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This page is intended for anyone interested in learning more about the heart condition hypertrophic cardiomyopathy. It has been produced in consultation with doctors, other medical staff and those with the condition. It seeks to answer many of the questions and concerns of patients and their relatives.
Medical terms which describe the condition, and which might be encountered in conversations with doctors, are included and explained in the text. In addition, words in italics are explained in a glossary at bottom of the page. The Cardiomyopathy Association encourages comments to improve the information it supplies. If you have further questions, please contact us on freephone 0800 018 1024 or by emailing info@cardiomyopathy.org
The term cardiomyopathy is purely descriptive, meaning disease of the heart muscle. There are four main types of cardiomyopathy: hypertrophic (HCM), dilated (DCM), restrictive (RCM) and arrhythmogenic right ventricular (ARVC).
The main feature of HCM is an excessive thickening of the heart muscle (hypertrophy literally means to thicken) in the absence of an apparent cause. Heart muscle may thicken in normal individuals as a result of high blood pressure or prolonged athletic training. In HCM, however, the muscle thickening occurs without obvious cause.
In addition, microscopic examination of the heart muscle shows that it is abnormal. The normal alignment of muscle cells is absent and this abnormality is called myocardial disarray. (Figure 1)
Figure 1
Myocardial disarray
These diagrams contrast the regular, parallel alignment of muscle cells in a normal heart with the irregular, disorganised alignment of muscle cells or myocardial disarray found in some parts of the heart in HCM.
History and other names
Hypertrophic cardiomyopathy was first recognised in the late 1950s. The condition has been known by a number of names including hypertrophic obstructive cardiomyopathy, (abbreviated HOCM), idiopathic hypertrophic sub-aortic stenosis (abbreviated IHSS) and muscular sub-aortic stenosis. The general term hypertrophic cardiomyopathy (HCM) is now most widely used. How common is hypertrophic cardiomyopathy? Recent studies have suggested that HCM is more common than previously reported. It is now estimated that approximately 1 in 500 of the UK population suffers from the disease. What is the cause? In the majority of cases the condition is inherited, although in other cases there is either no evidence of inheritance or there is insufficient information about the individual’s family to assess inheritance. In affected families the condition may pass from one generation to the next. The pattern of inheritance is called autosomnal dominant (see figure 2) and the condition may be passed on from affected males and females. The disease does not skip generations. However, in some people its manifestation may be very mild. If a parent has HCM, his or her child child will have a 50% chance of inheriting the condition. Occasionally excessive thickening of the heart muscle occurs as part of other diseases, such as mitochondrial disorders or Fabry’s disease. These conditions are rare and sometimes treatable.
Generation
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FIGURE 2 |
A Family Tree
This family tree shows four generations affected by HCM. The condition is transmitted from one generation to the next without skipping a generation. This is called dominant inheritance. Each child of an affected person has a 50:50 chance of inheriting the condition.
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From Chromosome to Protein Look at this book case!
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The cell nucleus contains 22 pairs of chromosomes plus one pair of sex chromosomes.
A chromosome can be likened to a volume of an encyclopedia. Each person has two copies of the same volume, one copy from each parent.
DNA
DNA is a very long molecule composed of four different types of unit. The units are called nucleotides and they are Adenine, Thymine, Guanine and Cytosine. The nucleotides pair specifically to each other, in the manner A to T and C to G. This bonding keeps the two DNA strands together.
The order and length of the nucleotides determines which protein will be produced from the DNA sequence.
Recent research has identified abnormalities in at least ten related genes that are important in the development of heart muscle cells. The abnormality is known as a mutation and may be linked to a spelling mistake in the genetic code of DNA. In approximately 50-60% of families, affected individuals are found to have a mutation in the gene for important proteins for the contraction of the heart; beta myosin heavy chain, troponin T, alpha tropomyosin, cardiac myosin binding protein-C, or the essential and regulatory light chains. New discoveries
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Our bodies are made of millions of cells
Each cell has a nucleus
Each nucleus has 46 chromosomes
Each chromosome is made up of a long spiral of DNA
The DNA spiral is divided into genes
FIGURE 3 |
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A gene is a sequence of letters, the length and order of the characters define the nature of the protein it produces.
The discovery of these gene abnormalities is a major step towards understanding the cause of hypertrophic cardiomyopathy. Ultimately, this should allow diagnosis from a blood or saliva test, which will be particularly useful in children and adolescents. Ongoing research aims to identify the other genes that cause HCM, and to understand how these gene abnormalities result in the heart abnormalities.
The normal electrical impulse in the heart
The normal electrical impulse starts in the right atrium as shown by the arrows. It travels, by special conducting tissue, down through the heart and into the muscle to start a contraction.
The heart in hypertrophic cardiomyopathy
The major abnormality of the heart in HCM is an excessive thickening of the muscle. Thickening usually begins during early adolescence and stops when growth has finished, ie late teens to early twenties. It is uncommon for thickening to progress after this age. Sometimes later in life the muscle may thin slightly. In some cases the thickening of the muscle can occur later in life. This presentation of the disease is possibly more common with a particular gene abnormality. The distribution of muscle thickening, or hypertrophy, is variable. The left ventricle is almost always affected, and in some patients the muscle of the right ventricle also thickens.
Figure 9 shows the commonest form of HCM where the muscle thickening occurs predominantly in the septum, the dividing wall between the right and left sides of the heart.
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Hypertrophic Cardiomyopathy
FIGURE 9 |
Hypertrophic cardiomyopathy: asymmetric septal hypertrophy without obstruction
This diagram shows the commonest form of HCM where the muscle thickening occurs mainly in the upper part of the septum. The mitral valve is in a normal position.
It can be seen from Figure 9 that the hypertrophy is usually greatest in the wall separating the left and right chambers of the heart (the septum). The muscle thickening in this region may be sufficient to narrow the outflow tract (Figure 10). In some patients this thickening is associated with obstruction to the flow of blood out of the heart into the major blood vessel, the aorta.
In such cases, during the ejection of the blood flow from the heart, the mitral valve touches the septum. There should normally be a considerable gap between these structures (Figure 9). This narrowing of the outflow tract interferes with the normal ejection of blood. It causes a turbulent blood flow, and sometimes obstruction. The turbulent flow produces a murmur that is audible with a stethoscope. In such patients, the abnormal position of the mitral valve may cause it to leak. This is called mitral regurgitation and may also cause a murmur (Figure 10).
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Asymmetric septal hypertrophy with obstruction
FIGURE 10 |
Hypertrophic cardiomyopathy: asymmetric septal hypertrophy with obstruction
In some cases of asymmetric septal hypertrophy, obstruction to the outflow of blood from the heart may occur, as shown here. The mitral valve touches the septum, blocking the outflow tract. Some blood is leaking back through the mitral valve (mitral regurgitation).
In some patients the muscle thickening is evenly distributed throughout the ventricle. This is known as symmetric or concentric left ventricular hypertrophy (Figure 11). In a small proportion of patients, (approximately 10%), myocardial thickening is predominantly at the tip, or apex, of the heart (Figure 12).
Function of the heart in hypertrophic cardiomyopathy
The thickened muscle usually contracts well and ejects most of the blood from the heart. However, the muscle in HCM is often stiff and relaxes poorly, requiring higher pressures than normal to expand.
Occasionally patients present with minimal or no hypertrophy, but severe restriction to the normal inflow of blood into the ventricles. In such cases the differentiation from restrictive cardiomyopathy may be difficult and accurate diagnosis relies on the presence of other clinical features of the two conditions.
Examination of the heart muscle in HCM under a microscope shows that the normal parallel alignment of muscle cells has been lost and the cells appear disorganised. This abnormality, called myocardial disarray, is shown in Figure 1. It is probable that myocardial disarray interferes with normal electrical activity in the heart and predisposes it to irregularities of the heartbeat.
Normal parts of the heart in hypertrophic cardiomyopathy
Parts of the heart commonly affected in other conditions, eg the heart valves and main coronary arteries (blood vessels that supply the heart muscle), are usually normal in HCM.
Hypertrophic cardiomyopathy: symmetric hypertrophy
In this case the muscle thickening is of equal severity throughout the whole left ventricle.
Hypertrophic cardiomyopathy: apical hypertrophy In this form of Hypertrophic Cardiomyopathy the muscle thickening occurs predominantly at the tip (apex of the left ventricle) Only a small slit-like cavity remains. When does hypertrophic cardiomyopathy develop? Although hypertrophy may be present at birth or in childhood, it is much more common for the heart to appear normal at these times. Occasionally HCM is the cause of a stillbirth. The condition can also develop during infancy and, if this is present with congestive heart failure, it may be fatal. However, hypertrophy more commonly develops in association with growth and is usually apparent by the late teens or early twenties. After this time there is no significant change in muscle thickness in the majority of patients. Children and adolescents with the condition are usually identified when family screening is performed because an adult in the family is found to be affected. In patients without a family history, the diagnosis is often made following the detection of a murmur or an abnormality on a routine electrocardiogram (ECG) and echocardiogram (echo). A minority of people develop HCM for the first time in later life. This is sometimes called ‘late-onset’ HCM. The symptoms and treatment of patients with late-onset disease are the same as patients who develop the disease at a younger age. In some circumstances, the relatives of patients with late-onset disease may be advised to undergo repeat screening after their early twenties. What symptoms does hypertrophic cardiomyopathy cause? There is no particular symptom or complaint that is unique to HCM. The reason for the onset of symptoms is often unclear although they may occur at any stage in a person’s life, even though the condition may have been present for some time. Exercise capacity may be limited by breathlessness and fatigue. Most individuals experience only mild exercise limitation, but occasionally limitation is severe and a minority may have shortness of breath at rest. Chest pain on exertion (sometimes called angina) is a common symptom. Pain may also occur at rest or during sleep and may persist. In some patients the pain occurs because of an imbalance between oxygen supply and demand in the heart muscle. Although the main coronary arteries, which supply the heart muscle with blood are normal, the microscopic arteries within the muscle itself may be narrowed. Therefore at certain times, such as during exercise, the heart muscle does not receive enough oxygen to meet its requirements. People may occasionally feel an extra beat or a skipped beat, but this is usually normal. Palpitation refers to an awareness of a change in the heartbeat. This can take many forms. In some cases, palpitations may start suddenly, appear to be very fast, and may be associated with sweating or light-headedness. The cause of such episodes should, if possible, be determined and treated. People with the condition may experience light-headedness, dizziness and, more seriously, blackouts. Episodes may occur in association with exercise, with palpitations, or without apparent provocation. The reasons for these episodes are not always clear. They may be due to an irregularity of heartbeat or a fall in blood pressure. Episodes of light-headedness, and certainly a blackout, should be reported to your doctor and investigated. In the majority of patients with hypertrophic cardiomyopathy, the physical examination is unremarkable and the abnormalities detected may be subtle. Most patients have a jerky pulse and a forceful heart beat that can be felt on the left side of the chest. Both of these reflect the thickened, strongly contracting heart. However, the most obvious abnormality on physical examination is a heart murmur which is present in 30-40% of patients. DIAGNOSIS HCM may be suspected because of symptoms, a murmur or an abnormal ECG. An individual with the condition may have any of the symptoms described above. But because such symptoms could be caused by a large number of other conditions, further tests are necessary. An ECG records the electrical signal from the heart. It is performed by placing electrodes on the chest, wrists and ankles (Figure 13). In hypertrophic cardiomyopathy, the ECG usually shows an abnormal electrical signal due to muscle thickening and disorganisation of the muscle structure. In a minority of patients (5-10%), the ECG may be normal or only show minor changes. ECG abnormalities are also not specific to hypertrophic cardiomyopathy and may be found in other heart conditions.Late onset disease
SYMPTOMS
Shortness of breath
Chest pain
Palpitations
Light-headedness and blackouts
Physical examination
Electrocardiogram (ECG)
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FIGURE 13 |
Echocardiogram or echo
Nowadays the diagnosis of HCM is made with an echocardiogram or echo. Like the ECG, it produces a picture of the heart similar to those in Figures 9-12, where the muscle can be measured. Additional equipment, called Doppler ultrasound, can produce a colour within the heart and provide information on the heart’s function.
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Other investigations that may be necessary
Additional investigations may be required to assess symptoms, the risk of complications and to select the best treatment.
Patients with breathlessness that does not respond to therapy may require cardiac catheterisation. In this test a fine tube is passed from a blood vessel (usually at the top of the leg) to the heart under x-ray guidance. Pressures inside the heart are then measured and an x-ray picture is taken to assess heart function.
In some patients who experience chest pain, dye may also be injected into the coronary arteries to determine if they are narrowed.
This is a specialised form of cardiac catheterisation of the electrical stability of the heart muscle. Electrophysiological studies involve the passage of fine wires from the veins in the top of the leg, in the arm, or shoulder to the heart under x-ray guidance. These wires are then used to apply electrical stimuli to different parts of the heart muscle to record the response of the electrical system of the heart.
The severity of exercise limitation, and the effect of therapy, can be assessed with bicycle or treadmill exercise testing. Exercise testing also provides an objective measure of improvement, stability or deterioration over time.
This test is a continuous ambulatory recording of the heartbeat over 24 to 48 hours, (see Figure 15). A holter monitor is a simple and safe test, which will detect irregularity of the heartbeat (also known as arrhythmia).
In these tests, substances producing very tiny amounts of radioactivity are given by injection. A specialised camera is then used to assess the contraction, filling, structure and function of the heart and also to estimate the heart’s blood supply at rest and on exercise.
What is the outlook for affected persons?
Complications of hypertrophic cardiomyopathy
In a minority of cases a number of specific complications can occur and may include:
Arrhythmias (irregularities of the heartbeat) are a common complication. Symptoms such as palpitations may occur. Exercise testing or holter monitoring may detect them. The arrhythmias, called ventricular tachycardia (arising from the ventricles), or atrial fibrillation are particularly important and may require treatment.
The normal regular rhythm of the heart beat is lost and replaced by an irregular, often fast rhythm that may be episodic (paroxysmal atrial fibrillation) or persistent. Although atrial fibrillation is not generally life threatening, the loss of normal atrial contraction produces a risk of clots forming in the atria which can sometimes lead to a stroke. Drugs that thin the blood (anticoagulants such as warfarin) help to reduce the chances of this happening. Patients often feel more breathless due to the fast heart rate, and medication may be required to slow the heart rate. Sometimes electrical cardioversion may be used to shock the heart back into normal rhythm. If this procedure is necessary, it is carried out under general anaesthetic.
This is an infection of the heart, which occurs rarely in HCM.
Bacteria in the blood stream can stick to the inside of the heart where it has been roughened by turbulent blood flow; patients with outflow tract obstruction are more prone to this. All patients with a heart murmur should receive antibiotics before dental or surgical procedures.
The normal electrical signal may travel down to the ventricles slowly or may even be completely blocked, heart block. This is uncommon, but if this occurs, a pacemaker may be implanted, (see other forms of therapy).
At present there is no cure for HCM and, regrettably, no treatment has yet been shown to return the heart to normal. Research is continuing in this area. Developments are most likely to come from the early detection of those carrying the gene for HCM and from treating them to prevent the development of hypertrophy.
Treatment aims to improve symptoms and prevent complications. There are many forms of treatment available which may help to relieve symptoms. Many individuals who have few or no symptoms do not require treatment. For those who do, treatment depends on symptoms, and whether obstruction to left ventricular outflow is present or not.
Medication is usually tried first. A variety of drug treatments are currently used and, of course, new drugs may be discovered in the future.
The need for any treatment and choice of that treatment has to be made on an individual basis and may change in any one individual over the years.
Beta-blockers are drugs which slow the heart beat and reduce its force of contraction. These drugs usually relieve chest pain, breathlessness and palpitation. Beta-blockers are widely used in medical practice for other types of heart disease and for high blood pressure. Occasionally, excessive slowing of the heart rate can cause fatigue. There are many betablockers: the most commonly used are propranolol, atenolol, and sotalol. Beta-blockers are used with care in people who have asthma. Occasionally, beta-blockers may make you feel tired or lethargic, cause sleep disturbance, and pain in the hands and feet during cold weather. If you have any of these side effects you should consult your doctor.
The second major group of drugs used are calcium antagonists or calcium channel blockers. Within this group verapamil is the drug which has been most used in HCM. It improves the filling of the heart by reducing the stiffness of the myocardium and, like beta-blockers, reduces symptoms such as chest pain, breathlessness and palpitations. Also, like beta-blockers, verapamil can cause excessive slowing of the heart rate and lower blood pressure. Common side effects include tiredness, low blood pressure, headache, constipation and ankle swelling. If you have any of these side-effects you should consult your doctor.
Patients with episodic or persistent atrial fibrillation should take anticoagulants (blood thinners) to prevent clots forming in the atria. Warfarin is the tablet most commonly used. Warfarin requires monitoring with a blood test, frequently at first and then on approximately a monthly basis when the correct level for the individual has been found. The dose of warfarin required varies in different people. Regular monitoring ensures that the right amount is being taken. Excessive bleeding or bruising may indicate the warfarin dose is too high. Any symptoms such as these should be discussed with your doctor or anticoagulant clinic.
Occasionally patients develop fluid retention and in this situation diuretics, which increase urine flow, are prescribed.
Atrial fibrillation may be stopped by the application of a small electrical shock to the chest. This procedure is carried out under general anaesthetic. Cardioversion is often worthwhile as it may relieve symptoms and avoid the need for long-term anticoagulation.
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FIGURE 16
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As described earlier, the normal electrical signal may fail to travel down the ventricles. In this situation a pacemaker is implanted. This involves putting a small box under the skin of the chest. Fine wires go through the veins to the heart to deliver the necessary electrical signal to regulate the heart rate. Implantation is usually done under a local anaesthetic with a mild sedative to relax the patient.
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FIGURE 17
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A heart transplant is necessary for a few individuals who have severe impairment of the pumping action of the heart.
Treatment for hypertrophic cardiomyopathy with obstruction
Approximately a quarter of people with HCM have obstruction to the outflow of blood from the heart. This can cause chest pain, breathlessness and fainting. It can also predispose people to arrhythmias, in particular atrial fibrillation. The first line treatment for HCM with obstruction is with drugs that reduce the force of the contraction of the heart. Most commonly used are beta-blockers. If these are ineffective, disopyramide, a drug usually used to treat arrhythmias, can be effective in relieving symptoms. Common side-effects include dry mouth and eyes, constipation and difficulty passing urine. You should consult your doctor if you experience any of these symptoms.
This procedure is considered in people with severe symptoms, unrelieved by drug treatment, in which the left ventricular outflow tract narrowing causes obstruction of the blood flow (Figure 10).
In this operation the surgeon removes a portion of the thickened muscle from the septum, widening the outflow tract and relieving obstruction. In some patients, the mitral valve may be abnormal. In such cases the valve may need to be replaced during the same surgical procedure.
This procedure reduce hypertrophy of the upper septum without the need for open-heart surgery. The technique involves injecting a small amount of alcohol solution down a minor branch of the coronary artery that supplies the upper septum, destroying this part of the heart muscle. This is performed under a local anaesthetic using the same technique as in cardiac catheterisation. Very occasionally patients may require a permanent pacemaker after this procedure. Your cardiologist will explain this in more detail.
Both of these procedures carry a risk and are, therefore, reserved for patients with severe symptoms from HCM with obstruction.
In some patients with HCM with obstruction, a pacemaker alone can relieve symptoms. However, recent trials have shown that improvement only occurs in a small number of patients. Pacemakers are now generally used only in patients who also have other indications for a pacemaker, such as a slow heart rate or if an alcohol ablation or surgical myectomy are not considered possible.
A small number of patients with HCM are at an increased risk of sudden death that may occur with little or no warning. Sudden cardiac death is the result of an arrhythmia (when the heart beats too fast and chaotically), which may eventually cause the heart to stop beating (a cardiac arrest). This is different to a heart attackwhen one of the blood vessels that supplies the heart with blood becomes blocked and the heart muscle which it supplies can be starved of oxygen.
Although sudden death is obviously the most feared complication of HCM, it is a relatively uncommon event and can be prevented in most patients. Recent studies have suggested that the majority of patients who are at risk can be identified using relatively simple and non-invasive tests - an ambulatory electrocardiogram, an exercise test and an echocardiogram. Identified risk factors for sudden death include: severe left ventricular hypertrophy, episodes of unexplained collapse, non-sustained ventricular tachycardia (these are abnormal heart beats originating from the ventricle and can be identified using a 24 hour heart monitor), an abnormal blood pressure response to exercise (when your blood pressure does not rise normally or even falls during exercise) and family history of sudden cardiac death.
If a patient is at increased risk of sudden death, treatment may involve drug therapy (amiodarone) or with an Implantable Cardioverter Defibrillator (ICD). The choice of therapy requires careful medical consideration in each case.
Implantable cardioverter defibrillator (ICD) An ICD is a box that is slightly larger than a pacemaker and it is implanted under the skin in the top of the chest. Wires are inserted through a vein, which sits just under the collarbone and passes into the right side of the heart. The wires are attached into the muscle of the heart at one end and into the box at the other end. The procedure is often carried out under a local anesthetic. The ICD is able to record and deliver electrical impulses when the normal electrical action of the heart is lost. How is lifestyle affected by hypertrophic cardiomyopathy? For many people HCM will not interfere with their lifestyle. Some individuals may have symptoms related to exertion and find that they cannot do as much physical work or recreation as other people of the same age. Medical advice should be sought before taking part in physically demanding activities. Some people will be advised not to take part in competitive sports or other strenuous physical effort. As with any heart condition, difficulties may be experienced in obtaining life insurance and premiums may reflect an insurer’s position. The Association of British Insurers (ABI) position is that they will continue to take account of family history and of other medical information. On genetic testing, the ABI have stated that they will not ask people to take genetic tests when applying for life insurance but “people wishing to take out new life insurance policies will continue to be required to report the results of any genetic tests undertaken unless otherwise indicated by the life insurance company.” The majority of patients with HCM have at least one other affected first degree relative (a parent, brother, sister or child). When a person is diagnosed with HCM it is advised that all first-degree relatives are screened for the condition. It is important to remember that family evaluation is recommended because HCM may be present without any symptoms. Evaluation involves a physical examination, an ECG and echo. Where a gene abnormality causing the HCM has been identified in an individual, it is possible to screen first-degree relatives for the same gene. In most adults where the results of the above tests show no abnormality, a diagnosis of HCM can be excluded. In a small number of patients where there is no physical evidence of the disease, the abnormal gene may still be present. In this situation, the gene carrier, with no apparent manifestation of the condition, may still pass the HCM gene to the next generation. In children, however, regular clinical evaluation is required until the full growth spurt is completed (around 20 years of age) as symptoms may not show until adulthood. Children of an affected parent, who have no evidence of the condition when screened, are advised to be seen for repeat screening every 3 years until puberty, and then on an annual basis until around 20 years. ECG and echo should be used each time. What about having children? The main concern of affected parents is the risk of passing on the condition to their children. It is not possible to make a general statement about the risk and every case will need to be considered individually. For instance, in a family that has shown an autosomnal dominant pattern of transmission from one generation to the next (see figure 2), the likelihood of a parent passing on the abnormal gene to a child is one in two. In other cases, where there is no inheritance pattern in the family, the offspring of an affected individual probably also has a one in two risk of inheriting the condition. Even if a child inherits the abnormal gene, the degree to which he or she might be affected is very variable. There is no definite method of predicting how severe the condition will be. In general it is recommended that children are screened regularly until adulthood. If there is no evidence of HCM in early adulthood, it is extremely unlikely that the condition will develop in later life. Pregnancy is usually well tolerated and safe for the majority of women with HCM. However, as for women with any heart condition, pregnancy carries a slight additional risk because pregnancy imposes an increased demand on the heart. Women may find that they develop symptoms for the first time during pregnancy or that their usual symptoms are increased. Also, the question of taking drug treatment around the time of conception or during pregnancy arises in many cases. For all these reasons it is best to plan pregnancy carefully and discuss all aspects at an early stage with your doctor. If you are considering having an epidural in your labour it is worthwhile discussing this with your doctor well in advance. In some patients an epidural may cause an excessive fall in blood pressure. Your obstetrician should be kept well informed of your condition. Which doctors should be involved in routine medical care? The family doctor or general practitioner should be involved at all times. The diagnosis of HCM will usually be made by a cardiologist who should also be involved in follow-up appointments. The exact arrangements will vary from place to place and depend on the individual patient. In general, everyone with the condition should have an annual medical check-up. Those who are more symptomatic and need drug treatment should have more frequent follow-ups are required. After the initial diagnostic tests, the need for further investigations will depend on individual and local circumstances. Psychological adjustments in cardiomyopathy Finding out that you have a diagnosis of cardiomyopathy can be distressing, but most people come to terms with the diagnosis. We all have different ways of adjusting and there is no right or wrong way. In the early stages it is normal to feel shock, anger and disbelief. Stress, fear and anxiety can sometimes help us to re-examine and change our lifestyles, and the idea that all stress is bad for us is simply nonsense. Nonetheless, when emotions like this persist for months on end or begin to overwhelm us, they can merge into treatable medical diagnoses such as anxiety and depression. A study at St. George’s Hospital in London found that two fifths of patients with cardiomyopathy had an anxiety disorder and one fifth had depression. This was more than just distress, sadness or grief. Many patients also experienced problems with physical intimacy, but had difficulty in discussing those problems with health care professionals. Anxiety combines physical and psychological symptoms. You may feel worried all the time, constantly fatigued, unable to concentrate, irritable and sleep deprived. Anxious people experience physical symptoms such as palpitations, sweating, rapid shallow breathing, dizziness, fainting, muscular tension, indigestion and diarrhoea. All of these symptoms may be wrongly interpreted as symptoms of cardiomyopathy, and worrying about this can make the emotions spiral out of control. Sufferers may avoid talking about their feelings for fear that other people may think that they are ‘mad’. Irritability can cause conflict with those who love you, and people with severe chronic anxiety often hold the world at arms' length. What to do about anxiety? Talking to someone is the first stage in finding a solution. Friends and relatives can be ideal, but sometimes it is easier to talk to a stranger. Talking to other people with cardiomyopathy can break down barriers of isolation. Self-help groups can be useful if enough people commit themselves to the group. Relaxation techniques can help us to control anxiety. Learning to relax, like learning to play the piano, is a slow process and needs to be practised regularly rather than be used only in a crisis. Health care professionals can teach relaxation techniques, but it is possible to use a variety of books and tapes. In a few rare cases, the roots of anxiety may be deeper, and may need to be teased apart through psychotherapy, which may take weeks or months. Doctors sometimes prescribe medication for anxiety, and this can be helpful in some cases. Sleeping tablets and tranquillizers such as valium (benzodiazepines) are highly effective but can also become addictive after only four weeks of regular use. As a short-term measure they can be very useful but should not be used for longer-term treatment. Sometimes anti-depressants can be useful for chronic anxiety. Feeling fed up or miserable is normal, and feelings like this usually doesn’t last for long or interfere significantly with our lives. We say that someone has clinical depression when these feelings persist and severely interfere with our lives. Feelings of clinical depression can last for months and affect a range of physical and psychological functions, including sleep disturbance, loss of appetite and frequent thoughts that life is not worth living. Depression comes on gradually and we do not recognise how depressed we are. Sometimes we pay more attention to our physical symptoms than our psychological state. Physical symptoms such as chest pain can be signs of a depressive episode. Depression is different to the normal grief than one would expect in being told you have the diagnosis of cardiomyopathy, in so far as grief passes through stages of acceptance and reconciliation, whereas depression hangs over us for months at a time. What to do about depression? A regular active routine can be effective for mild depression. Having cardiomyopathy restricts vigorous exercise and you should consult your doctor if you are uncertain about activity, but that shouldn’t stop you being active. People with depression may stop looking after their body, losing weight and ignoring essential nutrients. Many people with depression have difficulty sleeping. Sleep disturbance does not kill you, so try not to worry too much about sleep difficulties. Nonetheless, establishing regular habits of eating and sleeping can help your mood. Alcohol seems to make us happy but is a depressant. Studies suggest a small minority of people with cardiomyopathy are driven to drink, giving transient relief of symptoms. But this will only make things worse. When depression starts to significantly affect your hobbies, social relations and occupation, when you start to believe that life is not worth living, or when the feelings persist for a long time, then you should seek help. Approach your family doctor. Professional help is often necessary and is usually treated by family doctors who recommend some sort of talking treatment, anti-depressants tablets or a combination of the two. Talking to a trained counsellor or therapist can be easier than talking to people you know. There are many different forms of psychotherapy. Cognitive therapy looks at the structure of your thoughts and helps to overcome the automatic thoughts at the root of depression. Dynamic and inter-personal therapies can look at relations with others. Talking therapies take time to work, and you may need to see a counsellor for many sessions over several weeks before you gradually experience an improvement. Severe or chronic depression may benefit from a course of anti-depressants. Having cardiomyopathy may limit the choice of anti-depressant but will not stop you getting a prescription if you need one. It can take several weeks to experience beneficial effects from anti-depressants. Anti-depressants act on chemical substances in the brain called neuro-transmitters. This is not to suggest that depression is nothing but a chemical event, but sometimes modest improvements in brain chemistry can have substantial benefits for overall functioning. A minority of patients may need more specialist help from a psychiatrist or member of a mental health team. Specific help for cardiomyopathy All chronic medical conditions like cardiomyopathy require the patient to become the expert, and many patients will know more about the condition than some doctors. This applies as much to emotional as to physical sequelae. Chatting to other people with the diagnosis can be invaluable. Nurses and doctors working in dedicated clinics have a tremendous range of expertise and understanding. Accessing more specialist psychological treatments can be difficult but if you need help then you should ask for it. Most people come to terms with cardiomyopathy, but some people will require extra assistance. If one of those people is you, you should ask your family doctor for more support.
General advice If an individual is overweight, it places an extra strain on the heart. Sensible eating habits are encouraged to maintain weight within the normal range for height and age. Any rapid increase in weight is likely to be due to fluid retention and your doctor needs to be notified. There is no strong evidence on this in HCM but moderation is advised as alcohol has a depressant effect on the heart muscle. Although tobacco smoking is not directly associated with HCM, it is advisable not to smoke as it is likely to shorten your life. Group 1 Entitlement – Driving may continue unless there are distracting or disabling symptoms in which case the DVLA should be notified. Group 2 Entitlement – Recommended permanent refusal or revocation. This may be recommended by your doctor to help prevent a severe bout of the flu. Unfortunately this vaccination is not always successful. It is advisable to see your GP for medical approval before travelling. If travelling abroad, you should also obtain information from your travel agent regarding insurance and the health care policy of the country you are visiting. If going to Europe it is advisable to get a European Health Insurance Card (EHIC), which replaces the E111 form. You can apply online at www.ehic.org.uk, call 0845 6062030 or pick up an application form at the Post Office Allowances are available for those people whose symptoms cause severe restrictions. Disability Living Allowance is a state benefit for those with an illness or disability who need help getting around or help with personal care. To obtain information about Tax Credits, contact the Inland Revenue helpline on 0845 3003900. Details of benefits can be obtained by calling Freephone number 0800 88202000 (Benefit Enquiry Line). What research is being conducted? Research is being conducted into HCM in many countries. As outlined earlier, genetic research aims to identify the remaining gene(s) which cause HCM and to examine how these abnormalities resolve in disease. In particular, why do these gene abnormalities cause muscle cell disorganisation and overall thickening of the myocardium? What effect do they have on the way a single muscle cell contracts? Clinical research attempts to determine the reasons for symptoms and sudden collapse and to find new forms of treatment. Frequently asked questions I am due to have an operation, are anaesthetics safe? In most patients with HCM a general or local anaesthetic is not associated with any additional risk. Your anaesthetist should be told of your heart condition and will monitor you carefully. Occasionally regional anaesthesia (eg a spinal block) is used for certain operations. In some patients this may be more problematic and should be discussed with your cardiologist and anaesthetist. What do I do if my symptoms get worse? If your symptoms get worse you should consult your GP. He or she will be able to contact your cardiologist if this is required. If in an emergency you are unable to contact your GP, you should go to your local hospital's accident and emergency department. I always have symptoms of dizziness and shortness of breath, and I occasionally black out. I don’t like to be a nuisance but when should I call my GP? If you pass out or feel as if you’re about to pass out, you should inform your doctor immediately. Similarly if you become breathless or your breathlessness gets worse you should let your doctor know. This is a personal decision and can be discussed with your doctor if you wish. Your children will generally have a 50:50 chance of inheriting the disease and we cannot predict in advance how severely the disease will affect them. If you decide to have children or have children already, it is important that they are screened from a young age. My GP doesn’t seem to know very much about my condition. How can I help him/her to understand my condition better so he/she can help me? Information regarding the condition is now easily available to most doctors on line or in most cardiology reference books. If, however, your doctor requires specific information he could contact the Cardiomyopathy Association and we will put him in touch with a cardiomyopathy specialist. We can also send him or her a medical CD-Rom that contains information on cardiomyopathy aimed at medical professionals. Will this affect my sex life? For most people there is no effect on their sex lives. Occasionally however, patients may complain of some chest pain or breathlessness. Occasionally medication may affect your sex drive or potency. If this is the case you should consult your doctor. Why can’t they just cut my heart down to size? This is far easier said than done. HCM is not just a thick heart. The muscle cell structure in the heart is also abnormal, so cutting away the thickened muscle would not cure the condition. Patients with HCM with obstruction who have severe symptoms may have a small portion of the thickened muscle that blocks the outflow tract removed. This procedure may relieve symptoms, but it is not a cure and it carries a definite risk. Are there any occupations that I should avoid? Most occupations are not contra-indicated by this condition. Some heavy manual jobs, involving strenuous activity, may need to be avoided, and this should be discussed with your doctor. For some occupations however, such as airline pilots and heavy goods vehicle drivers, there are strict guidelines. If you are required to fill out a medical questionnaire you should inform your employer of your medical condition. Your doctor may be able to provide additional information for your employer. How do I know if I am at risk of sudden death? Most patients at increased risk can be identified by non-invasive evaluation, which includes medical history, echocardiography, exercise testing and 24 or 48 hour heart rate recording. If you are at increased risk, your cardiologist will discuss possible therapies to prevent sudden death. Will my heart get bigger? Unless you have late onset disease your heart muscle does not usually grow after you have stopped growing in your early twenties. In a small number of patients the heart muscle thins and the ventricular cavity enlarges later in life. In some patients this may be associated with increased breathlessness or palpitations. Is a cure going to be available soon? This is a difficult question to answer. What we can say is that researchers throughout the world are working on ways to better diagnose and treat HCM as well as reducing the risk of sudden death. If any new treatments become available your cardiologist will be able to discuss these with you. If you have any questions about this information contact us through the CMA Helpdesk AMBULATORY: Refers to tests performed when a person is walking around or going about their normal activities. ANGINA: A chest pain or discomfort usually brought on by exertion and relieved by rest. Angina results from insufficient oxygen supply to the heart muscle. ANGIOGRAPHY: An internal x-ray of the heart and blood vessels which may be taken at the time of cardiac catheterisation (see below). In particular, this test assesses the coronary arteries (the blood vessels which supply the heart muscle). ANTIBIOTIC PROPHYLAXIS (Prevention): Those with HCM should usually take an antibiotic prior to dental procedures and other surgery. This is recommended because, during such procedures, bacteria may enter the bloodstream and could cause infection in the heart (see ENDOCARDITIS). ANTICOAGULATION: Treatment (eg heparin or warfarin) to reduce the clotting ability of the blood. Such treatment is used when there is a risk of clot formation in the heart due to atrial fibrillation (see below). AORTA: The main blood vessel which arises from the left ventricle and carries the blood from the heart to the rest of the body (see figure 7). APEX/APICAL FORM OF HYPERTROPHIC CARDIOMYOPATHY: The tip of the left ventricle is called the apex. This region may be the main part of the heart affected in which case the condition is then called apical hypertrophic cardiomyopathy (see figure 12). ARRHYTHMIA: An abnormal rhythm or irregularity of the heart beat. The heart beat may be either too fast (tachycardia) or too slow (bradycardia). Arrhythmias may cause symptoms such as palpitation or light-headedness. ATRIA: The filling chambers of the heart, one on the right side and one on the left. Blood is collected in the atria while the ventricles are contracting. This blood is then released into the ventricles when they are ready to fill (see figure 7). ATRIAL FIBRILLATION: A common type of arrhythmia. It begins in the atria and may be transient, (paroxysmal), or persistent. The heart rhythm is irregular. AUTOSOMNAL DOMINANT PATTERN OF INHERITANCE: Where a condition is transmitted in a family from one generation to the next without skipping any generations. CARDIAC CATHETERISATION: A special test used for many forms of heart disease and sometimes performed in HCM. At cardiac catheterisation a fine tube it passed from a blood vessel (usually in the top of the leg) to the heart using x-ray guidance. The structure and function of the heart can then be assessed. CARDIOMYOPATHY: Any disease of the heart muscle; cardia refers to the heart and myopathy means an abnormality of muscle. CONCENTRIC HYPERTROPHY: Where the walls of the left ventricle are thickened uniformly, also called symmetric hypertrophy (see figure 11). CONGESTIVE HEART FAILURE: see HEART FAILURE. DIURETICS: Occasionally patients may develop fluid retention and they may be given tablets, called diuretics, which increase the production of urine by the kidneys. DOPPLER ULTRASOUND: A test usually combined with an echo (see below). Doppler can produce a colour-coded image of blood flow within the heart and detect areas of turbulent flow. The pattern of filling and contraction of the heart in HCM can also be assessed. ELECTRICAL CARDIOVERSION: An arrhythmia, such as atrial fibrillation, may be stopped by the application of an electric shock to the chest. If this procedure is necessary, it is carried out under general anaesthesia. ELECTROPHYSIOLOGICAL STUDY or EPS: In this test catheters are introduced into the heart as in cardiac catheterisation (see above). These catheters can record and stimulate the electrical activity of the heart. ENDOCARDITIS: An infection of the heart that can occur in HCM but is very rare. Bacteria in the bloodstream can stick to the internal surface of the heart or heart valves where they have been roughened by turbulent blood flow. EXERCISE (STRESS) TESTING: Exercise capability may be tested using either a treadmill or a stationary bicycle. During an exercise test a doctor and technician will monitor a patient's symptoms, ECG, blood pressure and, sometimes, breathing. GENES AND CHROMOSOMES: Genes are the code or blueprint that build all the tissues in the body. Each individual has thousands of genes and they are all present in every cell of the body. Genes come in pairs, one inherited from your mother and the other from your father. In each cell the genes are grouped together in tiny, thread like structures called chromosomes. Each individual has 23 pairs of chromosomes. HEART BLOCK: Occasionally the normal electrical signal does not travel down to the ventricles resulting in an abnormally slow heart rate. This situation can be diagnosed on ECG. If it occurs, a pacemaker is fitted. HEART FAILURE (CONGESTIVE CARDIAC FAILURE): A condition where weakness of the beating action of the heart causes fluid retention and symptoms of shortness of breath and tiredness on exercise. It can be associated with heart beat irregularities, fluid in the lungs or swollen lungs. HOLTER MONITOR: A continuous recording of the heart beat over 24 to 48 hours. Adhesive electrodes are placed on the chest, wires from these go to a special cassette recorder which is worn on a belt. A holter monitor detects irregularity of the heart beat, otherwise known as arrhythmia. HYPERTROPHY: A thickening of any body tissue, usually a muscle. In HCM it refers to an abnormal or excessive thickening of the heart muscle. IHSS: Abbreviation of idiopathic hypertrophic sub-aortic stenosis, which was an older name for HCM, used particularly in the USA. IMPLANTABLE CARDIOVERTER DEFIBRILLATOR (commonly abbreviated to ICD): A specialised pacemaker that recognises when a heart rate is excessively fast and responds by either pacing the heart or delivering a small electrical shock to restore the normal heart rhythm. An ICD can also serve as a conventional pacemaker to deliver the necessary impulses when the heart rate is too slow. MITRAL REGURGITATION: Refers to blood leaking back through the mitral valve. This may occur in cases of HCM where there is outflow tract obstruction. MURMUR: A murmur is a noise, audible using a stethoscope, caused by turbulent blood flow in the heart. In HCM a murmur may be due to increased force of contraction and/or narrowing of the outflow tract. By analogy, increased pressure in a water hosepipe and/or narrowing of the outlet will cause turbulence. MUTATION: A genetic defect that causes a change in the normal DNA code. MYECTOMY: An operation that may be performed in HCM to remove thickened muscle to relieve the outflow tract obstruction. When successful, this operation is usually associated with improvement of symptoms. MYOCARDIAL DISARRAY: The normal parallel alignment of the muscle cells is absent. The muscle cell alignment appears disorganised. MYOCARDIUM: The specialised muscle which makes up the walls of the heart. It is this part of the heart which is abnormal in HCM. MYOSIN: A protein within each muscle cell that is involved in the normal contraction of the muscle. It has been discovered that the gene that produces myosin is abnormal in some families with HCM OUTFLOW TRACT: The short channel in the heart through which blood passes from the ventricle into the aorta. PACEMAKER: When the normal electrical impulse fails to be transmitted to the ventricles, a pacemaker is fitted. This involves inserting a small box containing a battery under the skin of the chest. A fine wire goes through the veins to the heart to deliver the necessary impulses. PALPITATION: An uncomfortable awareness of the heart beat. Palpitation may be due to a normal heart beat made more prominent by anxiety or exercise, or may be caused by an arrhythmia. RESTRICTIVE CARDIOMYOPATHY: Restrictive cardiomyopathy is characterised by a restriction to the inflow of blood into one or both ventricles of the heart. The thickness of the heart muscle and the size of the ventricular cavities are usually normal. SEPTUM: The dividing wall between the right and left ventricles. In HCM the muscle thickening is often most marked in the septum and this is called asymmetric septal hypertrophy (see figure 9). SYSTOLIC ANTERIOR MOTION OF THE MITRAL VALVE (SAM): In some cases of HCM during the ejection of blood from the heart, the mitral valve moves forward and touches the septum (there should normally be a considerable gap between these structures) blocking the outflow tract (see figure 10). VENTRICLES: The main pumping chambers of the heart, one on the right side and one on the left. The left ventricle is the part of the heart most commonly affected in HCM.. VENTRICULAR TACHYCARDIA: A type of arrhythmia, which takes the form of a fast heart beat arising in the ventricles. Guidelines for patients and relatives on the medical aspects of HCM by the Medical Sub-Committee of the Cardiomyopathy Association 1 All patients diagnosed as having HCM should ask their general practitioner and cardiologist about the complications of the disease, the purposes and methods of treatment, and the benefits, disadvantages and risks of the proposed medication or suggested operations. 2. Although HCM is not strictly curable, much can now be done by attention to appropriate lifestyle and administration of suitable drugs and, occasionally, surgical treatment. Ongoing research is opening up promising new possibilities. 3. It is important that relatives of patients with HCM should be examined by expert cardiologists to detect the disease if present. Vigorous exercise: always seek the advice of your consultant and general practitioner on how much exercise you should take. Acute severe loss of blood or body fluid: haemorrhage, diarrhoea, vomiting Prolonged standing in hot conditions that might predispose to fainting which can be dangerous During anaesthesia, including an epidural, special attention is required to avoid a sudden drop in blood pressure If any of these occur, see your doctor as soon as possible.Exercise
Life insurance
Family screening
Pregnancy and childbirth
What is anxiety?
What is depression?
Diet
Alcohol
Smoking
Driving
Flu vaccination
Travel
Allowances
Can I have children?
GLOSSARY
CHROMOSOME: see GENE.
4. Situations to avoid:
Very hot baths/showers
5.Warning symptoms:
a) Sudden loss of consciousness
b) Episodes of rapid palpitation
c) Onset of central chest pain
d) Unexplained breathlessness
Dedicated to Damian McLoughlin, who died age 20 of cardiomyopathy. This site is supported by Damian's family and friends.
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