Authors
Kanako Koike Fukushima, Takahiro Itaya, Yuko Kamiakito, Seiko Ohno, Hirokazu Kotani, Shoji Tsuji, Masakazu Nishigaki
Published in
Genetics in medicine : official journal of the American College of Medical Genetics. Pages 102714. Sep 08, 2026. Epub Sep 08, 2026.
Abstract
Postmortem genetic testing (PMGT) can clarify the causes of sudden cardiac death (SCD) in children and young adults and provide preventive care for relatives. We systematically reviewed studies to estimate the detection rate of pathogenic variants identified by PMGT in SCD cases aged 1-50 years and examined factors influencing detection rates.
Ovid MEDLINE and Ovid Embase were searched for observational studies on PMGT in cases of SCD, records in duplicate were screened, and study- and variant-level data were extracted. Risk of bias was assessed using the Joanna Briggs Institute checklist. The pooled detection rates were estimated using random-effects meta-analysis, and heterogeneity was explored based on subgroup and meta-regression analyses.
Sixty-six studies (4,452 cases from 23 countries) were included. The pooled detection rate was 19% (95% confidence interval, 15% to 24%). Among the detected pathogenic variants, 76% were found in genes included on the ACMG Secondary Findings list. Higher detection rates were associated with earlier publication years, lower mean age, and lower risk of bias. Substantial between-study heterogeneity persisted (I2 = 91%) despite the subgroup and meta-regression analyses.
PMGT can be used to identify pathogenic variants in young SCD cases, however, there is considerable heterogeneity in study conditions.
PMID:
42708325
Bibliographic data and abstract were imported from PubMed on 08 Sep 2026.
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