IDEAS home Printed from https://ideas.repec.org/a/plo/pone00/0209410.html
   My bibliography  Save this article

Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia

Author

Listed:
  • Roger E Peverill
  • Lesley Donelan
  • Louise A Corben
  • Martin B Delatycki

Abstract

Background: Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative condition which also has effects on the heart. In 96% of affected individuals FRDA is due to homozygosity of a GAA repeat expansion in intron 1 of the frataxin (FXN) gene. The number of GAA repeats have been shown to relate to disease severity in FRDA, this thought to be via an inverse relationship of GAA repeat number and cellular frataxin levels. We investigated the effects of FRDA on regional long axis function of the left and right ventricles, and also the relationship of long axis systolic (s`) and early diastolic (e`) peak velocities with GAA repeat number on the shorter (GAA1) and longer FXN alleles (GAA2). Methods: The study group of 78 adult subjects (age 32±9 years) with FRDA and normal left ventricular (LV) ejection fraction were compared to 54 healthy control subjects of similar age, sex and body size. Tissue Doppler imaging (TDI) signals were recorded at the mitral annulus for measurement of s`and e`of the septal, lateral, anterior and inferior walls and at the tricuspid annulus for measurement of right ventricular (RV) s`and e`. Results: All the regional LV s`and e`, and both RV s`and RV e`, were lower in individuals with FRDA compared to controls (p

Suggested Citation

  • Roger E Peverill & Lesley Donelan & Louise A Corben & Martin B Delatycki, 2018. "Differences in the determinants of right ventricular and regional left ventricular long-axis dysfunction in Friedreich ataxia," PLOS ONE, Public Library of Science, vol. 13(12), pages 1-14, December.
    • Handle: RePEc:plo:pone00:0209410
    DOI: 10.1371/journal.pone.0209410
    as

    Download full text from publisher

    File URL: https://journals.plos.org/plosone/article?id=10.1371/journal.pone.0209410
    Download Restriction: no
    File URL: https://journals.plos.org/plosone/article/file?id=10.1371/journal.pone.0209410&type=printable
    Download Restriction: no
    File URL: https://libkey.io/10.1371/journal.pone.0209410?utm_source=ideas
    LibKey link: if access is restricted and if your library uses this service, LibKey will redirect you to where you can use your library subscription to access this item
    ---><---

    Citations

    Citations are extracted by the CitEc Project, subscribe to its RSS feed for this item.
    as


    Cited by:

    1. Roger E Peverill & Giovanni Romanelli & Lesley Donelan & Rhonda Hassam & Louise A Corben & Martin B Delatycki, 2019. "Left ventricular structural and functional changes in Friedreich ataxia – Relationship with body size, sex, age and genetic severity," PLOS ONE, Public Library of Science, vol. 14(11), pages 1-18, November.

    More about this item

    Statistics

    Access and download statistics

    Corrections

    All material on this site has been provided by the respective publishers and authors. You can help correct errors and omissions. When requesting a correction, please mention this item's handle: RePEc:plo:pone00:0209410. See general information about how to correct material in RePEc.

    If you have authored this item and are not yet registered with RePEc, we encourage you to do it here. This allows to link your profile to this item. It also allows you to accept potential citations to this item that we are uncertain about.

    We have no bibliographic references for this item. You can help adding them by using this form .

    If you know of missing items citing this one, you can help us creating those links by adding the relevant references in the same way as above, for each refering item. If you are a registered author of this item, you may also want to check the "citations" tab in your RePEc Author Service profile, as there may be some citations waiting for confirmation.

    For technical questions regarding this item, or to correct its authors, title, abstract, bibliographic or download information, contact: plosone (email available below). General contact details of provider: https://journals.plos.org/plosone/ .

    Please note that corrections may take a couple of weeks to filter through the various RePEc services.

    IDEAS is a RePEc service. RePEc uses bibliographic data supplied by the respective publishers.