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
p
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
.