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. 2023 Aug 29;18(1):251.
doi: 10.1186/s13023-023-02855-7.

Analysis of the genetic contribution to thoracic aortic aneurysm or dissection in a prospective cohort of patients with familial and sporadic cases in East China

Yanyu Duan  1   2   3 , Jianxian Xiong  2 , Zhenghong Lai  2 , Yiming Zhong  1   2   3 , Chengnan Tian  2 , Zhiming Du  2 , Zhifang Luo  2 , Junjian Yu  2 , Wentong Li  2 , Weichang Xu  2 , Yabing Wang  1 , Ting Ding  2 , Xuehong Zhong  2 , Mengmeng Pan  1 , Yu Qiu  1   2   3 , Xuemei Lan  1   2   3 , Taihua Chen  2 , Peijun Li  2 , Kang Liu  2 , Meng Gao  2 , Yanqiu Hu  2 , Ziyou Liu  4   5   6
Affiliations

Analysis of the genetic contribution to thoracic aortic aneurysm or dissection in a prospective cohort of patients with familial and sporadic cases in East China

Yanyu Duan et al. Orphanet J Rare Dis. .

Abstract

Background: Thoracic aortic aneurysm or dissections (TAADs) represent a group of life-threatening diseases. Genetic aetiology can affect the age of onset, clinical phenotype, and timing of intervention. We conducted a prospective trial to determine the prevalence of pathogenic variants in TAAD patients and to elucidate the traits related to harbouring the pathogenic variants. One hundred and one unrelated TAAD patients underwent genetic sequencing and analysis for 23 TAAD-associated genes using a targeted PCR and next-generation sequencing-based panel.

Results: A total of 47 variants were identified in 52 TAAD patients (51.5%), including 5 pathogenic, 1 likely pathogenic and 41 variants of uncertain significance. The pathogenic or likely pathogenic (P/LP) variants in 4 disease-causing genes were carried by 1 patient with familial and 5 patients with sporadic TAAD (5.9%). In addition to harbouring one variant causing familial TAAD, the FBN1 gene harboured half of the P/LP variants causing sporadic TAAD. Individuals with an age of onset less than 50 years or normotension had a significantly increased genetic risk.

Conclusions: TAAD patients with a younger age at diagnosis or normotension were more likely to carry a P/LP variant; thus, routine genetic testing will be beneficial to a better prognosis through genetically personalized care prior to acute rupture or dissection.

Keywords: High-throughput DNA sequencing; Sporadic TAAD; TAAD Genetics; Thoracic aortic aneurysm or dissection.

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Conflict of interest statement

The authors declare that they have no competing interests.

Figures

Fig. 1
Fig. 1
Summary of sequencing results. (A) Numbers of all variants for each gene and percentages of P/LP variants for each gene in the cohort are shown. Impact of age at diagnosis (B, C), blood pressure (D) and arotic diameter (E) on variant category in the whole cohort. Abbreviations: P/LP - pathogenic or likely pathogenic; VUS - variant of uncertain significance; NV/LB – no variant or likely benign
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