Clinical Management Guidelines for Friedreich Ataxia (FRDA)

Topic 13.3. Cardiac considerations for women planning for pregnancy

Return to Chapter Overview Page
 

Full Chapter PDF

Full TextRecommendationsBest Practice StatementsLay SummaryAuthorsReferencesMethodology & Date

This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.

Disclaimer / Intended Use / Funding

Disclaimer
The Clinical Management Guidelines for Friedreich ataxia (‘Guidelines’) are protected by copyright owned by the authors who contributed to their development or said authors’ assignees.

These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.

Guidelines users must seek out the most recent information that might supersede the diagnostic and treatment recommendations contained within these Guidelines and consider local variations in clinical settings, funding and resources that may impact on the implementation of the recommendations set out in these Guidelines.

The authors of these Guidelines disclaim all liability for the accuracy or completeness of the Guidelines, and disclaim all warranties, express or implied to their incorrect use.

Intended Use
These Guidelines are made available as general information only and do not constitute medical advice. These Guidelines are intended to assist qualified healthcare professionals make informed treatment decisions about the care of individuals with Friedreich ataxia. They are not intended as a sole source of guidance in managing issues related to Friedreich ataxia. Rather, they are designed to assist clinicians by providing an evidence-based framework for decision-making.

These Guidelines are not intended to replace clinical judgment and other approaches to diagnosing and managing problems associated with Friedreich ataxia which may be appropriate in specific circumstances. Ultimately, healthcare professionals must make their own treatment decisions on a case-by-case basis, after consultation with their patients, using their clinical judgment, knowledge and expertise.
Guidelines users must not edit or modify the Guidelines in any way – including removing any branding, acknowledgement, authorship or copyright notice.

Funding
The authors of this document gratefully acknowledge the support of the Friedreich Ataxia Research Alliance (FARA). The views and opinions expressed in the Guidelines are solely those of the authors and do not necessarily reflect the official policy or position of FARA.


13.3 Cardiac considerations for women planning for pregnancy

Roger Peverill and Aarti Patel

There is little data available about pregnancy in women with FRDA and reduced left ventricular ejection fraction (LVEF) who are either asymptomatic or have heart failure (HF) symptoms. Based upon data in other cardiac conditions (6), it should be assumed that there is a high risk of maternal and fetal complications in women with FRDA and either reduced LVEF or a history of HF; therefore, avoidance of pregnancy should be recommended in such individuals (7).

Women with FRDA and reduction in LVEF should be advised that pregnancy could result in cardiac decompensation and greater fetal risk and that it is therefore advised against. Pre-pregnancy counseling including consultation with a multidisciplinary team, including a cardiologist and an obstetrician, may assist in decision making.

Jump to Recommendations

Jump to Best practice statements

Jump to Lay summary

Please note: Recommendations are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group. Best Practice Statements are commonly accepted practices, as such formal rating of the quality of evidence by the GRADE process is not indicated. In addition if recommendations from the 2014 guidelines were deemed still relevant, although unable to undergo the scrutiny from a GRADE framework, they were also included as best practice statements.
Women with reduced ejection fraction planning pregnancy

QUESTION: Should advice on avoiding pregnancy versus pursuing or not avoiding pregnancy be used for high risk pregnancy (patients with reduced ejection fraction with or without heart failure) with Friedreich ataxia?

STRENGTH OF RECOMMENDATION:
LEVEL OF EVIDENCE: ⨁◯◯◯

RECOMMENDATION: We conditionally recommend that women with Friedreich ataxia with reduced ejection fraction with or without heart failure be advised of the risks of mortality and morbidity associated with commencing or proceeding with a pregnancy.

JUSTIFICATION: Women with Friedreich ataxia with reduced ejection fraction with or without heart failure are at significant risk of mortality and morbidity. Evidence for this is apparent from women with other (non-Friedreich ataxia-related) cardiomyopathies and associated reduced ejection fraction with or without heart failure.

SUBGROUP CONSIDERATION: This recommendation is for women with Friedreich ataxia with reduced ejection fraction with or without heart failure.

Evidence to Recommendation Table PDF
Please note: Recommendations are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group. Best Practice Statements are commonly accepted practices, as such formal rating of the quality of evidence by the GRADE process is not indicated. In addition if recommendations from the 2014 guidelines were deemed still relevant, although unable to undergo the scrutiny from a GRADE framework, they were also included as best practice statements.
Pregnancy in women with Friedreich ataxia and a reduced left ventricular ejection fraction and/or a history of heart failure is likely to be associated with an increased risk of adverse maternal and fetal outcomes. Pre-pregnancy counseling for such women is suggested, including consultation with a multidisciplinary team that should include a cardiologist and an obstetrician.

Lay summary of clinical recommendation for planning pregnancy for women with Friedreich ataxia with reduced ejection fraction

Why this recommendation?

This recommendation suggests that women with Friedreich ataxia with reduced ejection fraction (that is where muscles of the left ventricle of the heart do not pump well) who are either contemplating pregnancy or are pregnant should be advised of the risks of significant health issues for them and their baby if they become pregnant or continue a pregnancy.

What does this mean for you as a person living with Friedreich ataxia or caring for someone living with Friedreich ataxia?

If you are thinking about becoming pregnant or you are already pregnant, it might be important for you to speak with your healthcare professional about Friedreich ataxia and pregnancy and what it means for you.

Who is this recommendation specifically for? 

This recommendation is specifically for women with Friedreich ataxia and reduced ejection fraction with or without heart failure.

Aarti Patel, MD
Associate Professor of Medicine, University of South Florida, Tampa, Florida, USA
Email: apatel15@usf.edu

Roger E. Peverill, MBBS, PhD
Cardiologist, MonashHeart, Monash Health, Clayton, Victoria, Australia
Email: roger.peverill@monash.edu

1. 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.

2. Armstrong BA, Howat PW. Pregnancy in a woman with Friedreich’s ataxia complicated by pulmonary embolism. Aust N Z J Obstet Gynaecol. 2002;42(1):88-90.

3. Bruner JP, Yeast JD. Pregnancy associated with Friedreich ataxia. Obstet Gynecol. 1990;76(5 Pt 2):976-7.

4. Kubal K, Pasricha SK, Bhargava M. Spinal anesthesia in a patient with Friedreich’s ataxia. Anesth Analg. 1991;72(2):257-8.

5. MacKenzie WE. Pregnancy in women with Friedreich’s ataxia. British Medical Journal Clinical Research Ed. 1986;293(6542):308.

6. Siu SC, Sermer M, Harrison DA, Grigoriadis E, Liu G, Sorensen S, et al. Risk and predictors for pregnancy-related complications in women with heart disease. Circulation. 1997;96(9):2789-94.

7. Schaufelberger M. Cardiomyopathy and pregnancy. Heart. 2019;105(20):1543-51.

8. Hammerslough CR. Estimating the probability of spontaneous abortion in the presence of induced abortion and vice versa. Public Health Rep. 1992;107(3):269-77.

9. American College of Obstetricians and Gynecologists. ACOG Practice Bulletin. Assessment of risk factors for preterm birth. Clinical management guidelines for obstetrician-gynecologists. Number 31, October 2001. (Replaces Technical Bulletin number 206, June 1995; Committee Opinion number 172, May 1996; Committee Opinion number 187, September 1997; Committee Opinion number 198, February 1998; and Committee Opinion number 251, January 2001). . Obstet Gynecol. 2001;98(4):709-16.

10. International Association of Diabetes and Pregnancy Study Groups Consensus Panel, Metzger BE, Gabbe SG, Persson B, Buchanan TA, Catalano PA, et al. International association of diabetes and pregnancy study groups recommendations on the diagnosis and classification of hyperglycemia in pregnancy. Diabetes Care. 2010;33(3):676-82.

11. Lindheimer MD, Taler SJ, Cunningham FG. Hypertension in pregnancy. J Am Soc Hypertens. 2008;2(6):484-94.

12. Lydakis C, Beevers M, Beevers DG, Lip GY. The prevalence of pre-eclampsia and obstetric outcome in pregnancies of normotensive and hypertensive women attending a hospital specialist clinic. Int J Clin Pract. 2001;55(6):361-7.

13. American Diabetes Association. 2. Classification and diagnosis of diabetes: Standards of Medical Care in Diabetes-2021. Diabetes Care. 2021;44:S15-S33.

14. Dommergues M, Candilis D, Becerra L, Thoueille E, Cohen D, Viaux-Savelon S. Childbirth and motherhood in women with motor disability due to a rare condition: an exploratory study. Orphanet J Rare Dis. 2021;16(1):176.

15. Cunningham F, Williams J. Cesarean delivery and peripartum hysterectomy. 22nd ed. New York: McGraw Hill; 2005.

16. Liu Z, Dow WH, Norton EC. Effect of drive-through delivery laws on postpartum length of stay and hospital charges. J Health Econ. 2004;23(1):129-55.

17. Paul RH, Miller DA. Cesarean birth: how to reduce the rate. Am J Obstet Gynecol. 1995;172(6):1903-7; discussion 7-11.

18. Miyasaki JM, Aldakheel A. Movement disorders in pregnancy. Continuum (Minneap Minn). 2014;20(1 Neurology of Pregnancy):148-61.

19. The Royal Australian and New Zealand College of Obstetricians and Gynaecologists. Intrapartum fetal surveillance. Clinical guidelines – fourth edition. www.ranzcog.edu.au: RANZCOG; 2019.

These Guidelines are systematically developed evidence statements incorporating data from a comprehensive literature review of the most recent studies available (up to the Guidelines submission date) and reviewed according to the Grading of Recommendations, Assessment Development and Evaluations (GRADE) framework © The Grade Working Group.

This chapter of the Clinical Management Guidelines for Friedreich Ataxia and the recommendations and best practice statements contained herein were endorsed by the authors and the Friedreich Ataxia Guidelines Panel in 2022.

It is our expectation that going forward individual topics can be updated in real-time in response to new evidence versus a re-evaluation and update of all topics simultaneously.

For the rating of the strength of the recommendation, in addition to evidence from studies in FRDA, evidence from like conditions, clinical experience and expert consensus are taken into account when published evidence is not available.

The level of evidence is based on published evidence from studies in FRDA. If there is no published evidence in FRDA, evidence from other like conditions or clinical expertise may have been used to make the recommendation – this is graded as ‘very low’ or in some cases ‘low’ level evidence. See the table below for an explanation of the symbols used to grade recommendations.

Strength of recommendation Symbol Level of evidence Symbol
Strong for intervention ↑↑ High ⨁⨁⨁⨁
Conditional for intervention Moderate ⨁⨁⨁◯
Neither intervention nor comparison Low ⨁⨁◯◯
Conditional against intervention Very low ⨁◯◯◯
Strong against intervention ↓↓
Close