CARDIOVASCULAR GENOMIC MEDICINE
Genetic Testing in Cardiovascular Disease
Nathaniel H. Robin, MD*,
Paul B. Tabereaux, MD, MPH ,
Raymond Benza, MD and
Bruce R. Korf, MD, PhD*,*
* Department of Genetics, University of Alabama at Birmingham, Birmingham, Alabama
Division of Cardiology, Department of Medicine, University of Alabama at Birmingham, Birmingham, Alabama.
Manuscript received May 19, 2006;
revised manuscript received April 16, 2007,
accepted May 1, 2007.
* Reprint requests and correspondence: Dr. Bruce R. Korf, Department of Genetics, University of Alabama at Birmingham, 1530 3rd Avenue South, Kaul 230, Birmingham, Alabama 35294. (Email: bkorf{at}uab.edu).
Genetic testing is increasingly becoming possible for diagnosis, susceptibility testing, and prognostication in cardiovascular medicine. The practicing cardiologist, therefore, needs to be familiar with the clinical utilities and limitations of genetic testing. This review explores the major approaches to genetic testing and issues in test interpretation. Specific applications to cardiovascular diseases, including coronary artery disease, cardiomyopathies, cardiac arrhythmias, and pulmonary arterial hypertension are discussed.
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Abbreviations and Acronyms
| | ARVC = arrythmogenic right ventricular dysplasia/cardiomyopathy | | CAD = coronary artery disease | | CM = cardiomyopathy | | CPVT = catecholaminergic polymorphic ventricular tachycardia | | DCM = dilated cardiomyopathy | | DCM-CCD = dilated cardiomyopathy associated with cardiac conduction defects | | FDCM = familial dilated cardiomyopathy | | FH = familial hypercholesterolemia | | HCM = hypertrophic cardiomyopathy | | INVM = isolated noncompaction of the ventricular myocardium | | LDL = low-density lipoprotein | | LDLR = low-density lipoprotein receptor | | LQTS = long QT syndrome | | MI = myocardial infarction | | PAH = pulmonary arterial hypertension | | PCCD = progressive cardiac conduction defect | | PPH = primary pulmonary hypertension | | RCM = restrictive cardiomyopathy | | SNP = single nucleotide polymorphism |
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