Cardiology Service, Department of Paediatric Subspecialties, KK Women's and Children's Hospital, 100 Bukit Timah Road, Singapore.
Singapore Med J. 2009 Oct;50(10):e353-7.
Loeys-Dietz syndrome is a recently-characterised genetic disorder with an autosomal-dominant inheritance due to mutations in the transforming growth factor beta-receptor Type 1 or Type 2 genes. We present a Chinese female neonate with genetically-confirmed Loeys-Dietz syndrome, cleft palate, hypertelorism, and an early dilatation of the aortic root and ascending aorta. This syndrome is associated with an aggressive arteriopathy, with an increased risk of dissection and rupture. Early diagnosis, close monitoring and early surgery may prolong the life in affected individuals. Losartan is an emerging therapy that may help slow down the rate of arterial dilatation.
Loeys-Dietz 综合征是一种新近被描述的遗传性疾病，具有常染色体显性遗传特征，其致病原因为转化生长因子β受体 1 型或 2 型基因突变。我们报告了一例经基因确诊的 Loeys-Dietz 综合征中国女性新生儿，其临床表现为腭裂、眼距过宽以及主动脉根部和升主动脉的早期扩张。该综合征与侵袭性血管病变相关，夹层和破裂的风险增加。早期诊断、密切监测和早期手术可能延长患者的生命。氯沙坦是一种新兴的治疗方法，可能有助于减缓动脉扩张的速度。
