How is it Diagnosed?
Cardiomyopathy refers to diseases of the heart muscle that affect its structure and
function. It includes types like dilated, hypertrophic, restrictive, and arrhythmogenic
cardiomyopathy. Diagnosis involves a combination of clinical evaluation, imaging, and
functional studies.
A detailed medical history is taken to identify symptoms such as fatigue, shortness of
breath, palpitations, chest pain, or syncope. Family history is crucial, especially for
genetic forms. Physical examination may reveal signs of heart failure, such as jugular
venous distension, edema, or abnormal heart sounds.
Electrocardiogram (ECG) is the initial diagnostic tool, used to detect arrhythmias,
conduction abnormalities, or left ventricular hypertrophy. Echocardiography is the
cornerstone for diagnosis, offering information on chamber size, wall thickness, and
systolic/diastolic function.
Advanced imaging with cardiac MRI provides detailed myocardial characterization,
useful in identifying fibrosis or infiltrative diseases. Chest X-ray may show cardiac
enlargement or pulmonary congestion.
Blood tests including cardiac biomarkers (BNP or NT-proBNP), thyroid function tests,
iron studies, and viral serologies are helpful in determining etiology. Genetic testing may
be considered, especially in familial cases.
In some patients, endomyocardial biopsy is performed to confirm specific types like
myocarditis or infiltrative cardiomyopathy. Holter monitoring and exercise stress testing
can further assess arrhythmias or ischemic contribution.
Multidisciplinary evaluation helps guide treatment and prognosis based on the type and
severity of cardiomyopathy.