A ryanodine receptor 2 gene variant associated with left ventricular non-compaction, cardiac conduction disease, ventricular arrhythmias, and sudden cardiac death
Cardiology in the Young, cilt.35, sa.11, ss.2339-2343, 2025 (SCI-Expanded, Scopus)
- Yayın Türü: Makale / Tam Makale
- Cilt numarası: 35 Sayı: 11
- Basım Tarihi: 2025
- Doi Numarası: 10.1017/s1047951125110202
- Dergi Adı: Cardiology in the Young
- Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus, EMBASE, MEDLINE
- Sayfa Sayıları: ss.2339-2343
- Anahtar Kelimeler: Left ventricular non-compaction, RYR2 gene mutation, Sinus node dysfunction, Sinus pause, Trifascicular block
- Sağlık Bilimleri Üniversitesi Adresli: Evet
Özet
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.