ABSTRACT
BACKGROUND: Osteogenesis imperfecta (OI), also known as brittle bone disease or Lobstein syndrome, is a congenital bone disorder characterized by brittle bones that are prone to fracture. People with OI are born with defective connective tissue in most cases secondary to a deficiency of type-I collagen, which represents approximately 75% of total collagen in the adult myocardium. The purpose of our study was to assess the prevalence of cardiomyopathy, electrocardiogram (ECG) abnormalities, and cardiovascular symptoms among patients with OI. METHODS: We studied 99 adults with OI from the national OI registry in Norway. Patients were divided into type I, III, and IV, and 52 control subjects. History and physical examination, ECG, and echocardiographic parameters of left ventricular (LV) and right ventricular (RV) systolic and diastolic function were obtained. RESULTS: ECG abnormalities and cardiac symptoms were more common among patients with OI. RV and LV systolic peak velocity were significantly lower and diastolic mitral tricuspid valve wave and early diastolic tissue Doppler velocity ratio increased in the OI group compared with the control subjects; 5.7 ± 1.2 vs 6.3 ± 1.2 cm/s (P < 0.05) and 8 ± 1.8 vs 9.5 ± 1.4 cm/s (P < 0.05) and 9.8 ± 2.6 vs 7.4 ± 2.0 (P < 0.05) and 8.6 ± 3.3 vs 6.1 ± 1.4, respectively. In multivariate analysis OI was found to be an independent risk factor for RV systolic and diastolic dysfunction. CONCLUSIONS: Cardiac symptoms and ECG changes are common among patients with OI. Our study findings suggest RV and LV systolic and diastolic function to be impaired in patients with OI compared with normal individuals. In multivariate analysis, however, OI was an independent predictor only of reduced RV systolic and diastolic function.
Subject(s)
Cardiovascular Diseases/epidemiology , Heart Ventricles/physiopathology , Osteogenesis Imperfecta/complications , Ventricular Function, Left/physiology , Ventricular Function, Right/physiology , Adult , Cardiovascular Diseases/diagnosis , Cardiovascular Diseases/physiopathology , Echocardiography , Echocardiography, Doppler , Female , Heart Ventricles/diagnostic imaging , Humans , Male , Middle Aged , Norway/epidemiology , Prevalence , Retrospective StudiesABSTRACT
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/physiologyABSTRACT
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.
