Clinical manifestations and genetic characteristics in the Taiwan thoracic aortic aneurysm and dissection cohort - a prospective cohort study

Duan, De‐Min; Chiu, Hsin–Hui; Chen, Pei‐Lung; Yeh, Po-Ting; Yu, Chih‐Wei; Yang, Kai-Chien; Yu, Chih-Chieh

doi:10.1016/j.jfma.2021.08.016

Cited by 6 publications

(9 citation statements)

References 22 publications

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“… Wojciech et al 278 147 Maria Sklodowska-Curie Hospital The study identified independent predictors of surgically derived complications (residual aneurysm and cerebral ischemia) and intraoperative aneurysm rupture. Duan et al 279 107 National Taiwan University Hospital To study the clinical manifestations and genetic characteristics of patients with TAA and dissection in Taiwan. Constance et al 281 415 Aneurysm-Express biobank To investigate the association between variation in genetic susceptibility to aneurysms and clinical phenotypes including aneurysm diameter, artery type, and aneurysm-related symptoms.…”

Section: Clinical Cohort Studymentioning

confidence: 99%

“…Duan et al 279 107 National Taiwan University Hospital To study the clinical manifestations and genetic characteristics of patients with TAA and dissection in Taiwan.…”

Section: University Hospital Of Colognementioning

confidence: 99%

“…Other clinical cohort studies To study the clinical manifestations of the patients with thoracic aortic aneurysm and dissection in Taiwan and genetic features, Duan et al 279 recruited 107 patients, including known aneurysm or dissection in 57 cases, martensite characteristics in 36 cases, members of the family of suspected aortic aneurysm or dissection in 11 cases, 3 cases of ectopic lens, and 73 cases (68.2%) diagnosed as aneurysm or dissection. Clinical manifestations and gene sequencing (NGS) were performed in all patients.…”

Section: University Hospital Of Colognementioning

confidence: 99%

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The mechanism and therapy of aortic aneurysms

Gao

Cao

et al. 2023

Sig Transduct Target Ther

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Aortic aneurysm is a chronic aortic disease affected by many factors. Although it is generally asymptomatic, it poses a significant threat to human life due to a high risk of rupture. Because of its strong concealment, it is difficult to diagnose the disease in the early stage. At present, there are no effective drugs for the treatment of aneurysms. Surgical intervention and endovascular treatment are the only therapies. Although current studies have discovered that inflammatory responses as well as the production and activation of various proteases promote aortic aneurysm, the specific mechanisms remain unclear. Researchers are further exploring the pathogenesis of aneurysms to find new targets for diagnosis and treatment. To better understand aortic aneurysm, this review elaborates on the discovery history of aortic aneurysm, main classification and clinical manifestations, related molecular mechanisms, clinical cohort studies and animal models, with the ultimate goal of providing insights into the treatment of this devastating disease. The underlying problem with aneurysm disease is weakening of the aortic wall, leading to progressive dilation. If not treated in time, the aortic aneurysm eventually ruptures. An aortic aneurysm is a local enlargement of an artery caused by a weakening of the aortic wall. The disease is usually asymptomatic but leads to high mortality due to the risk of artery rupture.

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Section: Clinical Cohort Studymentioning

confidence: 99%

“…Duan et al 279 107 National Taiwan University Hospital To study the clinical manifestations and genetic characteristics of patients with TAA and dissection in Taiwan.…”

Section: University Hospital Of Colognementioning

confidence: 99%

Section: University Hospital Of Colognementioning

confidence: 99%

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The mechanism and therapy of aortic aneurysms

Gao

Cao

et al. 2023

Sig Transduct Target Ther

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“…A clinical study of their participants was carried out by Duan et al To rule out hereditary connective tissue disease, this study specifically included people with marfanoid characteristics or lens ectopy, not just those with TAAD, of which only 68.2% were affected. This could explain higher proportions of striking clinical features [19]. A correlation to the genotype was not recorded.…”

Section: Discussionmentioning

confidence: 90%

“…However, this is compared to studies with designs that were similar to the presented study with their inclusion of non-selected TAAD patients [10,11]. Studies that showed a higher prevalence of pathologic variants were those with designs that only considered TAAD patients under certain inclusion criteria [12][13][14][15][16][17][18][19]. The high prevalence of variants of unclear significance in non-selected TAAD patients denotes that variants of unclear significance might play a larger role than is currently known.…”

Section: Discussionmentioning

confidence: 98%

Prevalence of Genetic Variants and Deep Phenotyping in Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single-Centre Cohort Study

Mahlmann,

Elzanaty,

Saleh

et al. 2024

JCM

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Background: There is a paucity of evidence on people with thoracic aortic aneurysm and dissection. We aimed to determine the prevalence of genetic variants and their associations with phenotypes. Methods: In this cross-sectional single-centre cohort study of consecutive patients who underwent endovascular or open-surgical repair of thoracic aortic aneurysm and dissection, genetic analysis was performed using four-stage Next Generation Sequencing, and findings were confirmed with Sanger sequencing. We collected personal and family history on comorbidities, clinical examination, anthropometrics, skeletal deformities, joint function, and ophthalmological measures. Cardiovascular risk and phenotype scores were calculated. Results: Ninety-five patients were eligible (mean age 54 ± 9 years, 70% males, 56% aortic dissection). One-fifth had a family history of aortic disease. Furthermore, 95% and 54% had a phenotype score of ≤5 and ≤2, respectively. There were no significant differences in the distribution of phenotype characteristics according to age, sex, aortic pathology, or performed invasive procedures. Genetic variants of uncertain significance were detected in 40% of patients, with classic mutations comprising 18% of all variants. We observed no significant association with cardiovascular and phenotype scores but with higher joint function scores (p = 0.015). Conclusion: Genetic variants are highly present in clinically relevant aortic pathologies. Variants appear to play a larger role than previously described. The different variants do not correlate with specific phenotypes, age, pathology, sex, or family history.

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