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Title: Marfan Syndrome
Post by: Adminஐﻬ on November 28, 2007, 06:25:55 pm
Clinical trial of drug for Marfan's Syndrome calls for volunteers



Children born with Marfan syndrome, a genetic disorder involving the connective tissue, have a variety of physical signs - disproportionately long arms, legs, fingers and toes; scoliosis or other spinal curvature; nearsightedness; unusually large lungs; and stretch marks on the skin. But one of the most dangerous effects of the disease is the development of an enlarged aorta, which can lead to rupture of the heart's largest artery and to sudden death.

In patients with Marfan syndrome, the aorta, the large artery that carries blood away from the heart to the body, stretches and enlarges so much that it develops a tear, or dissection, that blocks blood flow or eventually bursts. About 90 percent of all patients with Marfan syndrome will need aortic surgery in their lifetime to repair the enlarged aorta, called an aortic aneurysm.

Researchers at Washington University School of Medicine in St. Louis are seeking volunteers, ages 6 months to 25 years old, for a three-year clinical trial of a drug that has been shown to prevent the development of aortic aneurysm in mice. The drug, losartan (brand name Cozaar), lowers the activity of the protein transforming growth factor beta (TGFß), which researchers have found to be the likely culprit in the physical effects of Marfan syndrome.

Losartan is commonly prescribed for high blood pressure and has been shown to be safe for children and adults with few side effects, said Angela Sharkey, M.D., co-principal investigator of the trial at the School of Medicine and director of the Marfan Syndrome Clinic at St. Louis Children's Hospital.

"Losartan works to alter the extracellular matrix or support structure for the aorta," said Sharkey, associate professor of pediatrics. "In studies performed in the laboratory of Dr. Hal Dietz at Johns Hopkins School of Medicine, losartan was given to mice with Marfan syndrome, and in these animals, the size of their aortas actually normalize."

Marfan syndrome affects about 1 in 5,000 individuals. Most patients with Marfan syndrome are given beta blockers to lower blood pressure and stress on the aorta. Before the use of beta blockers, patients had a life expectancy of 45 years. Since beta blockers and elective surgical repair of aortic aneurysms have become the standard of care, patients have a life expectancy of 70 years.

While beta blockers can slow the growth of an aortic aneurysm, they only delay eventual surgery. Sharkey said the trial seeks to determine if losartan will eliminate the need for surgery in patients with Marfan syndrome.

"We know that a beta blocker will delay surgery, but if we can find a means to prevent surgery, that would be the greatest scenario," she said. "The potential benefits to the body are profound."

In the randomized trial, half of patients will receive a beta blocker drug and half will receive losartan. Patients must have no history of asthma or previous aortic surgery and have no other genetic syndrome other than Marfan syndrome. Children will be seen at the Marfan Syndrome Clinic at St. Louis Children's Hospital, headed by Sharkey. Adults with the disorder will be seen at the Barnes-Jewish Hospital Marfan Clinic, headed by Alan Braverman, M.D., co-principal investigator of the School of Medicine study and professor of medicine at the School of Medicine.

The trial is funded by the National Heart, Lung, and Blood Institute of the National Institutes of Health and the National Marfan Foundation.


For more information about the trial or how to participate, call Cheryl Rainey, study coordinator, at (314) 454-6095, or visit www.marfan.org.  


Title: Re: Marfan Syndrome
Post by: Adminஐﻬ on November 29, 2007, 10:15:18 am
Lincoln had cancer, doctor theorizes
16th president might have had cancer, doctor theorizes



Maybe it's the classic story about the underdog who strives to be great. Perhaps it's the sad eyes of the first president to be assassinated. Whatever the reason, Abraham Lincoln has become a figure who is scrutinized and speculated on over and over again.

Some have speculated that Lincoln suffered from depression, had syphilis or was gay. Others wonder why Lincoln was so tall and lanky.

And now Dr. John Sotos, a California cardiologist dubbed by some as a "medical sleuth," is theorizing that the 16th president was dying from cancer, with only six months to a year to live, from a rare genetic syndrome known as MEN 2B.

Sotos spent Wednesday at Johns Hopkins Hospital sharing his findings. For years, some doctors have believed Lincoln had Marfan syndrome, which affects the body's connective tissue and causes long limbs.

"With Abraham Lincoln, he was tall; he was very big," said Charis Eng, a genetics cancer expert at the Cleveland Clinic. "It looked like he had [Marfan syndrome]."

But the medical puzzle becomes only more complicated. Eng said Lincoln's height and long limbs could be a clue that the diagnosis was something else. With MEN 2B, "patients look as if they have Marfan's, even though they do not," said Eng, who discovered the gene while at the University of Cambridge during the early 1990s.

Instead, Lincoln suffered from MEN 2B, which Eng called "quite rare." Sotos said the syndrome makes bumps, or benign tumors of nerve tissue, grow on victims' lips. About one person of every million has the disease, he said.

The syndrome also causes cancer in organs, like the thyroid, that produce hormones, and Sotos said he believes Lincoln was dying of cancer when he was shot in 1865.

Sotos said he looked at 130 Lincoln photographs as well as plaster face and hand masks taken of Lincoln that are stored in the National Portrait Gallery. Sotos said the bumps on Lincoln's lips are clearly visible.

It was also well-known that Lincoln was often constipated. With MEN 2B, the same lumps on the lips and cheeks can also grow inside the intestines, causing gastrointestinal problems.

The signs that Lincoln was dying of cancer are there, too, Sotos said, from Lincoln's weight loss to his crippling headaches to his cold hands and feet. "We don't have the smoking gun for cancer, but again, everything seems consistent with it," Sotos said.

MEN 2B ran through the Lincoln family line, Sotos said. There's too much coincidence that two of Lincoln's sons, had the same lesions on their lips, as seen in photographs, and died at young ages, Sotos said.

Eng said the controversial new theory sounded possible, and the doctors at Johns Hopkins listened to Sotos' findings with interest.

But some numbers don't add up, as even Sotos acknowledged. Lincoln was 56 when he was shot in Ford's Theatre, which is old for someone suffering from MEN 2B. Most with the syndrome develop cancer in their 20s and die about 10 years later, although no large medical studies have thoroughly examined the age connection with MEN 2B.

A DNA test has a 95 percent chance of answering his medical question, but no tests are planned yet. "It's certainly a possibility," Sotos said. "The people who have control have the artifacts" -- Lincoln's blood and brain tissue.

Some, like Illinois state historian Thomas Schwartz, welcome academia's fascination with Lincoln. "If we don't have intellectual curiosity about the world around us and constantly ask the fundamental questions again and again," Schwartz said, "we're not engaging in the world around us."



*Abraham Lincoln's health has been scrutinized in recent decades, as some scientists have sought to show that he inherited a genetic ailment called Marfan syndrome. It can lead to a gaunt frame, slender fingers and internal bleeding.[/size]


Title: Re: Marfan Syndrome
Post by: Adminஐﻬ on January 14, 2008, 01:08:29 pm
Club walks tall with vertical pride Local chapter on lookout for recruits

January 13, 2008

As the towering cluster of baby boomers walks down the street, members of the height-challenged public inevitably stare up at them.

"Wow, how tall are you?" some bold stranger will ask. "Do you play basketball?" a wise guy will wonder.

Eventually, some astute observer will ask the right question: "Are you a club or something?"

At this, members of the Sacramento Tall Club smile knowingly.

"Well, yeah," they say. "We are."

Humankind's perennial quest for identity leads seekers to find commonality in everything from chess clubs to church groups. But for 25 years now, Sacramento's Tall Club members have forged a different sort of bond.

They march in Christmas parades carrying signs that say, "Altitude is everything."

They raise funds for Marfan syndrome, a connective tissue disorder that primarily affects tall people.
They sponsor a giraffe at the Sacramento Zoo – "Have you ever heard of a tall monkey?" quips club President Harry Leman.

If they're at a Home Depot or a grocery store, and they happen to see a potential recruit, they pull out a giraffe-emblazoned business card, then approach.

Prospective new members measure in their stocking feet, and must reach the height standards prescribed by Tall Clubs International – 5 feet 10 inches for women, 6-foot-2 for men. (One particularly exclusive club in Los Angeles has reportedly increased its minimum requirements by 2 inches).

Because people are slightly taller in the morning than in the evening, the Sacramento club holds quarterly brunches to do morning measurements for those wobbling close to non-tallness.

"We try to accommodate everyone," Leman says, though they inevitably have to turn away some disappointed non-talls.

Cindy Riddles, the Tall Club's social coordinator, was thrilled when she learned of its existence eight years ago.

Riddles has been 5-foot-11 since the seventh grade. Back then, she says, you could have pulled her teeth out before she'd tell you her shoe size (12).

By the time she reached the half-century mark, she'd pretty much accepted her height. Pretty much. But still, how appealing to find a group of people who could relate to stores carrying too-short pants and too-small shoes, to cramped airplane seats and the perpetual shortage of height-eligible men and that annoying, always-asked question about your basketball ability.

(A standard Tall Club retort: Do you play miniature golf?)

So Riddles drove up from Stockton with her former sister-in-law. Standing next to a 6-foot-2 woman or a 6-foot-7 man, she felt almost short.

She's never looked back.

According to the Tall Clubs International Web site, the first tall club came into being around 1938, when a young Disney artist named Kae Sumner wrote a story in the Los Angeles Times about the challenges of being tall. Today, there are 55 such clubs in the United States and Canada. They advocate on tall issues, hold tall conventions and choose a Miss Tall International.

The Sacramento club, its members say, is one of the biggest. But in recent years, the organization has had trouble recruiting new members. To address this concern, Riddles, as social coordinator, has stepped up the number of events. These include a Liver Lovers' party, a Gold Rush-themed casino night, happy hours at El Torito and weekly ballroom dance lessons.

This past Friday night, a dozen or so members gathered for a fox trot lesson at Cafe Capri in Carmichael. Their 5-foot-1-inch instructor, Mira Trousdale, was hard to spot as she wandered among the couples, helping with rhythm and footwork. During a break, the dancers sat on barstools trying to calculate how many marriages had come out of the club. At least nine, they decided, though several more of the 100 or so members are dating each other.

Because age eventually chips away at even the tallest, some members were a bit circumspect about their height.

"Six foot 4 inches is on my driver's license," said Rich Marier, of Placerville, after his wife, Kimberly Berg, suggested a current measurement closer to 6-foot-2 or 6-foot-3.

Leman, the 59-year-old president, said he used to be 6-foot-5 but is now down to 6-foot-4. He's hoping his impending knee surgery will boost him back up a fraction of an inch.

The problem with recruiting new members, Leman and his friends determined, was that it's simply not so odd to be tall anymore.

"It's not unique," Leman said.

"It's not unique," Berg agreed. She has two sons and a daughter, all over 6 feet, all comfortable with it.

"When I was growing up, to be 6 feet tall, it was like I was a freak," she said.

Partly out of generosity, partly to increase tallness pride and tallness awareness, club members long ago started a fund to provide scholarships to tall students.

Each entrant must write an essay answering the question: "What being tall means to me."

"We can see above a large crowd," wrote one 6-foot-6 winner. "We get fresh air while the normals breathe the stifled, regurgitated oxygen. We can reach the top shelf!"

"Being tall means riding the first scary roller coasters at Great America before the rest of my friends," wrote another winner, a 6-foot-tall girl.

"Being tall is like being a superhero," concluded one 6-foot-2 boy. "You have to use your powers for good and not evil."


Title: Re: Marfan Syndrome
Post by: Adminஐﻬ on February 01, 2008, 12:25:35 pm
Elective Aortic Root Surgery in Marfan Syndrome Appears Safe and Durable


FORT LAUDERDALE, FL -- January 31, 2008 -- Surgery to repair and replace the aortic root in Marfan syndrome patients can be accomplished with little perioperative mortality and with durable results, doctors reported here at the Society of Thoracic Surgery 44th Annual Meeting.

"Aortic rupture or dissection is the most common cause of premature death among persons with Marfan syndrome," said Duke E. Cameron, MD, Professor of Surgery, James T. Dresher Sr. Professor, Director of Paediatric Cardiac Surgery, and Co-Director of The Dana and Albert "Cubby" Broccoli Centre for Aortic Diseases, Johns Hopkins University School of Medicine, Baltimore, Maryland, United States.

Marfan syndrome is the most common inherited connective tissue disorder. It shortens a person's lifespan by a third, Dr. Cameron said.

In his oral presentation on January 28, he presented the 30-year history of surgical treatment in 372 cases of Marfan syndrome at Johns Hopkins University. There were 265 males and 107 females, with about 13% of these being children. The mean age at surgery was 32.9 years.

"Elective prophylactic aortic root surgery has low operative risk and prevents the most common cause of premature death in Marfan syndrome," Dr. Cameron said.

Dr. Cameron said the main indication for surgery in Marfan cases is the expanded size of the aorta. Surgery is indicated for patients with aortas larger than 5.5 cm in diameter, family history of aortic rupture or dissection, acute or chronic dissection, rapid enlargement of the aorta greater then 1 cm per year, or progressive aortic insufficiency in a moderate aneurysm.

In the Hopkins case series, 72% of the repairs were performed with mechanical devices; 23% of cases were valve-sparring surgeries, and 5% of cases were used bioprostheses, he said.

All but 45 of the repairs were performed as elective surgery, Dr. Cameron said. Those 45 emergent cases also resulted in the only two deaths that occurred within 30 days of the surgical procedure, which represented 4.4% of urgent surgeries, 0.5% of the 372 cases reported.

In the newer valve-sparing cases, 8 of the 85 individuals experienced late grade 3 or 4 aortic insufficiency; 6 patients required aortic valve replacement; and two had late mortality. Overall 74 of the patients in the series died, 10 due to dissection or rupture of the residual aorta or iliac artery, and 9 due to arrhythmia; in 26 cases the cause of death was unknown.

A multivariate analysis determined that causes of late mortality were due to age (3% increased risk), which was, however, statistically significant (P =.002). Mitral valve surgery had an 85% increased risk (P =.039), and preoperative dissection had a 90% increased risk (P =.054).

Late morbidity included 19 cases of thromboembolism, endocarditis and coronary dehiscence. Three patients succumbed to endocarditis; one patient died due to dehiscence.


[Presentation title: Aortic Root Replacement in 372 Marfan Patients: Evolution of Operative Repair Over 30 Years. Abstract 2]


Title: Re: Marfan Syndrome
Post by: Adminஐﻬ on February 28, 2008, 01:42:10 pm
UCSF Opens Multidisciplinary Marfan Clinic

San Francisco, Ca~The UCSF Heart and Vascular Center has opened a clinic specializing in Marfan syndrome and related disorders as part of the new UCSF Program in Cardiovascular Genetics. The program, which is directed by geneticist Robert Nussbaum, MD, and genetic counselor Colleen Brown, is also inaugurating clinics in familial cardiomyopathies and in genetic arrhythmias.

The cardiovascular genetics program is an example of a growing trend: greater integration of the field of genetics into adult medicine. As the knowledge about genetic mechanisms of disease advances and new molecular tests and therapies are developed, geneticists and genetic counselors are moving from simply serving as consultants to becoming full partners with their colleagues in other medical subspecialties. Genetics in cardiology is one of the newest and fastest growing areas in medicine, and UCSF’s program is one of the first on the West Coast.

“This is an organized program where there is a high level of expertise in the diagnosis and care of these patients, and we can offer new therapies and treatments as soon as they are available,” says Nussbaum. “Also, with our emphasis on family outreach, the families receive the counseling and care they need. The entire family is our patient, not just the individual in front of us.”

Once the diagnosis is made in one person in a family, it is important to evaluate relatives for Marfan syndrome because they can develop life-threatening aortic aneurysms. Signs of the disease vary widely, and someone may have the mutation, but display few obvious signs. To make a definitive diagnosis, thorough evaluations are needed by doctors specializing in all the different parts of the body that Marfan syndrome can affect. This includes cardiology, ophthalmology, orthopedics and genetics. Echocardiography and genetic testing can also help make the diagnosis.



Marfan syndrome is caused by a mutation in the fibrillin-1 (FBN1) gene, which codes for an important component of connective tissue. The disorder affects the skeleton, eyes, nervous system, skin, lungs, heart and blood vessels. Many patients are exceptionally tall, slender, loose-jointed, and have long fingers and toes and a long, narrow face. Both orthopedic and eye disorders are common. The most life-threatening complications are the cardiovascular sequelae associated with Marfan syndrome, which may lead to aortic dissection, severe mitral regurgitation and heart failure.

Marfan Syndrome Characteristics

• Skeleton: tall; slender; loose-jointed; long, narrow face; long arms; long fingers and toes; scoliosis
• Heart: dilated aorta; defective valve between the left chambers
• Eye: dislocation of one or both lenses of the eye; myopia
• Nervous system: dural ectasia; weakened dura on lower spine, causing pain in the abdomen or pain, numbness or weakness in the legs

UCSF’s Marfan Clinic is unique because, in a single day, every patient receives a full evaluation and sees every relevant specialist. Each of these assessments contributes to the diagnostic evaluation. The goal is to complete all relevant evaluations in a coordinated and integrated fashion, so that families leave the hospital with a diagnosis and comprehensive medical plan.

“It can be a huge burden and very overwhelming for these families when they have so many specialists to see,” says Brown.

Nussbaum and Brown work with referring physicians throughout the evaluation process and recommend that physicians refer patients to UCSF if they have any suspicion that their patients have Marfan syndrome or a disorder that resembles Marfan syndrome.

For more information about the Program in Cardiovascular Genetics, contact genetic counselor Colleen Brown at (415) 476-3202.


Title: Re: Marfan Syndrome
Post by: Adminஐﻬ on March 04, 2009, 04:56:23 pm
Sleep apnea more common in Marfan syndrome, may be risk factor for change in aorta
March 3, 2009

UK researchers thought that people with Marfan syndrome, a connective tissue disorder, might have a greater risk for obstructive sleep apnea (OSA). A person with OSA has trouble breathing during deep sleep. The researchers tested 61 people with Marfan syndrome and 26 people without it to see if they had OSA. The results showed that more people with Marfan syndrome had OSA.

A very serious problem in Marfan syndrome is that the aorta, the largest blood vessel in the body, can become wider than normal, which makes it weak and prone to tearing. The researchers used an ultrasound (echocardiogram) to measure the width of the aorta in the people in the study. They found that the aorta was wider in the people with OSA. This suggests that obstructive sleep apnea may be a risk factor for widening of the aorta.

Kohler, M., E. Blair, P. Risby, A.H. Nickol, P. Wordsworth, C. Forfar, & J.R. Stradling.
"The prevalence of obstructive sleep apnoea and its association with aortic dilatation in Marfan’s syndrome."

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