Channelopathies in Pediatric Patients: Is It a Multidisciplinary Challenge?

Background: Channelopathies are rare diseases with a wide variety of clinical pictures. Cardiological, neurological, and musculoskeletal diseases are described. The manifestation depends on the location and the gain or loss of function of the changed ion channel. The pattern of distribution of symptoms or the number of combined cases is little investigated.

Method: In a retrospective analysis over the last 5 years, 65 pediatric patients (8.38 years; male = 28, female = 3 7) with diagnosed cardiac channelopathy (long QT = 44, Brugada = 7, Short QT = 3, CPVT = 3, and ARVC = 3, and various = 4) were included in our study. Patients with pathogenic, likely pathogenic mutation, or clinical diagnosis, respectively, were included and classified whether neurological and/or a musculoskeletal diagnosis was found.

Results: In 4/65 (6.2%) cardiac channelopathies, a neurological diagnoses and in 1/65 (1.5%), a musculoskeletal diagnoses was determined. In none of the cases, a second mutation, explaining the neurologic (long QT = 1, short QT = 1, and CPVT = 2) or musculoskeletal diagnosis (LMNA = 1) was found.

Conclusion: A significant number of pediatric patients associated with congenital arrhythmia susceptibility show as well a severe neurologic impairment. These complex patients require special attention of a multidisciplinary team. Exact understanding of genetic changes and mode of operation of the ion channels help to understand our patients and to foresee future symptoms and prognosis.

Publication History

Article published online:
12 February 2022