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Understanding inherited heart muscle diseases
Inherited heart muscles diseases, also known as genetic cardiomyopathies, can be passed down through families and affect around 1 in 250 people worldwide.
People with these diseases are born with a faulty copy of one of many genes that affects the structure and function of the heart. This makes it more difficult for the heart to pump vital blood around the body and can cause an irregular heart rhythm.
There are different types of inherited heart muscle diseases, which include:
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Hypertrophic cardiomyopathy (HCM), which makes the muscle too thick and too stiff,
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Dilated cardiomyopathy (DCM), which makes the muscle walls stretched and weak,
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Arrhythmogenic cardiomyopathy (ACM), where there is a build-up of scar and fatty tissue in the muscle, and the walls of the heart can become weak.
This short video explains the changes to heart muscle caused by three genetic cardiomyopathies.
These diseases can get progressively worse and cause heart failure – a condition where the heart cannot pump enough blood around the body. Patients with severe heart failure may require a heart transplant.
At worst, they can cause the heart to beat chaotically and lead to sudden cardiac death.
Read more about different cardiomyopathies, and what they mean for you.
The real lives affected by genetic cardiomyopathies
Max's story
Max’s world turned upside down after he was diagnosed with an inherited heart muscle disease called arrhythmogenic right ventricular cardiomyopathy, a form of ACM, as a teenager.
Thankfully, he is still alive today and living with an implantable defibrillator – a small device capable of shocking his heart into a safe rhythm.
But his life hasn’t been the same since, and unlike most young people his age, he can no longer lead the active lifestyle he would like.
Inderdeep’s story
Inderdeep and her two sons have an inherited heart muscle disease called hypertrophic cardiomyopathy.
Her oldest son, Maninder, had his career in rugby ended because of symptoms which began on his 16th birthday. Her youngest son, Manvir, has more severe symptoms than his brother and was unable to attend school full time. He lives with the possibility that he may need a heart transplant.
The vision behind CureHeart
Imagine if we could stop this happening.
Imagine if we could stop these diseases from progressing or even developing in the first place. It would save thousands of families from the fear that a loved one’s heart may stop.
That is the vision behind CureHeart.
Over the last 6 decades, the BHF has been part of important breakthroughs in the fight against inherited heart diseases.
From defining and naming a poorly understood condition we now identify as hypertrophic cardiomyopathy in the 1960s and identifying the gene defects that cause it, to developing a risk tool to help protect children and adults against cardiac arrest.
And now, the biggest discovery of them all – a cure - is in sight.
BHF Professor Hugh Watkins and his team intend to bring the new treatments or cures to early phase clinical trials in the next 5 years.
If successful, they could quite literally change the world for affected families.
The incredible science behind CureHeart
To deliver a cure, we must go deeper, right to the heart of the problem. To mistakes in the DNA itself.
Explore the team’s bold aims, and the science powering their progress.