Prolonged QT Syndrome in Newborn Diagnostic Dilemma

Abstract

Introduction: Long QT syndrome type 3 (LQT3) is caused by gain-of-function mutations in the SCN5A gene, which encodes the cardiac sodium channel Nav1.51. Mutations result in a pathological increase in late sodium current leading to delayed ventricular repolarization, torsade de pointes and sudden death(1). To the best of our knowledge, LQT3 has not been associated with manifestations including metabolic abnormalities during the newborn period. Case Report Patient presented on day seven of life with lethargy, hypotonia, hypothermia, and respiratory distress to his primary pediatrician. He was …