Molecular autopsy in Chinese sudden cardiac death in the young.

Autor: Kwok SY; Department of Paediatrics and Adolescent Medicine, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR., Ho S; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR., Shih FY; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR., Yeung PK; Department of Health, Forensic Pathology Service, Kowloon, Hong Kong SAR., Cheng SSW; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR., Poon WM; Department of Health, Forensic Pathology Service, Kowloon, Hong Kong SAR., Lo IFM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR., Luk HM; Clinical Genetics Service Unit, Hong Kong Children's Hospital, Kowloon, Hong Kong SAR.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Nov; Vol. 194 (11), pp. e63797. Date of Electronic Publication: 2024 Jul 03.
DOI: 10.1002/ajmg.a.63797
Abstrakt: Inherited cardiovascular conditions are significant causes of sudden cardiac death in the young (SCDY), making their investigation using molecular autopsy and prevention a public health priority. However, the molecular autopsy data in Chinese population is lacking. The 5-year result (2017-2021) of molecular autopsy services provided for victims of SCDY (age 1-40 years) was reviewed. The outcome of family cascade genetic screening and clinical evaluation was reviewed. A literature review of case series reporting results of molecular autopsy on SCDY in 2016-2023 was conducted. Among the 41 decedents, 11 were found to carry 13 sudden cardiac death (SCD)-causative genetic variants. Likely pathogenic (LP) variants were identified in the DSP, TPM1, TTN, and SCN5A genes. Cascade genetic testing identified four family members with LP variants. One family member with familial TPM1 variant was found to have hypertrophic cardiomyopathy upon clinical evaluation. This study provided insight into the genetic profile of molecular autopsy in a Chinese cohort of SCDY. The detection of important SCD-causative variants through molecular autopsy has facilitated family cascade screening by targeted genetic testing and clinical evaluation of at-risk family members. A literature review of the current landscape of molecular autopsy in the investigation of SCDY was conducted.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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