Pacemaker channel dysfunction in a patient with sinus node disease.

  title={Pacemaker channel dysfunction in a patient with sinus node disease.},
  author={Eric Schulze-Bahr and Axel Neu and Patrick Friederich and Ulrich Benjamin Kaupp and G{\"u}nter Breithardt and Olaf Pongs and Dirk Isbrandt},
  journal={The Journal of clinical investigation},
  volume={111 10},
The cardiac pacemaker current I(f) is a major determinant of diastolic depolarization in sinus nodal cells and has a key role in heartbeat generation. Therefore, we hypothesized that some forms of "idiopathic" sinus node dysfunction (SND) are related to inherited dysfunctions of cardiac pacemaker ion channels. In a candidate gene approach, a heterozygous 1-bp deletion (1631delC) in exon 5 of the human HCN4 gene was detected in a patient with idiopathic SND. The mutant HCN4 protein (HCN4-573X… CONTINUE READING


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The cardiac pacemaker channel gene, HCN2, is not linked with congenital sinus node dysfunction and AV-conduction block

  • E Schulze-Bahr
  • Am. J. Hum. Genet
  • 1999
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