Details

Autor(en) / Beteiligte

• Zhao, Qianhao
• Zhou, Nan
• Wu, Qiuping
• Zhang, Kai
• Yue, Jiacheng
• Zheng, Da
• Wang, Yunyi
• Xiao, Yuxi
• Li, Rui
• Cheng, Ruofei
• Quan, Li
• Huang, Erwen
• Hu, Bingjie
• Cheng, Jianding

Titel

Targeted genetic analysis in a cohort of sporadic death from spontaneous rupture of thoracic aortic dissection in Han Chinese population

Ist Teil von

• Forensic science international : genetics, 2024-07, Vol.71, p.103051-103051, Article 103051

Ort / Verlag

Netherlands: Elsevier B.V

Erscheinungsjahr

2024

Quelle

Elsevier ScienceDirect Journals

Beschreibungen/Notizen

• Thoracic aortic dissection (TAD) is a life-threatening cardiovascular disease that often results in sudden cardiac death (SCD). However, the genetic characteristics of individuals with TAD confirmed at autopsy have been rarely studied. Our objective was to determine the prevalence of pathogenic variants in TAD-associated genes in a cohort of sporadic deaths resulting from spontaneous rupture of TAD and identify relevant genotype-phenotype relationships in Han Chinese population. We included sixty-one consecutive sporadic decedents whose primary cause of death was spontaneous rupture of TAD, and performed a whole exome sequencing based strategy comprising 26 known TAD-associated genes. We identified 7 pathogenic or likely pathogenic (P/LP) variants in 7 cases (11.48 %) and 22 variants of uncertain significance (VUS) in 22 cases (36.07 %). The FBN1 gene was found to be the major disease-causing gene. Notably, TAD decedents with P/LP variant exhibited significantly earlier mortality. Moreover, we reported for the first time that TAD decedents with P/LP variant had a shorter diagnosis and treatment time. Our study investigated the genetic characteristics of TAD individuals confirmed until autopsy in Han Chinese population. The findings enhanced the understanding of the genetic underpinnings of TAD and have significant implications for clinical management and forensic investigations. •Our study is the largest genetic sequencing analysis of thoracic aortic dissection (TAD) decedents to date, finding that 11.48% carried pathogenic or likely pathogenic (P/LP) variants, primarily in the FBN1 gene.•Our study found a correlation between these P/LP variants and earlier mortality among TAD decedents, suggesting that genotype could influence the severity of TAD.•Our study reported for the first time that TAD decedents with P/LP variants exhibit a trend of shorter diagnosis and treatment time compared to those without such variants.