Quest for modifier genes associated with ventricular arrhythmias in presence of a cardiac sodium channel gene (SCN5A-delPhe1617) mutation.
In a large Dutch SCN5A founder population with malignant ventricular arrhythmias, the investigators aim to identify genetic modifiers by means of whole-exome sequencing and to establish a comprehensive genotype-phenotype correlation, focussing on clinical and cellular electrophysiological characteristics and neurocardiac modulation.
Study Type
INTERVENTIONAL
Allocation
NON_RANDOMIZED
Purpose
DIAGNOSTIC
Masking
SINGLE
Enrollment
223
Skin biopsy
Pagi-Sym, Bristol Stool Chart, gastrointestinal symptom rating scale (GSRS)
Whole-exome sequencing (WES)
Maastricht University Medical Center
Maastricht, Limburg, Netherlands
RECRUITINGDifference in genetic profile (e.g. modifier genes) between mutation carriers expressing different phenotypes and non-mutation carriers.
Time frame: two years
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