Metabolic basis of pediatric heart disease

Vernat J. Exil, Marshall Summar, Mary Alyson Boles, James Atkinson, James A. Johns, Dietrich Matern, Arnold W. Strauss, Charles E. Canter

Research output: Contribution to journalArticle

5 Citations (Scopus)

Abstract

We review cardiomyopathies and their classification due to inborn errors of metabolism. An overview of their clinical presentations, diagnosis, treatment, and long-term outcome is provided. Due to the expansion of newborn screening programs and the widespread availability of genetic testing, many patients are now diagnosed earlier in life allowing for timely initiation of symptomatic or even curative treatment and providing opportunities for long-term survival. Hence, it is important that clinicians are familiar with the evaluation, diagnostic approach, and management of these hitherto often lethal pediatric cases. In addition, clinicians need a basic understanding of genetic concepts to provide for appropriate first tier counseling of patients and their families.

Original languageEnglish (US)
Pages (from-to)143-159
Number of pages17
JournalProgress in Pediatric Cardiology
Volume20
Issue number2
DOIs
StatePublished - Jul 2005

Fingerprint

Heart Diseases
Genetic Phenomena
Pediatrics
Inborn Errors Metabolism
Genetic Testing
Cardiomyopathies
Counseling
Newborn Infant
Survival
Therapeutics

Keywords

  • Cardiomyopathy
  • Inborn errors of metabolism: newborn screening
  • Sudden infant death syndrome (SIDS)

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

Exil, V. J., Summar, M., Boles, M. A., Atkinson, J., Johns, J. A., Matern, D., ... Canter, C. E. (2005). Metabolic basis of pediatric heart disease. Progress in Pediatric Cardiology, 20(2), 143-159. https://doi.org/10.1016/j.ppedcard.2005.04.005

Metabolic basis of pediatric heart disease. / Exil, Vernat J.; Summar, Marshall; Boles, Mary Alyson; Atkinson, James; Johns, James A.; Matern, Dietrich; Strauss, Arnold W.; Canter, Charles E.

In: Progress in Pediatric Cardiology, Vol. 20, No. 2, 07.2005, p. 143-159.

Research output: Contribution to journalArticle

Exil, VJ, Summar, M, Boles, MA, Atkinson, J, Johns, JA, Matern, D, Strauss, AW & Canter, CE 2005, 'Metabolic basis of pediatric heart disease', Progress in Pediatric Cardiology, vol. 20, no. 2, pp. 143-159. https://doi.org/10.1016/j.ppedcard.2005.04.005
Exil VJ, Summar M, Boles MA, Atkinson J, Johns JA, Matern D et al. Metabolic basis of pediatric heart disease. Progress in Pediatric Cardiology. 2005 Jul;20(2):143-159. https://doi.org/10.1016/j.ppedcard.2005.04.005
Exil, Vernat J. ; Summar, Marshall ; Boles, Mary Alyson ; Atkinson, James ; Johns, James A. ; Matern, Dietrich ; Strauss, Arnold W. ; Canter, Charles E. / Metabolic basis of pediatric heart disease. In: Progress in Pediatric Cardiology. 2005 ; Vol. 20, No. 2. pp. 143-159.
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