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Osteogenesis imperfecta in childhood: cardiac and renal manifestations
U Vetter1, B Maierhofer, M Müller
1Kinderklinik, Universität Ulm, Federal Republic of Germany.
Insights
Osteogenesis imperfecta (OI) in children can cause serious heart issues like aortic stenosis and kidney problems such as stones. Severe OI cases show cardiac abnormalities and thickening of heart walls, highlighting extraskeletal manifestations.
Area of Science:
- Pediatric Cardiology
- Pediatric Nephrology
- Genetics
Background:
- Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by brittle bones.
- Extraskeletal manifestations of OI, particularly cardiovascular and renal, are not fully understood in pediatric populations.
Purpose of the Study:
- To investigate the prevalence of cardiac and renal abnormalities in children with osteogenesis imperfecta.
- To identify potential correlations between OI severity and extraskeletal findings.
Main Methods:
- Retrospective analysis of 58 children (aged 1-16 years) diagnosed with various forms of OI.
- Echocardiographic evaluation for cardiac structure and function.
- Renal imaging to detect nephrolithiasis and calcifications.
Main Results:
- Congenital cardiac malformations (e.g., aortic stenosis, ASD II, Tetralogy of Fallot) were found in 4 children.
- Holosystolic mitral valve prolapse and regurgitation occurred in 2 additional children.
- Severe OI (Sillence type III) correlated with aortic root dilatation, increased septal and posterior left ventricular wall thickness, and kidney stones/papillary calcifications in 4 children.
Conclusions:
- Cardiovascular abnormalities, including congenital defects and structural changes, are significant in children with OI.
- Nephrolithiasis and renal papillary calcifications represent important extraskeletal manifestations in pediatric OI.
- Early detection and monitoring of cardiac and renal systems are crucial for managing children with OI.
Abstract:
We examined 58 children aged 1-16 years with various forms of osteogenesis imperfecta (OI). Congenital cardiac malformations were diagnosed in 4 children (valvular aortic stenosis, 2 with atrial septal defect II, Fallot Tetralogy). Two additional children developed holosystolic mitral valve prolapse and regurgitation. Children suffering from a severe clinical course (type III according to the Sillence classification) showed aortic root dilatation (28%) and increased septal (40%) and posterior left ventricular wall thickening (68%) on initial evaluation. All three parameters were significantly correlated to body surface area. Kidney stones and renal papillary calcifications were detected in 4 children. Cardiovascular abnormalities and nephrolithiasis may be important extraskeletal manifestations of childhood OI.