Analysis of Protrusio Acetabuli Using a CT-based Diagnostic Method in Korean Patients with Marfan Syndrome: Prevalence and Association with Other Manifestations

A new CT-based diagnostic method of protrusio acetabuli (PA) was introduced. However, prevalence of PA by this method and correlation between PA and other manifestations of Marfan syndrome (MFS) is unknown in Korean MFS patients. This study aimed to investigate the prevalence of PA diagnosed by a CT-based method in Korean patients with MFS, the association of PA with other manifestations of MFS, and the contribution of PA to MFS diagnosis. We retrospectively reviewed the records of 146 MFS patients with the presence of a causative FBN1 mutation and 146 age- and sex-matched controls from a single tertiary care center. All MFS patients underwent a complete assessment of criteria based on the revised Ghent nosology. PA was assessed quantitatively using a CT-based circle-wall distance (CWD) method. PA was diagnosed in 77.4% of patients in the MFS group and in 11.0% of the control group. CWD was significantly different between the two groups (1.50 mm vs. -0.64 mm, P<0.001). The presence of PA did not correlate with the presence of ectopia lentis, aortic root diameter, or history of aortic dissection. The presence of PA did not have a significant impact on the final diagnosis of MFS. Even though the presence of PA does not related to the cardinal clinical features of MFS or influence MFS diagnosis, its presence may be helpful for the suspicion of MFS when aortic dissection or aneurysm is found on CT angiography of the aorta because of the high frequency of PA in MFS patients.

Aortic Pathologies and Pregnancy: A Special Focus on Connective Tissue Disorders.

Pregnancy represents a physiological status which, due to clear and typical hormonal and hemodynamic changes, is frequently accompanied by a high morbidity of aortic structures, in all of its segments. Such morbidity might become patent when a pregestational situation exists, especially with the mother suffering from connective tissue disorders. Nevertheless, morbid occurrences that will be met only during pregnancy are well known, with particular pathophysiological and etiological theories, as well as a diversity of treatments proposed in such an unusual setting. The authors discuss the main pathologies of aorta that are seen during pregnancy, from a theoretical point of view, and from a historical perspective as well. A special focus is made to the connective tissue disorders, and the theoretical considerations are illustrated with images of dissecting aneurysms of aorta.

The marfan syndrome an echocardiographic study

Marfan's syndrome was first reported by a French Dr. Marfan in 1896. It is an inherited generalised disorder of connective tissue with ocular; skeletal and cardiovascular manifestations. There is wide variability and clinical expression. The prevalence of disorder has been estimated to be more than 1 in 50 000; perhaps 1 in 10 000 persons. This text finalement is a report about marfan's syndrome in Seychelles