Anatomical, histologic, and genetic characteristics of congenital chest wall deformities

Semin Thorac Cardiovasc Surg. 2009 Spring;21(1):44-57. doi: 10.1053/j.semtcvs.2009.03.001.


There is a large and diverse group of congenital abnormalities of the thorax that manifest as deformities and/or defects of the anterior chest wall and, depending on the severity and concomitant anomalies, may have cardiopulmonary implications. Pectus excavatum, the most common anterior chest deformity, is characterized by sternal depression with corresponding leftward displacement and rotation of the heart. Pectus carinatum, the second most common, exhibits a variety of chest wall protrusions and very diverse clinical manifestations. The cause of these conditions is thought to be abnormal elongation of the costal cartilages. Collagen, as a major structural component of rib cartilage, is implicated by genetic and histologic analysis. Poland syndrome is a unique unilateral chest/hand deficiency that may include rib defects, pectoral muscle deficit, and syndactyly. Cleft sternum is a rare congenital defect resulting from nonfusion of the sternal halves, which leaves the heart unprotected and requires early surgical intervention.

Publication types

  • Review

MeSH terms

  • Funnel Chest / genetics
  • Funnel Chest / pathology
  • Funnel Chest / surgery
  • Genetic Predisposition to Disease
  • Humans
  • Musculoskeletal Abnormalities / complications
  • Musculoskeletal Abnormalities / genetics*
  • Musculoskeletal Abnormalities / pathology*
  • Musculoskeletal Abnormalities / surgery
  • Poland Syndrome / genetics
  • Poland Syndrome / pathology
  • Poland Syndrome / surgery
  • Sternum / abnormalities*
  • Thoracic Surgical Procedures
  • Thoracic Wall / abnormalities*