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

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.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Millat G,Janin A,de Tauriac O,Roux A,Dauphin C

doi

10.1016/j.ejmg.2015.06.004

subject

Has Abstract

pub_date

2015-09-01 00:00:00

pages

439-42

issue

9

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(15)30002-1

journal_volume

58

pub_type

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