Thousands of people with a heart condition which raises the risk of sudden cardiac death will now be able to access the first treatment that specifically targets the disease.
The health regulator has approved mavacamten for use in the NHS in final draft guidance published today.
It specifically targets the source of obstructive hypertrophic cardiomyopathy (HCM), which runs in families and can be a debilitating and life-changing heart disease.
Clinical trial evidence suggests that mavacamten plus standard care is more effective than standard care alone, and that it may avoid or postpone the need for invasive surgery.
The draft guidance from Nice recommends mavacamten, also called Camzyos and made by Bristol-Myers Squibb, as an add-on to standard care that aims to control symptoms.
Around 7,000 people in England and Wales with HCM are set to benefit from the treatment.
HCM is an inherited condition caused by a change or mutation in genes. It is the most common cause of sudden unexpected death in childhood and in young athletes and is believed to have been the reason for former Bolton Wanderers footballer Fabrice Muamba’s collapse on the pitch in 2012.
Sir David Frost’s son was not told that he was at risk from the rare genetic disorder inherited from his father before his unexpected death at the age of 31 in 2015.
Miles Frost, who worked as a financial investor, collapsed while running in Oxfordshire. The family revealed that his death was caused by HCM and have set up a fund to help others with the congenital disorder.
Sir David died in 2013 aged 74 after suffering a heart attack on the Queen Elizabeth cruise ship, and a postmortem revealed he had the condition.
Miles and his surviving brothers were not told that there was a 50 per cent chance they had inherited it. Wilfred and George Frost said at the time that their brother’s death came “totally and utterly out of the blue”, and the knowledge that he might have been able to live a normal life with proper treatment added to their agony.
HCM can also lead to a range of complications including an irregular heartbeat, called arrhythmia, heart failure, stroke and sudden cardiac death. Some people with uncontrolled symptoms may choose to have surgery.
The Nice draft guidance recommends mavacamten for adults with HCM whose symptoms mean ordinary physical activity results in fatigue, palpitations or shortness of breath
Helen Knight, director of medicines evaluation at the health regulator, said: “Today’s draft guidance is another example of our commitment to drive early access to innovative new treatments – in this case a treatment which is yet to be licensed for use in the UK.
“Obstructive hypertrophic cardiomyopathy is a disease for which, until now, there has been no specific treatment that targets its underlying cause. It has a very high and wide-ranging impact on quality of life and because it can develop at any age, it can occur in younger people who may formerly have had very active lifestyles.
“The treatments currently used to try to manage symptoms are associated with side effects and are often ineffective. We’re therefore pleased to be able to recommend a treatment that has the potential to alter the course of obstructive hypertrophic cardiomyopathy and offer greater hope to people with it.”
What is hypertrophic cardiomyopathy?
Hypertrophic cardiomyopathy (HCM) is a disease of your heart muscle, where the muscle wall of your heart becomes thickened.
About one in 500 people are born with the faulty gene that causes the condition, and each child of someone with HCM has a 50 per cent chance of inheriting it. Most people who have HCM are undiagnosed, have few or no symptoms, and can live a normal life.
If you have HCM, the muscular wall of your heart – the myocardium – becomes thickened which can make the heart muscle stiff. This can make it harder for your heart to pump blood out of your heart and around your body.
How thick your heart muscle is and how much of your muscle is affected, depends on the person. The left ventricle (the heart’s main pumping chamber) is almost always affected. The septum (the muscle wall between the left and right sides of the heart) can also be affected, according to the British Heart Foundation.
Most types of cardiomyopathy are seen in children and younger people. People with the condition are also at greater risk of developing a heart infection (endocarditis). These heart changes can cause dizziness, chest pain, shortness of breath and temporary loss of consciousness.
Abnormal heart rhythms, or arrythmias, such as atrial fibrillation or heart block can happen as a result of having HCM. You might also be at risk of endocarditis, an infection of the hearts inner lining.
There is a rare risk of developing a life-threatening abnormal heart rhythm, which can cause a cardiac arrest and sudden death. This is why it’s so important to diagnose people who have HCM, so they can have treatment to stop this from happening.
The most common tests for hypertrophic cardiomyopathy are an ECG, which records the electrical activity of your heart, an echocardiogram – a scan that shows the structure of the heart and its pumping action; an exercise test – an ECG is recorded while you’re on a treadmill or an exercise bike, to see how your heart works when it’s more active; or an MRI scan, which creates detailed images of the heart.