About Marfan Syndrome
Marfan Syndrome is a genetic Connective Tissue Disorder, discovered by Antoine Marfan, a French doctor, in 1896. Connective Tissue is the tissue that binds our bodies together.
Being genetic, 75% of Marfan patients have inherited the condition from a parent and 25% are new mutations. There is a 50/50 chance of passing the syndrome onto a child. It is a autosominal dominant genetic defect which means that it is passed directly from the affected parent and can not therefore skip generations.
There is thought to be a worldwide occurrence of 1:5000 people both male and female and of all races and ethnic groups affected by Marfan Syndrome or a related Connective Tissue Disorder.
Marfan Syndrome is known to affect the –
Cardiovascular System (Heart and Blood Vessels) - Aortic dilation or aneurysm; Aortic dissection; Mitral Valve Prolapse
Skeletal System (Bones and Joints) – Showing as longer than average arms and legs (armspan longer than height); tall and thin stature; Scoliosis or Kyphosis; Pectus Excavatum or Pectus Carinatum; Long, thin fingers and toes; Hypermobile joints; Flat feet; Overcrowding of teeth
Ocular System (Eyes) – Severe Myopia; Dislocated Lenses; Detached Retina. Glaucoma and Cataracts can also be found earlier than is the norm.
The following can also be found – unexplained stretch marks (Straie); sudden collapse of the lung; Dural Ectasia
What is Marfan Syndrome?
As stated above, Marfan Syndrome is a disorder of the Connective Tissue.
Connective tissue forms the glue between cells in the body's tissues, holding the cells together and giving those tissues structure and shape.It is made of a number of different molecules, including a range of fibres which give strength and elasticity to many tissues. This tissue provides the stretchy strength of tendons and ligaments around joints and allows the muscular blood vessel walls to expand and contract with every heart beat. It is also important in eye and lung. In Marfan Syndrome a protein called fibrillin is deficient or abnormal. Fibrillin is part of the elastic fibres, accounting for the unusual stretchiness and weakness of tissues. The fibres which hold the lens of the eye in place are made of fibrillin, so abnormal or deficient fibrillin explains the dislocation of the lens seen in Marfan Syndrome. A mutation/error in the fibrillin gene on chromosome 15 is said to be responsible for the diminished fibrillin production or production of abnormal fibrillin molecules which cannot function properly.