ReviewDiagnostics (Basel, Switzerland)2023
The Role of Genetic Testing in Patients with Heritable Thoracic Aortic Diseases.
Review in Diagnostics (Basel, Switzerland), 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers, 1 of them a synthesis that pooled it.
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Who cites it
11 citing papers in PubMed, 1 synthesis or guideline pooled it, 25 citations in OpenAlex.
- Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptions.Orphanet journal of rare diseases · 2023Pooled it
- Structural and Signaling Mechanisms of Aortic Wall Failure in Heritable Thoracic Aortic Disease.Cells · 2026Review
- Total Thrombus-Formation Analysis System (T-TAS) in Aortopathies: A Conceptual and Potential Framework to Spatial Heterogeneity and Regional Context.International journal of molecular sciences · 2026Review
- Clinically Translatable Mutation-Based Biomarkers in Ascending Aortic Aneurysm: A Bibliometric Study.Human mutation · 2026Article
- Exploring patient experiences of pain fatigue and physical activity in syndromic heritable thoracic aortic disease using mixed methods.Scientific reports · 2025Article
- Exploring Disparities in Atherosclerosis Comorbidity with Aortic Aneurysm.Biomedicines · 2025Review
- Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study.Orphanet journal of rare diseases · 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
- CT Angiography for Aortic Arch Anomalies: Prevalence, Diagnostic Efficacy, and Illustrative Findings.Diagnostics (Basel, Switzerland) · 2024Article
- The Role of Immune Mechanisms in Abdominal Aortic Aneurysm: Could It be a Promising Therapeutic Strategy?Acta Cardiologica Sinica · 2023Review
- Thoracic Aorta: Anatomy and Pathology.Diagnostics (Basel, Switzerland) · 2023Review
Corrections and comments
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Authors and funding
20 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Heritable thoracic aortic disease (HTAD) is a term used to define a large group of disorders characterized by the occurrence of aortic events, mainly represented by aneurysm or dissection. These events generally involve the ascending aorta, although the involvement of other districts of the aorta or peripheral vessels may occur. HTAD can be classified as non-syndromic if the disorder is limited to the aorta, and syndromic when associated with extra-aortic features. About 20-25% of patients with non-syndromic HTAD exhibit a family history of aortic disease. Thus, a careful clinical evaluation of the proband and the first-degree family members is required to differentiate familial and sporadic cases. Genetic testing is essential since it allows confirmation of the etiological diagnosis of HTAD (particularly in patients with a significant family history) and may guide family screening. In addition, genetic diagnosis significantly impacts patients' management since the different conditions significantly differ with respect to natural history and treatment strategies. The prognosis in all HTADs is determined by the progressive dilation of the aorta, potentially leading to acute aortic events, such as dissection or rupture. Moreover, the prognosis varies according to the underlying genetic mutations. This review aims to describe the clinical characteristics and natural history of the most common HTADs, with particular emphasis on the role of genetic testing in risk stratification and management.
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Registered trials
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