A Case of Osteogenesis Imperfecta associated with Aortic Regurgitation / 대한내과학회지

ABSTRACT

Osteogenesis imperfecta is one of the groups of hereditary disorders of connective tissue which includes the Ehlers-Danlos syndrome, the Marfan syndrome, pseudoxanthoma elasticum, and Hurler syndrome. While cardiovascular involvement is associated with each of these disorders, it is least common in osteogenesis imperfecta and is overshadowed by the bony, ocular, otologic, cutaneous, and dental manifestations that are characteristic of the disorder. In evaluating patients with osteogenesis imperfecta, careful attention should be paid to cardiovascular findings and if valvular lesions are noted, patients should be instructed regarding the need for antibiotic prophylaxis for dental and surgical procedures. We report a case of osteogenesis imperfecta associated with aortic regurgitation.