What are the key clinical features to consider when diagnosing arrhythmogenic cardiomyopathy in a young athlete?

Key clinical features to consider when diagnosing arrhythmogenic cardiomyopathy (AC) in a young athlete include:

• Symptoms: Palpitations, syncope, or unexplained exertional dizziness are common presenting symptoms in young athletes with AC, often related to ventricular arrhythmias NICE CKS Corrado et al. 2017.
• Family history: A positive family history of sudden cardiac death or AC is a critical clue, given the genetic basis of the disease NICE CKS Corrado et al. 2001.
• Electrocardiogram (ECG) abnormalities: Typical ECG findings include T-wave inversions in right precordial leads (V1–V3), epsilon waves, and ventricular arrhythmias with left bundle branch block morphology, reflecting right ventricular involvement NICE CKS Corrado et al. 2017.
• Imaging findings: Cardiac MRI or echocardiography may reveal right ventricular dilation, regional wall motion abnormalities, and fibrofatty replacement of myocardium, which are hallmark features of AC NICE CKS Migliore et al. 2010.
• Exercise-related arrhythmias: Exercise can exacerbate arrhythmias and disease progression, so documentation of exercise-induced ventricular tachycardia or frequent ventricular ectopy supports the diagnosis NICE CKS Corrado et al. 2001.
• Histological confirmation: Though not routinely performed, endomyocardial biopsy showing fibrofatty infiltration of the right ventricular myocardium can confirm diagnosis in uncertain cases Corrado et al. 2001.

In summary, the diagnosis of arrhythmogenic cardiomyopathy in a young athlete relies on a combination of clinical presentation (arrhythmia-related symptoms), family history, characteristic ECG changes, imaging evidence of right ventricular structural abnormalities, and exercise-induced arrhythmias NICE CKS Corrado et al. 2017Migliore et al. 2010. Early recognition is crucial due to the risk of sudden cardiac death in this population.