A ryanodine receptor 2 gene variant associated with left ventricular non-compaction, cardiac conduction disease, ventricular arrhythmias, and sudden cardiac death

Abstract A case of a 3-year-old asymptomatic male patient, who previously lost two brothers and was found to have a homozygote ryanodine receptor 2 gene mutation, is presented. The patient’s initial electrocardiogram showed right bundle branch block, first-degree AV block, and left anterior hemiblock (trifascicular block), and echocardiographic examination revealed increased trabeculation in the left ventricle. Since the patient’s mother and father were consanguineous, a homozygous missense mutation was detected in the ryanodine receptor type 2 gene within the scope of clinical exome sequencing in the genetic test performed. Considering the family history, a dual-chamber epicardial implantable cardioverter-defibrillator implantation was performed. This case highlights the treatment process of a patient with a significant family history and a ryanodine receptor type 2 gene mutation, commonly associated with catecholaminergic polymorphic ventricular tachycardia, aiming to raise awareness of the disease.