Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
Thoracic aortic disease in two patients with juvenile polyposis syndrome and SMAD4 mutations.
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DOI：
10.1002/ajmg.a.35659
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发表时间：
2013-01
影响因子：
2
通讯作者：
Lin, Angela E.
中科院分区：
文献类型：
--
作者：
Teekakirikul, Polakit;Milewicz, Dianna M.;Miller, David T.;Lacro, Ronald V.;Regalado, Ellen S.;Rosales, Ana Maria;Ryan, Daniel P.;Toler, Tomi L.;Lin, Angela E.
关键词：
升主动脉扩张或动脉瘤可发展为急性主动脉夹层（胸主动脉瘤和主动脉夹层，TAAD）。编码TGF-β相关蛋白（TGFBR 1、TGFBR 2、FBN 1和SMAD 3）的基因突变会导致综合征和遗传性TAAD。SMAD 4突变与幼年性息肉病（JPS）和JPS-遗传性出血性毛细血管扩张症（HHT）（称为JPS-HHT）相关。据报告，一个患有JPS-HHT的家族患有主动脉根部扩张和二尖瓣畸形。我们报告了2例SMAD 4突变与胸主动脉疾病相关的JPS-HHT患者。第一个病人，一个11岁的男孩没有马凡氏综合征的特点，有JPS和一个明显的新发SMAD 4突变（c.1340_1367dup28）。超声心动图显示主动脉瓣环和主动脉根轻度扩张，窦管交界处和升主动脉轻度扩张。计算机断层扫描证实主动脉扩张，并显示小的肺动静脉畸形（PAVM）。第二名患者是一名患有结肠息肉病、HHT和马凡氏综合征的34岁女性，具有SMAD 4突变（c.1245_1248delCAGA）。超声心动图显示主动脉根部轻度扩张。她还患有PAVM和肝局灶性结节增生。她的家族史是重要的息肉病，HHT，胸主动脉瘤，夹层和骨骼特征的马凡氏综合征在她的父亲。这两例病例证实了胸主动脉疾病与SMAD 4突变引起的JPS-HHT的相关性。我们建议对SMAD 4突变的患者进行胸主动脉筛查，以防止因夹层而过早死亡。该报告还证实SMAD 4突变易患TAAD。
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 (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 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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