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. 2012;7(4):e35965.
doi: 10.1371/journal.pone.0035965. Epub 2012 Apr 27.

Rib cage deformities alter respiratory muscle action and chest wall function in patients with severe osteogenesis imperfecta

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Rib cage deformities alter respiratory muscle action and chest wall function in patients with severe osteogenesis imperfecta

Antonella LoMauro et al. PLoS One. 2012.

Abstract

Background: Osteogenesis imperfecta (OI) is an inherited connective tissue disorder characterized by bone fragility, multiple fractures and significant chest wall deformities. Cardiopulmonary insufficiency is the leading cause of death in these patients.

Methods: Seven patients with severe OI type III, 15 with moderate OI type IV and 26 healthy subjects were studied. In addition to standard spirometry, rib cage geometry, breathing pattern and regional chest wall volume changes at rest in seated and supine position were assessed by opto-electronic plethysmography to investigate if structural modifications of the rib cage in OI have consequences on ventilatory pattern. One-way or two-way analysis of variance was performed to compare the results between the three groups and the two postures.

Results: Both OI type III and IV patients showed reduced FVC and FEV(1) compared to predicted values, on condition that updated reference equations are considered. In both positions, ventilation was lower in OI patients than control because of lower tidal volume (p<0.01). In contrast to OI type IV patients, whose chest wall geometry and function was normal, OI type III patients were characterized by reduced (p<0.01) angle at the sternum (pectus carinatum), paradoxical inspiratory inward motion of the pulmonary rib cage, significant thoraco-abdominal asynchronies and rib cage distortions in supine position (p<0.001).

Conclusions: In conclusion, the restrictive respiratory pattern of Osteogenesis Imperfecta is closely related to the severity of the disease and to the sternal deformities. Pectus carinatum characterizes OI type III patients and alters respiratory muscles coordination, leading to chest wall and rib cage distortions and an inefficient ventilator pattern. OI type IV is characterized by lower alterations in the respiratory function. These findings suggest that functional assessment and treatment of OI should be differentiated in these two forms of the disease.

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Conflict of interest statement

Competing Interests: The authors have declared that no competing interests exist.

Figures

Figure 1
Figure 1. Thoraco-abdominal volume variations during spontaneous breathing.
Time courses of the volumes of the rib cage (sum of the pulmonary and abdominal rib cage), abdomen and total chest wall during ten seconds of consecutive breaths at rest in supine position in a representative OI type III patient (left panes) and a representative healthy control subject (right panels). The thick lines highlight a single breath.
Figure 2
Figure 2. Assessment of chest wall geometry and rib cage deformity by markers' projections.
Experimental set-up for the analysis of chest wall volumes via optoelectronic plethysmography in supine (a) and seated (b) position on a representative OI type III patient. c: schematic view of the markers on the transversal plane at the xiphosternal level, in which medio-lateral diameter (distance between markers A and B), antero-posterior diameter (distance between markers C and D), area (grey area) and transversal angle (angle formed between lines CE and CF) are shown; d: schematic view of the markers on the sagittal plane in which trunk height (distance between markers G and H), and sagittal sternal angle (enclosed within lines CL and CM) are shown.
Figure 3
Figure 3. Transversal and sagittal sections of OI type III, OI type IV and controls.
Markers' projection on the transversal (left) and sagittal (right) views of the markers (at xiphoid and sternal level, respectively) on three representative subjects: OI type III (top), OI type IV (middle) and healthy control (bottom).
Figure 4
Figure 4. Thoraco-abdominal contribution to tidal volume.
Average values ± SE of pulmonary rib cage (top panels), abdominal rib cage (middle panels) and abdominal (bottom panels) percentage contribution to tidal volume in OI type III patients (black bars), OI type IV (grey bars) and control group (white bars) in supine (left panels) and seated (right panels) position. °°, °°° : p<0.01, p<0.001 (vs control); *, **, ***: p<0.05, p<0.01, p<0.001 (vs OI type IV); •,••,•••: p<0.01, p<0.001 (vs seated).
Figure 5
Figure 5. Thoraco-abdominal asynchronies.
Average values ± SE of phase angle ΦTA between pulmonary rib cage and abdomen (top panels), phase angle ΦRC between pulmonary rib cage and abdominal rib cage (middle panels) and labored breathing index (bottom panels) in OI type III patients (black bars), OI type IV (grey bars) and control group (white bars) in supine (left panels) and seated (right panels) position. °, °°, °°°: p<0.05, p<0.01, p<0.001 (vs control); *, **, ***: p<0.05, p<0.01, p<0.001 (vs OI type IV); ••,•••: p<0.01, p<0.001 (vs seated).

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