Mądry Wojciech, Karolczak Maciej A, Zacharska-Kokot Ewa
Department of Pediatric Cardiothoracic Surgery, Medical University of Warsaw, Warsaw, Poland.
J Ultrason. 2017 Dec;17(71):289-293. doi: 10.15557/JoU.2017.0042. Epub 2017 Dec 29.
We present a case of double-chambered right ventricle diagnosed during preparation for colonoscopy due to gastrointestinal bleeding in a 16-year-old, mentally disabled boy with Williams syndrome. The patient was previously diagnosed with ventricular septal defect and mild pulmonary stenosis. Echocardiography performed under general anesthesia revealed hypertrophied muscular bundles in the right ventricle with the maximum gradient of 100 mmHg, causing severe outflow obstruction. This type of defect is extremely rare in patients with Williams syndrome, with only one case, which was diagnosed during invasive angiocardiography, described in world literature. A successful total surgical correction was performed based on echocardiography data.
我们报告一例16岁患有威廉姆斯综合征的智障男孩,因胃肠道出血在准备结肠镜检查期间被诊断出双腔右心室。该患者先前被诊断出患有室间隔缺损和轻度肺动脉狭窄。全身麻醉下进行的超声心动图显示右心室肌束肥厚,最大压差为100 mmHg,导致严重的流出道梗阻。这种类型的缺陷在威廉姆斯综合征患者中极为罕见,世界文献中仅描述了一例在侵入性心血管造影术中被诊断出的病例。基于超声心动图数据进行了成功的完全手术矫正。