Tuberous sclerosis presenting as neonatal cyanosis because of rhabdomyoma causing tricuspid valve obstruction needing a Blalock-Taussig shunt

Abstract

We report a newborn female baby who presented at 6 hours of age with cyanosis without any signs of respiratory distress. Cardiovascular and systemic examination was unremarkable apart from cyanosis (saturation 75%). An echocardiogram showed multiple echogenic and homogeneous masses in the interventricular septum, one of which was big and protruding through the tricuspid valve causing right ventricular inflow obstruction. There was a small atrial septal defect (ASD) shunting right to left and patent ductus arteriosus (PDA) shunting left to right. The provisional diagnosis was rhabdomyoma. Blalock-Taussig shunt was done to preserve the tricuspid valve, because these masses tend to regress spontaneously, which was the case after few months. Subsequently, the patient was diagnosed with tuberous sclerosis.