Large- and medium-sized arterial aneurysms in two patients with SMAD4-related juvenile polyposis syndrome.

Autor: van Weelden W; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Bleeker FE; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Department of Clinical Genetics, Netherlands Cancer Institute, Amsterdam, the Netherlands., van Stijn D; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Micha D; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Maugeri A; Department of Human Genetics, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, the Netherlands., Kuijpers TW; Department of Pediatric Immunology, Rheumatology and Infectious Disease, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Koch AD; Department of Gastroenterology and Hepatology, Erasmus MC Cancer Institute, University Medical Center, Rotterdam, the Netherlands., Aalfs CM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Department of Clinical Genetics, University Medical Center, Utrecht, Utrecht, the Netherlands., Wagner A; Department of Clinical Genetics, Erasmus MC Cancer Institute, University Medical Center Rotterdam, Rotterdam, the Netherlands., Groenink M; Department of Cardiology, Academic Medical Center, Amsterdam, the Netherlands., van Oldenrijk J; Department of Orthopaedic Surgery and Sport Medicine, Erasmus University Medical Center, Rotterdam, the Netherlands., Baars MJ; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Duijkers FAM; Department of Human Genetics, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 May 16, pp. e63605. Date of Electronic Publication: 2024 May 16.
DOI: 10.1002/ajmg.a.63605
Abstrakt: 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.
(© 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.)
Databáze: MEDLINE
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