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.