Arrhythmogenic right ventricular dysplasia causes: Difference between revisions

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==Causes==
==Causes==
Arrhythmogenic right ventricular cardiomyopathy is cause by genetic inheritance as:
Arrhythmogenic right ventricular cardiomyopathy is cause by genetic inheritance as:<ref name="pmid11984022">{{cite journal| author=Protonotarios NI, Tsatsopoulou AA, Gatzoulis KA| title=Arrhythmogenic right ventricular cardiomyopathy caused by a deletion in plakoglobin (Naxos disease). | journal=Card Electrophysiol Rev | year= 2002 | volume= 6 | issue= 1-2 | pages= 72-80 | pmid=11984022 | doi=10.1023/a:1017943323473 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=11984022  }} </ref>


* An autosomal dominant pattern with variable penetrance and incomplete expression.  
* An autosomal dominant pattern with variable penetrance and incomplete expression.  

Revision as of 15:17, 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:[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

  1. 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.