Pediatric Cardiology

, Volume 26, Issue 5, pp 727–730

High-Dose Beta-Blocker Hypertrophic Cardiomyopathy Therapy in a Patient with Friedreich Ataxia

Case Report


Heart involvement in patients with Friedreich ataxia (FRDA) is a condition marked by inevitable progressive deterioration, with premature death. There is currently no specific treatment for FRDA. Recently, a therapy with idebenone, a short-chain coenzyme Q10 analogue, was reported to reduce left ventricular mass by 20% in about half of FRDA patients, but a double-blind placebo-controlled study did not fully confirm these results. In this case report, we present a 5-year follow-up of symmetrical concentric hypertrophic cardiomyopathy (HCM) in an FRDA patient treated with high-dose propranolol. The therapy resulted in a reduction in the thickness of the septal and posterior left ventricular walls and complete normalization of diffuse electrocardiographic repolarization abnormalities. To the best of our knowledge, this is the first such case to be reported in the literature, demonstrating the positive effects of high-dose beta-blocker treatment on heart involvement in patients with FRDA.


Friedreich ataxia Hypertrophic cardiomyopathy High-dose beta-blocker therapy 


  1. 1.
    Alboliras, ET, Shub, C, Gomez, MR,  et al. 1986Spectrum of cardiac involvement in Friedreich’s ataxia: clinical, electrocardiographic and echocardiographic observationsAm J Cardiol58518524PubMedCrossRefGoogle Scholar
  2. 2.
    Alfonso, F, Nihoyannopoulos, P, Stewart, J,  et al. 1990Clinical significance of giant negative T waves in hypertrophic cardiomyopathyJ Am Coll Cardiol15965971PubMedCrossRefGoogle Scholar
  3. 3.
    Blair, E, Redwood, C, Ashrafain, H,  et al. 2001Mutations in the γ2 subunit of AMP-activated protein kinase cause familial hypertrophic cardiomyopathy: evidence for the central role of energy compromise in disease pathogenesisHum Mol Genet1012151220PubMedCrossRefGoogle Scholar
  4. 4.
    Colan, SD, Spevak, PJ, Parness, IA, Nadas, AS 1992


    Fyler, DC eds. Nadas’ pediatric cardiologyHanley & BelfusPhiladelphia348
    Google Scholar
  5. 5.
    Ettedgui, JA, Tersak, JM 2002

    Cardiological aspects of systemic disease

    Anderson, RHBaker, EJMacartney, RFJ eds. Paediatric cardiology2Churchill LivingstonLondon17931794
    Google Scholar
  6. 6.
    Hausse, AO, Aggoun, Y, Bonnet, D,  et al. 2002Idebenone and reduced cardiac hypertrophy in Friedreich’s ataxia,Heart87346349PubMedCrossRefGoogle Scholar
  7. 7.
    Lodi, R, Rajagopalan, B, Blamire, AM,  et al. 2001Cardiac energetics are abnormal in Friedreich ataxia patients in the absence of cardiac dysfunction and hypertrophy: an in vivo 31P magnetic resonance spectroscopic studyCardiovasc Res52111119PubMedCrossRefGoogle Scholar
  8. 8.
    Marian, AJ, Roberts, R 1995Molecular genetics of hypertrophic cardiomyopathyAnnu Rev Med46213222PubMedGoogle Scholar
  9. 9.
    Marrioti, C, Solari, A, Torta, D 2003Idebenone treatment in Friedreich patients: one-year-long randomized placebo-controlled trialNeurology6016761679Google Scholar
  10. 10.
    Ostman-Smith, I, Wettrell, G, Riesenfeld, T 1999A cohort study of childhood hypertrophic cardiomyopathy: improved survival following high-dose beta-adrenoreceptor antagonist treatmentJ Am Coll Cardiol348131822Google Scholar
  11. 11.
    Ristow, M, Pfister, MF, Yee, AJ,  et al. 2000Frataxin activates mitochondrial energy conversion and oxidative phosphorylationProc Natl Acad Sci USA971223912243PubMedCrossRefGoogle Scholar
  12. 12.
    Rustin, P, Kleist-Retzov, JC, Chantrel-Groussard, K,  et al. 1999Effect of idebenone on cardiomyopathy in Friedreich’s ataxia: a preliminary studyLancet354477479PubMedCrossRefGoogle Scholar

Copyright information

© Springer Science+Business Media, Inc. 2005

Authors and Affiliations

  1. 1.Department of Pediatric CardiologyMother and Child Health InstituteBelgrade
  2. 2.Department of Pediatric NeurologyMother and Child Health InstituteBelgrade

Personalised recommendations