(FIT)-Module 1, Workshop 1: Electrocardiographic/Electrophysiologic Correlation-London Case 5 Question

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The patient's symptoms and family history suggest a hereditary cardiac condition. Given the genetic testing referral and the symptoms, the mutation is likely related to arrhythmogenic right ventricular cardiomyopathy (ARVC). The pathogenic mutation most likely identified is option C, a four base pair deletion and frameshift in plakophilin-2, which is known to be associated with ARVC, characterized by ventricular arrhythmias, right ventricular enlargement, and exercise intolerance. The presence of these symptoms and family history points to plakophilin-2 as the likely genetic mutation found in both the patient and her father.

Keywords

hereditary cardiac condition

arrhythmogenic right ventricular cardiomyopathy

plakophilin-2 mutation

genetic testing

ventricular arrhythmias