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Heart pathologies

The heart is the most important organ in the human body, being its center and responsible for the most important functions of the body. However, even the heart is prone to many different diseases, collectively known as heart pathologies. Cardiomyopathies are a group of diseases of the heart muscle that are caused by a variety of factors but consistently lead to abnormalities in the structure and function of the heart. They may be accompanied by changes or dysfunctions in the pericardium, endocardium or other organs. As a result of cardiomyopathy, the body deprives the body of properly oxygenated blood, which can lead to death in the worst case. According to the WHO classification from 1995, five basic groups of cardiomyopathy are distinguished, each of which may take two forms of the disease - genetically determined (familial) or non-genetically determined (idiopathic - of unknown origin or acquired). In turn, the American Heart Association in 2006 created a more detailed classification, covering ten individual groups of cardiomyopathy.

 

 

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Symptoms

In many cases, cardiac pathologies do not guarantee visible symptoms at the beginning of development, and some types of cardiomyopathy may progress asymptomatically for a long time. However, as the disease progresses, there will be indications of heart failure. The patient will experience general body weakness and fatigue. Dizziness, shortness of breath and frequent fainting over time may occur. Swelling of the feet, exhausting cough and high blood pressure are also common symptoms. The patient also develops chest pain, arrhythmias and atrial fibrillation over time. However, the symptoms, depending on the type of pathology present, may be different and may not appear jointly at a similar time.

The causes of the disease

Heart pathologies can occur in people of all ages, but those in their forties are most at risk. The highest risk group includes people with family history of heart pathologies and genetic mutations, immune disorders, systemic diseases, heart ischemia, as well as alcoholism and blood pressure related diseases. The disease often affects people taking specific medications, which may result in heartbeat disorders, complications or even a heart attack. The risk factors also include diabetes, obesity, anyloidosis and sarcoidosis.

 

Diagnosis

Heart pathologies are usually difficult to diagnose, especially in these rare varieties. Numerous appropriate examinations are required in order to make a diagnosis. Diagnosis of cardiomyopathies is primarily based on an electrocardiogram
and cardiac echocardiography. An ECG test detects wave changes
T in leads above the right ventricle and widening of the QRS complex. A 24-hour ECG (Holter) recording is performed for reliable results read more, as well as an exercise test or perfusion scintigraphy of the heart muscle read more. Echocardiography, on the other hand, allows for the identification of the enlargement of the right ventricle, abnormal contractility of this ventricle and the condition of the heart muscle fibers. Additionally, MRI is performed for a more detailed picture of the fibers and the right ventricle as well
in some cases, a myocardial biopsy to confirm loss of normal heart muscle cells and an increase in fibrous and fatty tissue. However, a biopsy is performed extremely rarely due to the low sensitivity of the examination.

Classification of cardiomyopathy

 

  • Dilated (congestive) cardiomyopathy

With congestive cardiomyopathy, one or both ventricles are dilated or dilated. Most often it is the left ventricle. This is accompanied by deterioration of contractile function and fibrosis of the striated muscle tissue that builds the heart. Additionally, there is interstitial and perivascular fibrosis and thinning of the walls of the heart cavities (especially the ventricles). The disease in most cases occurs when the heart muscle is weak enough that it cannot pump blood properly. The disease is extensive and is largely hereditary (about 25% of patients). It can also be caused by ischemic heart disease, and in the case of the form acquired by nutritional deficiencies, hormonal disorders or the use of drugs that damage the heart muscle (e.g. chemotherapy).

  • Hypertrophic cardiomyopathy

This type of cardiomyopathy in more than half of the cases is due to genetics or mutations in the genes encoding the heavy chain of β-myosin (MYH7) and the type C myosin binding protein (MYBPC3). Hypertrophic cardiomyopathy most often develops as a result of diseases that cause hypertrophy of the heart muscle (e.g., amyloidosis, amyloidosis), long-term hypertension, diabetes, thyroid gland, or simply the aging process. This most common type of cardiomyopathy is characterized by asymmetric left ventricular hypertrophy due to the thickening of the left ventricular wall and a narrowing of the outflow tract. As a result, cardiac striated muscle fibers condense, preventing proper blood flow.

  • Restrictive cardiomyopathy

The type of cardiomyopathy that is the least frequent of all five primary groups. The condition can develop as a result of a scar tissue from a heart transplant, or as a result of an illness such as mumps. Restrictive cardiomyopathy is characterized by stiffening of the chambers of the heart, causing the fibers to lose elasticity and unable to stretch properly to fill the heart cavities with blood.

  • Arrhythmogenic right ventricular cardiomyopathy

Extremely rare group of ailments with genetic determinants. The disease most often runs in families and is inherited in an autosomal dominant manner. It consists in the progressive loss of heart muscle cells, which are replaced by connective tissue
and fat. Cardiomyocyte atrophy begins in the subendocardium of the right ventricle and then progresses towards the endocardium. It can lead to the involvement of the left ventricle (in about 50% of cases) and to the involvement of the interventricular septum (in about 20% of cases). The most common mutations responsible for the occurrence of ARVC relate to genes encoding proteins of intercellular junction (desmosomes). The disease in many cases leads to the occurrence of cardiac arrhythmias. Arrhythmogenic cardiomyopathy is known as a disease of young athletes because it causes sudden cardiac death in many of them and its symptoms can be triggered by exercise. Then they appear, among others shortness of breath, loss of consciousness, attacks of palpitations. However, ARVC can develop asymptomatically for a long time.

Cardiomyopathies unclassified:

  • Postpartum (perinatal) cardiomyopathy
    It most often occurs at the end of pregnancy or shortly after the end of pregnancy. Postpartum cardiomyopathy is a rare type that occurs in the last month of pregnancy or within five months of pregnancy as a result of a weakened heart muscle. It is a type of dilated cardiomyopathy caused by factors of vascular and endocrine origin. The disease takes the form of left ventricular failure, which is a threat to the patient's life. Women suffering from the disease are advised against breastfeeding due to the presence of prolactin - they are given drugs that inhibit its secretion and limit lactation. This is to compensate for the damage to the heart muscle.
  • Alcoholic cardiomyopathy
    It develops as a result of consuming a lot of alcohol over a long period of time - most often it is the consequence of an alcoholism disorder. As a result, the heart is weakened enough that it cannot pump blood properly. The heart muscle is enlarged. For this reason, alcoholic cadiomyopathy is a form of dilated cardiomyopathy.

  • Metabolic cardiomyopathy
    It arises as a result of hormonal disorders, such as the thyroid gland, diabetes, acromegaly or adrenal insufficiency, as well as as a result of storage diseases. These types of ailments cause the retention of amyloid within the heart muscle - a type of pathological protein with a different structure.

  • Stress-induced cardiomyopathy (takotsubo)
    Most often it occurs as a result of tragic experiences, such as the death of a partner or with increased mental stress (e.g. divorce). Its common name - broken heart syndrome - owes its occurrence often in people who have experienced heartbreak or unhappy love. It appears suddenly and disappears just as quickly, but it causes disturbances in the functioning of the left ventricle.

 

Treatment

Heart pathologies are a group of diseases that are not fully curable. Treatment is primarily aimed at reducing the symptoms and securing the patient's life.
First of all, the patient is recommended to make changes in lifestyle and to be active, although it should be remembered that people with heart disease must not overstrain themselves physically. Medicines used to treat cardiomyopathy include diuretics, β-blockers and supplements with a high potassium content. In many cases, the patient has a pacemaker implanted to improve its functioning,and in extreme cases performs heart transplant surgery. Treatment depends on the level of myocardial damage and the symptoms associated with the disease.

Sources:

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  • Brieler J. MD., Bredden M.A., Tucker J.  Cardiomyopathy: an overview. 96 (10). Am Fam Physician, 2017, s. 640-646.
  • Cunningham F., Byrne J., Nelson D. Peripartum cardiomyopathy. 133 (1). Obstet Gynecol, 2019, s. 167–179.
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  • Gładysz J. Arytmogenna kardiomiopatia prawej komory - postępowanie diagnostyczne krok po kroku. (2). Państwowa Medyczna Wyższa Szkoła Zawodowa w Opolu Puls Uczelni, 2015, s. 12-17.
  • Kwiatkowska J., Potaż P., Wałdoch A. Rodzinna kardiomiopatia rozstrzeniowa (DCM): problemy diagnostyczne, terapeutyczne i społeczne. 10 (33). suppl. 32. Standardy Med. 2008, s. 122-128.
  • Lindley K.J., Verma A.K., Blauwet L.A. Peripartum cardiomyopathy: progress in understanding the etiology, management, and prognosis. 15 (1). Heart Fail Clin, 2019, s. 29-39.
  • Maron B.J., i in. ACC/ESC clinical expert consensus document on hypertrophic cardiomyopathy: a report of the American College of Cardiology Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines Journal of the American College of Cardiology. 42, 2003, s. 1687-1713.
  • Maron BJ, i in. Contemporary definitions and classification of the cardiomyopathies: an American Heart Association Scientific Statement from the Council on Clinical Cardiology, Heart Failure and Transplantation Committee; Quality of Care and Outcomes Research and Functional Genomics and Translational Biology Interdisciplinary Working Groups; and Council on Epidemiology and Prevention. „Circulation”. 113. 14, 2006, s. 1807-1816.
  • Szczeklik A. (red.). Choroby wewnętrzne. Przyczyny, rozpoznanie i leczenie, tom I. Kraków: Wydawnictwo Medycyna Praktyczna, 2005, s. 288-296.
  • Thiene G., Corrado D., Basso C. Arrhythmogenic right ventricular cardiomyopathy/dysplasia. „Orphanet J Rare Dis”. 2, 2008, s. 45.

 

 

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