Early repolarization syndrome, epilepsy, and atrial fibrillation in a young girl with novel KCND3 mutation managed with quinidine. (17th April 2022)

• Record Type: Journal Article
• Authors: Choubey, Mrigank; Bansal, Raghav; Siddharthan, Deepti; Naik, Nitish; Sharma, Gautam; Saxena, Anita
• Is Part Of: Journal of cardiovascular electrophysiology. Volume 33:Number 6(2022)
• Page Start: 1312
• Page End: 1315
• Publication Date: 2022-04-17
• Subjects: atrial fibrillation -- early repolarization syndrome -- epilepsy -- Ito channel -- J‐wave syndrome -- KCND3 mutation -- quinidine; Blood vessels -- Physiology -- Periodicals; Electrophysiology -- Periodicals; Heart -- Physiology -- Periodicals; 612.1
• DOI: 10.1111/jce.15489
• Languages: English
• ISSNs: 1045-3873

Abstract

Abstract: A 6‐year‐old girl presented with a difficult to control epilepsy syndrome. On evaluation, additional presyncope episodes associated with polymorphic ventricular tachycardia were also noted. A diagnosis of early repolarization syndrome (ERS) was made with an early repolarization pattern on electrocardiogram, documented VT episodes, and clinical presyncope (proposed Shanghai score 7). Paroxysmal atrial fibrillation (AF) was also noted on 24‐h Holter recordings. The child was stabilized with isoprenaline infusion and was later discharged with arrhythmia control on quinidine and cilostazol. The genetic evaluation revealed a potassium channel KCND3 gene missense mutation. The case highlights the association of epilepsy syndrome and AF with ERS; the possible association of KCND3 gene mutation with a malignant phenotype; and management issues in a small child.