ABSTRACT
INTRODUCTION Hypertrophic cardiomyopathy (HCM) is a complex cardiovascular condition, with a potential for broad phenotypic expression such that clinical symptoms can develop during any phase of life, from infancy to more than 90 years of age.1-7 HCM is inherited in an autosomal dominant fashion with over 12 genes identified as being involved in the phenotypic manifestation.1,7-10
The prevalence of this genetic disorder is of the order of 1:500 in the general adult population and is one of the most common cardiac genetic disorders known.1,7-10 Traditionally, the diagnosis of HCM has been primarily clinical, involving the use of echocardiography to evaluate for certain characteristic features such as left ventricular hypertrophy (LVH), asymmetric septal hypertrophy, systolic anterior motion of the mitral valve (SAM) with left ventricular outflow tract (LVOT) obstruction. Although there have been tremendous advances in the understanding of the genetic predisposition for this disease state, the utility of genetic study for the absolute diagnosis remains preliminary at this point of time.
