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Marfan Syndrome

Wake Forest Baptist Approach The aorta is the largest blood vessel in the body.  It arises from the left ventricle from the heart.  It arches over the left side of the heart and gives rise to blood vessels supplying the head, neck and arms.  It then courses downward within the chest into the abdomen giving rise to blood vessels supplying the abdominal organs and kidneys and finally divides into two arteries, the right and left iliac arteries. Diseases of the aorta are either congenital (present at birth) or acquired later in life.   Some examples of congenital diseases of the aorta are coarctation and the Marfan syndrome.  A coarctation is a narrowing of the aorta, typically located after the blood vessel to the left arm.  Because the kidneys do not “see” as high of a blood pressure as they would like, they release substances to raise the pressure.  In this fashion, the heart, brain and arms are subject to a much higher pressure than normal.  A coarctation can therefore lead to extremely high blood pressure, particularly in young people.  A coarctation is suspected clinically with extremely high pressures in the arm and low blood pressures in the leg.  It is easily visualized by a CT (computed tomography) scan or MRI (magnetic resonance imaging).  Coarctation of the aorta can be treated either surgically or with an angioplasty (Instruments introduced by an artery in the leg). The Marfan syndrome is an inherited condition affecting the connective tissue.  Medical geneticists (specialists in inherited diseases) often make the diagnosis after a careful physical examination, including an echocardiogram (ultrasound of the heart) and a slit-lamp exam of the eyes.  Many systems can be affected, including the skeleton, eyes, nervous system, heart and aorta.  The most important and life-threatening complication of the Marfan syndrome is enlargement of the aorta, typically located at the aorta ascends from the heart.  When the aorta enlarges, a dissection (tear in the blood vessel) may occur which can be lethal.  Patients with the Marfan syndrome routinely undergo an echocardiogram or MRI or the heart of follow the size of the aorta.  If the aorta suddenly enlarges or if the diameter is greater than 5 cm, surgery to replace the ascending aorta is recommended.  Asymptomatic patients are encouraged to take beta blockers (medications) to reduce the wall stress of the aorta. Diseases of the aorta may be acquired later in life as well.  The aorta may develop an aneurysm (focal area of enlargement) which has the potential for rupture, clotting or dissection.  Individuals at higher risk for developing an aneurysm are those with a family history of vascular disease, smoking and high blood pressure.  Aneurysms in the abdominal aorta can be followed non-invasively with ultrasound.  Aneurysms in the chest may be visualized by chest X-ray, but are usually evaluated with a CT scan or MRI.  Aneurysms are usually treated surgically when the vessel measures 5 – 6 cm.  A newer non-invasive technique, an “endovascular” repair using instruments threaded into the aneurysm from arteries in the leg, is now being performed on selected patients in the United States.   Marfan syndrome Pectus excavatum Marfan's syndrome Definition: Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin. Causes, incidence, and risk factors: Marfan syndrome is caused by defects in a gene called fibrillin-1. Fibrillin-1 plays an important role as the building block for elastic tissue in the body. A problem with this gene leads to changes in elastic tissues, particularly in the aorta, eye, and skin. The gene defect also causes too much growth of the long bones of the body. This causes the tall height and long arms and legs seen in people with this syndrome. How this overgrowth happens is not well understood. In most cases, Marfan syndrome is inherited, which means it is passed down through families. However, up to 30% of cases have no family history. Such cases are called "sporadic." In sporadic cases, the syndrome is believed to result from a spontaneous new gene defect. Symptoms: People with Marfan syndrome are usually tall with long, thin arms and legs and spider-like fingers -- a condition called arachnodactyly. When they stretch out their arms, the length of their arms is much greater than their height. Other symptoms include: Coloboma of iris Flat feet Funnel chest (pectus excavatum) or pigeon breast (pectus carinatum) Highly arched palate and crowded teeth Hypotonia Learning disability Movement of the lens of the eye from its normal position (dislocation) Nearsightedness Scoliosis Small lower jaw (micrognathia) Thin, narrow face Signs and tests: The doctor will perform a physical exam. There may be hypermobile joints and signs of: Aneurysm Collapsed lung Heart valve problems An eye exam may show: Defects of the lens or cornea Retinal detachment Vision problems The following tests may be performed: Echocardiogram Fibrillin-1 mutation testing (in some people) An echocardiogram should be done every year to look at the base of the aorta. Treatment: Vision problems should be treated when possible. Take care to prevent scoliosis, especially during adolescence. Medicine to slow the heart rate may help prevent stress on the aorta. Avoid participating in competitive athletics and contact sports to avoid injuring the heart. Some people may need surgical replacement of the aortic root and valve. People with Marfan syndrome should take antibiotics before dental procedures to prevent endocarditis. Pregnant women with Marfan syndrome must be monitored very closely because of the increased stress on the heart and aorta. Support Groups: National Marfan Foundation -- www.marfan.org Expectations (prognosis): Heart-related complications may shorten the lifespan of people with this disease. However, many patients survive well into their 60s. Good care and surgery may extend the lifespan further. Complications: Complications may include: Aortic regurgitation Aortic rupture Bacterial endocarditis Dissecting aortic aneurysm Enlargement of the base of the aorta Heart failure Mitral valve prolapse Scoliosis Vision problems Calling your health care provider: Experts recommend genetic counseling for couples with a history of this syndrome who wish to have children. Prevention: Spontaneous new gene mutations leading to Marfan (less than 1/3 of cases) cannot be prevented. If you have Marfan syndrome, see your doctor at least once every year. References: Pyeritz RE. Inherited Diseases of Connective Tissue. In: Goldman L, Ausiello D. Goldman: Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 281. Robinson LK, Fitzpatrick E. Marfan Syndrome. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF. Kliegman: Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 700.

Review Date:5/15/2008 Reviewed By:Chad Haldeman-Englert, MD, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.