MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients
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DOI：
10.1186/s13023-016-0476-1
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发表时间：
2016-07-07
影响因子：
3.7
通讯作者：
Bruno, C.
中科院分区：
文献类型：
--
作者：
Fiorillo, C.;Astrea, G.;Bruno, C.
背景：肌球蛋白重链7（MYH7）相关肌病正成为儿童和成人肌肉疾病的一个重要类别，其临床和组织病理学表现因突变的类型和位置而异。头部和颈部结构域的突变是肥厚型心肌病的一个明确病因，而远端区域的突变则与一系列伴有或不伴有心脏受累的骨骼肌病相关，包括莱因远端肌病和肌球蛋白贮积性肌病。最近，与MYH7突变相关的临床表型谱有所增加，这使得上述分类变得模糊，并在列表中增加了更多表型。更广泛的疾病谱可能导致不同先天性肌病、神经源性萎缩和其他神经肌肉疾病的误诊。
结果：通过一项意大利多中心研究，我们收集了来自15个家庭的21例患者的临床、组织病理学和影像学数据，这些患者携带已报道的或新的MYH7突变。患者表现出多种表型，包括非典型症状，如垂头和脊柱弯曲，这些症状无法归入先前描述的类别。半数患者表现为先天性或婴儿早期肌无力，以远端肌无力为主。相反，发病较晚的患者则以近端肌无力为主。7名患者还患有心肌病，大多表现为左心室心肌致密化不全。在许多病例中，肌肉活检符合微小核心肌病。肌肉磁共振成像在描绘胫骨前肌选择性受累的共同模式方面具有重要意义，同时股四头肌相对不受累。
结论：这项工作增加了MYH7相关肌病的基因型 - 表型相关性，证实了该疾病的复杂性。
Background: Myosin heavy chain 7 ( MYH7)-related myopathies are emerging as an important group of muscle diseases of childhood and adulthood, with variable clinical and histopathological expression depending on the type and location of the mutation. Mutations in the head and neck domains are a well-established cause of hypertrophic cardiomyopathy whereas mutation in the distal regions have been associated with a range of skeletal myopathies with or without cardiac involvement, including Laing distal myopathy and Myosin storage myopathy. Recently the spectrum of clinical phenotypes associated with mutations in MYH7 has increased, blurring this scheme and adding further phenotypes to the list. A broader disease spectrum could lead to misdiagnosis of different congenital myopathies, neurogenic atrophy and other neuromuscular conditions.Results: As a result of a multicenter Italian study we collected clinical, histopathological and imaging data from a population of 21 cases from 15 families, carrying reported or novel mutations in MYH7. Patients displayed a variable phenotype including atypical pictures, as dropped head and bent spine, which cannot be classified in previously described groups. Half of the patients showed congenital or early infantile weakness with predominant distal weakness. Conversely, patients with later onset present prevalent proximal weakness. Seven patients were also affected by cardiomyopathy mostly in the form of non-compacted left ventricle. Muscle biopsy was consistent with minicores myopathy in numerous cases. Muscle MRI was meaningful in delineating a shared pattern of selective involvement of tibialis anterior muscles, with relative sparing of quadriceps.Conclusion: This work adds to the genotype-phenotype correlation of MYH7-relatedmyopathies confirming the complexity of the disorder.