马凡氏综合征合并法洛四联症的成年女性支气管扩张:一个未知的表现

P. Singla, A. Agrawal, Sunaina Kharb, Kamaljeet Singh
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引用次数: 0

摘要

马凡氏综合征是一种常染色体显性遗传病,与纤维蛋白基因1型突变有关,主要累及心血管、眼部、骨骼和肺系统。22岁女性患者,表现为咳嗽、痰带血、发热4个月。患者身材高大,骨骼检查,上颚高弓,臂跨大于身高,手指指征阳性,蛛网膜畸形,胸部不对称,皮肤有条纹。有马凡氏综合征家族史。超声心动图显示大室间隔缺损,主动脉覆盖和严重的肺动脉狭窄。胸部ct显示支气管扩张改变。马凡氏综合征合并心血管异常通常有主动脉扩张、主动脉反流、主动脉动脉瘤、二尖瓣脱垂、二尖瓣反流等。在本例中,患者患有马凡氏综合征伴法洛四联症(TPF)和支气管扩张。TOF与马凡氏综合征的关联是最罕见的发现之一。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Marfan’s syndrome with tetralogy of fallot in an adult female with bronchiectasis: An unacquainted manifestation
Marfan’s syndrome is an autosomal dominant genetic disorder related to a mutation in fibrillin gene type 1 involving mainly the cardiovascular, ocular, skeletal, and pulmonary systems. A 22-year-old female patient presented with cough, blood-stained sputum, and fever for 4 months. The patient was tall and on skeletal examination, high arched palate, arm-span longer than height, positive finger thumb sign, arachnodactyly, asymmetrical chest, and skin striae were present. Family history of Marfan’s syndrome was present. Echocardiography showed large ventricular septal defect with aortic override and severe pulmonary stenosis. CECT thorax showed bronchiectasis changes. Marfan’s syndrome with cardiovascular abnormalities usually has aortic dilatation, aortic regurgitation, aortic aneurysm, mitral valve prolapse, mitral regurgitation, etc. In this case, the patient has Marfan’s syndrome with tetralogy of Fallot (TPF) and bronchiectasis. The association of TOF with Marfan’s syndrome is one of the rarest findings.
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