Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2020 Mar 20;6(6):352-356.
doi: 10.1016/j.hrcr.2020.03.003. eCollection 2020 Jun.

The missense variant p.(Gly482Arg) in HCN4 is responsible for fetal tachy-bradycardia syndrome

Annette Wacker-Gussmann  1 , Renate Oberhoffer-Fritz  1 , Dominik S Westphal  2   3 , Gabriele Hessling  4 , Ronald T Wakai  5 , Janette F Strasburger  6
Affiliations
Case Reports

The missense variant p.(Gly482Arg) in HCN4 is responsible for fetal tachy-bradycardia syndrome

Annette Wacker-Gussmann et al. HeartRhythm Case Rep. .
No abstract available

Keywords: Arrhythmia; De novo; Fetal bradycardia; HCN4; Prenatal.

PubMed Disclaimer

Figures

Figure 1
Figure 1
Case 1: Fetus at 16 5/7 weeks gestational age. Inflow-outflow of the left ventricle (LV) shows fetal heart rate of 118 beats per minute (bpm). LA = left atrium; RA = right atrium; RV = right ventricle.
Figure 2
Figure 2
Case 2. A: Pedigree of the family. B: Fetus at 31 6/7 weeks gestational age: a 5-minute heart rate trend by fetal magnetocardiography (fMCG). Fetal heart rate reactivity is noted with mild bradycardia at 110–135 beats per minute. C: Signal-averaged fMCG; QTc prolongation (QTc 525 ms) is noted. D: Atrial flutter spontaneously terminates to a slower rhythm. The arrows show small atrial activations. Inset: 20 seconds surrounding event (above) and 5-second event tracing (below). The solid arrows indicate P waves, and the broken arrows indicate unclear P waves.
Figure 2
Figure 2
Case 2. A: Pedigree of the family. B: Fetus at 31 6/7 weeks gestational age: a 5-minute heart rate trend by fetal magnetocardiography (fMCG). Fetal heart rate reactivity is noted with mild bradycardia at 110–135 beats per minute. C: Signal-averaged fMCG; QTc prolongation (QTc 525 ms) is noted. D: Atrial flutter spontaneously terminates to a slower rhythm. The arrows show small atrial activations. Inset: 20 seconds surrounding event (above) and 5-second event tracing (below). The solid arrows indicate P waves, and the broken arrows indicate unclear P waves.
See this image and copyright information in PMC

References

    1. Donofrio M.T., Moon-Grady A.J., Hornberger L.K. Diagnosis and treatment of fetal cardiac disease: a scientific statement from the American Heart Association. Circulation. 2014;27 129:2183–2242. Erratum in: Circulation 2014;27:129:e512. - PubMed
    1. Milano A., Vermeer A.M., Lodder E.M. HCN4 mutations in multiple families with bradycardia and left ventricular noncompaction cardiomyopathy. J Am Coll Cardiol. 2014;64:745–756. - PubMed
    1. Schweizer P.A., Schroter J., Greiner S. The symptom complex of familial sinus node dysfunction and myocardial noncompaction is associated with mutations in the HCN4 channel. J Am Coll Cardiol. 2014;64:757–767. - PubMed
    1. Robinson R.B., Siegelbaum S.A. Hyperpolarization-activated cation currents: from molecules to physiological function. Annu Rev Physiol. 2003;65:453–480. - PubMed
    1. Schweizer P.A., Yampolsky P., Malik R. Transcription profiling of HCN-channel isotypes throughout mouse cardiac development. Basic Res Cardiol. 2009;104:621–629. - PMC - PubMed

Publication types

LinkOut - more resources