Worm Study: Modifier Genes in Sudden Cardiac Death

Worm Study: Identification of Modifier Genes in a Unique Founder Population With Sudden Cardiac Death

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.

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.