Department of Molecular Medicine, University of Pavia, C/o Fondazione IRCCS Policlinico San Matteo, V.le Golgi 19, 27100 Pavia, Italy; Department of Cardiology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy; Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, University of Cape Town, Cape Town, South Africa; Department of Medicine, University of Stellenbosch, Stellenbosch, South Africa; Department of Family and Community Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, United States; Department of Pediatrics, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN, United States; Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, United States; Division of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, TN, United States; Institute for Integrative Genomics, Vanderbilt University, Nashville, TN, United States; Department of Cardiology, Heart Failure Research Centre, Academic Medical Centre, Amsterdam, Netherlands; Princess Al Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia
Schwartz, P.J., Department of Molecular Medicine, University of Pavia, C/o Fondazione IRCCS Policlinico San Matteo, V.le Golgi 19, 27100 Pavia, Italy, Department of Cardiology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy, Hatter Institute for Cardiovascular Research in Africa, Department of Medicine, University of Cape Town, Cape Town, South Africa, Department of Medicine, University of Stellenbosch, Stellenbosch, South Africa, Department of Family and Community Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia; Ackerman, M.J., Department of Medicine, Division of Cardiovascular Diseases, Mayo Clinic, Rochester, MN, United States, Department of Pediatrics, Division of Pediatric Cardiology, Mayo Clinic, Rochester, MN, United States, Department of Molecular Pharmacology and Experimental Therapeutics, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, MN, United States; George Jr., A.L., Division of Genetic Medicine, Department of Medicine, Vanderbilt University, Nashville, TN, United States, Institute for Integrative Genomics, Vanderbilt University, Nashville, TN, United States; Wilde, A.A.M., Department of Cardiology, Heart Failure Research Centre, Academic Medical Centre, Amsterdam, Netherlands, Princess Al Jawhara Albrahim Centre of Excellence in Research of Hereditary Disorders, King Abdulaziz University, Jeddah, Saudi Arabia
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. © 2013 by the American College of Cardiology Foundation.
