Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase

Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase

Cardiac failure is the main cause of death in untreated classic infantile Pompe disease, an inheritable metabolic myopathy characterized by progressive hypertrophic cardiomyopathy. Since the introduction of enzyme replacement therapy (ERT), survival has increased significantly due to reduced cardiac...

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Bibliographic Details
Published in:International journal of cardiology 2018-10, Vol.269, p.104-110
Main Authors: van Capelle, Carine I., Poelman, Esther, Frohn-Mulder, Ingrid M., Koopman, Laurens P., van den Hout, Johanna M.P., Régal, Luc, Cools, Bjorn, Helbing, Wim A., van der Ploeg, Ans T.
Format: Article
Language:eng
Subjects:
Acid alpha-glucosidase
alpha-Glucosidases - administration & dosage
Child
Child, Preschool
Classic-infantile Pompe disease
Cohort Studies
Electroencephalography - methods
Electroencephalography - trends
Enzyme replacement therapy (ERT)
Enzyme Replacement Therapy - methods
Enzyme Replacement Therapy - trends
Female
Glycogen Storage Disease Type II - diagnostic imaging
Glycogen Storage Disease Type II - drug therapy
Heart Diseases - diagnostic imaging
Heart Diseases - drug therapy
Humans
Hypertrophic cardiomyopathy
Infant
Infant, Newborn
Male
Prospective Studies
Recombinant Proteins - administration & dosage
Tachyarrhythmia
Time Factors
Treatment Outcome
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Summary:Cardiac failure is the main cause of death in untreated classic infantile Pompe disease, an inheritable metabolic myopathy characterized by progressive hypertrophic cardiomyopathy. Since the introduction of enzyme replacement therapy (ERT), survival has increased significantly due to reduced cardiac hypertrophy and improved cardiac function. However, little is known about ERT's long-term effects on the heart. Fourteen patients were included in this prospective study. Cardiac dimensions, function, conduction and rhythm disturbances were evaluated at baseline and at regular intervals thereafter. Treatment duration ranged from 1.1 to 13.9 years (median 4.8 years). At baseline, all patients had increased left ventricular mass index (LVMI) (median LVMI 226 g/m2, range 98 to 599 g/m2, Z-score median 7, range 2.4–12.4). During the first four weeks, LVMI continued to increase in six patients. Normalization of LVMI was observed in 13 patients (median 30 weeks; range 3 to 660 weeks). After clinical deterioration, LVMI increased again slightly in one patient. At baseline, PR interval was shortened in all patients; it normalized in only three. A delta-wave pattern on ECG was seen in six patients and resulted in documented periods of supraventricular tachycardias (SVTs) in three patients, two of whom required medication and/or ablation. One patient had severe bradycardia (35 beats/min). This study shows that ERT significantly reduced LVMI, and sustained this effect over a period of 13.9 years. The risk for rhythm disturbances remains. Regular cardiac evaluations should be continued, also after initially good response to ERT. •ERT significantly reduced cardiac hypertrophy in classic infantile Pompe patients.•This significant improvement of LVMI is sustained over 14 years.•After start of treatment LVMI may initially increase, before starting to decline.•The risk for rhythm disturbances remains and warrants follow-up.
ISSN:0167-5273
1874-1754