title: Cardiac response to enzyme replacement therapy in infantile Pompe disease with severe hypertrophic cardiomyopathy.
abstract: Classic infantile-onset Pompe disease (IOPD), characterized by predominantly cardiac involvement, used to be considered uniformly lethal within months. The availability of enzyme replacement therapy (ERT) has transformed the course of the disease. Decrease in ventricular hypertrophy and improvement in ventricular function have been suggested as proof for efficacy. We report the cardiac response to ERT of a child with IOPD and severe hypertrophic cardiomyopathy. The myocardial hypertrophy resolved. Change in ejection fraction, however, was slow. We discuss the potential benefit of other parameters beyond ejection to assess cardiac function in IOPD, including speckle tracking-based strain.
authors.affiliation: Department of Pediatrics (Cardiology), Louisiana State University Health Sciences Center, New Orleans, LA, USA.
authors.forename: Sravani
authors.initials: S
authors.lastname: Avula
authors.affiliation: School of Medicine, Louisiana State University Health Sciences Center, New Orleans, LA, USA.
authors.forename: Thuylinh M
authors.initials: TM
authors.lastname: Nguyen
authors.affiliation: Department of Pediatrics (Genetics), Louisiana State University Health Sciences Center, New Orleans, LA, USA.
authors.forename: Michael
authors.initials: M
authors.lastname: Marble
authors.affiliation: Department of Pediatrics (Cardiology), Louisiana State University Health Sciences Center, New Orleans, LA, USA.
authors.forename: Christian
authors.identifier: http://orcid.org/0000-0003-3799-4689
authors.initials: C
authors.lastname: Lilje
mesh_terms: D020909:Acarbose / Q000627:therapeutic use; D002312:Cardiomyopathy, Hypertrophic / Q000150:complications* / Q000000981:diagnostic imaging / Q000188:drug therapy*; D004452:Echocardiography; D015150:Echocardiography, Doppler; D056947:Enzyme Replacement Therapy / Q000379:methods*; D005260:Female; D005959:Glucosidases / Q000627:therapeutic use; D006009:Glycogen Storage Disease Type II / Q000150:complications* / Q000000981:diagnostic imaging / Q000188:drug therapy*; D065089:Glycoside Hydrolase Inhibitors / Q000627:therapeutic use; D006801:Humans; D007223:Infant; D016896:Treatment Outcome
chemical_list: D065089:Glycoside Hydrolase Inhibitors; D005959:Glucosidases; D020909:Acarbose
keywords: congenital heart disease; echocardiography; hypertrophic cardiomyopathy; myocardial strain