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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.

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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