This prospective observational investigation will examine the incidence and progression of cardiologic findings in individuals with OI across different age groups. Cardiopulmonary complications are recognized as major contributors to morbidity and mortality in adults with OI, although life expectancy has significantly improved in recent years due to medical advancements.
By systematically evaluating cardiovascular involvement in this population, the study aims to generate clinically relevant evidence to inform early cardiologic screening strategies and support the development of harmonized and targeted management approaches, ultimately improving clinical practice and the quality of life of individuals living with OI.
Diagnosis of OI according to the modified Sillence classification (Mortier et al., 2019)
All subjects with OI who attend genetic consultations at the clinic affiliated with the Rare Skeletal Diseases Unit of the IRCCS Rizzoli Orthopaedic Institute (IOR)
Willingness to undergo clinical and instrumental assessments at the IOR
Acute upper and/or lower respiratory tract infections at the time of assessment
Cognitive impairment affecting cooperation and the performance of examinations
Patients affected by Osteogenesis Imperfecta
Cohort
Prospective
Imaging evaluation, Echocardiography
Other interventionSince this is an observational study, researchers collect general information from instrumental investigations and functional assessments carried out as part of normal clinical practice
Cardiac abnormalities
The incidence of structural and functional cardiac abnormalities in individuals with osteogenesis imperfecta.
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