ArticleGenetics in medicine : official journal of the American College of Medical Genetics2018
Targeted genetic analysis in a large cohort of familial and sporadic cases of aneurysm or dissection of the thoracic aorta.
Article in Genetics in medicine : official journal of the American College of Medical Genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 33 papers.
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Who cites it
33 citing papers in PubMed, 72 citations in OpenAlex.
- Evaluating the Feasibility of Screening Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Diseases: The REST Study.Journal of the American Heart Association · 2022Trial
- Potential association of genetic variants with thoracic aortic aneurysm and dissection: Evidence from a Japanese community-based cohort.General thoracic and cardiovascular surgery · 2026Article
- Interdisciplinary vascular genetics evaluations in routine clinical care: insights from a five-year single-center experience.Langenbeck's archives of surgery · 2026Article
- MYH11 variants in thoracic aortic aneurysm pathophysiology: From bench to bedside.European journal of clinical investigation · 2026Review
- A de novo FBN1 variant likely causes congenital bilateral ectopia lentis in a crossbred horse.Scientific reports · 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
- Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine.Diseases (Basel, Switzerland) · 2024Review
- 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
- Prevalence and Influence of Genetic Variants on Follow-Up Results in Patients Surviving Thoracic Aortic Therapy.Journal of clinical medicine · 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
- ACase reports in genetics · 2024Article
- A population-based survey of FBN1 variants in Iceland reveals underdiagnosis of Marfan syndrome.European journal of human genetics : EJHG · 2024Article
- Analysis of the genetic contribution to thoracic aortic aneurysm or dissection in a prospective cohort of patients with familial and sporadic cases in East China.Orphanet journal of rare diseases · 2023Article
- Thoracic aneurysm and dissection gene variants increase the risk of aortic-related adverse events in early-onset isolated Stanford type B aortic dissection after endovascular aortic repair.Journal of thoracic disease · 2023Article
- Existing and Emerging Approaches to Risk Assessment in Patients with Ascending Thoracic Aortic Dilatation.Journal of imaging · 2022Review
- Integration of multiple imaging platforms to uncover cardiovascular defects in adult zebrafish.Cardiovascular research · 2022Article
- Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection.Diagnostics (Basel, Switzerland) · 2022Review
- Aortic gene dictionary in the precision medicine era-update from the Aortic Institute at Yale New Haven.Indian journal of thoracic and cardiovascular surgery · 2022Article
- Transforming Growth Factor-β and the Renin-Angiotensin System in Syndromic Thoracic Aortic Aneurysms: Implications for Treatment.Cardiovascular drugs and therapy · 2021Review
Corrections and comments
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Authors and funding
16 authors at 5 institutions in 2 countries.
Funding
Abstract
purposeThoracic aortic aneurysm/aortic dissection (TAAD) is a disorder with highly variable age of onset and phenotype. We sought to determine the prevalence of pathogenic variants in TAAD-associated genes in a mixed cohort of sporadic and familial TAAD patients and identify relevant genotype-phenotype relationships.
methodsWe used a targeted polymerase chain reaction and next-generation sequencing-based panel for genetic analysis of 15 TAAD-associated genes in 1,025 unrelated TAAD cases.
resultsWe identified 49 pathogenic or likely pathogenic (P/LP) variants in 47 cases (4.9% of those successfully sequenced). Almost half of the variants were in nonsyndromic cases with no known family history of aortic disease. Twenty-five variants were within FBN1 and two patients were found to harbor two P/LP variants. Presence of a related syndrome, younger age at presentation, family history of aortic disease, and involvement of the ascending aorta increased the risk of carrying a P/LP variant.
conclusionGiven the poor prognosis of TAAD that is undiagnosed prior to acute rupture or dissection, genetic analysis of both familial and sporadic cases of TAAD will lead to new diagnoses, more informed management, and possibly reduced mortality through earlier, preclinical diagnosis in genetically determined cases and their family members.
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