MarfanLife.net | News blog

Newswise: 20th Annual National Marfan Foundation Conference, July 7-10, 2004: “An early diagnosis and the necessary medical treatment interventions such as medications to lower blood pressure can save a person’s life,” said Dr. Siegel. “If people have signs of the Marfan syndrome, they should speak with their doctor.”

Boston.com / News / Boston Globe / Living / Arts / ‘We want him to be totally normal’: “Other than being taller than most of his playmates, third-grader Henry Floyd blends in easily whether in a schoolyard kickball game or a neighborhood touch-football scrimmage, which on a sunny spring afternoon attracts a group of roughhousing boys eager to practice their best Tom Brady and Tedy Bruschi moves.”

TheBostonChannel.com - HealthBeat - Show To Raise Awareness About Deadly Disorder: “BOSTON — When the curtain raises on the show ‘RENT’ Tuesday at the Wang Center, some local families are hoping it will also raise awareness about Marfan’s syndrome — a disorder of the connective tissue that could lead to sudden death. ”

“Yamil, 4, is one of those at risk. When he was just 18 months old, his mother recognized he was growing disproportionately, with extra long arms and legs.

“We went to look for Easter shirts and there were no shirts in his size that would reach the appropriate length for his arms,” Yamil’s mother, Suzanne Kouri, said.

AxisofLogic/ Mutant human stem cell lines created  “‘This is a significant advance for the field,’ says Leonard Zon, president of the International Society for Stem Cell Research (ISSCR), speaking to Associated Press. ‘We may learn a lot about the biology of basic diseases by having those lines available.’” … “The flawed ESC lines developed also include mutations that cause Marfan syndrome, myotonic dystrophy, neurofibromatosis type 1, Fragile X syndrome and Fanconi anaemia.”

Sports: FSU basketball freshman dies: “Police found no indications of foul play and medical examiner Stephen Sarbeck said an aneurysm ruptured [Ronalda Pierce’s] aorta, the large blood vessel that carries blood away from the heart. The police investigation will remainuntil a final report is issued from the coroner’s office.
‘It could be Marfan or a Marfan-like (condition), but it could be other things, too,’ Sarbeck said. ‘We have to rule out other conditions with other testing - toxicology, tissue studies, microscopic studies. It’s going to take four to six weeks.’”

The Right Workout for Those With Congenital Heart Defects: “Children, teens and young adults with genetic heart disease can exercise recreationally but need to get advice from their doctors about the kinds of physical activity that are safe, a new American Heart Association scientific statement recommends.

The statement, published in the June 7 issue of Circulation, is meant to help doctors counsel patients who have an increased risk for sudden death while they’re doing physical activity.
This includes people with a number of kinds of genetic heart disease such as: hypertrophic cardiomyopathy; arrhythmogenic right ventricular cardiomyopathy; Marfan syndrome; and ion channel diseases, including long QT syndrome, Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia.”