Investigation establishes the diagnosis, distinguishes the hypertrophy pattern from other causes and can support screening of relatives.
Imaging and electrical findings
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Echocardiography: This is the investigation of choice and is usually diagnostic.
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Diagnostic difficulty: Hypertension or athletic training may provide another explanation for left ventricular hypertrophy, making diagnosis more difficult.
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Hypertrophy pattern: In hypertrophic cardiomyopathy, hypertrophy is usually disproportionate and asymmetrical.
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Electrocardiogram: The ECG is abnormal, with left ventricular hypertrophy and varied, often bizarre abnormalities, including deep T-wave inversion.
Genetic testing
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Family screening: Genetic testing is helpful in screening relatives when a pathogenic mutation has been identified in an affected individual.