Cardiac dystrophin abnormalities in Becker muscular dystrophy assessed by endomyocardial biopsy

Maeda, Masato; Nakao, Schoichiro; Miyazato, Hirotaka; Setoguchi, Manabu; Arima, Schinichi; Higuchi, Itsuro; Osame, Mitsuhiro; Taira, Akira; Nomoto, Kunihiro; Toda, Hitoshi; Tahara, Masaki; Atsuschi, Yoshihiko; Tanaka, Hiromitsu

doi:10.1016/0002-8703(95)90319-4

Cited by 32 publications

(24 citation statements)

References 16 publications

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“…CI in patients manifests as arrhythmias, other ECG abnormalities, hCMP, dilation of the cardiac cavities with preserved systolic function, dCMP, heart failure or sudden cardiac death. CI is not well correlated with the severity of skeletal muscle involvement (58), as confirmed in cases in which CI preceded the onset of skeletal muscle manifestation by years, and in cases of patients who were wheelchair-bound but did not develop CI. Management of CI in BMD requires the referral of all BMD patients to the cardiologist as soon as the diagnosis has been established.…”

Section: Discussionmentioning

confidence: 95%

“…In addition, there may be cytoplasmic lipofuscinosis, focal lymphocytic infiltration, huge, pleomorphic, bizarre myonuclei of variable size, shape and staining, and focal necrosis (8,12,28,30,57). No characteristic histological features distinguishing BMD from other Finsterer and Stöllberger cardiac diseases have ever been described (58). Immunohistochemical staining for dystrophin may reveal continuous, discontinuous or absent membrane immunoreactivity for dystrophin along the sarcoplasmic membrane (6,58).…”

Section: Endomyocardial Biopsymentioning

confidence: 99%

“…No characteristic histological features distinguishing BMD from other Finsterer and Stöllberger cardiac diseases have ever been described (58). Immunohistochemical staining for dystrophin may reveal continuous, discontinuous or absent membrane immunoreactivity for dystrophin along the sarcoplasmic membrane (6,58). Discontinuous immunoreactivity for cardiac dystrophin is characteristic of BMD.…”

Section: Endomyocardial Biopsymentioning

confidence: 99%

“…Discontinuous immunoreactivity for cardiac dystrophin is characteristic of BMD. Absent immunoreactivity is associated with more severe cardiac dysfunction (58). Concerning the question of immunoreactivity, recent studies failed to demonstrate the value of assessing every endomyocardial biopsy specimen from dCMP patients for dystrophin (58).…”

Section: Endomyocardial Biopsymentioning

confidence: 99%

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Cardiac involvement in Becker muscular dystrophy

Finsterer¹,

Stöllberger²

2008

Canadian Journal of Cardiology

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Section: Discussionmentioning

confidence: 95%

Section: Endomyocardial Biopsymentioning

confidence: 99%

Section: Endomyocardial Biopsymentioning

confidence: 99%

Section: Endomyocardial Biopsymentioning

confidence: 99%

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Cardiac involvement in Becker muscular dystrophy

Finsterer¹,

Stöllberger²

2008

Canadian Journal of Cardiology

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“…130 In general, there are fewer published references regarding cardiac involvement in BMD than for DMD. 13,19,37,[131][132][133][134][135][136][137] Approximately 70% of BMD patients develop dilated cardiomyopathy, mostly in the third decade of life or later. 19,132 They rarely develop severe dilated cardiomyopathy in childhood, 138 but when present in childhood, the cardiomyopathy tends to be more severe and progress more rapidly than in DMD.…”

Section: Cardiac Evaluation In Dmd and Bmdmentioning

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

214

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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