MarfanLife.net | News blog

Aortic Regurgitation - Health
The aorta is the main blood vessel through which oxygenated blood passes from the heart to the body. In aortic regurgitation (also known as aortic insufficiency), the walls of the aortic are weakened, causing them to stretch or balloon out under the pressure of blood as it’s pumped from the heart. If the condition occurs in the portion of the aorta leading from the heart, it is called an aortic root aneurysm.

What is the Marfan Syndrome? Good question. Here is a brief definition of the Marfan Syndrome from the National Marfan Foundation’s excellent web site.

The Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In the Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, the Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin and lungs.

The Marfan syndrome affects men, women and children, and has been found among people of all races and ethnic backgrounds. It is estimated that at least 1 in 5,000 people in the United States have the disorder.

The Bristol Press - News - 03/06/2005 - Debunking myths about Marfan Syndrome “… Often thought of as a tall person’s affliction, “the first of many misconceptions about the illness is that height is in no way a criteria for Marfan Syndrome,” Silverman said. “I’ve met many who are short.The ratio of upper torso to lower body is a criteria, but tallness doesn’t have any thing to do with it.”

“The syndrome is named for its discoverer, Antoine Marfan. It is an inherited disorder but the gene that is responsible for Marfan is complex, and produces a significant number of small mutations. …”

Marfan syndrome not simple to diagnose: “Q: I saw a television special about Marfan syndrome and now think my 11-year-old daughter might have it because she has many of the traits described. How can I put my mind at ease? Is there a test for this?”

Yale: Congenital Heart: Marfan’s Disease: “Small retrospective studies suggest an increased risk of aortic dissection in women with Marfan’s syndrome who become pregnant. In women with preconception aortic dilation, greater risk is due to the changes of cardiac output and plasma volume that occur by the 6th week of pregnancy and the increased stress during labor. Vaginal delivery is acceptable in patients with Marfan’s and epidural anesthesia may be helpful in lowering the blood pressure at delivery. However if the aortic root is greater than 4 cm a cesarean section should be considered.” … continued (click link above).
This page has a good diagram of heart, animation and echos

The Marfan Trust The Marfan Trust was set up in November 1988 in London to fund research into the cause and possible prevention of Marfan Syndrome and to assist with patient support.

Guardian Unlimited | Special reports | What does your body shape say about you?: “As well as indicating your risk of illness, your body shape can sometimes alert you to a condition you already have. People with Marfan’s Syndrome, for example, are often not diagnosed until their illness, which causes a problem of the connective tissues, affects the heart and becomes life-threatening. But they may for many years have exhibited the tell-tale features of the condition, which affects one in 5,000 people in the UK: long limbs, a slim build, very long fingers and toes. “

Okay, this is not about the Marfan syndrome. However, it is about the husband of Ellen England, who is very active in the Marfan syndrome community. I would be posting this reminder on Marfan-List, but the List is down right now and for the foreseeable future. (It should be up this weekend, but it’s hard to tell. When Isabel came through here in Virginia last year, some places were without power for two weeks). In any case, Monday, September 13, Bruce England will be on Jeopardy, so all of you who know him from NMF conferences and Northern California Chapter cookouts, be sure to watch!