Why the study?
CPVT diagnosis and management can be challenging because patients are often asymptomatic until presenting with sudden cardiac arrest.
This case highlights that CPVT due to RYR2 mutation can present as sudden cardiac arrest in adulthood and may require transition from standard beta-blockers to nadolol and verapamil for adequate arrhythmia suppression.
Answers are grounded in this paper and cite their sources.
Adult CPVT with RYR2 mutation after SCA warrants genetic consideration in unexplained arrests; leaves open optimal adult screening strategies.
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.
No takes yet. Share an insight, caveat, or question.
Vemireddy et al. (2021) studied this question.
Synapse has enriched 10 related papers. Consider them for comparative context: