marfans syndrome

Question 1

define, s/s, prog

Answer 1

Marfan’s syndrome is an autosomal dominant connective tissue disorder. It is caused by a defect in the fibrillin-1 gene on chromosome 15 and affects around 1 in 3,000 people.

Features

• tall stature with arm span to height ratio > 1.05
• high-arched palate
• arachnodactyly
• pectus excavatum
• pes planus
• scoliosis of > 20 degrees
• heart: dilation of the aortic sinuses (seen in 90%) which may lead to aortic aneurysm, aortic dissection, aortic regurgitation, mitral valve prolapse (75%),
• lungs: repeated pneumothoraces
• eyes: upwards lens dislocation (superotemporal ectopia lentis), blue sclera, myopia
• dural ectasia (ballooning of the dural sac at the lumbosacral level)

The life expectancy of patients used to be around 40-50 years. With the advent of regular echocardiography monitoring and beta-blocker/ACE-inhibitor therapy this has improved significantly over recent years.

Aortic dissection and other cardiovascular problems remain the leading cause of death however.

Question 2

mx

Answer 2

ophthalmology and cardiology review

early intervention with beta-adrenergic blocking agents and careful echocardiography examination may help to slow aortic dilatation and allow prophylactic aortic root replacement before dissections occur

• beta blocker treatment reduces dilatation of the aorta, and delays the need for corrective surgery by up to 5 years
• lowering the adult systolic blood pressure to 110 mmHg is recommended to reduce the strain on the aortic root