Study findings could improve diagnosis of inherited heart conditions

17 August 2016        

A lab test

Researchers, part-funded by us, have discovered better ways to interpret the genetic information in patients tested for inherited heart conditions called cardiomyopathies. The findings could improve diagnosis of heart conditions passed down through families. 

The researchers, led by experts at Royal Brompton Hospital and the University of Oxford, compared genetic data from nearly 8,000 patients with over 60,000 samples from the general population. They found that some of the rare variants of genes typically associated with cardiomyopathies in genetic testing were not any more common in the cardiomyopathy patients than the general population.

However, the researchers also found that eight out of 48 genes previously implicated in dilated cardiomyopathy, and two thirds of genes that are regularly screened for hypertrophic cardiomyopathy, were much more common among the cardiomyopathy patients. This means they are more likely to be disease-causing and therefore most relevant for genetic testing. 

Diagnosing and treating cardiomyopathies

Going forward the results will allow diagnostic laboratories to identify, more conclusively, individuals with a cardiomyopathy. Once diagnosed, people can be monitored and treated to reduce symptoms and for those at increased risk internal defibrillators (ICDs) can be fitted. 

If undiagnosed, a cardiomyopathy can lead to the sudden death of an otherwise healthy young person. This was the case with Miles Frost, the eldest son of the late Sir David Frost, who died suddenly at the age of just 31 after he unknowingly inherited hypertrophic cardiomyopathy, the most common type of cardiomyopathy, from his father.

What does the research mean?

Our Medical Director, Professor Peter Weissberg, said: “When carrying out genetic testing it is vital to know which of an individual’s many gene variants are important in causing disease, to ensure an accurate diagnosis. Cardiomyopathies can be caused by a large number of gene variations, and although genetic tests are available, it’s often difficult to diagnose people conclusively before symptoms appear. 

“This research represents a major step forward in understanding which genes are most likely to be disease causing, and will help specialists focus on the main disease-causing genes when dealing with cardiomyopathy patients and their relatives. The study emphasises the need for expert interpretation of genetic tests to ensure patients and their families are given appropriate advice."

He added: “Funding more research and ensuring genetic tests are available nationwide is vital if we’re to prevent more people like Miles Frost needlessly losing their lives to inherited heart conditions like hypertrophic cardiomyopathy.”

The Miles Frost Fund

The Miles Frost Fund in partnership with the BHF aims to raise £1.5 million to help make genetic testing available to all families affected by the deadly heart condition hypertrophic cardiomyopathy.

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