Faulty 'brake' interferes with heart muscle's ability to contract and relax

4th March 2019

A new study from Harvard School and Brigham and Women’s Hospital has pinpointed a faulty molecular brake present in the most common form of hypertrophic cardiomyopathy (HCM) and has identified a candidate compound that restores heart muscle function in human and mouse. 

Hypertrophic cardiomyopathy (HCM) is the most common genetic disease of the heart and a leading cause of sudden cardiac death in young people and athletes. Scientists have long known that the condition’s cardinal feature—an unusually thick heart muscle that contracts and relaxes abnormally — is fuelled by some glitch in the heart’s molecular machinery. Yet, the precise spark plug that ignites such disordered muscle movement has thus far remained unknown.

Now a new study in Science Translational Medicine has pinpointed a faulty molecular brake that fuels disease development and identified a candidate compound that restores heart muscle function in human and mouse cell.

If replicated in further studies, the team's findings can lead to the development of better precision-targeted therapies that correct the underlying muscle-protein dysfunction in HCM. This would be  a significant improvement over current treatments that tackle the disease symptomatically but fail to address its root cause. Such approaches include medications to relieve symptoms, surgery to shave the enlarged heart muscle or implanting tiny cardioverter defibrillators that shock the heart back into rhythm if its electrical activity ceases or goes haywire.

Cardiomyopathy Support Nurse Jayne said “The above findings of the study could mean that a new medication which would correct the protein defect and restore heart muscle contractility which the study authors  hope then lead to a reduction in abnormal heart rhythms such as atrial fibrillation and heart failure symptoms. Hopefully these findings can eventually lead to medicines which correct the malfunction of the heart muscle rather than those which the symptoms of the condition and help to support the function of the heart”.