Links to general information about the Marfan syndrome

Healthopedia's entry for Marfan syndrome written in plain English!
Search MedLine for abstracts of articles in the medical literature
(Use the term Marfan to search)
Your Genes Your Health Video clips about the syndrome from the DNA Learning Center, Cold Spring Harbor Laboratory
What is the Marfan syndrome? a visual tour from the Children's Heart Institute
Marfan syndrome from the National Center for Biotechnology Information
Marfan syndrome from the Online Mendelian Inheritance of Man (OMIM) database
Pediatricians' Health Supervision for Children with the Marfan Syndrome from the American Academy of Pediatrics
Marfan syndrome from Genetic Drift
The revised diagnostic criteria for the Marfan syndrome (1996)

Miscellaneous Marfan links

Links to Information About Specific Aspects of the Marfan Syndrome

FIBRILLIN:

The Elastic Fiber Homepage
Mini review of the fibrillin family (from the Elastic Fiber Homepage) (includes a good paragraph on Marfan)
Fibrillin-I from OMIM

MEDICATIONS SOMETIMES USED IN THE MARFAN SYNDROME

Selective beta blockers:

Atenolol (Tenormin, Noten, Anselol, Tenlol)
Betaxolol (Kerlone)
Bisoprolol (Zebeta)
Metoprolol (Lopressor, Betaloc, Minax)

Non-selective beta blockers:

Carteolol (Cartrol)
Nadolol (Corgard)
Penbutolol (Levatol)
Pindolol (Visken, Barbloc)
Propranolol (Inderal, Deralin)
Timolol (Blocadren, Tenopt, Timoptol, Timpilo@, Timoptol-X)
Labetalol (Normodyne, Trandate, Presolol)

ACE Inhibitors:

Captopril (Capoten, Acenorm)

Blood thinning medication for use after heart valve replacement:

Warfarin (Coumadin, Marevan)

Eyedrops:

Pilocarpine (Pilostat, Isopto Carpine, Neutral Pilocarpine Eye Drops, Ocusert-Pilo, Pilocarpine, Pilopt, P.V. Carpine, Timpilo@)

IMAGES:

Diagram of mitral valve prolapse
Quicktime video: Echocardiogram of aorta of patient with Marfan Syndrome and mitral valve prolapse
Quicktime video: Echocardiogram of a patient with Marfan syndrome. The ascending aorta is dilated. The mitral valve prolapses during ventricular systole.
Still from an echo of mitral valve prolapse

MARFAN EYES:

Ectopic lentis, subluxated lenses and dislocated lenses are different words for the same condition.

Ectopia Lentis from OMIM
Johns Hopkins Center For Hereditary Eye Disease An International Referral Center for Genetic Eye Diseases and Ocular Diseases of Childhood
Dr. Irene Maumanee Hussels Professor of Ophthalmology, Professor of Pediatrics, Wilmer Eye Institute, Johns Hopkins
Abstract from MedLine: Contact lens correction of patients with Marfan Syndrome (by Young and Weissman)
Marfan's [sic] Syndrome Ocular Times (written by an ophthalmic technician; has a good illustration of dislocated/subluxated lenses and good general Marfan eye information.)

SCOLIOSIS:

Scoliosis Can Be Treated (from Kid's Health)
Scoliosis Treatment - provides photographs and x-rays to illustrate text discussion. Details newer surgical procedures including endoscopic surgery, from Childrens Hospital, Oakland, CA and Kaiser Permanente Hospital, Oakland CA
Scoliosis Mailing List
Copes Foundation (For bracing and nutrition as an alternative to surgery)
spineuniverse.com

PNEUMOTHORAX:

PECTUS EXCAVATUM:

Pectus excavatum, sometimes known as "funnel chest," is a condition in which the breast bone appears to be sunken.

What is Pectus Excavatum? from Johns Hopkins
The Nuss Procedure for Pectus Excavatum An orthopedist familiar with Marfan syndrome suggests that perhaps this new procedure for reversing pectus excavatum may be helpful in some Marfan syndrome children.
UNC Surgeons Correct "Funnel Chest" With New Surgery (another article about the same procedure)

PECTUS CARINATUM:

Pectus carinatum, sometimes known as "pigeon chest," is a condition in which the breast bone sticks out.

Pectus carinatum (definition and description, from ThirdAge / ADAM.com)
Pectus excavatum and pectus carinatum information from UCLA
Here is a graphic page showing and discussing surgical procedures for pectus excavatum and pectus carinatum This surgery may or may not be indicated for people with the Marfan syndrome. Please understand that people with the Marfan syndrome may have additional worries to take into consideration.

DURAL ECTASIA:

From the NMF's Orthopedic concerns page: "Dural ectasia. A finding more unique to the Marfan syndrome is swelling or ectasia of the spinal cord sac (dura). This occurs because the spinal cord sac cannot withstand the pressure of the spinal fluid. If swelling occurs, it is frequently in the lower part of the lumbar or sacral spine. Sometimes, the enlarged sac will actually press into adjacent spaces, such as the pelvis. Symptoms of dural ectasia include low back ache and a burning sensation, numbness or weakness in the legs. The symptoms resemble any back ache; however, enlarged dura can be seen on magnetic resonance imaging (MRI)or computed tomography (CT).

For treatment, spinal shunting or medication may help in severe cases. It is best to leave mild cases alone."

Here's an article about dural ectasia and the Marfan syndrome: Dural ectasia and the Marfan spine Dr. Nicholas Ahn, Dr. Paul Sponseller, et al, March 30, 2001.

Click here for two descriptions of dural ectasia from members of Marfan-List.

NUTRITION AND HEALTH:

Please keep in mind that the doctors on the Professional Advisory Board of the National Marfan Foundation do not seem to believe there are links between nutritional intake and the severity of Marfan symproms. Some of us patients who live with the disorder, however, believe there may be.