A person with Marfan syndrome will usually be characteristically tall and slim, with lax joints. This heritable disorder of connective tissue is due to a mutation in the gene for fibrillin, located on chromosome 15. Fibrillin is an important protein component of blood vessel walls, eyes, tendons and ligaments, and lung. Marfan syndrome is therefore diagnosed when classical signs of weakness in at least two systems (heart, eyes, skeleton) are found. Diagnosis is made on the basis of family history, physical examination including slit lamp examination for possible dislocated lens, and echocardiogram. Linkage to the gene on chromosome 15 may be studied if affected family members in two generations are available.

Complications may arise, but it is important to note that the range of complications caused by Marfan syndrome, and their severity, varies considerably between individuals. These complications may include:

Cardiovascular
Aortic aneurysm, aortic dissection (tears in the wall of the aorta), and mitral valve prolapse sometimes requiring surgical repair. For this reason, each person suspected of this diagnosis should have an echocardiogram (a harmless ultrasound picture of the heart and big blood vessels)

Skeletal
Scoliosis (curvature in the upper thoracic spine) or kyphosis (forward bending curvature in the spine) and possibly loose painful joints.

Eyes
Myopia (shortsightedness), dislocation of the ocular lens, retinal detachment, glaucoma.

Lungs
Pneumothorax (collapse of lung due to air leaking from the lungs into the chest cavity), bronchiectasis and emphysema.

Each family has different manifestations.

Inheritance patterns
Autosomal dominant inheritance, with one affected parent in seventy-five per cent of cases .In twenty-five per cent of cases the condition occurs as the result of a new spontaneous mutation in the causative gene on chromosome 15.

Prenatal diagnosis
For those who wish to seek prenatal diagnosis, this may be performed by linkage if a large family with other affected members is available for study, or by mutation identification, if the mutation has been identified in the affected parent. Prenatal diagnosis should be discussed with a geneticist prior to pregnancy.

Medical text written November 1991 by Contact a Family. Approved November 1991 by Professor M Patton, Professor of Medical Genetics, St Georges Hospital Medical School, London, UK and Dr J E Wraith, Consultant Paediatrician, Royal Manchester Children's Hospital, Manchester, UK. Last updated July 2002 by Dr M Briggs, Occupational Health Physician, Hove, UK.

Further Online Resources
Medical texts in The Contact a Family Directory are designed to give a short, clear description of specific conditions and rare disorders. More extensive information on this condition can be found on a range of reliable, validated web sites and links to them are included in the CD-ROM version of this Directory. Further information on these resources can be found in our Medical Information on the Internet article.

MARFAN ASSOCIATION UK

Marfan Association UK
Rochester House
5 Aldershot Road
Fleet
GU51 3NG
Tel: 01252 810472
01252 617320 (answerphone)
Fax: 01252 810473
e-mail: marfan@tinyonline.co.uk
Web: http://www.marfan-association.org.uk

The Association is a National Registered Charity No. 802727, established in 1984. It offers support, advice and encouragement for patients and their families, undertakes meetings for patients and the many medical specialists associated with the care of a patient with Marfan Syndrome, and actively undertakes and participates in Marfan research. It publishes a twice-yearly magazine "In Touch" and has a wide range of information available, details on request. The Association represents over 1,600 affected families offering "Support for Today With Tomorrow in Mind".

Group details last updated February 2008.

Further support for young people with Marfan syndrome is available from CRY -Cardiac Risk in the Young (see entry, Heart Defects)