Brugada syndrome: sudden death without warning or reason

Brugada syndrome is a rare, and often hidden, inherited heart condition putting people at risk of sudden death. BHF-funded Dr Elijah Behr has dedicated his research career to finding out more about the disease, with the aim of protecting families from sudden loss. Here, he tells us how he plans to improve the support and treatment of Brugada sufferers.

Brugada syndrome is a rare, inherited condition that affects the electrical activity of the heart and can lead to abnormal heart rhythms, called arrhythmias.

Sometimes the abnormal heart rhythms can lead to ventricular fibrillation which means the heart undergoes very fast, uncoordinated contractions. This usually causes the heart to stop pumping.

Hidden behind a healthy-looking heart

Brugada is a heart condition which hides behind what appears to be a structurally ‘normal’ heart. Without knowing it, the problem lies within the electrical activity, or the wiring, of the heart. Most people won’t experience symptoms, while some may suffer from blackouts, dizziness or heart palpitations.

It can only really be diagnosed in life by finding an abnormality in your electrocardiogram (ECG), called a type 1 Brugada ECG pattern. Sadly, this clue is usually discovered when it is too late.

 

I first became interested in Brugada syndrome when I started studying the families of young adults and children who had died suddenly and unexpectedly, for no apparent cause. This is known as sudden arrhythmic death syndrome, or SADS.

The more thoroughly these families were investigated for evidence of an underlying disease, the clearer it became that there were important causes behind their deaths, including Brugada syndrome.

In fact, my team and I believe Brugada is probably the most important cause of unexplained and unexpected sudden death.

Protecting families from loss

I’ve experienced sudden death in my own family, not in young family members thankfully, but it stays with you no matter what age they are. I’ve also met families who have experienced the tragic loss of a loved one who hasn’t had the chance to live their lives to the full.

It’s hard not to let their stories affect you deeply. Death without warning or reason is incredibly difficult.

So what can I do about it? Through my research, I aim to one day help prevent sudden, unexpected death by learning more about heart conditions like Brugada.

Expanding treatment horizons

Deciding how to treat and support patients who have survived a life-threatening event like a cardiac arrest or dangerous blackout is usually straightforward.

But unfortunately, Brugada syndrome is probably the most difficult heart condition to deal with.

Electronic devices, called implantable cardioverter defibrillators (ICDs), can save the lives of Brugada patients. However ICDs can affect patients’ quality of life and can carry their own risks, which is why research into alternatives is so important. New therapies, such as ablation could be one alternative.

The 'grey area'

People at intermediate risk have usually never had symptoms, but have abnormal ECGs. Low risk Brugada patients are diagnosed by using a special test called the ajmaline test.

One of the biggest challenges is how best to treat Brugada patients who are at low or intermediate risk of sudden death. If they aren’t at high risk, should they really be fitted with an invasive ICD? And are some low risk patients actually at greater risk than we think?

Solving the problem

Thanks to BHF funding, we’ve started a multicentre research study called the RASE Brugada study to assess the risk of sudden death in Brugada patients. We’re actively involving other big centres, so we can gather as many patients as possible — we’re hoping to recruit 1,000 patients in total.

We’re collecting information from our patients about their condition, following them through their health records and also collecting data from their ECGs and from 24-hour ECG recorders to give us as much information as possible.

 

Next, we’ll analyse all of the data for new markers that may help us determine the risk of sudden death in patients who wouldn’t normally be fitted with an ICD. Could all of our new data actually show some low risk patients to be at greater risk than first thought?

These patients could be the ones who usually slip through the net.

We might also find that some patients’ risk of death is lower than first thought, and in fact they don’t need to be fitted with an ICD.

Our hopes for the future

Through our work, we want to improve our care for patients with Brugada syndrome by reducing unnecessary ICD implantation. We also want to use new treatments such as ablation where possible, and making sure treatment is given to those who need it most.

We also have a number of other studies at St George’s Hospital, looking at the genes, and potential causes of Brugada syndrome.

By studying the hearts of SADS victims under the microscope, we’ve found that Brugada is actually partly caused by very subtle problems with the structure of the heart, not just by electrical abnormalities. New discoveries like this are very exciting.

As a team dedicated to our research, we’re determined to improve the lives and outlook for Brugada patients.

Find out more about inherited heart conditions