De Rosa Gabriella, Delogu Angelica B, Piastra Marco, Chiaretti Antonio, Bloise Raffaella, Priori Silvia G
*Pediatric Cardiology, Catholic University Medical School, Rome, Italy; †Pediatric Intensive Care Unit, Catholic University Medical School, Rome, Italy; ‡Molecular Cardiology, IRCCS Fondazione "Salvatore Maugeri," University of Pavia, Pavia, Italy.
Pediatr Emerg Care. 2004 Mar;20(3):175-177. doi: 10.1097/01.pec.0000117927.65522.7a.
Catecholaminergic polymorphic ventricular tachycardia (VT) is a rare arrhythmogenic disorder, which may cause sudden death and whose relationships with mutations in cardiac ryanodine receptor gene have been recently established. The present article reports a catecholaminergic polymorphic VT case of a 9-year-old girl, without any previous history of syncope, who has been found unconscious while playing and referred comatose to pediatric intensive care unit. The electrocardiogram pattern showed runs of bidirectional and polymorphic VT degenerating into ventricular fibrillation, without QT interval abnormalities. Various attempts of cardioversion, lidocaine, and magnesium sulfate intravenous infusions were only partially effective. Owing to catecholaminergic polymorphic VT highly suggesting electrocardiogram pattern, intravenous propranolol was administered, achieving immediate VT interruption. Long-term nadolol therapy effectively prevented further arrhythmias, with no relapses up to 10 months later; a good neurologic recovery was also obtained. Genetic evaluation revealed in this patient-but not in relatives-a mutation in ryanodine receptor gene on chromosome 1.
儿茶酚胺能多形性室性心动过速（VT）是一种罕见的致心律失常性疾病，可导致猝死，且其与心脏兰尼碱受体基因突变的关系最近已被确立。本文报道了一名9岁女孩的儿茶酚胺能多形性VT病例，该女孩既往无晕厥病史，在玩耍时被发现昏迷，随后被送往儿科重症监护病房。心电图显示双向和多形性VT发作，继而恶化为心室颤动，QT间期无异常。多次尝试进行心脏复律、静脉注射利多卡因和硫酸镁仅取得部分效果。由于儿茶酚胺能多形性VT高度提示特定心电图模式，遂静脉注射普萘洛尔，立即终止了VT发作。长期服用纳多洛尔有效预防了进一步的心律失常，至10个月后未再复发；患者神经功能也恢复良好。基因评估发现该患者——而非其亲属——存在1号染色体上兰尼碱受体基因的突变。
