Background: Autosomal dominant (90% have a mutation in the Fibrillin-1 gene, most others have a mutation in transforming growth factor receptor-2 gene) connective tissue disorder with an incidence of approximately 1 in 4,000. A similar, but less common variant known as Loeys-Dietz aneurysm syndrome (LDAS) is due to a mutation in the transforming growth factor receptor-1 gene. Known but relatively irrelevant (from an anesthetic standpoint) musculoskeletal abnormalities include tall stature, long limbs, and high arches. Potentially important abnormalities include hyperextensible joints (possible positioning implications), high arched palate (airway implications), pectus excavatum, and kyphoscoliosis (difficulties with neuraxial anesthesia).
Cardiovascular Considerations: these patients my have aortic root dilation (> 6 cm is an indication for surgery), significant valvular pathology, and cardiac conduction abnormalities (especially bundle branch block).
Pulmonary Considerations: many of these patients have emphysema, which, combined with kyphoscoliosis and pectus excavatum, can make ventilation more challenging. Patients with Marfan’s Syndrome are at increased risk for spontaneous pneumothorax.
Medical/Surgical Treatment: most of these patients will be on chronic beta blockers. Common operations include cardiovascular surgery (valve replacement) and spine surgery (to correct severe scoliosis).
Anesthetic Considerations: always conduct a complete auscultatory exam in anyone who you suspect has undiagnosed Marfan’s Syndrome, as mitral and aortic valvular pathology is common. For those who have known Marfan’s Syndrome, they are likely followed by a cardiologist (serial TTE assessment of the aorta), thus the data required to fully assess their cardiovascular pathology should be available. Always keep in mind the potential for more difficult ventilation, and the relatively high incidence of spontaneous pneumothorax (? [low] pressure controlled ventilation). Take particular care with positioning (not only are these patients taller, they may be hyperflexible), and always keep in mind that neuraxial anesthesia may be difficult, if not impossible, in patients with substantial kyphoscoliosis.
- Dilated aortic root
- Valvular pathology
- Bundle Branch Blockade
- Spontaneous Pneumothorax
- Pectus excavatum
- Hyperextensible joints
- GOOD AUSCULTATORY EXAM in anyone who you suspect has undiagnosed Marfan’s
- Fully assess the cardiovascular pathology
- Keep in mind the potential for more difficult ventilation (emphysema)
- Consider (low) pressure-control ventilation to lower the risk of pneumothorax
- Take particular care with positioning (not only are these patients taller, they may be hyperflexible)
- Neuraxial anesthesia may be difficult
Evidence-Based Medicine: Given the low incidence of Marfan’s Syndrome, there are no evidence based guidelines available, nor are any forthcoming.