Research highlights the urgent need for better diagnosis of deadly inherited heart conditions

9 March 2018        

Category: Research

A picture of Paul Heywood and his family. Paul has an inherited heart condition called dilated cardiomyopathy, or DCM.

Paul Heywood and his family. Paul has been diagnosed with an inherited form of a heart condition called dilated cardiomyopathy (DCM).

New figures we’ve released today show that people with potentially deadly inherited heart conditions are too often not diagnosed until a life-threatening cardiac arrest or sudden death in the family.

We’ve released the figures to launch our In Your Genes campaign which is taking place throughout March. The campaign aims to raise awareness of inherited heart conditions and highlight the urgent need for better diagnosis of these conditions, so people can be identified before a tragedy or life-threatening cardiac arrest. Find out more about the In Your Genes campaign here.

Our survey of almost 200 people with inherited heart conditions from across the UK found that one in six (16%) people with a deadly inherited heart condition are only diagnosed after having a cardiac arrest, whilst a fifth (18%) of people are diagnosed after a sudden death in the family.

Passed down through families

We estimate that around 620,000 people in the UK have a faulty gene which puts them at an unusually high risk of developing heart disease or dying suddenly at a young age. Each child of someone with an inherited heart condition has a 50 per cent chance of inheriting the same faulty gene. But the majority of people remain undiagnosed. In the UK it is estimated that at least 12 young people (aged under 35) die every week from an undiagnosed heart condition.

The survey also found that nearly half of people (48%) were not diagnosed with their inherited heart condition until they were over the age of 40. We are urging people to speak to their family about any early sudden deaths or premature heart disease in the family, which might have been caused by an inherited heart condition.

We now know about many of the genes which cause inherited heart conditions, thanks in-part to research we’ve funded. However more research is urgently needed to better detect and treat these conditions to stop the devastation brought to loved ones, who could also be at risk themselves. 

Cascade testing to find the faulty gene

Once someone has been diagnosed with an inherited heart condition, genetic testing should be carried out on first-degree relatives – a process called cascade testing. Genetic testing on family members can identify individuals who carry the faulty gene and steps can be taken to monitor individuals and reduce the risk of sudden death, such as surgery, medication or lifestyle changes.

Speaking about the importance of cascade testing, Professor Sir Nilesh Samani, Medical Director at the British Heart Foundation, said: “It is extremely important that family members are offered genetic testing when there’s a history of sudden death or premature heart disease in a family. Once diagnosed, many of these conditions are manageable with medication or ICDs, and can prevent needless deaths. If you have a family history of unexplained sudden death in your family, you should speak to your GP or call our Genetic Information Service on 0300 456 8383."

Uncovering a hidden killer

Thirty-nine year old Paul Heywood, from Manchester, was diagnosed with an inherited heart condition called dilated cardiomyopathy (DCM) after his father died suddenly at the age of 69. Shockingly, Paul’s dad was the first male in his family for three generations to live past 55 years of age, which he now understands is probably linked to his inherited heart condition. When Paul was finally diagnosed  with the condition there was already significant damage to his heart, and he has now had an ICD fitted, which will deliver a shock to his heart if it enters an irregular rhythm. Paul is married with two young children, aged 5 and 2, who will be tested for the gene when they are a bit older.

Inherited heart conditions can affect anyone. But BHF research is keeping families like Paul's together.

Find out more about our vital research