Referenced in: none

Automatically associated channels: HCN3 , HCN4

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

Authors: Gilles Millat, Alexandre Janin, Olivier de Tauriac, Antoine Roux, Claire Dauphin

Journal, date & volume: Eur J Med Genet, 2015 Sep , 58, 439-42

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/26206080

Abstract
A very recent study suggested that HCN4 mutations could be associated with sinusal bradycardia and myocardial non compaction. A French family with 3 affected sisters presenting the same clinical phenotype (sinus bradycardia in combination with non compaction cardiomyopathy (NCCM)) have benefited both from a systematic cardiovascular exploration and molecular investigations. The molecular analysis, performed by NGS sequencing, led to identify only one likely-disease causing variation: p.Gly482Arg on HCN4 gene. Our results confirm the genetic evidence for the involvement of the HCN4 mutations in the combined bradycardia-NCCM phenotype and illustrates that, in front of this combined clinical phenotype, HCN4 mutations has to be suspected.