Contribution of HCN1 variant to sinus bradycardia: A case report.

ABSTRACT:

Background

Missense mutations in the hyperpolarization-activated cyclic nucleotide-modulated (HCN) channel 4 (HCN4) are one of the genetic causes of cardiac sinus bradycardia.

Objective

To investigate possible HCN4 channel mutation in a young patient with profound sinus bradycardia.

Methods

Direct sequencing of HCN4 and whole-exome sequencing were performed on DNA samples from the indexed patient (P), the patient's son (PS), and a family unrelated healthy long-distance running volunteer (V). Resting heart rate was 31 bpm for P, 67 bpm for PS, and 50 bpm for V. Immunoblots, flow cytometry, and immunocytofluorescence confocal imaging were used to study cellular distribution of channel variants. Patch-clamp electrophysiology was used to investigate the properties

SUBMITTER: Yu H 

PROVIDER: S-EPMC8485797 | biostudies-literature | 2021 Oct

REPOSITORIES: biostudies-literature