Marfan Syndrome News and Research

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Marfan syndrome is a condition in which your body's connective tissue is abnormal. Connective tissue helps support all parts of your body. It also helps control how your body grows and develops. Marfan syndrome most often affects the connective tissue of the heart and blood vessels, eyes, bones, lungs, and covering of the spinal cord. Because the condition affects many parts of the body, it can cause a number of complications. In some cases, the complications are life threatening.

Marfan syndrome is a genetic disorder. A mutation, or change, in the gene that controls how the body makes fibrillin causes Marfan syndrome. Fibrillin is a protein that plays a major role in your body’s connective tissue. Most people who have Marfan syndrome inherit it from their parents. If you have Marfan syndrome, you have a 50 percent chance of passing the altered gene on to each of your children. In about 1 in 4 cases, Marfan syndrome occurs because of a spontaneous mutation. Thus, the affected person is the first in their family to have the condition.

The aorta is torn apart in Marfan syndrome

A severe complication of the Marfan syndrome is that the aorta may split and be torn apart. The patient can be protected if the syndrome is diagnosed and treated in good time.

17 Jul 2008

Losartan shows promise in treating Marfan syndrome

A small study in 18 pattients assessing the effectiveness of the drug losartan for treating Marfan syndrome in children has yielded encouraging results.

25 Jun 2008

New minimally invasive procedure for torn aorta repair

Tears in the aorta which affect thousands of people each year coast to coast, may soon be treated with a much less invasive technique that could dramatically improve patients' chances of survival.

13 Dec 2007

New minimally invasive method to repair tears in the aorta

Tears in the aorta which affect thousands of people each year coast to coast, may soon be treated with a much less invasive technique that could dramatically improve patients' chances of survival.

10 Dec 2007

ACE inhibitor perindopril may help improve cardiac complications from Marfan syndrome

Preliminary research suggests that use of the ACE inhibitor perindopril, along with a beta-blocker, may help reduce cardiac measures such as aortic stiffness and dilation that are associated with the cardiac complications of Marfan syndrome, according to an article in the October 3 issue of JAMA.

3 Oct 2007

Scoliosis gene found

Physicians have recognized scoliosis, the abnormal curvature of the spine, since the time of Hippocrates, but its causes have remained a mystery -- until now. For the first time, researchers have discovered a gene that underlies the condition, which affects about 3 percent of all children.

26 Jun 2007

Largest review of Loeys-Dietz syndrome to date

At least three severe, potentially fatal genetic diseases leave patients with aortas so flimsy that they can rupture in pregnancy and labor or even lesser activities, often without warning.

31 Aug 2006

Study shows high survival for patients with torn aortas who get surgery

Nearly three years ago, actor John Ritter collapsed on the set of his sitcom, the victim of a rare but often deadly condition called aortic dissection - a tear in the largest blood vessel in the body.

11 Jul 2006

Losartan can prevent progression of Marfan syndrome

A commonly prescribed blood pressure medication may provide the first ray of hope in preventing potentially deadly complications of Marfan syndrome, a genetic disease that weakens the structural meshwork of blood vessels.

11 Apr 2006

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

Finding biological markers that flag aneurysm, a bulging of the aorta that leads to dissection, a lengthwise separation of tissues in the artery wall, is critically important for early diagnosis.

25 Jul 2005

Clinical trial of newest technology to treat thoracic aortic aneurysms

A clinical trial is underway at the Hospital of the University of Pennsylvania (HUP) to study the safety and effectiveness of an endovascular medical device to treat life-threatening thoracic aortic aneurysms. Ronald Fairman, MD, Chief of Vascular Surgery at HUP, is leading the study at Penn and is one of 35 principal investigators in North America to participate in this landmark trial.

16 Feb 2005

Physical traits, genetic test help with early diagnosis of aneurysm syndrome

A research team led by Johns Hopkins doctors has defined the physical traits and genetic basis of a new aortic aneurysm syndrome that is extremely aggressive and can cause death in early childhood. Early diagnosis of the syndrome and rapid surgical repair of the swollen aorta can save lives, the researchers report in the Jan. 30 advance online section of Nature Genetics.

30 Jan 2005