Structural and functional changes in the heart of adult patients with osteogenesis imperfecta: Case-control study

Med Clin (Barc). 2018 Nov 21;151(10):397-399. doi: 10.1016/j.medcli.2018.02.010. Epub 2018 Apr 14.
[Article in English, Spanish]

Abstract

Introduction and objectives: Osteogenesis imperfecta (OI) is a connective tissue disease characterised by an anomalous synthesis of type i collagen. Little is known about the cardiovascular affectation suffered by these patients. The most frequently described are valvular dysfunction and dilatation of the aorta. We wanted to analyse the structural and functional changes of the heart in adult patients with OI.

Methods: We prospectively studied 82 patients with OI and compared them with 60 healthy subjects matched for age and sex. All of them underwent an echocardiographic study.

Results: We found no differences in the incidence of valvulopathies compared to the control group. Our patients had a larger left atrium and larger left ventricle (LV) diameters adjusted for body surface area. Aortic root was significantly higher. LV ejection fraction in patients with OI was lower and they had higher pulmonary artery systolic pressure.

Conclusions: Patients with OI suffer structural and functional changes in the heart. A follow-up is recommended to observe the evolution of these changes.

Keywords: Aortic root; Collagen; Colágeno; Echocardiography; Ecocardiografía; Osteogenesis imperfecta; Osteogénesis imperfecta; Raíz aórtica; Valvulopathy; Valvulopatías.

MeSH terms

  • Adolescent
  • Adult
  • Aorta / diagnostic imaging
  • Aorta / pathology*
  • Body Surface Area
  • Case-Control Studies
  • Echocardiography
  • Female
  • Heart / diagnostic imaging
  • Humans
  • Hypertrophy, Left Ventricular / diagnostic imaging
  • Hypertrophy, Left Ventricular / pathology*
  • Male
  • Myocardium / pathology*
  • Osteogenesis Imperfecta / complications
  • Osteogenesis Imperfecta / pathology*
  • Osteogenesis Imperfecta / physiopathology
  • Prospective Studies
  • Stroke Volume
  • Ventricular Function, Left
  • Young Adult