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arrhythmogenic right ventricular cardiomyopathy type 12; familial arrhythmogenic right ventricular dysplasia type 12 (ARVC12, ARVD12)
Pathology:
- partial degeneration of the myocardium of the right ventricle
- replacement of ventricular myocardium with fatty & fibrous elements
- preferential involvement of the right ventricular free wall
Genetics:
- autosomal dominant
- associated with defects in gamma-catenin (JUP)
Clinical manifestations:
- electrical instability
- sudden death
Special laboratory:
- electrocardiogram
- coronary angiography
- clinically defined by electrocardiographic & angiographic criteria
Related
Naxos disease
General
familial arrhythmogenic right ventricular dysplasia; arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVD, ARVC, ARVD/C, ARVC/D)
Database Correlations
OMIM 611528
References
UniProt :accession P14923