Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study

Wang, Shouyu; Chen, Yongsheng; Du, Jianghua; Wang, Zhimin; Lin, Zijie; Hong, Guanghui; Qu, Dong; Shen, Yiwen; Li, Liliang

doi:10.1007/s00414-023-03075-1

Cited by 5 publications

(1 citation statement)

References 55 publications

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“…The study by Wang et al [8] conducted on a young Chinese cohort comprising 27 individuals aged 18-40 years, predominantly male (93%), provides significant insights into the genetic underpinnings of sudden unexplained death (SUD) in youth. This study stands out for its systematic approach to genomic analysis, utilizing the Illumina NovaSeq 6000 platform for sequencing.…”

Section: Introductionmentioning

confidence: 99%

Assessment of Sudden Cardiac Death Risk in Pediatric Primary Electrical Disorders: A Comprehensive Overview

Pupaza,

Cinteza,

Vasile

et al. 2023

Diagnostics

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Sudden cardiac death (SCD) in children is a devastating event, often linked to primary electrical diseases (PED) of the heart. PEDs, often referred to as channelopathies, are a group of genetic disorders that disrupt the normal ion channel function in cardiac cells, leading to arrhythmias and sudden cardiac death. This paper investigates the unique challenges of risk assessment and stratification for channelopathy-related SCD in pediatric patients—Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, idiopathic ventricular fibrillation, long QT syndrome, Anderson–Tawil syndrome, short QT syndrome, and early repolarization syndrome. We explore the intricate interplay of genetic, clinical, and electrophysiological factors that contribute to the complex nature of these conditions. Recognizing the significance of early identification and tailored management, this paper underscores the need for a comprehensive risk stratification approach specifically designed for pediatric populations. By integrating genetic testing, family history, and advanced electrophysiological evaluation, clinicians can enhance their ability to identify children at the highest risk for SCD, ultimately paving the way for more effective preventive strategies and improved outcomes in this vulnerable patient group.

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Section: Introductionmentioning

confidence: 99%

Assessment of Sudden Cardiac Death Risk in Pediatric Primary Electrical Disorders: A Comprehensive Overview

Pupaza,

Cinteza,

Vasile

et al. 2023

Diagnostics

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Molecular autopsy in Chinese sudden cardiac death in the young

Kwok,

Ho,

Shih

et al. 2024

American J of Med Genetics Pt A

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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.

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Sudden unexplained death requires not only search for variants in SUD genes. but also extended autopsy, including the brain

Finsterer,

Mehri,

Zarrouk

2023

Int J Legal Med

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Post-mortem genetic analysis of sudden unexplained death in a young cohort: a whole-exome sequencing study

Cited by 5 publications

References 55 publications

Assessment of Sudden Cardiac Death Risk in Pediatric Primary Electrical Disorders: A Comprehensive Overview

Assessment of Sudden Cardiac Death Risk in Pediatric Primary Electrical Disorders: A Comprehensive Overview

Molecular autopsy in Chinese sudden cardiac death in the young

Sudden unexplained death requires not only search for variants in SUD genes. but also extended autopsy, including the brain

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