Focus Issue: Hypertrophic Cardiomyopathy
State-of-the-Art Paper
Diagnostic, Prognostic, and Therapeutic Implications of Genetic Testing for Hypertrophic Cardiomyopathy

https://doi.org/10.1016/j.jacc.2009.02.075Get rights and content
Under an Elsevier user license
open archive

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

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

Cited by (0)

Dr. Ackerman is a consultant for PGxHealth with respect to their genetic tests for cardiac channelopathies and hypertrophic cardiomyopathy.