Inherited heart muscle disease diagnosis breakthrough

14 January 2015        

Man holding lab slide

Researchers we funded have found the genetic faults that cause the inherited heart condition, dilated cardiomyopathy. The findings could improve genetic diagnosis of the condition and save lives.

The study at Imperial College London, one of our six Centres of Research Excellence, involved looked at the DNA of over 5,000 people. The researchers were specifically looking at the DNA involved in making a protein, called titin, that is vital for healthy heart muscle.

What is dilated cardiomyopathy?

Dilated cardiomyopathy (DCM) is a disease of the heart muscle. It causes the heart to become stretched and thin, making it less able to pump blood around the body. This can lead to heart failure. DCM can be acquired but it is often inherited because a faulty gene is passed on to a person by a parent.

Read Simon Morgan's incredible story of life with dilated cardiomyopathy in our Heart Matters magazine.

The researchers, led by Professor Stuart Cook, studied all of the DNA to see which faults are associated with having DCM. Historically the challenge with diagnosing the condition using genetics has been that not all the genetic faults associated with DCM are actually harmful.

But now, this team has sorted the harmful faults from the harmless. This information could help researchers develop an effective genetic test for finding people with DCM so they can be treated before their condition gets worse.

A world first

Our Associate Medical Director, Professor Jeremy Pearson, said: 

This information will be extremely valuable for correct future diagnosis and treatment

Professor Jeremy Pearson
BHF Associate Medical Director

“Determining which mutations in titin are harmful and which are not has been difficult, in part because titin is one of the largest human proteins.

“This study defines, for the first time, a comprehensive list of mutations in the titin gene, which of these are associated with dilated cardiomyopathy, and which are harmless. This information will be extremely valuable for correct future diagnosis and treatment as we enter an era when many people’s genes will be sequenced.”

These important findings were published in the scientific journal Science Translational Medicine.

Our life saving impacts

Researchers we funded were the first to identify the faulty genes that cause another inherited condition, hypertrophic cardiomyopathy, which led to an NHS screening programme. BHF Professor Hugh Watkins is now researching promising new treatments for the condition.

We need your support to continue making life saving breakthroughs like this.