arrhythmogenic right ventricular dysplasia—familial—8

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arrhythmogenic right ventricular dysplasia—familial—82016-11-24T20:36:34+00:00

arrhythmogenic right ventricular dysplasia—familial—8

CARDIOLOGY

Definition A congenital heart disorder (OMIM:607450) characterised by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.

Molecular pathology Defects of DSP, which encodes desmoplakin, an obligate component of functional desmosomes, cause arrhythmogenic right ventricular dysplasia—familial—8 (OMIM:607450)

Synonym Arrhythmogenic right ventricular cardiomyopathy type 8 

References http://www.uniprot.org/uniprot/Q03001 

http://www.omim.org/entry/607450 

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