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Echocardiographic phenotype in osteogenesis imperfecta varies with disease severity
Eric T Rush1, Ling Li2, Jennifer L Goodwin1
1Department of Pediatrics and Internal Medicine, Munroe-Meyer Institute for Genetics and Rehabilitation, University of Nebraska Medical Center, Omaha, Nebraska, USA.
Insights
Children with osteogenesis imperfecta (OI) show cardiovascular abnormalities, particularly aortic dilation. More severe OI types (3/4) present with greater aortic enlargement compared to milder forms.
Area of Science:
- Pediatric Cardiology
- Genetics
- Skeletal Dysplasias
Background:
- Osteogenesis imperfecta (OI) is a group of genetic disorders characterized by bone fragility.
- Cardiovascular abnormalities are a potential complication of OI, but their prevalence and characteristics in childhood are not fully understood.
Purpose of the Study:
- To investigate the presence and nature of cardiovascular abnormalities in children diagnosed with osteogenesis imperfecta (OI).
- To compare cardiovascular measurements between children with OI and healthy controls.
Main Methods:
- Prospective study of 200 children (100 with OI, 100 controls).
- Transthoracic echocardiography was used to assess aortic and left ventricular (LV) dimensions.
- OI patients were classified using the modified phenotypical Sillence classification.
Main Results:
- Children with OI exhibited increased Z-scores for aortic annulus, sinus, sinotubular junction, and ascending aorta.
- Aortic dimensions were significantly larger in OI types 3/4 compared to controls.
- Left ventricular dimensions were larger in OI type 1, but aortic dimensions did not differ significantly from controls in this group.
Conclusions:
- Cardiovascular effects, primarily aortic dilation, are detectable in childhood OI, even in milder forms.
- More severe skeletal pathology in OI (types 3/4) correlates with more significant aortic dilation.
- Differences in aortic and LV dilation between OI types 1 and 3/4 may relate to underlying biochemical mechanisms.
Background And Objectives:
Our purpose was to investigate cardiovascular abnormalities in children with osteogenesis imperfecta (OI).
Methods:
Two hundred children (100 OI, 100 matched volunteers) were prospectively studied. Aortic and left ventricular (LV) measurements were performed using transthoracic echocardiography. Patients were typed according to modified phenotypical Sillence classification as published in the Nosology and Classification of Genetic Skeletal disorders: 2015 Revision.
Results:
Patients (age 9.6±4.1 years, body surface area 1.08±0.47 m2) consisted of OI types: 1 (n=44), 3/4 (n=54), 4 (n=1) and 15 (n=1). The 95% CIs for Z-score of aortic annulus, sinus, sinotubular junction and ascending aorta for OI were 0.43 to 0.73, 0.56 to 0.94, 0.28 to 0.70 and 0.78 to 1.24, respectively. In type 1, sinus, sinotubular junction and ascending aorta diameters were 2.29 cm, 1.81 cm and 2.05 cm, respectively, which did not differ compared with controls. The LV dimensions were larger in type 1. In type 3/4, aortic dimensions were larger than controls at all levels: annulus (1.61 vs 1.50 cm, p<0.001), sinus (2.19 vs 2.05 cm, p=0.001), sinotubular junction (1.77 vs 1.64 cm, p<0.001) and ascending aorta (1.98 vs 1.82 cm, p<0.001), but LV dimensions were normal.
Conclusions:
Cardiovascular effects are identifiable in childhood even in mild forms of OI. Aortic dilation was the predominant finding, while valvular abnormalities were infrequent. Patients with more severe skeletal pathology (types 3/4) have more significant findings. Aortic and LV dilation in type 1 vs type 3/4 appears to differ based on the biochemical mechanism of disease.
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