Case ReportCASE REPORTS AND CLINICAL OBSERVATIONS

Improvement in Cardiac Function With Enzyme Replacement Therapy in a Patient With Infantile-Onset Pompe Disease

Dmitriy Niyazov and Diego A. Lara
Ochsner Journal December 2018, 18 (4) 413-416; DOI: https://doi.org/10.31486/toj.18.0049

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  • Figure.
    Figure. Patient’s ejection fraction over time, measured using Simpson’s biplane method. At age 2 months, the patient presented with new systolic dysfunction and worsened biventricular hypertrophy; at 3 months she was diagnosed with Pompe disease; and at 3 months, 3 weeks she was admitted to the hospital for bronchiolitis and worsening heart function. She received her first alglucosidase alfa (Lumizyme) infusion at 4 months and was discharged home from the hospital at 8 months. At 9 months, she rolled over for the first time and was weaned off milrinone at 10 months. At 11 months, she sat supported. At 13 months, the patient had a normal ejection fraction but died from a viral illness.
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