FOCUS ISSUE: HYPERTROPHIC CARDIOMYOPATHY: STATE-OF-THE-ART PAPER
Diagnostic, Prognostic, and Therapeutic Implications of Genetic Testing for Hypertrophic Cardiomyopathy
J. Martijn Bos, MD*,
Jeffrey A. Towbin, MD and
Michael J. Ackerman, MD, PhD*, ,*
* Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota
Departments of Medicine, Pediatrics, and Molecular Pharmacology & Experimental Therapeutics, Divisions of Cardiovascular Diseases and Pediatric Cardiology, Mayo Clinic, Rochester, Minnesota
The Heart Institute, Division of Pediatric Cardiology, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio
Manuscript received October 28, 2008;
revised manuscript received February 20, 2009,
accepted February 24, 2009.
* Reprint requests and correspondence: Dr. Michael J. Ackerman, Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory, Guggenheim 501, Mayo Clinic, 200 First Street SW, Rochester, Minnesota 55905 (Email: ackerman.michael{at}mayo.edu).
Over the last 2 decades, the pathogenic basis for the most common heritable cardiovascular disease, hypertrophic cardiomyopathy (HCM), has been investigated extensively. Affecting approximately 1 in 500 individuals, HCM is the most common cause of sudden death in young athletes. In recent years, genomic medicine has been moving from the bench to the bedside throughout all medical disciplines including cardiology. Now, genomic medicine has entered clinical practice as it pertains to the evaluation and management of patients with HCM. The continuous research and discoveries of new HCM susceptibility genes, the growing amount of data from genotype-phenotype correlation studies, and the introduction of commercially available genetic tests for HCM make it essential that the modern-day cardiologist understand the diagnostic, prognostic, and therapeutic implications of HCM genetic testing.
Key Words: hypertrophic • cardiomyopathy • genomics
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Abbreviations and Acronyms
| | ACE = angiotensinogen-I converting enzyme | | DCM = dilated cardiomyopathy | | HCM = hypertrophic cardiomyopathy | | LV = left ventricle/ventricular | | LVH = left ventricular hypertrophy | | LVNC = left ventricular noncompaction | | miRNA = micro-ribonucleic acid | | RAAS = renin-angiotensin-aldosterone system | | RNA = ribonucleic acid |
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