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.

Cornell researchers document first case of Marfan syndrome in cats

Researchers at Cornell University have documented the first molecular characterization of Marfan syndrome in domestic cats in a paper in Scientific Reports.

25 Sep 2026

Elusive stem cells offer clues to treat lumbar spinal stenosis

Researchers at Weill Cornell Medicine and Hospital for Special Surgery have discovered the stem cells—unspecialized cells that can develop into specific cell types—that give rise to the body's tendons and ligaments, the tissues connecting muscles and bones.

7 Sep 2026

Physics-informed AI framework improves aortic aneurysm stress prediction

Ascending thoracic aortic aneurysms often progress silently, but once dissection or rupture occurs, they can cause severe mortality before hospital arrival or during admission.

4 Sep 2026

Mount Sinai launches Adams Valve Institute for advanced heart care

The Mount Sinai Health System today announced the launch of the Adams Valve Institute, a new global center dedicated to advancing comprehensive care and surgical techniques for patients with heart valve disease.

7 Apr 2026

CRISPR-based therapeutic approach designed to treat fatal pediatric disease

Multisystemic smooth muscle dysfunction syndrome (MSMDS) is a rare condition associated with stroke, aortic dissection (tearing) and death in childhood.

11 Sep 2025

New mouse model sheds light on molecular triggers of aortic dissection

Due to the sudden rupture of the aortic wall, aortic dissection is a life-threatening condition that requires immediate medical attention, as it can lead to vascular collapse.

29 May 2025

EMA designates allopurinol as first orphan drug for the treatment of Marfan syndrome

The European Medicines Agency (EMA) has designated allopurinol as the first orphan drug for the treatment of Marfan syndrome, a rare connective tissue disease which as no cure to date.

19 May 2025

Woman with rare genetic disorder delivers healthy baby after complex pregnancy

When Jessica Johnson, 36, began to experience labored breathing and heart palpitations, she quickly made an appointment to see a cardiologist.

11 May 2025

Genetic pathways explain why some people grow tall and others stay short

A landmark review in Nature Reviews Genetics dissects the rare and common genetic variants that shape human height. The paper explains how monogenic and polygenic factors converge on key growth pathways and influence disease risk.

7 Apr 2025

Study identifies potential risk factor for aortic aneurysms in Loeys-Dietz syndrome

Studying the cells of people and genetically engineered mice, Johns Hopkins Medicine scientists say they have uncovered a potential reason why patients with Loeys-Dietz syndrome, an inherited connective tissue disorder, are especially prone to developing aneurysms at the root of the aorta, the major artery that carries blood away from the heart and to the rest of the body.

9 Dec 2024

New comprehensive report on pediatric long COVID symptoms published

Up to 5.8 million children and youth in the U.S. have experienced symptoms of COVID-19 that persisted long after initial infection.

12 Feb 2024

Resistance training can help lower risk factors for cardiovascular disease

A recent scientific statement from the American Heart Association suggests that resistance training is at least as safe as aerobic exercise for those with heart disease and other health conditions, and for most people can provide similar or additive benefits in lowering risk factors for cardiovascular disease.

31 Jan 2024

Smidt Heart Institute at Cedars-Sinai opens Aortic Surveillance Clinic for patients with enlarged aortas

The Smidt Heart Institute at Cedars-Sinai has opened an Aortic Surveillance Clinic for the evaluation and long-term monitoring of patients with enlarged aortas, or aortic aneurysms, for whom surgery may not be necessary.

26 Dec 2023

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