Topic 4.2. Surveillance strategies to monitor cardiac function in Friedreich ataxia
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.
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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.
4.2 Surveillance strategies to monitor cardiac function in Friedreich ataxia
Roger E. Peverill, Kimberly Y. Lin, Francoise Pousset, Aarti Patel and Konstantinos Savvatis
It is recommended that all individuals with a diagnosis of FRDA have an EKG and echocardiogram performed as part of their initial evaluation and that the EKG and echocardiogram are repeated at least yearly thereafter, irrespective of the initial findings. Cardiology consultation should be considered for all individuals with FRDA, but is definitely indicated if there are cardiac symptoms or an abnormality on the EKG. Although there is much current interest in cardiology in the measurement of strain and left ventricular long-axis strain is reduced in FRDA at an early stage in the disease course (39), the role of routine measurement of long-axis strain by either echocardiography or cardiac magnetic resonance in FRDA is unclear. Similarly, cardiac magnetic resonance studies have demonstrated that there can be focal myocardial fibrosis in the left ventricular myocardium in FRDA based on the presence of LGE (11, 19, 59, 60), but whether this finding provides clinically useful information in FRDA is unknown.
Advanced imaging
QUESTION: Should advanced imaging techniques in echocardiography and/or cardiac magnetic resonance imaging (e.g., strain and late gadolinium enhancement) versus standard imaging techniques (e.g., measurement of left ventricular ejection fraction, size and wall thickness) be used for identification of at-risk individuals with Friedreich ataxia?
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[/sg_popup]STRENGTH OF RECOMMENDATION: —
[sg_popup id=”658″ event=”click”][/sg_popup]LEVEL OF EVIDENCE: ⨁◯◯◯
RECOMMENDATION: There is not sufficient evidence to make a recommendation for or against using advanced imaging techniques over standard echocardiography for identifying at-risk individuals with Friedreich ataxia.
JUSTIFICATION: Echocardiography is the standard technique for screening for cardiac disease in Friedreich ataxia.
SUBGROUP CONSIDERATION: None.
Evidence to Recommendation Table PDFRoutine Holter monitoring
QUESTION: Should routine surveillance Holter monitors (e.g., at least annually) versus Holter monitors only to investigate symptoms be performed for individuals with Friedreich ataxia?
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[sg_popup id=”658″ event=”click”][/sg_popup]LEVEL OF EVIDENCE: ⨁◯◯◯
RECOMMENDATION: There is not sufficient evidence to make a recommendation about Holter monitoring for individuals with Friedreich ataxia who do not have symptoms suggesting they might have an arrhythmia.
JUSTIFICATION: There is a lack of evidence for benefit of Holter monitoring for individuals with Friedreich ataxia without symptoms suggesting an arrhythmia, while risks include over-medicalization with unnecessary testing and detection of abnormalities of uncertain significance (e.g., premature atrial contractions without sustained arrhythmia).
SUBGROUP CONSIDERATION: None
Evidence to Recommendation Table PDFEither 24-hour Holter monitoring or Loop monitoring, or possibly both tests, are indicated for individuals with palpitations or other symptoms suggesting the possibility of an arrhythmia. A Loop monitor will be an appropriate additional test when symptoms are infrequent.
Evaluation by a cardiologist should take place if an individual with Friedreich ataxia has cardiac symptoms or abnormal results on cardiac testing.
Individuals with Friedreich ataxia being considered for scoliosis surgery, or other major surgery, are at risk of a poor outcome and require a multi-disciplinary approach to the management of heart function during surgery and in the postoperative period.
Lay summary of clinical recommendations for monitoring cardiac function in Friedreich ataxia
Why these recommendations?
People with Friedreich ataxia often experience heart (cardiac) problems and cardiac disease is a common cause of death. These recommendations are to help guide the selection and frequency of cardiac testing for individuals with Friedreich ataxia.
The authors suggest that for all individuals with Friedreich ataxia an electrocardiogram (EKG) and echocardiogram should be performed at diagnosis of Friedreich ataxia and then at least annually. However, at this stage it is unclear whether advanced imaging techniques such as cardiac magnetic resonance imaging should be used over standard echocardiography for identifying individuals with Friedreich ataxia who are at risk of heart disease.
In addition, a Holter monitor should be used if an individual with Friedreich ataxia has heart palpitations, but at this time it is unclear whether routine Holter monitoring should be done when there are no symptoms of heart problems.
What does this mean for you as a person living with Friedreich ataxia or caring for someone living with Friedreich ataxia?
It may be important for you to speak with your healthcare professional about Friedreich ataxia and cardiac monitoring and what it means for you.
Who are these recommendations specifically for?
These recommendations are for all individuals with Friedreich ataxia.
Associate Professor, Children’s Hospital of Philadelphia, Philadelphia, Pennsylvania, USA
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
Francoise Pousset, MD
Sorbonne Université, Cardiology Department, AP-HP, Pitié-Salpêtrière University Hospital, Paris, France
Email: f.pousset@aphp.fr
Konstantinos Savvatis, MD, PhD
Consultant Cardiologist, St. Bartholomew’s Hospital, Barts Health NHS Trust, London, UK
Email: k.savvatis@ucl.ac.uk
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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.