ArticleAmerican journal of medical genetics. Part A2013
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
Article in American journal of medical genetics. Part A, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers.
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Who cites it
30 citing papers in PubMed, 61 citations in OpenAlex.
- SMAD4 rare variants in individuals and families with thoracic aortic aneurysms and dissections.European journal of human genetics : EJHG · 2019Trial
- Review
- Overlap syndrome of hereditary hemorrhagic telangiectasia and juvenile polyposis syndrome: ten years follow-up-case series and review of literature.Familial cancer · 2024Review
- Phenotypic characterisation ofJournal of medical genetics · 2024Observational
- Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.European journal of human genetics : EJHG · 2024Article
- Current understanding of the genetics of thoracic aortic disease.Vessel plus · 2024Article
- SMAD4 variants and its genotype-phenotype correlations to juvenile polyposis syndrome.Hereditary cancer in clinical practice · 2023Review
- Whole genome sequencing and disease pattern in patients with juvenile polyposis syndrome: a nationwide study.Familial cancer · 2023Article
- SMAD4 maintains the fluid shear stress set point to protect against arterial-venous malformations.The Journal of clinical investigation · 2023Article
- Genetics and mechanisms of thoracic aortic disease.Nature reviews. Cardiology · 2023Review
- Hamartomatous polyps: Diagnosis, surveillance, and management.World journal of gastroenterology · 2023Review
- Distinct gastric phenotype in patients with pathogenic variants inEndoscopy international open · 2022Article
- An Unexpected Anemia Hiding a Rare Syndrome With Overlapping Phenotypes.ACG case reports journal · 2022Article
- Association of TGF-β Canonical Signaling-Related Core Genes With Aortic Aneurysms and Aortic Dissections.Frontiers in pharmacology · 2022Review
- Danish guidelines for management of non-APC-associated hereditary polyposis syndromes.Hereditary cancer in clinical practice · 2021Review
- Precision Medicine Approaches to Vascular Disease: JACC Focus Seminar 2/5.Journal of the American College of Cardiology · 2021Review
- Pathogenic mechanisms and the potential of drug therapies for aortic aneurysm.American journal of physiology. Heart and circulatory physiology · 2020Review
- Inflammation in thoracic aortic aneurysms.Herz · 2019Article
- Hereditary Hemorrhagic Telangiectasia with SMAD4 Mutations Is Associated with Fatty Degeneration of the Left Ventricle, Coronary Artery Aneurysm, and Abdominal Aortic Aneurysm.Internal medicine (Tokyo, Japan) · 2019Article
- A functional variant ofAging · 2018Article
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
Dilation or aneurysm of the ascending aorta can progress to acute aortic dissection (Thoracic Aortic Aneurysms and Aortic Dissections, TAAD). Mutations in genes encoding TGF-β-related proteins (TGFBR1, TGFBR2, FBN1, and SMAD3) cause syndromic and inherited TAAD. SMAD4 mutations are associated with juvenile polyposis syndrome (JPS) and a combined JPS-hereditary hemorrhagic telangiectasia (HHT) known as JPS-HHT. A family with JPS-HHT was reported to have aortic root dilation and mitral valve abnormalities. We report on two patients with JPS-HHT with SMAD4 mutations associated with thoracic aortic disease. The first patient, an 11-year-old boy without Marfan syndrome features, had JPS and an apparently de novo SMAD4 mutation (c.1340_1367dup28). Echocardiography showed mild dilation of the aortic annulus and aortic root, and mild dilation of the sinotubular junction and ascending aorta. Computed tomography confirmed aortic dilation and showed small pulmonary arteriovenous malformations (PAVM). The second patient, a 34-year-old woman with colonic polyposis, HHT, and features of Marfan syndrome, had a SMAD4 mutation (c.1245_1248delCAGA). Echocardiography showed mild aortic root dilation. She also had PAVM and hepatic focal nodular hyperplasia. Her family history was significant for polyposis, HHT, thoracic aortic aneurysm, and dissection and skeletal features of Marfan syndrome in her father. These two cases confirm the association of thoracic aortic disease with JPS-HHT resulting from SMAD4 mutations. We propose that the thoracic aorta should be screened in patients with SMAD4 mutations to prevent untimely death from dissection. This report also confirms that SMAD4 mutations predispose to TAAD.
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