Management of Friedreich Ataxia –Associated Cardiomyopathy in Pregnancy: A Review of the Literature

One of the clinical manifestations of Friedreich ataxia (FRDA), a rare, autosomal recessive condition caused by deficiency of the frataxin protein, is cardiomyopathy. A total of 60% of deaths from this condition are attributable to cardiac causes, and the life expectancy for patients with cardiac involvement is 29 to 38  years.1,2 Other clinical features of FRDA include ataxia, gait disturbances, hyporeflexia, spasticity, scoliosis, and diabetes mellitus.3–5 FRDA is caused by guanine-adenine-adenine trinucleotide repeat expansions in the frataxin gene on intron 1 of chromosome 9, leading to a deficiency of this protein.

Source: The American Journal of Cardiology - November 7, 2023 Category: Cardiology Authors: Ashleigh N. Peterson, Leigh C. Hickerson, E. Rebecca Pschirrer, Lynsy B. Friend, Cynthia C. Taub Source Type: research