Allied Professionals (Non-physician submissions only) -> Teaching Case Reports D-PO01 - Featured Poster Session (ID 11) Poster

D-PO01-058 - Filamin-C Mutation Manifesting As Isolated Ventricular Arrhythmia In A Young Patient Without Structural Heart Disease (ID 65)

 E.E. Flatley: Nothing relevant to disclose.


Background: Mutations on the filamin C gene have recently been associated with dilated cardiomyopathy and sudden cardiac death.
Objective: To demonstrate the importance of genetic testing in patients presenting with an “atypical” ventricular tachycardia (VT) and a structurally normal heart.
Results: A 36 year-old woman was referred for second opinion for treatment of VT. She presented initially with palpitations and presyncope during pregnancy. Telemetric monitoring revealed multiple episodes of rapid VT. A cardiac MRI showed normal biventricular function and no gadolinium delayed enhancement. She had no family history of sudden death. After delivery, she underwent electrophysiology study, and was found to have incessant VT mapped to the epicardial right ventricle. However, post ablation she had recurrent symptoms and a repeat monitor (Figure) showed frequent runs of sustained VT. Given the rapid epicardial VT in a young patient with a structurally normal heart, we referred her for genetic testing that revealed a pathogenic FLNC mutation. Repeat ablation was performed at our center epicardially on right ventricular aspect of the AIV, with no inducible VT after ablation. However, given the pathogenic FLNC mutation, an implanted cardioverter-defibrillator (ICD) was placed.
Conclusion: In young patients with an atypical non-outflow tract VT and structurally normal heart, genetic testing should be considered. In patients with FLNC mutations, ablation can play a role in reducing burden of VT and helping symptoms, but ICD should also be strongly considered to prevent sudden death