Management of Cardiac Involvement in NeuroMuscular Diseases: Review

Bouhouch, R.; Elhouari, T.; Oukerraj, Latifa; Fellat, Ibtissam; Zarzur, Jamila; Bennani, R.; Arharbi, M.

doi:10.2174/1874192400802010093

Cited by 16 publications

(12 citation statements)

References 14 publications

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“…185 Because sudden death can be the presenting cardiac feature, cardiac screening of individuals with EDMD and first-degree relatives (including female carriers of X-linked EDMD) has been recommended. 186,187 Follow-up and testing should be dictated by signs or symptoms of arrhythmia or HF, EDMD genotype, and echocardiographic features of dilation or dysfunction. The role of exercise testing remains unclear because of limitations in patients with significant contractures and muscle weakness.…”

Section: Cardiac Evaluation In Edmdmentioning

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

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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 Edmdmentioning

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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“…1,4 In recent years, cardiac involvement has been observed in a growing number of genetic muscle diseases, and considerable progress has been made in understanding the relationships between disease skeletal muscle and cardiac muscle disease. 12 Cardiologists may be unfamiliar with these diseases due to the low incidence; also, significant advances in respiratory care have only recently unmasked cardiomyopathy as a significant cause of death in MD. 13,14 In several forms of MD, cardiac disease may even be the predominant manifestation of the underlying genetic myopathy.…”

Section: Introductionmentioning

confidence: 99%

“…[5][6][7][8][9][10] Electrocardiography (ECG) and echocardiography are typically advocated for screening, 1,12 although very recently, cardiovascular magnetic resonance has shown promise in revealing early cardiac involvement when standard cardiac evaluation is unremarkable. [15][16][17] This review will focus on the skeletal muscle diseases most commonly associated with cardiac complications that can be diagnosed by echocardiography, such as dystrophin-associated diseases or dystrophinopathies that include Duchenne (DMD) and Becker (BMD) muscular dystrophies, cardiomyopathy of DMD/BMD carriers and X-L dilated cardiomyopathy.…”

Section: Introductionmentioning

confidence: 99%

Muscular Dystrophies: Key Elements for Everyday Diagnosis and Management

Palladino¹,

Nigro

Politano³

2013

Cardiogenetics

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Muscular dystrophies are a heterogeneous group of inherited disorders that share similar clinical features and dystrophic changes on muscle biopsy, associated with progressive weakness. Weakness may be noted at birth or develop in late adult life. In recent years, cardiac involvement has been observed in a growing number of genetic muscle diseases, and considerable progress has been made in understanding the relationships between disease skeletal muscle and cardiac muscle disease. This review will focus on the skeletal muscle diseases most commonly associated with cardiac complications that can be diagnosed by echocardiography, such as dystrophinopathies including Duchenne (DMD) and Becker (BMD) muscular dystrophies, cardiomyopathy of DMD/BMD carriers and X-L dilated cardiomyopathy.

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“…Angiotensin-converting enzyme inhibitors (ACEI) and β-blockers alone [1] or in combination [2,3] have been reported to improve systolic dysfunction in patients with myocardial affection in Duchenne muscular dystrophy (DMD) [4]. So far, a beneficial effect of combined ACEI and β-blocker therapy has been reported only in patients in whom DMD was due to deletions in the dystrophin gene [2,5], but not in patients with point mutations.…”

Section: Introductionmentioning

confidence: 99%

Recovery of Systolic Dysfunction in Duchenne Muscular Dystrophy due to the Point Mutation c.4213C>T

2010

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Objectives: So far, a beneficial effect of combined angiotensin-converting enzyme inhibitors (ACEI) and β-blocker therapy for systolic dysfunction in Duchenne muscular dystrophy (DMD) has been reported only in patients in whom DMD was due to deletions in the dystrophin gene. Case Report: In a 24-year-old male with DMD due to the point mutation c.4213C>T (p.Gln1405X) in exon 30 of the dystrophin gene, cardiologic examination at the age of 23 years revealed asymptomatic severely reduced systolic dysfunction with a fractional shortening of 14% in the absence of dilated cardiomyopathy. A combined therapy with enalapril (2.5 mg/day) and bisoprolol (1.25 mg/day) was initiated. After a slow increase in the dosage to 10 mg enalapril/day and 2.5 mg bisoprolol/day, systolic dysfunction resolved to a fractional shortening of 26% already after 7 months. Conclusions: This case shows that asymptomatic reduced systolic function also in patients with DMD due to a point mutation responds favourably to a combination therapy with ACEI and β-blockers.

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Management of Cardiac Involvement in NeuroMuscular Diseases: Review

Cited by 16 publications

References 14 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

Muscular Dystrophies: Key Elements for Everyday Diagnosis and Management

Recovery of Systolic Dysfunction in Duchenne Muscular Dystrophy due to the Point Mutation c.4213C>T

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