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  1. 1. SADS Conference June 2004 - Archive SADS UK & OXFORD GENETICS KNOWLEDGE PARK Cardiac Arrhythmias, Research and Therapy; A holistic approach June 26 th - 27 th , 2004 Hanover International Hotel, Daventry, Northamptonshire At the 1 st International SADS Conference held in London last year it became clear that the regular opportunity to gain up to date information and knowledge and to share experiences was crucial to people living with heart conditions that cause cardiac arrhythmias and those whose loved ones have sadly died through a suspected fatal cardiac arrhythmia. To follow up on the success of the conference last year we are running another event this year. In addition to providing opportunities to share experiences, the conference this year will include presentations on the latest clinical and research developments. We hope that you will be able to come along. Research update The Department of Cardiovascular Medicine at Oxford University is a leading cardiovascular clinical and research centre. Researchers there are currently developing routine clinical genetic testing for inherited cardiomyopathies and the Long QT Syndrome, conditions that can cause dangerous cardiac arrhythmias if not treated. Professor Hugh Watkins and Dr Edward Blair from Oxford will present an overview of current research into the genetics of these conditions and how these findings influence clinical practice. Cardiac arrhythmia therapy Professor John Camm, Professor of Clinical Cardiology, St George's Hospital Tooting will provide information and debate about ICD's, drug therapy and drug induced arrhythmia. Ethical issues in genetic conditions Genetic testing and clinical diagnosis of inherited cardiovascular conditions raises a number of important ethical questions both for clinicians and for family members. These include questions such as: what are my responsibilities to other members of my family? What are the ethical implications of testing children and adolescents and discussing the test results with them? What are the psychological and social implications of diagnosis of a potentially fatal heart condition or sudden death of a young person? What are the emotional and practical implications of living with cardiac arrhythmias? At the conference, Dr Michael Parker who works as a medical ethicist in the clinical genetics unit at Oxford and also runs an national ethics discussion forum for members of clinical genetics teams (including nurses, counsellor and geneticists) will present some of the main ethical and social issues. The importance of accurate diagnosis Recent research funded by the British Heart Foundation suggests that there may be far more people dying suddenly and unexpectedly than is currently acknowledged. The lead researcher believes these unexplained deaths should be identified in order that they can be studied systematically, and proposes labelling these deaths as Sudden Adult Death Syndrome, SADS. The importance of accurate diagnosis at autopsy and the significance for pathologists and family members of the deceased will be presented.
  2. 2. Who should attend? The conference will be particularly valuable to people living with potentially fatal cardiac conditions, people who have suffered bereavement through suspected fatal cardiac arrhythmia and professionals and agencies who have knowledge and interest in the welfare and support of these people. The format of the conference will take place through presentations and panel/audience debate, followed by workshops. Key Speakers: • Professor Hugh Watkins MD PhD FRCP FmedSci, Professor of Cardiovascular Medicine • Professor A. John Camm QHP, FRCP, FESC, FACC, Professor of Clinical Cardiology • Dr Andrew A. Grace MB BS PhD FRCP FACC, Consultant Cardiologist • Dr Edward Blair BMsc (Hons), MBChB, MRCP (UK), Consultant Clinical Geneticist, • Dr Michael Parker , BEd, PhD,MA, Reader in Medical Ethics, Ethox Centre • Dr Mary Sheppard BSc. M.D., MRCPath, Senior Lecturer/Honorary Consultant in Histopathology Cardiac Arrhythmias, Research and Therapy; A holistic approach Oxford Genetics Knowledge Park, Oxford Radcliffe, Hospitals NHS Trust Oxford GKP is part of a national network of Genetics Knowledge Parks (GKPs) whose aim is to put Britain at the leading edge of advances in genetics, which could transform treatments and services for NHS patients. The GKPs are funded by the Department of Health and the Department of Trade and Industry. The Oxford GKP programme currently focuses on cardiovascular disease (including Sudden Cardiac Death Syndromes) and cancer; two of the leading causes of death in the Western world. Our programme will evaluate whether genetic testing would help in the diagnosis or treatment of patients with these conditions. We will also examine the ethical, legal, social and economic implications of conducting such tests. At the end of the programme we will make recommendations to government about whether genetic tests for these conditions are clinically worthwhile, technically feasible, and acceptable to the general public. SADS UK Mission To save lives and support individuals and families who are predisposed to sudden death due to heart rhythm abnormalities (cardiac arrhythmia). Symptoms to Watch for:- Medical advice should be sought if there is: • Family history of unexpected, unexplained sudden death in a young person • Fainting (syncope) or seizure during exercise, excitement or startle • Consistent or unusual chest pain and/or shortness of breath during exercise How We Help
  3. 3. • Provide educational materials and information packs to patients, doctors, and in the community. • Provide bi-annual conferences, to share information, knowledge and experiences. • Support dedicated volunteers working throughout the UK to promote awareness and educate their communities. • Provide media kits to journalists resulting in increased awareness about disorders causing sudden cardiac death. • Provide counseling and support. What We Do • Family Support : We provide information and support to patients' and families' living with heart rhythm abnormalities (cardiac arrhythmia) that can cause sudden death. • General Awareness/Prevention : We proactively increase the general public's knowledge of the warning signs of heart rhythm abnormalities that can cause sudden death. • Education : We seek to facilitate early diagnosis and treatment of heart rhythm abnormalities by providing healthcare providers with relevant information. • Initiatives/Campaigns: Working with Government Departments, NHS and forming partnerships and alliances with other charities to make improvements in heart care. • Advocacy/Research : We encourage research, advocate for nondiscriminatory treatment, and support efforts that will improve the quality of life for patients with heart rhythm abnormalities. • Volunteers : We provide support and resources for volunteers across the UK that work collaboratively with us to implement SADS UK objectives and achieve our goals. What You Can Do • Donate; SADS UK relies on donations, fundraising and grants to attain our objectives. We hope you can contribute to our life-saving effort. As a SADS UK donor or fundraiser, you will join a community of people committed to preventing sudden cardiac deaths. • Volunteer; SADS UK counts on volunteers throughout the country for creative initiatives that best spread the word about sudden arrhythmic death syndromes (SADS). We have many volunteer opportunities. • Notify; SADS UK of a sudden death of an appear ently fit and healthy person in your community. Oxford Genetics Knowledge Park & SADS UK June 13, 2004 Greetings to all of you from the staff of the SADS Foundation in the States! The progress of our work this last year has been very active, productive and exciting! We give thanks each day to all--from around the world--who have contributed in so many ways to the mission of preventing cardiac events in children and adults who are genetically predisposed to arrhythmias. One of the really fine results of the SADS Foundation's now nearly 12 year efforts has been the subsequent start up of a number of related and/or similar organizations that are assisting in the education, patient care and research efforts in diseases like LQTS. The SADS Affiliates in Australia, Canada and the UK are doing remarkable things and I'm pleased to be attending the SADS UK conference, Cardiac Arrhythmias, Research and
  4. 4. Therapy; A holistic approach. Congratulations to those involved for making a big effort and big impact. SADS UK is working in partnership with other charities as the Arrhythmia Awareness Week Partners to work on a national level with parliament members, and others to establish programs that place some priority on detection and treatment of those at risk for dangerous cardiac arrhythmias at a young age. There are also many examples of organizations that are making a difference and spreading resources throughout the USA. Growing resources in Italy, France, Japan, the Netherlands, Finland, Denmark and elsewhere are giving a focus for families in those countries who want to help with this important work. This broad scale effort is sure to make tremendous progress in saving and improving lives. I very much appreciate the opportunity to participate in SADS Foundation activities around the world and to work with many of you on our mutual goals. It is a great privilege. Again, I thank you all for your many contributions and encourage your continued support. Alice Lara, Executive Director, SADS Foundation Oxford Genetics Knowledge Park & SADS UK In Support of Families Affected by Cardiac Arrhythmia SYNOPSIS - SATURDAY 26 TH JUNE 2004 Welcome and Introduction - Anne Jolly founder of the Ashley Jolly SAD Trust, SADS UK - E-mail: info@sadsuk.org Presentation 1 - Familial Causes of sudden Cardiac Death - Dr Andrew Grace Cardiac arrest due to an arrhythmia is a devastating event. Full investigation is indicated to identify the underlying cause usually found to be coronary artery disease or a structural abnormality of the heart such as cardiomyopathy. Until recently in 5-10% of survivors no cause was found and the episode was labelled as idiopathic ventricular fibrillation meaning a specific underlying condition was not identifiable. The fact that some patients had family members with similar experiences suggested that specific mechanisms would eventually come to light. The recent findings of genetic causes of these very human clinical problems has opened up the possibilities for identifying the basis of both normal and abnormal heart beats. This talk will provide an overview to the molecular physiology of first the normal heart beat and then of arrhythmias and show how genetic alterations lead to abnormalities of the heart rhythm. The long-QT syndrome will form the focus of the talk and Brugada and similar syndromes will also be discussed. The complex diagnosis of these conditions will be briefly covered. The objective is to provide a solid platform as a background for the talks following later in the day. Presentation 2 - Cardiac Arrhythmia Therapy, ICD's, Medication and *Drug-induced Arrhythmia - Professor John Camm *For further information on the Drug-induced Arrhythmia Risk Evaluation Study on 02380 408615, pauline.telfer@dsru.org or via www.dsru.org
  5. 5. The management of cardiac arrhythmias can be broadly divided into pharmacological and non-pharmacological therapies. The most traditional therapy involves the use of specific antiarrhythmic drugs such as quinidine (class 1), beta blockers (class 2), amiodarone (class 3) and verapamil (class 4). In addition to these drugs other medicines that treat the diseases that cause the arrhythmias may also be used: common examples include ACE inhibitors, anti-hypertensive drugs, heart failure treatments, etc. Antiarrhythmic drugs are only partially successful but may suppress arrhythmias for many years. Until recently we had nothing but antiarrhythmic drugs to manage these problems. The medicines have many difficult side effects, which limit their use and general application, but in addition are often not as effective as some of the newer non- pharmacological treatments. There are two main types of non-pharmacological therapy: devices and ablation. Devices include pacemakers and defibrillators. Both of these therapies can be highly effective but also have their disadvantages. Many patients do not like the notion of having electronic devices implanted within their bodies, but most get used to the idea as soon as they discover how very effective they often are. Pacemakers are generally used for patients whose heart rates are too slow - the pacemaker ensures that the heart rate does not fall below a pre-set value. Defibrillators are generally intended to prevent the heart from beating too rapidly. When a fast heart rate occurs they intervene with either shock or a rapid burst of stimulation (like pacing, but at a faster rate). Pacemaker therapy is imperceptible but the defibrillator shock may be felt as a "kick in the chest". Obviously comprehensive successful therapy requires that the defibrillator is not used much! Devices are dramatically life-saving treatments but of cause they are very expensive. Many medicinal products may affect the heart and several of these may cause cardiac arrhythmias. Amongst the worse offenders are antipsychotic drugs, some antibiotics and anti-depressants. Paradoxically, antiarrhythmic drugs may also cause or aggravate arrhythmias. The problem of drug induced arrhythmia is more in patients with underlying heart diseases and in those with inherited problems such as long QT or Brugada syndromes. This problem is best dealt with by proper labelling of drugs, checks by pharmacists, constant vigilance by prescribing physicians and by those patients who are vulnerable taking an active interest in their condition. Drug induced arrhythmia is being actively researched* (see contact details above). Therapy for cardiac rhythm disturbances is outstandingly successful. Many patients can be cured and almost all can be protected from their arrhythmia. However, we need much more resource in the United Kingdom to offer comprehensive care for all patients with arrhythmia. It is very likely that such resources will shortly become available because of the proposed revision of the National Service Framework for "Heart Disease". 11.00 - 11.15 - Coffee Break Presentation 3 - The Importance of Accurate Diagnosis at autopsy and the significance for pathologists and family members - Dr Mary Sheppard E-mail: m.sheppard@rbh.nthames.nhs.uk Introduction Sudden adult cardiac death is due in the vast majority of cases to ischaemic heart disease and a structural abnormality is usually found. Non-ischaemic cardiac causes of sudden death are of major importance because they often include genetic diseases, such as hypertrophic cardiomyopathy, dilated cardiomyopathy and arrhythmogenic right ventricular dysplasia. More recently the concept of the morphologically normal heart in
  6. 6. the setting of channelopathies such as Long Q-T or Brugada's syndromes have come to prominence in sudden death. Ischaemic heart disease predominates as a cause of sudden death in both the UK and USA. In previous UK studies this cause ranged between 59% to 82% of sudden death cases in the community. In both these studies, the rate of unexplained deaths where no cause was found at autopsy ranged from 3.4 % to 4.1%. A recent study completed by group sponsored by British Heart Foundation estimated the incidence of sudden unexplained death of 1.34/100 000 per annum and representing a potential of 500 sudden deaths in England per year. This study advocates identifying these cases by a name, such as Sudden Adult Death Syndrome (SADS) in order to study their aetiology systematically. It is generally accepted that the cause of death is cardiac in these cases. Following these studies, we acted as a referral centre for sudden cardiac death cases from coroners throughout England and have now completed a study on the cases referred for a pathological opinion, often because the referring pathologist was uncertain of the cause of death or was not confident of a specific diagnosis. The process of selection reviewed all cases of sudden death in subjects older than 15 years old and excluded atheroscleroisis coronary artery disease (coronary artery stenosis, coronary atheroma with acute or old myocardial infarction or fibrosis) as a cause of death . This is the first study to evaluate non-atherosclerotic cardiac deaths in the UK population aged over 15 including elderly subjects, involving the majority of Coroners throughout the United Kingdom. Material and Methods From January 1994 to April 2003, all cases of sudden adult cardiac deaths referred to us were entered in a prospective database. Cause of death and additional information when available were retrieved from this database. All these cases had been referred from pathologists and coroners throughout the England . All post-mortem examinations had been requested by the coroners and all deaths happened in the community. Toxicology was negative in all patients. Ischaemic heart disease (coronary artery stenosis, coronary atheroma with acute or old myocardial infarction with fibrosis ) was excluded in all cases. Either H&E sections from the myocardium (51% of cases, between 2 and 10 per case), a single myocardial transverse section of both ventricles (2%) or whole hearts (47%) had been referred. The patient's age, sex, weight and height (when provided), heart weight, thickness of left and right ventricle, and final diagnosis were recorded. Where patient's height and weight were not available, normal cut-off parameters were 500g for heart weight in males and 400 g in females and 15mm for left ventricular thickness. An elastic von Gieson (EVG) stain was performed on selected sections to assess fibrosis. Results were categorised into (a) normal heart (+/- associated diseases), (b) pathologies of the myocardium, (c) inflammatory disorders, (d) non-atheromatous pathology of the coronary arteries and aorta, (e) valvular pathologies and (f) other pathologies. Results In total, 454 cases of sudden cardiac deaths were retrieved from the database. These included 176 women (38.8%) (median = 31 [15-75], and 278 men (61.2%) (median= 32 [15-81]). Two hundred and twenty three (49%) were aged £ 35 years (75 women, 148 men) Presentation 4 - Development of routine clinical testing for Inherited Cardiomyopathies & the Long QT Syndrome - Professor Hugh Watkins & Dr Ed Blair Professor. Hugh Watkins; - hugh.watkins@cardiovascular-medicine.oxford.ac.uk
  7. 7. Dr Ed Blair; - eblair@molbiol.ox.ac.uk Genetic counsellor, Cassie Fraser-Jones; - cassie.fraser-jones@cardiov.ox.ac.uk Over the last decade increasing recognition of the important part that genetics can play in human illness has led to a number of significant advances in the field of cardiovascular medicine. Indeed cardiology has led the way in many areas of human genetic research, including gene identification and the transfer of knowledge from the research laboratory to the clinical setting. A number of genetic conditions are recognised that predispose to an increased risk of cardiac rhythm disturbance and occasionally sudden death (SCD). The commonest of these conditions are known as hypertrophic cardiomyopathy (HCM), long QT syndrome (LQT) and some forms of dilated cardiomyopathy (DCM). Studies of individuals and with these disorders, before the advent of modern molecular genetics, had hinted at a familial pattern to their occurrence. For example studies in the late 1960s and early 1970s of people with HCM were able to show an increased incidence of HCM in close relatives. This finding suggested that genetic factors might play a part in the occurrence of HCM. Similar studies of DCM and LQT although coming later were able to show a similar genetic effect. With the advent of improved diagnostic tools and the new molecular genetic techniques that were being developed, doctors in the late 1980s and early 1990s were able to demonstrate that these conditions generally occurred when an individual had inherited a single genetic spelling change from either parent. This was the beginning of a very fruitful time for scientists working in the field of "heart genetics". It is now known that HCM, DCM and LQT can be caused by a large variety of different spelling changes in a large number of genes. In HCM more than 100 different genetic spelling changes have been documented in over 10 different genes. Similarly many different genes are involved in causing DCM and LQT. Although in any one family there is likely to be only one genetic cause (sometimes even this isn't true!), it is often very difficult to predict which gene will be implicated. For these reasons genetic testing in families where an individual has been diagnosed with HCM, DCM or LQT is very difficult. The British government has recently launched an initiative known as the "Genetic Knowledge Parks" to improve the transfer of genetics knowledge from research laboratories to the clinic, the public understanding of genetics and the availability of genetic testing for those individuals that require it. The Oxford Genetic Knowledge Park will examine a number of areas of human health where genetics is important including those disorders that can predispose to sudden cardiac death. We have (in collaboration with colleges in London) set up the UK's first NHS laboratory molecular genetic testing service for HCM, DCM and LQT, with the aim of developing and delivering a reliable and speedy genetic testing service. But what are the advantages and pitfalls of genetic testing? The diagnosis of heart conditions that can lead to SCD is often difficult and in some circumstances there can be uncertainty whether an individual is affected or not. If a genetic spelling change can be demonstrated in that person then the doctor looking after them can know with certainty that they need to be followed up in clinic. Similarly if a relative of this first patient is shown not to have the same genetic spelling change then they and their doctor can be reassured that they have not inherited the "family heart condition" and may not need to be followed up in clinic. In this way many individuals will escape long-term follow-up in clinic.
  8. 8. The potential downside of genetic testing, for example in relation to life insurance has been well documented in the press. However at present a moratorium has been called and only in exceptional circumstances can an insurance company ask for the results of genetic tests. However we have recognised these dangers and will be accepting samples of DNA (the genetic material) for testing only after the person undergoing the genetic testing has had full and frank discussions about the process with their local clinical genetics team. In this way we hope that everyone enters the testing process fully informed. Of course as I mentioned earlier genetic testing in HCM, DCM and LQT is difficult and there will undoubtedly be circumstances that, even given our best efforts, we cannot identify the genetic spelling change in some families. In these circumstances we will not give up, but transfer the sample to our research laboratory where more detailed analyses can take place. Although such work may take many months, or even years, we feel it worthwhile, for the more we know about the genetics of these conditions the more we may be able to do to alleviate their effects. All the while this work is being undertaken we will carefully monitor the effects (good or bad) that the testing process is having. And of course we will need to hear from you! Presentation 5 - Ethical issues in Research and Genetic Testing into Sudden Adult Death, SAD - Dr Michael Parker E-mail: michael.parker@ethics-and-communication-in-health.oxford.ac.uk Genetic testing and clinical diagnosis of inherited cardiovascular conditions raises a number of important ethical questions both for clinicians and for family members. These include questions such as: what are my responsibilities to other members of my family? What are the ethical implications of testing children and adolescents and discussing the test results with them? What are the psychological and social implications of diagnosis of a potentially fatal heart condition or sudden death of a young person? What are the emotional and practical implications of living with cardiac arrhythmias? Some of the main ethical and social issues will be discussed. SYNOPSIS SUNDAY 27 TH JUNE 2004 Workshops last approximately 1 hour, with the opportunity to attend two workshops on Sunday morning - Please sign up to the workshops in advance Main ethical issues in relation to Genetic Testing - Dr Michael Parker & Cassie Smith Dr Michael Parker is a Reader in Medical Ethics with his particular interest being in ethical issues in day-to-day clinical genetics. His colleague at the Oxford GKP Cassie Smith is a Genetic Counsellor interested in psychosocial aspects of genetic testing. Mike and Cassie are holding an informal workshop where participants are invited to discuss issues in relation to genetic testing. Genetic testing and clinical diagnosis of inherited cardiovascular conditions raises a number of important ethical questions both for clinicians and for family members. These include questions such as: what are my responsibilities to other members of my family? What are the ethical implications of testing children and adolescents and discussing the test results with them? What are the psychological and social implications of diagnosis of
  9. 9. a potentially fatal heart condition or sudden death of a young person? What are the emotional and practical implications of living with cardiac arrhythmias? Mike and Cassie look forward to your participation and to questions that may have arisen from earlier presentations. It is hoped to discuss some of the main ethical and social issues encountered when considering genetic testing. Power of the Pilgrimage - Lin Baldwin & Kate Shepherd E-mail; Baldwinlin8@aol.com Lin Baldwin lives in West Wales and is married to Pete Gosling. They have two beloved children - their daughter Megan who is now 17 and their son Tom who will always be 16 and who died from a cardiac arrhythmia in June 1999. Since Tom's tragic sudden death Lin has been involved with the Ashley Jolly SADs UK Trust. She wrote and published a collection of poems on grief - 'Calling Owls' with the proceeds going to SADs and has fundraised in a variety of ways to purchase heart- monitoring equipment for her local surgery which was presented last year. In April 2003, Lin undertook a Pilgrimage in Northern Spain - The Camino - with three other bereaved mothers including Kate Shepherd from Cornwall whose son, Guy died from SADS in 2001. The four women walked almost 100 miles. In April 2004 Lin and Kate completed their pilgrimage by walking a further 100 miles to Santiago de Compostela. Lin is a support contact for SADS and has talked to many families who have suffered a similar loss and understands too well the shock, devastation and horror that follows the death of a dearly loved child or close family member from this terrible and silent killer. She believes that support and friendship from this community of ' the walking wounded' is a vital aspect of surviving our grief and despair. Lin holds a Masters degree in Education and is a specialist support teacher working with secondary pupils with a variety of learning difficulties. One of her concerns is that 'death education' is not on the curriculum and bereavement support for young people in schools is often patchy, of too short a duration or non-existent. Lin's ambition is 'to leave this world with nothing left to use up' and consequently works hard, travels as much as she can afford, writes, reads voraciously and lives as fully as she is able to with a broken heart. 'I'm not saving myself for a rainy day - it's raining now. One of the consequences of Tom's death for me has been to realise that not much matters and some things don't matter at all. I think I've found what matters - love, friendship, making a difference in the world however small and to keep on going. I kind of believe that Tom is with me every step I take. It's a hard, rough road but I just put one foot in front of the other - and take lots of coffee breaks!' Cardiomyopathy - Stephanie Cruickshank and Robert Hall Cardiomyopathy Nurse Specialist, Stephanie Cruickshank and Robert Hall, the Medical Director of the Cardiomyopathy Association, CMA, will be holding a workshop to discuss Cardiomyopathy.
  10. 10. The workshop will start with a short presentation giving an overview of the different types, presentation, treatment and diagnosis of Cardiomyopathy. This will be followed by a group discussion and the opportunity to ask questions that arise. Living with ICD's -Win Bell and Louise Power Facilitator Win Bell is a Specialist Nurse in Electrophysiology at the Manchester Heart Centre, Manchester Royal Infirmary. Win's duties include the preparation and on going support for patients receiving Internal Cardioverter Defibrillators (ICD's) and their families. Her colleague Louise Power has been living with an ICD since 1988 and is Chair of St George's ICD Patient Support Group. Win and Louise will be assisted in the workshop by Electrophysiologist Nurses, Jayne Mudd & Angela Hall from James Cooke Hospital, Middlesborough and Jeanette Hornsey from Wythenshawe Hospital, Manchester; their combined knowledge and experience will make this a very interesting and informative workshop. The workshop is an opportunity to discuss different aspects of ICD's. There may be questions arising from earlier presentations and debate to be addressed. The following frequently asked questions may be addressed:- What is an ICD and what will it do for me? What effects will an ICD have on the day to day life of my family? What precautions are necessary when living with an ICD? What needs to be avoided? What does the implantation procedure entail and how long will I take to recover? We hope for a collaborative workshop, splitting into smaller groups if appropriate to discuss and feedback thoughts, feelings and questions for further consideration. 12.45 - Lunch - Barbecue in quadrangle (Waterside Restaurant if weather is inclement) 'Cardiac Arrhythmias, Research and Therapy; A holistic approach' Faculty in order of Presentation - Panel/Audience Debate & Workshops Dr Andrew A. Grace, MB BS PhD FRCP FACC; Consultant Cardiologist, Papworth Hospital. Hon. British Heart Foundation Senior Research Fellow, Department of Biochemistry University of Cambridge. The research undertaken by Dr Grace and his team is aimed at improving the management of the members of high-risk families through a better understanding of the genetics and physiology of these disorders. Professor A. John Camm QHP FRCP FESC FACC; Professor John Camm became chair of Clinical Cardiology at St George's Hospital in 1986. He is chairman of the Department of Cardiovascular Sciences and the Division of Cardiological Sciences and past Chairman of the Dept. of Medicine at St George's Hospital. Professor Camm is particularly interested in clinical cardiac electrophysiology, cardiac arrhythmias and implantable devices for rhythm control. Professor Camm has held many distinguished positions and he is currently Convenor of Medicine, University of London and Chairman of the Joint Cardiology Committee, Royal College of Physicians. He has travelled extensively and is recognised internationally for his research and teaching. Professor John Camm is Patron to SADS UK and President of the Arrhythmia Alliance
  11. 11. Dr Mary Sheppard, MB BCH BAO BSc MD FRCPath; Senior Lecturer/Consultant in the Department of Histopathology, National Heart and Lung Institute Royal Brompton Hospital, London. She is a recognised Teacher at the University of London and Imperial College School of Medicine and postgraduate course organiser of the National Heart and Lung Institute. Mary developed an interest in cardiac pathology under the guidance of Professor Michael Davies. She has published 100 papers, 2 books, 30 book chapters on both pulmonary and cardiac pathology. Her special interest lies in sudden cardiac death. Professor Hugh Watkins, MD PhD FRCP FmedSci; Head of the Department of Cardiovascular Medicine at the University of Oxford and Honorary Consultant at the John Radcliffe Hospital. Research focuses on identifying the molecular basis of inherited heart disease and on putting these advances into practice, for example through the Genetics Knowledge Park programme. Dr Edward Blair; BMsc (Hons) MBChB MRCP (UK); After completing general medical training Dr Edward Blair specialised in Clinical Genetics in Oxford. He developed a special interest in cardiovascular genetics whilst undertaking work for a MD on the genetic basis of inherited Cardiomopathy. As well as continued basic science research, this interest has developed with the transfer of molecular genetic studies of Cardiomyopathy and LQT into the clinical laboratory, which aims in collaboration with colleges in the GKPs, to provide a structured molecular diagnostic service for the UK. Dr Michael Parker, BEd PhD MA; Reader in Medical Ethics, The Ethox Centre, University of Oxford and Honorary Clinical Ethicist at the Oxford Radcliffe Hospitals Trust, providing ethics support and education in the clinical setting, particularly in clinical genetics. Mike directs the ethical, legal and social science programme of the Oxford Genetics Knowledge Park and has a particular interest in ethical issues in day-to-day clinical genetics and in the ethical issues arising out of sharing genetic information in families. Mike is Associate Editor of the Journal of Medical Ethics and a member of the ethics committee of the Royal College of Physicians. Nurse Win Bell, BSc(Hons), SRN, SCM; Specialist Nurse in Electrophysiology at the Manchester Heart Centre, Manchester Royal Infirmary. Win's duties include the preparation and on- going support for patients receiving Internal Cardioverter Defibrillators (ICD's) and their families. She is one of the founder members of the National ICD Support Group. Cassie Smith, Genetic Counsellor, Oxford Genetic Knowledge Park; Cassie graduated from University of Wales, College of Medicine with an MSc in Genetic Counselling in January 2003. Her primary role in the GKP is to assist in the transfer of information from the research lab to the clinical setting, through the development of a genetic counseling service for people affected by, and those at risk of, inherited cardiomyopathies and the Long QT Syndrome. Cassie is interested in the psychosocial aspects of genetic testing for these conditions, and will develop a research project investigating themes and issues relevant to cardiovascular genetic counselling. Louise Power - Louise is Chair of St; George's Hospital ICD Patient Support Group and a Patient Representative on the newly formed National ICD Support Group. Louise had her first ICD implanted in 1988. She didn't meet anyone else with an ICD for many years so when she heard that St George's was forming a patient support group she was very keen to participate and became a founder member. Louise works as freelance art consultant and is studying for a diploma in counselling. Louise lives in North London with her husband and daughter. Stephanie Cruickshank is a Cardiomyopathy Nurse Specialist working with Professor William McKenna's clinical team at the Heart Hospital, London, and also as the nurse
  12. 12. specialist for the Cardiomyopathy Association (CMA). Stephanie has many years experience of working with cardiomyopathy patients and their families. She first became involved in the Cardiomyopathy Association when she was diagnosed with hypertrophic cardiomyopathy after surviving a cardiac arrest 14 years ago. Anne Jolly, Adv.Dip Counsellor, BACP, Critical Incident Debriefer National Council of Psychotherapists; Anne founded the Ashley Jolly SAD Trust, SADS UK after the sudden and unexpected death of her son Ashley at the age of 16yrs. She believes more resources should be made available to help identify cause of death at post-mortem. Anne believes assessing how these types of deaths are classified is crucial in obtaining more accurate statistics in order to validate the resources that need to be ploughed into the area of sudden cardiac death. Lin Baldwin; holds a Masters degree in Education and is a specialist support teacher working with secondary pupils with a variety of learning difficulties. One of her concerns is that 'death education' is not on the curriculum and bereavement support for young people in schools is often patchy, of too short a duration or non-existent. Kate Shepherd; Kate is an artist and enjoys using her artistic talents. She took time to do some sketching on her recent Pilgrimage in Northern Spain. Medical Glossary Acquired Long QT syndrome - a similar condition to Inherited Long QT syndrome, except the electrical abnormalites are not genetic, but caused by medications, strokes, and chemical imbalances in the body, among others. AED - Automatic External Defibrillator (see Defibrillator) Arrhythmia - an abnormal heart rhythm Arrhythmogenic Right Ventricular Dyplasia ARVD - a familial (runs in families) cardiomyopathy. Progressive damage to the right ventricle muscle Atria - the upper chambers in the heart, they receive blood from the veins and store it prior to each heartbeat Autosomal dominant - a genetic term, referring to the mode of transmission of the genetic trait from a parent to a child. Autosomal means that it is non-sex linked, so both males and females inherit the gene equally. Dominant means that a person who inherits just one abnormal copy of the gene (all people have two copies of each gene) manifests the trait. The gene is "dominant" so that only one copy is necessary to exhibit the trait. Beta blocker - a class of drugs that block beta receptors, chemical receptors in the body that effect a particular physiologic action. Beta-blockers relieve the stress on the heart by slowing the heartbeat and lessening the force with which the heart contracts therefore reducing blood vessel contraction in the heart and throughout the body. They are used to treat abnormal cardiac arrhythmias, angina pectoris, hypertension, and the prevention of migraines. Bradycardia - slow heart rate (less than 60 bpm) Brugada Syndrome - a genetic condition that affects the electrical system of the heart and renders affected individuals susceptible to sudden cardiac death. In this condition
  13. 13. the deaths tend to occur to adults between ages 20 and 40 years. It is usually evident on the electrocardiogram, but no abnormalities are detected at autopsy. Cardiomyopathies - A cardiomyopathy is a disease of the heart muscle, and predisposes patients to sudden death from heart rhythm abnormalities. Cardiomyopathies are common causes of sudden cardiac death in the young as well as adults. The diagnosis is usually evident during life and at autopsy. There are a variety of causes. . The most common form is known as hypertrophic cardiomyopathy, or known as Hokem or HCM. This condition has been thought to be the most common cause of unexpected sudden death in athletes. Catacholaminergic ventricular tachycardia - A genetic condition affecting the electrical system of the heart, with no specific abnormalities on the routine electrocardiogram, and none at autopsy, to assist in the diagnosis. Affected patients are prone to very fast heart rhythms and sudden death. Chromosome - the filament-like structures in the nucleus of each cell that contain the genetic material. Genes are located on the chromosomes Congenital - meaning present at birth Defibrillation - a process in which an electrical shock is administered to the heart to stabilise an irregular heartbeat or restore a normal heart beat after cardiac arrest Defibrillator - a device that delivers an electrical shock to the heart in order to restore normal heart rhythm or to start the heart beating after a cardiac arrest. These particular devices are designed to convert the life-threatening arrhythmia, ventricular fibrillation, to a normal rhythm. There are internal, implantable defibrillators (ICD) which require a surgical procedure; external defibrillators, machines that are used by paramedics and other medical personnel, in which an electrical shock is applied to the chest through paddles and automatic external defibrillators (AED) designed to be used by the general public. Depolarization - that part of the electrical cycle of a cell, including heart cells, in which the electrical signal is discharged. This is just like discharging a battery. ECG (EKG) - these two abbreviations are the same. They stand for electrocardiogram. The ECG is a measure of the electrical activity of the heart Electrophysiologist - a cardiologist or scientist whose specialises in the electrical activity of the heart. Clinical electrophysiologists are Cardiologists who deal with patients who have electrical abnormalities. Familial - The term familial may be used when the condition is inherited or it is anticipated there may be a genetic link. Fibrillation - a rapid uncoordinated heart rhythm that can originate in either the atrium or the ventricle of the heart Gene - the area on chromosomes that contains the genetic signals for everything that happens in the body, including our physical structure and our chemical and physiological make up. It is currently estimated that each person has approximately 100,000 genes on our 46 chromosomes.
  14. 14. Genetics - inherited characteristic and the science dealing with the interaction of the genes in producing similarities and differences between individuals related by descent Genotype - a term that refers to the specific gene which causes a disease process. In Long QT syndrome, five different genes have been discovered to cause Long QT syndrome when mutations occur in those genes Hypertrophic Cardiomyopathy (HCM) - heart muscle thickening occurs without any apparent cause ICD - Internal Cardioverter-Defibrillator ( see Defibrillator ) Idiopathic - a term which means the cause is unknown Idiopathic Ventricular Tachycardia - a fast heart rhythm that has no known cause Inherited Long QT syndrome - A genetic condition affecting the electrical system of the heart, often abbreviated as LQTS. Individuals with this condition are at risk for serious heart rhythm abnormalities (arrhythmias) that can lead to loss of consciousness, cardiac arrest and sudden cardiac death. These events most commonly occur in children and young adults. It is a common cause of unexplained sudden death in the young. No abnormalities are evident at autopsy. It is usually recognised by an abnormality on the electrocardiogram known as a prolonged QT interval. Ion channel - a protein structure in many cells, including heart cells, through which chemical particles known as ions pass. The passage of these ions effects changes in the cell. In Long QT syndrome, the disease is caused by abnormalities of ion channels. Jervell Lange-Nielsen - a form of Long QT syndrome associated with severe deafness at birth. In this rare form of Long QT syndrome, both parents pass the defective gene to their child. Modifier genes - these are genes that modify other genes and gene processes. It is assumed that there are genes that modify the effect of the Long QT syndromes genes, and help to produce the diverse presentation of patients with Long QT syndrome. Neurocardiogenic Syncope - ( see vasovagal syncope ) Pacemaker - an electrical device that is placed into the body to regulate the heart rhythm. Palpitation - the patient feels an abnormal heart rhythm in the chest, this may be racing, fluttering fast arrhythmia or a slow heavy rhythm. Pedigree - a family health history diagrammed with a set of international symbols to indicate the individuals in a family, their relationships to one another and those with a disease or syndrome etc. Phenotype - a term that describes the observable manifestations of our genetic makeup. For example, eye color is a phenotype, such as blue, brown, hazel, etc. QT Interval - a time duration measured from the electrocardiogram Repolarization - a complementary term to depolarization. Depolarization is the discharging of an electrical circuit, and repolarization is the re-charging of that electrical
  15. 15. circuit so that the circuit can be discharged again. The depolarization of heart cells causes the heart to beat. Right and left bundle branch - the heart contains electrical wires which transmit the electrical signal rapidly and precisely throughout the heart muscle. This is necessary to assure uniform and very rapid discharging (depolarization) of heart muscle cells, in order to provide a uniform contraction of the heart muscle. The two 'electrical wires' that transmit electricity quickly to the right and left ventricles of the heart are the right and the left bundle branches. Romano Ward Syndrome - one of the forms of Long QT syndrome, named after Drs. Romano and Ward, two physicians who independently described Long QT syndrome families. Romano Ward Syndrome is the most common form of Long QT syndrome, making up well over 95% of families and subjects with Long QT syndrome. Seizure - an electrical disturbance of the brain. It leads to alterations of consciousness and often to motor movements, sometimes confused with Long QT syndrome loss of consciousness. Seizures come in a variety of forms. Most recognised is the "grand mal" which is associated with loss of consciousness, rhythmic jerking of the extremities, often biting of the tongue and drooling at the mouth. Another common form is "petite mal" which does not have much in the way of motor movements but is manifest by transient loss of consciousness. Syncope - the medical term for loss of consciousness or fainting. Usually reserved for loss of consciousness due to alterations of the blood pressure, heart rate, heart rhythm, etc. Syndrome - the occurrence, in combination of a number of symptoms that are characteristic of a particular ailment or condition Tachycardia - a fast heart rhythm, usually above 100 bpm Torsades Des pointes - a French term, literally meaning "turning about a point", which describes the visual characterization of the heart rhythm which is typical for the Long QT syndrome Vasovagal syncope (event) - a physical event which is usually associated with loss of consciousness, and is due to excessive discharging of the vagal nerves in the body, part of the parasympathetic nervous system. These events cause a discharge of the vagal nerves, leading to a slowing of the heart rate and a lowering of the blood pressure. They cause dizziness, blurring of the vision, and often loss of consciousness. A vasovagal event is the most common cause of fainting. They are sometimes confused with Long QT syndrome events, and Long QT syndrome events are sometimes misdiagnosed as vasovagal events. Ventricle - a chamber of the heart that receives blood from the atrium and pumps it into the arteries Ventricular fibrillation VF or V-Fib - a disorganized fast rhythm of the lower chambers, it is often the cause of sudden death Ventricular tachycardia VT or V-Tach - this arrhythmia causes a high (200/300bpm) heart beat which prevents the ventricles filling correctly, this effectively stops the heart pumping and is potentially life threatening. The tachycardia generally starts from the edge of scar tissue from a previous heart attack.
  16. 16. Wolff-Parkinson-White (WPW) Syndrome - this is a particular form of PSVT that can be life-threatening, the electrical signal short-circuits and bypasses the AV node, this causes the QRS complex to become abnormal. The WPW Syndrome has been associated with sudden death in young people.