Abstract

DORANTES SANCHEZ, Margarita. Ion channelopathies: Overview and current status. Rev Cubana Invest Bioméd [online]. 2012, vol.31, n.1, pp. 1-15. ISSN 0864-0300.

An overview is presented of the current status of cardiac ion channel diseases, their common characteristics and some distinguishing features. Ion channelopathies are inherited arrhythmogenic syndromes caused by ion channel traffic dysfunctions at membrane level (mutations in protein-encoding genes with gain or loss of function), life-threatening arrhythmias, syncope and sudden death, without any gross structural abnormality detectable by conventional methods. The past two decades have witnessed speedy progress in the understanding, diagnosis and treatment of these diseases, a situation which will continue to be as promising in the future with the application of molecular genetics. They are exclusion diagnoses. Structural heart diseases, electrolyte and metabolic disorders, other electrical causes and the use of antiarrhythmic drugs are all discarded. They appear in seemingly healthy young persons, whose debut may be a malignant ventricular arrhythmia or a sudden death event, from which only 5 % are reanimated. They have a very broad clinical spectrum, ranging from asymptomatic cases (electrical signs, no syndromes) to fatal cases. Their actual frequency is unknown, due to: death, erroneous diagnosis, and minimal, intermittent or hidden signs. New diseases are incorporated, some overlap and it is very difficult to stratify risk before the debut. International registries have been developed. The paper presents the data contained in the Cuban National Channelopathy Register for patients reanimated from sudden death events and followed up for 10 years.

Keywords : ion channelopathies; malignant ventricular arrhythmias; sudden death.

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