A Single Center Prospective Study in an Estimated 570 Patients Who Underwent Genetic Screening at UZ Brussel in the Context of a Primary Cardiac Arrhythmia. Patients Showing a Variant Class 3,4 or 5 in SCN4A or CLCN1 Will Undergo a Clinical and Electrophysiological Review After IC.

Trial statusNot yet recruiting
Trial phaseNot applicable
Trial typeInterventional
Biological sexAll
Age18-100
SponsorUniversitair Ziekenhuis Brussel

About this trial

A prospective interventional single-center study will be conducted. The study includes clinically diagnosed Intramuros PCA-patients who underwent a PCA gene panel of 113 genes (see Appendix 1) in the UZ-Brussel since 2021. In a retrospective part of the study, we will assess cardiac history, cardiac family history, cardiac exams and medical treatment and genetic data and family history. The prevalence of a class 3, 4 or 5 variant in the SCN4A and CLCN1 gene in the PCA-group will be compared to controls who underwent genetic screening for different causes, in which no association with muscular channelopathies is expected, without access to their medical file. In a prospective part of the study, patients with PCA carrying a variant class 3,4 or 5 in the SCN4A gene or a variant class 3, 4 or 5 in the CLCN1 gene will be invited for a one day visit for an interview, clinical neurological assessment and EMG. The aim of this second phase is to describe the clinical presentation of patients with concomitant PCA and non-dystrophic myotonia .

Eligibility criteria

Qualifiers

Patients with PCA who underwent a genetic analysis with a PCA gene panel since 2021 (since the panel involves 112 genes including SCN4A).

Male and female gender.

Disqualifiers

Genetic analysis before 2021

Patients without cardiac screening in UZ Brussel

Trial design

Treatments tested in this trial

  • Electromyography

Treatment groups

570 Participants
are divided into 1 treatment group

Locations

This trial has no locations