Am J Cardiovasc Dis 2012;2(4):267-278

Review Article
Genetic epidemiology of left ventricular hypertrophy

Jonathan N Bella, Harald HH Göring

Division of Cardiology, Department of Medicine, Bronx-Lebanon Hospital Center and Albert Einstein College of Medicine,
Bronx, NY; Department of Genetics, Texas Biomedical Research Institute, San Antonio, TX, USA.

Received October 1, 2012; accepted October 23, 2012; Epub October 25, 2012; Published November 15, 2012

Abstract: Left ventricular (LV) hypertrophy is a strong independent predictor of increased cardiovascular morbidity and
mortality in clinical and population-based samples. Clinical and hemodynamic stimuli to LV hypertrophy induce not only an
increase in cardiac mass and wall thickness but also a fundamental reconfiguration of the protein, cellular and molecular
components of the myocardium. Several studies have indicated that LV mass is influenced by genetic factors. The
substantial heritability (h2) for LV mass in population-based samples of varying ethnicity indicates robust genetic
influences on LV hypertrophy. Genome-wide linkage and association studies in diverse populations have been performed
to identify genes influencing LV mass, and although several chromosomal regions have been found to be significantly
associated with LV mass, the specific genes and functional variants contained in these chromosomal regions have yet to
be identified. In addition, multiple studies have tried to link single-nucleotide polymorphisms (SNPs) in regulatory and
pathway genes with common forms of LV hypertrophy, but there is little evidence that these genetic variations are
functional. Up to this point in time, the results obtained in genetic studies are of limited clinical value. Much of the heritability
remains unexplained, the identity of the underlying gene pathways, genes, and functional variants remains unknown, and
the promise of genetically-based risk prediction and personalized medicine remain unfulfilled. However, molecular
biological technologies continue to improve rapidly, and the long-term potential of sophisticated genetic investigations
using these modern genomic technologies, coupled with smart study designs, remains intact. Ultimately, genetic
investigations offer much promise for future prevention, early intervention and treatment of this major public health issue.

Keywords: Left ventricular (LV) hypertrophy, genetic epidemiology, Genome-wide linkage and association studies

Address all correspondence to:
Dr. Jonathan N Bella
Bronx-Lebanon Hospital Center
1650 Grand Concourse, Division of Cardiology
12th Floor, Bronx, NY 10457.
Tel: (718) 518-5405; Fax: (718) 518-5585;
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