Ghazal Sami Nimer, Ouf Shady G
Cardiology Division, Internal Medicine Department, King Fahd Hospital of the University, University of Dammam, P.O. Box 2208, Al-Khobar 31952, Saudi Arabia.
Glob Cardiol Sci Pract. 2016 Feb 2;2015(5):50. doi: 10.5339/gcsp.2015.50. eCollection 2015.
Marfan syndrome is a genetic disease with variable clinical presentation. This case describes a 36-year-old lady who was diagnosed with Marfan syndrome based on revised Ghent criteria. She was found to have bicuspid aortic valve and sensorineural hearing loss. Inferior vena cava stenosis was suspected on echocardiography due to high velocity flow and visualization of a focal narrowing in the inferior vena cava proximal to hepatic vein entry. Inferior vena cava stenosis was confirmed by computed tomography. Echocardiographic features suggestive of inferior vena cava stenosis include detection of a focal narrowing and high turbulent flow, peak velocity > 1.5 m/s and S/D wave fusion on spectral Doppler.
马凡综合征是一种临床表现多样的遗传性疾病。本病例描述了一位36岁女性,根据修订的根特标准被诊断为马凡综合征。她被发现患有二叶式主动脉瓣和感音神经性听力损失。由于下腔静脉高速血流以及肝静脉入口近端下腔静脉局灶性狭窄的可视化,超声心动图怀疑存在下腔静脉狭窄。计算机断层扫描证实了下腔静脉狭窄。提示下腔静脉狭窄的超声心动图特征包括检测到局灶性狭窄和高湍流、峰值速度>1.5米/秒以及频谱多普勒上的S/D波融合。