Hypertrophic cardiomyopathy is a heart disease that may be asymptomatic for a long time, and only becomes apparent after heavy and prolonged exertion. So if during training or competition (e.g. a marathon) you experience disturbing symptoms (especially in young people), you should see a doctor, as it is very likely that they are caused by hypertrophic cardiomyopathy. Failure to do so may even result in sudden cardiac death.

Hypertrophic cardiomiopathy(HCM) denotes a thickening of the heart muscle, most often the left ventricle, which leads to impaired diastolic function of the thickened ventricle, leading to symptoms of heart failure. However, the cause of this condition is not arterial hypertension, congenital heart defects, defects of the heart valves or pericardial diseases. In hypertrophic cardiomyopathy, there is a non-restricted outflow tract and a restricted outflow tract. In the latter case, the abnormal structure of the heart muscle causes that with each contraction of the heart, the pathway of the outflow of oxygen-rich blood to the aorta, and then to the entire body, narrows.

Hypertrophic cardiomyopathy can affect people of any age ( although it usually occurs in young people), both female and male.

Hypertrophic cardiomyopathy - causes

The most common cause of hypertrophic cardiomyopathy is an inherited genetic mutation.

Hypertrophic cardiomyopathy is the most common genetic heart disease

Hypertrophic cardiomyopathy can also be one of the symptoms of genetic diseases:

  • Congenital metabolic diseases, e.g. Pompe disease, Danon disease, Anderson and Fabry disease
  • birth defect syndromes, e.g. Noonan syndrome, Costello syndrome, LEOPARD syndrome
  • neuromuscular diseases - mainly Friedreich's ataxia

Hypertrophic cardiomyopathy can also be the result of TTR senile amyloidosis or a complication of acromegaly and phaeochromocytoma.

There are also known cases of hypertrophic cardiomyopathy in newborns of mothers with diabetes or as a side effect of using certain medications, e.g. steroids.

In some cases, the causes of hypertrophic cardiomyopathy are unknown.

Hypertrophic cardiomyopathy - symptoms

  • shortness of breath - first during exercise, then rest

Hypertrophic cardiomyopathy can be symptomatic at any time in life, but it is most common in young people.

  • stress angina pains - these are pains in the chest - behind the breastbone, which have the nature of burning, stretching, pressure. They can radiate to the mandible and upper limbs, especially to the left. They appear during exercise and disappear within 3-5 minutes after stopping it
  • widening of the jugular veins
  • swelling of the lower limbs
  • dizziness
  • fainting

Additionally, symptoms of diseases associated with hypertrophic cardiomyopathy may appear. For example, in Friedriech's ataxia, gait disturbances occur, and in amyloidosis and Anderson-Fabry's disease, paresthesias / disorders, sensations / neuropathic pain occur. In turn, lentil stains (the color of coffee with milk) are characteristic of the Noonan and LEOPARD syndromes.

Worth knowing

Hypertrophic cardiomyopathy - the most common cause of death among young athletes during competitions

Hypertrophic cardiomyopathy may be asymptomatic for a long time. It can be fully felt only during large and long-lasting effort, e.g. ultramarathon, triathlon, multi-day cycling races. So if, during training or competition, you develop disturbing symptoms (especially in young people) such as nausea, dizziness and chest pain (which occurred in most marathon runners who died before their death), see your doctor as it is very likely that their cause is hypertrophic cardiomyopathy. Failure to do so may even result in sudden cardiac death.

Hypertrophic cardiomyopathy - diagnosis

The basis for the diagnosis of hypertrophic cardiomyopathy is echocardiography (echo of the heart).

In turn, relatives of a patient with cardiomyopathy should be informed about the risk of developing the disease. The patient's family should undergo appropriate examinations.

Hypertrophic cardiomyopathy - treatment

Causal treatment of hypertrophic cardiomyopathy is not possible. Therapy is mainly about relieving symptoms, preventing complications, and reducing the risk of death. For this purpose, in symptomatic patients, drugs from the group of beta-blockers and calcium channel blockers are used (asymptomatic patients only require observation).

Some patients may require surgery to excise the overgrown muscle.

Cardiomyopathyhypertrophic - prognosis

Sometimes the sick person may reach old age (almost every fourth person lives to 75 years or more). However, many patients experience sudden heart death, stroke or heart failure at an early age. Rarely, the disease can affect even infants and young children and cause severe heart failure.

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