[CATECHOLAMINERGIC POLYMORPHIC VENTRICULAR TACHYCARDIA - CASE REPORT]

Pediatric sudden death is a devastating problem worsened by the fact that the death may have been preventable. Sudden cardiac death (SCD) defined as unexplained death within 1 hour after the onset of witnessed symptoms or within 24 hours from the moment when the decedent was last seen alive in the absence of symptoms or any obvious non-cardiac causes. Pediatric sudden cardiac arrest can result from a variety of cardiac conditions such as genetic/heritable, trauma, or use of medications/drugs. The sentinel event can be fatal. Fortunately, not all cases are fatal and suspicion may be evoked by symptoms, known family history, or findings on physical examination. Understanding these features and appropriate referral can improve survival. Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a highly malignant inheritable cardiac channelopathy associated with the potentially life-threatening catecholamine-mediated ventricular arrhythmias triggered by stress or exertion. CPVT constitutes a substantial portion of pediatric SCD, therefore recognition and correct management are of vital importance. The past decade and a half has provided exciting new discoveries elucidating the genetic etiology and pathophysiology of CPVT. This knowledge improves our approach to diagnosis and management of the disease. In this article we bring the tragic story of a little girl who died suddenly due to CPVT. We try to summarize our understanding of the genetic etiology, the molecular pathogenesis and the current approach to diagnosis and management of CPVT.