—10.  

Synonyms Arrhythmogenic right ventricular cardiomyopathy 10, ARVC10, ARVD10 

References http://www.uniprot.org/uniprot/Q14126

http://www.omim.org/entry/610193

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