Poster Presentation Society of Obstetric Medicine of Australia and New Zealand ASM 2018

Friedreich's Ataxia in Pregnancy: A Case Report (#66)

Christine Mendes 1 , Jillian Streitberg 2 , David Watson 3
  1. Obstetrics & Gynaecology, Logan Hospital, Meadowbrook, QLD, Australia
  2. Anaesthesia, The Townsville Hospital, Townsville, Queensland - QLD, Australia
  3. Obstetrics & Gynaecology, The Townsville Hospital, Townsville, Queensland - QLD, Australia


Friedreich’s Ataxia (FA) has an autosomal recessive inheritance and is the most common hereditary ataxia. FA clinically presents with neurological abnormalities, hypertrophic cardiomyopathy, and diabetes mellitus with age of onset in adolescent years.(1) Pregnancy management in patients with Friedreich’s Ataxia presents a unique challenge due to the potential for worsening symptoms, especially deterioration of cardiomyopathy. This is a case report that details the management of a pregnant patient with severe Friedreich’s Ataxia.


A 29 year old primigravida was severely affected with Friedreich’s Ataxia. She experienced progressive neurological deterioration with ataxia and weakness of limbs, and was wheelchair dependent. There was significant pre-pregnancy cardiomyopathy with an ejection fraction (EF) of 30-35%, with heart failure managed with ACE inhibitors and ARBs.

Termination of pregnancy was discussed due to the severity of her cardiomyopathy but the patient elected to continue the pregnancy. Cardiac failure medications were changed to bisoprolol, hydralazine and isosorbide. First trimester screening was low risk for aneuploidy and no anomalies were detected at 20 week morphology screening.

Admission was required at 22 weeks due to worsening heart failure, with echocardiogram demonstrating an EF of ~15% and grade 3/4 diastolic dysfunction. Delivery was discussed but as this would result in fetal demise, the patient wanted to continue the pregnancy. Management was with frusemide, fluid restriction of 1L, and weekly echocardiogram. Obstetric ultrasounds were reassuring. Echocardiograms demonstrated stable EF <20%. The patient remained an inpatient from 22 weeks until delivery.

A live baby boy weighing 2030g was delivered at 32 weeks under epidural anesthetic. Post-operative recovery in ICU was uneventful. Cardiac function remained stable with EF <20%.


Friedreich’s ataxia in pregnancy is rare. Retrospective case series report that women with FA are capable of successful pregnancies, however none of the study participants had pre-existing heart failure.(2)


Managing a pregnant patient with severe Friedreich’s Ataxia is a complex situation requiring multidisciplinary management from cardiac, maternal fetal medicine, obstetric medicine, anaesthetics, and ICU specialists.

  1. Delatycki MB, Corben LA. Clinical features of Friedreich ataxia. Journal of child neurology. 2012;27(9):1133-7.
  2. Friedman LS, Paulsen EK, Schadt KA, Brigatti KW, Driscoll DA, Farmer JM, et al. Pregnancy with Friedreich ataxia: a retrospective review of medical risks and psychosocial implications. Am J Obstet Gynecol. 2010;203(3):224.e1-5