Arrhythmogenic right ventricular dysplasia causes
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
Arrhythmogenic right ventricular cardiomyopathy is cause by genetic inheritance as:[1]
- 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
- ↑ 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.