Advertisement

Pediatric and Developmental Pathology

, Volume 2, Issue 1, pp 78–85 | Cite as

Maternally Inherited Mitochondrial Cardiomyopathy Associated with a C-to-T Transition at Nucleotide 3303 of Mitochondrial DNA in the tRNALeu(UUR) Gene

  • Jeffrey D.  Goldstein
  • Sara  Shanske
  • Claudio  Bruno
  • Anthony A.  Perszyk

ABSTRACT

Disorders associated with mitochondrial DNA (mtDNA) mutations are usually dominated by involvement of the nervous system and skeletal muscle (hence the term “mitochondrial encephalomyopathies”). However, considering the high dependence of the heart on oxidative metabolism, it is not surprising that myocardial dysfunction is often a prominent feature in these disorders, either as isolated cardiomyopathy or as part of a multisystem mitochondrial syndrome. We report an infant with a maternally inherited C-to-T transition at nucleotide 3303 of mtDNA in the tRNALeu(UUR) gene; this is the second kindred with cardiomyopathy identified to have this mutation of mitochondrial DNA. A brief review of other mitochondrial DNA defects is also included.

Key words: hypertrophic cardiomyopathy, heart mitochondria, mitochondrial DNA, mitochondrial myopathies 

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

Copyright information

© Springer-Verlag New York Inc. 1999

Authors and Affiliations

  • Jeffrey D.  Goldstein
    • 1
  • Sara  Shanske
    • 2
  • Claudio  Bruno
    • 2
  • Anthony A.  Perszyk
    • 3
  1. 1.Department of Pathology, Wolfson Children's Hospital, Baptist Medical Center, 800 Prudential Drive, Jacksonville, FL 32207, USA US
  2. 2.H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disorders, Department of Neurology, Columbia-Presbyterian Medical Center, 630 West 168th Street, New York, NY 10032, USA US
  3. 3.Division of Genetics, Nemours Children's Clinic, 807 Nira Street, Jacksonville, FL 32207, USA US

Personalised recommendations