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.

Marfan syndrome researcher to receive March of Dimes/Colonel Harland Sanders Award

A long-time clinician and researcher on Marfan syndrome who helped identify the syndrome's genetic cause and a potential treatment will be honored by the March of Dimes.

30 Mar 2012

Researchers pinpoint source of Loeys-Dietz syndrome

A USC research team has pinpointed the source of a genetic disorder that causes life-threatening birth defects, which may allow doctors to quickly diagnose and better treat the disease.

14 Feb 2012

Losartan may help prevent smoking-related COPD

Working with mice, scientists at Johns Hopkins have successfully used a commonly prescribed blood pressure medicine, losartan (Cozaar), to prevent almost all of the lung damage caused from two months of exposure to cigarette smoke. The treatment specifically targeted lung tissue breakdown, airway wall thickening, inflammation and lung over-expansion.

4 Jan 2012

Children can have successful surgical repairs for hollow or sunken chest

Hollow or sunken chest, the most common congenital deformity of the chest wall affecting one in 300 to one in 400 children, is rarely life-threatening and virtually all children can have successful surgical repairs.

11 Nov 2011

Common genetic variant may predispose people to acute dissections

Richard Holbrooke, John Ritter, Lucille Ball, Jonathan Larson and Great Britain's King George II were all taken by the same silent killer: an acute aortic dissection. Now, scientists led by researchers at The University of Texas Health Science Center at Houston and Baylor College of Medicine have found an association with a common genetic variant in the population that predisposes people to acute dissections and can approximately double a person's chances of having the disease.

12 Sep 2011

Bedside screening tool can help diagnose acute aortic dissection

The most lethal and sudden cardiovascular event can be the toughest for doctors to diagnose. But a study by the University of Michigan Cardiovascular Center shows new guidelines are effective for determining who's most likely suffering from an aortic dissection, which is tearing in the lining of the body's largest blood vessel.

16 May 2011

Losartan therapy improves muscle injury regeneration and prevents disuse atrophy

Using geriatric mice, a Johns Hopkins research team has shown that losartan, a commonly used blood pressure drug, not only improves regeneration of injured muscle but also protects against its wasting away from inactivity.

12 May 2011

Animal studies reveal new route to treating heart disease

Scientists at Johns Hopkins have shown in laboratory experiments in mice that blocking the action of a signaling protein deep inside the heart’s muscle cells blunts the most serious ill effects of high blood pressure on the heart. These include heart muscle enlargement, scar tissue formation and loss of blood vessel growth.

2 May 2011

Scientists discover new clues about mechanism behind losartan drug's protective effects

The Johns Hopkins researchers who first showed that the commonly used blood pressure drug losartan may help prevent life-threatening aneurysms of the aorta in patients with Marfan syndrome have now discovered new clues about the precise mechanism behind the drug's protective effects.

16 Apr 2011

Losartan improves effectiveness of nanotherapeutics against cancer

Low doses of an inexpensive, FDA-approved hypertension medication may improve the results of nanotherapeutic approaches to cancer treatment. In a report in the early edition of Proceedings of the National Academy of Sciences, Massachusetts General Hospital (MGH) investigators describe experiments showing that the generic drug losartan, by modifying the network of collagen fibers that characterizes most solid tumors, improved the effectiveness of two nanotherapeutics against several types of cancer.

3 Feb 2011

University of Luebeck becomes part of Metaminer Cardiac Partnership

GeneGo, Inc., a leading provider of databases, software and services in systems biology and chemistry, announced today that Dr. Salah Mohamed in Department of Cardio and Thoracic Vascular Surgery at the University of Luebeck and his team will be part of the Metaminer Cardiac Partnership. Dr. Mohamed is published within 6 different reputed Scientific American Journals in connection with Biomarker Discovery work performed for the American Heart Association.

21 Jul 2010

New study data on distal aortic perfusion for thoracoabdominal aortic aneurysm repair

The vascular surgeons at Massachusetts General Hospital (MGH) in Boston have traditionally repaired thoracoabdominal aortic aneurysms (TAA) with a clamp and sew (CS) technique that includes neuro-protective adjuncts like epidural cooling and aggressive intercostal reconstruction (IC) to prevent spinal cord ischemia.

11 Jun 2010

Researchers identify major indicator of heart failure and aortic aneurysms

Case Western Reserve University School of Medicine researchers have identified a major indicator of two deadly diseases of the heart and blood vessels: heart failure and aortic aneurysm. The absence of the Kruppel-like Factor 15, when combined with stress, leads to both heart failure and aortic aneurysms.

8 Apr 2010

Genetic study may help develop potential treatment strategies for stiff skin syndrome

By studying the genetics of a rare inherited disorder called stiff skin syndrome, researchers at the Johns Hopkins University School of Medicine have learned more about scleroderma, a condition affecting about one in 5,000 people that leads to hardening of the skin as well as other debilitating and often life-threatening problems.

20 Mar 2010

Stiff skin syndrome cause found

18 Mar 2010

New clinical guidelines: Early diagnosis and treatment of TAD can save lives

When actor John Ritter died suddenly in 2003 from a tear in his thoracic aorta-the large artery that carries blood from the heart to the rest of the body-that tragedy brought attention to a rare but deadly condition that takes the lives of an estimated 10,000 Americans each year.

17 Mar 2010

Study reveals hereditary factors contribute to abdominal aortic aneurysm in twins

A new study in the January issue of the Journal of Vascular Surgery(®), published by the Society for Vascular Surgery®, reveals robust epidemiological evidence that hereditary factors contribute to aneurysm formation in twins.

6 Jan 2010

Findings may yield new treatments for COPD

A genetic mutation found in four children born with multiple abnormalities may provide insight into potential treatments for newborn lung distress and chronic obstructive pulmonary disease (COPD).

19 Oct 2009

Detection is the key to preventing the sudden death of young athletes

Few things stun a community more than when a seemingly healthy high school or collegiate athlete suddenly dies during practice or in competition from a hidden heart disorder.

11 Aug 2009

Should we use echocardiography to screen young athletes?

Sudden and unexpected deaths in young competitive athletes are uncommon but highly visible events, which raise concern and ethical issues in both the lay public and medical community. Which is the best strategy to timely identify individuals with cardiac disease responsible for sudden death (primarily, HCM) is largely debated. Namely, the extent to which sophisticated testing, such as echocardiography, is needed is still undefined.

31 Aug 2008