Rubino V E, Puzzo A, Schepis C, Russo L
Servizio di Cardiologia, IRCCS OASI per la Ricerca sul Ritardo Mentale, e l'Involuzione Cerebrale, Troina, Enna.
Minerva Cardioangiol. 1992 Jul-Aug;40(7-8):289-92.
This report described the case of a patient with cardiac rhabdomyomas and tuberous sclerosis (TS), associated with Down's syndrome. Diagnosis of TS was made subsequently to sebaceus adenomas, peri-ungual fibromas and ash leaf macules, mental retardation, epilepsy, renal and cerebral calcification findings. Physical examination, ECG and Holter ECG monitoring revealed normal cardiac findings. Two dimensional echocardiography disclosed the presence of two areas of increased acoustic density; one of which was at the level of postero-medial papillar muscle and the second appeared to be adherent to ventricular septum. Left ventricular size, function and intracavitary blood flow were normal.
本报告描述了一例患有心脏横纹肌瘤和结节性硬化症(TS)且伴有唐氏综合征的患者。TS的诊断是在出现皮脂腺腺瘤、甲周纤维瘤、色素脱失斑、智力发育迟缓、癫痫、肾和脑钙化等表现之后做出的。体格检查、心电图和动态心电图监测显示心脏检查结果正常。二维超声心动图显示有两个声学密度增加的区域;其中一个位于后内侧乳头肌水平,另一个似乎附着于室间隔。左心室大小、功能和心腔内血流均正常。