Ageliki A. Karatza1,2, Asimina Tsintoni1, Sotirios Fouzas1, Despoina
Gkentzi1, Eirini Kostopoulou1, Xenophon Sinopidis1, Nikolaos Antonakopoulos3,
John Papagiannis2
1Department of Paediatric Cardiology, University of Patras
Medical School, Greece
2Department of Paediatrics and Adult Congenital Heart
Disease, “Onassis” Cardiothoracic Centre, Athens, Greece
3Department of Obstetrics and Gynaecology, Division of
Maternofetal Medicine, University of Patras Medical School, Greece
*For Correspondence
agelikikaratza@hotmail.com
karatza@upatras.gr
Introduction: Tuberous sclerosis
complex (TSC) is a rare autosomal dominant syndrome that presents with complex
clinical features and involves multiple human systems. Many manifestations can
be associated with severe morbidity and mortality, usually those of the central
nervous and cardiovascular system.
Cardiovascular manifestations of
TSC: Cardiac rhabdomyoma is often the earliest manifestation TSC, typically
appearing during the prenatal period with an incidence between 70% and 90%.
Although most are clinically silent, they can lead to serious and potentially
life-threatening cardiovascular complications. In the past resolution of
rhabdomyomas was considered the natural course of the disease. It has recently
been documented re-appearance of the rhabdomyomas in 12-15% of adolescent
patients, an issue that increases the risk for future arrhythmias. TSC is a
complex arrhythmic disorder associated with conductive effects irrespective of
the presence of rhabdomyomas, which requires meticulous cardiac follow-up
throughout the patient’s life. ECG findings include premature atrial
contractions, paroxysmal supraventricular tachycardia, Wolff-Parkinson-White
syndrome, sinoatrial nodal re-entrant tachycardia, atrial flutter, junctional
rhythm, premature ventricular contractions, ventricular tachycardia and atrial
tachycardia. Arterial aneurysms are another complication of TSC with an
incidence which is double compared to the general population and can involve
aorta, carotid, axillary, renal, iliac, femoral and pulmonary arteries.
mTOR inhibitor treatment of
cardiac complications of TSC: The increasing understanding of the mTOR pathway
activation in the pathophysiology of TSC has resulted in a progressive rise in
the use of mTOR inhibitors for the management of patients with TSC, including
those with rhabdomyomas and refractory arrhythmias.
Case presentation: A fetus with
suspected tuberous sclerosis complex presenting with fetal arrhythmias in the
absence of rhabdomyomas and various patterns of neonatal and infant arrhythmias
treated with Everolimus persisting despite regression of rhabdomyomas.
Keywords
Tuberous Sclerosis Complex, Cardiac Rhabdomyomas, m-TOR inhibitors, Everolimus, Sirolimus, Fetal/Neonatal arrhythmias
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