Marfan Syndrome

Marfan Syndrome is an autosomal dominant multi-system genetic disorder characterized by abnormal manifestations in the skeletal, cardiovascular, and ocular systems. The typical facial features observed in Marfan syndrome include: an elongated face, deep set eyes, flat cheek bones, a posteriorly positioned jaw, and down slanting palpebral fissures. Increased linear growth of the long bones is a common finding and generally results in a tall stature with long limbs. The torso length to leg length ratio is often reduced, while the arm span to height ratio may be increased. Thoracolumbar scoliosis, as seen in this image, is also commonly present. Increased joint laxity and arachnodactyly are common, and when both present the combination can result in a of couple signs. The wrist sign is positive if the distal phalanges of the thumb and fifth finger overlap when the wrist is grasped with the opposite hand. And a positive thumb sign is present when the entire distal phalanx of an adducted thumb is visible beyond the ulnar border of the hand. Some other common skeletal manifestations include pectus excavatum, pectus carinatum, hindfoot valgus, and pes planus. A variety of ocular manifestations can occur, such as sublaxation of the corneal lens, myopia, cataracts, and glaucoma. Ectopio lentis, in which the lens is typically displaced upwards and temporally, is a cardinal feature of Marfan syndrome. Aortic dilation is a potentially life-threatening complication can occur. In this echocardiography we can see that the aortic root is abnormally wide. Aortic dissection is another serious complication. In this echocardiography we can see a double lumen. Blood flow through during ventricular systole indicates that the upper lumen is the true lumen. Two other cardiac manifestations that commonly occur in patients with Marfan syndrome are mitral valve prolapse and a bicuspid aortic valve. As well, many other abnormalities may be present, such as herniae and skin striae. Although it is an autosomal dominant condition, the phenotypic expression is highly variable. Affected parents may not even be aware that they have it and may negate a family history of the disease. De novo gene mutations also occur, in which case no other family member will be affected. The diagnosis can be made if ≥2 of the following are present: family history, ectopia lentis, aortic dilation/dissection, or a causal mutation in the FBN1 gene. It is important to note that a minority of patients with Marfan syndrome do not have a defined FBN1 gene mutation. If the patient only has the aortic criterion or a positive family history, then a systemic score 7 or more in the REVISED GHENT CRITERIA is required. Transthoracic echocardiogram screening is recommended at 6 - 12 month intervals. Consider B-blockers and advise patients to AVOID caffeine, stimulants, weight-lifting, and high intensity/contact sports. The addition of an angiotensin receptor blocker is also indicated for patients with an aortic aneurysm. Low to moderate-intensity exercise is beneficial and should be encouraged

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