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Osteogenesis imperfecta (OI) type I is a hereditary disorder of connective tissue (HDCT) characterized by blue or gray sclerae, variable short stature, dentinogenesis imperfecta, hearing loss, and recurrent fractures from infancy. We present four examples of OI type I complicated by valvular heart disease and associated with tissue fragility. The diagnosis of a type I collagen disorder was confirmed by abnormal COL1A1 or COL1A2 gene sequencing. One patient was investigated with electrophoresis of collagens from cultured skin fibroblasts, showing structurally abnormal collagen type I, skin biopsy showed unusual histology and abnormal collagen fibril ultra-structure at electron microscopy. The combined clinical, surgical, histological, ultra-structural, and molecular genetic data suggest the type I collagen defect as contributory to cardiac valvular disease. The degree of tissue fragility experienced at cardiac surgery in these individuals, also reported in a small number of similar case reports, suggests that patients with OI type I need careful pre-operative assessment and consideration of the risks and benefits of cardiac surgery.

Original publication

DOI

10.1002/ajmg.a.36285

Type

Journal article

Journal

Am J Med Genet A

Publication Date

02/2014

Volume

164A

Pages

386 - 391

Keywords

mitral valve, osteogenesis imperfecta, tissue fragility, Adult, Bone and Bones, Child, Collagen Type I, Female, Heart Valve Diseases, Heart Ventricles, Humans, Joint Instability, Male, Middle Aged, Mutation, Osteogenesis Imperfecta, Pedigree, Sclera, Skin