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结节性硬化症病例中,大动脉转位、肺动脉闭锁及多发室间隔缺损合并多发心脏横纹肌瘤。

Transposition of the great arteries, pulmonary atresia, and multiple ventricular septal defects associated with multiple cardiac rhabdomyomas in a case of tuberous sclerosis.

作者信息

Jiang Z Y, Pircova A, Sekarski N, Hack I, Laurini R, Janzer R, Payot M

机构信息

Department of Cardiology, Centre Hospitalier Universitaire Vaudois, 1011 Lausanne, Switzerland.

出版信息

Pediatr Cardiol. 2000 Mar-Apr;21(2):165-9. doi: 10.1007/s002469910029.

DOI:10.1007/s002469910029
PMID:10754091
Abstract

Multiple cardiac rhabdomyomas are frequently associated with tuberous sclerosis. However, very few cardiac malformations have been described with tuberous sclerosis. We report an unusual case of tuberous sclerosis with cerebral and renal lesions associated with dextrotransposition of the great arteries, pulmonary atresia, patent ductus arteriosus, multiple ventricular septal defects, and parachute mitral valve deformity. After reviewing other cases of congenital heart diseases associated with tuberous sclerosis, emphasis is made on the potential influence of multiple rhabdomyomas developing very early during fetal life on final cardiac structures.

摘要

多发性心脏横纹肌瘤常与结节性硬化症相关。然而,很少有关于结节性硬化症伴发心脏畸形的描述。我们报告了一例罕见的结节性硬化症病例,伴有脑和肾损害,并伴有大动脉右旋位、肺动脉闭锁、动脉导管未闭、多个室间隔缺损和降落伞样二尖瓣畸形。在回顾了其他与结节性硬化症相关的先天性心脏病病例后,强调了胎儿期极早期出现的多发性横纹肌瘤对最终心脏结构的潜在影响。

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