This review details the genetic basis and genotype-phenotype associations of arrhythmogenic cardiomyopathy to guide future precision medicine-based management.
This state-of-the-art review summarizes the genetic basis and genotype-phenotype associations of arrhythmogenic cardiomyopathy to guide future precision medicine management.
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.
Patel et al. (Thu,) conducted a review in Arrhythmogenic cardiomyopathy. Genetics and precision medicine was evaluated. This review details the genetic basis and genotype-phenotype associations of arrhythmogenic cardiomyopathy to guide future precision medicine-based management.
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