Marfan Syndrome

Overview

Marfan syndrome is an inherited condition impacting connective tissue, which provides support and structure to various organs and body parts. It primarily affects the heart, eyes, blood vessels, and skeletal system.

Individuals with Marfan syndrome typically have a tall and slender stature, with disproportionately long limbs and digits. The severity of damage caused by Marfan syndrome can vary. In cases where the aorta, the body’s main artery, is affected, the condition can pose life-threatening risks.

Treatment typically involves medications aimed at maintaining low blood pressure to alleviate strain on the aorta. Regular monitoring is essential to track any progression of damage. Many individuals with Marfan syndrome may eventually require preventive surgical interventions to address aortic issues.

Symptoms

Marfan syndrome is a genetic disorder that affects the body’s connective tissue, impacting various systems within the body, including the skeletal system, cardiovascular system, eyes, skin, and internal organs. Its manifestations can range from mild to severe, often intensifying with age as connective tissue changes. Below is an overview of how Marfan syndrome can affect different aspects of an individual’s health and physical appearance.

Physical appearance characteristics

Individuals with Marfan syndrome may exhibit distinct physical features, such as:

• A tall and thin stature, with a long, narrow face.
• Arms, legs, fingers, and toes that appear disproportionately long in comparison to the rest of the body.
• A curved spine; scoliosis affects approximately 60% of individuals with Marfan syndrome.
• A breastbone that is either protruding or indented.
• Weak joints prone to dislocation and flat feet.
• Dental issues like crowded teeth and a narrow, high-arched palate.

Visual complications

More than half of those with Marfan syndrome experience vision problems, including:

• Nearsightedness, which blurs distant objects.
• Lens subluxation, where the eye’s lens shifts from its normal position.
• The development of cataracts and retinal detachment.
• Glaucoma and changes in eye shape.

Cardiovascular concerns

Approximately 90% of people with Marfan syndrome face heart and blood vessel complications, such as:

• Aortic aneurysm, characterized by the weakening and bulging of the aorta’s walls.
• Aortic dissection, a tear in the aorta’s inner layer allowing blood to enter and possibly leading to rupture, which can be fatal.
• Valve malfunctions, where weak valve tissue leads to leaky valves and heart overexertion, particularly affecting the mitral valve.
• An enlarged heart (cardiomyopathy) that may progress to heart failure.
• Abnormal heart rhythms and the potential for brain aneurysms and intracranial bleeding.

Pulmonary changes

Marfan syndrome can lead to alterations in lung tissue, increasing the risk for respiratory conditions such as:

• Asthma, emphysema, and chronic obstructive pulmonary disease (COPD).
• Bronchitis, pneumonia, and a collapsed lung (pneumothorax).

Skin alterations

Skin changes in individuals with Marfan syndrome can include reduced elasticity and the development of stretch marks, even without significant weight fluctuations.

Causes

Marfan syndrome, a genetic disorder affecting connective tissue due to a defect in the fibrillin-1 (FBN1) gene, which is crucial for the structure of fibrillin and elastic fibers, is inherited in an autosomal dominant manner, affecting both men and women equally and can be passed from just one affected parent with a 50% likelihood per child. About 25% of cases arise from a spontaneous gene mutation with an unknown cause. Characterized by its variable expression, not everyone with Marfan syndrome exhibits the same symptoms, and the severity can vary widely among individuals. Although present at birth, the diagnosis of Marfan syndrome may not occur until adolescence or young adulthood.

Risk factors

Marfan syndrome impacts both genders equally and is prevalent across all racial and ethnic groups. Being a hereditary condition, the primary risk factor for developing Marfan syndrome is having a parent who is also affected by the disorder.