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HCN4 mutation as a molecular explanation on patients with bradycardia and non-compaction cardiomyopathy

Gilles Millat1, Alexandre Janin1, Olivier de Tauriac2

  • 1Laboratoire de Cardiogénétique Moléculaire, Hospices Civils de Lyon, Lyon, France; NGS Sequencing Platform for Molecular Diagnosis, Hospices Civils de Lyon, Lyon, France; Université de Lyon, Lyon F-69003, France.

European Journal of Medical Genetics
|July 25, 2015
PubMed

Insights

Genetic mutations in the HCN4 gene are linked to sinus bradycardia and non-compaction cardiomyopathy (NCCM). This study confirms HCN4 mutations as a cause for this combined cardiac phenotype.

Area of Science:

  • Cardiovascular Genetics
  • Molecular Cardiology

Background:

  • Sinus bradycardia and non-compaction cardiomyopathy (NCCM) are distinct cardiac conditions.
  • Recent research suggested a potential link between HCN4 gene mutations and these phenotypes.

Observation:

  • A French family with three sisters presented with concurrent sinus bradycardia and NCCM.
  • Systematic cardiovascular and molecular investigations were performed on the affected individuals.

Findings:

  • Next-generation sequencing (NGS) identified a single likely pathogenic variant, p.Gly482Arg, in the HCN4 gene.
  • This finding provides strong genetic evidence for HCN4 mutations in patients with the combined bradycardia-NCCM phenotype.

Implications:

  • HCN4 gene mutations should be suspected in individuals presenting with the combined phenotype of sinus bradycardia and NCCM.
  • This study reinforces the role of HCN4 in cardiac development and function.

Keywords:
HCN4 mutationsMolecular diagnosisMyocardial non compactionNGS sequencingSinusal bradycardia

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