Cardiovascular complications in adults with clinically diagnosed osteogenesis imperfecta: A cross-sectional study with echocardiography and magnetic resonance imaging.
Abstract
Background
Osteogenesis imperfecta (OI) is a congenital bone fragility disorder, in which 90% of patients have abnormalities in type 1 collagen. Cardiovascular complications, including valvular heart disease and vascular aneurysms, are reportedly comorbid with this disease.
Methods
Forty-three adult Japanese patients clinically diagnosed with OI were recruited. Participants underwent echocardiography, brain magnetic resonance imaging (MRI), and magnetic resonance angiography. We compared the prevalence of cardiovascular comorbidities with that of a healthy Japanese population using direct age-standardization and a one-sample binomial test.
Results
The median age was 42.5 (IQR 37.4-53.5) years. OI severity was mild in 11, moderate in 11, and severe in 21 patients. Two patients had ⩾ moderate aortic regurgitation (moderate OI: 1; severe OI: 1), one patient had severe mitral regurgitation (moderate OI: 1), and another had previously received valvuloplasty for mitral regurgitation (mild OI: 1). The prevalence of valvular heart disease (9.3%) was significantly higher than that of the healthy Japanese population (0.8%) (p < 0.001). Five patients (11.6%) had unruptured intracranial aneurysms (UIAs) (mild OI: 2; severe OI: 3), and the prevalence was significantly higher than that of the healthy Japanese population (2.5%) (p < 0.005). Notably, two patients presented with both valvular heart disease and a UIA. Additionally, 27 patients (62.8%) had tortuosity in the intracranial arteries, and seven patients (16.3%) had significant cortical atrophy.
Conclusion
This study revealed an increased prevalence of valvular heart disease, UIAs, and possibly intracranial arterial tortuosity and cortical atrophy among adults with clinically diagnosed OI. Routine echocardiography, and brain MRI and MRA are recommended regardless of disease severity. TRIAL REGISTRATION UMIN-CTR; UMIN000041901.