Hypertrophic cardiomyopathy (HCM) is a disease that affects the myocardium and can have significant effects on the health of those who have it.
This condition is characterized by abnormally increased thickness of the wall of the left ventricle of the heart, which makes the wall less permeable, preventing the normal filling of the left ventricle of the heart with blood.
Hypertrophic cardiomyopathy can affect people of any age, sex, and race and occurs at a frequency of 1:500 to 1:200 in the general population.
The etiology is usually genetic and is due to mutations in the genes that express heart muscle proteins.
There are so far thousands of known mutations in many genes, and hypertrophic cardiomyopathy is the most common genetic heart disease.
The thickening of the wall of the left ventricle of the heart can concern a specific part of the wall, such as the interventricular septum, the apex of the left ventricle, leading to a different morphological type of the disease, but also to problems in the functioning of the heart.
For example, the localization of hypertrophy in the interventricular septum very often leads to a dynamic obstruction within the cavity of the left ventricle, during which the unimpeded outflow of blood from it to the aorta is prevented.
This condition, called hypertrophic obstructive cardiomyopathy (HOCM), is the most common type of the disease, occurring in about 2/3 of patients.
The blockage can be present continuously or caused by some conditions, e.g. physical activity, changing body position, fluid loss or dehydration, taking a meal or alcohol, medicines, including some commonly used antihypertensives.
The presence of obstruction facilitates the suspicion of the disease by medical clinical examination alone, while the electrocardiogram, which is often abnormal, may lead to further control with echocardiography, which is the main tool for diagnosis.
Checking the family of the patient who is first diagnosed is always recommended, with the aim of discovering other people with the condition, who can thus be monitored cardiologically and receive the appropriate treatment in time.
Genetic testing offers further information on the family’s type of disease and pinpoints family members who need further follow-up, as well as those who are exempt from the need for routine investigation.
Wall hypertrophy and intraventricular obstruction make it difficult for the heart to function as a pump, resulting in the heart having to work harder to do its job of meeting the body’s needs.
The result is the symptoms that patients often experience, such as easy fatigue, tachycardia, shortness of breath or chest pain, but also dizziness, fainting or loss of consciousness.
The progression of the condition may also include heart failure with reduced performance of the left ventricle of the heart, as well as the appearance of atrial fibrillation with an increased likelihood of stroke.
Of particular importance is the relatively increased possibility of life-threatening arrhythmias in some patients, with the result that sudden death is the first manifestation of the condition in some.
HCM is also the most common cause of sudden death in young athletes.
Treatment of patients is aimed at relieving symptoms and avoiding progression to heart failure, but also at determining the risk of sudden death and protecting against it with the help of implantable cardiac defibrillators.
The evolution of the treatment of patients with the obstructive type of the disease over the last 2 decades through the interventional treatment with ablation of the septum with ethanol leads to a reduction or even elimination of the obstruction and effectively complements the traditional myectomy operation, which continues to be used with good results in centers with extensive experience in this method.
After many years of research and development, there are now new medicinal substances on the market, which very effectively reduce the blockage, and in our country they are starting to be made available to patients with the appropriate indication.
In previous decades, the prognosis of the disease was considered extremely poor, with a greatly increased risk of sudden death and progression to severe heart failure.
In recent years, the study of the disease shows that this condition should be considered benign for most patients.
Advances in early diagnosis and effective treatment of patients with high-risk characteristics have led to hypertrophic cardiomyopathy now being considered an effectively treatable condition.
The establishment of International Hypertrophic Cardiomyopathy Day aims to raise awareness of the existence and modern diagnosis and treatment of hypertrophic cardiomyopathy.
Associations of patients with hypertrophic cardiomyopathy, such as the HCMA (Hypertrophic Cardiomyopathy Association) in the USA, work in this direction, effectively helping patients and their families to find appropriate medical help in special centers as well as psychological support.
The Hellenic Cardiology Society and the Myocardiopathies, Basic Research and Hereditary Diseases Working Group work with the aim of highlighting and disseminating scientific knowledge for effective diagnosis, risk stratification and effective treatment of patients with hypertrophic cardiomyopathy.
Angelos G. Rigopoulos, Chairman of the Myocardiopathies, Basic Research and Hereditary Diseases Working Group of the Hellenic Cardiology Society
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