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[Enzyme replacement therapy in a boy with infantile Pompe disease: cardiac follow-up].
Arch Pediatr 2008; 15(12):1760-4AP

Abstract

Pompe disease is an autosomal recessive glycogen storage disorder caused by acid-alpha-glucosidase deficiency. The infantile form is usually fatal by 1 year of age in the absence of specific therapy. We report the cardiac follow-up of a 4-month-old boy treated with enzyme replacement therapy (ERT) for 8 months. The patient had no cardiac failure at the age of 1 year. Before starting ERT, ECG showed a shortened PR interval, with huge QRS complexes and biventricular hypertrophy; echocardiography demonstrated major hypertrophic cardiomyopathy. The QRS voltage (SV1+RV6) decreased from 13 to 2.9 mV after 32 weeks of ERT, suggesting a progressive reduction of cardiac hypertrophy and intracellular glycogen excess. The PR interval increased from 60 to 90 ms. A block of the right bundle branch appeared after 13 weeks of treatment. The indexed left ventricular mass decreased from 240 to 90 g/m2 after 30 weeks of ERT. The left ventricular ejection fraction decreased transitorily between the 5th and the 15 th weeks of treatment. In summary, ERT is an efficient therapeutic approach for the cardiomyopathy of infantile Pompe disease. However, the possible occurrence of a right bundle branch block and a transitory alteration in the ejection fraction highlight the importance of cardiac follow-up.

Authors+Show Affiliations

Pôle de médecine pédiatrique, université François-Rabelais, CHRU de Tours, Tours, France.No affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Comparative Study
Journal Article

Language

fre

PubMed ID

18995995

Citation

Bonnefoy, R, et al. "[Enzyme Replacement Therapy in a Boy With Infantile Pompe Disease: Cardiac Follow-up]." Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, vol. 15, no. 12, 2008, pp. 1760-4.
Bonnefoy R, Labarthe F, Paoli F, et al. [Enzyme replacement therapy in a boy with infantile Pompe disease: cardiac follow-up]. Arch Pediatr. 2008;15(12):1760-4.
Bonnefoy, R., Labarthe, F., Paoli, F., Chantreuil, J., Barthez, M. A., Froissart, R., ... Chantepie, A. (2008). [Enzyme replacement therapy in a boy with infantile Pompe disease: cardiac follow-up]. Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 15(12), pp. 1760-4. doi:10.1016/j.arcped.2008.09.014.
Bonnefoy R, et al. [Enzyme Replacement Therapy in a Boy With Infantile Pompe Disease: Cardiac Follow-up]. Arch Pediatr. 2008;15(12):1760-4. PubMed PMID: 18995995.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - [Enzyme replacement therapy in a boy with infantile Pompe disease: cardiac follow-up]. AU - Bonnefoy,R, AU - Labarthe,F, AU - Paoli,F, AU - Chantreuil,J, AU - Barthez,M-A, AU - Froissart,R, AU - Poinsot,J, AU - Chantepie,A, Y1 - 2008/11/07/ PY - 2008/03/06/received PY - 2008/06/04/revised PY - 2008/09/08/accepted PY - 2008/11/11/pubmed PY - 2009/3/7/medline PY - 2008/11/11/entrez SP - 1760 EP - 4 JF - Archives de pediatrie : organe officiel de la Societe francaise de pediatrie JO - Arch Pediatr VL - 15 IS - 12 N2 - Pompe disease is an autosomal recessive glycogen storage disorder caused by acid-alpha-glucosidase deficiency. The infantile form is usually fatal by 1 year of age in the absence of specific therapy. We report the cardiac follow-up of a 4-month-old boy treated with enzyme replacement therapy (ERT) for 8 months. The patient had no cardiac failure at the age of 1 year. Before starting ERT, ECG showed a shortened PR interval, with huge QRS complexes and biventricular hypertrophy; echocardiography demonstrated major hypertrophic cardiomyopathy. The QRS voltage (SV1+RV6) decreased from 13 to 2.9 mV after 32 weeks of ERT, suggesting a progressive reduction of cardiac hypertrophy and intracellular glycogen excess. The PR interval increased from 60 to 90 ms. A block of the right bundle branch appeared after 13 weeks of treatment. The indexed left ventricular mass decreased from 240 to 90 g/m2 after 30 weeks of ERT. The left ventricular ejection fraction decreased transitorily between the 5th and the 15 th weeks of treatment. In summary, ERT is an efficient therapeutic approach for the cardiomyopathy of infantile Pompe disease. However, the possible occurrence of a right bundle branch block and a transitory alteration in the ejection fraction highlight the importance of cardiac follow-up. SN - 0929-693X UR - https://www.unboundmedicine.com/medline/citation/18995995/[Enzyme_replacement_therapy_in_a_boy_with_infantile_Pompe_disease:_cardiac_follow_up]_ L2 - https://linkinghub.elsevier.com/retrieve/pii/S0929-693X(08)00427-2 DB - PRIME DP - Unbound Medicine ER -