From the Guidelines
Cardiomyopathy is diagnosed through a combination of medical history, physical examination, and diagnostic tests, with the most recent and highest quality study suggesting that cardiac MRI is an important tool to consider in every patient with cardiomyopathy 1. The diagnostic process typically begins with a thorough review of symptoms and family history, followed by a physical examination where the doctor listens for abnormal heart sounds and checks for signs of heart failure. Some key points to consider in the diagnosis of cardiomyopathy include:
- The use of electrocardiogram (ECG) to detect abnormal heart rhythms and structural changes
- Echocardiogram to visualize heart structure and function
- Cardiac MRI for detailed imaging of heart tissue
- Blood tests to check for markers of heart damage
- In some cases, a cardiac catheterization may be performed to measure pressures within the heart chambers and check coronary arteries
- Genetic testing is increasingly important, especially for familial forms of cardiomyopathy
- A myocardial biopsy, though less common, may be necessary to examine heart tissue directly The primary diagnostic tools and techniques are selected based on the specific clinical question and the patient's presentation, with the goal of identifying the underlying cause of cardiomyopathy and guiding management decisions 1. Early diagnosis is crucial as it allows for timely intervention to manage symptoms, slow disease progression, and prevent complications such as heart failure, arrhythmias, or sudden cardiac death. In patients with suspected cardiomyopathy, it is essential to exclude coronary artery disease, which can be done using cardiac computed tomography (CT) or coronary angiography 1. The use of endomyocardial biopsy may be considered in specific cases where the cause of cardiomyopathy is suspected to be related to a particular condition, such as hemochromatosis or sarcoidosis, but it is not indicated in the routine evaluation of cardiomyopathy 1. Overall, the diagnosis of cardiomyopathy requires a comprehensive approach that incorporates medical history, physical examination, and diagnostic tests to guide management decisions and improve patient outcomes.
From the Research
Diagnosis of Cardiomyopathy
The diagnosis of cardiomyopathy involves a combination of clinical evaluation, electrocardiography, and imaging tests. The following are some of the key diagnostic methods:
- Electrocardiography (ECG) to assess the heart's electrical activity 2, 3
- Echocardiography to evaluate the heart's structure and function 2, 3
- Cardiac magnetic resonance imaging (CMR) to assess the heart's morphology and function 4, 5
- Genetic testing to identify genetic mutations associated with cardiomyopathy 2, 4, 6
- Measurement of B-type natriuretic peptide levels to assess heart failure 3
- High-sensitivity cardiac troponin T assay to diagnose inflammatory cardiomyopathy 5
Diagnostic Approach
The diagnostic approach to cardiomyopathy involves a phenotype-oriented approach, multimodal imaging, and genetic testing to establish an accurate diagnosis 6. The European Society of Cardiology (ESC) Guidelines for the management of cardiomyopathies recommend a comprehensive clinical and genetic cascade screening in relatives of individuals with cardiomyopathies 6. The diagnosis of cardiomyopathy also involves the recognition of diagnostic "red flags" that can guide the selection of specialized tests, including genetic analysis 4.
Imaging Tests
Imaging tests, such as CMR, can be useful in diagnosing cardiomyopathy and predicting clinical outcomes 5. CMR can assess the extent of late gadolinium enhancement, which is a significant predictor of cardiac death, urgent heart transplantation, and hospitalization for worsening heart failure 5. However, the diagnostic accuracy of CMR and high-sensitivity cardiac troponin T assay may be limited in certain cases 5.