Prospective Observational Cohort Study of Cardiac Structure and Function in Children and Adults With Osteogenesis Imperfecta

Summary

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.

Eligibility

Inclusion Criteria:

* 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

Exclusion Criteria:

* Acute upper and/or lower respiratory tract infections at the time of assessment
* Cognitive impairment affecting cooperation and the performance of examinations

Conditions3

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