Human genomics and its impact on arrhythmias.
Investigation of families with monogenic arrhythmia syndromes has identified genes whose further study has proven extraordinarily valuable in further understanding variability in cardiac electrophysiology and its response to exogenous stressors. One lesson being learned from this work is that individuals from the same kindred with the same disease-associated DNA variant may nevertheless display strikingly different phenotypes. Further, common function-altering polymorphisms are being identified in these and other genes controlling cardiac excitability. These findings, combined with the recognition that very common arrhythmia syndromes (such as atrial fibrillation or sudden arrhythmic death) include a genetic component, raise the prospect that analysis of genomic variability among individuals and populations may in the future be used to manage patients
Roden
Dan M
DM
Department of Medicine and Pharmacology, Division of Clinical Pharmacology, Vanderbilt University School of Medicine, Nashville, Tennessee, USA. dan.roden@vanderbilt.edu
D001145:Arrhythmias, Cardiac / Q000235:genetics*; D001281:Atrial Fibrillation / Q000235:genetics; D023281:Genomics; D006801:Humans; D008133:Long QT Syndrome / Q000235:genetics; D062554:NAV1.5 Voltage-Gated Sodium Channel; D019683:Penetrance; D011110:Polymorphism, Genetic / Q000235:genetics; D015222:Sodium Channels / Q000235:genetics
D062554:NAV1.5 Voltage-Gated Sodium Channel; C568320:SCN5A protein, human; D015222:Sodium Channels