Unravelling the Mystery of Sudden Cardiac Death Through Genetic Approaches

摘要: The sudden unexplained death syndrome is a tragic and distressing event, which may arise due to an underlying fatal cardiac arrhythmia, be associated with defective ion channel. These electrical abnormalities of the heart do not present gross structural changes, rendering it challenging task forensic pathologist in ascertaining cause during autopsies. attempts identify genetic variations key channels known arrhythmias have only been able reveal presence putative mutations small percentage cases. It thus imperative look beyond discovery single-nucleotide polymorphisms other forms (such as copy number rearrangements), well alternative mechanisms that underlie molecular pathogenesis electrocardiographic causing death. Additionally, various technological platforms for analysis are also described this article. Key Concepts: Sudden important clinical problem. Sudden result arrhythmia. Arrhythmias channel genes. Genetic often exhibit incomplete penetrance. Genetic functional impact on channel. Single-nucleotide account fraction cases. Copy chromosomal aberrations play role pathology. The such epigenetics arrhythmias/sudden remains ascertained. The technology identifying advancing rapidly. Genome-wide sequencing expected become increasingly feasible. Keywords: sudden syndrome; arrhythmias; genetic variants; ion channels; genome-wide association studies; candidate gene sequencing; next-generation