Marfan's Syndrome

Question 1

Description:

Answer 1

• Autosomal dominant disorder of connective tissue, characterised by loss of elastic tissue

Question 2

Aetiology/Risk factors:

Answer 2

Aetiology:
Fibrin 1 gene mutation on chromosome 15q21

Risk factor:
Family history of Marfan syndrome

Question 3

Signs:

Answer 3

• Tall stature
• Aortic valve murmur
• Mitral valve murmur
• Positive thumb sign
• Spontaneous pneumothorax
• Scoliosis
• Striae (stretch marks)
• Ectopia lentis

Question 4

Complications:

Answer 4

• Mitral regurgitation
• Aortic regurgitation
• Spontaneous pneumothorax
• Infective endocarditis

Question 5

Investigations:

Answer 5

• Familial genetic testing
• Genetic testing
• Echocardiogram
• CT scan
• MRI scan

Ghent 2010:

• Cardiovascular (aortic dilation)
• Eyes (ectopia lentis)
• Fibrillin 1 mutation

Systemic score of 7 or above

• Skeletal
• Skin
• Mitral valve prolapse
• Myopia (short sighted)
• Respiratory (pneumothorax)
• Dural elastica

Question 6

Treatment:

Answer 6

(Management involves an annual clinical review)

• Beta blockers
• Angiotensin receptor blockers
• Surgery