Dr Lopes makes gene discovery in major cause of sudden death | Latest news

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Dr Lopes makes gene discovery in major cause of sudden death

  • A study led by Dr Luis Lopes has found a new cause for hypertrophic cardiomyopathy, an inherited heart condition which affects approximately one in 500 people in the UK.
  • Hypertrophic cardiomyopathy causes heart muscles to become thicker, which can make it harder for the heart to receive and pump blood.

A study led by a Barts Health consultant has found a new cause for hypertrophic cardiomyopathy, an inherited heart condition which affects approximately one in 500 people in the UK.

Hypertrophic cardiomyopathy causes heart muscles to become thicker, which can make it harder for the heart to receive and pump blood.

While in most cases the condition will not affect daily life, it can cause heart failure and is the most common cause of sudden unexpected death or sudden cardiac death (SCD) in young people.

The discovery, published in the European Heart Journal, provides a new explanation for 1-2% of adults with the condition and could help better spot and treat it.

Dr Luis Lopes, consultant cardiologist at St Bartholomew’s Hospital, part of Barts Health NHS Trust, who also works at University College London’s Institute of Cardiovascular Science, was the lead author on the UCL-led project.

As a result of the study, the new causal variants, known as truncating ALPK3 (alpha-protein kinase) variants, should be added to genetic testing or screening.

This will allow doctors to identify a greater number of people who are at risk of developing the condition and who would benefit from regular monitoring.

In the UK, genetic testing is offered to all those diagnosed with hypertrophic cardiomyopathy in referral centres such as the Barts Heart Centre and, if there is a known genetic cause, to family members as well. The Barts Heart Centre inherited cardiac disease unit is one of the largest in the world, seeing thousands of patients every year. 

While at the moment there is no cure, people with the condition are monitored regularly and given medication.

One important intervention in recent times has been the fitting of an implantable cardioverter defibrillator (ICD), a device similar to a pacemaker that can give a strong electric shock to the heart if it detects a dangerously abnormal heartbeat.

Dr Lopes said: “Hypertrophic cardiomyopathy is a common but very serious genetic condition. By identifying this new cause, we can spot the condition early and potentially save young people from dying suddenly with appropriate monitoring.

“Identifying a new genetic cause is important as it opens up new possibilities for potential treatment. It also helps people with the condition and their families understand why they are affected and what they can do about it.”

The study received funding from the Medical Research Council and the British Heart Foundation.

If you think you or a loved one may be at risk of the disease, please contact your GP. More information can be found on the Cardiomyopathy UK website.

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