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2018 - Multifocal atrial and ventricular premature contractions with an increased risk of dilated cardiomyopathy caused by a Nav1.5 gain-of-function mutation (G213D)

icon sp96   SyncroPatch 384PE (a predecessor model of SyncroPatch 384i) -related publication in International Journal of Cardiology (2018)

Authors:
Calloe K., Broendberg A.K., Christensen A.H., Pedersen L.N., Olesen M.S., de los Angeles Tejada M., Friis S., Thomsen M.B., Bundgaard H., Jensen H.K.

 

Journal:
International Journal of Cardiology (2018) 257:160-167


Abstract:

Background:
SCN5A mutations can lead to different cardiac diseases. Recently, SCN5A mutations have been linked to the clinical entity multifocal ectopic Purkinje-related premature contractions (MEPPC) characterized by ventricular ectopy and dilated cardiomyopathy.

Methods & Results:
A family with a uniform MEPPC-like phenotype, associated with complex atrial and ventricular arrhythmias and dilated cardiomyopathy caused by a high frequency of ventricular ectopy was clinically assessed. Screening of the SCN5A gene revealed a missense mutation in the linker between segments 3 and 4 in domain 1 of the Nav1.5 protein, resulting in a glycine to aspartate substitution at position 213 (G213D). The phenotype co-segregated with the missense mutation. Electrophysiological studies of wild type (WT) hNav1.5 and hNav1.5_G213D expressed in CHO-K cells showed that the voltage of half-maximal activation (V½) was significantly more negative for hNav1.5_G213D compared to WT (V½ = −38.7 ± 0.5 mV for WT and V½ = −42.4 ± 0.5 mV for G213D; P < 0.001). This suggests activation of Nav1.5_G231D at more negative potentials. The V½ of steady-state inactivation was significantly shifted towards more positive values for Nav1.5_G213D (V½ = −86.7 ± 0.2 mV for WT and −82.2 ± 0.3 mV for G213D; P < 0.001), also contributing to a gain-of-function phenotype. Flecainide and amiodarone markedly reduced premature atrial and ventricular contractions in four patients.

Conclusion:
The Nav1.5_G213D mutation is associated with a gain-of-function phenotype, multifocal atrial and ventricular ectopy and dilated cardiomyopathy. Since patients with a MEPPC-like phenotype may specifically benefit from Class-1 antiarrhythmic drugs or amiodarone, clinical identification of this disease entity is important.

Note:
Electrophysiological analysis of heteromers (Nav1.5 and Nav1.5_G213D mutation) were executed on the SyncroPatch 384PE. Data are not shown in the publication.


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