4 in 10 cardiomyopathies are genetic

26th January 2018

4 in 10 cardiomyopathies are genetic, according to a European Society of Cardiology (ESC) study published today in European Heart Journal.

This is the first European registry on cardiomyopathies, and was conducted as part of the EURObservational Research Programme (EORP) of the ESC. Currently 1 in 300 people in Europe has a cardiomyopathy and this study has looked at data from 3,208 patients enrolled by 69 centres in 18 countries. Data was collected on patient characteristics and treatments.

"We were surprised to see how frequently the disease is inherited," said first author Cardiology Professor Philippe Charron of the Pitié-Salpêtrière Hospital in Paris, France. "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."

Two-thirds of relatives in the study were diagnosed through family screening, which includes echocardiography and an electrocardiogram (ECG). In many cases their disease was as severe as in the first family member identified, with the same frequency of symptoms and requirement for an implantable cardioverter defibrillator (ICD) to stop life threatening arrhythmias.

The study suggested that recommendations should be changed so that family screening starts earlier than ten years of age and extends beyond the current threshold of 50 to 60 years. The EORP study found that some relatives were diagnosed much younger than ten while others were older than 70.

Joel Rose, Chief Executive of Cardiomyopathy UK added, “This research supports our view that families need to start talking to each other about heart disease within the family. Sudden cardiac deaths can only be prevented if people at risk are identified. It also shows how important it is for clinicians not to give a broad diagnosis such as  heart failure which can make it less likely for further investigations such as genetic testing to take place."