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Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography

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Abstract

Background

Mucopolysaccharidosis type IVA (MPS IVA) is characterized by progressive skeletal dysplasia and respiratory issues with difficult airway management during anesthesia.

Objective

To characterize tracheal abnormalities in children and adults with MPS IVA including interplay of the trachea, vasculature, bones and thyroid at the thoracic inlet.

Materials and methods

Computed tomography (CT) angiograms of the chest were analyzed for trachea shape, narrowing and deviation at the thoracic inlet, course of vasculature, bone alignment and thyroid location. The tracheal cross-sectional area was measured at the cervical, thoracic inlet and intrathoracic levels.

Results

Thirty-seven patients (mean age: 18.1 years) were included. The mean tracheal cross-sectional area narrowing at the thoracic inlet was 63.9% (range: −2.1–96%), with a trend for increased tracheal narrowing in older children. The trachea was commonly deviated rightward posterior (22/37, 59%). T- or W-shaped tracheas had two times greater tracheal narrowing than D- or U-shaped tracheas (P<0.05). The brachiocephalic artery was tortuous in 35/37 (95%) with direct impingement on the trachea in 24/37 (65%). No correlation was observed between bony thoracic inlet diameter and tracheal narrowing. The thyroid was located in the thoracic inlet in 28/37 (76%) cases, significantly associated with tracheal narrowing (P=0.016).

Conclusion

Narrowing, deviation and abnormal shape of the trachea at the thoracic inlet are common in children and adults with MPS IVA, with a trend toward increased narrowing with advancing age in children. A W- or T-shaped trachea is associated with focal tracheal narrowing. Crowding of the thoracic inlet, due to vascular tortuosity and thyroid position, appears to play a major role.

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Authors and Affiliations

  1. Department of Medical Imaging, Nemours/Alfred I. duPont Hospital for Children, 1600 Rockland Road, Wilmington, DE, 19803, USA

    Lauren W. Averill & Heidi H. Kecskemethy

  2. Department of Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

    Heidi H. Kecskemethy & Shunji Tomatsu

  3. Department of Anesthesiology and Critical Care Medicine, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

    Mary C. Theroux

  4. Department of Orthopaedics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

    William G. Mackenzie, Colleen P. Ditro & Shunji Tomatsu

  5. Nemours Cardiac Center, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

    Christian Pizarro

  6. Division of Genetics, Nemours/Alfred I. duPont Hospital for Children, Wilmington, DE, USA

    Michael B. Bober

Authors
  1. Lauren W. Averill
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  2. Heidi H. Kecskemethy
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  3. Mary C. Theroux
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  4. William G. Mackenzie
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  5. Christian Pizarro
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  6. Michael B. Bober
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  7. Colleen P. Ditro
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  8. Shunji Tomatsu
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Corresponding author

Correspondence to Lauren W. Averill.

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Conflicts of interest

Dr. Mackenzie has received a grant from Biomarin and is on the Little People of America Medical Advisory Board. Dr. Bober is a consultant and site primary investigator for Biomarin.

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Averill, L.W., Kecskemethy, H.H., Theroux, M.C. et al. Tracheal narrowing in children and adults with mucopolysaccharidosis type IVA: evaluation with computed tomography angiography. Pediatr Radiol 51, 1202–1213 (2021). https://doi.org/10.1007/s00247-020-04946-0

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  • DOI: https://doi.org/10.1007/s00247-020-04946-0

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