Hypertrophic cardiomyopathy (HCM) is a genetic heart condition characterised by abnormal thickening of the heart muscle, particularly the left ventricular (LV) wall. This thickening can obstruct blood flow, impair heart function, and increase the risk of arrhythmias or sudden cardiac events.

Echocardiography is the primary imaging modality used to diagnose HCM, providing crucial insights into the structural and functional abnormalities of the heart. Key echocardiographic findings in HCM include asymmetric septal hypertrophy, systolic anterior motion of the mitral valve, and diastolic dysfunction. Accurate measurement of LV wall thickness is essential for diagnosis, as an incorrect assessment can lead to misclassification of the disease.

HCM presents in various forms, including obstructive, non-obstructive, and apical variants, each with distinct echocardiographic features. The use of contrast echocardiography can enhance image quality, particularly in patients with poor acoustic windows, ensuring a more precise evaluation of wall thickness and cardiac function. However, there are potential pitfalls in diagnosing HCM, such as mistaking athlete’s heart, hypertensive heart disease, or infiltrative cardiomyopathies for HCM.

Proper interpretation of echocardiographic findings, awareness of diagnostic challenges, and the use of additional imaging modalities when needed are essential for accurate diagnosis and management of HCM.

Although there is no definitive way to prevent HCM, early detection plays a key role in managing the condition and reducing the risk of complications. Individuals with a family history of HCM should consider discussing genetic screening options with their healthcare provider. If genetic testing is not conducted or does not provide clear results, routine echocardiograms are recommended to monitor heart health and detect any signs of the condition early.
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