#SADS Q&A with JHMT's SADS expert Dr Ffion Davies, Consultant in Emergency Medicine (A&E), University Hospitals of Leicester NHS Trust

Why does SADs particularly affect 12-35 year olds?

Most SADS cases have a genetic origin, and although babies and small children can die from the various different abnormalities which can cause SADS, cases tend to come to light in teenage years and the early 20s, as the heart grows and matures

In what percentage of deaths are no symptoms found?

It's difficult to say, and you can't put a number on it. As a doctor you can often uncover past symptoms if you ask lots of careful, specific question, usually weeks or months after the death when parents are given time to consider the question and remember possible instances of warning symptoms. However, it's only natural that any relative in that situation is prone to remembering events which perhaps had no relevance.

What does screening involve and how can people request it / get it?

Screening usually involves a questionnaire and an ECG recording. This is painless and only takes a minute to get an electrical reading of the heart, while lying still. If there are concerns at that stage, an echocardiogram (ultrasound scan of the heart) can be organised. Screening for totally normal people with no family history or symptoms is patchy around the UK and isn't something the NHS will provide. The charity Cardiac Risk in the Young can offer subsidised screening if there is none available in your area. Screening for very sporty or active people is often organised through local clubs, or organisations such as the Rugby Football Union, FIFA, UEFA, Ministry of Defence, etc. Screening of people with possible symptoms or cases in the family can be organised through the family's own doctor (General Practitioner).

Do you have to be 14 before screening is possible?

Not if there are any warning signs or cases in the family, but for the general population it is better to wait until 14 as the heart is not fully mature until that time so you can get a "false negative" result – in other words, there is a problem which doesn't show up on tests until the child is older.

Why does SADs commonly seem to occur when a person is exercising?

When exercising, the heart beats faster and harder, and may also suffer slightly low oxygen levels in conditions of very strenuous exercise. Under these conditions, if a person already has a tendency to have abnormal heart structure or has a genetic problem with the electrical conduction, the heart may go into an abnormal rhythm and in the worst case scenario, to into a cardiac arrest (which is the pattern of events in SADS)

In what percentage of cases could fast and effective CPR and use of a defib save a life?

If CPR is starter immediately, done effectively (by a trained person with the victim lying flat) and a defibrillator can then be got to the victim within 8 minutes, the majority of cases could be saved, without brain damage. We saw that, with the excellent resuscitation which Fabrice Muambe received last year.

When and why did you start championing the need for greater awareness of the risk factors of SADs?

All doctors have become more aware of the diseases causing SADS over the last 20 years. As an A&E consultant, and one who specialises in emergencies of children so has seen many cases, I realised several years ago that we need to get the message out to health professionals, not to underestimate faints or collapses which happen for no good reason in healthy young people. If we can pick things up at the stage of warning symptoms, we can prevent SADS cases very successfully, often with just simple medication and advice.

As a medical professional, what do you think needs to happen to help identify these risks in more people and prevent more tragic deaths like Joe's?

Awareness is key: amongst the public, those involved in sports, and obviously doctors, nurses and ambulance staff. The public are often prepared to pay for screening, but there isn't the capacity to offer enough screening. This is a problem. Lastly, the government has tasked ambulance services with providing more defibrillators in public places, but actually private companies should do their bit too, and buy them for areas where there are either large numbers of the public or the public is doing sports.

Thank you Dr Davies

A child/young adult should seen by a doctor if she/he has experienced below:

• Family history of unexpected, unexplained sudden death (under the age of 40).
• Do you get unusually short of breath during or shortly after exercise?(not explained by just being unfit!)
• Do you get palpitations (eg, heart racing fast, missing beats, fluttering sensation, irregular pulse rate, thumping sensation in chest)?
• Fainting as a result of emotional excitement/distress/startle?

A child/young adult should seen by a doctor if she/he has experienced below:

• Family history of unexpected, unexplained sudden death (under the age of 40).
• Do you get unusually short of breath during or shortly after exercise?(not explained by just being unfit!)
• Do you get palpitations (eg, heart racing fast, missing beats, fluttering sensation, irregular pulse rate, thumping sensation in chest)?
• Fainting as a result of emotional excitement/distress/startle?