Further Outpatient Care

Ensure long-term cardiac follow-up, including regular blood pressure measurements and echocardiography. Patients also need lifelong cardiovascular surveillance to detect new or recurrent disease. After aortic surgery, follow-up is necessary to monitor for the possible development of lesions involving different segments and for pseudoaneurysms at the anastomosis site, which cause nearly 40% of late deaths postoperatively.

Further Inpatient Care

Provide care for postoperative complications in patients with Marfan syndrome (MFS), including dysrhythmias, thromboembolism, endocarditis, coronary dehiscence, congestive heart failure, renal failure, and respiratory failure. Observe the patient for postoperative hemorrhage and pseudoaneurysm formation.

Inpatient & Outpatient Medications

Patients with mitral valve prolapse require prophylactic antibiotics before dental or invasive procedures.

All patients should receive treatment with long term beta-adrenergic blockade if they have no medical contraindications.

Transfer

Transfer may be required for further diagnostic evaluation and surgical intervention.

Deterrence/Prevention

Patients should avoid strenuous activities and sports, such as basketball, volleyball, football, racquetball, squash, boxing, track, diving, and weightlifting.

Patients should wear eye protection to guard their eyes from injury during work and sports.

In general, athletes should be referred to a cardiologist if physical evidence of Marfan syndrome (MFS) is noted.^[57]The following studies are indicated:

Echocardiography
CT scanning and MRI for aortic abnormalities

Complications

Complications that affect the aorta are the primary cause of death in Marfan syndrome (MFS). Aortic dissection can result in lethal hemorrhage, acute aortic valvular insufficiency, mitral insufficiency, pericardial tamponade, or visceral ischemia.

Complications can also include the following:

Mitral valve prolapse - May cause clinically significant mitral regurgitation, the most common cause of death in children with MFS
Bacterial endocarditis - Commonly occurs after procedures and surgeries
Severe pectus excavatum - Can compromise cardiac and pulmonary function
Retinal detachment - A rare complication

A study by Van Lam et al using cardiac MRI and feature-tracking strain analysis indicated that with regard to systolic cardiac dysfunction in children with MFS, an association exists between chest wall deformity and reductions in right ventricular volume, ejection fraction, and global longitudinal strain. There is also an indication that systolic left ventricular function is impaired in the presence of chest wall deformity.^[58]

Prognosis

The patient's prognosis depends on the severity of cardiovascular complications and is mainly determined by progressive dilation of the aorta, which potentially leads to aortic dissection and death at a young age.

In the 1970s, the average life expectancy for a patient with MFS was 45 years old. Life expectancy has since increased to about 70 years.^[59]Awareness, early and improved detection skills, timely and improved surgical techniques, and the prophylactic use of beta blockers have all contributed to increased survival.

Patient Education

Lifestyle adaptations, such as avoidance of strenuous exercise and contact sports, are often necessary to reduce the risk of aortic dissection.

Patients should wear a Medic-Alert bracelet in case of an emergency.

The Marfan Foundation is an excellent resource for information about Marfan syndrome (MFS) (phone: 1-800-8-MARFAN, email: staff@marfan.org).

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Media Gallery

Adult with Marfan syndrome. Note tall and thin build, disproportionately long arms and legs, and kyphoscoliosis.
Positive wrist (Walker) sign.
Positive thumb (Steinberg) sign.
Arachnodactyly.
Pectus excavatum of moderate severity.
Hypermobility of finger joints.
Stretch marks (striae atrophicae) in the lower back.
Dural ectasia in the lumbosacral region.
Typical face seen in a girl with Marfan syndrome characterized by dolichocephaly, malar hypoplasia, enophthalmos, retrognathia, and down-slanting palpebral fissures.