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

Abstract

etal 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. Case ReportA 34-year-old gravida 3, para 1, aborta 1 woman was referred to our prenatal ultrasonography unit at 29 weeks 6 days of gestation for evaluation of fetal arrhythmia, which was observed during routine fetal heart rate monitoring. There were no abnormalities in the family's history. The woman had had 1 abortion at 12 weeks of gestation and had given birth to 1 healthy, full-term infant. Genetic amniocentesis performed at 16 weeks of gestation showed a normal male karyotype. Ultrasonographic examination revealed a single fetus with development appropriate for gestational age. The amniotic fluid index was slightly increased, at 21.Fetal echocardiography including Doppler sonography and evaluation of the outflow tracts showed at least 12 solid, echogenic masses. The largest of the tumors, with a diameter of 22 mm, was found near the orifice of the tricuspid valve in the right atrium. Three tumors ranging from 4 to 8.6 mm in diameter were situated in the lateral

Prenatal diagnosis of cardiac rhabdomyomas: incidence of associated cerebral lesions of tuberous sclerosis complex

“…Postnatally, four types of specific lesions of TSC are detectable on neuro‐imaging: cortical tubers, subependymal nodules, white matter abnormalities and subependymal astrocytomas27. Cortical tubers and subependymal nodules are the most common lesions described prenatally, with an incidence of about 33–62%6, 28–34. Prenatal diagnosis of cerebral lesions is critical for parental counseling, as the association with CR confirms the diagnosis of TSC and because they may be responsible for neurodevelopmental complications.…”

Case 3: Fetal intracardiac tumour – A feature of a genetic disease?

“…Over 90% of prenatally detected cardiac neoplasms are rhabdomyomas. Prenatal sonographic imaging may serve to detect tumours, and fetal rhabdomyomas are easily diagnosed by ultrasound due to their hyperechogenic appearance 1,2.…”

Case 3: Fetal intracardiac tumour – A feature of a genetic disease?

“…Over 90% of prenatally detected cardiac neoplasms are rhabdomyomas. Prenatal sonographic imaging may serve to detect tumours, and fetal rhabdomyomas are easily diagnosed by ultrasound due to their hyperechogenic appearance [1,2]. Primary cardiac tumours are rare in childhood and are most often benign.…”

“…Fibromas are usually solitary non-encapsulated nodules located in the ventricles. Myxomas develop in intracavitary locations, as a single tumour always situated in the left atrium [1,2].…”