Fetal Tuberous Sclerosis (Rhabdomyomas + Brain Nodules)

Step-by-step decision

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Full pathway

1. [Decision] Rhabdomyoma + brain nodules/SEN + genetics
   Cardiac rhabdomyoma + brain nodules/SEN (fetal MRI) + genetics? (Cardiac rhabdomyoma = the most common fetal cardiac tumor (echogenic myocardial nodules, single/multiple; multiple strongly suggests TSC), mostly regress postnatally. Brain (fetal MRI, especially third trimester): subependymal nodules (SEN, caudothalamic groove/ventricular wall), cortical/subcortical tubers (focal gyral thickening, mixed T2), white-matter signal abnormality, SEGA (near the foramen of Monro). TSC1/TSC2 (mTOR), autosomal dominant, ~2/3 de novo.)
   • Solitary rhabdomyoma, no nodules on brain MRI, no family history → Solitary tumor · still needs full workup
   • Multiple rhabdomyomas and/or brain SEN/tuber, or family history → Multiple/brain nodules → strongly suggest TSC
   • Large rhabdomyoma causing outflow obstruction/arrhythmia/pericardial effusion/hydrops → Large tumor causing hemodynamic compromise
2. [End] Solitary tumor · still needs full workup
   Solitary rhabdomyoma, no brain nodules on fetal MRI, no family history: still complete fetal brain MRI (recheck in the third trimester, SEN/tuber appear late) + echocardiography monitoring + recommend TSC1/TSC2 testing and genetic counselling (solitary does not exclude TSC); most rhabdomyomas regress postnatally, echocardiographic follow-up.
3. [End] Multiple/brain nodules → strongly suggest TSC
   Multiple rhabdomyomas and/or brain SEN/tuber or family history = strongly suggest TSC: fetal MRI to document SEN/cortical tubers + echocardiography + kidneys (AML/cysts) + TSC1/TSC2 testing (amniotic fluid) + genetic counselling; postnatal neurology follow-up (infantile spasms → vigabatrin), consider mTOR inhibitor (sirolimus) for large tumors.
4. [End] Large tumor causing hemodynamic compromise
   Large rhabdomyoma causing outflow obstruction/arrhythmia/pericardial effusion/hydrops: critical; close echocardiographic monitoring of hemodynamics; severe cases consider prenatal maternal sirolimus to shrink the tumor (case reports)/plan delivery at a capable center; also assess brain/kidneys/genetics as for TSC.

Source guidelines & references

• Fetal tuberous sclerosis prenatal diagnosis (cardiac rhabdomyoma + brain SEN/tuber; TSC1/TSC2)

This pathway is our own synthesis of the decision logic in the guidelines above (not the guideline verbatim); thresholds and workflows change as guidelines update — in practice follow the latest guideline, your institution's protocol and the individual patient.

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