Question

Marfan Syndrome

A 20-year-old female has been followed for high myopia by her optometrist for many years. She is nearly six feet tall and at an employment physical she was referred for evaluation for possible Marfan syndrome. She has been on the internet and is now worried about aortic dissection and wants to know what interventions are available to prevent and treat the life threatening complications of Marfan syndrome.

1. What gene is mutated in Marfan syndrome and where in the genome is the gene located? (2 pts)
2. Name the protein altered by this mutation and how does this altered protein produce the symptoms observed for Marfan syndrome? (4 pts)
3. Is Marfan syndrome inherited recessively or dominantly? (2 pts)
4. Since the patient is a female, would it be wise to advise extreme caution with pregnancy? Explain. (3 pts)
5. What interventions are available to prevent and treat the life threatening complications of Marfan syndrome? (4 pts)

Answer 1

INTRODUCTION:

MARFAN SYNDROME: It is an inherited disorder that affects connective tissue. It mainly effects the heart, eyes, blood vessels and bones.

a) GENE MUTATION IN MARFAN SYNDROME

- Mutations in the FBN1 gene causes Marfan syndrome.

- The genome is located on chromosome 15.

PROTEIN ALTERED

- The FBN1 gene provides instructions for making a Protein called fibrilin-1.

- Fibrilin-1 attached to other fibrilin-1 proteins and other molecules to form threadlike filaments called microfibrils which is essential for the formation of elastic fibres found in connective tissue.

- Due to defect in this gene connective tissue loses its elasticity and strength.

- Due to loss in strength and elasticity patients often complaints pain in the neck and many of the body parts.

b)INHERITANCE

- Marfan syndrome is inherited in families in an autosomal dominant manner.

- Seventy-five percent of individuals who have Marfan syndrome have a parent who also has the condition (inherited).

c) CAUTION WITH PREGNANCY

- since she is a lady patient, she has to take extra care on this condition if she is planning for conception, because pregnancy creates extra stress on the heart and blood vessels.

- The biggest concern for patients with Marfan syndrome is serious complications of the aorta.

- such as a tear or rupture that can cause death or serious injury to both the mother and unborn baby.

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PREVENTION AND TREATMENT

- There is no cure for Marfan syndrome.

- Treatment focuses on preventing the various complications of the disease.

- You will need to be checked regularly for signs that the damage caused by the disease is progressing.

Depending on signs and symptoms, following procedures can be done.

- Aortic repair

- Scoliosis Treatment

- Breastbone correction

- Eye surgeries