ABSTRACT
INTRODUCTION: There are no larger studies of adults with osteogenesis imperfecta (OI), focusing on the impact of spinal cord deformities on lung function assessment. OBJECTIVES: To assess prevalence and severity of spinal deformities and lung function in an adult population with OI and to explore whether compromise of lung function correlated with deformities of the spine. METHODS: Ninety-two adults with OI had radiographs of the spine, 75 underwent spirometry. Deformities were assessed radiographically using a semi-quantitative (SQ) approach grading each vertebra from mild to severe (0-3 SQ grades). The spinal deformity index (SDI) was calculated by summing the SQ grades of all vertebrae from TH4 to L4. Scoliosis was measured using the Cobb method. Pulmonary function tests were performed; both current measured and arm-span height were used for calculating the predicted lung volumes and flow rates. RESULTS: Vertebral deformities were found in 67%, the majority of deformities were found in the mid thoracic region. Scoliosis was found in 46%, nine patients exhibited torsion scoliosis. Median values of SDI were 2.0 in type I, 4.0 in type IV and 2.5 in the total population. Only correction with arm-span height had a significant impact on the assessment of lung function. Significant negative correlations were obtained when spirometry variables were correlated to spine deformities. CONCLUSIONS: OI patients show spinal deformities influencing body height and lung function. Lung function tests should be corrected for reductions in body height by using arm-span height. OI patients should be evaluated with spirometry when vertebral deformities are suspected.
Subject(s)
Osteogenesis Imperfecta/complications , Osteogenesis Imperfecta/physiopathology , Scoliosis/epidemiology , Scoliosis/physiopathology , Adult , Cohort Studies , Female , Humans , Lumbar Vertebrae/abnormalities , Male , Middle Aged , Osteogenesis Imperfecta/pathology , Prevalence , Scoliosis/diagnosis , Severity of Illness Index , Spirometry , Thoracic Vertebrae/abnormalities , Total Lung CapacityABSTRACT
We examined right ventricular (RV) and ascending pulmonary artery (PA1) dimensions in adults with osteogenesis imperfecta (OI). The survey included 99 adults with OI divided in 3 clinical types (I, III, and IV) and 52 controls. RV and PA1 dimensions were measured by echocardiography and indexed for body surface area. Scoliosis was registered, and spirometry was performed in 75 patients with OI. All RV dimensions indexed by body surface area were significantly larger in the OI group compared to controls (RV basal dimension 1.9 ± 0.5 vs 1.7 ± 0.3 cm/m(2), p <0.05; RV midcavity dimension 1.7 ± 0.5 vs 1.5 ± 0.3 cm/m(2), p <0.05; RV longitudinal dimension 4.3 ± 1.1 vs 4.0 ± 0.9 cm/m(2), p <0.05). RV outflow tract (RVOT) proximal diameter (1.8 ± 0.4 vs 1.5 ± 0.2 cm/m(2), p <0.05), RVOT distal diameter (1.2 ± 0.2 vs 1.0 ± 0.1 cm/m(2), p <0.05), and PA1 (1.2 ± 0.3 vs 1.0 ± 0.2 cm/m(2), p <0.05) were also significantly larger in the OI group. Furthermore, all RV dimensions and PA1 were significantly larger in patients with OI type III compared to patients with OI types I and IV and controls. There were no differences in RV, RVOT, or PA1 dimensions between patients presenting a restrictive ventilatory pattern (n = 11) and patients a normal ventilatory pattern. Scoliosis was registered in 42 patients. Patients with OI type III had greater RV and PA1 dimensions compared to controls and patients with OI types I and IV. Impaired ventilatory patterns and scoliosis did not have any impact on RV dimensions in these patients. In conclusion, patients with OI had increased RV and PA1 dimensions compared to the control group.
Subject(s)
Heart Ventricles/pathology , Osteogenesis Imperfecta/pathology , Pulmonary Artery/pathology , Adult , Aged , Aged, 80 and over , Body Surface Area , Case-Control Studies , Data Collection , Echocardiography , Female , Heart Ventricles/diagnostic imaging , Humans , Male , Middle Aged , Osteogenesis Imperfecta/diagnostic imaging , Pulmonary Artery/diagnostic imaging , Pulmonary Ventilation/physiology , Spirometry , Ventricular Function, Right/physiologySubject(s)
Ehlers-Danlos Syndrome/diagnosis , Joint Instability/diagnosis , Practice Guidelines as Topic , Adult , Age Factors , Aged , Denmark , Diagnosis, Differential , Ehlers-Danlos Syndrome/ethnology , Ethnicity , Female , Humans , Joint Instability/ethnology , Male , Middle Aged , Needs Assessment , Range of Motion, Articular/physiology , Risk Factors , Severity of Illness Index , Sex FactorsABSTRACT
BACKGROUND: The aim of this study was to investigate cardiac abnormalities in adults with osteogenesis imperfecta (OI). METHODS: The clinical and echocardiographic survey included 99 adults with OI divided into 3 clinical types-I, III, and IV-and 52 controls. Left ventricular end-diastolic dimensions (LVIDds), mass, and 4 aortic diameters were measured by standard echocardiography and indexed for body surface area. RESULTS: Hypertension was registered in 37 individuals (37.4%). The OI group had significantly lower body surface area than the control individuals, 1.7 ± 0.3 versus 1.9 ± 0.2 m(2) (P < .05). The LVIDd and LV mass were significantly larger in the OI group when compared with the controls, 2.98 ± .64 versus 2.59 ± .26 cm/m(2) (P < .05) and 97.3 ± 30.1 versus 73.3 ± 18.0 g/m(2) (P < .05), respectively. Type III OI showed significantly enlarged LVIDd as compared with types I and IV OI, 4.33 ± 1.10 versus 2.83 ± .33 (P < .05) versus 2.85 ± .37 cm/m(2) (P < .05), respectively. All aortic diameters were significantly larger in the OI group than in the control group, as they were in type III compared with types I and IV; 10.1% mild aortic regurgitation (AR), 10.1% moderate AR, and 7.1% moderate mitral regurgitation were registered in the OI group. CONCLUSIONS: Increased LVIDd, LV mass, mitral regurgitation, and AR were found in adult patients with OI compared with the control group. The changes in LV and dilatation of aorta seemed to be more pronounced in patients with type III compared with types I and IV OI.
