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Potential heart disease cure renews calls for screening programme to save young lives

Posted: 16/08/2022

In recent days, scientists have reported that they believe they can produce an injectable cure for inherited heart muscle conditions that can kill young people in the prime of their lives.

It is clear that much has moved on in the world since 2019 when we published an article on whether it was time for a cardiac screening programme in the UK to try to save young lives. However, despite the positive recent developments in treating genetic faults responsible for different cardiomyopathies, the calls for a cardiac screening programme continue.

As Dr Stephen Cox, CEO of the charity Cardiac Risk in the Young (CRY), explains: “…people need to know if they have a condition (such as cardiomyopathy) before they can be treated...”

CRY continues to report that every week in the UK around 12 young people die of an undiagnosed heart condition. Many will be fit, healthy and active with no awareness that anything is wrong, meaning there is no opportunity to intervene sooner to prevent such fatalities.

The reality of this was brought to the attention of many last year when 30 year old footballer Christian Eriksen suffered a cardiac arrest during Denmark’s opening game of Euro 2020. Fortunately, he was successfully resuscitated via CPR and with the use of a defibrillator. Eriksen now has an implantable cardioverter defibrillator (ICD) fitted which can reset the heart after a cardiac arrest, allowing him to return to playing professional football.

Sadly, for some, the outcome is very different. There were reports on 31 July of a 31 year old man who sadly passed away of a cardiac arrest while playing football, leaving behind his partner and one year old son.

Although a number of screening programmes are funded by the government, cardiac screening for the young is not one of these.

One of the most common investigations that is carried out to test for various heart conditions is an electrocardiograph (ECG). This can be invaluable in achieving an early diagnosis which could potentially save someone’s life. CRY helps raise awareness of the value of a simple ECG investigation in saving the lives of young people. It offers subsidised screening to all those between the ages of 14 and 35.

These screening sessions are not publicly funded by the government in any way, and the reality is that they are only possible as a result of the hard work and tireless fundraising of the supporters of CRY, most of whom will be bereaved families who have lost a young person due to a cardiac condition.

What exactly are ECGs and echocardiograms and why are they so important?

The basics of an ECG
An ECG is a test that uses a machine to record the heart’s rhythm onto paper after electrodes have been placed onto the patient’s chest, arms and legs. The electrodes detect the electrical signals produced by the heart each time it beats. The recording on the paper will then be analysed by a doctor who is able to determine whether the heart muscle is damaged or short of oxygen.

The test is sometimes carried out in a hospital, but it can also be performed in a GP surgery.

There are several specialised ECG tests that can be carried out to investigate any further concerns. These include an exercise tolerance test where the ECG scan takes place while the patient is exercising and resting, and a cardiac holter monitor, which is a portable ECG machine, usually worn for 24 to 48 hours to monitor the heart rate and rhythm over a period of time.

Although they have similar names, echocardiograms and ECGs are often confused and patients sometimes believe they have had an echocardiogram when they have, in fact, only had an ECG.

An echocardiogram (echo) is similar to an ultrasound scan in that it provides a moving picture of the heart as it is working. It uses sound waves to study the structure of the heart and assess how not only the heart muscle is working, but also whether the valves of the heart are functioning correctly. An echocardiogram exercise tolerance test can sometimes be performed to visualise the heart on a scan while the patient is exercising.

How is an ECG carried out?
Senior associate, Emma Beeson, who is a member of the firm’s cardiology sub-team, explains her own experience of undergoing an ECG:

“The test was relatively quick and painless. You are required to take any clothing off the top half of your body and sticky electrodes are placed onto your arms, chest and ankles. The test can take a few minutes while the machine monitors your heart activity, but it is over relatively quickly, and the sticky electrodes are then removed in the same way as removing a sticky plaster. Once the machine has produced a reading, this is analysed by a cardiologist who can determine whether further investigation is needed.”

The need for a screening programme in young people

The question is, therefore, should an ECG be offered to young people at certain stages of their lives and, particularly, anyone who is taking part in any form of sporting activity or event?

A doctor may decide to perform an ECG if a patient reports symptoms such as chest pain, palpitations, dizziness or shortness of breath.

The difficulty is that many young people who have been reported to suffer a cardiac arrest have not shown signs of such symptoms. It is for this reason that screening programmes run by CRY are so important in revealing underlying heart conditions in young people before they suffer either a heart attack or a catastrophic cardiac arrest.

Heart for Life, a private company set up in Jersey to screen the island for inherited and acquired heart disease, reports that heart screening has been compulsory in all teenagers and adults competing in athletic sports in Italy since 1982. Many other European countries offer similar cardiac screening programmes including France, Greece, Spain, Luxembourg, Sweden, Norway, Germany and Poland.

Emma Beeson explains:

“As someone who knows all too well the impact losing a young person from an undiagnosed cardiac condition can have, I believe it is vital that awareness of the risk to young people should continue to be raised and the benefits of a screening programme considered.

“These are often people in the prime of their lives whose loss leaves behind such devastating consequences for partners, children, parents, family, friends and work colleagues.

“It is natural to ask the question, could something have been done? Where someone has passed away due to a cardiac cause this question is even more important because of the implications it could have for family members and young people left behind, as some cardiac disorders can be inherited. It is fantastic to hear of the potential development of a cure for an inherited heart muscle disorder, but the success of this treatment will only be possible with early identification of the condition and ensuring that there is clear and appropriate communication of this information to those who are affected by such a diagnosis.”

Cardiac medicine is a complex area where specialist advice and input should be sought. At Penningtons Manches Cooper, our clinical negligence team has experience of dealing with a wide range of claims relating to incorrect cardiac treatment or failures to diagnose serious cardiac conditions. We understand the devastating effect untreated cardiac conditions can have on both patients and their families.

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