title: Cardiovascular involvement in children with osteogenesis imperfecta.
abstract: 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.
  
  
  RESULTS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Department of Pediatrics, Namazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Hamdollah
authors.initials: H
authors.lastname: Karamifar
authors.affiliation: Department of Pediatrics, Namazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Homa
authors.initials: H
authors.lastname: Ilkhanipoor
authors.affiliation: Department of Pediatrics, Namazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Gholamhossein
authors.initials: G
authors.lastname: Ajami
authors.affiliation: Department of Pediatrics, Namazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Zohreh
authors.initials: Z
authors.lastname: Karamizadeh
authors.affiliation: Department of Pediatrics, Namazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Gholamhossein
authors.initials: G
authors.lastname: Amirhakimi
authors.affiliation: Department of Pediatrics, Namazee Hospital, Shiraz University of Medical Sciences, Shiraz, Iran.
authors.forename: Ali-Mohammad
authors.initials: AM
authors.lastname: Shakiba
keywords: Cardiovascular Abnormalities; Echocardiography; Heart Valve Diseases; Osteogenesis Imperfecta