What does the diagnosis mean and why “heart enlargement” is not yet it
The word "cardiomyopathy" literally means "disease of the heart muscle." The diagnosis is made when the structure and function of the myocardium are impaired, and the usual explanations - narrowing of the coronary arteries, persistently high blood pressure, valve disease - are either absent or do not correspond to the degree of changes. In other words, this is not a description, but a conclusion drawn after excluding other causes.
- The X-ray conclusion “the shadow of the heart is enlarged” is only a reason for echocardiography: a normal cardiac shadow may also look enlarged at a certain position of the diaphragm
- Dilatation of the left ventricular cavity on echocardiography is a finding that requires explanation, and not a ready-made diagnosis
- Athletes' hearts naturally enlarge in response to training, and this is an adaptation, not a disease.
- Long-term high blood pressure leads to thickening of the walls - this is a hypertensive heart, not hypertrophic cardiomyopathy
- A previous heart attack with a scar and decreased contractility is also a separate condition, not cardiomyopathy
- A valve defect can stretch the chambers of the heart, and then the valve needs to be treated
- Cardiomyopathy refers to changes that are not explained by the above
Hence the logic of the first visit to the doctor. Having received a conclusion with the wording about an enlarged heart, there is no point in either being scared or calming down - it makes sense to take it to a cardiologist who will compare the EchoCG numbers with blood pressure, ECG, complaints and history. Very often it turns out that the indicators are within the normal range for the patient’s height and weight, and the anxiety arose due to an independent comparison with an average table from the Internet.
Three main types in simple words
The division into types has direct practical significance: treatment, prognosis, and the need to examine relatives depend on it. The easiest way is to imagine the heart as a pump with muscular walls and internal cavities - then each type is described in one phrase.
- Dilated: the cavities of the heart are stretched, the walls are thinned, the muscle contracts weakly. The pump has become large and sluggish, blood is thrown out worse - hence shortness of breath, fatigue and swelling
- Hypertrophic: the walls, often the septum between the ventricles, are excessively thickened. The muscle is strong, but the cavity is small and does not relax well, and the thickened septum sometimes interferes with the release of blood
- Restrictive: the walls are not thickened and contract normally, but the muscle has become stiff and does not stretch well. The heart cannot fill, and the blood stagnates in front of it
- Arrhythmogenic: part of the muscle tissue is replaced by fatty and fibrous tissue, which creates conditions for dangerous rhythm disturbances
- Separately, forms with an established cause are distinguished: alcoholic, postpartum, caused by antitumor drugs, developed after myocarditis
This division also explains the difference in complaints. In the dilated form, signs of heart failure come to the fore: shortness of breath, swelling, fatigue. With hypertrophic - fainting and chest pain during exercise, and in young and apparently healthy people. With restrictive - stagnation with edema and enlargement of the abdomen with seemingly normal contractility on echocardiography, which is often confusing. Understanding the type also determines which drugs will be useful and which are contraindicated: in the hypertrophic form, for example, a number of drugs customary for heart failure worsen the condition.
Hypertrophic cardiomyopathy: why the whole family is examined
This is the most famous and most alarming form. It affects about one in 500 people, is inherited in an autosomal dominant manner—meaning it is about half as likely to be passed on to each child—and remains the leading cause of sudden cardiac death in young people and athletes. The peculiarity is that most carriers have no complaints, and the first manifestation of the disease may immediately be a severe rhythm disturbance during exercise.
- При установленном диагнозе обследование проходят все родственники первой линии: родители, братья и сёстры, дети.
- Базовое обследование включает осмотр кардиолога, ЭКГ и ЭхоКГ — этого достаточно для выявления большинства случаев.
- Детей и подростков of группы риска обследуют повторно с определённой периодичностью: disease может проявиться в период роста, и однократный нормальный результат в детстве не исключает её в будущем.
- Генетическое исследование позволяет установить конкретную мутацию у пациента и затем прицельно проверить родственников; при отрицательном результате у родственника дальнейшее наблюдение часто становится ненужным.
- Allм пациентам оценивают риск опасных нарушений ритма с учётом толщины стенки, обмороков в анамнезе, семейной истории внезапной смерти и данных мониторирования.
- При высоком риске рассматривается имплантация устройства, способного прервать жизнеугрожающую аритмию.
Special mention must be made about sports, because this is where expectations diverge from reality the most. With hypertrophic cardiomyopathy, intense loads, especially competitive ones and those associated with sudden jerks, are limited. The reason is not that the heart “cannot withstand the load” in the mechanical sense, but that the load provokes dangerous rhythm disturbances in the altered muscle. At the same time, moderate activity - walking, calm swimming, cycling at an easy pace - is usually not prohibited, but complete refusal of movement is harmful. The specific volume of permissible load is determined individually by the cardiologist.
Dilated form: when the heart is stretched
With dilated cardiomyopathy, the chambers of the heart become enlarged and the force of contraction decreases. This usually develops gradually, and in the first months a person attributes shortness of breath and fatigue to age, excess weight or lack of exercise. Meanwhile, it is the early stage that is most rewarding for treatment: modern therapy can not only alleviate symptoms, but also significantly improve cardiac contractility, and sometimes almost return it to normal.
- Shortness of breath with exertion, which was previously easy, then with light exertion and at rest
- Inability to sleep horizontally, need for two or three pillows, awakening at night from lack of air
- Swelling of the feet and legs in the evening, later - abdominal enlargement and heaviness in the right hypochondrium
- Rapid weight gain in a few days due to fluid retention
- Fatigue and decreased tolerance to usual activities
- Heart palpitations, irregular heartbeats, episodes of rapid, uneven pulse
- Sometimes the first manifestation is a stroke or thrombosis due to the formation of a blood clot in the distended cavity of the heart
The causes of the dilated form are varied, and searching for them has direct practical meaning. Some cases are hereditary, some develop after myocarditis, some are associated with long-term alcohol abuse, some are associated with long-term high heart rates due to untreated arrhythmia, and some are associated with the use of certain antitumor drugs. A special form develops at the end of pregnancy and the first months after childbirth. Establishing the cause changes the tactics: in the alcoholic form, complete abstinence from alcohol is key; in the arrhythmogenic form, restoring the rhythm is key, and in both cases, contractility can be significantly restored.
Examination: what does EchoCG show and when is an MRI needed?
The main diagnostic method is echocardiography. It is accessible, does not involve radiation, takes little time and answers most questions: what are the dimensions of the chambers, what is the thickness of the walls, how efficiently the heart ejects blood, is there an obstruction to blood flow and what is the condition of the valves. This is where they begin if any form of cardiomyopathy is suspected.
- ЭхоКГ — размеры полостей, толщина стенок, фракция выброса, оценка расслабления миокарда и градиента давления при гипертрофической форме.
- ЭКГ — изменения нередко появляются раньше, чем структурные, и у родственников пациентов ЭКГ иногда становится первым настораживающим признаком.
- Суточное мониторирование ритма — выявляет скрытые нарушения, определяющие риск и необходимость устройства.
- МРТ сердца — точнее оценивает толщину стенок в труднодоступных сегментах и, что важнее, показывает участки фиброза, помогая оценить риск аритмий и уточнить природу поражения.
- Анализы крови: показатели работы почек, электролиты, гормоны щитовидной железы, ферритин при подозрении на перегрузку железом, маркеры сердечной недостаточности.
- Коронарография или КТ-исследование коронарных артерий, если нужно исключить ишемическую природу изменений.
- Генетическое исследование при семейных формах — оно определяет тактику обследования родственников.
It is worth mentioning separately about the ejection fraction, because this indicator most often causes panic when reading the conclusion on your own. It reflects the proportion of blood that the ventricle ejects per contraction, and reducing it is really important. But, firstly, the method has a natural error and depends on the quality of visualization and the experience of the specialist, secondly, it is the dynamics that matter, not a single figure, and thirdly, modern treatment can significantly increase this indicator in a few months. Therefore, the correct reaction to a reduced ejection fraction is to contact a cardiologist and start therapy, and not to search the Internet for tables that correspond to numbers and prognosis.
Treatment, lifestyle and observation
There is no universal treatment for cardiomyopathy - therapy depends on the type, and drugs that are useful for one form are contraindicated for another. However, the general principle is the same: the earlier treatment is started, the greater the chances of not only containing the disease, but also improving heart function. Much of the current therapy for heart failure has proven to prolong life, not just relieve symptoms.
- Therapy of heart failure in dilated form - several groups of drugs that are prescribed in combination and with gradual dose selection
- In the hypertrophic form, drugs that slow down the rhythm and improve the filling of the heart; a number of means familiar in other forms are unacceptable here
- Rhythm control and prevention of thrombosis in atrial fibrillation, which often accompanies cardiomyopathy
- Implantable devices for high risk of life-threatening arrhythmias and certain conduction disorders
- Surgical or minimally invasive reduction of a thickened septum with severe obstruction to blood flow
- Complete abstinence from alcohol, smoking and energy drinks
- Salt restriction, daily weighing and monitoring the volume of fluid consumed in heart failure
- Vaccination against influenza and pneumococcal infection: respiratory infections often provoke decompensation
It’s worth mentioning separately about physical activity, because two extremes are common here. A complete refusal to move worsens the condition: the muscles detrain, load tolerance drops even faster, and weight increases. Intense competitive loads in most forms, on the contrary, are dangerous. A reasonable middle ground is regular moderate activity, the amount of which is determined by a cardiologist, often as part of a cardiac rehabilitation program. The guideline is the conversation rule: if while walking you can speak calmly, but not sing, the intensity is selected correctly.