Marfan syndrome

This is an inherited genetic disease. Marfan syndrome is also known as arachnodactyly, or "spider fingers," because affected individuals have characteristic long, thin fingers suggesting the legs of a spider.

The diagnosis of Marfan syndrome requires a family history of the disease and two of three body systems affected:

eye - the classic malformation is dislocation of the lens of the eye, but other problems can include glaucoma or retinal detachment
skeletal abnormalities are the most striking; very tall stature, with characteristic changes in body proportions
cardiovascular problems, including most commonly mitral valve prolapse, but also the more serious aortic root dilatation with aneurysm¹ and possible aortic dissection²

If there is no family history of the disease, all three areas must show typical manifestations for the diagnosis to be made.

The most obvious manifestation of Marfan syndrome is extreme height. Males often exceed 6 feet 5 inches; females are more than 6 feet tall. The arms are very long; arm span (fingertip to fingertip, arms outstretched) often exceeds the height. Ninety percent of affected individuals have arachnodactyly, the charactersitic long, spidery fingers. The joints are typically very loose ("double-jointed"), and dislocations of the knee, hip or ankle are not uncommon. Chest deformity (pectus excavatum, or "funnel chest," or more rarely pectus carinatum, "pigeon chest") is common. Scoliosis is common but ordinarily not severe. In the mouth, a high, arched palate is common.

The diagnosis of Marfan syndrome is important because of the risk of sudden cardiac death. Surgical repair of aortic root aneurysm with grafting and a new artificial valve is now done more routinely. Teenagers with Marfan syndrome must be cautioned not to lift weights, and not to play volleyball, basketball, or contact sports because of the risk of joint dislocation or sudden death by heart attack.

1. aneurysm - a ballooning enlargement of a weakened or structurally abnormal artery; aneurysms may either dissect (below) or rupture, causing hemorrhage - often catastrophic. Aneurysm of the aortic root causes spreading of the aortic valve as well, which pulls the leaflets apart and leads to leakage of high pressure blood back into the heart and reduced pumping efficiency.

2. dissection - blood under pressure splits the wall of the artery which has been weakened by aneurysm; as the split travels along the artery, it will inevitably reach a point where it causes compression and blockage of tributary arteries. Aortic root dissection can cause blockage of the coronary arteries, causing sudden death.

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