The Heart in Friedreich Ataxia

Weidemann, Frank; Rummey, Christian; Bijnens, Bart; Störk, Stefan; Jasaitytė, Rūta; D’hooge, Jan; Baltabaeva, Aigul; Sutherland, George R.; Schulz, Jörg B.; Meier, Thomas

doi:10.1161/circulationaha.111.059477

Cited by 119 publications

(73 citation statements)

References 29 publications

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“…72,199 More recent reports suggest that cardiac morphology progresses from normal to concentric biventricular hypertrophy with preserved systolic function and ultimately to a dilated, hypocontractile phenotype because of regression of hypertrophy accompanying myocardial fibrosis. 200,201 The interventricular septal thickness at end diastole has been used to categorize the severity of cardiac involvement in FA; however, the prognostic utility of this scheme has not yet been assessed. 201 Because no relationship between severity of cardiac involvement and neurological status has been identified, regular cardiac evaluation regardless of neurological status is likely warranted.…”

Section: Cardiac Evaluation In Famentioning

confidence: 99%

“…200,201 The interventricular septal thickness at end diastole has been used to categorize the severity of cardiac involvement in FA; however, the prognostic utility of this scheme has not yet been assessed. 201 Because no relationship between severity of cardiac involvement and neurological status has been identified, regular cardiac evaluation regardless of neurological status is likely warranted. 201 Echocardiography has been the mainstay of cardiac morphological and functional imaging in FA, but the use of CMR in FA is potentially appealing on the basis of its ability to recognize iron overload.…”

Section: Cardiac Evaluation In Famentioning

confidence: 99%

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Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

223

195

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For many neuromuscular diseases (NMDs), cardiac disease represents a major cause of morbidity and mortality. The management of cardiac disease in NMDs is made challenging by the broad clinical heterogeneity that exists among many NMDs and by limited knowledge about disease-specific cardiovascular pathogenesis and course-modifying interventions. The overlay of compromise in peripheral muscle function and other organ systems, such as the lungs, also makes the simple application of endorsed adult or pediatric heart failure guidelines to the NMD population problematic. In this statement, we provide background on several NMDs in which there is cardiac involvement, highlighting unique features of NMD-associated myocardial disease that require clinicians to tailor their approach to prevention and treatment of heart failure. Undoubtedly, further investigations are required to best inform future guidelines on NMD-specific cardiovascular health risks, treatments, and outcomes. N euromuscular diseases (NMDs) encompass a broad spectrum of diagnoses with overlapping but distinct phenotypes. Common to many NMDs is cardiac involvement. Although the past 3 decades have seen marked advances in our understanding of many NMDs, significant gaps in knowledge remain on how best to approach cardiac care in these patients. For example, survival in Duchenne muscular dystrophy (DMD) has been extended through the use of glucocorticoid use and respiratory support, yet cardiac complications remain a significant cause of morbidity and mortality.1-3 To achieve further gains in care, we will need to improve our understanding of the pathophysiologies driving cardiac involvement in NMDs and advance treatments aimed at preventing the progression of heart failure (HF) and sudden death in NMDs. The recently published findings of an expert working group on cardiac involvement in DMD, which outlined key gaps in knowledge and made specific recommendations aimed at improving diagnosis and management, are a step toward this goal. 4 In this statement, we include a comprehensive overview of the major categories of NMDs with cardiac involvement. For each, a brief background of the gene defect(s), common clinical manifestations (particularly cardiac findings), and current therapies is summarized. Gaps in knowledge are highlighted, and where possible, clinical treatment suggestions are made by the expert writing group appointed by the American Heart Association to review the available literature. Selection of the writing group was performed in accordance with the American Heart Association's conflict-of-interest management policy. Participants volunteered to write sections relevant to their expertise and experience. CLINICAL STATEMENTS AND GUIDELINESconducted a general search of the literature, restricted to human subjects research published between 1980 and 2016. Drafts of each section were written and sent to the chair of the writing group for incorporation into a single document, which was then edited. The edited document was discussed electron...

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Section: Cardiac Evaluation In Famentioning

confidence: 99%

Section: Cardiac Evaluation In Famentioning

confidence: 99%

Management of Cardiac Involvement Associated With Neuromuscular Diseases: A Scientific Statement From the American Heart Association

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

223

195

View full text Add to dashboard Cite

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“…This suggests that a proportion of this group who were classified as normal had increased relative wall thickness and may therefore have had FA myocardial involvement. 2 GAA repeat length on the shorter allele of the FXN gene (GAA1) is a predictor of age at symptom onset, has been a predictor of cardiac involvement in FA in a number of previous studies, 3,4 and is possibly of most importance is a predictor of earlier mortality. 1 It is therefore an important consideration that no relation of GAA1 with the proposed FA cardiomyopathy staging system was evident.…”

Section: To the Editormentioning

confidence: 99%

“…2 This then led to investigation of the univariate correlates of cardiac magnetic resonance-determined LV mass and the conclusion that echocardiographic interventricular septal thickness at end-diastole provides a reliable method to detect LV hypertrophy in FA. However, the reported correlation coefficient of 0.49 for interventricular septal thickness at end-diastole with LV mass indicates only a modest relationship for a predictive variable, and using only interventricular septal thickness at end-diastole to predict LV mass does not take into consideration a possible independent contribution of LV end-diastolic diameter, which had a similar correlation coefficient with LV mass on univariate analysis (rϭ0.46).…”

mentioning

confidence: 99%

Letter by Peverill Regarding Article, “The Heart in Friedreich Ataxia: Definition of Cardiomyopathy, Disease Severity, and Correlation With Neurological Symptoms”

Peverill

2012

Circulation

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In Friedreich ataxia (FA), cardiac disease is the major cause of premature mortality 1 and a common cause of symptoms, yet our understanding of the nature of the myocardial involvement in FA remains incomplete. Weidemann et al 2 are therefore to be congratulated for their report on comprehensive cardiac data acquired from a large cohort of FA subjects. The main aim of the study was the development of criteria for staging of the cardiomyopathy in FA; however, there are assumptions underlying the analysis that merit further consideration.One assumption of Weidemann et al is that an increase in left ventricular (LV) mass is the main cardiac feature in FA. 2 This then led to investigation of the univariate correlates of cardiac magnetic resonance-determined LV mass and the conclusion that echocardiographic interventricular septal thickness at end-diastole provides a reliable method to detect LV hypertrophy in FA. However, the reported correlation coefficient of 0.49 for interventricular septal thickness at end-diastole with LV mass indicates only a modest relationship for a predictive variable, and using only interventricular septal thickness at end-diastole to predict LV mass does not take into consideration a possible independent contribution of LV end-diastolic diameter, which had a similar correlation coefficient with LV mass on univariate analysis (rϭ0.46). Moreover, concomitant consideration of LV end-diastolic diameter may be of particular importance in FA, where increased wall thickness is commonly associated with decreased LV end-diastolic diameter. 3 Such a pattern of LV remodeling results in increased relative wall thickness, and thus an abnormal left ventricle, but LV mass can remain within the normal range. 3 Using interventricular septal thickness at end-diastole without also considering LV end-diastolic diameter has led to a potential anomaly in the staging system, where the mean relative wall thickness in the group, defined as having no cardiomyopathy, is at the upper limit of the normal range. This suggests that a proportion of this group who were classified as normal had increased relative wall thickness and may therefore have had FA myocardial involvement. 2 GAA repeat length on the shorter allele of the FXN gene (GAA1) is a predictor of age at symptom onset, has been a predictor of cardiac involvement in FA in a number of previous studies, 3,4 and is possibly of most importance is a predictor of earlier mortality. 1 It is therefore an important consideration that no relation of GAA1 with the proposed FA cardiomyopathy staging system was evident.Mortality can occur in childhood in FA, and the mean age of death is in the mid 30s, 1 indicating that age may also need to be a consideration in the classification of cardiomyopathy in FA subjects aged 8 to 70 years. It could be argued that subjects who died prematurely of a cardiac cause had severe cardiac disease, yet those subjects clearly could not be part of the analysis. Indeed, one interpretation of previous reports of an inverse relation between L...

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“…In the current issue of Circulation, the Mitochondrial Protection With Idebenone in Cardiac or Neurological Outcome (MICONOS) study group investigated such markers. 4 …”

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confidence: 99%