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Echocardiographic study in children with osteogenesis imperfecta

Published online by Cambridge University Press:  14 August 2020

Bruna S. Pinheiro ,
Patrícia M. Barrios ,
Liliane T. Souza  and
Têmis M. Félix Open the ORCID record for Têmis M. Félix [Opens in a new window]
Bruna S. Pinheiro
Affiliation:
Graduate Program in Child and Adolescent Health, Federal University of Rio Grande do Sul, Porto Alegre, Brazil
Patrícia M. Barrios
Affiliation:
Cardiology Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil
Liliane T. Souza
Affiliation:
Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
Têmis M. Félix*
Affiliation:
Graduate Program in Child and Adolescent Health, Federal University of Rio Grande do Sul, Porto Alegre, Brazil Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil
*
Author for correspondence: Têmis Maria Félix, Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, RS90035-903, Brazil. Tel: +55 51 33598011; Fax: +55 51 33598010. E-mail: tfelix@hcpa.edu.br
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Abstract

Background:

Osteogenesis imperfecta is a collagen type I bone disorder. Recently, extra-skeletal manifestations have been described, including many cardiovascular alterations. This study aims to report echocardiogram study in children with osteogenesis imperfecta compared to a control group.

Methods:

A cross-sectional comparative study took place in the Reference Center for Treatment of Osteogenesis Imperfecta in Southern Brazil. Fifty-four patients with osteogenesis imperfecta were paired with 54 controls, based on body surface area, and echocardiogram findings were compared.

Results:

All cases were asymptomatic for cardiac manifestations. The case group presented significant larger values in aortic diameter, left atrium diameter, left ventricule end-diastolic diameter, left ventricule end-systolic diameter, and right ventricle diameter compared with the control group. The analysis considering the severity of osteogenesis imperfecta shows that in mild osteogenesis imperfecta, the aortic diameter (p < 0.001), left atrium diameter (p = 0.002), left ventricule end-diastolic diameter (p = 0.001), left ventricule end-systolic diameter (p = 0.026), and right ventricle diameter (p < 0.001) were significantly larger than in the control group. Patients with moderate/severe osteogenesis imperfecta had similar results, with aortic diameter (p < 0.001), left atrium diameter (p < 0.001), left ventricule end-diastolic diameter (p = 0.013), and left ventricule end-systolic diameter (0.004) statistically larger than controls. Twenty-six (48.1%) of the cases had physiological tricuspid regurgitation and in controls this finding was observed in eight (14.8%) (p < 0.001).

Conclusion:

Children with osteogenesis imperfecta presented cardiac function within the normal pattern, but dimensions of left ventricular dimensions were increased compared to the ones of the controls.

Keywords

Osteogenesis imperfectacardiovascular abnormalitiesechocardiographychildren
Type
Original Article
Information
Cardiology in the Young , Volume 30 , Issue 10 , October 2020 , pp. 1490 - 1495
Copyright
© The Author(s), 2020. Published by Cambridge University Press

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