Kawazu Yukiko, Inamura Noboru, Kayatani Futoshi, Okamoto Nobuhiko, Morisaki Hiroko
Department of Pediatric Cardiology, Osaka Medical Center and Research Institute for Maternal and Child Health, Izumi, Osaka, Japan.
Cardiol Young. 2012 Feb;22(1):116-9. doi: 10.1017/S1047951111001028. Epub 2011 Jul 21.
We report an infantile case of Loeys-Dietz syndrome prenatally diagnosed with congenital complex heart disease - double outlet right ventricle and interruption of the aortic arch. The patient also showed prominent dilatation of the main pulmonary artery. Emergency bilateral pulmonary artery banding was performed on the 9th day. However, on the 21st day, the patient died of massive bleeding due to rupture of the right pulmonary artery. Subsequently, a mutation of the TGFBR1 gene was detected. As cardiovascular lesions of Loeys-Dietz syndrome appear early and progress rapidly, the prognosis is generally poor. Patients require periodic examination and early intervention with medical therapy such as Losartan administration and surgical therapy. Early genetic screening is thought to be useful for the prediction of complications as well as vascular disease.
我们报告了一例产前诊断为Loeys-Dietz综合征的婴儿病例，伴有先天性复杂性心脏病——右心室双出口和主动脉弓中断。该患者还表现出主肺动脉明显扩张。在第9天进行了紧急双侧肺动脉环扎术。然而，在第21天，患者因右肺动脉破裂导致大出血死亡。随后，检测到TGFBR1基因发生突变。由于Loeys-Dietz综合征的心血管病变出现早且进展迅速，预后通常较差。患者需要定期检查，并尽早采用如氯沙坦治疗等药物治疗和手术治疗进行干预。早期基因筛查被认为对预测并发症以及血管疾病有用。
