Valvular Heart Disease Involvement In Osteogenesis Imperfecta: A Report Of Case And Review Of The Literature

Osteogenesis imperfecta(OI) is categorized in a group of heritable disorders of connective tissue that includes Ehlers-Danlos syndrome,Marfan syndrome,Hurler's syndrome;Osteogenesis imperfecta is a rare,heritable disorder of connective tissue. Aortic and mitral valvular insufficiencies in patients With osteogenesis imperfecta result from an underlying defect in connective tissue formation.There is myxomatous degeneration of heart valves,affecting the aortic,mitral,and right-sided valves in descending frequency.We reported a case of valvular heart disease involvement in osteogenesis imperfecta in a 63-year-old man.An echocardiogram showed further dilatation of aortic root,degeneration of aortic valve with aortic moderately regurgitation.