Application of genetic testing in the diagnosis and individualized treatment of heritable aortic disease
- VernacularTitle:基因检测在遗传性主动脉疾病明确诊断和个体化治疗中的应用价值
- Author:
Tao CHEN
1
,
2
;
Kui HU
1
;
Wang LU
1
,
2
;
Daokang XIANG
1
Author Information
1. Department of Cardiovascular Surgery, Guizhou Provincial People s Hospital, Guiyang, 550002, P. R. China
2. Graduate School, Zunyi Medical University, Zunyi, 563000, Guizhou, P. R. China
- Publication Type:Journal Article
- Keywords:
Heritable aortic disease;
genetic testing;
diagnosis;
treatment;
review
- From:
Chinese Journal of Clinical Thoracic and Cardiovascular Surgery
2025;32(10):1504-1509
- CountryChina
- Language:Chinese
-
Abstract:
Heritable aortic disease (HAD) is characterized by thoracic aortic aneurysm/dissection with strong genetic predisposition and high clinical phenotypic heterogeneity. HAD is one of the main causes of sudden death. Early diagnosis of this disease is difficult because of atypical clinical symptoms, leading to the deterioration of disease with the development of aortic aneurysm, aortic dissection or sudden death. Genetic testing plays an important role in the early diagnosis, standardized follow-up, screening of family members, genetic counseling and individualized treatment of HAD. This review focused on the application of genetic testing in the standardized diagnosis and treatment of HAD.
