Everolimus treatment in a 3-month-old infant with tuberous sclerosis complex cardiac rhabdomyoma, severe left ventricular outflow tract obstruction, and hearing loss


Çetin M. , Aydin A. A. , Karaman K.

CARDIOLOGY IN THE YOUNG, vol.31, no.8, pp.1359-1362, 2021 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 31 Issue: 8
  • Publication Date: 2021
  • Doi Number: 10.1017/s1047951121000639
  • Title of Journal : CARDIOLOGY IN THE YOUNG
  • Page Numbers: pp.1359-1362
  • Keywords: Cardiac rhabdomyoma, Everolimus, hearing loss, tuberous sclerosis, Wolff-Parkinson-White syndrome, REGRESSION

Abstract

Tuberous sclerosis complex is a rare multisystem genetic disorder characterised by the growth of numerous tumour-like malformations in many parts of the body including skin, kidneys, brain, lung, eyes, liver, and heart. Mutations in the TSC1 or TSC2 genes have been reported to cause disruption in the TSC1-TSC2 intracellular protein complex, causing over-activation of the mammalian target of rapamycin protein complex. In this study, we present a 3-month-old male infant diagnosed with tuberous sclerosis, bilateral neurosensorial hearing loss, Wolff-Parkinson-White syndrome on electrocardiography, multiple cardiac rhabdomyomas with severe stenosis in the left ventricular outflow tract, who responded well to the Everolimus therapy.