Law K M, Tse K T
Department of Obstetrics and Gynaecology, Queen Elizabeth Hospital, Kowloon, Hong Kong.
Hong Kong Med J. 2008 Aug;14(4):317-20.
We present a rare case of familial Holt-Oram syndrome diagnosed sonographically at 18 weeks of gestation. The foetus had serious bilateral upper limb malformations, a ventricular septal defect and a type B interrupted aortic arch, while the mother had bilateral upper limb malformations only. The pregnancy was terminated. A pathological and radiological examination of the foetus confirmed the prenatal sonographic findings. Although genetic investigation of TBX5 mutations was not available in our locality at the time of diagnosis, the geneticists made a clinical diagnosis of familial Holt-Oram syndrome. The clinical features of our case completely fulfilled the strict diagnostic criteria for the syndrome. The cardiac malformations most commonly associated with Holt-Oram syndrome are atrial or ventricular septal defects. To the best of our knowledge, a prenatal diagnosis of Holt-Oram syndrome in association with a type B interrupted aortic arch has not been reported in the English literature before.
我们报告了一例罕见的家族性霍尔特-奥勒姆综合征病例，在妊娠18周时通过超声检查确诊。胎儿有严重的双侧上肢畸形、室间隔缺损和B型主动脉弓中断，而母亲仅有双侧上肢畸形。此次妊娠终止。对胎儿进行的病理和放射学检查证实了产前超声检查结果。尽管在诊断时我们当地无法进行TBX5基因突变的基因检测，但遗传学家做出了家族性霍尔特-奥勒姆综合征的临床诊断。我们病例的临床特征完全符合该综合征严格的诊断标准。与霍尔特-奥勒姆综合征最常相关的心脏畸形是房间隔或室间隔缺损。据我们所知，英文文献中此前尚未报道过与B型主动脉弓中断相关的霍尔特-奥勒姆综合征的产前诊断。
