Data from European Heart Journal - Curated by EPG Health - Date added 25 January 2018

 

According to a European Society of Cardiology (ESC) study published today in European Heart Journal, genetics could be responsible for as many four in ten cardiomyopathies – a major cause of sudden death in young people. The paper, goes on to urge more frequent family screening in order to prevent early death in apparently healthy relatives.

Lead author and Cardiology Professor Philippe Charron of the Pitié-Salpêtrière Hospital in Paris, France commented,

“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.”

Family screening proved to be the key in discovering those at risk, with two-thirds of relatives diagnosed through echocardiography and an electrocardiogram (ECG).

However, the study found that reccomendation on screening should be changed to start earlier than the current ten years of age and also inlcude those older than 70 to give the best chance of detecting the heart rhythm disorders, called arrhythmias, which can lead to sudden cardiac death. An important part of managing patients with cardiomyopathies is to diagnose arrhythmias early.

Despite the importance of early diagnosis, the study found that one in three patients did not receive the necessary diagnostic tests, leading the authors to recommend a need for more expert centres at European and national levels to diagnose and manage patients with cardiomyopathies.

Expert centres should meet the following criteria:

  • Cardiac tests conducted to identify life threatening arrhythmias
  • Tests to check heart function including magnetic resonance imaging when appropriate
  • Specific investigations performed to identify rare causes of a cardiomyopathy
  • Genetic tests performed in patients with cardiomyopathies, then relatives screened for the genetic mutation with subsequent cardiac monitoring if a mutation is found.

Professor Charron said: “Expert centres for cardiomyopathies would improve the diagnosis and management of these diseases in patients and their family members, and help to prevent heart failure and sudden deaths.”

When a mutation is identified, genetic testing can then be performed in first degree relatives. Those with the mutation should have regular cardiac follow up, including an ECG and echocardiogram, to check for 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.

What is cardiomyopathy?

Cardiomyopathy is where the heart muscle becomes enlarged, thick or rigid. As the condition worsens, the heart becomes weaker and less able to pump blood through the body and maintain a normal electrical rhythm.  Around one in 300 people in Europe has a cardiomyopathy.

Read the full report on the ESC website.

References

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. 2018. doi:10.1093/eurheartj/ehx819

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