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HRS Board Review 2025 New Courses (Reviewers Copy)
Workshop 1_Electrocardio_London_2025_case 5 answer
Workshop 1_Electrocardio_London_2025_case 5 answer
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Video Transcription
Video Summary
A young woman likely has arrhythmogenic cardiomyopathy (formerly arrhythmogenic right ventricular cardiomyopathy) due to a PKP2 gene frameshift mutation. This condition affects the heart's ventricles, often starting in the right ventricle. Diagnosis involves history, echocardiogram showing dilation, and ECG abnormalities. Exercise restriction is critical, as vigorous activities exacerbate the condition. Most cases are linked to mutations in desmosomal genes like PKP2. Diagnosis is determined by clinical criteria involving ventricular dilation, ECG abnormalities, arrhythmias, and genetic confirmation. Regular but moderate exercise is advised, avoiding high-intensity activities.
Keywords
arrhythmogenic cardiomyopathy
PKP2 gene mutation
ventricular dilation
exercise restriction
desmosomal genes
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