Hypertrophic cardiomyopathy is a genetic disease that affects the cardiac sarcomere, resulting in myocardial hypertrophy and disarray. Affected patients have a predisposition for malignant ventricular tachyarrhythmias and, consequently, sudden cardiac death. With the availability of therapeutic measures that prevent sudden death, the identification of high-risk patientsis now of greater importance. The clinical electrophysiological study is of limited use for stratifying these patients.More recently, increased attention has been given to the degree of echocardiographically documented left ventricular hypertrophy and prognostically significant genetic mutations. Once a high-risk patient is identified, prophylactic treatment is warranted. Tools are now available to identify and treat high-risk patients with hypertrophic cardiomyopathy.
Hypertrophic cardiomyopathy (HCM) is an inherited cardiac myopathic disorder. First described in the medical literature more than 50 years ago [1], HCM is now known to result from mutations within one of at least 10 genes coding for the various cardiac sarcomeric proteins and is inherited in an autosomal dominant manner. HCM results in small vessel coronary artery disease, myocardial disarray and fibrosis accompanied by varying degrees of left ventricular hypertrophy (LVH). The complexity of this disease stems from heterogeneous genotypical origins and the variable degree of penetrance of the clinical phenotype. As a result, patients may have diverse morphological, functional and clinical manifestations, including a higher risk of sudden cardiac death (SCD). The clinical diagnosis is most often made by two-dimensional echocardiography. Themost widely accepted echocardiographic definition of HCM is a maximal left ventricular (LV) wall thickness of 15 mm or greater or the presence of asymmetrical septal hypertrophy (i.e., a septum that is at least 1.3 to 1.5 times the thickness of the posterior wall when measured in diastole) in the absence of any condition that can explain such a degree of LVH [2-4]. However, contributions from genetic research may modify the way that we define this disease in the future because some patients are identified as carriers of a mutant gene without clinically manifesting the disease.

hublot replica watches

Media Contact
John Mathews
Journal Manager
Current Trends in Cardiology
Email: cardiologyres@eclinicalsci.com