10/02/2015 Micar21

New! A pioneering study focused on the prevention of hypertrophic cardiomyopathy (HCM) among individuals with a sarcomere gene mutation (Feb. 2015)

A pioneering clinical study, published in the Journal of American College of Cardiology, once again raises the question: Why Should Cardiologists Consider Genetic Testing for Hypertrophic Cardiomyopathy?

Many thought that medicine in the “post-genome era” would quickly develop into highly personalized care, with targeted therapies based on individual mutations. But. as we all know, changes in medical practice typically take a long time. The ultimate success relies not only on improved diagnosis but also on treatments for genetically predisposed people in order to prevent a disease. Toward this goal, in a recent issue of JACC: Heart Failure, Ho et al. report the results of a pioneering study that was focused on the prevention of hypertrophic cardiomyopathy (HCM) among individuals with a sarcomere gene mutation. During a median follow-up of 25 months, diltiazem treatment was associated with an improvement in certain subdiagnostic manifestations, such as a change in LV wall thickness and a left ventricular end-diastolic diameter (LVEDD). Somewhat surprisingly, blood pressures were not significantly affected. The study included a commendable range of 25 different mutations among the top 3 genes in which mutations cause HCM: MYH7, MYBPC3, and TNNT2. Intriguingly, the results for the subgroup with MYBPC3 mutations were much more remarkable. This is a direct evidence that genetic tests and our understanding of the HCM disease at molecular level are necessary for successful drug treatment.

With the increased clinical use of genotyping for cardiomyopathy, the discovery of a therapy to prevent HCM would be welcomed by many health care providers and families who have watched this condition develop throughout multiple generations. As our understanding of the pathogenesis of HCM and other forms of cardiomyopathy continues to improve, it is easy to envision a time in the near future when these conditions will be readily prevented or halted in their early stages.

Refers to “Diltiazem Treatment for Pre-Clinical Hypertrophic Cardiomyopathy Sarcomere Mutation Carriers: A Pilot Randomized Trial to Modify Disease Expression”

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