A Family Doctor's Tale - MARFAN'S SYNDROME

DOC MY CHILD HAVE MARFAN'S SYNDROME


Marfan's Syndrome is an inherited disorder of the connective tissue as a result of a defective  gene called fibrillin-1.

This gene causes defects involving the the collagen and glyccosaminoglycans tissue.

It is characterized by generally weak connective tissue which includes

1.muscles, ligaments and bones.

2.lung tissue

3.the heart and aorta

4.the eyes

5. the skin

6.the meninges

The Causes of Marfan's Syndrome are:
It is an inherited disease caused by an autosomal dominant gene.

Inheritance is passed to 50 per cent of offspring if one parent is affected and 100 per cent of offspring if both parents are affected.

Marfan Syndrome can also occur from mutation of the genes in 30 per cent of cases.

The symptoms of Marfan's Syndrome are:
Symptoms:
1.Long slender extremities with arm span exceeding height and long tapered fingers (also called spider fingers)


2.Skeletal deformities include:
a.kyphoscoliosis


b.pectus excavatum

c.pigeon chest

d.long narrow face


e.high arched palate


f.pronathism

3.Lax ligaments resulting in:
a.hyperflexiblity of joints


b.easily strained ligaments and joints


c.flat feet

4.Eye problems:
a.dislocation of lens due to lax ligaments


b.myopia

5.Heart problems:
a.dilatation of aorta and aortic aneurysm


b.dilatation of pulmonary artery

6.Learning disabilities

Diagnosis of Marfan's Syndrome is often based on
1. medical examination and  appearance

2. measurement of metacarpal index from X-rays
Ratio of length to midpoint width is greater than 8.5

3.Urinary hydroxyproline is excessive indicating increased collagen turnover

4. Genetic analysis

5.ECG and echocardiogram

6.Eye examination and tests

The complications of Marfan's Syndrome are:

1. dissecting aortic aneurym may cause death

2.collapsed lungs

3.retinal detachment

4.heart valve problems

Marfan Syndrome patients generally have a shorter life span because of skeletal deformities and heart problems

The treatment of Marfan's Syndrome:
1.Genetic counseling

2.Prevention of joint strains especially spinal joints

3.Beta blockers can reduce aortic blood flow and prevent dilatation of aorta

4.Avoid competitive sports or strenuous physical activities

5.Antibiotic should be given to prevent endocarditis before any dental treatment

6.Pregnancy should be monitored carefully especially in the third trimester because of the strain on the heart

The prognosis of Marfan's Syndrome:
1.Shorter life span because of heart and skeletal problems

2. Good care and surgery treatment of the heart and eyes may extend the lifespan further.

Prevention of Marfan's Syndrome:


Genetic counseling and testing for Marfan's Syndrome