Cardiol Young. 2025 Nov 5:1-5. doi: 10.1017/S1047951125110202. Online ahead of print.
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.
PMID:41190464 | DOI:10.1017/S1047951125110202
