Bending of the aortic valvar leaflet causing severe aortic regurgitation in a patient with osteogenesis imperfecta

Fumitaka Soga, Tomofumi Takaya, Shumpei Mori, Tatsuya Nishii, Ken-ichi Hirata
2016 European Heart Journal-Cardiovascular Imaging  
A 47-year-old woman with osteogenesis imperfecta was admitted to our institution for the preoperative evaluation of severe aortic regurgitation (AR) due to prolapse of the right coronary aortic leaflet. The blue sclera (Panel A) and short stature were noted. Electrocardiography-gated computed tomography (CT) was performed, which showed spinal deformation due to scoliosis and lumbar compression fractures with a markedly tortuous abdominal aorta (Panel B). Multiplanar reconstruction images
more » ... ction images demonstrated left ventricular and aortic root dilatations, and bending of the right coronary aortic leaflet causing the prolapse (Panel C, red arrow). Restricted opening of the anterior mitral leaflet (Panel C, red arrow heads) was also evident, reflecting the eccentric AR jet blowing towards it (Panel C, yellow dotted arrow). A volume-rendered image revealed three-dimensional appearance of the leaflet bending (Panel D, between red arrows) and regurgitant orifice (Panel D, yellow arrow). As demonstrated, the cardiac valvar anatomy can be precisely evaluated by current CT. In patients with osteogenesis imperfecta or 'brittle bone disease', the hereditary disorder due to impaired synthesis of type I collagen, the cardiovascular anomalies preferentially involve the aortic root, ascending aorta, and the left-sided heart valves, generally manifesting in the second to fourth decades of life. AR due to leaflet abnormalities is the most common valvar anomaly. Partial prolapse of the aortic valvar leaflet is considered usually associated with leaflet bending in patients with AR. However, the mechanism of leaflet bending has not been established. This case implies the importance of aortic root dilatation and connective tissue fragility as the background mechanism of leaflet bending. Acknowledgments The authors thank Dr Kohei Hasegawa for his support in image acquisition and clinical management.
doi:10.1093/ehjci/jew057 pmid:27044917 fatcat:huyucid4dnhmdeug37gspn5mni