Case five, your patient is a 21-year-old student referred by a genetic counselor for evaluation after genetic testing. Her father had a cardiac arrest at age 32, and he has status post-defibrillator placement. Your patient has always tired easily with exercise, gets dissonant walking up one flight of steps, and has palpitations, but has no history of syncope. A transthoracic echo showed normal LV function with mild right ventricular enlargement. A Holter monitor showed frequent PVCs and couplets, and a stress test showed tachycardia at a low workload and a low overall exercise tolerance. This is your patient's baseline electrocardiogram. Which pathogenic mutation did genetic testing most likely identify in your patient and her father? A, a synonymous single nucleotide polymorphism in desmoglian-2. B, a non-synonymous single nucleotide polymorphism in HERG. C, a four base pair deletion and frameshift in placofilin-2. D, a non-sense mutation in TITAN. And E, a single nucleotide polymorphism that alters the splice acceptor site of exon-2 of the ryanodine receptor.

pathogenic mutation

placofilin-2

cardiac issues

arrhythmogenic right ventricular cardiomyopathy

genetic testing