Inherited Arrhythmias: Of Channels, Currents, and Swimming.


Inherited arrhythmia syndromes may predispose individuals to life-threatening arrhythmias and sudden cardiac death (SCD). Affected patients are usually young and their everyday lifemay be impaired by recurrent loss of consciousness, palpitations, or dizziness. They might have even been saved from SCD by successful cardiopulmonary resuscitation, which may be the first manifestation of their disease. Making the diagnosis is often difficult, as signs and symptoms may by unspecific, variable in time, and depend on external influences or situations. Biophysical studies, however, have contributed significantly to characterizing specific inherited arrhythmias, analyzing their underlying cause(s) and mechanism(s), identifying risk factors for the development of life-threatening arrhythmias, as well as developing specific treatment strategies. Many inherited arrhythmias result from dysfunctional ion channels, which are proteins at the cell surface dedicated to enable movement of ions across the cell membrane. These diseases are therefore named ‘‘channelopathies.’’ Biophysical methodology is particularly suitable for the investigation of ion channel function to deduce potential therapeutic targets. Different experimental models can be employed, ranging from the expression and characterization of mutation-derived ion channels on single cells to observations in affected patients during diagnostic clinical procedures. Additionally, therapeutic agents are tested in laboratory experiments to confirm their efficacy in restoring coordinated electrical activity. The field of inherited arrhythmias is one example of how biophysical research contributes to elucidating disease mechanisms and developing specific therapeutic strategies. As a consequence, evidence derived from biophysical studies can be transferred to clinical practice to the benefit of patients affected by inherited arrhythmia syndromes.

DOI: 10.1016/j.bpj.2016.02.010

Cite this paper

@article{Zylla2016InheritedAO, title={Inherited Arrhythmias: Of Channels, Currents, and Swimming.}, author={Maura M. Zylla and D Phill Thomas}, journal={Biophysical journal}, year={2016}, volume={110 5}, pages={1017-22} }