Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome
Publication date
2024-10
Authors
van Weelden, Wenneke
Bleeker, Fonnet E
van Stijn, Diana
Micha, Dimitra
Maugeri, Alessandra
Kuijpers, Taco W
Koch, Arjun D
Aalfs, Cora M
Wagner, Anja
Groenink, Maarten
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Advisors
Supervisors
Document Type
Article
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Abstract
Germline SMAD4 pathogenic variants (PVs) cause juvenile polyposis syndrome (JPS), which is known for an increased risk of gastrointestinal juvenile polyps and gastrointestinal cancer. Many patients with SMAD4 PV also show signs of hereditary hemorrhagic telangiectasia (HHT) and some patients have aneurysms and dissections of the thoracic aorta. Here we describe two patients with a germline SMAD4 PV and a remarkable clinical presentation including multiple medium-sized arterial aneurysms. More data are needed to confirm whether the more extensive vascular phenotype and the other described features in our patients are indeed part of a broader JPS spectrum.
Keywords
aneurysm, connective tissue disorder, juvenile polyposis syndrome, Kawasaki, SMAD4, Genetics(clinical), Genetics, Case Reports
Citation
van Weelden, W, Bleeker, F E, van Stijn, D, Micha, D, Maugeri, A, Kuijpers, T W, Koch, A D, Aalfs, C M, Wagner, A, Groenink, M, van Oldenrijk, J, Baars, M J & Duijkers, F A M 2024, 'Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome', American Journal of Medical Genetics. Part A, vol. 194, no. 10, e63605. https://doi.org/10.1002/ajmg.a.63605