Health Dictionary
Reliable, easy-to-read patient information on common medical conditions — written in plain language, free of jargon, and grounded in current evidence. Browse the most frequent diagnoses, understand what they mean for everyday life, and learn which steps and questions help you have a focused conversation with your doctor.
ARVD12
Introduction
Synonyms and keywords: Arrhythmogenic right ventricular dysplasia type 12; arrhythmogenic right ventricular cardiomyopathy 12; ARVC12
Overview
Overview
Arrhythmogenic right ventricular dysplasia is a type of nonischemic cardiomyopathy that involves primarily the right ventricle. It is characterized by hypokinetic areas involving the free wall of the right ventricle, with fibrofatty replacement of the right ventricular myocardium, with associated arrhythmias originating in the right ventricle.
Pathophysiology
Pathophysiology
The pathogenesis of ARVD involves apoptosis with fatty and fibro-fatty infiltration of the right ventricular free wall leading to heart failure and ventricular arrhythmias.
Genetics
This variant (611528) is associated with a mutation in the JUP gene (173325) on chromosome 17q21.[1]
Epidemiology and Demographics
Epidemiology and Demographics
Natural History, Complications, Prognosis
Natural History, Complications, Prognosis
Diagnosis
Diagnosis
Symptoms
Electrocardiogram
Echocardiogram
MRI
References
References
- ↑ Asimaki A, Syrris P, Wichter T et-al. A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy. Am. J. Hum. Genet. 2007;81 (5): 964-73. doi:10.1086/521633 – Free text at pubmed – Pubmed citation
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]