Features of Marfan syndrome:

Tall, thin stature - Long fingers - Unusually long arms and legs - Curvature of the spine (Scoliosis) ~ Chest bone that sticks in or out ~ Flexible joints ~ Crowded teeth ~ Nearsightedness ~ Dislocated lenses ~ Stretch marks (not due to pregnancy) ~ Collapsed lung ~ Aortic dilation ~ Aortic dissection ~ Mitral valve prolapse ~ Leaking valves in the heart

Editorial comment — Bachet 28 (2): 283 — European Journal of Cardio-Thoracic Surgery

July 31st, 2005 by Jeanette

Editorial comment — Bachet 28 (2): 283 — European Journal of Cardio-Thoracic Surgery: “The article concerning acute type A dissection in pregnant Marfan patients published in the present issue of the EJCTS reflects, through the report of four cases observed over a period of 12 years, the yet often unresolved difficulties entailed by this accident and raises important questions related to its obstetrical and surgical management.”
This is only part of an editorial (you have to pay $25 for the full thing unless you have a paid subscription), but you can get a good idea of what he’s saying if you read the bit that’s available for free. Very good.

Posted in News stories, Research, Treatment | No Comments »

BBC NEWS | Beta-blockers ‘blot out memories’

July 30th, 2005 by Jeanette

BBC NEWS - Beta-blockers ‘blot out memories’: “The drug has been shown to interfere with the way the brain stores memories.”

Posted in News stories, Research, Beta blockers | No Comments »

Sudden Killer

July 28th, 2005 by Jeanette

ScienCentral: Sudden Killer: “Ruptured aneurysms kill 30 thousand Americans each year, and unfortunately, many people don’t find out they have one until it’s too late.But this ScienCentral News video explains how one woman’s [Carmela Kolman’s] rescue led to countless other lives being saved.”

Posted in News stories, Marfan individuals, Includes photo(s), Video with article | No Comments »

Scientists have identified the first genetic mutations that cause the aorta to widen, tear and rupture

July 26th, 2005 by Jeanette

Scientists have identified the first genetic mutations that cause the aorta to widen, tear and rupture: … “The TGFBR2 pathway has long been studied in relation to cancer. Inactivation of the pathway has been shown to contribute to tumor formation and growth. Milewicz said the mutations connected to aortic aneurysm were not associated with cancer in the families studied. None of the families had symptoms of Marfan syndrome, a connective tissue disease that leaves its victims susceptible to aortic aneurysm and dissection..”

Posted in News stories, Research | No Comments »

Time to get physical

July 25th, 2005 by Jeanette

Bismarck Tribune Online - Bismarck, ND: “Many young athletes have spent their summer months going to camps and training to increase their performance level before the sports season begins. Between running sprints, pumping iron and practicing drills, athletes have to get a sports physical in order to play.

Over the years, sports physicals have evolved into a more in-depth and precise method to ensure that athletes are in good health. The checkup has evolved from a simple questionnaire to a more detailed discussion between the doctor and athlete.”

Posted in News stories, Sports | No Comments »

Scientific American.com: Beating a Sudden Killer [aneurysms]

July 25th, 2005 by Jeanette

Science & Technology at Scientific American.com: Beating a Sudden Killer: “When a young woman nearly died from a ruptured aneurysm, the author and the woman’s husband began searching for ways to save other aneurysm patients from catastrophe”
Note: It costs $5 to buy the online issue of this Scientific American magazine unless you are an online subscriber (at $39.95). The $5 fee is about the same price as buying the magazine (August 2005) at the newsstand, which was what I did. The young woman featured in the article, Carmela Kolman, has the Marfan syndrome.

Posted in News stories, Marfan individuals | No Comments »

Heart surgery changes game for Lakers’ second-round pick

July 24th, 2005 by Jeanette

Heart surgery changes game for Lakers’ second-round pick:
“Ronny Turiaf was getting ready to make his pro basketball debut with the Los Angeles Lakers. He signed a contract last week. Then he took a team physical.”

“The two most common factors that lead to sudden cardiac deaths are hypertrophic cardiomyopathy, or an enlargement of the heart muscle; and Marfan’s syndrome, which often leads to a weakening of heart valves. When a person overexerts, those conditions can be fatal.”

Posted in News stories, Sports | No Comments »

NWA WorldTraveler | Growing Strong

July 18th, 2005 by Jeanette

NWA WorldTraveler | Growing Strong: “Long legs, long arms, long body�even long fingers. Little Haley Dostalik, age 5, sounds like a basketball coach�s dream.

In this rare case, however, it�s actually a concern. Haley, who lives in Urbandale, Iowa, with her parents, Martin and Kari, and 7-year-old brother, Adam, has Marfan syndrome. ”
[snip!]
“Northwest Airlines created the KidCares medical travel program as part of its AirCares charitable assistance commitment. KidCares provides air travel to children 18 and younger (and one parent or guardian) who are unable to receive treatment in their home area. Donated WorldPerks miles are used to provide this free air travel.”

Posted in News stories, Marfan individuals, Includes photo(s) | No Comments »

Osteoporosis and Marfan

July 3rd, 2005 by Jeanette

Abstract: Osteoporosis in adult with Marfan syndrome: casuality or causality?: “Marfan syndrome (MFS) is an inherited connective tissue disorder transmitted as an autosomal dominant trait. Recent studies indicate that decreased bone mineral density (BMD) occurs in the spine, femoral necks and greater trochanters of some adults and children with MFS. Since there is uncertainty regarding the BMD status of patients with MFS, the authors present a case report on a female patient with MFS and alteration of phosphocalcic metabolism.”

The full text in .pdf format can be found here

Other current articles about osteoporosis and the Marfan syndrome are:

Posted in News stories, Research | No Comments »

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