Thanks to visit codestin.com
Credit goes to link.springer.com

Skip to main content
Springer Nature Link
Log in

Severe Reversible Cardiomyopathy in Four Unrelated Infants Associated with Mitochondrial DNA D-Loop Heteroplasmy

  • Original Article
  • Published:
Pediatric Cardiology Aims and scope Submit manuscript

Abstract

Inherited disorders of energy metabolism are increasingly being recognized as important causes of cardiomyopathy in children. We previously reported that heteroplasmic point substitutions in the mitochondrial DNA D-loop were found in 15 of 75 children at risk for mitochondrial disease (vs 0/95 controls). Four of these cases presented with severe cardiomyopathy in congestive failure in addition to other anomalies and are presented here. In each case, myocardial dysfunction greatly improved following supportive therapy aimed at reversing both congestive failure and catabolism. D-loop point heteroplasmy may be a marker for severe, reversible, infantile multisystem disease that can present with cardiomyopathy.

This is a preview of subscription content, log in via an institution to check access.

Access this article

Log in via an institution

Subscribe and save

Springer+
from £29.99 /Month
  • Starting from 10 chapters or articles per month
  • Access and download chapters and articles from more than 300k books and 2,500 journals
  • Cancel anytime
View plans

Buy Now

Price includes VAT (United Kingdom)

Instant access to the full article PDF.

Institutional subscriptions

Similar content being viewed by others

Explore related subjects

Discover the latest articles, books and news in related subjects, suggested using machine learning.

References

  1. E Arbustini M Diegoli R Fasani et al. (1998) ArticleTitleMitochondrial DNA mutations and mitochondrial abnormalities in dilated cardiomyopathy. Am J Pathol 153 1501–1510 Occurrence Handle1:CAS:528:DyaK1cXns1Ogsrw%3D Occurrence Handle9811342

    CAS  PubMed  Google Scholar 

  2. D Bonnet P de Lonlay I Gautier et al. (1988) ArticleTitleEfficiency of metabolic screening in childhood cardiomyopathies. Eur Heart J 19 790–793 Occurrence Handle10.1053/euhj.1997.0818

    Article  Google Scholar 

  3. S DiMauro M Hirano (1998) ArticleTitleMitochondria and heart disease. Curr Opin Cordial 13 190–197 Occurrence Handle1:STN:280:DyaK1czhtlKhug%3D%3D

    CAS  Google Scholar 

  4. RA Friedman JP Moak A Garson (1991) ArticleTitleClinical course of idiopathic dilated cardiomyopathy in children. J Am Coll Cardiol 18 152–156 Occurrence Handle1:STN:280:By6B28fjvFY%3D Occurrence Handle2050918

    CAS  PubMed  Google Scholar 

  5. M Ito ST Le D Chaudhari et al. (2001) ArticleTitleScreening for mitochondrial DNA heteroplasmy in children at risk for mitochondrial disease. Mitochondrion 1 269–278 Occurrence Handle10.1016/S1567-7249(01)00028-9 Occurrence Handle1:CAS:528:DC%2BD3MXotFKitLg%3D

    Article  CAS  Google Scholar 

  6. AB Lewis M Chabot (1991) ArticleTitleOutcome of infants and children with dilated cardiomyopathy. Am J Cardiol 68 365–369 Occurrence Handle1858677

    PubMed  Google Scholar 

  7. MITOMAP (2001) A human mitochondrial genome database. Center for Molecular Medicine, Emory University, Atlanta, GA, USA. http://www.gen.emory.edu/mitomap.html

  8. JM Saudubray D Martin P de Lonlay et al. (1999) ArticleTitleRecognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis 22 488–502

    Google Scholar 

  9. ML Schwartz GF Cox AE Lin et al. (1996) ArticleTitleClinical approach to genetic cardiomyopathy in children. Circulation 94 2021–2038 Occurrence Handle1:STN:280:ByiD38jlsVY%3D Occurrence Handle8873681

    CAS  PubMed  Google Scholar 

  10. JM Shoffner (2001) Oxidative phosphorylation diseases. CR Scriver (Eds) et al. The Metabolic and Molecular Bases of Inherited Disease, 8th edn. McGraw-Hill New York 2367–2423

    Google Scholar 

Download references

Acknowledgements

This work was supported in part by a grant from the United Mitochondrial Disease Foundation and a Research Career Development Award from the Childrens Hospital Los Angeles Research Institute. We thank the clinicians who referred patients and provided samples for DNA analysis.

Author information

Authors and Affiliations

  1. Division of Medical Genetics, Childrens Hospital Los Angeles, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA

    R. G. Boles & M. Ito

  2. Department of Pediatrics, Keck School of Medicine at the University of Southern California, Los Angeles, CA 90027, USA

    R. G. Boles & C. Luna

  3. Division of Cardiology, Childrens Hospital Los Angeles, 4650 Sunset Boulevard, Los Angeles, CA 90027, USA

    C. Luna

Authors
  1. R. G. Boles
    View author publications

    Search author on:PubMed Google Scholar

  2. C. Luna
    View author publications

    Search author on:PubMed Google Scholar

  3. M. Ito
    View author publications

    Search author on:PubMed Google Scholar

Corresponding author

Correspondence to R. G. Boles.

Rights and permissions

Reprints and permissions

About this article

Cite this article

Boles, R., Luna, C. & Ito, M. Severe Reversible Cardiomyopathy in Four Unrelated Infants Associated with Mitochondrial DNA D-Loop Heteroplasmy . Pediatr Cardiol 24, 484–487 (2003). https://doi.org/10.1007/s00246-002-0263-8

Download citation

  • Published:

  • Issue date:

  • DOI: https://doi.org/10.1007/s00246-002-0263-8

Keywords