Assessment of cardiac function by speckle tracking echocardiography in children with osteogenesis imperfecta

Saeed Elseedy1, Shimaa Elnemr2, Shaimaa Badreldeen2

  • 1Ministry of Health and Population, Tanta, Egypt.

Pediatric Research
|November 19, 2025
PubMed

Insights

Children with osteogenesis imperfecta (OI) exhibit subclinical cardiac dysfunction, including impaired left and right ventricular function. These abnormalities correlate with disease severity, underscoring the need for regular echocardiographic monitoring.

Area of Science:

  • Pediatric Cardiology
  • Genetic Disorders
  • Echocardiography

Background:

  • Osteogenesis imperfecta (OI) is a genetic disorder affecting collagen 1, leading to skeletal fragility and potential extra-skeletal complications.
  • Cardiovascular involvement, including aortic dilatation, is recognized in adult OI patients.
  • Pediatric assessment of ventricular function in OI using advanced echocardiography remains understudied.

Purpose of the Study:

  • To evaluate subclinical left ventricular (LV) and right ventricular (RV) dysfunction in children with OI.
  • To utilize two-dimensional speckle tracking echocardiography (2D-STE) for detailed cardiac function assessment.
  • To correlate cardiac abnormalities with the clinical severity of osteogenesis imperfecta.

Main Methods:

  • A cross-sectional study involving 30 children with OI and 30 age- and sex-matched healthy controls.
  • Conventional echocardiography, tissue Doppler imaging, and 2D-STE were performed on all participants.
  • Clinical severity of OI was assessed and correlated with echocardiographic parameters.

Main Results:

  • Children with OI showed significantly lower height, weight, and hemoglobin compared to controls.
  • Larger aortic diameter, left atrial diameter, LV dimensions, right ventricular diameter, and mean pulmonary artery diameter were observed in the OI group.
  • Reduced LV and RV systolic function (2D-GLS, S wave) and diastolic function (E/é) were significantly lower in children with OI.
  • Clinical severity correlated positively with cardiac chamber dimensions and negatively with ventricular strain parameters.

Conclusions:

  • Children with osteogenesis imperfecta present with subclinical left and right ventricular systolic and diastolic dysfunction.
  • These cardiac abnormalities are associated with the clinical severity of OI.
  • Regular echocardiographic follow-up is recommended for pediatric patients with OI to monitor cardiac health.
Abstract