Complications of Marfan Syndrome

Marfan syndrome is an autosomal dominant genetic disorder that affects the connective tissue and is manifested by disproportionately long limbs, long thin fingers, a tall stature, as well as cardiovascular abnormalities that affect the heart valves and aorta. The disease may also affect numerous other structures and organs, including the lungs, eyes, dural sac surrounding the spinal cord, and hard palate.

1. ectopia lentis, myopia, retinal detachment, glaucoma
2. high, narrow palate
3. pectus excavatum
4. aortic dissection, aneurysm, mitral valve prolapse
5. spontaneous dislocation
6. abnormal joint mobility
7. pes planus
8. dural ectasia
9. spontaneous pneumothorax, emphysema
10. scoliosis
11. striae
12. arm span to height ratio exceeding 1.05

Cardiovascular

Dysfunction of the aortic root, including aneurysmal dilatation, regurgitation, and dissection, is the main cause of morbidity and mortality in patients with Marfan Syndrome. Unfortunately, no heart problems may be apparent until the weakening of the connective tissue in the ascending aorta causes an aortic aneurysm or aortic dissection. In addition, mitral valve prolapse associated with mitral regurgitation, is a common finding and can be diagnosed on echocardiography in many patients with Marfan Syndrome.

Eyes

Ectopia lentis, in which the lens is usually displaced upward, is another common finding in the outpatient clinic. In addition, patients may experience secondary myopia, retinal detachment, glaucoma, and iritis with loss of vision, leading to ocular related morbidity in Marfan patients.

Pregnancy

Women with Marfan who are considering pregnancy should have a transthoracic echocardiogram. Those with aortic root diameters of 40 mm who become pregnant should be monitored closely during the course of the pregnancy.4 All such women should receive a beta blocker, preferably labetalol, during the pregnancy.

Management

• A beta blocker should be used in children and adults with Marfan Syndrome. Propranolol was the beta blocker used in the first clinical trial to demonstrate a beneficial effect on slowing aortic dilation, but other beta blockers may be used as well.

• Elective aortic repair and surgical intervention for skeletal and ocular abnormalities may be necessary.

• Patients with Marfan Syndrome who have had aortic valve replacement and those who have significant valvular regurgitation should receive prophylactic antibiotics before dental procedures that are considered high risk for causing endovascular infection.

• High intensity exercise, especially those involving bursts of activity (like sprinting) or exercises that cause marked increases in blood pressure (like weight lifting) should be avoided.

References

1. What is Marfan Syndrome. http://www.marfan.org.za/whatis.html

2. Adams, JN, Trent, RJ. Aortic complications of Marfan's syndrome. Lancet 1998; 352:1722.

3. Tsipouras, P, Del Mastro, R, Sarfarazi, M, et al. Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly on the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med 1992; 326:905.

4. Bonow, RO, Carabello, BA, Chatterjee, K, et al. ACC/AHA 2006 guidelines for the management of patients with valvular heart disease. A report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines. J Am Coll Cardiol 2006; 48:e1

5. Wright, MJ, Dietz, HC III. Connective tissue diseases. In: Oski's Principles and Practice of Pediatrics, McMillan, J, Oski, F (Eds), Lippincott Raven, Philadelphia 1999.

6. Shores, J, Berger, KR, Murphy, E, et al. Progression of aortic dilatation and the benefit of long-term beta-adrenergic blockade in Marfan's syndrome. N Engl J Med 1994; 330:1335.

13. above average height

14. ADD, hyperactivity

Category: Medicine Notes