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="pmid7951245">{{cite journal| author=Rampazzo A, Nava A, Danieli GA, Buja G, Daliento L, Fasoli G | display-authors=etal| title=The gene for arrhythmogenic right ventricular cardiomyopathy maps to chromosome 14q23-q24. | journal=Hum Mol Genet | year= 1994 | volume= 3 | issue= 6 | pages= 959-62 | pmid=7951245 | doi=10.1093/hmg/3.6.959 | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=7951245 }}</ref> | ||
* An autosomal dominant pattern with variable penetrance and incomplete expression. | * An autosomal dominant pattern with variable penetrance and incomplete expression. | ||
Revision as of 15:12, 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
- ↑ 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.