RT Journal Article
SR Electronic
T1 Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease
JF Ochsner Journal
JO Ochsner J
FD O. P. Jindal Global University
SP 413
OP 416
DO 10.31486/toj.18.0049
VO 18
IS 4
A1 Niyazov, Dmitriy
A1 Lara, Diego A.
YR 2018
UL http://www.ochsnerjournal.org/content/18/4/413.abstract
AB Background: Pompe disease is a lysosomal storage disorder that results from an inborn error of metabolism involving abnormal glycogen storage. Infantile-onset Pompe disease is the most severe phenotype, and enzyme replacement therapy with alglucosidase alfa (Lumizyme) improves medical and functional outcomes in patients with infantile-onset Pompe disease.Case Report: We report the case of a patient with infantile-onset Pompe disease who presented with severe hypertrophic cardiomyopathy, systolic and diastolic cardiac dysfunction, and hypotonia. She experienced significant improvement in cardiac systolic function while receiving enzyme replacement therapy.Conclusion: Typically, patients with infantile-onset Pompe disease and severe hypertrophic cardiomyopathy are not as responsive to enzyme replacement therapy as patients with mild or no hypertrophic cardiomyopathy. We demonstrated the efficacy of enzyme replacement therapy in a patient with severe hypertrophic cardiomyopathy.