Progress in Pediatric Cardiology
Volume 24, Issue 1 , Pages 15-25 , November 2007

Diagnostic approaches to pediatric cardiomyopathy of metabolic genetic etiologies and their relation to therapy

  • Gerald F. Cox

      Affiliations

    • Corresponding Author InformationGenzyme Corporation, 500 Kendall St., Cambridge, MA 02142, United States. Tel.: +1 617 768 6894; fax: +1 617 252 7694.

References 

  1. Schwartz ML, Cox GF, Lin AE, et al. Clinical approach to genetic cardiomyopathy in children. Circulation. 1996;94:2021–2038
  2. Lipshultz SE, Sleeper LA, Towbin JA, et al. The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med. 2003;348:1647–1655
  3. Nugent AW, Daubeney PE, Chondros P, et al. The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med. 2003;348:1639–1646
  4. Grenier MA, Osganian SK, Cox GF, et al. Design and implementation of the North American Pediatric Cardiomyopathy Registry. Am Heart J. 2000;139:S86–S95
  5. Cox GF, Sleeper LA, Lowe AM, et al. Factors associated with establishing a causal diagnosis for children with cardiomyopathy. Pediatrics. 2006;118:1519–1531
  6. Colan SD, Lipshultz SE, Lowe AM, et al. Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children. Findings from the Pediatric Cardiomyopathy Registry. Circulation. 2007;
  7. Towbin JA, Lowe AM, Colan SD, et al. Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA. 2006;296:1867–1876
  8. Seashore MR. Tandem spectrometry in newborn screening. Curr Opin Pediatr. 1998;10:609–614
  9. Naylor EW, Chace DH. Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. J Child Neurol. 1999;14(Suppl 1):S4–S8
  10. Gelb MH, Turecek F, Scott CR, Chamoles NA. Direct multiplex assay of enzymes in dried blood spots by tandem mass spectrometry for the newborn screening of lysosomal storage disorders. J Inherit Metab Dis. 2006;29:397–404
  11. Jack RM, Gordon C, Scott CR, Kishnani PS, Bali D. The use of acarbose inhibition in the measurement of acid alpha-glucosidase activity in blood lymphocytes for the diagnosis of Pompe disease. Genet Med. 2006;8:307–312
  12. Kishnani PS, Corzo D, Nicolino M, et al. Recombinant human acid [alpha]-glucosidase: major clinical benefits in infantile-onset Pompe disease. Neurology. 2007;68:99–109
  13. Wraith JE, Beck M, Lane R, et al. Enzyme replacement therapy in patients who have Mucopolysaccharidosis I and are younger than 5 years: results of a multinational study of recombinant human α-l-iduronidase (Laronidase). Pediatrics. 2007;120:e36–e47

PII: S1058-9813(07)00087-2

doi: 10.1016/j.ppedcard.2007.08.013

Progress in Pediatric Cardiology
Volume 24, Issue 1 , Pages 15-25 , November 2007

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