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.

Cedars-Sinai addresses life-threatening aorta condition

Her husband and their five children call Rosa Wernher "the Energizer bunny" because she is always on the go. For decades, not even her genetically inherited Marfan syndrome could keep her off her feet to prevent her from oil painting or from gliding down a ski slope--until it did.

25 Feb 2023

UMSOM researchers unravel the molecular components involved in abdominal aneurysms

When the artery that supplies the stomach and the liver forms a bulge that ruptures, this medical emergency results in the deaths of 50 percent of patients before they reach the hospital.

23 Feb 2023

Spontaneous coronary artery dissection: The leading cause of pregnancy-associated heart attacks

Despite increased awareness over the past decades, only about half (56%) of women recognize that heart disease is their No. 1 killer. Heart disease is the leading cause of death for women in the United States, accounting for 1 in every 5 female deaths.

3 Feb 2023

The role of oxidative stress in congenital syndromes

Researchers discuss the role of oxidative stress in genetic conditions.

10 Oct 2022

Taller adults may be more likely to develop colorectal cancer, study finds

A new meta-analysis, or data examination of several independent studies, by Johns Hopkins Medicine researchers adds to evidence that taller adults may be more likely than shorter ones to develop colorectal cancer or colon polyps that can later become malignant.

3 Mar 2022

Novel CRISPR-based technology may lead to powerful epigenetic therapies

Scientists have figured out how to modify CRISPR's basic architecture to extend its reach beyond the genome and into what's known as the epigenome -- proteins and small molecules that latch onto DNA and control when and where genes are switched on or off.

17 Apr 2021

Women with undiagnosed heart conditions at risk for pregnancy-related aortic dissection

In a time already full of challenges and changes, some pregnant and postpartum women will also experience a rare but dangerous heart complication: an aortic dissection.

14 Oct 2020

Study: More than 300 million people affected worldwide by rare diseases

Rare diseases represent a global problem. Until now, the lack of data made it difficult to estimate their prevalence.

24 Oct 2019

Researchers identify gene mutation that causes musculoskeletal problems in children

Researchers have identified a gene mutation that causes developmental delay, intellectual disability, behavioral abnormalities and musculoskeletal problems in children. The newly diagnosed condition, called NKAP-related syndrome, arises from mutations in the NKAP gene, which plays a key role in human development.

3 Oct 2019

Cardiovascular surgeons heal a patient’s aortic dissection

When James Inman, 59, first experienced chest pain one night, he tried to brush it off and go back to sleep. But the pain became unbearable and Inman felt like something was wrong, so he called 911.

19 Sep 2019

New statement emphasizes need for special multidisciplinary clinical programs

With a better understanding of how various heart conditions are inherited, and the availability of faster and less expensive genetic testing, there is need for more specialized multidisciplinary clinical programs that combine focused expertise in heart disease and genetics, according to a new statement from the American Heart Association, the world's leading voluntary organization focused on heart and brain health.

25 May 2019

Blood pressure medication slows enlargement of the aorta in patients with Marfan syndrome

Treatment with a drug to lower blood pressure slows enlargement (dilatation) of the aorta in children and young adults with Marfan syndrome, according to late breaking results from the AIMS trial presented today in a Hot Line Session at ESC Congress 2018.

28 Aug 2018

CRISPR-based treatment can restore retinal function in mice with eye disease

Researchers from Columbia University have developed a new technique for the powerful gene editing tool CRISPR to restore retinal function in mice afflicted by a degenerative retinal disease, retinitis pigmentosa.

11 May 2018

Moderate exercise reduces progression of Marfan syndrome symptoms in mice

Regular physical activity is a common therapy for people with cardiovascular problems, but not recommended to those with Marfan syndrome, a rare disease of the connective tissue, but mainly affecting the cardiovascular system.

18 Dec 2017

New Vanderbilt Center offers comprehensive care for patients with Marfan syndrome and aortic disease

With the recent opening of the Vanderbilt Marfan Syndrome and Aortic Disorders Center, the state's only comprehensive clinic serving entire families, hundreds of patients with connective tissue disorders now have a one-stop shop for health care.

12 Jan 2017

Serious heart problem can run in families and occur at similar ages, study suggests

People with a family member who had an aortic dissection—a spontaneous tear in one of the body's main arteries—should take note of the age that family member was when the aortic dissection occurred.

25 Aug 2016

Tarix Orphan's TXA127 granted FDA Fast Track Designation for treatment of DMD patients

Tarix Orphan LLC, a privately held biopharmaceutical company focused on the treatment of rare neuromuscular disorders and connective tissue diseases, today announced that the U.S. Food and Drug Administration has granted Fast Track Designation to TXA127 (angiotensin 1-7) to reduce skeletal muscle damage and fibrosis and thereby improve muscle strength in Duchenne Muscular Dystrophy (DMD) patients.

6 Oct 2015

Researchers identify first gene that causes common form of mitral valve prolapse

An international research collaboration led by Massachusetts General Hospital investigators has identified the first gene in which mutations cause the common form of mitral valve prolapse (MVP), a heart valve disorder that affects almost 2.5 percent of the population.

11 Aug 2015

Medical researchers at Saint Louis University bring hope to those in pain and sickness

This year, Saint Louis University medical researchers advanced their fields, contributing to human knowledge and bringing hope to those in pain and sickness.

23 Dec 2014

New treatment for Marfan syndrome works as well as beta blockers

A new treatment for Marfan syndrome, a rare genetic disease that can lead to heart problems, works as well as the currently recommended medical therapy, beta blockers, according to an article in the New England Journal of Medicine.

21 Nov 2014