TY - JOUR
T1 - Diagnostic, Prognostic, and Therapeutic Implications of Genetic Testing for Hypertrophic Cardiomyopathy
AU - Bos, J. Martijn
AU - Towbin, Jeffrey A.
AU - Ackerman, Michael J.
PY - 2009/7/14
Y1 - 2009/7/14
N2 - 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.
AB - 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.
KW - cardiomyopathy
KW - genomics
KW - hypertrophic
UR - http://www.scopus.com/inward/record.url?scp=67649854428&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=67649854428&partnerID=8YFLogxK
U2 - 10.1016/j.jacc.2009.02.075
DO - 10.1016/j.jacc.2009.02.075
M3 - Review article
C2 - 19589432
AN - SCOPUS:67649854428
SN - 0735-1097
VL - 54
SP - 201
EP - 211
JO - Journal of the American College of Cardiology
JF - Journal of the American College of Cardiology
IS - 3
ER -