viernes, 8 de julio de 2016

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients | Orphanet Journal of Rare Diseases | Full Text

MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients | Orphanet Journal of Rare Diseases | Full Text

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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients

  • C. FiorilloEmail author,
  • G. Astrea,
  • M. Savarese,
  • D. Cassandrini,
  • G. Brisca,
  • F. Trucco,
  • M. Pedemonte,
  • R. Trovato,
  • L. Ruggiero,
  • L. Vercelli,
  • A. D’Amico,
  • G. Tasca,
  • M. Pane,
  • M. Fanin,
  • L. Bello,
  • P. Broda,
  • O. Musumeci,
  • C. Rodolico,
  • S. Messina,
  • G. L. Vita,
  • M. Sframeli,
  • S. Gibertini,
  • L. Morandi,
  • M. Mora,
  • L. Maggi,
  • A. Petrucci,
  • R. Massa,
  • M. Grandis,
  • A. Toscano,
  • E. Pegoraro,
  • E. Mercuri,
  • E. Bertini,
  • T. Mongini,
  • L. Santoro,
  • V. Nigro,
  • C. Minetti,
  • F. M. Santorelli,
  • C. Bruno and
  • on behalf of the Italian Network on Congenital Myopathies
Contributed equally
Orphanet Journal of Rare Diseases201611:91
DOI: 10.1186/s13023-016-0476-1
Received: 11 February 2016
Accepted: 22 June 2016
Published: 7 July 2016


Abstract

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.

Keywords

Myosin heavy chain Distal myopathy Muscle MRI Muscle biopsy Whole exome sequencing

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