[The echocardiographic findings of cardiac rhabdomyomas in a female patient with tuberous sclerosis and Down's syndrome].
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.
Rubino
V E
VE
Servizio di Cardiologia, IRCCS OASI per la Ricerca sul Ritardo Mentale, e l'Involuzione Cerebrale, Troina, Enna.
Puzzo
A
A
Schepis
C
C
Russo
L
L
D000328:Adult; D004314:Down Syndrome / Q000000981:diagnostic imaging*; D004452:Echocardiography; D004562:Electrocardiography; D015716:Electrocardiography, Ambulatory; D005260:Female; D006338:Heart Neoplasms / Q000000981:diagnostic imaging*; D006801:Humans; D012207:Rhabdomyoma / Q000000981:diagnostic imaging*; D014402:Tuberous Sclerosis / Q000000981:diagnostic imaging*
Rilievo ecocardiografico di rabdomiomi cardiaci in una paziente con sclerosi tuberosa e sindrome di Down.