ABSTRACT

Left ventricular hypertrophy (LVH) is associated with numerous adverse cardiovascular outcomes including the development of a depressed left ventricular ejection fraction,1 heart failure,2 and overall mortality.3 Deciphering the genetic risk factors for LVH may translate into improved prevention, detection, risk stratification, and ultimately treatment of this important disease. Nevertheless, despite the availability of high-throughput sequencing and genotyping, there has been little progress in identifying those polymorphisms in genes which lead to LVH, outside of mutations in sarcomeric proteins which cause familial hypertrophic cardiomyopathy. This lack of progress in elucidating the genetic risk factors of LVH may be understandable when one considers LVH as a complex trait, i.e. impacted by two or more interacting genes, each contributing some small amount of risk to the development of the phenotype, as well as being influenced by environmental factors.