Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People

• Published in: International Heart Journal Vol. 65; no. 1; pp. 55 - 62
• Main Authors: Miura, Aya, Yamamoto, Takuma, Funayama, Kazuhisa, Koyama, Akihide, Takatsuka, Hisakazu, Sato, Takako, Nishio, Hajime
• Format: Journal Article
• Language: English
• Published: Japan International Heart Journal Association 01.01.2024; Japan Science and Technology Agency
• Subjects: Arrhythmia; Autopsy; Coronary artery disease; Death; DNA sequencing; Genetic analysis; Genetic counseling; Genetic diversity; Heart diseases; Metabolic autopsy; Molecular autopsy; Next-generation sequencing; Pathogenicity; Phenotypes; Postmortem genetic analysis; Sudden death; Metabolic autopsy; Postmortem genetic analysis; Molecular autopsy; Next-generation sequencing; Arrhythmia; Sudden death
• ISSN: 1349-2365; 1349-3299
• DOI: 10.1536/ihj.23-252

Sudden unexpected death in the young (SUDY) is a traumatic occurrence for their family; however, information on the genetic variations associated with the condition is currently lacking. It is important to carry out postmortem genetic analyses in cases of sudden death to provide information for relatives and to allow appropriate genetic counselling and clinical follow-up. This study aimed to investigate the genetic variations associated with the occurrence of SUDY in Japan, using next-generation sequencing (NGS). The study included 18 cases of SUDY (16 males, 2 females; age 15-47 years) who underwent autopsy, including NGS DNA sequencing for molecular analysis. A total of 168 genes were selected from the sequencing panel and filtered, resulting in the identification of 60 variants in cardiac disease-related genes. Many of the cases had several of these genetic variants and some cases had a cardiac phenotype. The identification of genetic variants using NGS provides important information regarding the pathogenicity of sudden death.