Cardiac rhabdomyomas in tuberous sclerosis - prenatal and neonatal findings

Case contributed by Dr Fabien Ho

Presentation

Standard risk pregnancy for Down syndrome. No significant familial history.

Patient Data

Gender: Female

Multiple bright hyperechoic pseudotumoral images within the myocardium, in the interventricular septum, the right atrium and both ventricles. 

Multiple bright hyperechoic pseudotumoral images within the myocardium, in the interventricular septum, the right atrium and both ventricles. Brain US examination limited at 32 weeks gestation.

Left frontal hypoT2 hyperT1 image contrasting with the surrounding white matter substance (which is physiologically hyperT2 hypoT1 in a non-myelinated brain). No subependymal nodules were seen.

Normal brain biometries, developpmental morphology (midline, migration and gyration).

MRI

Postnatal brain MRI at 1 month

Same as in prenatal MR: frontal left hypoT2 hyperT1 lesion.

Normal myelinization of paracentral gyri as expected.

Case Discussion

This is a case of fetal cardiac rhabdomyomas leading to the early diagnosis of tuberous sclerosis.
At birth, clinical examination revealed a few achromic macules. Genetic investigations revealed a familial condition.

Multiples prenatal cardiac tumors have almost no differential: rhabdomyomas, with typical bright hyperechogenicity. Spontaneous involution is expected after birth. In some cases, they may be temporarily obstructive and hinder cardiac outflow.

In 40-60% of cases in some series, fetal rhabdomyomas predicts tuberous sclerosis. Hence prenatal MR is performed to look for tubers and subependymal nodules. Prenatal tubers display reversed MR signal compared to paediatric and adult tubers in a myelinated brain. 

Tubers and subependymal nodules may appear months or years later, hence, a negative prenatal brain MRI does not rule out tuberous sclerosis. Genetics research for the most common mutation of TSC1 and TSC2 genes do contribute to the prenatal diagnosis for counselling, especially in case of a negative prenatal brain MRI. 

Tuberous sclerosis (OMIM #191100) can be de novo or inherited in a dominant autosomal fashion. However, penetrance and phenotypic expression are variable, and clinical symptoms may be absent in mildly affected individuals. 

Dr F Cuillier and Dr M Balu both significantly contributed to this case.

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Case information

rID: 58999
Published: 16th Mar 2018
Last edited: 20th Aug 2018
Inclusion in quiz mode: Excluded
Institution: CHU de la Reunion

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