Management of thoracic insufficiency syndrome in patients with Jarcho-Levin syndrome using VEPTRs (vertical expandable prosthetic titanium ribs)

J Bone Joint Surg Am. 2014 Nov 5;96(21):e181. doi: 10.2106/JBJS.M.00185.

Abstract

Background: Jarcho-Levin syndrome represents a spectrum of clinical and radiographic irregularities including abnormal vertebral segmentation or formation defects, rib deformities, and short-trunk dwarfism. These abnormalities cause reduced thoracic capacity for lung development, resulting in thoracic insufficiency syndrome. In the present study, we reviewed outcome measures related to scoliotic curve correction, thoracic growth, and respiratory function following VEPTR treatment in patients with Jarcho-Levin syndrome.

Methods: Twenty-nine patients with Jarcho-Levin syndrome, subclassified as spondylocostal dysostosis (SCD) or spondylothoracic dysplasia (STD), were treated with VEPTR expansion thoracoplasty and followed for at least two years since the initial implantation. Spinal and respiratory measures were collected prior to the initial VEPTR implantation, immediately after implantation, and at the most recent follow-up.

Results: VEPTR treatment was associated with improved clinical respiratory function and with increases in thoracic height (by 50% in the SCD group and 42% in the STD group) and thoracic width (by 37% in the SCD group and 28% in the STD group). VEPTR treatment resulted in scoliosis curve correction (improvement in the Cobb angle of 41% [22°] in the SCD group and 26% [3.7°] in the STD group) and in improved thoracic symmetry in patients with SCD. Patients with SCD displayed increased lumbar lordosis, and both groups of patients developed increased thoracic kyphosis approaching normal.

Conclusions: VEPTR treatment improved thoracic symmetry, controlled spinal deformity, and was associated with improved clinical respiratory function.

MeSH terms

  • Abnormalities, Multiple / diagnostic imaging
  • Abnormalities, Multiple / surgery
  • Child, Preschool
  • Female
  • Follow-Up Studies
  • Heart Defects, Congenital / complications*
  • Heart Defects, Congenital / diagnostic imaging
  • Heart Defects, Congenital / surgery
  • Hernia, Diaphragmatic / complications*
  • Hernia, Diaphragmatic / diagnostic imaging
  • Hernia, Diaphragmatic / surgery
  • Humans
  • Male
  • Prostheses and Implants*
  • Prosthesis Design
  • Radiography
  • Respiratory Insufficiency / etiology
  • Respiratory Insufficiency / surgery*
  • Retrospective Studies
  • Ribs / abnormalities*
  • Scoliosis / etiology
  • Scoliosis / surgery*
  • Syndrome
  • Thoracoplasty / methods*
  • Titanium
  • Treatment Outcome

Substances

  • Titanium

Supplementary concepts

  • Jarcho-Levin syndrome