Marfan Syndrome Marfan syndrome is a degenerative generalized disorder of the connective tissue with

an incidence of 1 in 5,000 persons (FIGURE 1-24). The condition results from a single-gene mutation
(FBN1) on chromosome 15. This gene provides instructions for making a protein called fibrillin-1.
Fibrillin-1 binds to other fibrillin-1 proteins and other molecules to form threadlike filaments called
microfibrils. Microfibrils provide strength and flexibility to connective tissue as well as store and release
growth factors to control growth and tissue repair. The mutation causes excess growth factors to be
released, and elasticity in many tissues is decreased; together, these two processes lead to overgrowth
and instability of tissues. These defects produce a variety of ocular, skeletal, and cardiovascular
disorders. Clinical manifestations of Marfan syndrome vary widely in their severity, timing of onset, and
rate of progression. These manifestations include the following: • Aortic defects (e.g., coarctation,
aneurysm, dissection) (most life threatening) • Myopia (nearsightedness) and lens displacement (ocular
hallmark) • Increased height• Long extremities • Arachnodactyly (long, spiderlike fingers) • Sternum
defects (e.g., funnel chest or pigeon breast) • Chest asymmetry • Spine deformities (e.g., scoliosis or
kyphosis) • Flat feet • Hypotonia and increased joint flexibility • Highly arched palate, crowded teeth,
small lower jaw • Thin, narrow face • Valvular defects (e.g., redundancy of leaflets, stretching of the
chordae tendineae, mitral valve regurgitation, and aortic regurgitation) Multiple complications can occur
with Marfan syndrome, including the following: • Aortic rupture and internal bleeding • Weak joints and
ligaments that are prone to injury • Cataracts • Glaucoma • Retinal detachment • Severe mitral
regurgitation • Spontaneous pneumothorax • Inguinal hernia A thorough history and physical
examination are vital in diagnosing Marfan syndrome. In most cases, the family history is positive for the
disease or the symptoms, but as many as 25% of patients have no family history of this condition. A
physical examination would reveal the presence of the hallmark lens displacement and other symptoms
of the disease. Diagnostic procedures include a skin biopsy that would be positive for fibrillin, X-rays that
would confirm the skeletal abnormalities, an echocardiogram that would reveal the cardiac
abnormalities, and a DNA analysis for the gene. Typical treatment focuses on relieving symptoms and
may include the following measures: • Surgical repair of aneurysms and valvular defects • Surgical
correction of ocular deformities • Steroid and sex hormone therapy to aid in closure of long bones,
thereby limiting height • Beta-adrenergic blockers (which decrease blood pressure and heart rate) to
limit complications from cardiac deformities • Bracing and physical therapy for mild scoliosis, and
surgical correction for severe cases Other strategies include avoiding contact sports, supportive care for
the patient and family, and frequent checkups