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  Marfan's Syndrome  
 
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Signs, symptoms and indicators | Conditions that suggest it | Contributing risk factors | It can lead to... | Recommendations

 

Also known as arachnodactyly, Marfan's syndrome is a rare hereditary disorder that causes connective tissue to be weaker than normal. Affected individuals are most often unusually tall and slender, with particularly long arms, legs and fingers in comparison to the rest of their body. This condition is thought to affect approximately one person in 10,000 in the US.

While there is no cure, there are effective treatments, and most people with the disorder live full active lives.

Conventional treatment recommendations include such things as:

1. Ocular and cardiovascular surveillance of all people with Marfan syndrome every 6-12 months
2. Activity restrictions:
NO Isometric exercise (no weight lifting)
No sudden acceleration/deceleration activities (roller coasters, bungy jumping, drag racing)
No unpressurized flights; No SCUBA diving
No competitive sports
No contact sports
3. Medications to minimize the rate of aortic root dilatation (beta blocking agents, calcium channel blocking agents)
4. Adherence to prophylactic antibiotic recommendations as indicated

Close surveillance of the Marfan aorta is recommended during pregnancy. If aortic enlargement is detected in the early stages of pregnancy, aortic imaging studies are recommended every 1 to 3 months until delivery.
 

 
 

Signs, symptoms & indicators of Marfan's Syndrome:
 
 
Symptoms - Skeletal  Double-jointedness
  Having weak arches
 
 

Conditions that suggest Marfan's Syndrome:
 
 
Circulation  Mitral Valve Prolapse

Symptoms - Head - Eyes/Ocular

  Having retinal detachments or having a retinal detachment
  Being nearsighted

Symptoms - Skeletal

  Scoliosis
  Having funnel chest or being pigeon breasted
 
 

Risk factors for Marfan's Syndrome:
 
 
Symptoms - Skeletal  Having long arms and legs
  Slender fingers / toes
  History of scoliosis

Counter-indicators:
  Having short arms and legs
 
 

Marfan's Syndrome can lead to:
 
 
Circulation  Mitral Valve Prolapse
 
 

Recommendations for Marfan's Syndrome:
 
 
HabitsNot recommended:
  Aerobic Exercise
 Because the Marfan syndrome appears in many forms, recommendations about exercise vary widely. People with dilation of the aorta may be asked to avoid the usual team sports. Isometric exercises (such as weight lifting or rowing) and contact sports in which a blow to the chest could occur (such as football or hockey) also may be off-limits. Many people with the Marfan syndrome can participate in modified physical and recreational activities without being overly concerned.

  Weight Training

Surgery/Invasive

  Surgery
 Surgical resection of the aorta is recommended when:
1. Aortic aneurysm size on echocardiogram, MRI or CAT scan exceeds 4.5 to 5 cm in diameter
2. When the ascending aortic diameter is twice the diameter of the descending thoracic aorta
3. In children, when the ascending aortic diameter is twice the expected diameter for person this age and size.

Mitral valve repair or replacement may be necessary.
 
 


KEY
Weak or unproven link
Strong or generally accepted link
Strongly counter-indicative
May do some good
May have adverse consequences
Reasonably likely to cause problems