Marfan Syndrome

Familial disorder of generalized connective tissue abnormalities leading to connective tissue weakness with hyperextensible joints, eyes (dislocation of the lens), increased risk of valvular/aortic dissection disease, and spontaneous pneumothorax. The leading cause of mortality in the infancy period is progression from mitral valve prolapse to regurgitation often in conjunction with tricuspid regurgitation.

###### Marfan syndrome

Hyperlaxity of the joints (wrist, ankles) and arachnodactyly (finger and toes) in a newborn with Marfan syndrome.

###### Marfan syndrome

Characteristic adduction of the thumb and arachnodactyly in the same child with Marfan syndrome.

First described in 1896 in a 5-year-old girl, Gabrielle P, by Antoine B. J. Marfan, a French pediatrician. The girl had disproportionately long limbs, hands, and feet. Marfan used the term “pattes d'araignée" (spider's legs) and originally called the condition “dolichostenomely" (Greek: stenos = narrow; slender; melos = limb). In 1902, H. Méry and L. Baboneix confirmed radiologically the skeletal anomalies. The first person to use the term “Marfan's syndrome” was Henriculus J. M. Weve of Utrecht in 1931.

In the United States, this medical condition affects about 1:10,000 individuals and possibly as many as 1:3000-5000 individuals. It is estimated that in 2004 at least 200,000 people had Marfan syndrome. Internationally, there are no geographic predilections.

Autosomal dominant trait with variable expression. Approximately 15% of cases occur sporadically. In fewer than 1% of cases, it is autosomal recessive.

Mutations in the gene for fibrillin-1 on chromosome 15 (15q21.1). Fibrillin is a major component of microfibrils, which are structural components of the zonular fibers of the lens and associated with elastic fibers in the aorta and skin. Tensile strength of collagen is reduced, while its elasticity is increased. Degeneration of media of the pulmonary artery, aorta, and distal arteries lead to “cystic medial necrosis” and weakness. Aneurysm formation results. Disproportionate growth of long bones is present, leading to arachnodactyly with hyperextensible joints. Emphysema and spontaneous pneumothorax may occur.

The thumb and wrist signs are screening tests for the joint hypermobility of Marfan syndrome. The former is positive when the thumb extends well beyond the ulnar border of the hand when overlapped by fingers and the latter positive when the thumb overlaps the fifth finger as they grasp the opposite wrist. The definitive diagnosis is made on clinical grounds; at least two of the four criteria should be present: a positive family history of the condition, the skeletal, cardiovascular, or ocular features. There is no diagnostic laboratory test.

In persons younger than 20 years, the prevalence of serious cardiac complications is low, but aortic root diameter increases with age and aortic regurgitation and type II dissection ...

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