Sugawara Masaaki, Oguma Fumiaki, Hirahara Hiroyuki
Department of Cardiovascular Surgery, Japanese Red Cross Nagaoka Hospital, Nagaoka, Japan.
Kyobu Geka. 2016 Aug;69(9):750-4.
Loeys-Dietz syndrome( LDS) is a recently recognized autosomal dominant connective tissue disorder. Mutations in the genes encoding transforming growth factor-beta( TGF-β) receptor 1 and (2 TGFBR1, TGFBR2)have been associated with LDS. We report here 2 cases of LDS in childhood. Case 1 was a 10-year-old man, who had aneurysm of both the pulmonary trunk and the ascending aorta, associated with pulmonary and aortic valve insufficiency. Surgical repair was performed successfully at the age of 17. The aortic valve was replaced with a mechanical valve. The aneurysmal ascending aorta was replaced with a Dacron graft. Pulmonary valvuloplasty and pulmonary arterioplasty was performed. Case 2 was a 3-month-old female infant, who had a patent ductus arteriosus( PDA) and aortic root dilation. A detailed physical examination revealed hypertelorism, bifid uvula, retrognathia, talipes equinovarus, and camptodactyly. Computed tomography and echocardiography demonstrated PDA, Valsalva sinus dilation, and arterial tortuosity. These findings were consistent with the clinical manifestations of LDS. Surgical ligation and clipping of the PDA was performed with good results. A molecular genetic analysis subsequently demonstrated a heterozygous missense mutation of the TGFBR2. Since aortic dissection occurs at smaller aortic diameters, early diagnosis and close monitoring are important for patients with LDS.
洛伊斯-迪茨综合征（LDS）是一种最近才被认识的常染色体显性遗传性结缔组织疾病。编码转化生长因子-β（TGF-β）受体1和2（TGFBR1、TGFBR2）的基因突变与LDS有关。我们在此报告2例儿童LDS病例。病例1为一名10岁男性，患有肺动脉干和升主动脉瘤，伴有肺动脉瓣和主动脉瓣关闭不全。17岁时成功进行了手术修复。用机械瓣膜置换了主动脉瓣。用涤纶人工血管置换了动脉瘤样的升主动脉。进行了肺动脉瓣成形术和肺动脉成形术。病例2为一名3个月大的女婴，患有动脉导管未闭（PDA）和主动脉根部扩张。详细的体格检查发现两眼间距增宽、悬雍垂裂、下颌后缩、马蹄内翻足和手指屈曲挛缩。计算机断层扫描和超声心动图显示有PDA、主动脉窦扩张和动脉迂曲。这些发现与LDS的临床表现一致。对PDA进行了手术结扎和夹闭，效果良好。随后的分子遗传学分析显示TGFBR2存在杂合错义突变。由于主动脉夹层在主动脉直径较小时就会发生，因此早期诊断和密切监测对LDS患者很重要。
