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LIFE WITH INHERITED ABNORMAL HEART RHYTHMS

I’m training to be a children’s nurse I want to help people like me I’m looking towards my future I live with an inherited heart condition SHANNON’S STORY, PAGE 36

In association with

Contents

INTRODUCTION 02 Author UNDERSTANDING YOUR HEART 05 Dr Elijah R Behr MD The normal heart 06 Reader and Consultant 12 26 Types of inherited abnormal heart rhythm 08 Electrophysiologist,

St George’s Hospital and INHERITED ABNORMAL HEART RHYTHMS 11 University of London Long QT syndrome (LQTS) 14 Published by Cardiac Risk 20 in the Young (CRY) and the Catecholaminergic polymorphic ventricular British Heart Foundation. tachycardia (CPVT) 22 Progressive cardiac conduction defect (PCCD) 23 Short QT syndrome (SQTS) 24 Familial atrial fibrillation 24

TESTING AND YOUR FAMILY 25 Implications of a diagnosis of an inherited abnormal heart rhythm for a family 28 Assessment at a clinic for inherited heart conditions 29

EVERYDAY LIFE 35 36 General lifestyle advice 38 Medicines and drugs to avoid 39

TECHNICAL TERMS 47 MORE INFORMATION 51 INDEX 53

This booklet is not a substitute for the The illustrations used in this booklet are advice your doctor or cardiologist (heart artistic impressions and are not intended specialist) may give you based on his or to accurately depict the medical material her knowledge of your condition, but that they represent. it should help you to understand what they tell you.

01 Life with Inherited abnormal heart rhythms Introduction

You may be reading this booklet because An abnormal heart rhythm – known as an you’ve been diagnosed with an inherited arrhythmia – is when your heart is beating abnormal heart rhythm. Or maybe someone too fast, too slow, or with an irregular pattern. else in your family has been diagnosed with an Some arrhythmias can be inherited, which abnormal heart rhythm, and your doctor has means they’re passed on through families. suggested that you should have some tests to They can affect one or several members of the find out if you’ve inherited the same condition. same family and can be life-threatening and cause sudden death. This is why it’s important that families who are affected receive an accurate assessment, diagnosis, treatment and support from specialists in a clinic for inherited heart conditions.

02 03 Life with Inherited abnormal heart rhythms Understanding your heart

This booklet: We explain the medical and technical terms as we go along but, if you find a • describes how the normal heart works word you don’t understand, look it up in UNDERSTANDING the list of Technical terms on page 47. • explains what can go wrong with your heart when you have an inherited We hope that this booklet will help you YOUR HEART abnormal heart rhythm to understand your condition and to come to terms with what it means for • explains why it’s important that close your close family. If you need further blood relatives of someone who has support or information, see page 51. been diagnosed with certain abnormal heart rhythms should have an assessment to find out if they have inherited the same condition

• describes the tests your doctor may ask you and your close family to have

• offers advice on how to live a healthy lifestyle if you are found to have an inherited abnormal heart rhythm.

04 05 Life with Inherited abnormal heart rhythms Understanding your heart

• The electrical impulses then pass THE NORMAL HEART to the ventricles through a form of ‘junction box’ called the AV node (atrio- The heart is a specialised muscle that ventricular node). This causes contracts regularly and continually, the ventricles to contract and pump pumping blood around your body. blood out of your heart. The pumping action of your heart is caused by a flow of electricity through • The blood from the right ventricle the heart that repeats itself in a cycle. If goes through the pulmonary artery to this electrical activity is disrupted – for your lungs, and the blood from the left example, by an arrhythmia – it can affect ventricle goes through the aorta and your heart’s ability to pump properly. then around your body. SA node (sino-atrial node) How the heart functions electrically The speed of your heart’s pacemaker • Your heart has four chambers – two and the force of the pumping action AV node Left atrium at the top (the atria) and two at the of the ventricles are also controlled (atrio-ventricular bottom (the ventricles). by nerves that regulate your heart by node) releasing certain chemicals that circulate • The normal trigger for your heart to in your blood. For example, adrenaline contract starts in the heart’s natural Right atrium increases your heart rate and the volume pacemaker, the SA node (sino-atrial Left ventricle of blood pumped out of your heart. node), which is in the right atrium (see the diagram on page 07). Right ventricle

• The SA node sends out regular electrical impulses, which make the atria contract and pump blood into the ventricles.

= Direction of blood flow

= Electrical impulses coming from the SA node

06 07 Life with Inherited abnormal heart rhythms Understanding your heart

Other conditions where an ion If there’s a mistake in one of these In your heart, the movement of ions in TYPES OF INHERITED channelopathy may be found include: codes, your cells may not work as they and out of heart muscle cells controls should do. These mistakes are known the heart’s electrical impulses. This ABNORMAL HEART • Idiopathic (IVF) as gene mutations or gene faults. allows you to produce a heartbeat. Certain gene mutations will cause an RHYTHM • Early repolarisation syndrome (ERS). ion channelopathy. They are usually • Heart muscle cells are activated by the flow of ions in a process known Some abnormal heart rhythms are For more information on diagnosing inherited from your parents, although as depolarisation. This allows them to caused by a group of uncommon conditions like these, see pages 25-34. they can occur for the first time in a conditions known as ion channelopathies. family. If they occur for the first time in a contract and produce a heartbeat. These conditions can cause life- If you’ve been diagnosed with an ion single family member they are described • A later flow of ions allows heart threatening disturbances in your heart’s channelopathy you’ll need to have a as ‘sporadic’. In some cases, a person may muscle cells to return to rest after electrical system, known as arrhythmias. specialist assessment so that your doctor inherit a gene mutation, but not show contraction, through a process known can treat your condition appropriately. any symptoms of the genetic condition. as repolarisation. This gets your heart Ion channelopathies affect the This is very important, as if left untreated, However, these people are still able ready for another heartbeat. electrical functioning of your heart. ion channelopathies can increase your to pass the gene mutation on to their There are several different types of risk of sudden death. children and are known as ‘carriers’ of Conditions that can occur as a result ion channelopathies including: the condition. of an ion channelopathy It can be difficult for you and your family If the ion channels in your heart don’t • Long QT syndrome (LQTS) to come to terms with the need to have an Some mutations affect certain genes behave normally, you’re at risk of assessment and to deal with the results. • Brugada syndrome that are responsible for the production developing dangerous arrhythmias For information on where to get emotional of ‘ion channels’ in your heart. which can lead to blackouts, cardiac support in coping with any aspect of the • Catecholaminergic polymorphic arrest and in some cases sudden death. ventricular tachycardia (CPVT) diagnosis and assessment see page 51-52. • An ion is a chemical substance – such as sodium or potassium – that carries An ion channelopathy can increase What causes an ion channelopathy? • Progressive cardiac conduction an electrical charge and forms the basis the risk of developing ventricular Ion channelopathies are caused by defect (PCCD) of the movement of electricity through arrhythmias that affect the ventricles, abnormalities in an individual’s genetic your heart muscle. the lower pumping chambers of the • Short QT syndrome (SQTS) make-up. Each one of us has our own heart. The two main types of ventricular genetic information that makes us • An is a gateway that allows arrhythmias are ventricular tachycardia • Familial atrial fibrillation. unique. Your genes make you who you ions to pass in and out of your cells. and ventricular fibrillation. are, for example what colour your hair is, We describe each of these on For example, a is an your blood type and your gender. This pages 11-24. ion channel that allows potassium ions genetic information is held in your DNA, to pass in and out of your cells. in the cells of your body. Your genetic information acts as a code that allows a system of proteins to be created. This tells all of the cells in your body what their function should be.

08 09 Life with Inherited abnormal heart rhythms Inherited abnormal heart rhythms

Ventricular tachycardia – or VT for short – occurs when the electrical signals in the ventricles become disorganised and INHERITED ABNORMAL take over the heartbeat independently from the SA node. This leads to a rapid heartbeat. VT can cause HEART RHYTHMS to fall to a dangerously low level, and lead to a cardiac arrest.

Ventricular fibrillation – or VF for short – is a fast heart rhythm which causes your heart to ‘fibrillate’, or quiver, instead of pumping blood around your body. This is a cardiac arrest.

While ion channelopathies cause electrical disturbances in the heart, the structure of the heart remains normal. This means they can’t be detected after someone has died (post-mortem). If someone dies suddenly, and no other cause can be found, this is termed Sudden Arrhythmic Death Syndrome (SADS). Ion channelopathies are thought to be the cause of around four in every ten cases of SADS. For more information see page 51 and the BHF booklet Sudden Arrhythmic Death Syndrome.

10 11 Life with Inherited abnormal heart rhythms Inherited abnormal heart rhythms

I’m a busy mum My condition KELLEY’S doesn’t stop me It won’t stop STORY my son either I was diagnosed with long They put me to sleep I live with an QT syndrome as a child, and when I came round, inherited heart but I didn’t let it beat me. they took me to see him. condition Growing up, I rode horses He was amazing. and went swimming. But Jayson had an ECG the day after I left school I started he was born. I was told he to have blackouts and I had long QT syndrome had to have an ICD fitted. when he was just one day I tested positive for two old. He started gene mutations for long QT straight away. It was syndrome, so when I became terrifying finding out he pregnant I knew my son had the condition, but I Jayson could have inherited like to get on with life – I’d the condition. Jayson was like Jayson to pick up on four days late and I had an that and learn not to let his emergency C-section when condition stop him doing his heart rate dropped. what he loves.

12 Life with Inherited abnormal heart rhythms Inherited abnormal heart rhythms

In people with potassium channel- The diagrams below show the flow LONG QT related LQTS the ion channels do not of potassium and sodium ions in and behave as efficiently as normal. They out of the heart’s cells. The thick arrow SYNDROME (LQTS) let potassium ions out of the cell too represents too much flow. The thin LQTS is the most common and best slowly. If the is affected, arrow represents a reduced flow. understood type of ion channelopathy. too many sodium ions are allowed into the cell (see the LQTS diagram on the Normal heart • It occurs in as many as one in next page). This results in an electrical In a normal heart, potassium flows out 2,000 people. disturbance in the cells of your heart of the cell to repolarise the heart (see called ‘prolonged repolarisation’ (see page 09), and sodium flows into the • For seven in every ten people with page 09). This means that the heart cells cells to activate the heart. LQTS, the ion channels involved have in your ventricles take longer to recharge been identified. after each heartbeat. Sodium Channels Potassium Channels

• In most cases, two potassium channels This can sometimes be seen on an that regulate the movement of Outside electrocardiogram (ECG) recording as a cell potassium ions from the inside to the lengthening of a part of the heartbeat outside of cells are affected. cycle known as the QT interval. This is Inside • In a smaller proportion of people with where the name long QT syndrome cell LQTS, sodium or calcium channels comes from. For more information on are affected. having an ECG test, see page 30. LQTS In people with LQTS, the flow of potassium is usually reduced. In some people with LQTS, the flow of sodium may be increased.

Sodium Channels Potassium Channels

Outside cell

Inside cell

14 15 Life with Inherited abnormal heart rhythms Inherited abnormal heart rhythms

What are the different types of LQTS? The most common type of LQTS is What are the symptoms of LQTS? a person is asleep or when the person There are currently 13 known types known as Romano-Ward syndrome. LQTS varies greatly in severity. has been startled or awoken suddenly of LQTS. The type of LQTS you have Rarer forms of LQTS include: Symptoms vary according to: (sudden arousal). depends on which gene mutations you inherit and whether you inherit • Andersen’s syndrome • the ion channel involved If you have Andersen’s syndrome you may also have muscle weakness or a gene mutation from one or both of • Timothy syndrome • whether you’re male or female your parents. minor abnormalities of the skull, chin, fingers and toes. Children with Timothy • Jervell and Lange-Nielsen (JLN) • your age syndrome. syndrome usually have many other • the length of the QT interval on problems that are present from birth and Each type is associated with different your ECG. make it easier to diagnose the condition. ion channels abnormalities, which are People with JLN syndrome also have shown in the table below. Males are more likely to have symptoms hearing loss from birth. before puberty, while females are more likely to have them in adolescence and How is LQTS diagnosed? early adulthood. Relatives from the Diagnosis involves having an ECG (see same family who have inherited the page 30). Sometimes experts can tell same mutation may have very different which ion channel has been affected experiences. For example, you may have: just by looking at your ECG recording. Ion channels affected Unfortunately, diagnosis can be very • a normal QT interval and not have difficult and many people with the Type of LQTS Potassium Sodium Calcium any symptoms condition will have a normal ECG. Repeated ECGs, exercise tests, 24–48 channels channels channels • a very abnormal QT interval but hour Holter monitoring and adrenaline no symptoms testing may be needed before any hint Romano-Ward syndrome X X X • a very abnormal QT interval and have of the condition is seen. Even then there many episodes of arrhythmia that put may be no clear sign of the condition. We Andersen’s syndrome X you at risk. describe all these tests on pages 30-34. The most common symptom of LQTS Genetic testing can sometimes identify Jervell and Lange-Nielsen X is blackouts, caused by an arrhythmia. carriers of LQTS (see page 34). However, (JLN) syndrome Sometimes palpitations due to extra or three in every ten people diagnosed ectopic heartbeats can be a problem. with LQTS do not have gene mutations Timothy syndrome X Some types of LQTS are associated with known to be associated with LQTS. sudden death related to exercise, when

16 17 Life with Inherited abnormal heart rhythms Inherited abnormal heart rhythms

Many families who do have a gene Medicines • one, two or three electrical leads For more information on pacemakers, mutation appear to have a specific The first line of treatment is with known as electrodes that deliver see our booklet Pacemakers. To order change in their DNA code which is not medication. The most commonly used electrical impulses to the heart muscle. our booklets see More information found in other families. This change is medicines are beta-blockers. These block on page 51. known as a ‘private’ mutation. This can the effects of adrenaline and associated Pacemaker make it difficult to decide whether a natural chemicals in your body that A pacemaker can prevent your heart ICD gene mutation is causing the disease make your heart pump harder and faster. from beating too slowly by ‘pacing’ your An ICD monitors your heart rhythm or not. Things are further complicated They therefore also block the effects of heart to make your heart rate faster. A through electrodes placed into by the fact that people with the same exercise on your heart. They are effective pacemaker works by: your heart. If it detects a dangerous mutation can be affected by the in the most common forms of LQTS, as arrhythmia it can deliver a small electrical • monitoring and storing information shock to restore your heart’s normal condition differently, with varying they reduce your symptoms and most about your heart rhythm and heart rate degrees in severity. All of this can make importantly your risk of sudden death. rhythm. This is called shock therapy. An ICD can deliver the following treatments: it difficult for doctors to decide on the • sending electrical impulses to your Recent advances in anti-arrhythmic best way to treat people with LQTS. That heart that stimulate it to contract. This • sending electrical impulses to your is why it’s recommended that you get an medicines may provide new treatment helps to control your heart rate and options. These medicines block the heart that stimulates it to contract expert medical opinion from a clinic that stop any excessive slowing of your (in the same way as a pacemaker) specialises in inherited heart conditions. disturbances in your heart rhythm that heart that could trigger an arrhythmia. can cause sudden death. However, the • cardioversion – one or more small How is LQTS treated? long-term benefits of these treatments Most pacemakers are set to work on electric shocks to restore your heart’s The treatment you’ll need depends on are unknown. Potassium supplements demand – they monitor your heart and normal rhythm your risk of sudden death. People at the may also be prescribed by your doctor only deliver an electrical impulse if your greatest risk of sudden death are those and have been successful in some cases. heart has missed a beat, or if it’s beating • defibrillation – one or more larger with one or more of the following features: too slowly. Some pacemakers send out electric shocks to get your heart back Cardiac devices impulses all of the time and are known into a normal rhythm. • a previous cardiac arrest If you’re at high risk of sudden death as fixed rate pacemakers. (for example if you have already had a An ICD is slightly larger than a • blackouts cardiac arrest) or if medication has failed A pacemaker is usually implanted pacemaker and may be positioned to control your symptoms, your doctor • a very long QT interval on the ECG just under your left collarbone. This above or under the chest wall muscle may advise you to have a pacemaker or procedure usually takes about an below your left collar bone. The • young adult women an implantable cardioverter defibrillator hour and is normally done with a procedure may take between one to (ICD) fitted, as well as taking your local anaesthetic and mild sedation. three hours. Most people have a local • certain gene mutations medicine. The pacemaker battery usually lasts anaesthetic and mild sedation, but between six and ten years (and some may have a full (general) • having more than one gene mutation. A pacemaker and an ICD consist of: sometimes even longer), but you anaesthetic. The ICD battery lasts Children who are most at risk tend to • a small metal box called a pulse should have regular check-ups. between four and eight years, but be young boys before puberty, and girls generator, containing a battery you should have regular check-ups. who are passing into puberty.

18 19 Life with Inherited abnormal heart rhythms Inherited abnormal heart rhythms

A new type of ICD called a subcutaneous Normal heart What are the symptoms of ICD – or SICD for short – is more suitable BRUGADA SYNDROME In a normal heart, potassium flows out of Brugada syndrome? for some people. An SICD works in the the cell to repolarise the heart (see page Some people with Brugada syndrome Brugada syndrome affects mainly young same way as an ICD, but there are no 09), and sodium flows into the cells to have no symptoms at all. Others may and middle-aged adult men. It is not a leads inserted into the heart. Instead, activate the heart. have palpitations, blackouts or even a common condition in the western world, a lead is inserted just under the skin sudden cardiac arrest (which can lead but seems to be much more common in of your chest (on the outside of your to sudden death). South East Asia. Sodium Channels Potassium Channels ribcage). The metal box is usually placed How is Brugada syndrome diagnosed? below your left armpit. For one in every five people with Outside Diagnosis involves having an ECG (see Brugada syndrome, a sodium channel cell For more on ICDs, see our booklet page 30). The changes characteristic is affected by a gene mutation. This Implantable cardioverter defibrillators of Brugada syndrome may appear on causes the channel to restrict the Inside (ICDs). To order our booklets see More your ECG continuously or come and go, movement of sodium ions into the cell cell information on page 51. or they may not show at all. Having a (see the Brugada syndrome diagram fever can sometimes unmask your ECG on the next page). Surgery changes. In some cases, changes on the Another option is to perform surgery These diagrams show the flow of Brugada syndrome or PCCD ECG may only be seen if the ECG leads to disrupt the nerves that release potassium and sodium ions in and In people with Brugada syndrome that are normally placed over the middle adrenaline and related chemicals into out of the heart’s cells. The thin arrow or PCCD (see page 23), the flow of of the chest (known as V1 and V2) are your heart. This is known as cervical represents a reduced flow. sodium into the heart cells is reduced. placed higher up on the chest wall sympathectomy or cardiac denervation. (known as the high V1 and V2 leads). It involves operating on the left side of your neck and blocking or removing Sodium Channels Potassium Channels If your ECG appears normal, a the nerves. provocation test can be used to make Outside the ECG changes associated with Advice on physical activity for people cell Brugada syndrome visible (see page 32). with LQTS During the test, you’ll receive an injection If you have LQTS, your doctor will advise Inside of a small amount of an anti-arrhythmic you to avoid excessive exercise or cell medicine while having an ECG. The strenuous athletic activities. See General medicines most commonly used for this lifestyle advice, on page 38. are and . However, ECG changes may still not be seen and you may need to have further tests.

20 21 Life with Inherited abnormal heart rhythms Inherited abnormal heart rhythms

Genetic testing is not very useful for If you’re a carrier and you get a fever What are the symptoms of CPVT? If you’re at high risk of sudden death, diagnosing Brugada syndrome, because or high temperature, you should take Some people with CPVT have no you may need to have an ICD fitted (for gene mutations are found in only a small paracetamol or to help lower symptoms at all. Others may have more on ICDs, see page 19). You may proportion of people known to have it. This is because having a fever seems palpitations or blackouts. In some also be considered for surgery to disrupt the syndrome. to increase your risk of developing an cases, sudden death may occur when the nerves that release adrenaline and arrhythmia. If the fever persists you the person is exerting themselves or related chemicals into your heart. This How is Brugada syndrome treated? may need further treatment and close suffering emotional stress. is known as cervical sympathectomy There is a risk of sudden death for monitoring in hospital until it settles. or cardiac denervation. It involves people with Brugada syndrome, which The condition can affect children and operating on the left side of the neck is greatest in adult males and most often seems to cause more blackouts in males and blocking or removing the nerves. happens during sleep or when resting. than in females. It’s therefore common practice for CATECHOLAMINERGIC people at high risk of sudden death to POLYMORPHIC How is CPVT diagnosed? have an ICD fitted. For more information If you experience symptoms, your PROGRESSIVE on ICDs, see page 19. Medication to treat VENTRICULAR doctor will refer you to a specialist who CARDIAC Brugada syndrome may be possible will do an exercise test and possibly in the future, thanks to promising TACHYCARDIA (CPVT) an adrenaline test. These tests use an CONDUCTION research on two drugs, and ECG that records your heart’s electrical CPVT is a rare condition which causes a rhythm whilst you are exercising or DEFECT (PCCD) hydroquinidine. However, these drugs particular type of arrhythmia – known are not licensed for use in the UK. receiving a slow adrenaline injection as ventricular tachycardia (see page 10). (see provocation tests on page 32). PCCD – also known as Lev-Lenègre’s If you have an abnormal ECG but It is found mainly in children and young syndrome - is a rare condition. In don’t have any symptoms, it can be people, and has been associated with Genetic testing is also useful if a member people with PCCD, the heart’s electrical very difficult to determine your risk gene mutations in two genes. These of your family has been found to carry impulses pass through the heart very of sudden death and decide what genes make proteins known as: a gene mutation and is showing the slowly and over time this can lead to treatment you should have. An EPS signs of the condition. This can identify heart block. Heart block is a failure of the • the human ryanodine receptor members of the same family that carry heart’s electrical impulses to conduct (electrophysiological study) may help (a calcium ion channel) your doctors decide whether you need the same gene mutation and are at risk properly from the top chambers – the an ICD or not. Research suggests that • calsequestrin (a protein that interacts of developing CPVT. atria – to the bottom chambers – the ventricles. The severity of the condition people who have a normal ECG and with the channel). How is CPVT treated? no symptoms should be safe without and its associated risk can vary. These proteins help to regulate the Your doctor will advise you to take beta- having any treatment. It is unusual for blockers (a type of medicine) and to PCCD can also cause other types of children to be at high risk. level of calcium inside your cells. If they don’t work correctly, the level of calcium restrict the amount of exercise you do. This arrhythmias, including: combination greatly improves the outlook inside your cells becomes too high, • slow heart rhythms () resulting in ventricular tachycardia. for people with CPVT. Sometimes another medicine called flecainide is useful if beta- • fast heart rhythms (tachycardias). blockers cannot control your arrhythmia.

22 23 Life with Inherited abnormal heart rhythms Testing and your family

In some people, PCCD has been associated with sodium channel SHORT QT mutations that cause changes in ion channel behaviour similar to those SYNDROME (SQTS) found in people with Brugada syndrome This is a very rare condition where the QT TESTING AND (see the diagram on page 21). interval is shorter than normal (see page 14 for information on the QT interval). What are the symptoms of PCCD? SQTS may cause dangerous arrhythmias YOUR FAMILY Some people with PCCD have no and even sudden death. As in LQTS, symptoms at all. Others may have potassium channels are affected, but with episodes of dizziness or blackouts, and SQTS too much potassium is allowed to sudden death may also occur. flow out of the cells. If you have SQTS, How is PCCD diagnosed? your doctor may prescribe you the anti- Arrhythmias characteristic of PCCD may arrhythmic medicine quinidine to treat be detected either on a standard ECG your condition. Some people may also or with 24-hour Holter monitoring. An need to have an ICD fitted. For more on electrophysiological study (EPS) may also ICDs, see page 19. help your doctor make a diagnosis. (We describe all these tests on pages 25-34.) FAMILIAL ATRIAL If a sodium channel mutation is identified in affected members of a FIBRILLATION family, genetic testing may also be used to find the same gene mutation in other Atrial fibrillation is the most common close blood relatives. type of arrhythmia in the general population. In a small number of people, How is PCCD treated? atrial fibrillation is inherited and happens If you have PCCD, you will need to have at a much younger age than usual. This is a pacemaker fitted in order to stop called familial atrial fibrillation. In people your heart rate from dropping too low. with familial atrial fibrillation, gene However, this does not prevent your mutations can be found in: heart from beating too quickly, so you may also need to take anti-arrhythmic • potassium ion channel genes that can medicines. Some people may need to cause too much potassium to flow out have an ICD fitted. (For more information of the cells on pacemakers and ICDs, see page 19.) • sodium channel genes that can reduce Medication alone does not appear to help. the flow of sodium into the cells.

For more information on atrial fibrillation, see the BHF booklet Atrial fibrillation.

24 25 Life with Inherited abnormal heart rhythms Testing and your family

I’ve got a great set of friends It helps to KEVIN’S have someone to talk to My condition STORY won’t stop me The first sign of my heart The cardiologist asked me a condition was when I lot of questions, especially I live with an collapsed. I’d been having about my blackouts. They told inherited heart headaches and had a high me that my ECG test showed condition temperature, so I went to that I had a genetic condition see my doctor. I think I was called Brugada syndrome. in the waiting room when I I felt like my world had been blacked out, but I woke up blown apart and for the first in the back of an ambulance. year, Brugada syndrome I had an ECG test and was dominated my life. But I kept in hospital overnight got a lot of support from for monitoring before being my family and friends and sent home. I became stronger. I don’t A short time later, I think about my condition was asked to make an nearly as much now, and I’m appointment with the still moving forward. hospital cardiac team.

27 Life with Inherited abnormal heart rhythms Testing and your family

that you are at very low risk. The people ECG changes can become more obvious IMPLICATIONS at highest risk are those who have with age in children (especially during ASSESSMENT symptoms, or have already had a cardiac puberty) and young adults. Unless a OF A DIAGNOSIS arrest, or have significant abnormalities genetic test has ruled out the possibility AT A CLINIC FOR OF AN INHERITED on their ECG. of having an inherited heart condition, INHERITED HEART it’s important that children and young ABNORMAL HEART What if you show no signs of an people are tested again when they’re CONDITIONS inherited heart condition? older to ensure they’re not affected. RHYTHM FOR A FAMILY In families where someone has been Below we describe what happens when diagnosed with an ion channelopathy If you develop new symptoms (for someone has an assessment at a clinic If you’re a close blood relative of a and the remaining family members example blackouts or seizures) this could for inherited heart conditions. person who has been diagnosed are tested, about one in every four be a sign of an underlying condition, with an ion channelopathy, it’s highly Medical history families show no sign of an inherited even if it has not been detected recommended that you have an It’s vital that a clear medical history of heart condition. This can be due to before. You’ll need to be re-checked assessment at a specialist clinic for you and your family is established. Your two reasons: immediately at your nearest accident inherited heart conditions to find out doctor will want to know: and emergency department and must if you have inherited the same medical The person diagnosed may not have let your GP and cardiologist know so • if any medical conditions affect you or condition. On pages 29-34 we describe inherited any abnormality from their that urgent follow-up can be arranged. your family, including your parents and all the tests that you may be offered as parents. Either that person was the first possibly your grandparents part of the assessment. to develop a gene mutation in the family If a recognised gene mutation is found in (and therefore their children are the only a member of your family and you don’t If you’re deciding whether to go for • if you’ve ever had symptoms such as relatives who are at risk), have the same gene mutation, you can an assessment or not and need more blackouts, palpitations or seizures be assured that you are not affected by information, or if you don’t know where or the same condition. • if there have been any sudden deaths to go for the assessment, call the BHF in your family, including any cot deaths. Genetic Information Service on Some family members may have a gene 0300 456 8383. mutation but show no signs of any disease. It’s impossible to give 100% What if you’re diagnosed with an reassurance that a relative is not a carrier, inherited heart condition? except in cases where genetic testing If you’ve been diagnosed with one of has shown that a specific gene mutation the conditions described in this booklet, causing a condition is not shared by you should have regular follow-ups – other family members. However, people whether you decide to receive treatment who don’t have any symptoms or signs or not – unless your doctor believes are at low risk of sudden death.

28 29 Life with Inherited abnormal heart rhythms Testing and your family

Medical examination and tests Signal-averaged ECG NON-INVASIVE Holter monitoring NON-INVASIVE Implantable loop recorder Many people with an ion channelopathy This is an ECG that adds together the Also called ambulatory ECG Also called an ILR don’t have any visible physical signs electrical readings from at least 250 This test involves using a small digital When it’s difficult to assess or record of their condition. In a medical heartbeats so that any very subtle device that you wear on a belt round a symptom because it only happens examination, your doctor will: variations can be seen – for example, if your waist. Four or six ECG leads from infrequently – as with blackouts – an the electrical impulses in the heart are the device are taped to your chest. The implantable loop recorder (or ILR for • listen to your heart and lungs with being conducted more slowly. It is useful device records the electrical activity short) can be used. The device, which a stethoscope for diagnosing Brugada syndrome. of your heart for 24 to 48 hours, or is the size of a packet of chewing gum • take your blood pressure for up to seven days. The doctor can or smaller, is placed under the skin at Exercise test NON-INVASIVE then analyse the electrical activity and your left shoulder. You’ll need to go Also called a stress test • do an ECG to check your heart’s rhythm rhythm of your heart to find out if you into hospital as a day case to have this This test is the same as the ECG and rate. have any arrhythmias, for example, the done. A small cut about 2cm long (just described above, but is recorded before, arrhythmias typical of LQTS and CPVT. less than one inch) is made and the Your doctor will also suggest that during and after a period of time spent device is inserted. The device monitors you have some of the tests we exercising on a treadmill or an exercise Cardiomemo and cardiac event your heart’s rhythm and can record any describe below. bike. This allows the doctor to examine recorders NON-INVASIVE abnormal events that it’s programmed any changes in the electrical patterns These are more sophisticated versions to detect. If anything happens, you just NON-INVASIVE Tests marked with that occur with exercise, and analyse any of the 24-hour Holter monitoring test place a special small box on the surface this symbol are ‘non-invasive’, which abnormalities. This test is particularly described above. Whenever you have of your skin over the ILR. You can then means that the test does not involve useful in detecting some of the features an episode of symptoms, you can activate the device by pressing a button penetrating the skin or body. that are characteristic of LQTS or CPVT. activate the device to record your on the box, which makes the ILR record heart’s rhythm. The advantage of the ECG NON-INVASIVE the preceding few minutes of your Cardiopulmonary exercise cardiomemo is that it doesn’t have any Also called an electrocardiogram heart’s activity. The device can then test NON-INVASIVE leads, so you can just place it on your This is the most basic test. Small sticky be ‘interrogated’ by a computer at the This test analyses the efficiency of your chest when you get symptoms. patches called electrodes are put onto heart muscle by measuring the amounts hospital and your doctor can examine your chest, and sometimes your arms and of oxygen your body uses during exercise. the recording. The device can remain in legs. These are connected by wires to an You will be asked to breathe into special place for up to three years if necessary. ECG recording machine. This picks up the equipment while you’re exercising. If the electrical activity that makes your heart efficiency of your heart is low, this may beat. If the first ECG does not show any suggest that you have cardiomyopathy abnormalities it can be repeated later. (a disease of the heart muscle).

30 31 Life with Inherited abnormal heart rhythms Testing and your family

Provocation tests Echocardiogram NON-INVASIVE Coronary angiogram and Tilt-table test Also called ajmaline, flecainide or Also called an echo electrophysiological study (EPS) If you get episodes of dizziness or adrenaline tests This test uses ultrasound waves to Depending on the results of the tests blackouts, your doctor may recommend You may be asked to have an ajmaline look at the structures of your heart. It’s described above, your doctor may that you have a tilt-table test to find out or flecainide test if your doctor suspects useful for people whose ECG shows suggest that you have other tests if this is caused by: Brugada syndrome or an adrenaline changes that could be caused by a heart such as a coronary angiogram or an test if your doctor suspects CPVT condition that has damaged your heart electrophysiological study (EPS). • common conditions – such as vasovagal or LQTS. During these tests, you’ll – for example, a previous heart attack syncope (see page 50) – which tend to have an ECG whilst being given an that you may not have even been aware A coronary angiogram involves having a affect young women and girls but have injection of ajmaline or flecainide (anti- of. An echocardiogram can also detect local anaesthetic in your wrist or groin, a very low risk of causing sudden death arrhythmic medicines) or adrenaline. other types of structural heart disease where a catheter (a thin flexible tube) will be passed into your artery. Using • one of the ion channelopathies These medicines can unmask ECG such as cardiomyopathy and mitral mentioned in this booklet. changes associated with some ion valve prolapse. an X-ray machine, the catheter will be channelopathies. directed through your blood vessels This test can bring on your symptoms Cardiac magnetic resonance scan and into your heart. A special dye will under controlled conditions to help your A fine plastic tube is inserted into a vein Also called an MRI scan then be passed through the catheter doctor make a diagnosis. in your arm. The medicine is injected This is a special kind of scan used to and a series of X-rays taken. This through the tube for about five to ten examine the structure of your heart and can show up any narrowed areas or In this test, a fine plastic tube is inserted minutes and you will be monitored for the nature of its muscle. At the start of blockages in your arteries that could into a vein at the front of your elbow. 20 minutes or a few hours afterwards, the test you may need to have a special be caused by coronary heart disease, This is in case your doctor needs to depending on the medicine used. dye (contrast medium) injected into a which can sometimes produce similar give you any medicines during the vein in your arm. A magnetic resonance ECG changes as those seen in Brugada test. You will lie flat on a special table, However, there is a risk, as one in every scanner will then create intense syndrome or LQTS. while your blood pressure and ECG 200 Brugada syndrome carriers or fluctuating magnetic fields around your are monitored. The head of the table their immediate blood relatives have a body while you’re inside the scanner. An EPS (electrophysiological study) uses is then raised to an angle of 60 to 90 potentially life-threatening arrhythmia This generates the signals that make the same technique to place electrical degrees and monitoring is continued. during the injection. The test is therefore up the pictures produced. It may be leads inside your heart. These leads If nothing happens, a medicine called always performed with appropriate useful for detecting the presence of fat analyse your heart’s electrical activity GTN is sprayed under your tongue. This facilities to protect patients from this and scarring in the heart muscle that is and can help trigger an arrhythmia. This will make your heart rate a little faster risk. Ajmaline is preferable to flecainide associated with cardiomyopathies. test may be useful in diagnosing PCCD, and your blood pressure a little lower to as it remains in the body for a shorter and for deciding what treatment to give help reproduce your symptoms. You’ll period of time. people with Brugada syndrome. continue to be monitored and after another 10 to 15 minutes, the table will be returned to the flat position. The whole test takes around 45 minutes.

32 33 Life with Inherited abnormal heart rhythms Everyday life

If your blood pressure falls at the same time as you suffer your usual symptoms, this means that you have vasovagal EVERYDAY syncope or a related condition. Genetic testing LIFE In most of the ion channelopathies, mutations of specific genes have been detected and are thought to cause a specific disease. Identifying one of these gene mutations in someone who has been diagnosed with an arrhythmia can help diagnose an ion channelopathy. However, as we don’t know all of the genes and mutations involved in each condition, genetic testing does not always help. For example, only seven in every ten people known to have LQTS have mutations of identified genes.

34 35 Life with Inherited abnormal heart rhythms Everyday life

I’m training to be a children’s nurse SHANNON’S I want to help people like me I’m looking towards STORY my future I was diagnosed with me. I used to be a competitive CPVT two months before gymnast and dancer, and I I live with an my 15th birthday. loved all sports at school from inherited heart condition I’d been having seizures netball to rugby. Overnight since I was nine and was all that was gone. told I had epilepsy, but But I’m not alone. My whole my symptoms started to family was tested to see if get worse. I went for some they had CPVT and my dad tests and had a resting ECG tested positive. He’s basically and a 24-hour ECG, but on the same treatment they didn’t show anything plan as me and takes the unusual. It was only when same medication. I had an exercise test that Having a heart condition the problem with my heart is always in the back of was picked up. my mind – but I’m in I was given information about control of my condition CPVT and was told to restrict now. I’m a teenager, not exercise. Giving up sport was a heart condition. one of the hardest things for

36 Life with Inherited abnormal heart rhythms Everyday life

Vomiting and diarrhoea Medicines which people with long QT GENERAL In people with long QT syndrome or MEDICINES AND syndrome should avoid Brugada syndrome, a drop in the levels For people with long QT syndrome, there LIFESTYLE ADVICE of potassium in the blood can cause DRUGS TO AVOID are specific medicines that can have Exercise a serious deterioration in the person’s Anyone with a condition affecting the a serious effect by further prolonging For many people with an arrhythmia, condition. Any prolonged vomiting heart that can cause sudden death the QT interval. We give a list of these exercise can trigger your symptoms. or diarrhoea (lasting more than a needs to take extra care with medicines. medicines below. This list includes Competitive sports and high intensity day) can cause a significant loss of All medicines, both those prescribed by medicines that can stimulate and irritate activities will often need to be avoided, potassium in the blood – a condition your doctor and any you buy over the the heart. This list may not be complete but normal exercise regimes are usually called hypokalaemia. If this happens, counter, must be checked by your GP so, before taking any new medicine, recommended as part of a healthy it’s important that you get rehydrated, or cardiologist as some can increase the check with your GP or cardiologist that lifestyle. Getting individual exercise using a salt and sugar preparation such risk of life-threatening heart rhythms. they’re suitable for you. as Dioralyte. (You can buy this at your advice that is specific to you and your * = Medicines which have been unlicensed, condition is important, especially for local pharmacy, or you may be able withdrawn or suspended in the UK market. young people that may need help in to get a prescription for it from your understanding their physical limitations doctor). If vomiting prevents you taking and how to engage in safe exercise. this, you should go to hospital to receive appropriate fluids through a drip. It’s While you should avoid high intensity best to get your GP to arrange this, activities, you should also be but if this is not possible you should Drug group Avoid completely Close monitoring and conscious of any symptoms during go to your nearest accident and professional supervision rest and at night, as deaths due to emergency department. required if medicine is ion channelopathies such as Brugada absolutely necessary syndrome and sodium channel LQTS can Anti-anginals and * also occur at night and during sleep. If vasodilators * you have one of these conditions, your * doctor can advise you what to do if * anything happens, and may encourage you to buy a home defibrillator. (If Anti-arrhythmics ajmaline* cibenzoline* someone has a cardiac arrest, this Class I * flecainide machine may be able to return the heart pirmenol* to a normal rhythm by delivering an quinidine* electrical shock through the chest wall.)

38 39 Life with Inherited abnormal heart rhythms Everyday life

Drug group Avoid completely Close monitoring and Drug group Avoid completely Close monitoring and professional supervision professional supervision required if medicine is required if medicine is absolutely necessary absolutely necessary

Anti-arrhythmics * Anti-fungals chloroquine fluconazole Class III halofantrine* * pentamidine * voriconazole * d-* Anti-malarials chloroquine ersentilide* halofantrine* * pentamidine * sematilide* Others amantadine sotalol cotrimoxazole terikalant* foscarnet trimethoprim sulfa Anti-cancer arsenic trioxide geldanamycin* octreotide Psychiatric sunitib Phenothiazines * tacrolimus tamoxifen Serotonin reuptake citalopram Anti-histamines * inhibitors * ebastine* paroxetine sertraline Anti-hypertensives indapamide venlafaxine moexipril/ zimeldine* hydrochlorthiazide anti-depressants * Anti-microbials azithromycin Macrolides * * spiramycin telithromycin Fluoroquinolones moxifloxacin gatifloxacin* sparfloxacin* gemifloxacin* protriptyline* grepafloxacin* levofloxacin trimipramine

40 41 Life with Inherited abnormal heart rhythms Everyday life

Stimulants Drug group Avoid completely Close monitoring and Some cold remedies contain some professional supervision required if medicine is of the following medicines and drugs, absolutely necessary which should also be avoided, so it’s important always to check the label: Others droperidol* lithium • adrenaline (epinephrine) • norepinephrine (noradrenaline) maprotiline • • phentermine mesoridazine • dobutamine • phenylpropanolamine quetiapine • dopamine • pseudoephidrine risperidone • ephedrine • ritodrine

Serotonin agonists * granisetron • fenfluramine • salbutamol (albuterol) and antagonists dolasetron ondansetron • isoprenaline (isoproterenol) • salmeterol ketanserin* • metaproterenol • sibutramine Other medicines to alfuzosin • midodrine • terbutaline. avoid levomethadyl* amantadine methadone chloral hydrate For the latest information on medicines probucol clobutinol* and drugs for people with LQTS to avoid, felbamate* visit www.qtdrugs.org galantamine organophosphates* perflutren lipid microspheres (echocardiographic contrast) tizanidine vasopressin

42 43 Life with Inherited abnormal heart rhythms Everyday life

Medicines which people with Below is a list of the medicines that Brugada syndrome should avoid people with Brugada syndrome should In people with Brugada syndrome, a avoid. Always check new medicine with number of medicines may make the your GP or cardiologist before you take condition worse. For example, certain it, as this list cannot be guaranteed to anti-arrhythmics, all beta-blockers and be complete. some anti-depressants are known to increase the risk of symptoms.

Drug group Medicines to avoid Drug group Medicines to avoid

Alpha adrenergic agonists methoxamine Ergot ergonovine noradrenaline First-generation anti-histamines dimenhydrinate Anti-arrhythmics All to be avoided including: Class 1 ajmaline Local anaesthetics cibenzoline disopyramide Nitrates isosorbide dinitrate flecainide nitroglycerine Opioid analgesics propoxyphene procainamide propafenone Parasympathetic agonists acetylcholine

Anti-depressants Phenothiazine cyamemazine Tetracyclic anti-depressants maprotiline

Tricyclic anti-depressants All to be avoided, including: Potassium channel activators amitriptyline clomipramine Selective serotonin fluoxetine desipramine reuptake inhibitors nortriptyline Other medicines intoxication Beta-blockers All to be avoided, especially and drugs to avoid cocaine lithium propofol blockers For the latest information on medicines and drugs for people with Brugada syndrome to avoid, visit www.brugadadrugs.org

44 45 Life with Inherited abnormal heart rhythms Technical terms

TECHNICAL TERMS

A B

Anti-arrhythmic medicines A group of medicines used to regulate A slow heart rate. and control your heart’s rhythm.

Aorta C The large artery (blood vessel) leading out of the left side of your heart and Cardiac arrest supplying your whole body with blood. When a person’s heart stops pumping blood around the body and they stop Arrhythmia breathing normally. This is fatal if the An abnormal heart rhythm. heart’s normal rhythm is not restored within a few minutes. Atrium One of the two top chambers of your Cardiologist heart. (The plural of atrium is atria.) A doctor specialising in diseases of the heart. AV block See ‘heart block’. Cardiomyopathy A disease of the heart muscle. AV node Atrio-ventricular node. A group of cells Cardiopulmonary exercise test in your heart found between the top An exercise test that monitors the chambers (atria) and bottom chambers consumption of oxygen, using a set (ventricles). It regulates the transmission of breathing tubes. of electrical impulses from your heart’s natural pacemaker in the atrium to the Cervical sympathectomy ventricles. If the impulses from the A form of surgery that is useful for some atrium become too fast, the AV node people with LQTS. It reduces the amount helps to prevent your heart from of adrenaline and related chemicals pumping too fast. delivered to your heart by certain nerves (the left cervical ganglia).

46 47 Life with Inherited abnormal heart rhythms Technical terms

D H Ion channel P The route that ions take in and out Defibrillator Heart block of your heart muscle cells to allow Pacemaker A device that can be used if a person When the electrical impulses sent by the movement of electricity. An electronic device which takes over has a cardiac arrest. It may be able to atria to the ventricles are delayed or are the role of your heart’s natural return the heart to a normal rhythm by blocked. Ion channelopathy pacemaker and regulates the rhythm of delivering an electrical ‘shock’ through A condition caused when ion channels your heartbeat. It is usually implanted the chest wall. Holter monitoring in the cells of your heart do not work just under your left collarbone. A 24-hour recording of an properly. They can affect the electrical DNA electrocardiogram (ECG). functioning of your heart and may be The genetic code from which proteins life-threatening if not treated. Q ’the building blocks of life’ are made. We all receive a copy of half of each of our I QT interval A lengthening of the time period of a parents’ DNA when the egg and sperm Implantable cardioverter defibrillator M meet to conceive a new human being. particular part of your heartbeat cycle, (ICD) Mitral valve as seen on an ECG. A metal electronic device similar to a The valve on the left side of your heart, E pacemaker. It is implanted under the between the atrium and ventricle. chest wall muscle below your left S Ectopic beat shoulder. It can regulate the rhythm of Mitral valve prolapse An early (premature) or extra heartbeat your heartbeat and, if a dangerous When a mitral valve is floppy and leaks. Sino-atrial node which can occur, disrupting your heart’s arrhythmia occurs, it can deliver an The heart’s natural pacemaker. normal rhythm. The majority of people electrical shock to your heart to restore Mutation A mutation or ‘mistake’ in the DNA code Sudden Arrhythmic Death who have ectopic beats are unaware the normal heart rhythm. Syndrome (SADS) of them. that causes its eventual product (usually Ion a protein) to function abnormally, which A death is described as sudden when it A chemical substance (such as sodium or in turn is responsible for a disease. occurs unexpectedly, spontaneously G potassium) that carries an electrical and/or even dramatically. Some deaths charge and forms the basis of the will be unwitnessed or occur during Gene movement of electricity through your sleep, while others occur during or A segment of DNA responsible for the heart muscle. immediately after exercise (exercise- production of a specific substance such related sudden death). as a protein, which in turn is essential for a particular characteristic or function in your body.

48 49 Life with Inherited abnormal heart rhythms More information

MORE INFORMATION Implantable cardioverter defibrillators (ICDs) (HIS19) For information on your nearest clinic ICD – your quick guide (G967) for inherited heart conditions Syndrome Living with a pacemaker(HIS15) A collection of medical features of an BHF Genetic Information Service (GIS) illness that make it a distinctive condition. Greater London House Pacemaker – your quick guide (G968) 180 Hampstead Road Losing someone to heart disease (G419) London NW1 7AW T Sudden arrhythmic death syndrome Phone: 0300 456 8383 Tachycardia Website: bhf.org.uk (M111A) A fast heart rate. The BHF GIS can provide you with Heart rhythms (HIS14) information and support if someone in Medicines for my heart (HIS17) V your family has been diagnosed with, or has died from, a suspected inherited Tests for heart conditions (HIS9) Vasovagal syncope heart condition. This includes supporting A disorder of the nerves supplying the Atrial fibrillation (HIS24) you and your family by helping you get blood vessels and heart that can result in an expert assessment in a specialist clinic dizzy episodes, blackouts and fainting. Atrial fibrillation – your quick guide that deals with inherited heart conditions. This is due to a sudden drop in blood (G963) pressure and heart rate, which means To find out more about our work on To order any of these booklets: less blood is able to reach the brain. It is inherited heart conditions and the usually harmless, although blackouts research we fund, visit • call the BHF Orderline may place the person in dangerous bhf.org.uk/research on 0300 200 2222, or situations. Treatment can involve medicines and/or a pacemaker. BHF publications • email [email protected], or

Ventricles The following booklets will give you • visit bhf.org.uk/publications The two bottom chambers of your heart. more information on making changes to your lifestyle and reducing your risk of Our resources and services are free of Ventricular diseases of the heart and circulation. charge, but we rely on donations to From, or belonging to, the ventricle. continue our vital work. If you’d like to make a donation, please call our donation hotline on 0300 330 3322 or visit our website at bhf.org.uk/donate

50 51 Life with Inherited abnormal heart rhythms Index

FOR MORE SUPPORT INDEX ON COPING AS A G activity 20, 23, 38 genetic testing 28, 29, 34 A FAMILY WITH Andersen’s syndrome 16, 17 H angiogram 33 hypokalaemia 38 assessment for inherited cardiac conditions 08, 28, 29 AN INHERITED I AV node 06, 07 ICD 18, 19, 20 ABNORMAL HEART B ILR 31 Brugada syndrome 20, 21, 22, 27, 44 implantable cardioverter defibrillator 18, 19, 20 RHYTHM C implantable loop recorder 31 calcium channel 14, 16, 22 ion channel 08, 09 Cardiac Risk in the Young – CRY cardiac event recorder 31 J 1140B The Axis Centre cardiac magnetic resonance scan 32 Jervell and Lange-Nielsen (JLN) syndrome 16, 17 cardiomemo 31 Cleeve Road L cardiomyopathy 30, 32 Leatherhead KT22 7RD lifestyle advice 38 cardiopulmonary test 30 long QT syndrome 12, 14-20, 38, 39 catecholaminergic polymorphic ventricular Phone: 01737 363222 LQTS 12, 14-20, 38, 39 tachycardia 22, 23, 36 Email: [email protected] channelopathy 08, 09, 28 M Websites: clinic for inherited cardiac conditions 28, 29, 51 magnetic resonance scan 32 www.c-r-y.org.uk coronary angiogram 33 medicines 18, 39, 44 www.sads.org.uk cot death 29 medicines to avoid 39, 44 CPVT 22, 23, 36 mitral valve prolapse 32 MRI scan 32 D CRY offers help, support and counselling mutation 09, 28, 29, 34 to families where there has been a defibrillator 18, 20, 38 diagnosis 28 N sudden cardiac death of an apparently normal heart 06, 07 E fit and healthy young person. ECG 30 P echocardiogram 32 pacemaker 18, 19 Cardiac Risk in the Young ectopic beat 17 PCCD 21, 23, 24 myheart Network electrophysiological study 33 potassium channel 09, 14, 15, 16, 21 CRY’s myheart network offers help, EPS 33 private mutations 18 support and information to young exercise 20, 23, 38 Progressive cardiac conduction defect 21, 23, 24 provocation test 32 people who are coping with a exercise test 30 Q diagnosis of a heart condition. F Familial atrial fibrillation 24 QT interval 14, 17, 39 family 08, 09, 25, 28, 29 Website: www.myheart.org.uk R Romano-Ward syndrome 16, 17 Contact details as above.

52 53 Life with Inherited abnormal heart rhythms

About the British Heart Foundation About Cardiac Risk in the Young The British Heart Foundation is the nation’s Cardiac Risk in the Young is a charity that: heart charity, saving lives through pioneering S • Aims to reduce the frequency of young research, patient care and vital information. SA node 06, 07 sudden cardiac death by working with SADS 10, 52 What you can do for us cardiologists and family doctors to establish sodium channel 15, 21 We rely on donations to continue our vital good practice and appropriate screening structural heart disease 32 work. If you would like to make a donation to facilities to promote and protect the cardiac Sudden Arrhythmic Death Syndrome 10, 52 the British Heart Foundation, please call our health of our young. surgery 20, 23, 52 donation hotline on 0300 330 3322, visit • Off ers bereavement support to those who symptoms 17, 21, 23, 24, 28, 29 bhf.org.uk/donate, or post it to us at the have suffered a loss, through a network of T address below. Thank you for supporting affected families and counselling. tilt-table test 33 our fight. Timothy syndrome 16, 17 • Offers support to those young people There are lots of other ways that you can help treatment 08, 18, 22, 23, 24, 28 diagnosed with cardiac conditions. us. Go online at bhf.org.uk to find out how. • Publishes and distributes medical information Have your say written by leading cardiologists for the We would welcome your comments to help us general public. produce the best information for you. Why not let us know what you think? Contact us through • Promotes and develops heart screening our website at bhf.org.uk/contact or write to programmes and funds medical research. us at the address below. • Funds fast track services at the CRY Centres British Heart Foundation for Sports Cardiology, Cardiac Pathology and Greater London House Inherited Cardiovascular Conditions at leading 180 Hampstead Road London hospitals. London NW1 7AW bhf.org.uk Cardiac Risk in the Young 1140B The Axis Centre Heart Helpline Cleeve Road 0300 330 3311 Leatherhead KT22 7RD (a similar cost to 01 and 02 numbers) www.c-r-y.org.uk For information and support on anything heart-related. Genetic Information Service 0300 456 8383 (a similar cost to 01 and 02 numbers) For information and support on inherited heart conditions.

54 At the British Heart Foundation, we’ve pioneered research that’s transformed the lives of people living with heart and circulatory conditions. Our work has been central to the discoveries of vital treatments that are changing the fight against heart disease. Cardiac Risk in the Young supports young people diagnosed with potentially life-threatening cardiac conditions. We promote and develop heart screening programmes and fund medical research to help reduce the risk of young sudden death. But so many people still need our help. Join the British Heart Foundation and Cardiac Risk in the Young in our fight for every heartbeat in the UK. Every pound raised helps to make a difference to people’s lives.

Cardiac Risk in the Young. Registered charity number 1050845. © British Heart Foundation 2018, registered charity in England and Wales (225971) and in Scotland (SC039426). Print code: M111B/0418