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Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase.
Int J Cardiol 2018; 269:104-110IJ

Abstract

BACKGROUND

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.

METHODS

Fourteen patients were included in this prospective study. Cardiac dimensions, function, conduction and rhythm disturbances were evaluated at baseline and at regular intervals thereafter.

RESULTS

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).

CONCLUSION

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.

Authors+Show Affiliations

Pompe Center and Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.Pompe Center and Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.Department of Pediatrics, Division of Pediatric Cardiology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.Department of Pediatrics, Division of Pediatric Cardiology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.Pompe Center and Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.Center of Human Genetics, Laboratory of Biochemical Neuroendocrinology, KU Leuven, Belgium.Pediatric Cardiology, University Hospitals Leuven, Belgium.Department of Pediatrics, Division of Pediatric Cardiology, Erasmus MC University Medical Center, Rotterdam, The Netherlands.Pompe Center and Center for Lysosomal and Metabolic Diseases, Department of Pediatrics, Erasmus MC University Medical Center, Rotterdam, The Netherlands. Electronic address: a.vanderploeg@erasmusmc.nl.

Pub Type(s)

Journal Article

Language

eng

PubMed ID

30049495

Citation

van Capelle, Carine I., et al. "Cardiac Outcome in Classic Infantile Pompe Disease After 13 Years of Treatment With Recombinant Human Acid Alpha-glucosidase." International Journal of Cardiology, vol. 269, 2018, pp. 104-110.
van Capelle CI, Poelman E, Frohn-Mulder IM, et al. Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase. Int J Cardiol. 2018;269:104-110.
van Capelle, C. I., Poelman, E., Frohn-Mulder, I. M., Koopman, L. P., van den Hout, J. M. P., Régal, L., ... van der Ploeg, A. T. (2018). Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase. International Journal of Cardiology, 269, pp. 104-110. doi:10.1016/j.ijcard.2018.07.091.
van Capelle CI, et al. Cardiac Outcome in Classic Infantile Pompe Disease After 13 Years of Treatment With Recombinant Human Acid Alpha-glucosidase. Int J Cardiol. 2018 Oct 15;269:104-110. PubMed PMID: 30049495.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Cardiac outcome in classic infantile Pompe disease after 13 years of treatment with recombinant human acid alpha-glucosidase. AU - van Capelle,Carine I, AU - Poelman,Esther, AU - Frohn-Mulder,Ingrid M, AU - Koopman,Laurens P, AU - van den Hout,Johanna M P, AU - Régal,Luc, AU - Cools,Bjorn, AU - Helbing,Wim A, AU - van der Ploeg,Ans T, Y1 - 2018/07/19/ PY - 2018/01/10/received PY - 2018/07/04/revised PY - 2018/07/18/accepted PY - 2018/7/28/pubmed PY - 2019/3/12/medline PY - 2018/7/28/entrez KW - Acid alpha-glucosidase KW - Classic-infantile Pompe disease KW - Enzyme replacement therapy (ERT) KW - Hypertrophic cardiomyopathy KW - Tachyarrhythmia SP - 104 EP - 110 JF - International journal of cardiology JO - Int. J. Cardiol. VL - 269 N2 - BACKGROUND: 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. METHODS: Fourteen patients were included in this prospective study. Cardiac dimensions, function, conduction and rhythm disturbances were evaluated at baseline and at regular intervals thereafter. RESULTS: 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). CONCLUSION: 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. SN - 1874-1754 UR - https://www.unboundmedicine.com/medline/citation/30049495/Cardiac_outcome_in_classic_infantile_Pompe_disease_after_13_years_of_treatment_with_recombinant_human_acid_alpha_glucosidase_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0167-5273(18)30154-2 DB - PRIME DP - Unbound Medicine ER -