Newly published research raises the question of whether suddenly bereaved families are being correctly assessed
Cardiac Risk in the Young (CRY), the charity supporting the landmark research published online today in the prestigious journal, JACC [Journal of the American College of Cardiology] is calling for all families to be referred to specialist cardiology centres following the tragedy of a young sudden cardiac death.
The research, based at St George’s University of London, evaluated over 300 families who had been tragically affected by SADS (sudden arrhythmic death syndrome) over a 10-year period. The team evaluated 911 relatives. Of these relatives, 22% of them were diagnosed with an inherited cardiac condition. The most common condition was Brugada syndrome, affecting 16% of all relatives.
Dr Michael Papadakis, one of the lead authors of the paper comments, “This study highlights the importance of comprehensively testing all first-degree relatives after a SADS death. In our study we showed that 97% of those relatives diagnosed with Brugada could have been missed if an Ajmaline test was not routinely carried out.”
Brugada syndrome causes a disruption to the heart’s normal rhythm. Most people have no symptoms at all, although some may experience blackouts or palpitations. Tragically, often the first sign of Brugada syndrome in a family is the sudden death of a young person.
Paula Beck, one of the original members of CRY’s myheart support group was just 30 when she received the devastating news that her brother Craig, had died suddenly from SADS, whilst living in Australia with his young family.
Initially, Paula’s parents and surviving siblings were advised to request an ECG investigation at their local GP surgery – which appeared normal and the family were told they were not at risk. However, after making contact with CRY, a swift referral to St George’s followed, where specialist tests revealed that Paula and other relatives were also affected by Brugada syndrome.
Paula, who has since been fitted with an implantable cardioverter (ICD) says; “From the day we heard about Craig’s sudden death, I just knew it wasn’t a ‘one-off’, unexplained tragedy. I had to explore all avenues to ensure the rest of my family was safe and not walking around with the same hidden, ticking time-bomb. I can’t bear to think about what may have happened if we hadn’t found CRY’s specialist centre and hope that no other families will slip through the net as we so nearly did.”
The CRY Centre for Inherited Cardiovascular Conditions & Sports Cardiology was first launched in April 2010, under the leadership of Consultant Cardiologist, Professor Sanjay Sharma.
Dr Steven Cox, Chief Executive of CRY, explains; “There’s little doubt that our Centre at St George’s is a global centre of excellence – where families will be seen quickly, have all tests done on the same day, and be seen together as a family unit. But it’s unacceptable that there may be families in other parts of the UK who are not receiving the same reassurance or treatment, at a time when they are already grieving from the sudden death of a young son, daughter or sibling.
“This research reinforces our belief that following a SADS death, it is vital that the bereaved family is not only offered a series of tests including ECG, Echo ultrasound, exercise tests, 24-hour monitoring and Ajmaline test, but families also need to be seen by an expert in these conditions. Our research has shown if they are offered an ECG alone by their GP or cardiologist, this is simply not enough.”
Every week, 12 apparently fit and healthy young (aged 35 and under) people in the UK die suddenly from an undiagnosed heart condition.
Professor Sharma adds; “This paper provides a blue print for how families should be assessed after a SADS death. Often a diagnosis can be very challenging, and you need as much information as possible to get an accurate picture of what has happened and the implications for the rest of the family. Testing families at a specialist centre results in more relatives receiving treatment and lifestyle advice which could potentially save their lives.
“And, at a time when everyone is concerned about how much this is costing the NHS it is important to be aware that referrals to specialist centres for families after a tragedy will not only help to protect young people, but it will also save money. Families will receive better emotional support, being treated by doctors who see families every day who have experienced these tragedies. We can also be sure that only the most necessary – but most clinically important – tests will be conducted.
“There are 600 young sudden cardiac deaths each year age 35 and under – surely the least we can do for bereaved families is to ensure they get the best possible care and that we are doing all we can to prevent any further tragedies.”
CRY now tests around 27,000 young people each year, aged between 14 and 35 and over 150,000 since the screening programme was launched in 1995. One in every 300 young people tested by CRY will be referred for further investigations for a potentially life-threatening condition.
Julie Donnelly’s 17-year-old son, Adam died suddenly whilst on a family holiday. She concludes; “Had we not had the comprehensive testing described in this study after Adam’s death, I believe all of our lives could have been put at risk. In fact, my daughter Sian, has since had an ICD implanted, which will essentially “shock’ her heart should it go into a lethal arrhythmia. No other family should have to go through the same devastating grief as we did – especially knowing there are tests and expert diagnosis available which can identify life-saving treatment or lifestyle modifications.”
The new study, which also received support from the British Heart Foundation (BHF), comes during the BHF’s In Your Genes campaign – a nationwide campaign which aims to raise awareness of inherited heart conditions that can be passed on through families, without sign or symptom.
Professor Sir Nilesh Samani, Medical Director at the British Heart Foundation (BHF), said: “Cardiac screening the loved ones of SADS victims is a postcode lottery. Not every family will undergo the tests needed to find a hidden heart condition and ultimately this could mean the difference between life or death.
“Research like this shows how important it is to investigate an unexpected death. Knowledge is power – if family members can be given a diagnosis, we can treat and protect them from another tragedy.”
Notes to editors:
1 JACC VOL.71, NO. 11 , 2018 Papadakis et al. MARCH 2 0, 2018: 1 2 0 4 – 1 4 ; (full print version available from March 20 2018)
“The Diagnostic Yield of Brugada Syndrome After Sudden Death With Normal Autopsy”
2 The Ajmaline Provocation test is undertaken in a clinical setting with cardiac monitoring. Patients are attached to a cardiac monitor and ECG machine. The doctor will administer the ajmaline (a sodium channel blocker) through a vein in the arm and record an ECG every three minutes. The ECG will record how the heart responds to ajmaline, allowing the doctor to collect very detailed information.
4 A short film of Paula Beck discussing the diagnosis and treatment of Brugada syndrome can be found here.
Paula is also currently taking part in a pioneering clinical study funded by CRY to assess and understand limits of “safe exercise” for young people living with a diagnosis of a serious heart (often inherited) heart condition.