Late diagnosis of Marfan syndrome is associated with unplanned aortic surgery and cardiovascular death.

Background: Marfan syndrome (MFS) guidelines recommend optimal pharmacologic therapy (OPT) and replacement of the ascending aorta (RAA) at 5.0 cm in diameter to prevent acute type A aortic dissection (ATAAD) and death. The effect of early MFS diagnosis and initiation of therapy on outcomes is not known.

Analysis of Three-Dimensional Bone Microarchitecture of the Axis Exposes Pronounced Regional Heterogeneity Associated with Clinical Fracture Patterns.

The odontoid process (dens) of the second cervical vertebra (axis) is prone to fracture. While the importance of its skeletal integrity has been previously noted, representative three-dimensional microarchitecture analyses in humans are not available. This study aimed to determine the bone microarchitecture of the axis using high-resolution quantitative computed tomography (HR-pQCT) and to derive clinical implications for the occurrence and treatment of axis fractures.

The role of the multidisciplinary health care team in the management of patients with Marfan syndrome.

Marfan syndrome (MFS) is a rare, severe, chronic, life-threatening disease with multiorgan involvement that requires optimal multidisciplinary care to normalize both prognosis and quality of life. In this article, each key team member of all the medical disciplines of a multidisciplinary health care team at the Hamburg Marfan center gives a personal account of his or her contribution in the management of patients with MFS. The authors show how, with the support of health care managers, key team members organize themselves in an organizational structure to create a common meaning, to maximize therapeutic success for patients with MFS.