Simon Meagher: When the Heart and Brain Tell the Same Story – Fetal Tuberous Sclerosis Complex
Simon Meagher, Medical Director at Monash Ultrasound For Women, shared a post on LinkedIn:
“Post Seville Spain Cardiac Course : ELHM Campaign Continues:
CASE OF THE WEEK – When the Heart and Brain Tell the Same Story
A 29-week gestation patient was referred with multiple intracardiac masses causing both left and right ventricular outflow tract obstruction. Detailed neurosonography demonstrated multiple cerebral cortical tubers.
Together, these findings are highly suggestive of Tuberous Sclerosis Complex — TSC.
The immediate management priority is to separate diagnosis from risk: the combination of cardiac rhabdomyomas and cortical tubers strongly supports TSC, but perinatal urgency is determined by the severity of cardiac outflow obstruction, rhythm disturbance, ventricular function and any evidence of hydrops.
Think TSC until proven otherwise
Multiple fetal cardiac rhabdomyomas, especially when associated with cortical tubers, should immediately raise suspicion for TSC.
Assess physiology, not just anatomy
The key cardiac questions are obstruction, rhythm disturbance, ventricular dysfunction, cardiomegaly, pericardial effusion and hydrops.The brain changes the counselling
Cardiac rhabdomyomas often regress after birth, but cortical tubers imply risk of seizures, infantile spasms, developmental delay and autism spectrum disorder.
Fetal MRI and genetics matter
Fetal MRI can further define cortical tubers, subependymal nodules and radial migration lines. TSC1/TSC2 testing should be discussed, along with parental assessment and recurrence counselling.
Prenatal treatment is possible — but highly selective
Most fetal rhabdomyomas are observed because many regress after birth. However, severe obstruction, hydrops, progressive cardiac failure or refractory arrhythmia may justify expert-centre discussion of maternal sirolimus, an mTOR inhibitor reported to reduce tumour size and improve fetal haemodynamics in selected cases.
Treatment should be framed carefully
Prenatal sirolimus remains off-label, multidisciplinary fetal therapy — best viewed as cardiac rescue, not proven neuroprotection. There is currently no robust evidence that prenatal treatment prevents cortical tubers, epilepsy, infantile spasms or long-term neurodevelopmental impairment.
Plan delivery carefully
These cases require coordinated input from Maternal-Fetal Medicine, Paediatric Cardiology, Paediatric Neurology, Clinical Genetics and Neonatology.
The take-home message:
In suspected fetal TSC, meaningful counselling must integrate the cardiac physiology, brain findings, genetic diagnosis, neonatal seizure risk, and the possibility of targeted prenatal or postnatal therapy in carefully selected cases.”
Proceed to the video attached to the post.
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