State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.

BORIS DOI
Publisher DOI
PubMed ID
32927679
Description
Arrhythmogenic cardiomyopathy (ACM) is an inherited cardiomyopathy characterised by ventricular arrhythmia and an increased risk of sudden cardiac death (SCD). Numerous genetic determinants and phenotypic manifestations have been discovered in ACM, posing a significant clinical challenge. Further to this, wider evaluation of family members has revealed incomplete penetrance and variable expressivity in ACM, suggesting a complex genotype-phenotype relationship. This review details the genetic basis of ACM with specific genotype-phenotype associations, providing the reader with a nuanced perspective of this condition; whilst also proposing a future roadmap to delivering precision medicine-based management in ACM.
Date of Publication
2020-09-10
Publication Type
Article
Subject(s)
600 - Technology::610 - Medicine & health
Keyword(s)
arrhythmogenic cardiomyopathy arrhythmogenic right ventricular cardiomyopathy cardiac arrhythmia desmosome genetics genotype phenotype correlation sudden cardiac death
Language(s)
en
Contributor(s)
Patel, Viraj
Siripanthong, Bhurint
Munroe, Patricia B
Tiku-Owens, Anjali
Lopes, Luis R
Khanji, Mohammed Y
Protonotarios, Alexandros
Santangeli, Pasquale
Muser, Daniele
Marchlinski, Francis E
Brady, Peter A
Chahal, C Anwar A
Additional Credits
Universitätsklinik für Kardiologie
Series
International journal of molecular sciences
Publisher
MDPI
ISSN
1422-0067
Access(Rights)
open.access
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