Dilated cardiomyopathy with centronuclear myopathy in a young male

Nomura, Seitaro; Funabashi, Nobusada; Sekiguchi, Yukari; Masuda, Saeko; Kuwabara, Satoshi; Misawa, Sonoko; Daimon, Michiko; Uehara, Masae; Miyaiuchi, Hideyuki; Komuro, Issei; Kobayashi, Yoshio

doi:10.1016/j.ijcard.2011.05.009

Cited by 4 publications

(1 citation statement)

References 12 publications

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“…100 In 143 cases of nemaline myopathy, 6 neonates developed transient HF and 1 infant developed LV dysfunction with congenital long-QT syndrome. 101 In another study with 66 patients with CM, no cardiac lesions were noted 102 ; however, hypertrophic, [103][104][105] dilated, [106][107][108][109][110] and LVNC cardiomyopathy phenotypes, 111,112 as well as sudden death, 113 have been described. Recessive mutations in TTN (encoding titin) and MYH7 (encoding myosin heavy chain-7) have been associated with minicore-like disease, with early development of dilated cardiomyopathy, ventricular arrhythmias, and sudden cardiac death.…”

Section: E208mentioning

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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