A SHOCKING RESCUE: NOVEL USE OF ENZYME REPLACEMENT THERAPY FOR VENTRICULAR TACHYCARDIA IN LATE-ONSET POMPE DISEASE
Recommended Citation
Sabra M, La Starza B, Vishwanath R, Ebinger MW, Ilg KJ, Michaels AT, Maskoun W, Gorgis S. A SHOCKING RESCUE: NOVEL USE OF ENZYME REPLACEMENT THERAPY FOR VENTRICULAR TACHYCARDIA IN LATE-ONSET POMPE DISEASE. J Am Coll Cardiol 2025; 85(12):2886.
Document Type
Conference Proceeding
Publication Date
4-1-2025
Publication Title
J Am Coll Cardiol
Keywords
alglucosidase alfa, avalglucosidase alfa, glycogen, lidocaine, adult, autosomal dominant Parkinson disease, cannulation, cardiomyopathy, cardioversion, case report, clinical article, complication, conference abstract, defibrillation, diagnosis, drug therapy, dual chamber implantable cardioverter defibrillator, echocardiograph, echocardiography, electrocardiogram, electrocardiography, enzyme replacement, extracorporeal oxygenation, female, glycogen storage disease type 2, heart arrhythmia, heart ventricle tachycardia, hemodynamics, human, long QT syndrome, out of hospital cardiac arrest, pacemaker implantation, paroxysmal supraventricular tachycardia, polymorphic ventricular tachycardia, QT prolongation, return of spontaneous circulation, sedation, sinus bradycardia, stellate ganglion block, surgery, therapy, veno-arterial ECMO
Abstract
Background: Pompe disease is an autosomal recessive disorder caused by a deficiency of the enzyme acid alpha-glucosidase (GAA). Late-onset Pompe disease (LOPD),the adult form, causes glycogen buildup in skeletal, cardiac, and smooth muscles, leading to cardiac issues such as hypertrophy and rhythm disturbances. Case A 33-year-old woman with untreated childhood-onset Pompe disease presented after out-of-hospital cardiac arrest. After return of spontaneous circulation, the electrocardiogram(ECG) showed sinus bradycardia and significant QT interval prolongation (QTc=599 ms), with echocardiogram revealing an LVEF of 35%. The patient subsequently experienced a polymorphic ventricular tachycardia(PMVT) storm, requiring multiple defibrillations. She was started on a lidocaine infusion and underwent temporary pacemaker implantation for overdrive pacing. Despite this, she continued to have multiple episodes of sustained PMVT requiring cardioversion/defibrillation. The patient was cannulated for Venoarterial Extracorporeal Membrane Oxygenation(VA-ECMO) for hemodynamic support.Despite VA-ECMO support, she continued to have PMVT during weaning attempts. Enzyme replacement therapy (ERT) with avalglucosidase alfa was initiated seven days after presentation. Following two ERT infusions, she was successfully weaned off VA-ECMO and decannulated. However, she continued to have non-sustained VT with weaning sedation.The patient subsequently underwent a stellate ganglion block, followed by the placement of a dual-chamber implantable cardioverter defibrillator. She was discharged to a rehabilitation facility with plans of biweekly enzyme infusions. Three months later, the patient continues to receive infusions with no ICD shocks noted. Decision-making Pompe disease causes progressive cardiomyopathy and conduction abnormalities,often showing prolonged QTc on ECG,which raises the risk of PMVT with ectopy.While ERT is typically used in infantile Pompe to reduce hypertrophy and arrhythmias,our case presents a novel use in late-onset Pompe disease. Conclusion Our case presents a unique application of ERT in late-onset Pompe disease for VT suppression.
Volume
85
Issue
12
First Page
2886
