Marfan Syndrome

Marfan syndrome is a genetic condition primarily caused by mutations in the fibrillin-1 (FBN1) gene, which encodes a glycoprotein component of connective tissue. The manifestations of Marfan syndrome result from weakened connective tissues. These include everything from ocular (lens dislocation, retinal detachment, myopia) and cardiovascular (aortic aneurysm, aortic dissection, mitral valve prolapse) to skeletal (tall stature, arachnodactyly, chest wall abnormalities, scoliosis/kyphosis). 

An upper-to-lower segment ratio (lower segment from the symphysis pubis to the floor, the upper segment is the total height minus the lower segment) < 0.86 in an adult is an objective measure of a Marfanoid habitus. In other words, as seen in this CT scout film, the legs are disproportionately longer than the torso.

The management of Marfan syndrome is largely centered around monitoring and preventing complications. As a cardiac anesthesiologist and intensivist, I have cared for many patients with Marfan syndrome pre, intra, and post-operatively with aortic root replacements, ascending aneurysm repairs, descending thoracoabdominal aneurysm repairs, etc. The threshold to operate on these patients is lower to avoid potentially life-threatening complications later in life.

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