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
- ↑ 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.