| Literature DB >> 36106241 |
Shraddha Acharya1, Pratichhya Devkota1, Ramesh Shrestha2, Ashik K Bajracharya1, Stephen Jesmajian1.
Abstract
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is an inherited, highly malignant cardiac channelopathy that causes autopsy-negative sudden deaths and sudden infant deaths. The symptoms of CPVT range from asymptomatic to syncopal. We present a patient who has had sporadic seizures for the last four years and was diagnosed with focal seizures. Genetic testing revealed heterozygosity for a variant of uncertain significance in the cardiac ryanodine receptor (RYR2). Pathogenic variants are known to be associated with CPVT. A subcutaneous implantable cardioverter-defibrillator (ICD) was placed and is being closely followed in the cardiology clinic.Entities:
Keywords: catecholaminergic; long qt; polymorphic ventricular tachycardia; ryanodine receptor; seizure; sudden cardiac arrest
Year: 2022 PMID: 36106241 PMCID: PMC9452063 DOI: 10.7759/cureus.27806
Source DB: PubMed Journal: Cureus ISSN: 2168-8184