Kardioomatsüüdid

Kardioomatsüüdid (cardiomyopathies) are a group of diseases affecting the myocardium, the heart muscle, resulting in impaired systolic and/or diastolic function. They are defined by structural and functional abnormalities of the heart muscle in the absence of conditions that would explain the observed dysfunction such as coronary artery disease, systemic hypertension, or significant valvular disease. The term encompasses several primary forms, most notably dilated, hypertrophic, restrictive, and arrhythmogenic cardiomyopathy.

Causes are diverse and can be genetic or acquired. Genetic mutations in genes encoding sarcomere, cytoskeletal, or desmosomal proteins underlie many forms, often inherited in autosomal dominant patterns with variable expressivity. Acquired forms may follow viral myocarditis, toxins (alcohol, certain drugs), nutritional deficiencies, metabolic disorders, or infiltrative diseases like amyloidosis.

Symptoms vary but commonly include exertional dyspnea, fatigue, peripheral edema, chest discomfort, palpitations, or syncope, depending on the dominant dysfunction. Diagnosis relies on imaging and tests: echocardiography typically shows ventricular dilation or wall thickening; cardiac magnetic resonance provides tissue characterization; ECG detects arrhythmias; natriuretic peptides indicate heart failure; genetic testing confirms familial forms.

Treatment is individualized and aims to reduce symptoms, prevent disease progression, and lower adverse outcomes. It may include guideline-directed medical therapy (ACE inhibitors or ARBs, beta-blockers, mineralocorticoid receptor antagonists), diuretics for congestion, and antiarrhythmic strategies. Device therapy such as implantable cardioverter-defibrillators or cardiac resynchronization therapy is considered for selected patients. In advanced cases, heart transplantation may be indicated.

Epidemiology and prognosis vary by form and genotype; cardiomyopathies collectively are relatively uncommon but are a leading cause of heart failure and sudden cardiac death in younger patients. The term has been in use since the early 20th century as understanding of myocardial disease evolved. Ongoing research focuses on molecular mechanisms, risk stratification, and gene-directed therapies.