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Egyptian Journal of Medical Human Genetics [The]. 2016; 17 (2): 197-200
in English | IMEMR | ID: emr-180238

ABSTRACT

Background: Osteogenesis imperfecta is a genetic disorder of bones, which has different types. Type III is characterized by recurrent fractures, progressive bone deformities. Cardiac manifestation is one of the important extraskeletal manifestations


Aim of the study: To asses the ECHO cardiographic findings in Egyptian osteogenesis imperfecta patients type III [OI III]. Patients and methods: This retrospective study included 35 OI III patients. Their age ranged from 2 months to 18 years with a mean of 6.34 +/- 4.85. Standard echocardiography was performed, and heart valves were examined. The dimensions of the left ventricle, and ejection fraction were measured


Results: Abnormal ECHO findings were found in 8 patients [22.9%]. Atrial septal defect [ASD], and patent ductus arteriosus [PDA] were the commonest cardiac findings with 5.7% each. Trivial tricuspid regurge was found in 9 patients, this was considered normal finding. There was no significant difference in ECHO findings between males and females with OI III


Conclusion and recommendation: The presence of cardiac abnormalities is documented in OI patients whether congenital or valvular, and so ECHO cardiography should be routine in all patients with OI


Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Heart Defects, Congenital/diagnostic imaging , Heart Ventricles/pathology , Ventricular Function , Echocardiography , Retrospective Studies , Cohort Effect
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