LAUSR

The decision to implant an implantable cardioverter-defibrillator in patients with CPVT is challenging, as there are no randomized controlled Introduction Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare familial cardiac arrhythmia that results in bidirectional and polymorphic ventricular dysrhythmias often leading to sudden cardiac death. These events are frequently triggered by exercise or emotional distress. CPVT typically occurs in patients with structurally normal hearts and often presents during childhood, with a mean age of presentation of 10 years. CPVT can be inherited in an autosomal dominant (RYR2, KCNJ2, CALM1) or autosomal recessive (CASQ2, TRDN) pattern. The autosomal dominant form is responsible for 60% of cases and is most often due to a mutation in the RYR2 gene, which encodes for the cardiac ryanodine receptor 2. The CASQ2 gene, the most common autosomal recessive form, encodes for the protein calsequestrin-2 and is responsible for 1%–2% of cases of CPVT. We report a novel genetic mutation in the CASQ2 gene identified in a young female subject diagnosed with CPVT. prospective trials to evaluate the effectiveness and appropriateness in this patient population. Consideration for risk of inappropriate device therapies, implantation complications, device failure, and risk of sudden cardiac death needs to be a component of the shared decision-making process. Case report Our patient is a woman in her 30s, of Middle Eastern descent, with a history of hypercholesterolemia and purported epilepsy, who presented to the cardiology clinic for evaluation of recurrent syncope. She was diagnosed with epilepsy at a young age in her native country and was started on carbamazepine. She had been on carbamazepine for several years but continued to have syncopal