Chemical compound found to treat congenital heart disease

A new clinical trial has successfully improved the cardiac function of mice that suffer from a form of congenital heart disease. Researchers from the University of Missouri, US, have found that by suppressing a faulty protein they were able to reduce the thickness of cardiac muscle, which is a symptom of hypertrophic cardiomyopathy.

According to the National Institutes of Health, congenital heart disease affects one in every 125 babies and is the most common type of birth defect. Hypertrophic cardiomyopathy is one form of the disease, which is when the abnormally thick muscle of the heart means that the organ is weakened. 

In two different syndromes, Noonan and LEOPARD, this thickening of the cardiac muscles is caused by a defect in the Shp2 protein, which is a result of a mutation in the PTPN11 gene. However, it is not understood how this protein works within the heart to result in the thickened muscle.

A research team, led by Dr Maike Krenz, treated mice that had the mutated gene that led to the production of the faulty protein with a chemical compound. It was found that the PHPS1 compound reduced the organ's hypersensitivity to growth, resulting in the muscles becoming thinner. This also allowed for improvements in the cardiac pumping of the heart.

Dr Krenz said that the improved pumping was an important factor as those that suffer from the congenital heart defects are high risk for sudden cardiac death. Ultimately, the development of a treatment to thin down heart muscles could help to save many lives of those that suffer from hypertrophic cardiomyopathy. 

It is hoped that the findings of the latest study can be translated into future work because of the role that the Shp2 protein appears to play in terms of signalling increased growth within the heart. It is possible that further studies based around the protein's function could help find treatments for other forms of cardiac disease, such as weakening and damage to the heart caused by cardiac events.