European experts today call for screening to be offered to family members of cardiomyopathy sufferers.
Professor Philippe Charron of the Pitie-Salpetriere Hospital in Paris, France, and colleagues explain that about 40% of cardiomyopathies are genetic. As this condition is a major cause of sudden cardiac death and heart failure in young people, family screening is urgently needed, they believe.
In the European Heart Journal today (24 January), they describe their study, which included 3,208 patients enrolled by 69 centres in 18 countries. This showed that two-thirds of relatives were diagnosed via family screening, using echocardiography and an electrocardiogram.
The experts would like the recommendations to be changed so that family screening begins before ten years of age and extends beyond the current threshold of 50 to 60 years- so no patients are missed.
Professor Charron said: "We were surprised to see how frequently the disease is inherited. About 40% of patients had familial disease. As a consequence it is very important to improve screening to detect the disease in the relatives who are apparently healthy.
"The cardiac expression of these genetic diseases starts early in some patients. In others it is delayed for many decades – longer than previously thought."
About a third of patients in the study had undergone genetic testing. The researchers would like this rate to increase, so that individuals with the risky mutation can have regular cardiac follow up to identify changes to heart muscle and function.
"The earlier we identify relatives with the mutation, the better we can manage them and prevent complications including sudden cardiac death," said Professor Charron.
Charron, P. et al. The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies. European Heart Journal 25 January 2018; doi:10.1093/eurheartj/ehx819
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