Endocrine Abstracts

Background: Osteogenesis imperfecta (OI) is a few frequent disease with abnormal synthesis of type 1 collagen. That affects skeletal but also extra-skeletal tissues. Aortic root (AR) dilatation and valvular dysfunction have been described. Other studies, to estimate the size of the AR, index it by the body surface area (BSA), however, although these patients are shorter their internal organs have a relatively normal growth, so we could find overestimated AR values. Therefore, we propose to use the size of the left ventricle telediastolic diameter (LVDD) to calculate the indexed AR. We try to evaluate the incidence of cardiac involvement in patients with OI in comparison with an age-matched control group.

Patients and methods: We enrolled 26 patients with OI and compared them with 25 healthy people. In the control group we excluded patients with coronary disease or systemic chronic diseases. One patient of the OI group was excluded because of the incidental diagnosis of hypertrophic cardiomiopathy. A transtoracic ultrasound was performed in all patients. Quantitative variables were compared with Student’s t-test and qualitative variables with the χ² test. A P value of <0.05 was considered relevant.

Results: The incidence of valvulopathy was similar in both groups. The dimensions of the AR, left atrium and LVDD when indexed by BSA were significantly larger in OI patients. However there was a significantly difference in the AR/LVDD ratio independent of the BSA, that was larger in the patients with OI (Table 1).

Conclusions: The incidence of valvular disease in osteogeneis imperfecta is similar to that of normal population. Indexed AR is larger in OI patients related with LVDD.