Osteogenesis imperfecta in childhood: cardiac and renal manifestations

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.

Echocardiographic Evidence of Early Diastolic Dysfunction in Asymptomatic Children with Osteogenesis Imperfecta

“…This has been similarly reported in both adult and paediatric OI patients. 7,13 The incidence of mitral valve prolapse in OI is about 3-8%; 6,7 however, none of the patients in the current study had mitral valve prolapse or aortic valve regurgitation. The studied subjects had normal systolic cardiac function and IVRT.…”

“…[3][4][5] While a few studies have described cardiovascular involvement among adults with OI, there is very little data available for paediatric patients. 6,7 To the best of the authors' knowledge, this is the first study assessing cardiovascular abnormalities, particularly systolic and diastolic function, in paediatric patients with OI using both conventional and TDE techniques.…”

Heart disease in patients with osteogenesis imperfecta — A systematic review

“…The participants were lying supine or in a left decubitus position. In 1989, Vetter et al [74] used 2D echocardiography, taking special care to visualize the mitral and aortic valves.…”

“…The participants had been referred to one of three clinical centres for genetic counselling and were identified by two of the investigators [75]. Vetter et al [74] included 58 children aged 1-16 years and followed them for an unspecified number of years. Eighteen children (mean age 9 [range 2-16]) were classified as OI type I, 25 children as OI type III (mean age 9 [range 1-15]) and 15 as "unclassified" (mean age 6 [range 1-10]).…”

“…One additional study was found through the reference lists of the included articles. Thus, a total of 68 studies were included in this review, comprising 51 case reports of OI , 8 small OI case series (containing less than 10 patients) [65][66][67][68][69][70][71][72], 4 large OI case series (containing 10 or more patients) [13,[73][74][75] and 5 cross-sectional comparative studies including controls [76][77][78][79][80].…”