RIDING THE VT STORM : COMPLEX CARE FOR A POMPE DISEASE PATIENT WITH VA-ECMO AND ENZYME REPLACEMENT THERAPY

Document Type

Conference Proceeding

Publication Date

4-1-2025

Publication Title

J Am Coll Cardiol

Keywords

alglucosidase alfa, amiodarone, antiarrhythmic agent, avalglucosidase alfa, glycogen, lidocaine, mexiletine, nadolol, adult, cannulation, cardioversion, case report, clinical article, conference abstract, decannulation, diagnosis, drug therapy, echocardiograph, echocardiography, electrocardiography, enzyme replacement, female, frailty, genetic screening, glycogen storage disease type 2, heart arrhythmia, heart catheterization, heart function, heart left ventricle ejection fraction, heart tissue, heart transplantation, heart ventricle tachycardia, hemodynamics, Holter monitoring, human, hypertrophic cardiomyopathy, implantable cardioverter defibrillator, long QT syndrome, muscle weakness, nerve block, onset age, paroxysmal supraventricular tachycardia, QT prolongation, secondary prevention, special situation for pharmacovigilance, stellate ganglion, sudden death, therapy, veno-arterial ECMO

Abstract

Background: Pompe disease, also known as glycogen storage disease type II, leads to glycogen buildup in various tissues, including the heart. This can cause hypertrophic cardiomyopathy and conduction abnormalities, increasing the risk of arrhythmias such as ventricular tachycardia (VT). Case We present a case of a 33-year-old female patient with prior genetic testing revealing one pathogenic variant and one Variant of Uncertain Significance (VUS) in the GAA gene, associated with autosomal recessive Pompe disease. She was admitted with VT storm. EKG revealed polymorphic VT with prolonged QT interval, and echocardiogram showed a mildly reduced left ventricular ejection fraction (LVEF) but was otherwise normal. Initial antiarrhythmic therapy with lidocaine and nadolol, along with temporary pacing and multiple cardioversions, failed to resolve VT, necessitating veno-arterial extracorporeal membrane oxygenation (VA ECMO) cannulation. Right and left heart catheterizations demonstrated normal hemodynamics and no evidence of CAD. Neurology recommended enzyme replacement therapy (ERT) for treatment. She was started on Nexviazyme (avalglucosidase alfa) and received a total of three doses. Her condition eventually improved, allowing for VA ECMO decannulation. She underwent stellate ganglion nerve block and received an implantable cardioverter-defibrillator (ICD) for secondary prevention. She was discharged on mexiletine and amiodarone. Due to her muscle weakness and frailty, cardiac transplantation was not considered a viable long-term option. Decision-making Glycogen accumulation in cardiac tissue can lead to multiple conduction abnormalities, which predispose patients to VT and sudden death. Alglucosidase alfa has been shown to improve cardiac function, although it does not eliminate the risk of arrhythmias. Conclusion In Pompe disease, cardiac findings can differ in terms of severity, structures involved, age of onset, and rate at which the condition progresses. In our case, VT was the first manifestation of the disease and occurred during adulthood. Regular cardiac evaluations, including 24-hour Holter monitoring, are recommended to detect and manage arrhythmias.

Volume

85

Issue

12

First Page

3015

Find It @ Sladen

Share

COinS