Our successes in hypertrophic cardiomyopathy research

What is hypertrophic cardiomyopathy?

Hypertrophic cardiomyopathy (HCM) is a disease that causes the muscle wall of the heart to get thicker, making it harder for your heart to pump blood around the body. It’s passed down through families.

First discoveries

Professor John Goodwin, funded by the BHF, was an early pioneer in improving our understanding of HCM. His research advanced methods to treat and care for people with the condition. In 1960, one of his patients became the first in the world to be operated on for the condition.

In the early 1980s, BHF Professor Michael Davies was one of the first scientists to carry out pioneering pathological studies in people who had died of HCM. He found specific traits which predisposed some to the fatal rhythm disturbance that HCM patients are prone to.

Finding faulty genes

BHF-funded researchers Bill McKenna and Hugh Watkins started looking for possible genetic causes of HCM in the 1980s. After a decade of painstaking research, McKenna and Watkins were among the first to find faulty genes underlying the condition. They found that genes linked to HCM affected proteins required for heart muscle cells to contract efficiently.

Professor Watkins used these findings to set up the first genetic testing service for HCM in the UK. This research means families of someone known to have a faulty gene can find out if they also have it, allowing them to get help to prevent a sudden death. His initial trial, funded by us, found nearly 700 people with faulty genes.

Professor Watkins said: “The consequences of failing to identify those at risk of HCM can be fatal. It’s vital that immediate family members of those affected by HCM are referred for testing, and through this improved service and the support of the Miles Frost Fund we can help hundreds more families.”

The Miles Frost Fund has funded a national £1.5m genetic testing service. It was created in memory of the late Sir David Frost’s eldest son, Miles, who tragically died from undiagnosed case of HCM. Money from this fund makes genetic testing for this condition more easily available on the NHS. It funds specialist cardiac genetic nurses, genetic counsellors and family history co-ordinators.

Learn more about the Miles Frost Fund