Many of you, especially in the UK will have undoubtedly heard of the collapse of Fabrice Muamba. A Bolton Wanderer's football player, who at the time was playing in a FA cup football match watched by thousands. But is this a one-off or are we scratching at the surface with what happened?
Recent media spotlight
I’m really glad he made a full recovery and is on his way to regaining his match fitness, albeit at a gradual pace. The tragedy highlighted and sparked debate within the public about such incidences, that even in a fit young male a cardiac arrest can strike. Unfortunately the same level of success cannot be attributed to the Italian football player Piermario Morosini who died after collapsing during a Serie B league game. I have no doubt that the medical team involved were not at fault.
So does that mean these are one-offs are is this merely the tip of the iceberg? Does it happen to “everyday people” too? Unfortunately the answer is yes.
What are the causes?
Cardiac arrest can be caused by a wide spectrum of heart diseases, some of them genetic some of them not. Many are genetic however, and therefore if spotted at an early age can be carefully maintained. Unfortunately there is a huge discrepancy between the knowledge we understand between the different classes of heart disease, including at the genetic, molecular and physiological level. It is this level of discrepancy that ultimately leads to the effect, – a cardiac arrest – not being investigated further to find out the cause. This has to do with an autopsy.
I am not a medical doctor or coroner, however a paper published by doctors who are funded by the charity Cardiac Research in the Young (CRY) pointed out that many of these subclasses of the causes behind cardiac arrests are not being investigated. “What’s the problem” - you’re asking? “My mother has already died”, and I am terribly sorry to hear that, but, since many of these cardiac diseases are genetic, you too may have the same fate unless something is done about it. In fact the footballer Piermario Morosini had a "macroscopic investigation" post-mortem that was inconclusive. A perfect example of needing genetic analysis which is easily conducted.
CRY is a fantastic charity I came across a few years back during the earlier part of my PhD. I was looking to branch out and volunteer my research and knowledge of Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) in any way possible. The Muamba media coverage has given them some much needed publicity. They rightly point out that coroners are by law not obliged to go into further detail beyond stating that the person died from a cardiac arrest. Think of it this way, if we know the cause behind the cardiac arrest, we have a better understanding of the prevalence in the general population, as well as obviously identifying problems that may afflict direct relatives.
The tip of the Iceberg?
In my field, only 1/1000 is thought to have a gene that predisposes you to ARVC – a cardiac disease that can cause cardiac arrest and lead to sudden death. However, researchers in Finland found that this may be a huge underestimation and they found it to be 1/200 and stated the figure may be even lower.
Unfortunately, ARVC is very difficult to diagnose at the patient level. I was lucky enough to attend a lecture by Professor William McKenna, a specialist in ARVC working in London. He highlighted that some patients who have some signs of ARVC, but not others, do not necessarily mean they have the disease. Indeed there is great variability in the way ARVC afflicts those that are correctly diagnosed. Even worse, he claimed that a genetic database for ARVC collected from patients who were diagnosed with ARVC (a well respected database used by many academics in my field) may not necessarily represent mutants that directly translate to ARVC, a term geneticists call “polymorphisms”. This is a very grey area too, and needs a lot of work, something I have been trying to investigate during my PhD finding interesting results which we published here.
Clearly the cardiac arrest spectrum of diseases needs a lot of investigation still. But I believe the answers will come in the form of geneticists, cardiologists and biochemists working together to find the solutions necessary to combat these heart diseases. So next time someone says "(s)he had a heart attack" - remember that their cause may be wholly different from the next person's.
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