Cardiac and non-cardiac characteristics of Jervell-Lange-Nielsen syndrome

Abstract

We aimed to analyze the management of children with Jervell-Lange-Nielsen syndrome based on their clinical and genetic characteristics and to assess the effectiveness of their therapy.Methods. We analyzed medical data from 12 Jervell and Lange-Nielsen syndrome patients. Mean follow-up was 8.3±5.1 years. Comprehensive cardiological examination include the standard 12-lead electrocardiography (ECG), echocardiography, stress-test, 24-hour Holter recordings, blood tests, thyroid ultrasound, and assessment of thyroid hormone levels, and if necessary, consultation with a neurologist.Results. At the first visit, the mean age was 3.0±2 years old, girls prevailed (67%). All patients are alive now. The mean QTc was 578.9±57.3 ms. Cardiac events had 10 patients (83%), mean age at the first event was 1.9±1.6 years. In 67% of children, syncope was initially regarded as epileptic. All patients received beta-blockers, which were prescribed at mean age 3.0±2.3 years (from 1 month to 7 years). In 8 patients cardiac events recurred despite regular and adequate beta-blocker therapy, all of them were implanted with implanted cardioverter-defibrillator. It was found that patients with the first syncope under the age of 1.5 and delayed initiation of therapy (at the mean age 4.3±1.7 years) had multiple recurrences of syncope despite therapy. Non-cardiac symptoms include sensorineural hearing loss in 100% of cases and hypochromic anemia in 75% of cases.Conclusion. In Jervell-Lange-Nielsen patients who are characterized by resistant ventricular tachyarrhythmia aggressive antiarrhythmic therapy at a very early age is essential for increasing the risk of life-threatening cardiac events. Consequently, diagnosis of the disease in the first days of life is extremely relevant. ECG screening is crucial in solving the problem of early diagnosis of the disease. Extracardiac pathology in patients with Jervell-Lange-Nielsen syndrome necessitates the interaction of doctors of different specialties together when managing a patient.