Hypertrophic cardiomyopathy: What is it and how does it manifest? + Risks

Hypertrophic cardiomyopathy is a disease of the heart muscle in which the main septum and walls of the heart become inadequately enlarged, and is a congenital disease caused by a gene mutation. The disease is relatively rare in the population and is usually associated with other serious heart diseases such as arrhythmias or heart failure. But it is also the most common cause of sudden death in people under the age of 30, based on extreme physical exertion.

Myocardial hypertrophy with a very small left ventricular cavity also occurs in this disease, which also causes an increase in the function of this part of the heart. A very dangerous complication, which is present in about 1/3 of people, is the formation of subvalvular obstruction , ie the gap between the anterior tip of the chamber and the enlarged septum. The result of the disease is an increase in muscle and a reduction in the heart chamber itself. An irregular  heartbeat often occurs in hypertrophic cardiomyopathy.

The cause of the disease is a genomic mutation and the disease is hereditary. In particular, it is a defect in the gene encoding the protein, and if the heart muscle is made up of proteins produced by the defective gene, it responds by strengthening its walls and muscle and the disease can trigger at virtually any time, but most often is triggered by irregular heartbeat or excessive physical exertion. In some cases, they can also cause death.

The disease causes an enlargement of the myocardium, ie the heart muscle, and so part of the heart is enlarged. In addition, irregular heartbeat, or cardiac arrhythmia, is a typical symptom. In this disease, there is also increased pressure in the atria of the heart and in the venous system, as a result of which the blood also stagnates in the lungs and there is an excessive blood supply to the lungs. This can also be manifested by chest pain, similar to angina pectoris.

In addition, a person has difficulty breathing, which is difficult and in some extreme cases even swelling of the lungs. Excessive physical activity can also lead to impaired consciousness in people with hypertrophic cardiomyopathy, specifically short-term loss of consciousness. The atypical symptoms of the disease include the so-called pleural effusion on the chest between the pleura and the lungs, but this condition is very rare.

Diagnosis includes a medical history and clinical examinations for left ventricular failure, arrhythmias, and enlargement. However, clearly by echocardiographic examination by an erudite cardiologist using provocative maneuvers to determine obstruction in the left ventricular outflow tract. All these examinations, together with the assessment of the symptoms, can lead to a clear diagnosis.

This disease is one of the second most common causes of death at a young age as well as in athletes. The disease most often occurs in the form of visible external symptoms during periods of increased physical exertion, when a person has problems breathing and a regular heartbeat. In some cases, symptoms of heart failure may appear. The growth of the heart muscle is gradual and the disease lasts for a long time, only in rare cases will there be an intense course. In any case, physical activity also poses the greatest risk of death from heart failure.