Title

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

Affiliations

Division of Cardiology, Department of Medicine, Advocate Illinois Masonic Medical Center

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.

Document Type

Article

PubMed ID

32927679

DOI

10.3390/ijms21186615

Link to Full Text

 

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