Korean J Med.
1999 Feb;56(2):209-214.
A Case of Osteogenesis Imperfecta associated with Aortic Regurgitation
- Affiliations
-
- 1Department of Internal Medicine, Sejong Hospital, Buchon, Korea.
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.