Inherited connective tissue disease

Question 1

Marfan syndrome arises due to mutations of _____ in chromosome ____

Answer 1

Fibrillin 1

Chromsoome 15

Question 2

Marfan syndrome is inherited via what pattern?

Answer 2

Autosomal dominant

Question 3

MSK features of Marfan syndrome

Answer 3

Arachnodactyly
- Spidery, long fingers and toes

Hypermobility

Joint instability

Pectus excavatum/ excavatum

Kyphoscoliosis

Question 4

What two signs are associated with Marfan syndrome

Answer 4

Walker’s sign (Wrist sign)

Steinberg sign (thumb sign)

Question 5

Cardiovascular features of Marfan syndrome

Answer 5

Aortic involvement
- Dilation, regurgitation
- Rupture
- Dissection

MV prolapse, regurgitation

Question 6

Dolichostenomelia describes

Answer 6

Arms and legs disproportionately longer than trunk
- Seen in Marfan’s syndrome

Question 7

Ocular features of marfan syndrome

Answer 7

Anterior lens dislocation

Close angle glaucoma

Myopia

Question 8

How is marfan’s syndrome monitored

Answer 8

Annual echocardiogram
- assess valvular function

Cardiovascular MR/ CT
- Repeated every 5 years

Holter cardiac monitor (if symptomatic)
- Assesses for conduction abnormalities/ arrhythmias

Question 9

What 2 medications are used to manage Marfan syndrome

Answer 9

Beta-blockers
- propranolol

ARB antagonist
- Lorsartan