Arrhythmogenic right ventricular dysplasia causes
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
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][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
- ↑ 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.