HRS Board Review 2025 New Courses (Reviewers Copy)-Workshop 1_Electrocardio_London_2025

Workshop 1_Electrocardio_London_2025_case 5

Video Transcription

Video Summary

The likely pathogenic mutation identified in the patient and her father is a four base pair deletion and frameshift in placofilin-2 (option C). This conclusion is based on the clinical presentation of cardiac issues in both the patient and her father, including the history of cardiac arrest, palpitations, and genetic testing results. Placofilin-2 is commonly associated with arrhythmogenic right ventricular cardiomyopathy (ARVC), which matches the symptoms and test results described, such as right ventricular enlargement and frequent PVCs observed in the patient.

Keywords

pathogenic mutation

placofilin-2

cardiac issues

arrhythmogenic right ventricular cardiomyopathy

genetic testing