Updates on the Inherited Cardiac Ion Channelopathies: From Cell to Clinical
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- Silva, J.N.A. & Silva, J.R. Curr Treat Options Cardio Med (2012) 14: 473. doi:10.1007/s11936-012-0198-1
The inherited channelopathies are a rare, heterogeneous group of diseases with widely variable clinical presentations and courses. Systematic clinical and experimental work has led to identification of disease-causing genetic mutations and their biophysical manifestation. The process by which the knowledge base is developed, from genetic mutation, to cardiac myocyte, to whole heart, and finally to clinical presentation, has dramatically expanded our understanding of these diseases. Most importantly, we can now begin to comprehend how small changes at the genetic level can dramatically influence a patient’s clinical course.