Inherited arrhythmia syndromes remain an important and increasingly recognized cause of ventricular tachycar dia (VT) and sudden cardiac death. Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but potentially lethal, heritable cardiac arrhythmia that occurs in response to physical or emotional stress, it often manifests as exercise-induced ventricular arrhythmias, syncope, or sudden death. If untreated, catecholaminergic polymorphic ventricular tachycardia is a highly lethal condition: About 80% of affected individuals experience recurrent syncope, and 30% experience cardiac arrest. CPVT is caused by mutations in genes encoding proteins involved in calcium handling in cardiomyocytes, such as the cardiac ryanodine receptor (RyR2). RyR2 mutations impair the regulation of calcium release from the sarcoplasmic reticulum, leading to delayed afterdepolarizations and triggered arrhythmias. Here, we report a case of CPVT in a patient with RyR2 gene mutation, causing sudden cardiac arrest.
Keywords: Novel gene mutation; Ryanodine receptor type 2 (RyR2); Cardiac arrest; Catecholaminergic polymorphic ventricular tachycardia.