Catecholaminergic Polymorphic Ventricular Tachycardia Presented As Generalized Tonic-Clonic Seizure: A Case Report.
Cureus(2022)
摘要
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.
更多查看译文
关键词
catecholaminergic,long qt,polymorphic ventricular tachycardia,ryanodine receptor,seizure,sudden cardiac arrest
AI 理解论文
溯源树
样例
生成溯源树,研究论文发展脉络
Chat Paper
正在生成论文摘要