Marfan Syndrome

What is Marfan Syndrome?

Marfan syndrome is a disorder that affects connective tissues. Connective tissues are a group of tissues that maintain structure and support internal organs.

Children usually inherit from 1 of their parents
It can affect patients from mildly to severe
It is a rare condition, affecting 1 in 5000 people in the UK
It is one of the most common connective tissue disorders
Men and women are affected equally

What causes Marfan Syndrome?

Marfan syndrome is hereditary. In around 3 in 4 cases, it is inherited from 1 parent. Marfan syndrome is caused by a gene defect, which leads to reduced production of fibrillin. This results in patients being able to stretch abnormally when placed under any kind of stress. The gene defect also causes bones to grow longer than they should.

What are the symptoms?

Marfan syndrome can affect many parts of the body, including the skeleton, eyes, and cardiovascular system.

Chronic pain
Hypermobility
A high, arched palate
Pes Planus, Flat feet
Convex or Concave chest
Scoliosis
Spondylolisthesis
Dural ectasia
Vision loss, Myopia, glaucoma, cataracts, retinal detachment
Cardiovascular concerns, aortic rupture, AAA, Valve insufficiency

Can anything trigger the pain?

Certain sports and activities, can strain the heart and raising BP + HR.

Imaging In Diagnosis

MRI Imaging is used, to observe if a patient has the major criteria to be diagnosed with Marfan Syndrome. The aorta and blood vessels will be examined and the referer will look to detect dural ectasia.

The major criteria can include :

An enlarged aorta
Aortic Dissection, A tear in the aorta
Dislocation of the lens of the eye
Skeletal conditions, such as scoliosis
Dural Ectasia, the enlargement of the ling that surrounds the spinal cord

Marfan Syndrome

What are the symptoms?

Can anything trigger the pain?

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A patient's Experience