Hypertrophic cardiomyopathy (HCM) is a genetic disorder of the heart muscle characterized by abnormal hypertrophy of the myocardium, leading to dysfunction. This disorder most often affects the left ventricle of the heart, which can lead to narrowing of the outflow tract, abnormal heart rhythms, and even heart failure. HCM can affect people of all ages and often remains asymptomatic, making its diagnosis challenging. The disease is caused by mutations in several genes responsible for structural proteins of the heart and has a variety of clinical manifestations. It is important to emphasize that not every person with a mutation in the relevant genes will have clinical symptoms; genetic predisposition, environmental factors, and physical activity play a key role in the severity of the disease.
History of the disease and interesting historical facts
Hypertrophic cardiomyopathy was first described in the early 20th century, although paleopathological studies indicate the existence of similar pathology in ancient times. One of the first researchers to systematically study HCM was the American cardiologist Dr. Paul Wood, who in the 1950s significantly advanced the understanding of the disease. A notable feature of HCM is its association with sudden heart failure in athletes, which has led to a large number of studies and the question of the safety of sports activities for patients with this diagnosis. Historically, patients with this pathology often remained unnoticed by doctors due to the lack of pronounced symptoms, but with the development of diagnostic technologies, the cause of sudden cardiovascular incidents has become more understandable.
Epidemiology
According to modern studies, HCM has an early incidence estimated at approximately 1 case per 500 people in the population. However, this figure may vary depending on the region and ethnicity. The disease is most often detected in people aged 20 to 60 years, and there is a significant predominance among men. Due to the hereditary nature of the pathology, even in the same families there may be a high frequency of cases, which makes the analysis of the epidemiology of HCM in some populations particularly relevant. Studies show that heart diseases associated with hereditary mutations are not yet sufficiently covered by systematic examinations, which emphasizes the need for active search and detection of HCM cases.
Genetic predisposition to this disease
Hypertrophic cardiomyopathy is most often inherited in an autosomal dominant pattern. The most commonly involved genes are:
- MYH7 (β-myosin heavy chain)
- MYBPC3 (cardiomyosin)
- TNNT2 (troponin T)
- TPM1 (aliphatic tropomyosin)
- ACTC1 (cytosolic actin)
These genes contain mutations that lead to disruption of the structural integrity of the myocardium and the functional characteristics of cardiomyocytes. These mutations can manifest themselves with varying degrees of severity, which explains the variability of clinical manifestations of HCM in different patients. Scientists continue to study the influence of other genetic factors, such as polymorphisms and epigenetic modifications, on the risk of developing the disease, as well as the interaction of various genes within the framework of a multigenic predisposition.
Risk factors for the development of this disease
There are several risk factors that contribute to the development of hypertrophic cardiomyopathy:
- Heredity - if there are cases of hypertrophic cardiomyopathy in the family, the risk increases significantly.
- Exercise - Moderate exercise is usually safe, but excessive exercise may trigger latent forms of the disease.
- Age - a higher predisposition is observed in young people, especially athletes.
- Some disease systems, such as syndromes associated with mutations in the same genes as HCM, may serve as a risk factor.
- Overweight and metabolic disorders - Metabolic disorders are associated with the risk of cardiovascular disease.
The influence of the environment is also important: high levels of stress, bad habits, including smoking and alcohol abuse, can also contribute to the progression of the disease.
Diagnosis of this disease
Diagnosis of hypertrophic cardiomyopathy is based on clinical examination and physical examination. The main symptoms to look out for include:
- Shortness of breath during physical exertion and at rest
- Chest pain similar to angina
- Heart palpitations and tachycardia
- Fainting or pre-fainting states.
Laboratory tests include complete blood count, blood chemistry, and electrocardiography (ECG), which may show characteristic changes. Radiologic examinations, such as chest radiography and echocardiography, are key to confirming the diagnosis. Echocardiography allows visualization of myocardial hypertrophy, assessment of cardiac function, and exclusion of other diseases. Magnetic resonance imaging (MRI) may be required for a more detailed assessment of the heart. Differential diagnosis is necessary to exclude other possible causes of hypertrophy, such as hypertension or other myocarditis.
Treatment
Treatment of hypertrophic cardiomyopathy begins with conservative methods. The main principles of treatment include:
- Lifestyle adjustments – encouraging moderate physical activity without overexertion.
- Pharmacological therapy aimed at improving cardiac function and reducing symptoms.
- Surgical intervention in the presence of severe forms of the disease, such as myotomy or remodeling of the heart muscle.
- Educating the patient about the symptoms of the cause of the disease, which will reduce the risk of sudden death from complications.
Pharmacological treatment may include beta blockers, potassium channel blockers, and antiarrhythmic drugs. Surgical treatment is indicated in cases of severe obstruction or significant heart failure. If conservative therapy is ineffective and there is more than 50% of cardiac outflow tract obstruction, myectomy or cardiomyectomy may be performed.
List of medications used to treat this disease
Medications used may include:
- metoprolol
- Atenolol
- Diltiazem
- propafenone
- Ivabradine
- Anticoagulants in case of risk of thrombosis
It is important to note that each treatment should be prescribed individually, taking into account the patient's condition and the specific manifestations of the disease.
Disease monitoring
Monitoring of a patient with hypertrophic cardiomyopathy includes regular examinations using ECG and echocardiography, which allows tracking the dynamics of hypertrophy and identifying possible complications. It is important to carry out control measures during periods of serious physical activity. The prognosis for patients with HCM varies: many people lead a normal lifestyle, but there are risks of sudden cardiac death, especially in athletes. Complications can include arrhythmia, cardiovascular failure, and even thrombosis. The main focus should be on regular medical examinations for timely detection and correction of the condition.
Age-related features of the disease
Hypertrophic cardiomyopathy may present differently depending on the age of the patient. Children and young adults may have a more aggressive course of the disease, including a higher risk of sudden cardiac death associated with physical activity. Older patients tend to have less severe symptoms but have a higher risk of cardiovascular failure. In older people, the disease may be associated with other cardiac problems, requiring a comprehensive approach to treatment and monitoring.
Questions and Answers
- What are the symptoms of hypertrophic cardiomyopathy? The main symptoms include shortness of breath, chest pain and lightheadedness.
- Is it possible to play sports with this pathology? Physical activity should be strictly controlled and certain sports may be contraindicated.
- What is the likelihood of this disease being passed on to children? HCM has an autosomal dominant inheritance, so the risk of transmission is 50% if you have an affected parent.
- What are the diagnostic methods for HCM? The main methods include echocardiography, ECG and MRI.
- How is hypertrophic cardiomyopathy treated? Treatment may include lifestyle changes, drug therapy and, in severe cases, surgery.
Dr. Oleg Korzhikov gives advice: "It is important to remember that HCM can manifest itself asymptomatically. I recommend that every patient, especially if there have been cases of cardiovascular diseases in the family, undergo regular medical examinations. It is important to monitor your feelings and not neglect consultations with a cardiologist. Sports activities should be agreed upon with a doctor to avoid unnecessary risks."
