Analysis of Echocardiograms in a Large Heterogeneous Cohort of Patients With Friedreich Ataxia

Regner, Sean; Lagedrost, Sarah J.; Plappert, Ted; Paulsen, Erin K.; Friedman, Lisa S.; Snyder, Madeline; Perlman, Susan; Mathews, Katherine D.; Wilmot, George; Schadt, Kimberly; Sutton, Martin St. John; Lynch, David R.

doi:10.1016/j.amjcard.2011.09.025

Cited by 52 publications

(77 citation statements)

References 18 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%

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

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

220

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%

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

Feingold¹,

Mahle²,

Auerbach³

et al. 2017

Circulation

220

195

View full text Add to dashboard Cite

show abstract

“…One proposed risk factor is the length of the GAA repeat. In several studies, the degree of hypertrophy or specific measurements of hypertrophy have correlated with GAA repeat length on the smaller allele [37][38][39]. In addition, this is further strengthened by the observation that late-onset FRDA, defined as onset of neurologic symptoms after 25 years of age and found in patients with very short GAA repeat lengths, is not associated with cardiomyopathy [40].…”

Section: Frequency and Mechanismsmentioning

confidence: 97%

“…EF as a measure in FRDA has a wide distribution both exceeding and falling below values seen in controls [33,38]. Myocardial velocity gradients are reduced in patients with FRDA providing further evidence for depressed systolic function [60].…”

Section: Echocardiography In Frdamentioning

confidence: 98%

Management and therapy for cardiomyopathy in Friedreich’s ataxia

Lynch

Regner

Schadt

et al. 2012

Expert Review of Cardiovascular Therapy

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The autosomal-recessive disorder Friedreich's ataxia is characterized by progressive ataxia, often in association with cardiomyopathy. The most frequent cause of death is cardiac dysfunction, reflecting congestive heart failure, ventricular arrhythmias and cardio-embolic stroke. With the discovery of the underlying genetic mutation, a variety of novel therapies are now progressing into clinical trials. Consequently, it is crucial to understand the features of cardiomyopathy in this disease and how new treatments may improve cardiac function. The present artcle reviews the molecular basis of the disease, the clinical features of cardiomyopathy in Friedreich's ataxia and the upcoming therapies.

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“…End-diastolic interventricular septal thickness (IVSTd) is the best echocardiographic correlate of myocardial mass by cardiac magnetic resonance imaging (MRI) [27]. In a recent cross-sectional study of 173 patients in various stages of the disease, increased IVSTd was present in nearly 80% of the patient cohort [29]. Diastolic dysfunction was the most [31].…”

Section: Cardiovascular Manifestationsmentioning

confidence: 98%

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders

Sommerville

Vincenti

Winborn

et al. 2017

Trends in Cardiovascular Medicine

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Analysis of Echocardiograms in a Large Heterogeneous Cohort of Patients With Friedreich Ataxia

Cited by 52 publications

References 18 publications

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

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

Management and therapy for cardiomyopathy in Friedreich’s ataxia

Diagnosis and management of adult hereditary cardio-neuromuscular disorders: A model for the multidisciplinary care of complex genetic disorders

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