ArticleIndian journal of thoracic and cardiovascular surgery2022
Genetic screening in heritable thoracic aortic disease-rationale, potentials and pitfalls.
Article in Indian journal of thoracic and cardiovascular surgery, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 13 citations in OpenAlex.
- Article
- Interdisciplinary vascular genetics evaluations in routine clinical care: insights from a five-year single-center experience.Langenbeck's archives of surgery · 2026Article
- Clinically Translatable Mutation-Based Biomarkers in Ascending Aortic Aneurysm: A Bibliometric Study.Human mutation · 2026Article
- Disease burden of aortic aneurysm from 1990 to 2021 with a forecast to 2045: insights from the global burden of disease 2021.BMC public health · 2025Article
- Identification of Genetic Variants Associated with Hereditary Thoracic Aortic Diseases (HTADs) Using Next Generation Sequencing (NGS) Technology and Genotype-Phenotype Correlations.International journal of molecular sciences · 2024Article
- Practice Patterns and Barriers to Vascular Genetic Testing Among Vascular Surgeons.Annals of vascular surgery · 2024Article
- Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.Journal of the American Heart Association · 2024Article
- Review
- Cellular, Molecular and Clinical Aspects of Aortic Aneurysm-Vascular Physiology and Pathophysiology.Cells · 2024Review
- Prevalence of Genetic Variants and Deep Phenotyping in Patients with Thoracic Aortic Aneurysm and Dissection: A Cross-Sectional Single-Centre Cohort Study.Journal of clinical medicine · 2024Article
Corrections and comments
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Authors and funding
3 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Thoracic aortic aneurysms are silent yet deadly clinical entities which may elude detection until an acutely life-threatening aortic dissection or rupture occurs. Approximately 20% of patients with thoracic aortic aneurysms or dissection have a positive family history, indicating a strong genetic component to the aetiology. Genetic screening in such hereditary thoracic aortic disease (HTAD) may thus be beneficial in detecting causative genetic mutations in affected patients, identifying asymptomatic family members who may be at risk, and in guiding the optimal timing of preventative surgery in those with confirmed genetic aortopathy. Genetic screening can facilitate personalised aortic care tailored to an individual's specific genetic abnormality, with the aim of mitigating the significant morbidity burden and premature mortality associated with HTAD. This review examines the rationale for genetic screening in HTAD, its potential applications, current limitations and potential future directions.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.