ArticleGenetics in medicine : official journal of the American College of Medical Genetics2019
Genetic diversity and pathogenic variants as possible predictors of severity in a French sample of nonsyndromic heritable thoracic aortic aneurysms and dissections (nshTAAD).
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT04751058 (Genetic Profile in Patients With Aortic Syndrome), which is not on this map. Cited by 33 papers.
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The trial behind it
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.
Genetic Profile in Patients With Aortic Syndrome
Who cites it
33 citing papers in PubMed, 56 citations in OpenAlex.
- A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis.Human genetics · 2020Trial
- Undiagnosed Thoracic Aortic Aneurysms: Prevalence, Risk Factors, Screening Modalities.Deutsches Arzteblatt international · 2026Review
- A large French family with TGFBR2 pathogenic variant: illustration of variability.Orphanet journal of rare diseases · 2025Article
- Massively parallel assay of human splice variants reveals cis-regulatory drivers of disease-associated and cell type-specific splicing regulation.bioRxiv : the preprint server for biology · 2025Article
- Genome-First Approach to Rare and Common Variant Risk of Thoracic Aortic Aneurysm and Dissection.medRxiv : the preprint server for health sciences · 2025Article
- Thoracic aortic aneurysm.Nature reviews. Disease primers · 2025Review
- Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testing.NPJ genomic medicine · 2025Article
- Genetic factors and management strategies in aortic health: a literature review of inherited aortopathy.Annals of medicine and surgery (2012) · 2025Review
- Genetic insights from a Brazilian cohort of aortopathies through targeted next-generation sequencing and FBN1 direct sequencing.Scientific reports · 2024Article
- Management of an elderly patient with nonsyndromicClinical case reports · 2024Article
- Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder.International journal of molecular sciences · 2024Article
- A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.European journal of human genetics : EJHG · 2024Article
- Novel variant alters splicing ofFrontiers in genetics · 2024Article
- Left Main Coronary Artery and Bilateral Mammary Artery Aneurysms in a Patient With Extensive Aortopathy.Texas Heart Institute journal · 2023Article
- Familial Associations of Prevalence and Cause-Specific Mortality for Thoracic Aortic Disease and Bicuspid Aortic Valve in a Large-Population Database.Circulation · 2023Observational
- Smooth Muscle Heterogeneity and Plasticity in Health and Aortic Aneurysmal Disease.International journal of molecular sciences · 2023Review
- [Latest Findings on the Pathogenic Mechanisms of Thoracic Aortic Dissection].Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition · 2023Review
- Early-Onset Aortic Dissection: Characterization of a New Pathogenic Splicing Variation in theHuman mutation · 2023Article
- Preventing Acute Aortic Dissections: The Power of Familial Screening and Risk Assessment.Journal of the American Heart Association · 2022Article
- Current state and future directions of genomic medicine in aortic dissection: A path to prevention and personalized care.Seminars in vascular surgery · 2022Review
Corrections and comments
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Authors and funding
22 authors at 12 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeHeritable thoracic aortic aneurysms and dissections (hTAAD) are life-threatening complications of well-known syndromic diseases or underdiagnosed nonsyndromic heritable forms (nshTAAD). Both have an autosomal dominant transmission and are genetically heterogeneous. Our objective was to describe the relevance of molecular diagnosis in these patients and the contribution of each gene in nshTAAD.
methodsTwo hundred twenty-six consecutive nshTAAD probands, either young (<45 years) sporadic or familial cases were included. A next-generation sequencing capture panel comprising 23 known disease-causing genes was performed.
resultsClass 4 or 5 variants were identified in 18% of the nshTAAD probands, while class 3 variants were found in 10% of them. The yield in familial cases was greater than in sporadic cases. SMAD3 and FBN1 genes were the major disease-causing genes. Unexpectedly, no premature termination codon variant was identified in the FBN1 gene. Furthermore, we report for the first time that aortic dissection or surgery occurred significantly more often and earlier in probands with a class 4 or 5 pathogenic variant.
conclusionThis study indicates that genetic screening using NGS is efficient in young and familial nshTAAD. The presence of a pathogenic variant has a possible predictive value, which needs to be further investigated because it may influence care.
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