Marfans syndrome

Question 1

Epidemiology

Answer 1

1/5000

Question 2

Aetiology

Answer 2

Mutation in FBN1 - encoding the microfibrillar protein fibrillin-1

Question 3

Pathophysiology

Answer 3

a developmental abnormality manifesting perturbed cytokine signalling

inherited connective tissue disorder with characteristic skeletal, dermatological, cardiac, aortic, ocular and dural malformations

Question 4

Natural History

Answer 4

premature death if unmanaged

Question 5

Clinical Manifestations

Answer 5

tall, thin, long face, hyper mobile jts, scoliosis, chest shape deformity, flat feet

Question 6

Symptoms

Answer 6

inherited connective tissue disorder with characteristic skeletal, dermatological, cardiac, aortic - dilation/regugitation
ocular and dural malformations

Question 7

Signs

Answer 7

arms longer the body
mitral valve prolapse, mitral regurgitation, abdominal aortic aneurysm,
cardiac dysrhythmia.

Question 8

Complications

Answer 8

Cardiovascular symptoms with mitral valve prolapse
occular issues = myopia, cataracts, retinal detachment, lens dislocation,spontaneous pneumothorax
headache/back pain from dural sac widening

Question 9

Prognosis

Answer 9

The main cause of death is cardiovascular disease and other vascular complications.

Early use of propranolol and new surgical procedures are improving this prognosis = 72 years.

Patients with Marfan’s syndrome requiring surgery during childhood have a relatively favorable long-term outcome