Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia

Heart Fail Clin. 2022 Jan;18(1):31-37. doi: 10.1016/j.hfc.2021.07.001. Epub 2021 Oct 25.


Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a homozygous GAA triplet repeat expansion in the frataxin gene. Cardiac involvement, usually manifesting as hypertrophic cardiomyopathy, can range from asymptomatic cases to severe cardiomyopathy with progressive deterioration of the left ventricular ejection fraction and chronic heart failure. The management of cardiac involvement is directed to prevent disease progression and cardiovascular complications. However, direct-disease therapies are not currently available for FRDA. The present review aims to describe the current state of knowledge regarding cardiovascular involvement of FRDA, focusing on clinical-instrumental features and management of cardiac manifestation.

Keywords: Diagnosis; Friedreich ataxia; Hypertrophic cardiomyopathy; Left ventricular hypertrophy; Therapy.

Publication types

  • Review

MeSH terms

  • Cardiomyopathies*
  • Friedreich Ataxia* / complications
  • Friedreich Ataxia* / diagnosis
  • Friedreich Ataxia* / genetics
  • Humans
  • Stroke Volume
  • Trinucleotide Repeat Expansion
  • Ventricular Function, Left