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Worm Study: Modifier Genes in Sudden Cardiac Death

Recruiting
18 years of age
Both
Phase N/A

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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.

Study details

Brugada Syndrome, Long QT Syndrome 3

NCT02014961

Maastricht University Medical Center

26 January 2024

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