PT  - JOURNAL ARTICLE
AU  - Dmitriy Niyazov
AU  - Diego A. Lara
TI  - Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease
AID  - 10.31486/toj.18.0049
DP  - 2018 Dec 21
TA  - Ochsner Journal
PG  - 413--416
VI  - 18
IP  - 4
4099  - http://www.ochsnerjournal.org/content/18/4/413.short
4100  - http://www.ochsnerjournal.org/content/18/4/413.full
SO  - Ochsner J2018 Dec 21; 18
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.