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

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

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...

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Bibliographic Details
Main Authors: Viraj Patel, Babken Asatryan, Bhurint Siripanthong, Patricia B. Munroe, Anjali Tiku-Owens, Luis R. Lopes, Mohammed Y. Khanji, Alexandros Protonotarios, Pasquale Santangeli, Daniele Muser, Francis E. Marchlinski, Peter A. Brady, C. Anwar A. Chahal
Format: Article
Language:English
Published: MDPI AG 2020-09-01
Series:International Journal of Molecular Sciences
Subjects:
arrhythmogenic cardiomyopathy
genetics
arrhythmogenic right ventricular cardiomyopathy
desmosome
cardiac arrhythmia
sudden cardiac death
Online Access:https://www.mdpi.com/1422-0067/21/18/6615
Description
Summary: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.
ISSN:1661-6596
1422-0067

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