PDF(Pubmed)
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.
摘要：
儿茶酚胺能多形性室性心动过速（CPVT）是一种遗传性，导致尸检阴性猝死和婴儿猝死的高度恶性心导管病。CPVT的症状范围从无症状到晕厥。我们介绍了一名患者，该患者在过去四年中出现了散发性癫痫发作，并被诊断为局灶性癫痫发作。遗传测试显示，心脏ryanodine受体（RYR2）中具有不确定意义的变体的杂合性。已知致病变异与CPVT相关。放置了皮下植入式心脏复律除颤器（ICD），并在心脏病学诊所中受到密切关注。
