Arrhythmogenic right ventricular dysplasia causes: Difference between revisions

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* The gene is on the chromosome 14q23-q24
* 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
* There is an autosomal recessive trait variant associated with palmoplantar keratosis and wooly hair named Naxos disease
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== References ==
== References ==
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Revision as of 15:13, 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

References