Catecholaminergic Polymorphic Ventricular Tachycardia Due to Ryanodine Receptor (RYR2) Gene Mutation Presenting as Recurrent Apparent Life-Threatening Event Followed by Sudden Death

摘要

While the majority of infants with an apparent life-threatening event (ALTE) recover uneventfully, some may have underlying causes that place them at increased risk for recurrent events and sudden death.1 Recurrent ALTEs warrant deeper evaluation with high suspicion for cardiac arrhythmias. We present a two month old infant with recurrent ALTE followed by sudden cardiac death that had essentially normal evaluation i n c l u d i n g e l e c t r o c a r d i o g r a m d u r i n g admission for an ALTE, but postmortem genetic testing showed a rare pathogenic mutation in the RYR2 gene leading to a retrospective diagnosis of catecholaminergic polymorphic ventricular tachycardia (CPVT). To our knowledge, this is the first case of CPVT presenting as recurrent ALTEs at this young age.