Overview
Quest for modifier genes associated with ventricular arrhythmias in presence of a cardiac sodium channel gene (SCN5A-delPhe1617) mutation.
Description
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.
Eligibility
Inclusion Criteria (mutation carrier group):
- Age ≥ 18 years.
- Heterozygous or homozygous carriership of SCN5A-delPhe1617.
- Confirmed kinship to the founder population by haplotype analysis using predefined microsatellite markers.
- Written informed consent.
Inclusion Criteria (non-mutation carrier group):
- Age ≥ 18 years.
- Non SCN5A-delPhe1617 genotype.
- Confirmed kinship to the Founder Group by haplotype analysis using predefined microsatellite marker.
- Written informed consent.
Inclusion criteria Spouse Group
- Age ≥ 18 years.
- Biological parent of SCN5A-delPhe1617 positive subject participating to the Worm Study, and not belonging to study group 1 or 2.
- Written informed consent.
Exclusion Criteria:
- Age ≥ 18 years.
- Biological parent of SCN5A-delPhe1617 positive subject participating to the Worm Study, and not belonging to study group 1 or 2.
- Written informed consent.
