Prenatal diagnosis of cerebral lesions and multiple intracardiac rhabdomyomas in a fetus with tuberous sclerosis.

Abstract

Fetal intracardiac tumors are rare. The most frequent fetal intracardiac mass is the rhabdomyoma (58%), with a reported prevalence of up to 0.25% in autopsy series and 0.08% in live-born infants. 1.2 Intracardiac rhabdomyomas may be associated with fetal arrhythmia, predominantly supraventricular and ventricular tachycardia as well as heart block. 3-5 These intracardiac tumors are also related to genetic disorders, especially tuberous sclerosis. About 50% to 80% of patients with tuberous sclerosis also have cardiac rhabdomyomas. 6.7 Although spontaneous prenatal and postnatal regression of intracardiac rhabdomyomas is frequent, the prognosis of affected neonates remains poor, mainly because of arrhythmia and hemodynamic compromise. In the past, fetal tuberous sclerosis was diagnosed mainly by ultrasonographic detection of multiple intracardiac rhabdomyomas. We describe the ultrasonographic detection of suspected cerebral and renal lesions in a case of a fetus with multiple intracardiac rhabdomyomas associated with left ventricular outflow tract obstruction.