Pectus excavatum and heritable disorders of the connective tissue

  • Francesca Tocchioni | francescatocchioni@gmail.com Department of Pediatric Surgery, Children’s Hospital A. Meyer, Florence, Italy.
  • Marco Ghionzoli Department of Pediatric Surgery, Children’s Hospital A. Meyer, Florence, Italy.
  • Antonio Messineo Department of Pediatric Surgery, Children’s Hospital A. Meyer, Florence, Italy.
  • Paolo Romagnoli Department of Anatomy, Histology and Forensic Medicine, University of Florence, Florence, Italy.

Abstract

Pectus excavatum, the most frequent congenital chest wall deformity, may be rarely observed as a sole deformity or as a sign of an underlying connective tissue disorder. To date, only few studies have described correlations between this deformity and heritable connective tissue disorders such as Marfan, Ehlers-Danlos, Poland, MASS (Mitral valve prolapse, not progressive Aortic enlargement, Skeletal and Skin alterations) phenotype among others. When concurring with connective tissue disorder, cardiopulmonary and vascular involvement may be associated to the thoracic defect. Ruling out the concomitance of pectus excavatum and connective tissue disorders, therefore, may have a direct implication both on surgical outcome and long term prognosis. In this review we focused on biological bases of connective tissue disorders which may be relevant to the pathogenesis of pectus excavatum, portraying surgical and clinical implication of their concurrence.

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Published
2013-09-24
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Issue
Section
Reviews
Keywords:
pectus excavatum, Marfan syndrome, MASS, fibrillin, fibrillinopathies
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How to Cite
Tocchioni, F., Ghionzoli, M., Messineo, A., & Romagnoli, P. (2013). Pectus excavatum and heritable disorders of the connective tissue. Pediatric Reports, 5(3), e15. https://doi.org/10.4081/pr.2013.e15