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.
Arrhythmogenic right ventricular dysplasia causes
Introduction
Overview
Overview
Arrhythmogenic right ventricular cardiomyopathy is typically inherited as an autosomal dominant pattern with variable penetrance and incomplete expression. Approximately 40% to 50% of ARVC/D patients have a mutation in genes encoding a desmosome protein. The gene is on the chromosome 14q23-q24.There is an autosomal recessive trait variant associated with palmoplantar keratosis and wooly hair named Naxos disease.
Causes
Causes
Arrhythmogenic right ventricular cardiomyopathy is cause by genetic inheritance as:[1][2]
- An autosomal dominant pattern with variable penetrance and incomplete expression.
- A mutation in genes encoding a desmosome protein ( 40% to 50% of ARVC/D patients)
- The gene is on the chromosome 14q23-q24
- There is an autosomal recessive trait variant associated with palmoplantar keratosis and wooly hair named Naxos disease
References
References
- ↑ Protonotarios NI, Tsatsopoulou AA, Gatzoulis KA (2002). “Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease)”. Card Electrophysiol Rev. 6 (1–2): 72–80. doi:10.1023/a:1017943323473. PMID 11984022.
- ↑ Rampazzo A, Nava A, Danieli GA, Buja G, Daliento L, Fasoli G; et al. (1994). “The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24”. Hum Mol Genet. 3 (6): 959–62. doi:10.1093/hmg/3.6.959. PMID 7951245.
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]