Arroyave Jose, Carretero Juan Manuel, Gruosso Domenico
1Cardiology Department,Hospital Sant Joan de Déu-Clínic,University of Barcelona,Barcelona,Spain.
2Cardiology Department,Hospital Vall d'Hebron,Barcelona,Spain.
Cardiol Young. 2018 May;28(5):765-767. doi: 10.1017/S1047951118000082. Epub 2018 Feb 15.
Aneurysm-osteoarthritis syndrome is a recently discovered inherited autosomal dominant connective tissue disease caused by SMAD3 mutations. Aneurysm-osteoarthritis syndrome is responsible for 2% of familial thoracic aortic aneurysms and dissections and is characterised by aneurysms, dissections, and tortuosity throughout the arterial tree in combination with osteoarthritis. Early-onset osteoarthritis is present in almost all patients. We present the case of a non-syndromic young boy with SMAD3 mutation isolated from the dilated aortic root and ascending aorta without osteoarthritis.
动脉瘤-骨关节炎综合征是一种最近发现的由SMAD3基因突变引起的常染色体显性遗传性结缔组织病。动脉瘤-骨关节炎综合征导致2%的家族性胸主动脉瘤和夹层形成，其特征为整个动脉树出现动脉瘤、夹层和迂曲，并伴有骨关节炎。几乎所有患者都有早发性骨关节炎。我们报告了一例非综合征型小男孩的病例，该男孩存在SMAD3基因突变，仅表现为主动脉根部和升主动脉扩张，无骨关节炎。
