Genetics of Marfan Syndrome Follow-up

Updated: Jan 04, 2017
  • Author: Germaine L Defendi, MD, MS, FAAP; Chief Editor: Maria Descartes, MD  more...
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Follow-up

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.

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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.

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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.

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Transfer

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

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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. [46] The following studies are indicated:

  • Echocardiography
  • CT scanning and MRI for aortic abnormalities
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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
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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. [47] Awareness, early and improved detection skills, timely and improved surgical techniques, and the prophylactic use of beta blockers have all contributed to increased survival. 

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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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