Key result
Recent progress in genetics has expanded the understanding of inherited channelopathies, making genetic screening highly relevant for diagnosis, risk assessment, and personalized therapeutic decisions.
Genetic screening for inherited channelopathies is increasingly relevant for diagnosis, risk assessment, and personalized therapeutic decisions, requiring specialized expertise.
PURPOSE OF REVIEW: In this article, we summarize the main features of the most common inherited channelopathies, focusing on the findings that advanced the field in the last few years. RECENT FINDINGS: The progress in genetics prompted the discovery of several new genes associated with ion-channel disorders, elucidating new molecular pathways and new arrhythmogenic mechanisms. The diffusion and availability of genetic screening gave a new relevance to the application of genetics not only for diagnosis, but also for risk assessment and therapeutic decisions. As a consequence, the present challenge in the field is represented by the need to use genetic data to develop personalized clinical approaches. SUMMARY: Over a few years, the field of inherited arrhythmogenic diseases has rapidly expanded, thus reshaping clinical management for these conditions. It is now clear that to handle these patients a specialized expertise is needed, able to translate the discoveries derived from basic science studies into the clinical care of the patients.
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Cerrone et al. (2012) conducted a review in Inherited channelopathies. Genetic screening was evaluated. Recent progress in genetics has expanded the understanding of inherited channelopathies, making genetic screening highly relevant for diagnosis, risk assessment, and personalized therapeutic decisions.
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