In many cases, the disease does not limit the quality or duration of life. However, a proportion of people with ARVC develop complications, all of which are treatable. Evaluation and follow-up by a cardiologist is therefore recommended.
This page is for anyone interested in learning more about ARVC. It has been produced in consultation with healthcare professionals and those affected by the condition. The information is subdivided into three sections. The opening section explains the basic functioning of the heart and introduces the terminology used in medical literature. The middle section presents the current view of the underlying causes, diagnosis and treatment of the condition. The final part aims to address the main concerns and queries raised by patients and their relatives.
The contents of this page are not formal guidelines for assessment or treatment. Clinical care is tailored according to individual needs. Each person must be assessed individually
If you have any questions about this information contact us through the CMA Helpdesk
The Heart
The heart is a four-chambered muscular pump. The two smaller chambers, or atria, contract first, filling the larger ventricles. The right ventricle pumps blood into the lungs, where it absorbs oxygen. Oxygenated blood returns to the left atrium and, from there, the left ventricle. The left ventricle pumps the oxygenated blood to the rest of the body. Blood is then returned by the veins to the right atrium and then the right ventricle to repeat the cycle.
The Normal Electrical Heart Rhythm
Figure 2 – The Normal Electrical Activity of the Heart
Muscle cells in the heart contract when they receive an electrical signal. Electrical impulses arise from the heart’s own natural pacemaker, the sinus node. The impulse travels from the sinus node to both atria, which respond by contracting.
Next stop is the AV node, located at the junction of the atria and ventricles. The right and left bundle branches rapidly conduct the electrical signal to the respective ventricles, enabling them to contract. This is the normal pattern of conduction in the heart, referred to as sinus rhythm because it originates in the sinus node. The electrocardiogram, or ECG, detects the rhythm of the heart. If the impulse cannot travel through a bundle branch, it may spread more slowly through the ventricle instead. This slowed conduction alters the shape of the ECG and is termed right or left bundle branch block depending on which side is affected.
Abnormal heart rhythms
Arrhythmia is the medical term for any abnormal heart rhythm. One of the commonest types of arrhythmia is ventricular premature beats (VPB).
Sometimes, an electrical impulse starts off in one of the ventricles instead of the sinus node. The ventricles respond by contracting. This extra beat occurs earlier than expected because the sinus node has yet to send out a signal. This is also called a premature ventricular contraction (PVC) or a ventricular ectopic.
Ventricular premature beats are not dangerous in themselves and are relatively common in healthy people. They can result from simple things like coffee, cigarettes, lack of sleep, anxiety or alcohol. However, ventricular premature beats may also be a sign of an underlying heart condition, particularly when occurring in large numbers.
People with ventricular premature beats may experience palpitation (an awareness of the heart beating out of rhythm or fluttering). Ventricular tachycardia (VT) refers to a series of ventricular premature beats occurring in rapid succession. These rhythms can be short or last for longer than 30 seconds. Ventricular tachycardia is a serious rhythm disturbance. It can cause a sudden fall in blood pressure and may cause loss of consciousness. Fainting or passing out is referred to as syncope. The sensation of being about to faint, frequently perceived as light-headedness or dizziness, is termed pre-syncope.
Ventricular fibrillation represents complete electrical chaos within the ventricles. The heart is completely unable to pump during ventricular fibrillation.
Cardiac arrest occurs and prompt resuscitation is necessary if the person is to survive. Applying an electric shock (defibrillation) may help the heart to return to a normal rhythm.
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 or normal atrial contraction produces a risk of clots forming in the atria, which can sometimes lead to a stroke. Drugs that thin the blood, for example 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.
In the late seventies, a team of cardiologists in France described a previously unrecognised heart condition. Their patients had ventricular tachycardia arising from the right ventricle with microscopic fatty and fibrous deposits in the heart muscle. The condition became known as arrhythmogenic right ventricular dysplasia (ARVD). The term dysplasia was applied because it was thought to be due to abnormal development of the right ventricle.
Over the next two decades, the condition was increasingly recognised on postmortem examinations of young people who had died suddenly, notably athletes.
Another important observation was the tendency of the condition to run in families, which led to the realisation that it was a heart muscle disease, or cardiomyopathy. The term arrhythmogenic right ventricular cardiomyopathy (ARVC) was coined to reflect this.
Although ARVC was initially described as a disease of the right ventricle, we have come to appreciate that it often affects the left ventricle as well.
Our DNA contains a set of coded instructions for the protein building blocks of life. This blueprint is copied from one generation to the next. Occasionally, a spelling mistake occurs during the copying process. The resulting genetic alteration is termed a mutation. We inherit two copies of most of our genes, one from each of our parents. Every child of a person with an abnormal gene has a 50% chance of inheriting it.
The most common pattern of inheritance of ARVC appears to be autosomal dominant with incomplete penetrance. Autosomal dominant transmission means that a single copy of the abnormal gene is sufficient to cause the disease.
On the other hand, a person with the abnormal gene will not necessarily develop any features of the disease. This latter phenomenon is termed incomplete penetrance.
Figure 3 – A Family with Autosomal Dominant ARVC
The family tree or pedigree in Figure 3 shows four generations affected by autosomal dominant ARVC. Affected individuals are in red. Shaded pink are a man in generation 2 and a woman in generation 3. Both are free from disease, but have affected children. They are therefore obligate carriers of the abnormal gene. Certain forms of ARVC are inherited in an autosomal recessive fashion. This means that a person is only affected if he or she inherits two copies of the abnormal gene – one from each parent. In other words, both parents must be carriers. Any child then has a 25% risk of suffering from the disease (two abnormal genes); a 50% chance of being a carrier (one abnormal gene, one normal gene); and a 25% chance of inheriting two normal genes.
Figure 4 – Autosomal Recessive ARVC
Figure 4 depicts a family with autosomal recessive ARVC. Both parents carry a single copy of the abnormal gene, and are free from disease. However, their eldest son has inherited the abnormal gene from both parents, and is therefore affected. Both daughters are gene carriers, who are unaffected but able to transmit the abnormal gene to their children. The youngest son has inherited a normal gene from each parent.
Heart muscle cells are replaced by fibrous and fatty tissue. Initially this appears to be patchy and predominantly affects the right ventricle. A progressive pattern of disease is often seen. It is now recognised that the left side of the heart can also be affected. One of the most significant advances in our understanding of ARVC came with the identification of disease-causing mutations in the genes encoding the proteins plakoglobin and desmoplakin. This discovery paved the way for further gene identification studies, which are currently in progress. But how exactly do the mutant proteins affect the heart to cause the disease? This will be an active area of research for years to come, but here is one current theory (Figure 5). Plakoglobin and desmoplakin are key components of the junctions responsible for linking cells to one another. The course of the condition The traditional view of the course of the condition is shown in Figure 5. From screening the relatives of patients with ARVC, we have learned that the condition sometimes affects only the left ventricle. In other cases, weakening of the heart muscle pump occurs early on, without the preceding electrical disorder. Severity of disease expression varies greatly, even within a family.
It should be noted this progression of the disease is not automatic and will not happen to everyone affected by the condition. Heart muscle cells are attached to each other by junctions containing the defective protein.
How does ARVC affect the heart?
Many patients with ARVC never develop serious complications.
Progressive loss of muscle leads to thinning of the ventricular wall, dilation, and pump dysfunction. Interruptions to the flow of electricity cause arrhythmia.
The body attempts to repair the damage by replacing the dead muscle cells with scar tissue and fat.Progressive loss of muscle leads to thinning of the ventricular wall, dilation, pump dysfunction and interruptions to the flow of electricity cause arrhythmia
Concealed phase - Subtle structural changes in the right ventricle sometimes with minor ventricular arrhythmia. People usually have no symptoms, but may nevertheless be at risk of sudden death, particularly during extreme exertion.
Weakening of the right ventricular pump - There is dilation of the right ventricle and weakening of its muscular pump. Symptoms may include swollen legs or ankles, or a sensation of fullness in the upper abdomen.
Weakening of the left ventricular pump - The disease spreads to the left ventricle. The pumping function of both ventricles is reduced. Breathlessness may be a prominent symptom.
What are the symptoms of ARVC?
♦ Palpitation. People describe this in different ways:
'My heart gave such a flutter'
'I could feel my heart racing suddenly'
'My heart keeps missing beats'
'I could sense my heartbeat was irregular'
'I could feel my heart thumping away/ pounding against my chest'
'I felt this discomfort in my chest'
♦ Light-headedness (Pre-syncope)
'I felt light-headed/ giddy/ dizzy/ woozy/ faint'
'I felt like I was about to faint/ pass out'
'My head was spinning'
'I had a funny turn'
♦ Fainting (Syncope)
By definition, an episode where loss of consciousness occurs. This is variously described as collapse, fainting, passing out, blackout, or being “out for a few seconds”.
The above symptoms may indicate rhythm disturbances and often occur during strenuous activity. Chest pain, breathlessness, sweating, and nausea may also accompany arrhythmia.
More rarely, ARVC can present with the symptoms of weakening of the heart muscle pump, e.g.
♦ Breathlessness on attempting to lie flat
♦ Waking up in the middle of the night with difficulty in breathing
♦ Swelling of ankles or, in more severe cases, the abdomen
Unfortunately, sudden death may be the first manifestation of ARVC in some people. This highlights the importance of screening the family members of patients with ARVC.
A single test is seldom able to confirm or rule out ARVC. Establishing the diagnosis is often difficult because many of the findings are subtle and nonspecific – that is, they are seen in other conditions and are not particular to ARVC.
The relevant investigations are outlined below. Of these, the 12-lead ECG, signal-averaged ECG, Holter monitor, exercise test, and echocardiogram constitute the basic ‘screen’. Cardiac catheterisation and electrophysiological testing are invasive procedures that not all patients will require.
Obtaining an ECG involves placing electrodes on the skin to detect these signals. The leads are attached to an amplifier with a strip recorder. The ECG is a quick, painless, and readily available test. Various ECG abnormalities are included in the diagnostic criteria for ARVC. However, many patients with ARVC have a normal recording or only minor changes.
Injured heart muscle may give rise to certain low-amplitude, high frequency electrical signals. Specialist equipment is required to record these so-called late potentials. A positive signal averaged ECG is one of the minor criteria for ARVC.
Arrhythmia is one of the predominant features of ARVC. This can take the form of ventricular premature beats, non-sustained ventricular tachycardia, or sustained ventricular tachycardia. The Holter monitor is a tape that is fitted to a patient for 24 or 48 hours, and provides a continuous recording of the heart rhythm. Normal daily activities can continue while wearing the tape. However, patients are requested to make a note of any symptoms experienced during the test, and the times at which they occurred. The symptom diary is then compared with the results of the tape. In this way we can find out whether an episode of palpitations was associated with an abnormal rhythm – or simply a natural response to anxiety or excitement.
Strenuous activity may trigger arrhythmias in ARVC. The response to physical exertion is assessed by monitoring the heart rhythm while the patient exercises on a treadmill or bicycle.
Observing the heart in motion is an essential part of the assessment. Structural abnormalities in ARVC include thinning of the heart muscle, enlargement of the ventricle, or bulges in its wall. Some regions of the ventricle may not contract in synchrony with the rest. The overall function of the pump may be reduced.
The echocardiogram is an ultrasound scan of the heart. Safe, relatively fast, and available at most hospitals, it is usually the first choice for imaging the heart.
Jelly is applied to the skin, and the ultrasound probe is positioned at various locations on the chest to obtain different views. Cardiac magnetic resonance (CMR) provides detailed pictures of the heart, using a powerful magnet in combination with radio waves. Patients lie on their backs on a flat bed, which slides into a large open-ended tunnel. The heart rhythm is monitored via ECG leads, and the scanner acquires images at fixed times in the cardiac cycle. The operator will request intermittent breath holding to prevent chest movements from interfering with the imaging process. The scan usually lasts about an hour. CMR is painless and has no known harmful effects. However, a small number of people experience claustrophobia while inside the scanner.
Figure 8 – Echocardiogram
This is an invasive procedure for which the patient is admitted to hospital, usually as a day case, but sometimes for longer. The cardiologist injects a local anaesthetic near the top of the leg, or occasionally, in the arm. This stings a little at first, but the skin soon becomes numb. A special tube, or cardiac catheter, is inserted into the one of the larger blood vessels and manoeuvred to the heart under X-ray guidance. Dye (or contrast) is injected to obtain images of the heart. A coronary angiogram can be performed at the same time by injecting dye into the coronary arteries.
This study is often indicated in the investigation of collapse or chest pain, when coronary artery disease may be responsible. The angiogram is the best way of looking for the narrowings in the coronary arteries that cause heart attacks and angina.
In the past, a small biopsy of the heart muscle was often taken during cardiac catheterisation, and examined under the microscope for the presence of scar tissue and fat. This is becoming less common now, partly because of the patchy nature of the disease. Since some portions of the heart muscle may be affected before others, a ‘negative’ biopsy does not rule out ARVC.
Invasive electrophysiological testing involves the insertion of catheters into the heart for two main purposes:
(1) To obtain a detailed study of the electrical activity of the heart
An EP study may also be offered to patients who have suffered multiple fainting spells, or a previous cardiac arrest, and have no evidence of arrhythmia on ECG, Holter monitor, or exercise test. In these instances, it is often worth determining whether arrhythmia can be provoked by stimulating the electrical activity of the heart. Patients may experience their familiar symptoms of palpitations or lightheadedness when the arrhythmia is induced, and should describe these sensations to the cardiologist conducting the study.
Patients often report symptoms suggestive of arrhythmia, such as palpitations, dizzy spells, or fainting episodes. In many cases, however, arrhythmia is not documented on repeated 24-hour or 48-hour tapes, because the symptoms do not occur during periods of monitoring. The ILR is a thumb-sized device implanted just beneath the skin that is capable of monitoring and recording the heart rhythm. Day case admission is arranged, and the device is inserted on the left side of the chest under local anaesthetic. Patients can use a hand-held activator to trigger the recording feature when the symptoms come on; activation is automatic when the device senses a change in heart rate or rhythm.
Although no cure currently exists for ARVC, there are many effective ways of averting and treating its complications. The management of ARVC has four specific aims:
♦ Identifying people at risk of sudden cardiac death and offering protective measures
♦ Improving the functioning of the heart muscle pump
♦ Screening family members for the condition
Knowledge of ARVC is expanding rapidly, but we do not currently have any definitive means of predicting who is at risk of sudden death. Proposed clinical markers include:
♦ Evidence of ventricular tachycardia on ECG, 24-hour tape, or exercise test.
♦ A number of features on the ECG that signify slowed conduction of the electrical impulse in the right ventricle.
♦ Marked enlargement of the right ventricle and left ventricular involvement.
Clinical experience suggests that ARVC can be characterised by hot phases, during which the disease process becomes active and patients are at risk of sudden death. The onset of sustained palpitation, dizzy spells, or blackouts may herald a ‘hot phase’.
Seeking urgent medical attention is recommended so that appropriate treatment can be started, where necessary. In between these hot phases, the disease usually settles down and becomes inactive again.
Since ARVC is a progressive condition, investigations are often repeated at each follow-up appointment to monitor for changes that might signify increased risk.
♦ The implantable cardioverter-defibrillator (ICD) is the best available protection against sudden cardiac death
Much attention has centred on the link between ARVC and sudden death in young athletes. Even patients with the early, concealed phase of the disease (section 2.4) may be at risk of dying suddenly during highly strenuous activity.
The exact mechanism is unclear, but elite athletes are known to push themselves beyond the limits of ordinary human endurance at a major event. High levels of adrenaline, abrupt changes in heart rate, increased stretch of the right ventricle, and diminished awareness of pain, may all contribute to the heightened susceptibility to ventricular arrhythmia.
Patients with a probable or confirmed diagnosis of ARVC are, therefore, advised not to participate in competitive sports. Recreational activity may continue, provided that it does not involve extreme physical exertion. People diagnosed with ARVC should always consult their cardiologist before starting any exercise programme.
The following medication is commonly used to suppress ventricular arrhythmia in ARVC:
♦ Beta-blockers. (Examples: atenolol, bisoprolol, metoprolol and carvedilol) In simple terms, beta-blockers interfere with the action of adrenaline on the heart. Since adrenaline seems to play a role in causing rhythm disturbances in ARVC, beta-blockers are often the first-line treatment. They are usually well tolerated.
Common side effects include fatigue, cold hands and feet, and sleep disturbances. Switching to a different type of beta-blocker may be helpful in combating a particular reaction. Beta-blockers are prescribed only with the greatest of caution in asthmatics, as they may increase the frequency and severity of attacks.
Amiodarone is a powerful anti-arrhythmic agent that is effective against many different rhythm disturbances. However, careful observation is required for a number of possible drug reactions.
Anti-arrhythmic agents are classified by their mechanism of action into four categories. Beta-blockers comprise class II, while amiodarone belongs to class III. Sotalol shares some of the properties of both class II and class III agents and is recommended by some authorities for the treatment of ARVC.
Sotalol’s side effects are generally those of the beta-blockers, with one important addition: sotalol can cause, in some people, a type of ventricular arrhythmia called torsades de pointes, which is otherwise not a feature of ARVC. The cardiologist will check certain measurements on a patient’s ECG before commencing sotalol, or increasing the dose.
Patients taking sotalol are advised to seek medical attention if they experience diarrhoea, vomiting, increased sweating, or poor appetite. All of these symptoms may result in a drop in the potassium level, which aggravates the tendency towards this unusual rhythm disturbance.
Occasionally a rhythm disturbance becomes continuous and fails to respond to medication. A controlled electric shock may be effective in returning the heart to its normal rhythm. If the rhythm disturbance reduces the pumping efficiency of the heart, and causes a fall in blood pressure, an emergency DC cardioversion may be necessary.
Day case admission is arranged for stable patients. Following a couple of hours fasting, a short general anaesthetic is given. Whilst the patient is asleep an electric shock is applied to the chest to correct the heart rhythm. Transient discomfort in the chest wall, similar to mild sunburn, is the most common aftereffect.
Patients with recurrent ventricular tachycardia, who do not respond to antiarrhythmic drugs, or have unacceptable side effects, may be offered catheter ablation.
Abnormal electrical circuits within the heart muscle are identified during an electrophysiological study. This is a procedure similar to an angiogram. However, instead of studying the coronary arteries radiofrequency energy is carefully applied to interrupt these circuits in the hear muscle. This should prevent the rhythm disturbance from occurring. Unfortunately, because of the progressive nature of the disease, ventricular tachycardia often reoccurs in a different area of the heart.
The ICD is a specialised pacemaker that is capable of sensing and correcting rhythm disturbances. It has two main components: the pulse generator,
containing electronic modules and a battery. It is sited beneath the skin near the collarbone; and wires (leads) connected it to the heart.
If the ICD detects ventricular tachycardia, it delivers a rapid series of small electrical impulses to the heart. This is termed overdrive pacing and is often successful in restoring a normal rhythm. Palpitations are the main symptom. If overdrive pacing does not work, the ICD attempts to terminate the ventricular tachycardia by applying a controlled electric shock, in much the same way as a DC cardioversion.
The patient will feel a sudden jolt to the chest as the shock is delivered. Ventricular fibrillation is treated in the same way. However, since most patients black out during a ventricular fibrillation arrest, they do not feel the ICD discharging.
Regular outpatient checks are necessary to ensure that the ICD is working properly. The battery usually lasts between 4-8 years, after which it needs replacing.
An ICD may be offered to patients under the following circumstances:
♦ Recurrent VT that is unresponsive to medication
Figure 9 – Implantable Cardioverter Defibrillator
Progressive dilation of the ventricles and weakening of the pumping action of the heart can be controlled, or even, to some extent, reversed, by a number of drugs. While not of proven benefit in ARVC, large randomised controlled trials have demonstrated their effectiveness in patients with poor pump function from other causes.
♦ Angiotensin Converting Enzyme (ACE) inhibitors. (Examples: ramipril, lisinopril, perindopril, enalapril)
ACE inhibitors may cause a fall in blood pressure, particularly in patients who are also taking diuretics (water tablets) to reduce fluid retention. For this reason, doctors may advise patients to take the medication in bed, just before going to sleep, and to look out for symptoms of giddiness or light-headedness. The blood pressure should be checked at intervals during therapy, and blood tests to assess kidney function may also be necessary.
Another common side effect of this class of drugs is a persistent dry cough.
♦ Angiotensin Receptor Antagonists. (Examples: valsartan, losartan, candesartan, and irbesartan)
These are similar in action to the ACE inhibitors, but do not cause the dry cough. Side effects are usually mild and include a drop in blood pressure, nausea, and flu-like symptoms.
♦ Beta blockers (see above), typically used to treat a weak pumping function of the heart.
It is worthwhile for all immediate family members of a patient with ARVC to receive screening. This includes parents, siblings, and children. Questions may be asked about any history of sudden death or heart problems within the family. A family tree is often constructed, examples of which are shown in Figures 3 and 4. Doctors may also recommend that other relatives (e.g., uncles, aunts, cousins), undergo screening. Tests performed during screening are those described in diagnosing the condition, e.g. ECG, Echocardiogram.
Since effective treatments exist to prevent the complications of ARVC, timely diagnosis has clear benefits. Because of the progressive nature of ARVC, a negative screen at any particular age does not rule out the condition developing in later life. Relatives with normal investigations may therefore be advised to reattend periodically for screening.
Gene identification studies are currently in progress. Patients and relatives may be requested to provide a blood sample for genetic analysis. Counselling is provided beforehand. A negative genetic test offers a lifetime of reassurance, averting the need for repeated investigations and screening of children.
Since ARVC demonstrates incomplete penetrance, a positive genetic test does not necessarily mean that the person will develop the condition. However, regular checks are recommended for gene carriers to assess for signs of the disease.
The final decision about whether to undergo screening investigations or genetic testing rests entirely in the hands of the individual concerned.
♦ Genetic analysis to identify the mutations that can cause ARVC. DNA testing may ultimately solve the problem of family screening and early diagnosis.
♦ Expression studies. Simply detecting the abnormal genes does not explain how they affect the heart and skin to produce the disease. To answer this question, the abnormal genes are introduced into cells grown in the laboratory. The properties of the cells expressing the mutant protein are then examined.
♦ Imaging with 3D echo and cardiac magnetic resonance. Clinical trials are in progress to establish the role of the newer imaging techniques in the diagnosis of ARVC.
♦ Electrophysiological studies. Rhythm disturbances can occur in ARVC in the absence of obvious structural abnormalities in the heart. Determining the mechanism by which the arrhythmia occurs may enable us to detect the disease in its early stages, and to design specific therapies.
♦ Risk stratification. We are looking for more definitive ways of identifying patients at risk of sudden cardiac death, who may benefit from ICD insertion. Compiling the results of clinical investigations and comparing them to outcomes in large groups of patients will improve our understanding of disease course in the long-term.
The general advice to patients with suspected ARVC is as follows. Participation in competitive sports and endurance training is discouraged, but recreational activity may continue, provided that it does not involve extreme physical exertion. There is no specific restriction on the type of activity; we simply recommend that you do not push yourself to the limit. The key is to learn to listen to your body, and to stop exercising at once if you experience palpitations, chest pain, or light-headedness. These symptoms should be reported to your doctor, who may arrange for further evaluation and initiate or alter treatment accordingly.
Fainting during strenuous activity calls for prompt medical attention.
Prolonged standing in hot conditions and very hot baths or showers may also predispose to fainting and should be avoided. Severe diarrhoea and/or vomiting interfere with the absorption of medication and may cause dehydration and chemical imbalance. Medical advice should be sought.
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 to 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 a current ‘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 and unable to concentrate, irritable or with poor sleep. Anxious people experience bodily 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.
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 and attention. Learning to relax is a slow process, like learning to play the piano, and needs to be practiced regularly, rather than to be relied on in a crisis. Health care professionals can teach relaxation techniques, but it is possible to use a variety of books and tapes, (see below). 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, tranquillizers, 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 longerterm treatment. Sometimes anti-depressants can be useful for chronic anxiety.
Feeling fed up or miserable is normal, and feelings like this usually don’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 recognize how depressed we are. Sometimes we pay more attention to our physical symptoms than our psychological state. Physical symptoms such as chest pain can actually 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.
A regular active routine can be effective for mild depression. Having cardiomyopathy restricts vigorous exercise and you should consult with 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 actually 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 are persisting for a long time, then is the time to seek help, and you should approach your family doctor. Professional help is often necessary, usually treated by family doctors who may 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 help 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 for your doctor, 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 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.
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
Anxiety and Depression by Robert Priest (McDonald and Co.)
Don't Panic: a guide to overcoming panic attacks by Sue Breton (McDonald and Co.)
Living with Fear by Isaac Marks (McGraw Hill)
Peace from Nervous Suffering by Claire Weekes (Angus and Robertson)
Self-Help for your Nerves by Claire Weekes (Angus and Robertson)
The Mitchell Method of Relaxation Laura Mitchell, 8 Gainsborough Gardens, London NW3 1BJ.
The feeling that your heart has skipped a beat, or given an extra beat, usually signifies the presence of ventricular premature beats (VPBs). Ventricular Premature Beats are harmless in themselves, and often go unnoticed; however, if the symptoms are becoming troublesome, it is sensible to mention them to your doctor. Beta-blockers often provide relief.
An emergency consultation is advised if you experience any of the following:
- A prolonged or rapid burst of palpitation
- Palpitation accompanied by light-headedness, chest pain, nausea,or shortness of breath
- The sensation of being about to faint (pre-syncope), or actual loss of consciousness (syncope)
The above symptoms are suggestive of ventricular tachycardia, which is a potentially dangerous rhythm disturbance. Light-headedness and syncope may be indications that the heart is not pumping enough blood to the brain. Please seek medical advice at the earliest possible opportunity.
Women with ARVC can have successful pregnancies and normal deliveries. A few pointers to bear in mind:
- If you are taking any medication, for either rhythm disturbances or impaired pump function, a planned pregnancy is advised. Some of the drugs used in the treatment of ARVC may affect the developing baby. However, this must be weighed against the risk to both mother and child if arrhythmia and pump dysfunction are not adequately treated. There may be alternatives available, so we recommend consulting your cardiologist before attempting to conceive.
- Pregnancy does place an extra strain on the heart. We advise notifying both your cardiologist and your obstetrician early on, so that your care can be tailored accordingly. The cardiologist may wish to see you on a more frequent basis during your pregnancy.
- Severe morning sickness can result in dehydration and chemical imbalance, which is more hazardous for patients with a heart condition. Any medication you are taking may not be properly absorbed. Let your doctor know if you are experiencing frequent or heavy vomiting.
- Discuss issues surrounding the birth of your baby well in advance of your due date. If you are considering an epidural for pain relief, mention this to your doctors; the anaesthetist will be extra cautious to avoid any sudden drop in blood pressure.
Some people with ARVC are hesitant to become parents because of the risk of their children inheriting the condition.
With the most common autosomal dominant mode of transmission (section 2.2), there is only a 50% chance of a child acquiring the gene from a parent.
Furthermore, incomplete penetrance ensures that not every one carrying the gene will develop the disease. The severity of symptoms and risk of complications varies greatly among affected individuals. Finally, effective therapies are available for preventing and alleviating the complications of ARVC, and will undoubtedly improve in years to come.
While the decision to start a family is, of course, a personal choice, the genetic risk alone need not deter you. We do, however, encourage participation in a screening programme from early adolescence; your cardiologist will advise you of the age from which your children may benefit.
♦ My GP doesn't seem to know much about my condition. How can I help him/her to understand my condition better?
Supplying your GP with a copy of this booklet may be helpful. There are a number of excellent medical websites that provide information on the subject, and clinical reviews are available in the medical literature. Many specialists are more than happy to address the concerns of their colleagues in general practice directly.
♦ Will ARVC affect my sex life?
There is no reason why the condition should prevent you from enjoying a full and satisfying sex life. Occasionally, some of the medication used to treat ARVC – particularly beta-blockers – can cause impotence and diminished libido.
♦ Are there any occupations I should avoid? Can I continue to drive?
Patients with ARVC are generally discouraged from careers in competitive sports (pages 17, 25), the military, the police force, commercial flying, and vocational driving. The Driver and Vehicle Licensing Agency (DVLA) has issued separate guidelines for the two main groups of license holders:
It is also advisable to discuss your suitability for driving with your cardiologist.
♦ How will smoking affect ARVC?
We currently have no data to suggest that smoking exacerbates ARVC. However, there is compelling evidence of the link between smoking and ischaemic heart disease (i.e., angina, heart attacks, and resulting pump weakness), which remains one of the leading causes of death in the western world. Patients with pre-existing cardiac disease such as ARVC are strongly advised not to risk any further damage to their hearts. Other diseases associated with smoking include bronchitis, emphysema, and cancers of the lungs, mouth, gullet, bladder, and cervix.
♦ How will recreational drugs (marijuana, cocaine, ecstasy) affect someone with ARVC?
- Cocaine is known to cause ventricular arrhythmias, heart attacks, and sudden death in otherwise healthy individuals. The risk is amplified in people with underlying heart disease, such as ARVC. One of the effects of the drug is to augment the action of adrenaline. Since adrenaline may be a key precipitant of arrhythmia in ARVC, there is compelling reason for anyone suspected of having the condition to avoid using cocaine.
- Ecstasy increases the net release of adrenaline-like hormones, producing elevated heart rate and blood pressure. The diseased heart is less likely to tolerate the increased workload, and pump function may be significantly impaired. Serious rhythm disturbances have been reported in otherwise healthy young people and may be more likely to occur in those who are already prone to arrhythmia.
Ecstasy affects the ability of the body to regulate internal temperature; when coupled with prolonged dancing at ‘raves’, profuse sweating occurs, with consequent dehydration and salt depletion. Large quantities of water are often drunk to counteract this problem. Unfortunately, the drug also promotes water retention by the kidneys, and without concomitant salt intake, paradoxical water-intoxication may result. Both extremes of fluid balance and the accompanying sodium shifts are more dangerous in those with underlying heart disease.
- Marijuana (cannabis, pot, hash, grass) is the most widely used recreational drug. Stimulant effects are observed; the heart rate rises, as does the blood pressure when the person is lying down; a sudden drop in blood pressure may occur when he/she stands up.
The heart has to pump harder and demands more oxygen, while the oxygen-carrying capacity of the blood is compromised by the carbon monoxide present in the smoke.
Young, healthy users seldom run into problems, although occasional cases of myocardial infarction, stroke, and sudden cardiac death are described. Some authorities report rhythm disturbances, although this is controversial. Marijuana use is considered a health risk in people with pre-existing heart disease, such as ARVC, owing to the greater cardiac workload, high adrenaline levels, fluctuations in blood pressure, and reduced oxygen content of the blood.
♦ How do caffeine and alcohol affect someone with ARVC?
Patients with a predisposition to rhythm disturbances are cautioned against taking excess stimulants, such as caffeine. Caffeine is found in tea, coffee, chocolate, and cola. Alcohol, in contrast, is considered a depressant; heavy consumption can cause a reduction in pump function, and has also been known to provoke arrhythmia. Of course, you can still enjoy a cup of coffee, a bar of chocolate, or a glass of wine – in moderation. Bingeing is not recommended. Certain nasal decongestants and cold remedies contain an ingredient called pseudoephedrine, which also has a stimulant action; these products are best avoided in ARVC.
♦ Did my diet cause the fatty tissue in my heart?
No. The ability of heart muscle cells to regenerate is limited; loss of the cells as part of the disease process results in their replacement by scar tissue and fat. This is thought to be one of the natural repair processes of the body (section 2.3). However, we do recommend a sensible cardiac diet to reduce the risk of coronary artery disease. This should be low in saturated fat and refined sugar, and contain plenty of fresh fruit, vegetables, and oily fish
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).
ANTICOAGULATION: Treatment to reduce the clotting ability of the blood, commonly using drugs such as heparin or warfarin. Such treatment is used when there is a risk of clot formation in the heart, e.g. in atrial fibrillation, (see below).
AORTA: The main blood vessel, which arises from the left ventricle and carries the oxygenated blood from the heart to the rest of the body.
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 breathlessness 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.
ATRIAL FIBRILLATION: A common type of arrhythmia. It begins in the atria and may be transient, (paroxysmal), or persistent. The heart rhythm is irregular and often rapid.
AUTOSOMNAL DOMINANT PATTERN OF INHERITANCE: Where a condition is transmitted in a family from one generation to the next without skipping any generations.
AUTOSOMNAL RECESSIVE PATTERN OF INHERITANCE: This is where an individual is only affected if they inherit two copies of the gene, one from each parent.
AV NODE: Specialised area of tissue situated at the junction between the right atrium and the ventricles through which the impulse from the SA Node passes before travelling down the bundle branches causing the ventricles to contract.
BUNDLE BRANCHES: Conduction pathways in the heart, which transmit the electrical impulses to the heart muscle.
CARDIAC CATHETERISATION: A special test used for many forms of heart disease, which is sometimes performed in ARVC. 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; cardio refers to the heart and myopathy means an abnormality of muscle.
DEFIBRILLATION: An emergency procedure performed during a cardiac arrest where an electrical impulse is delivered to correct a life threatening arrhythmia.
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 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 ARVC can also be assessed.
ECHOCARDIOGRAM: A non-invasive test where images of the heart can be obtained through the use of high frequency sound waves.
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.
ELECTROCARDIOGRAM (ECG): A non-invasive test where a tracing of the passage of electrical impulses through the heart muscle is obtained.
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 inner lining of the heart, which can rarely occur in cardiomyopathy. 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.
ENDOMYOCARDILA BIOPSY: A procedure where a small portion of heart muscle tissue is taken for microscopic analysis.
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, which 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 one's mother and the other from one's 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. This results in an abnormally slow heart rate. This situation can be diagnosed on ECG. If it occurs, a pacemaker is often implanted.
HEART FAILURE (CONGESTIVE CARDIAC FAILURE): A condition where weakness of the pumping action of the heart causes fluid retention and symptoms of shortness of breath and tiredness on exercise. It can be associated with heart rhythm irregularities.
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 heartbeat, otherwise known as arrhythmia.
IMPLANTABLE CARDIOVERTER DEFIBRILLATOR (commonly abbreviated to ICD): A specialised device, which is implanted in a similar way as a pacemaker. It can recognise 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. The ICD can also serve as a conventional pacemaker to deliver the necessary impulses when the heart rate is too slow.
IMPLANTABLE LOOP RECORDER: This is a small device, which can be implanted to assist the diagnosis of an arrhythmia. The patient activates the device when symptoms occur to record any rhythm disturbance.
INCOMPLETE PENETRANCE: This is where an individual has inherited the gene but has not progressed to display any features of the condition.
MUTATION: A genetic defect that causes a change in the normal DNA code.
MYOCARDIUM: The specialised muscle that makes up the walls of the heart. It is this part of the heart which is abnormal in ARVC.
MYOSIN: A protein within each muscle cell that is involved in the normal contraction of the muscle.
OBLIGATE CARRIER: This is where an individual carries the gene mutation but has not developed the condition.
PACEMAKER: When the normal electrical impulse fails to be transmitted to the ventricles a pacemaker is implanted. This involves inserting a small box containing a battery under the skin of the chest, with a fine wire going through the veins to the heart, to deliver the necessary electrical impulses.
PALPITATION: An uncomfortable awareness of an irregularity or change in the heartbeat. Palpitation may be due to a normal heartbeat made more prominent by anxiety or exercise, or may be caused by an arrhythmia.
PRE-SYNCOPE: Symptoms causing a near faint, but without actually losing consciousness.
SEPTUM: The dividing muscular wall between the right and left ventricles
SINUS NODE: An area of specialised tissue in the right atrium which initiates impulses to make the heart beat regularly.
SIGNAL AVERAGE ECG: A more sensitive type of ECG designed to record more detailed information of the hears electrical activity.
VENTRICLES: The main pumping chambers of the heart, one on the right side and one on the left.
VENTRICULAR FIBRILLATION: An arrhythmia arising in the ventricles where the electrical activity of the heart is chaotic. The heart’s pumping action is uncoordinated resulting in a lack of output of blood. Emergency resuscitation is required to correct this arrhythmia.
VENTRICULAR TACHYCARDIA: A type of arrhythmia, which takes the form of a fast heartbeat arising in the ventricles.
VENTRICULAR PREMATURE BEAT (VPB): An extra beat of the heart due to an electrical impulse arising from the ventricles. Also known as premature ventricular contraction or ventricular ectopic.
Dedicated to Damian McLoughlin, who died age 20 of cardiomyopathy. This site is supported by Damian's family and friends.
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