Aorta disease and Marfan syndrome

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Marfan’s syndrome is a systemic disorder of connective tissue caused by mutations in the extracellular matrix protein fibrillin 1. Cardinal manifestations include proximal aortic aneurysm, dislocation of the ocular lens, and long-bone overgrowth. Important advances have been made in the diagnosis and medical and surgical care of affected individuals, yet substantial morbidity and premature mortality remain associated with this disorder. Progress has been made with genetically defined mouse models to elucidate the pathogenetic sequence that is initiated by fibrillin-1 deficiency. The new understanding is that many aspects of the disease are caused by altered regulation of transforming growth factor β (TGFβ), a family of cytokines that affect cellular performance, highlighting the potential therapeutic application of TGF β antagonists. Insights derived from studying this mendelian disorder are anticipated to have relevance for more common and non-syndromic presentations of selected aspects of the Marfan phenotype.

Marfan’s syndrome is a systemic disorder of connective tissue, first described more than 100 years ago by a Parisian professor of paediatrics, Antoine-Bernard Marfan, who reported the association of long slender digits and other skeletal abnormalities in a 5-year-old girl, Gabrielle.1 Today, the disorder that bears his name has benefited from decades of clinical and molecular investigation. This review will highlight the clinical manifestations, molecular pathogenesis, standard treatment, and emerging therapeutic options for this multisystem disorder.


Sometimes Marfan syndrome is so mild, that few if any, symptoms are noticeable right away. In most cases, symptoms become evident as changes in connective tissue happen as you age.

Because Marfan syndrome affects your connective tissue, it can affect your entire body including your skeletal system, heart and blood vessels, eyes, skin and organs.

Physical appearance

Physical features include:

A long, narrow face.

Tall and thin body build.

Arms, legs, fingers and toes that may seem too long for the rest of your body.

Curved spine. Scoliosis affects 60% of people with Marfan syndrome.

Breastbone (sternum) that may either stick out or be indented.

Joints that are weak and easily become dislocated.

Flat feet.

Dental issues

Dental problems include:

Crowded teeth.

Narrow, higher than normal arched palate (roof of the mouth).

Eye problems

More than half of all people with Marfan syndrome have eye problems. These include:

Nearsightedness (blurring of objects far away).

Lens subluxation (the lens of the eye moves away from its typical position).


A difference in the shape of the eye.

Retinal detachment.


Heart and blood vessel problems

About 90% of people with Marfan syndrome develop changes in their heart and blood vessels. Changes that can develop include:

Aortic aneurysm. The walls of the aorta, the major artery that carries blood from the heart to the rest of your body, become weak, bulge out and could rupture (burst). This happens most commonly at the aortic root (the point where the aortic artery leaves the heart).

Aortic dissection. This is a tear in the inner layer of the three wall layers of the aorta. The tear allows blood to enter the middle layer, which extends the tear and leads to a further separation and possibly wall rupture. This can be fatal.

Heart valve problems. Marfan syndrome can cause valve tissue to become weak and stretch. This leads to valves that don’t close tightly, causing leaks and backflow of blood. The heart often has to work harder when valves aren’t working properly. The mitral valve is commonly affected.

Enlarged heart. The heart muscle may enlarge and weaken over time, causing cardiomyopathy, even if the heart valves are not leaking. The condition may progress to heart failure.

Abnormal heart rhythm. Arrhythmia can occur in some people with Marfan syndrome. It’s often related to mitral valve prolapse.

Brain aneurysms. People with Marfan may have a history of intracranial (inside the skull) bleeding from a ruptured brain aneurysm.

Lung changes

The changes in lung tissue that occur with Marfan syndrome increase the risk for:



Chronic obstructive pulmonary disease (COPD).



Collapsed lung (pneumothorax).

Skin changes

Skin can become less stretchy, causing stretch marks to occur, even without changes in weight.


When you have Marfan syndrome, there is a defect in the gene that encodes the structure of fibrillin and the elastic fibers, a major component of connective tissue. This gene is called fibrillin-1 or FBN1.

In most cases, Marfan syndrome is inherited. The pattern is called “autosomal dominant,” meaning it occurs equally in men and women and can be inherited from just one parent with Marfan syndrome. People who have Marfan syndrome have a 50% chance of passing along the disorder to each of their children.

In 25% of cases, a new gene defect occurs due to an unknown cause. Marfan syndrome is also referred to as a “variable expression” genetic disorder because not everyone with Marfan syndrome has the same symptoms and the symptoms may be worse in some people than others.

Marfan syndrome is present at birth. However, you may not be diagnosed until you’re a teen or young adult.

Risk factors

Marfan syndrome can weaken the walls of the aorta, the main artery that leaves the heart. During pregnancy, the heart pumps more blood than usual. This can put extra stress on the aorta, which increases the risk of a deadly dissection or rupture.

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Marfan syndrome can damage the blood vessels, heart, eyes, skin, lungs, and the bones of the hips, spine, feet, and rib cage. Some complications of Marfan syndrome can be treated or prevented, including heart disease, bone deformities such as a curved spine, eye conditions, crooked teeth, and collapsed lungs.03


Treatment usually includes medications to keep your blood pressure low to reduce the strain on your aorta. Regular monitoring to check for damage progression is vital. Many people with Marfan syndrome eventually require preventive surgery to repair the aorta