Oztürk Erkut, Odemiş Ender, Kıplapınar Neslihan
Department of Pediatric Cardiology, İstanbul Mehmet Akif Ersoy Thoracic and Cardiovascular Surgery Training and Research Hospital, İstanbul, Turkey.
Turk Kardiyol Dern Ars. 2013 Jul;41(5):433-5. doi: 10.5543/tkda.2013.07717.
Trisomy 18, or Edwards syndrome, is the second most common chromosome anomaly after trisomy 21. Various types of congenital heart diseases are seen in the majority of trisomy 18 patients. Palliative treatment of right ventricular outflow tract (RVOT) stenosis includes options like balloon dilatation, stenting and surgery. Herein, we present a case with trisomy 18 and double outlet right ventricle, pulmonary stenosis, and ventricular septal defect. During the follow-up, at the age of three months, his saturation dropped to 70% and an interventional procedure was planned. The patient was considered high risk, and after discussing treatment options with the family, RVOT stenting was chosen. The patient was lost on the 8th day of the follow-up.
18三体综合征,即爱德华兹综合征,是仅次于21三体综合征的第二常见染色体异常疾病。大多数18三体综合征患者患有各种类型的先天性心脏病。右心室流出道(RVOT)狭窄的姑息治疗包括球囊扩张、支架置入和手术等选择。在此,我们报告一例患有18三体综合征、右心室双出口、肺动脉狭窄和室间隔缺损的病例。在随访期间,患儿三个月大时,血氧饱和度降至70%,于是计划进行介入治疗。该患者被认为是高风险患者,在与家属讨论治疗方案后,选择了RVOT支架置入术。患者在随访的第8天失访。