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

• 影响指数: 6.208
• 发表时间: Sep 2020 10
• 来源期刊: Int J Mol Sci
• DOI: 10.3390/ijms21186615
• PMID: 32927679
• 文章类型: Journal Article
• 中科院分区: Q2
• 方向: 生物
• 作者列表: Patel V,Asatryan B,Siripanthong B,Munroe PB,Tiku-Owens A,Lopes LR,Khanji MY,Protonotarios A,Santangeli P,Muser D,Marchlinski FE,Brady PA,Chahal CAA

关键词: arrhythmogenic cardiomyopathy; arrhythmogenic right ventricular cardiomyopathy; cardiac arrhythmia; desmosome; genetics; genotype phenotype correlation; sudden cardiac death

Mesh: Arrhythmogenic Right Ventricular Dysplasia / classification diagnostic imaging genetics; Cardiac Imaging Techniques; Genes, Modifier; Humans; Magnetic Resonance Imaging

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.