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

Diagnostic procedures

• electrocardiogram
• coronary angiography
• clinically defined by electrocardiographic & angiographic criteria

More general terms

• familial arrhythmogenic right ventricular dysplasia

Additional terms

• Naxos disease

Database

• OMIM: https://mirror.omim.org/entry/611528