Nakajima H, Goto G, Tanaka N, Ashiya H, Ibukiyama C
Second Department of Internal Medicine, Tokyo Medical College Hospital, Japan.
Jpn Circ J. 1998 Aug;62(8):617-20. doi: 10.1253/jcj.62.617.
This report presents a 54-year-old woman with Goldenhar syndrome featuring an epibulbar dermoid, left microtia and a left preauricular appendage, and synostosis of the vertebrae. Multiple cardiovascular malformations including Wolff-Parkinson-White syndrome, a partial anomalous pulmonary venous connection, patent ductus arteriosus, an anomalous origin of the coronary arteries, and a right-sided descending aorta were revealed by electrocardiography, echocardiography and cardiac catheterization. Goldenhar syndrome is very rare, but the frequency of cardiovascular malformations in this syndrome is 5-58%. It is necessary to perform a careful evaluation of general malformations, especially cardiovascular malformations.
本报告介绍了一名54岁患有Goldenhar综合征的女性，其特征为眼球表层皮样囊肿、左侧小耳畸形和左侧耳前附件，以及椎体融合。心电图、超声心动图和心导管检查显示存在多种心血管畸形，包括 Wolff-Parkinson-White综合征、部分肺静脉异位连接、动脉导管未闭、冠状动脉异常起源和右侧降主动脉。Goldenhar综合征非常罕见，但该综合征中心血管畸形的发生率为5%-58%。有必要对全身畸形，尤其是心血管畸形进行仔细评估。
