Targeted genetic analysis in a cohort of sporadic death from spontaneous rupture of thoracic aortic dissection in Han Chinese population.
Forensic Sci Int Genet
; 71: 103051, 2024 Jul.
Article
in En
| MEDLINE
| ID: mdl-38670007
ABSTRACT
PURPOSE:
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.METHODS:
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.RESULTS:
We identified 7 pathogenic or likely pathogenic (P/LP) variants in 7 cases (11.48â¯%) and 22 variants of uncertain significance (VUS) in 22 cases (36.07â¯%). 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.CONCLUSION:
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.Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Aortic Aneurysm, Thoracic
/
Exome Sequencing
/
Aortic Dissection
Limits:
Adult
/
Aged
/
Female
/
Humans
/
Male
/
Middle aged
Country/Region as subject:
Asia
Language:
En
Journal:
Forensic Sci Int Genet
Journal subject:
GENETICA
/
JURISPRUDENCIA
Year:
2024
Document type:
Article
Affiliation country: