< Terug naar vorige pagina

Publicatie

Aortic aneurysm/dissection and osteogenesis imperfecta

Tijdschriftbijdrage - Tijdschriftartikel

Ondertitel:four new families and review of the literature
Osteogenesis imperfecta (OI) is the commonest form of heritable bone fragility. It is mainly characterized by fractures, hearing loss and dentinogenesis imperfecta. OI patients are at increased risk of cardiovascular disease of variable severity. Aortic aneurysm/dissection is one of the rarer but potentially serious cardiovascular complications of OI. So far, only six patients with aortic dissection and OI have been reported. As such, present OI diagnostic guidelines do not recommend systematic screening of patients for aortopathy. Here, we report on the clinical and molecular characteristics of three new OI patients and one additional patient with a first degree relative who presented with aortic dissection and/or aneurysm surgery. This observation further opens up the discussion on the need for and extent of cardiovascular screening in adult patients with OI.
Tijdschrift: BONE
ISSN: 8756-3282
Volume: 121
Pagina's: 191 - 195
Jaar van publicatie:2019