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Cardiovascular involvement in children with osteogenesis imperfecta
Hamdollah Karamifar1, Homa Ilkhanipoor1, Gholamhossein Ajami1
1Department of Pediatrics, Namazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
Insights
Children with osteogenesis imperfecta show higher rates of aortic root dilation and valvular heart disease. Cardiovascular screening is recommended for early detection and management of these cardiac issues.
Area of Science:
- Cardiology
- Genetics
- Pediatrics
Background:
- Osteogenesis imperfecta (OI) is a genetic disorder affecting type I procollagen genes.
- Cardiac involvement is an extra-skeletal manifestation of OI, but its prevalence in children is not well-established.
- Early identification of cardiovascular abnormalities in pediatric OI patients is crucial.
Purpose of the Study:
- To determine the prevalence of cardiovascular abnormalities in children diagnosed with osteogenesis imperfecta.
- To compare cardiac dimensions and valve function between children with OI and a healthy control group.
Main Methods:
- A cohort of 24 children with OI was compared to 24 age- and sex-matched healthy children.
- Standard echocardiography was performed to assess cardiac structure and function.
- Measurements included left ventricle dimensions, aorta annulus, sinotubular junction, and ascending/descending aorta, with adjustments for body surface area.
Main Results:
- Children with OI exhibited significantly larger aortic annulus, sinotubular junction, and ascending aorta dimensions after body surface area correction.
- Prevalence of valvular heart disease was higher in the OI group: 8.3% with aortic insufficiency and 20% with tricuspid regurgitation.
- Abnormal Z scores for aortic root dimensions were observed in several OI patients, indicating dilation.
Conclusions:
- Children with osteogenesis imperfecta have an increased prevalence of aortic root dilation and valvular heart disease.
- Routine cardiovascular assessment is recommended for pediatric patients with osteogenesis imperfecta to monitor for cardiac complications.
Objective:
Osteogenesis imperfecta is a hereditary disease resulting from mutation in type I procollagen genes. One of the extra skeletal manifestations of this disease is cardiac involvement. The prevalence of cardiac involvement is still unknown in the children with osteogenesis imperfecta. The present study aimed to investigate the prevalence of cardiovascular abnormalities in these patients.
Methods:
24 children with osteogenesis imperfecta and 24 normal children who were matched with the patients regarding sex and age were studied. In both groups, standard echocardiography was performed, and heart valves were investigated. Dimensions of left ventricle, aorta annulus, sinotubular junction, ascending and descending aorta were measured and compared between the two groups.
Findings:
The results revealed no significant difference between the two groups regarding age, sex, ejection fraction, shortening fraction, mean of aorta annulus, sinotubular junction, ascending and descending aorta, but after correction based on the body surface area, dimensions of aorta annulus, sinotubular junction, ascending and descending aorta in the patients were significantly higher than those in the control group (P<0.05). Two (8.3%) patients had aortic insufficiency and five (20%) patients had tricuspid regurgitation, three of whom had gradient >25 mmHg and one patient had pulmonary insufficiency with indirect evidence of pulmonary hypertension. According to Z scores of aorta annulus, sinotubular junction and ascending aorta, 5, 3, and 1 out of 24 patients had Z scores >2 respectively.
Conclusion:
The prevalence of valvular heart diseases and aortic root dilation was higher in children with osteogenesis imperfecta. In conclusion, cardiovascular investigation is recommended in these children.
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