Abstract Body (Do not enter title and authors here): Background: Osteogenesis imperfecta (OI) is a congenital bone fragility disorder, in which 90% of patients have a deficiency or poor formation of type I collagen. Cardiovascular complications, including valvular disease and vascular aneurysms, are sometimes comorbid with this disease. However, the prevalence and detailed characteristics of these complications are not fully understood.
Methods: Thirty-nine adult Japanese patients who had been diagnosed with OI before the age of 18 were recruited for this study. Participants underwent echocardiography, brain magnetic resonance imaging, and magnetic resonance angiography at a single institution. We compared the prevalence of cardiovascular comorbidities with that of the healthy Japanese population using direct age-standardization and a one-sample binomial test. Patients were classified as having mild, moderate, or severe based on their clinical condition.
Results: The average age was 45.8 ± 10.4 years, and 26 patients (66.7%) were female. None of the patients had been previously hospitalized for cardiovascular events. The OI severity was mild in 11 (28.2%), moderate in 11 (28.2%), and severe in 17 (43.6%) patients, respectively. Six patients (15.4%) had cerebral aneurysms (mild OI: 1; moderate OI: 2; severe OI: 3), and the prevalence was significantly higher than the previously reported data for the Japanese healthy population after direct age-standardization (2.5%) (p < 0.001). One patient had ≥ moderate mitral regurgitation (severe OI: 1), and 2 had ≥ moderate aortic regurgitation (moderate OI: 1, severe OI: 1). The prevalence of valvular heart disease was 7.7%, which was significantly higher than the previously reported data for the Japanese healthy population after direct age-standardization (2.0%) (p < 0.005). No patients had aortic dilatation greater than 45 mm.
Conclusion: Adult patients with OI have a high prevalence of cardiovascular complications, which are often subclinical. To prevent life-threatening events, patients with OI should undergo routine cardiovascular testing. This proactive approach allows early detection and management of silent complications before they become symptomatic or life-threatening.