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Echocardiographic abnormalities and joint hypermobility in Chinese patients with Osteogenesis imperfecta

Yazhao Mei1, Yunyi Jiang1, Li Shen2

  • 1Shanghai Clinical Research Center of Bone Disease, Department of Osteoporosis and Bone Disease, Shanghai Sixth People's Hospital Affiliated to Shanghai Jiao Tong University School of Medicine, 200233, Shanghai, China.

Orphanet Journal of Rare Diseases
|March 13, 2024
PubMed

Insights

Osteogenesis imperfecta (OI) patients, especially juveniles, exhibit more joint hypermobility and cardiac abnormalities like mild valvular regurgitation. Early echocardiography is recommended for OI patients due to potential type I collagen impairment.

Area of Science:

  • Cardiology
  • Genetics
  • Rheumatology

Background:

  • Limited data exists on echocardiographic abnormalities and joint hypermobility in Chinese osteogenesis imperfecta (OI) patients.
  • This study aimed to investigate these characteristics and their correlation in this population.

Purpose of the Study:

  • To characterize echocardiographic findings and joint hypermobility in Chinese OI patients.
  • To determine the prevalence and correlation of these conditions.
  • To compare findings between pediatric and adult OI patients and healthy controls.

Main Methods:

  • A cross-sectional comparative study involving 48 OI patients (pediatric and adult) and 129 healthy controls.
  • Transthoracic echocardiography was performed, with parameters indexed for body surface area (BSA).
  • The Beighton score assessed joint hypermobility.

Main Results:

  • Mild valvular regurgitation (mitral, tricuspid, aortic) was common in OI patients.
  • OI was a significant predictor of left atrium diameter and fractional shortening in juveniles, and left atrium diameter and left ventricular mass in adults.
  • Joint hypermobility was more prevalent (56%) and severe in OI juveniles compared to adults (20%), correlating with echocardiographic abnormalities in juveniles.

Conclusions:

  • Mild valvular regurgitation is the primary cardiac abnormality in OI patients.
  • OI juveniles present with more prevalent and severe joint hypermobility than adults.
  • Early baseline echocardiography is crucial for OI patients, suggesting significant type I collagen impairment.
Abstract

Keywords:
EchocardiographyJoint hypermobilityOsteogenesis imperfectaType I collagen

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