TY - JOUR
T1 - Impact of genetics on the clinical management of channelopathies
AU - Schwartz, Peter J.
AU - Ackerman, Michael J.
AU - George, Alfred L.
AU - Wilde, Arthur A.M.
N1 - Funding Information:
Funded by National Institutes of Health Grants HL068880 and HL083374 . Dr. Schwartz's research activity is supported by Telethon-Italy Grant GGP09247 . Dr. Ackerman is a consultant for Boston Scientific, Medtronic, St. Jude Medical, and Transgenomic. Intellectual property derived from Dr. Ackerman's research program resulted in license agreements in 2004 between Mayo Clinic Health Solutions (formerly Mayo Medical Ventures) and PGxHealth (formerly Genaissance Pharmaceuticals and now Transgenomic). Dr. George has research funding from Gilead Sciences, Inc. , Foster City, California. Dr. Wilde is a member of an advisory board of Sorin and Transgenomic.
PY - 2013/7/16
Y1 - 2013/7/16
N2 - There are few areas in cardiology in which the impact of genetics and genetic testing on clinical management has been as great as in cardiac channelopathies, arrhythmic disorders of genetic origin related to the ionic control of the cardiac action potential. Among the growing number of diseases identified as channelopathies, 3 are sufficiently prevalent to represent significant clinical and societal problems and to warrant adequate understanding by practicing cardiologists: long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome. This review will focus selectively on the impact of genetic discoveries on clinical management of these 3 diseases. For each disorder, we will discuss to what extent genetic knowledge and clinical genetic test results modify the way cardiologists should approach and manage affected patients. We will also address the optimal use of genetic testing, including its potential limitations and the potential medico-legal implications when such testing is not performed. We will highlight how important it is to understand the ways that genotype can affect clinical manifestations, risk stratification, and responses to the therapy. We will also illustrate the close bridge between molecular biology and clinical medicine, and will emphasize that consideration of the genetic basis for these heritable arrhythmia syndromes and the proper use and interpretation of clinical genetic testing should remain the standard of care.
AB - There are few areas in cardiology in which the impact of genetics and genetic testing on clinical management has been as great as in cardiac channelopathies, arrhythmic disorders of genetic origin related to the ionic control of the cardiac action potential. Among the growing number of diseases identified as channelopathies, 3 are sufficiently prevalent to represent significant clinical and societal problems and to warrant adequate understanding by practicing cardiologists: long QT syndrome, catecholaminergic polymorphic ventricular tachycardia, and Brugada syndrome. This review will focus selectively on the impact of genetic discoveries on clinical management of these 3 diseases. For each disorder, we will discuss to what extent genetic knowledge and clinical genetic test results modify the way cardiologists should approach and manage affected patients. We will also address the optimal use of genetic testing, including its potential limitations and the potential medico-legal implications when such testing is not performed. We will highlight how important it is to understand the ways that genotype can affect clinical manifestations, risk stratification, and responses to the therapy. We will also illustrate the close bridge between molecular biology and clinical medicine, and will emphasize that consideration of the genetic basis for these heritable arrhythmia syndromes and the proper use and interpretation of clinical genetic testing should remain the standard of care.
KW - channelopathies
KW - gene-specific management
KW - genetic testing
KW - heart rhythm disorder
KW - sudden death
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U2 - 10.1016/j.jacc.2013.04.044
DO - 10.1016/j.jacc.2013.04.044
M3 - Review article
C2 - 23684683
AN - SCOPUS:84880078317
SN - 0735-1097
VL - 62
SP - 169
EP - 180
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
IS - 3
ER -