Marfan syndrome

Marfan syndrome

What is the Marfan syndrome?

The Marfan syndrome is a connective tissue disorder. Connective tissue provides substance and support to tendons, ligaments, blood vessel walls, cartilage, heart valves and many other structures. In the Marfan syndrome, the chemical makeup of the connective tissue isn't normal. As a result, many of these structures aren't as stiff as they should be.

The Marfan syndrome is inherited and affects many parts of the body. There's no single conclusive test for diagnosing it, but people who have it often have many similar traits. Besides perhaps having heart problems, people with the Marfan syndrome are often tall and thin. They also may have slender, tapering fingers, long arms and legs, curvature of the spine and eye problems. Sometimes the Marfan syndrome is so mild that few (if any) symptoms exist. In the most severe cases, which are rare, life-threatening problems may occur at any age

Symptoms

Although there are no unique signs or symptoms of Marfan syndrome, the constellation of long limbs, dislocated lenses, and aortic root dilation is sufficient to make the diagnosis with confidence. There are more than 30 other clinical features that are variably associated with the syndrome, most involving the skeleton, skin, and joints. There is a great deal of clinical variability even within families that carry the identical mutation.

• Aortic aneurysm or dilation
• Arachnodactyly
• GERD
• Bicuspid aortic valve
• Cysts
• Cystic medial necrosis
• Deviated septum^[18]
• Dural ectasia
• Early cataracts
• Early glaucoma^[19]
• Early osteoarthritis^[20]
• Ectopia lentis
• Emphysema^[21]
  

• Obstructive lung disease
• Osteopenia (low bone density)^[24]
• Pectus carinatum or excavatum
• Pneumothorax (collapsed lung)
• Retinal detachment
• Scoliosis
• Sleep apnea
• Stretch marks not from pregnancy^[25] or obesity
• Teeth crowded^[25]
• "Narrow, thin face"^[22]
• Temporomandibular joint disorder (TMD)^[26]

A young man with Marfan syndrome, showing characteristically long limbs and narrow face.

Arachnodactyly in an 8-year-old girl with Marfan syndrome.

The hand at the left is that of a young woman with Marfan's syndrome, while the hand at the right is a normal male. Both persons were of the same height, 188 cm. However, note that the hand at the left demonstrates arachnodactyly.

This mucin stain of the wall of the aorta demonstrates cystic medial necrosis, typical for Marfan's syndrome and causes the connective tissue weakness that explains the aortic dissection. Pink elastic fibers, instead of running in parallel arrays, are disrupted by pools of blue mucinous ground substance.

This view of the mitral valve in a patient with Marfan's syndrome depicts a floppy mitral valve. The leaflet on the lower left has ballooned upward and the prolapse has resulted in contusion of the top of the leaflet, with a red black area of discoloration.

• Eye iris coloboma^[22]
• Flat feet
• Above-average height
• Heart palpitations^[23]
• Hernias
• Hypermobility of the joints
• Kyphosis (hunched back)
• Leaky heart valve
• Malocclusion
• Micrognathia (small lower jaw)^[22]
• Mitral valve prolapse
• Myopia (near sightedness)