Arrhythmogenic right ventricular cardiomyopathy is the name given to a heart disease.
What is arrhythmogenic right ventricular cardiomyopathy?
Arrhythmogenic right ventricular cardiomyopathy (ARVCM) is a heart disease that is already congenital. In earlier times, it was also called arrhythmogenic right ventricular dysplasia (ARVD). It is one of the cardiomyopathies in which there is a structural loss of the heart muscle tissue. This in turn leads to a loss of cardiac output. Cardiomyopathy is manifested by cardiac insufficiency. In extreme cases, sudden cardiac death of the affected person is even possible. Arrhythmogenic right ventricular cardiomyopathy usually occurs between the ages of 15 and 40. In contrast, older people over the age of 60 are more rarely affected. Men are more likely to suffer from ARVCM than women. In addition, they also experience a more intense course of the heart disease. It is not uncommon for arrhythmogenic right ventricular cardiomyopathy to manifest itself in athletes and in some cases is considered a cause of sudden cardiac death. There are major regional differences in the incidence of ARVCM. For example, it is much less common in the United States of America, with an incidence of 1:100,000, than in Europe, where it affects one in 10,000 people. Northern Italy and the Greek island of Naxos are particularly affected by cases of arrhythmogenic right ventricular cardiomyopathy. There, ARVCM occurs in one in 1,000 people. In Italy, medical experts even rank cardiomyopathy as the most common cause of death in young athletes.
Causes
The exact causes for the development of arrhythmogenic right ventricular cardiomyopathy are as yet unknown. What is clear, however, is that it runs in families, which is why many physicians suspect genetic factors as triggers of the heart disease. Three loci have been found between chromosomes 14 and 1. However, several factors are thought to be responsible for the extent and course of ARVCM. During arrhythmogenic right ventricular cardiomyopathy, fat deposits and connective tissue accumulate within the muscle tissue of the right ventricle. As a result, contractions of the ventricular muscles are disrupted. Sometimes these can lead to a complete loss of function. Thus, there is a disturbance of the myocardial electrical excitation conduction, the propagation of which is from the sinus muscle through the musculature of the right heart. This threatens severe cardiac arrhythmias including life-threatening arrhythmias. Due to ventricular fibrillation, sudden death of the patient may result.
Symptoms, complaints, and signs
Arrhythmogenic right ventricular cardiomyopathy is noticeable by cardiac arrhythmias such as palpitations or palpitations, which are experienced as very unpleasant. Some patients also suffer from disturbances in their consciousness as well as fainting spells. If ARVCM takes a severe course, the signs of right heart failure occur. These include edema (water retention) in the arms and legs, congested neck veins, enlargement of the liver, and blue lips. If sporting activities are practiced, sudden cardiac death due to acute heart failure is imminent in the worst case. Complaints do not notice the affected person in advance thereby.
Diagnosis and course
To diagnose arrhythmogenic right ventricular cardiomyopathy, extensive investigations are required. Because the heart disease often occurs more than once in families, a family history is considered helpful. One of the most important examination procedures is the ECG. A resting ECG often reveals characteristic changes. A long-term ECG or an exercise ECG can also detect cardiac arrhythmias. In the case of competitive athletes, a diagnosis can also be made without symptoms by means of a screening examination. Echocardiography is used to assess the performance of the heart. If there are clear grounds for suspicion, a cardiac catheterization is performed. During this procedure, the physician measures the pressure conditions in the heart, which are altered by ARVCM. In some patients, the detection of arrhythmogenic right ventricular cardiomyopathy takes place through direct detection of fatty or connective tissue deposits by performing a biopsy (tissue sampling) of the heart muscle.To obtain the tissue sample, the doctor pushes a catheter in the direction of the heart via a large vein, such as in the groin. He then uses a small forceps to take a small sample of the tissue. Myocardial biopsy is considered very safe and is a routine medical procedure. Local anesthesia at the catheter entry site is usually sufficient. Four to five tissue biopsies are usually required to investigate arrhythmogenic right ventricular cardiomyopathy. It is not uncommon for ARVCM to take an unfavorable course. For example, sudden cardiac death occurs in about 70 percent without treatment. However, if the cardiac arrhythmias can be suppressed, life expectancy is hardly reduced.
Complications
In most cases, cardiomyopathy causes symptoms of the heart that can complicate the patient’s daily life. Many suffer from severe palpitations or palpitations. These complaints occur mainly during physical activities or sports and can thus restrict the patient’s movement and activity. The quality of life is reduced as a result. It is not uncommon for patients to also suffer a loss of consciousness and faint. This can result in various injuries. Likewise, the undersupply of oxygen results in blue lips and blue-colored extremities. The liver also enlarges, which can lead to pain. Legs and arms suffer from water retention and may swell. If the affected person continues to stress the body, death may occur in the worst case due to acute heart failure. Often, the symptoms first appear acutely. Cardiomyopathy is usually treated with the help of medication. Operatively, a defibrillator is used, which can save the patient’s life in serious situations. As a rule, life expectancy is reduced by the disease.
When should you go to the doctor?
Since this complaint is a disease of the heart, it must definitely be examined and treated by a doctor. If this does not result in treatment, this disease can also lead to the death of the affected person in the worst case. The patient should then consult a doctor if he or she experiences palpitations or fainting spells. Other disorders of consciousness may also indicate the disease and should be examined by a doctor. In many cases, there is also a blue discoloration of the skin due to the reduced supply of oxygen to the skin. Right heart failure may also point to this disease and must be examined. Furthermore, those affected not infrequently suffer from permanent fatigue and exhaustion. A doctor must be consulted for these complaints as well. Acute emergencies, however, should be treated directly in a hospital or by an emergency physician. As a rule, this condition is treated by a cardiologist. Early diagnosis can prevent various complications and subsequent damage.
Treatment and therapy
Special treatment is not necessary for every ARVCM patient, provided there are no symptoms. However, intensive sports and heavy physical activities must be avoided. If therapy for arrhythmogenic right ventricular cardiomyopathy is required, the patient receives medications such as calcium antagonists and beta blockers. Calcium antagonists, such as diltiazem and verapamil, inhibit calcium influx into the cells, thereby reducing excitation formation as well as excitation propagation. In this way, the patient’s heartbeat is slowed down. Calcium antagonists are class IV arrhythmic drugs. Beta-receptor blockers such as propanolol and metoprolol are used to treat heart failure and high blood pressure. By blocking the beta receptors, they ensure that the excitability of the heart muscle is reduced, resulting in a slower heartbeat. Beta-blockers are considered class II arrhythmics. If there is a high risk of sudden cardiac death, the patient receives class I and III arrhythmics, and a defibrillator is also implanted.
Outlook and prognosis
The disease has an overall unfavorable prognostic outlook. With current medical options, there is no treatment or therapy that leads to a complete cure of the disease. Very successfully, the administration of drugs treats the sequelae of the disease.However, after discontinuation of the medication, the symptoms return. In severe cases, the patient may die. Nevertheless, many patients with arrhythmogenic right ventricular cardiomyopathy are able to lead an undiminished and unimpaired life. This depends on their lifestyle as well as the occurrence of possible symptoms. There are patients who have been diagnosed with arrhythmogenic right ventricular cardiomyopathy and yet are completely symptom-free. These patients are cautioned to avoid engaging in athletic or physically intense tasks in the future, if possible. Under these conditions, life is possible without further medical consultation. The average life span is not shortened in these people. Most patients are in young and middle adulthood and have symptoms. They are treated with medication for their symptoms. Additionally, have an increased risk of dying from sudden cardiac death. The risk of death increases as soon as the patient engages in heavy physical activity, thereby underestimating his or her decreased level of performance.
Prevention
Preventive measures against arrhythmogenic right ventricular cardiomyopathy are not known. Thus, the exact causes of congenital heart disease remained unclear.
Follow-up
In any case, the sufferer of this disease is primarily dependent on medical examination and diagnosis to prevent further complications or discomfort. The earlier this disease is detected and treated, the better is usually the further course, since it can also not come to a self-healing. Therefore, the early diagnosis with an early treatment is in the foreground with this disease. In the worst case, if left untreated, it can lead to the death of the affected person. However, there are no special aftercare measures available to the affected person. In general, a healthy lifestyle with a healthy diet has a very positive effect on the further course of the disease. The treatment itself is carried out with the help of medication. These should always be taken regularly and according to a doctor’s instructions, and the correct dose should also be observed. In cases of doubt or ambiguity, a doctor should be contacted. Furthermore, the affected person should also regularly check the blood pressure and contact the doctor in case of hypertension. Whether the disease reduces life expectancy cannot be universally predicted.
Here’s what you can do yourself
A diagnosis of arrhythmogenic right ventricular cardiomyopathy allows you to live with few limitations. In addition to adherence to medication and regular cardiological checkups, affected individuals should, above all, avoid heavy physical stress at work and during leisure time. In particular, intensive competitive and endurance sports, such as basketball, handball, track and field tennis or diving, lead to high stress on the cardiovascular system and are unsuitable. Cycling or skiing should also only be done with caution. Suitable activities include golf, bowling, billiards or curling. In the case of children, educators, teachers or trainers should be informed about the condition. The load in physical education should ideally remain in the aerobic range. Performance should not be overestimated even if the patient is free of symptoms. There are no general vacation or travel restrictions. However, some airlines issue information for passengers with cardiovascular disease. Those affected have few other self-help options or specific preventive measures. The general behavioral guidelines for diseases of the cardiovascular system apply. Regular moderate exercise and a healthy diet rich in vitamins and minerals (especially vitamin E, zinc and magnesium) help to strengthen the heart muscles. Stressful factors such as alcohol and nicotine are excluded. Flu infections and colds have a negative effect on the performance of the heart. Annual vaccinations against influenza are useful and recommended by many physicians.
