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

Published version
Peer-reviewed

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Authors

Patel, Viraj 
Siripanthong, Bhurint 
Tiku-Owens, Anjali 

Abstract

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.

Description

Keywords

arrhythmogenic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, cardiac arrhythmia, desmosome, genetics, genotype phenotype correlation, sudden cardiac death, Arrhythmogenic Right Ventricular Dysplasia, Cardiac Imaging Techniques, Genes, Modifier, Humans, Magnetic Resonance Imaging

Journal Title

Int J Mol Sci

Conference Name

Journal ISSN

1422-0067
1422-0067

Volume Title

21

Publisher

MDPI AG