A Rare Case of RYR2 Mutation Causing Sudden Cardiac Arrest Due to Catecholaminergic Polymorphic Ventricular Tachycardia

Abstract

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a complex disorder that can induce lethal ventricular arrhythmias, secondary to activation of the sympathetic nervous system. This disease is often diagnosed in childhood but can also manifest in adulthood (the early 40s). Gene mutations such as CALM1, RYR2 (ryanodine receptor-2), CASQ2, and TRDN have been identified as common causes of CPVT. Those affected can present with episodes of syncope, sudden cardiac arrest, or sudden cardiac death due to either fast polymorphic ventricular tachycardia (VT) or bidirectional VT. Diagnosing and managing CPVT can often be challenging as patients are often asymptomatic and may present after a sudden cardiac arrest. Exercise stress testing and genetic testing play a pivotal role in the workup of CPVT. Avoidance of strenuous activities and pharmacological therapy with beta-blockers are the mainstays of treatment. Here, we report a case of CPVT in a patient with RYR2 gene mutation, causing sudden cardiac arrest.

Clinical Characteristics, Genetic Basis and Healthcare Resource Utilisation and Costs in Patients with Catecholaminergic Polymorphic Ventricular Tachycardia: A Retrospective Cohort Study

“…These corresponded to costs of $13,596, $29,775 per year and $65 per patient-year for A&E admissions, $7,019,711, $1,019,515 per year and $33,341 per patient-year for inpatient stays, and $181,485, $19,060 per year and $706 per patient-year for outpatient clinics (Table 2). At the single patient level, the median (IQR) number of attendances for A&E, inpatient and outpatient settings were 5 (3-7), 7 (5)(6)(7)(8)(9)(10)(11)(12) and 70 , respectively. These corresponded to total costs of $711 (395-1146), $151,754 (37,679-496,022) and $10,583 (6630-14,895), and annualised costs of $66 (40-95), $10,521 (5240-66,887) and $791 (546-1105).…”

Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China: A Systematic Review

“…Amongst different cardiac channelopathies, such as Brugada syndrome (BrS) and long QT syndrome, catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare, but lethal, condition that is less prevalent in Asia with an estimated global prevalence of 1 in 10,000 [ 7 , 8 , 9 ]. It is typically caused by mutations in either the ryanodine receptor 2 (RyR2) gene [ 10 ] or the calsequestrin 2 (CASQ2) gene [ 11 , 12 ], but mutations in other genes such as calmodulin (CALM) have been implicated in recent studies [ 13 , 14 , 15 ]. Patients with CPVT usually present in the first two decades of life, with symptoms of syncope or SCD manifested after physical or emotional distress, resulting in bidirectional VT [ 16 ].…”

Clinical Characteristics, Genetic Findings and Arrhythmic Outcomes of Patients with Catecholaminergic Polymorphic Ventricular Tachycardia from China

“…Of these, catecholaminergic ventricular tachycardia (CPVT) is a less prevalent condition compared to Brugada syndrome (BrS) in Asia [7,8]. It is typically caused by mutations in either the ryanodine receptor 2 (RyR2) [9] or the calsequestrin 2 (CASQ2) [10,11], but mutations in other genes such as calmodulin (CALM) have been implicated [12][13][14]. CPVT is usually precipitated by exercise or distress, which results in bidirectional VT, presenting in the first two decades of life [15].…”