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Protonotarios, Alexandros

https://orcid.org/0000-0001-8595-7212

A5038518412 | I1307195382

Mayo Clinic

St Bartholomew's Hospital

Citations 1

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

International Journal of Molecular Sciences | September 10, 2020 | Volume: 21 | Issue: 18 | Pages: 6615

10.3390/ijms21186615 | PMID 32927679

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.