Sudden arrhythmia death syndrome in young victims: a five-year retrospective review and two-year prospective molecular autopsy study by next-generation sequencing and clinical evaluation of their first-degree relatives

• Published in: Hong Kong Medical Journal Vol. 25; no. 1; p. 21
• Main Authors: Mak, Chloe M, Mok, N S, Shum, H C, Siu, W K, Chong, Y K, Lee, Hencher HC, Fong, N C, Tong, S F, Lee, K W, Ching, C K, Sammy PL Chen, Cheung, W L, Tso, C B, Poon, WM, Lau, CL, Lo, Y K, Tsui, P T, Shum, S F, Lee, K C
• Format: Book Review
• Language: Chinese; English
• Published: Hong Kong Hong Kong Academy of Medicine 01.02.2019
• Subjects: Autopsies; Cardiac arrhythmia; Cardiomyopathy; Cardiovascular disease; Consent; Coronary vessels; Electrocardiography; Forensic pathology; Genes; Genomes; Heart; Mutation; Toxicology; Hong Kong; United States > US
• ISSN: 1024-2708; 2226-8707
• DOI: 10.12809/hkmj187256

Objective: Sudden arrhythmia death syndrome (SADS) accounts for about 30% of causes of sudden cardiac death (SCD) in young people. In Hong Kong, there are scarce data on SADS and a lack of experience in molecular autopsy. We aimed to investigate the value of molecular autopsy techniques for detecting SADS in an East Asian population. Methods: This was a two-part study. First, we conducted a retrospective 5-year review of autopsies performed in public mortuaries on young SCD victims. Second, we conducted a prospective 2-year study combining conventional autopsy investigations, molecular autopsy, and cardiac evaluation of the first-degree relatives of SCD victims. A panel of 35 genes implicated in SADS was analysed by next-generation sequencing. Results: There were 289 SCD victims included in the 5-year review. Coronary artery disease was the major cause of death (35%); 40% were structural heart diseases and 25% were unexplained. These unexplained cases could include SADS-related conditions. In the 2-year prosp