title: Deadly proposal: a case of catecholaminergic polymorphic ventricular tachycardia.
abstract: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare adrenergically mediated arrhythmogenic disorder classically induced by exercise or emotional stress and found in structurally normal hearts. It is an important cause of cardiac syncope and sudden death in childhood. Catecholaminergic polymorphic ventricular tachycardia is a genetic cardiac channelopathy with known mutations involving genes affecting intracellular calcium regulation. We present a case of a 14-year-old boy who had cardiopulmonary arrest after an emotionally induced episode of CPVT while attempting to invite a girl to the school dance. Review of his presenting cardiac rhythm, induction of concerning ventricular arrhythmias during an exercise stress test, and genetic testing confirmed the diagnosis of CPVT. He recovered fully and was treated with β-blocker therapy and placement of an implantable cardioverter-defibrillator. In this report, we discuss this rare but important entity, including its molecular foundation, clinical presentation, basics of diagnosis, therapeutic options, and implications of genetic testing for family members. We also compare CPVT to other notable cardiomyopathic and channelopathic causes of sudden death in youth including hypertrophic cardiomyopathy, arrhythmogenic right ventricular dysplasia, long QT syndrome, short QT syndrome, and Brugada syndrome.
authors: Department of Emergency Medicine, Brooke Army Medical Center, San Antonio, TX, USA. jason.heiner1@us.army.mil
authors: Jason D
authors: JD
authors: Heiner
authors: Jeffrey H
authors: JH
authors: Bullard-Berent
authors: Shmuel
authors: S
authors: Inbar
mesh_terms: D000293:Adolescent; D000319:Adrenergic beta-Antagonists / Q000627:therapeutic use; D000328:Adult; D016887:Cardiopulmonary Resuscitation; D002675:Child, Preschool; D003131:Combined Modality Therapy; D047548:Defibrillators; D017147:Defibrillators, Implantable; D004554:Electric Countershock; D005080:Exercise Test; D005192:Family Health; D005260:Female; D005799:Genes, Dominant; D020022:Genetic Predisposition to Disease; D006323:Heart Arrest / Q000209:etiology* / Q000628:therapy; D006579:Heterozygote; D006801:Humans; D007036:Hypothermia, Induced; D008297:Male; D020125:Mutation, Missense; D017354:Point Mutation; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D013315:Stress, Psychological / Q000150:complications / Q000503:physiopathology; D013575:Syncope / Q000209:etiology; D017180:Tachycardia, Ventricular / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000628:therapy; D018879:Ventricular Premature Complexes / Q000209:etiology; D000098850:Polymorphic Catecholaminergic Ventricular Tachycardia
chemical_list: D000319:Adrenergic beta-Antagonists; D019837:Ryanodine Receptor Calcium Release Channel