All::Rheumatology::Diseases::Marfan's syndrome

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What is the genetic basis of Marfan's syndrome?

Autosomal dominant; caused by a defect in the FBN1 gene on chromosome 15.

Marfan's syndrome

What is the characteristic arm span to height ratio in Marfan's syndrome?

Arm span to height ratio > 1.05.

Marfan's syndrome

Name some physical features associated with Marfan's syndrome.

Tall stature, high-arched palate, arachnodactyly, pectus excavatum, pes planus, scoliosis (>20 degrees).

Marfan's syndrome

What heart-related complications are common in Marfan's syndrome?

Dilation of aortic sinuses (90%), leading to aortic aneurysm, dissection, and regurgitation. Mitral valve prolapse is also common (75%).

Marfan's syndrome

What lung-related complication is associated with Marfan's syndrome?

Repeated pneumothoraces.

Marfan's syndrome

Name ocular features seen in Marfan's syndrome.

Upwards lens dislocation (superotemporal ectopia lentis), blue sclera, myopia.

Marfan's syndrome

What is dural ectasia in the context of Marfan's syndrome?

Ballooning of the dural sac at the lumbosacral level.

Marfan's syndrome

How has the life expectancy of Marfan's syndrome patients improved in recent years?

Regular echocardiography monitoring and beta-blocker/ACE-inhibitor therapy have significantly improved life expectancy. Aortic dissection and cardiovascular issues remain leading causes of death.

Marfan's syndrome