Abstract
We report a case of multiple fetal cardiac rhabdomyomas and cortical based echogenic
masses in a primigravida, detected at 27 weeks of gestation. Prenatal genetic testing
revealed a heterozygous 23 base pair deletion of the TSC2 gene. Postnatally, the child presented with seizures and showed multiple bilateral
periventricular and subependymal hamartomas with cortical and subcortical tubers on
magnetic resonance imaging (MRI). Multiple hypomelanotic macules were seen on the
back, chest, and eyelids. Rhabdomyomas are the most common prenatally detected cardiac
tumor. They appear as a homogeneous echogenic mass on ultrasound and usually are asymptomatic.
In 10% of cases, they can cause complications such as outflow tract obstruction, hydrops,
arrhythmia, cardiac failure, and intrauterine death. There is a strong association
between cardiac rhabdomyoma and tuberous sclerosis, which has an autosomal dominant
inheritance pattern and multisystem involvement. Detection of rhabdomyoma should prompt
further evaluation to look for other systemic associations by fetal MRI. Genetic counseling
and prenatal testing are advised to confirm the diagnosis, to improve the management
of other related symptoms, and to plan future pregnancies.
Keywords
cardiac neoplasm - cortical tubers - fetal ultrasound - heart - prenatal diagnosis
- rhabdomyoma - tuberous sclerosis complex
