Hypertrophic cardiomyopathy in pompe disease is not limited to the classic infantile-onset phenotype

JIMD Reports

Volumn 17, Issue , 2014, Pages 71-75

  Lee, Dong Hwan ^a   Qiu, Wen Juan ^b   Lee, Jeongho ^a   Chien, Yin Hsiu ^c   Hwu, Wuh Liang ^c  

^a Soonchunhyang University College of Medicine   (South Korea)

^b SHANGHAI JIAO TONG UNIVERSITY SCHOOL OF MEDICINE   (China)

^c NATIONAL TAIWAN UNIVERSITY HOSPITAL   (Taiwan)

Author keywords

Creatinine kinase; Enzyme replacement therapy; Hypertrophic cardiomyopathy; Left ventricular mass index; Pompe disease

Indexed keywords

EID: 84930542666     PISSN: 21928304     EISSN: 21928312     Source Type: Book Series    
DOI: 10.1007/8904_2014_339     Document Type: Chapter

References (20)

1. Bembi B, Cerini E et al (2008) Diagnosis of glycogenosis type II. Neurology 71(23 Suppl 2):S4–11
2. Case LE, Koeberl DD et al (2008) Improvement with ongoing Enzyme Replacement Therapy in advanced late-onset Pompe disease: a case study. Mol Genet Metab 95(4):233–235
3. Chien YH, Chiang SC et al (2008) Early detection of Pompe disease by newborn screening is feasible: results from the Taiwan screening program. Pediatrics 122(1):e39–45
4. Chien YH, Lee NC et al (2009) Pompe disease in infants: improving the prognosis by newborn screening and early treatment. Pediatrics 124(6):e1116–1125
5. Gungor D, Reuser AJ (2013) How to describe the clinical spectrum in Pompe disease? Am J Med Genet Part A 161A(2):399–400
6. Hirschhorn R, Reuser A (2001) Glycogen storage disease type II: acid alpha-glucosidase (acid maltase) deficiency. In: Scriver C, Beaudet A, Sly W, Valle D (eds) The metabolic and molecular bases of inherited disease, vol 3. McGraw-Hill, New York pp 3389–3420
7. Jeon YH, Eun BL et al (2007) Clinical improvement in a case of atypical infantile onset Pompe disease with enzyme replacement therapy. Korean J Pediatr 50(2):213–217
8. Kim EH, Ko JM et al (2009) Two patients with atypical infantile Pompe disease presenting with hypertrophic cardiomyopathy. J Genet Med 6(2):161–165
9. Kishnani P, Hwu W et al (2006a) A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 148(5):671–676
10. Kishnani PS, Steiner RD et al (2006b) Pompe disease diagnosis and management guideline. Genet Med 8(5):267–288
11. Kishnani P, Corzo D et al (2007) Recombinant human acid {alpha}-glucosidase. Major clinical benefits in infantile-onset Pompe disease. Neurology 68(2):99–109
12. Kishnani PS, Beckemeyer AA et al (2012) The new era of Pompe disease: advances in the detection, understanding of the phenotypic spectrum, pathophysiology, and management. Am J Med Genet Part C Seminars Med Genet 160(1):1–7
13. Kroos MA, Pomponio RJ et al (2007) Broad spectrum of Pompe disease in patients with the same c.-32-13T->G haplotype. Neurology 68(2):110–115
14. Slonim AE, Bulone L et al (2000) Identification of two subtypes of infantile acid maltase deficiency. J Pediatr 137(2):283–285
15. Spiridigliozzi GA, Heller JH et al (2012) Cognitive and adaptive functioning of children with infantile Pompe disease treated with enzyme replacement therapy: long-term follow-up. Am J Med Genet Part C Seminars Med Genet 160(1):22–29
16. Strothotte S, Strigl-Pill N et al (2010) Enzyme replacement therapy with alglucosidase alfa in 44 patients with late-onset glycogen storage disease type 2: 12-month results of an observational clinical trial. J Neurol 257(1):91–97
17. van Capelle CI, Winkel LP et al (2008) Eight years experience with enzyme replacement therapy in two children and one adult with Pompe disease. Neuromuscul Disord 18(6):447–452
18. van der Ploeg AT, Clemens PR et al (2010) A randomized study of alglucosidase alfa in late-onset Pompe’s disease. N Engl J Med 362(15):1396–1406
19. Winkel LP, Van den Hout JM et al (2004) Enzyme replacement therapy in late-onset Pompe's disease: a three-year follow-up. Ann Neurol 55(4):495–502
20. Winkel LP, Hagemans ML et al (2005) The natural course of non-classic Pompe’s disease; a review of 225 published cases. J Neurol 252(8):875–884