General appearance – Tall, thin patients (sometimes referred to as an “Abe Lincoln” appearance) presenting with spontaneous retinal detachment may very likely have undiagnosed Marfan’s syndrome.

Avoid hypertension – The focus on these patients is cardiopulmonary function – specifically on avoiding high blood pressures, which can cause an aortic dissection.  Be prepared during the high-stress intraoperative events (intubation, incision, extubation, etc)

Continue beta blockers – Patients with Marfan’s syndrome receive beta blockers to decrease the rate of aortic dilation.  These should be continued perioperatively.  The goal is to keep them as close to their baseline as possible.

Difficult intubation risk – TMJ dislocation and high arched palate can make for difficult intubations (crowded teeth).

C-spine precautions – C-spine laxity can lead to dislocation if you’re not being careful during intubation.

Careful PEEP – If the patient is positive for pulmonary cysts, be very careful with positive pressure ventilation.  Consider spontaneous ventilation where possible.

Mitral regurgitation is common – remember FFF – you want to keep circulation fast, full, and forward.

Joint laxity – implies careful positioning. This also implies possibilities of a difficult spinal placement as ligamental laxity can reduce the distance between vertebral processes.

Avoid nitrous oxide – These patients have a high incidence of spontaneous pneumothorax

Bleeding risk – Coumadin use is very common in patients presenting for valve replacement

Dilation of the aorta during pregnancy – this will NOT return to normal after pregnancy.  Each pregnancy will further dilate the aorta (increasing risks of rupture/dissection)

Autosomal dominant

Roughly 1:5,000 people are affected by this disease

Begins at childhood and may progress quickly

Diagnosis is found based on clinical findings (no specific lab test is designed to detect it). The multitude of clinical findings can include tall stature, arachnodactyly (abnormally long thin fingers and toes), thoraco-lumbar scoliosis, pectus excavatum/carinatum, ascending aortic dilation/dissection, pulmonary artery dilation, cardiac valve diseases, Steinburg’s sign, ocular issues, dural dilation with lower extremity pain, pulmonary blebs/spontaneous pneumothorax, joint laxity/hypermobility.

This disease is considered a connective tissue disorder (specifically mutation of the fibrillin-1 gene on chromosome 15)

As a connective tissue disorder, it affects substrates for elastin throughout the body
musculoskeletal – ligaments, spinal dura
Pulmonary – airways
ocular – lens zonules
cardiac – focus of the affects is usually on the aorta, but can affect all the valves and vessels as well. Valvular disease is present in 80% of Marfan syndrome patients. Mitral valve prolapse/regurgitation is the most common, whereas aortic regurgitation is the most severe.

Progression of the disease usually starts with mitral/tricuspid regurgitation (roughtly 68% of pediatric patients with Marfan’s will have this) and then progresses to weakening of the aortic wall, then to aortic dissection (type II aortic dissection is the most common). Aortic involvement rarely occurs before the second decade of life.

ECG may show signs LAH, BBB, and axis shifts (more prominent in patients with pectus excavatum)

Morbidity and Mortality is primarily due to cardiovascular disease (average age at death is 30-40 years unless treated)

Pulmonary effects may include spontaneous pneumothorax (high incidence), early airway closure, emphysematous bronchogenic cysts, and honeycomb lungs.

Musculoskeletal problems of interest are c-spine and mandibular laxity. However, this condition can have similar affects on the major ligaments of the body such as the hip.