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  • Title: [Cardiac rhabdomyoma in tuberous sclerosis. A report of five cases and review of the literature].
    Author: Bosio M, Vitali GM, Pandolfi M, Pastori P.
    Journal: Minerva Pediatr; 1992 Jun; 44(6):305-11. PubMed ID: 1635532.
    Abstract:
    Five children with tuberous sclerosis (TS), a polysystemic disease, had cardiac tumors detected by B-mode echocardiography. In a fetus, sonography performed at the eighth month showed the presence of a cardiac mass and of polycystic kidneys: the diagnosis of TS was confirmed postnatally because of the presence of calcified cerebral nodules. A newborn dichorial twin had paroxysmal tachycardia at ten days. B-mode echocardiography showed the presence of seven intracardiac tumors, and cerebral CT the presence of multifocal periventricular calcifications. An absence in a nine month old baby prompted an electrocardiogram that proved abnormal; a B-mode echocardiography showed large apical cardiac tumor; again cerebral CT showed periventricular calcified nodules. Two girls, 9 and 10 y.o. respectively, affected by TS, with normal electrocardiograms, both presented a small, asymptomatic, intracardiac mass demonstrated sonographically. In recent years, prenatal sonography and B-mode echocardiography in patients with TS demonstrated with increasing frequency the association of cardiac tumors (rhabdomyomas) with TS. Tumor detection often precedes the appearance of the cutaneous and neurological signs typical of the disease. This paper emphasizes the role of echocardiography in detecting cardiac tumors, as an early sign for the diagnosis of tuberous sclerosis, and to depict the natural history of cardiac rhabdomyoma with its variable clinical presentation and prognosis.
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