학술논문
Double-chambered right ventricle in a 16-year-old patient with Williams syndrome
Case report
Case report
Document Type
Case study
Source
Journal of Ultrasonography. December 2017, Vol. 17 Issue 71, p289, 5 p.
Subject
Language
English
ISSN
2084-8404
Abstract
Introduction Williams syndrome (WS) is a genetic disorder caused by submicroscopic deletion in the q11.23 region of chromosome 7. It is characterized by dysmorphy ('elfin face'), mental disability and cardiovascular [...]
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. Keywords Williams syndrome, double-chambered right ventricle, echocardiography
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. Keywords Williams syndrome, double-chambered right ventricle, echocardiography