An Elderly Jervell and Lange-Nielsen Patient Heterozygous Compound for Two NewKCNQ1Mutations

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Abstract

We present the case of a 66-year-old female with early onset deafness and seizures, who was diagnosed with epilepsy at the age of 2 years. She received antiepileptic drugs and was free of syncope episodes for 32 years. After a syncope at the age of 34, the ECG was characteristic of long-QT syndrome and was treated with antiarrhythmic drugs. Sequencing of theKCNQ1gene identified two novelKCNQ1variants interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome.

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