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Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia

Emanuele Monda1, Michele Lioncino1, Marta Rubino1

  • 1Department of Translational Medical Sciences, University of Campania "Luigi Vanvitelli", Via L. Bianchi, 80131 Naples, Italy.

Heart Failure Clinics
|November 15, 2021
PubMed

Insights

Friedreich ataxia (FRDA) involves heart complications like hypertrophic cardiomyopathy due to a gene expansion. Current FRDA management focuses on preventing cardiovascular issues, as direct treatments are unavailable.

Area of Science:

  • Neurology
  • Cardiology
  • Genetics

Background:

  • Friedreich ataxia (FRDA) is a genetic neurodegenerative disorder.
  • It is caused by a GAA triplet repeat expansion in the frataxin gene.
  • Cardiac involvement, primarily hypertrophic cardiomyopathy, is a common manifestation.

Purpose of the Study:

  • To review current knowledge on cardiovascular involvement in FRDA.
  • To detail clinical and instrumental features of cardiac manifestations.
  • To discuss current management strategies for cardiac involvement in FRDA.

Main Methods:

  • Literature review of studies on FRDA and cardiac involvement.
  • Analysis of clinical-instrumental features.
  • Summary of management approaches.

Main Results:

  • Cardiac involvement in FRDA ranges from asymptomatic to severe heart failure.
  • Hypertrophic cardiomyopathy is the typical cardiac presentation.
  • Management aims to prevent disease progression and complications.

Conclusions:

  • Cardiovascular involvement is a significant aspect of FRDA.
  • Effective management strategies are crucial for patient outcomes.
  • Further research is needed for direct-disease therapies for FRDA.

Keywords:
DiagnosisFriedreich ataxiaHypertrophic cardiomyopathyLeft ventricular hypertrophyTherapy

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