State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.
Published version
Peer-reviewed
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Repository DOI
Type
Article
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Authors
Patel, Viraj
Asatryan, Babken https://orcid.org/0000-0002-0050-5717
Siripanthong, Bhurint
Munroe, Patricia B https://orcid.org/0000-0002-4176-2947
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
1422-0067
Volume Title
21
Publisher
MDPI AG