08:46am Saturday 25 January 2020

Breakthrough in genetic causes for inherited heart failure

Man with children

Dilated cardiomyopathy (DCM) is one of the leading causes of heart failure, affecting more than 30,000 people in the UK. ‘Idiopathic’ DCM is a relatively common form of heart failure that runs in families. The term ‘idiopathic’ means ‘cause unknown’.

The researchers analysed 300 heart patients and identified the most common genetic cause of DCM to be related to the titin gene. This finding will increase the number of cases for which a genetic cause can be identified, meaning that less cases will be classed as ‘cause unknown’.


This study marks the beginning of the end for the diagnosis of ‘idiopathic’ DCM

Professor Peter Weissberg, our Medical Director, said: “This study marks the beginning of the end for the diagnosis of ‘idiopathic’ DCM.

“This research has shown at least a quarter of people with ‘idiopathic’ DCM have a genetic mutation resulting in an abnormal form of titin, which is an essential component of the heart’s pumping machinery. This has important implications for genetic testing of people at risk of DCM and, eventually, for the development of new drugs to treat heart failure.

“As more and more of the genes responsible for inherited cardiac conditions are being identified, it is essential that the NHS provides cascade genetic screening for ‘at risk’ family members. This gives the best chance of identifying those who are affected and offering treatment at an early stage.”

This study was published in the New England Journal of Medicine.

British Heart Foundation is a registered Charity No. 225971. Registered as a Company limited by guarantee in England & Wales No. 699547.

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