Реферат
Background Phospholamban (PLN), an inhibitor of sarcoplasmic reticulum (SR) Ca2+-ATPase, is a regulator of Ca2+ release during excitation-contraction coupling. We present a case of recurrent polymorphic ventricular tachycardia (PMVT)/ventricular fibrillation (VF) due to a PLN mutation. Case 38 year-old male presents after resuscitation following VF arrest. An ICD was implanted. Seven years later, he presented with VF storm requiring ventricular assist device support and he underwent catheter ablation of PVC triggers of VF arising from the moderator band. Because he had an ECG that was concerning for early repolarization syndrome, he was placed on quinidine and metoprolol. After an episode of VT in 2020 in the setting of COVID infection, whole genome sequencing was obtained and identified a pathogenic PLN mutation. PLN L39Ter has been associated with dilated and hypertrophic cardiomyopathy as well as sudden death. The patient has a history of normal left ventricular function and wall thickness by echocardiography. Decision-making Given the involvement of PLN on SR handling of Ca2+, flecainide may be a more effective therapy for the treatment of PMVT/VF in this patient. Conclusion PLN mutations have been associated with cardiomyopathies. This case illustrates a patient with the pathogenic PLN L39X variant with short-coupled PMVT with no imaging evidence of structural heart disease. Whether a more targeted therapy such as flecainide may be more effective in this patient remains to be determined. [Formula presented]Copyright © 2023 American College of Cardiology Foundation