Everolimus for Cardiac Rhabdomyomas in Neonate with Tuberous Sclerosis Complex and Significant Arrhythmias

Abstract

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the TSC1 or TSC2 genes, characterized by benign tumors in multiple organs, including the heart. Cardiac rhabdomyomas are the most frequent neonatal primary cardiac tumors in TSC, often resolving spontaneously but sometimes necessitating intervention due to arrhythmias or flow obstruction.

This case report describes a term male neonate with TSC alternating between baseline bradycardia and supraventricular tachycardia (SVT) episodes. Imaging revealed multiple cardiac rhabdomyomas and cortical tuberomas, confirming the TSC diagnosis with a TSC2 gene mutation. Initial anti-arrhythmic therapy titration was not possible due to baseline bradycardia and failed to control SVT. Everolimus, an mTOR inhibitor, was introduced, leading to complete regression of cardiac rhabdomyomas and stabilization of baseline heart rate, which allowed adjustment of anti-arrhythmic therapy and heart rate control. The patient, now 12 months old, is clinically stable, off anti-arrhythmic drugs, and continues preventive anti-epileptic therapy and Everolimus with no significant adverse effects.

This case underscores the potential efficacy and safety of Everolimus in treating TSC-associated cardiac rhabdomyomas, advocating for further research to refine therapeutic strategies for TSC's cardiac manifestations.