Arrhythmogenic right ventricular dysplasia causes: Difference between revisions
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* There is an autosomal recessive trait variant associated with palmoplantar keratosis and wooly hair named Naxos disease | * There is an autosomal recessive trait variant associated with palmoplantar keratosis and wooly hair named Naxos disease | ||
== References == | ==References== | ||
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Revision as of 15:16, 20 May 2020
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:
- 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