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David Wright: My hon. Friend mentioned earlier what was happening across the rest of Europe, and it would be helpful if she could say whether more comprehensive screening is available in other countries. I understand that that is the case in Italy, and we may be falling behind some of our European partners.
Ms Taylor: My hon. Friend is again correct. I do not have complete knowledge of the availability of universal and national screening programmes throughout the world. I shall refer to that later in my speech, however, with regard to New Zealand.
To illustrate this point about using a specialist who has expert knowledge, who has researched this area and who is aware of the often small and incredibly detailed tell-tale signs, I ask the House to think of the emotional shockwaves when a young person dies after having been told that their echocardiogram was clear, when in fact it was not. Echocardiograms are kept—they can be looked at again—and in such cases, when the echocardiogram has been looked at again, it has been clear that there was a problem. I ask the House: how on earth can a family live with the knowledge that the echocardiogram screening process took place, and the medic missed the problem? I am sure that everyone will understand that that is a living hell for the family, but I suggest to the House that the cardiologist who looked at that echocardiogram would also have found it incredibly difficult to live with himself afterwards.
With the best screening practice, the cardiologist would spot the problem, as they know what they must look out for. I spoke earlier about my good friend who was told, "Get on with your life, this heart problem is no more than a nuisance." We now know that the nuisance killed him—he has no life to get on with. The Bill requests that specialist cardiologists are involved in this screening process, and that they must inform patients of the seriousness of their conditions. Patients must then have the opportunity to make decisions that reflect how and in what way they accept or reject that advice.
With best practice, the relatives would also be invited for screening. I want to illustrate that statement. Not only do we know that the condition is inherited, we also know what is the probability of risk: a child has a 50:50 chance of inheriting a disease listed in this Bill if their parents have it. I have been told again and again, however—and it is documented—that in the specific case it was not until the fourth death occurred that anybody thought to screen the rest of the family. The fact that first-degree relatives have a 50 per cent. chance of inheriting the condition means that screening is vital, not only when someone is diagnosed but after a sudden
death when there was no diagnosis. Families who have seen siblings or parents die need to be told the actual cause of that death, and the risks to them and the rest of the family. Too often, they are not—the coroner's report records that the death was by natural causes. It is crucial that a knowledgeable pathologist with relevant training determines the cause of death. On many occasions, families have had to fight to get that information, which is totally unacceptable.I want to talk about each of those problems in more detail. Before doing so, however, let me say that in many cases the cause of most distress is also the cause of greatest hope. If we understand and know where the gap in service is, and we understand that by filling that gap we have a chance to prevent deaths in future, we must surely see this debate as a moment for optimism. We can do something about it. We can find the individuals at risk, treat them and enable them to manage a significantly lower level of risk. Perhaps we can even eliminate the risk altogether.
There are problems to which there are no solutions. I shall be analysing the problems and, where they exist, and the solutions, and explaining how the Bill could plug some of the most important gaps.
I see the first hurdle as the point of diagnosis—diagnosis by a GP who must not shy away from the knowledge that certain symptoms can constitute a warning of a potentially fatal condition, no matter how young and otherwise healthy someone is. Diagnosis is not difficult if the doctor knows what he is looking for. There are often obvious warning signs: palpitations, shortness of breath, fainting or chest pains. All too frequently they are dismissed.
Let me quote from research by Alison Cox, founder and chief executive of Cardiac Risk in the Young. She writes
- "From the personal evidence given to CRY, when a person of 16 years of age presents themselves to a GP surgery or an A and E department, the medics think there can't be anything wrong and they are dismissed. If you have the same symptoms at 60 you are put straight into cardiology. It's ageism in reverse".
An electrocardiogram, or ECG, is commonly used. It is a non-invasive procedure to examine electrical conduction pathways. It can determine the rate and regularity of the heartbeat, the size and position of the chambers, and whether there is any damage. An echocardiogram, or echo, shows muscle thickness and the size of the chambers by means of ultrasound. As well as providing one-dimensional images known as M-mode echo, allowing accurate measurement of the heart chambers, the echocardiogram offers far more sophisticated and advanced imaging. That is known as two-dimensional echo, and is capable of displaying a cross-sectional slice of the beating heart, including the chambers, the valves and the major blood vessels that emerge from the left and the right ventricle.
There are cases in which people have died apparently without cause, having been cleared by ECG and echo. Because both procedures are recorded, it is possible to
take a look—and there, perfectly clear to those who know what they are looking for, are the tell-tale signs of the condition that killed those people. The problem lies not just with GPs but with cardiologists. I acknowledge that cardiologists are highly specialised and very capable, but it appears that in some cases they simply lack knowledge of this particular set of conditions, and do not see problems when presented with the results of an ECG.I stress again that I am making no personal criticism of doctors. I do not want the medical establishment to take me on. I want the medical establishment to understand that what I am saying is academically detailed and uses practical evidence. I ask it to accept that a systemic problem exists: it is not any individual's fault. I realise that hardworking medics prioritise, and that their main clinics consist of people over 50. In such circumstances it is easy to underestimate the problem involved in a 20-year-old's heart condition. The Bill, which emphasises the connection between symptoms and screening by relevant cardiologists, should significantly reduce both the lack of screening and inadequate screening, as well as inadequate interpretation of the results. All those things are central to the cause of death.
Dr. Kumar: I listened carefully to what my hon. Friend said about doctors and the medical establishment. She is making a powerful case. People studying to become consultants and cardiologists may ignore the important factors that she has mentioned, or may be unaware of them. Could they not be included in the curriculum?
Ms Taylor: While I think my hon. Friend's intention is honourable, I think that politicians should be very cautious about telling professionals how to draw up their curriculums. I can suggest and persuade, but it is up to those organisations to define appropriate training, and to ensure that medical practitioners in all spheres understand what they are doing.
We are talking about relevant cardiologists who have clear and specific knowledge of the problem, but are overwhelmed by the work that they are asked to do. That invariably means that they will underestimate the condition of a 20-year-old. I hope that there will be more understanding of the problem as a result of the Bill, and the education process that all of us, not just medics, are undergoing.
The second hurdle involves treatment. The belief that it is not just a question of the symptoms of confirmed conditions but of treatments that do not exist is nonsensical. People have complained that screening cannot be effective because the condition is unidentifiable. As I have tried to prove today, certain highly specialised cardiologists would not agree with that. It simply is not true. While I acknowledge that there is no cure for some conditions, there are treatments that can alleviate or control them, and possibly reduce the risk of death.
There are drugs such as beta blockers, which block the effects of adrenalin on the body's beta receptors. They slow the nerve impulse and travel to the heart. As a result the heart does not have to work so hard, because it needs less blood and oxygen. Beta blockers are also the
impulses that can cause arrhythmia. They are used in cases of hypertrophic cardiomyopathy, arrhythogenic right ventricular cardiomyopathy, Long QT syndrome and Marfan syndrome.Diuretics—water tablets—can be used for dilated cardiomyopathy. It is believed that the young Irish footballer Cormac McAnallen died from dilated cardiomyopathy, but that was induced by a virus. That is very different from inheriting the condition. Diuretics rid the body of excessive fluid, and can be very effective in improving the performance of the heart.
There are the simple steps involved in surgery—normal ablations or excisions of the heart, or a catheter ablation, which involves the delivery of electrical energy via a catheter inserted in the groin and travelling to the right side of the heart where the arrhythmia originates. That creates a small scar which is incapable of transmitting any arrhythmia, and is used for arrhythogenic right ventricular cardiomyopathy.
Radio frequency ablation is carried out by passing a wire into the heart via the large artery in the leg—the femoral artery. The abnormal pathway is located by the electrical stimulation, and destroyed by passing a high current through it. That treatment can be, and is, used for Wolfe-Parkinson-White syndrome. Pacemakers and implantable cardioverter defibrillators—ICDs—are also used. In some patients with hypertrophic cardiomyopathy, a pacemakers achieve a normal signal. Such a signal may fail, and a pacemaker is there to kick the heart back into action. In cases of rapid heartbeat that cannot be controlled by drugs, an ICD can be fitted, which is similar to a pacemaker. A box is implanted under the skin in the upper chest. The box has fine wires that are attached to the heart to record and deliver electrical impulses, in the absence of normal electrical impulses. It is important that I make it clear that treatment is possible. It is crucially important for us all that the need for treatment be acknowledged, and that it be provided.
If the first problem is lack of diagnosis and the second the lack of treatment, the third is that there are no referrals for families in which such a disease can be inherited. Relatives are not invited for screening, yet three or more people in a single family can die because such conditions are inherited. How can relatives not be at risk when it is known that the disease is genetic? I am afraid that no response or explanation can suggest anything other than a lack of knowledge. I defer to my hon. Friend the Member for Middlesbrough, South and Cleveland, East (Dr. Kumar), who suggested that we consider the role of training in this regard. The Bill does not provide for that, but the information that I have received suggests a lack of knowledge on the part of medical practitioners. These conditions are rare, but they have been well researched and well documented in medical journals. Their rarity only underlines the importance of establishing specialists throughout the country, and of using the solutions that the Bill offers.
There are so many examples illustrating the gap in service provision that I cannot give them all, but I shall briefly outline one that presents both a problem and a solution. A woman named Sandra Pearce asked her GP for screening following the death of her daughter, and was told, "I shouldn't worry if I were you. These things are very rare." I accept that that is so, but they are not rare when the condition is part of an inherited gene.
There is a 50 per cent. chance of inheriting such a disease, as I have explained. Her primary care trust turned down her request for testing. Her cousin had come over from New Zealand for the funeral, and on returning, she explained to friends why she had been away. Within 48 hours, her GP was on the phone, advising her to make arrangements for genetic testing. All of us want this medical service to be available in Britain. My Bill asks that this service be recognised, and all will agree that it must be delivered. It is clear that it has great potential for saving lives.Academic research, and research based on practical experience involving actual medical activity, has been published in serious medical journals. It outlined the conditions that can cause fatality, the accompanying symptoms and the treatments that can alleviate the conditions and cut the risk of sudden death. The Bill is primarily concerned with screening as a process for diagnosing conditions, thus helping to prescribe medical solutions where they exist. However, for the House to understand the Bill's relevance, I need to outline the conditions and relate them to the value of screening.
Let us first consider the group of conditions that come under the heading of cardiomyopathies. Hypertrophic cardiomyopathy is the most common cause of sudden death in those aged under 30, and its prevalence in the general population is one in 500. Today, more than 10,000 people in the UK suffer from this problem. In a healthy heart, every beat results from an electrical signal that starts at the top and passes down through the heart. Hypertrophic cardiomyopathy is caused by an abnormality of the proteins responsible for the contraction of the heart. For reasons that are not clear, the abnormal proteins result in a thickening of the heart muscle, and predispose the sufferer to arrhythmias that can cause sudden death.
Hypertrophic cardiomyopathy is incurable but the symptoms can be ameliorated and sudden death is preventable. In the majority of cases, the condition is inherited from a defective gene in one of the parents. As I have said, there is a 50 per cent. chance that each child will have the disease if the parent presents the symptoms. Those symptoms are well known: shortness of breath, chest pains brought on by physical exertion, rapid palpitations and an irregular heartbeat, light-headedness and black-outs.
Treatments do exist, and although there is no cure for hypertrophic cardiomyopathy, screening enables treatment to prevent complications, reduce symptoms and prevent premature death. Treatments include drugs such as beta blockers, the use of an ICD to record and deliver electrical shocks in the presence of fatal heart rhythm disturbances, and in some cases surgery. Through a surgical myectomy, a portion of the thickened heart muscle is removed, and widening the outflow tract in the left ventricle relieves obstruction.
Arrhythmogenic right ventricular cardiomyopathy, involving a progressive replacement of normal right ventricular muscle cells by fibrous tissue and fat, is the second most common cause of unexpected sudden death in the young. The condition is inherited; indeed, there is a 50 per cent. chance of inheriting the abnormal gene. Diagnosis, involving the use of an ECG and 2-D echo, can be problematic and usually requires a specialist with expert knowledge. The features are often very subtle,
underlining the crucial role of cardiologists with the relevant specialism. So it is clear that screening can outline the problem and offer solutions.I offer some startling facts about arrhythmogenic right ventricular cardiomyopathy. Typical symptoms include rapid heartbeat, light-headedness and fainting episodes, occasionally leading to sudden death. Where drugs do not prove successful, the use of an implantable cardioverter defibrillator, a catheter ablation or a surgical ablation may be necessary. So treatments are available and the known symptoms can be detected through screening.
In instances of dilated cardiomyopathy, the main pumping chambers of the heart are dilated and contract poorly. This results in a low output of the blood from the heart. Occasionally, the right side of the heart is also involved, with fluid accumulating in the body tissues, particularly in the ankles and abdomen. Causes can include viral infection or an auto-immune disease. The immune system can be triggered to attack itself, and antibodies against the heart are found in approximately 30 per cent. of dilated cardiomyopathy patients, and in a similar proportion of asymptomatic relatives. In terms of genetics, dilated cardiomyopathy is familial in at least 20 per cent. of cases.
These conditions are well known. The symptoms are shortness of breath, lack of energy, swollen ankles, chest pains and arrhythmias. The treatment after effective screening is there: water tablets and angiotension, which converts enzyme inhibitors to reduce the amount of work that the heart has to do; there are receptor blockers and contractile performance enhancers such as digoxin, and beta blockers to improve the cardiac filling and reduce the work load on the heart.
I am not a medic, and I have taken the information from medical reports. I have been briefed by experts in the field, who have outlined the relationship between symptoms, screening and treatment. I hope that I am persuading the Minister.
Another group of problems are the ion channelopathies. They are genetic mutations that produce proteins that are found mainly on the outside of cells and regulate electrical activity. They are undetected in a post mortem, so it is crucial to understand what the symptoms are so that we can put in place a series of operational opportunities to diagnose.
Long QT syndrome is an ion channelopathy. It is the consequence of an irregular electrical pulse. Two of the potassium channels that regulate the behaviour of the potassium ions moving from the inside to the outside of cells are inefficient, or the sodium channel over-activates. This can be reflected in an ECG process as a lengthening of the period known as the QT interval—hence the name. There are no physical signs of the condition, which is why screening is so important. Diagnosis depends on observation of the ECG and may require repeated ECGs, exercise tests and a 24 to 48-hour tape monitoring. The symptoms are known: black-outs are the commonest, and there are palpitations and sudden death related to exercise or when startled, aroused suddenly or, sadly, when asleep.
The management of the disease is possible with beta blockers, pacemakers, cardiac defibrillators and lifestyle changes, which means avoiding strenuous exercise.
There are many diseases, and I could go on in great detail. They include Brugada syndrome; Wolfe-Parkinson-White syndrome—which produces a very rapid heart rate but is usually completely silent and can be detected only with routine ECG screening; Lev-Lenègre syndrome, which is very rare, but well documented; and Marfan syndrome, an inherited disorder of connective tissue suffered by more than 5,000 people in Britain. The treatment suggested is regular ultrasonic scans to check the condition of the aorta wall and prevent a tear or ruptures. That can be done with beta blockers, or an operation may be required to strengthen the wall.
These conditions are well documented and presented academically in medical journals. The symptoms can be detected through screening, and there are clear and unequivocal corrective measures, including drugs such as beta blockers. The common factor in all the conditions is that screening can be seen to define diagnosis and support prescribed treatments. Nobody is under any illusion about the fact that some of these conditions will result in death, but surely not in the numbers that we have today—the best guess is four or eight a week. The conditions are inherited.
I have a little further to go. I promise the House that I will not be much longer—probably 15 minutes. [Laughter.] I wanted to give hon. Members a realistic hope and cheer them up.
What does the Bill suggest? Its aim is to achieve access to a screening process to confirm or identify a disease.
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