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Brittle bone disease, or osteogenesis imperfecta (OI), breaks collagen that holds body parts strong, including heart structures like valves and big arteries. Adults with OI face higher odds of heart failure and leaky valves; however, the data related to children is limited. In a study published in the International Journal of Cardiology, the researchers checked 78 children aged 1 to 18 years with OI through standard heart tracings and echoes by pediatric heart experts. They scored heart sizes against kid norms and compared mild, moderate, and severe OI types. No one needed heart drugs or had dangerous rhythms. 
Simple Birth Defects Top the List
Congenital heart issues appeared in 13% of patients, mostly small holes like atrial septal defects or patent ductus arteriosus that often close alone or with easy fixes. These showed across OI levels but stayed mild.
Leaks and Stretches Hit Worse Cases
Mild aortic valve leaks occurred in 7.3% and mitral leaks in 8.7%, mostly in moderate to severe OI. Aortic roots stretched bigger than normal in 8.7%, again tied to rougher disease. Root and valve ring sizes grew with OI grade, showing collagen loss hits hard there.
Strong Pump Across All Groups
Left heart squeezing and relaxing stayed normal in everyone, proving young OI hearts pump fine despite weak building blocks. No systolic or diastolic trouble emerged.
Screening Plan for Transition Time
Mild cases need little watch, but moderate to severe children gain from echo checks before adult doctors take over. Catch leaks or stretches early to plan fixes.
Guide for Bone and Heart Teams
Pediatricians, geneticists, and cardiologists see OI hearts stay tough in childhood but flag valve and artery risks by teen years. Routine echoes fit smooth into care for sicker types.

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Key highlights
  • Congenital heart defects occur in 13% of 78 children with OI, most commonly ASD and PDA.
  • Mild aortic regurgitation affects 7.3% and mitral regurgitation 8.7%, mainly in moderate to severe OI.
  • Aortic root dilation appears in 8.7% of patients and correlates with disease severity.
  • Left ventricular systolic and diastolic functions remain normal in all pediatric OI patients.
  • Echocardiographic screening is recommended before transition to adult care in moderate to severe OI cases.
Source

Stasek S, Kronenberger J, Germund-Maiwald I, et al. Cardiac manifestations in children with osteogenesis imperfecta: A single-center observational study. Int J Cardiol. 2025 Sep 22;443:133922. doi: https://doi.org/10.1016/j.ijcard.2025.133922 

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Osteogenesis Imperfecta and Valvular Heart Disease
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Study of 78 children with osteogenesis imperfecta finds 13% have simple heart defects and mild valve leaks mainly in severe cases, but normal pump function supports screening before adult care. 

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