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Case Reports
. 2022 Jun;33(6):1312-1315.
doi: 10.1111/jce.15489. Epub 2022 Apr 17.

Early repolarization syndrome, epilepsy, and atrial fibrillation in a young girl with novel KCND3 mutation managed with quinidine

Mrigank Choubey  1 , Raghav Bansal  1 , Deepti Siddharthan  1 , Nitish Naik  1 , Gautam Sharma  1 , Anita Saxena  1
Affiliations
Case Reports

Early repolarization syndrome, epilepsy, and atrial fibrillation in a young girl with novel KCND3 mutation managed with quinidine

Mrigank Choubey et al. J Cardiovasc Electrophysiol. 2022 Jun.

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.

Keywords: Ito channel; J-wave syndrome; KCND3 mutation; atrial fibrillation; early repolarization syndrome; epilepsy; quinidine.

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References

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