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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.
Diagnosis
Marfan syndrome is a complex disorder that affects connective tissues, presenting a diagnostic challenge due to its symptom overlap with other connective tissue disorders. The variability of signs and symptoms, even among family members, further complicates the diagnosis. To accurately diagnose Marfan syndrome, a specific combination of symptoms and family history is required. In some instances, individuals may exhibit features of Marfan syndrome without meeting the full criteria for diagnosis.
Heart assessment
A key step in evaluating for Marfan syndrome involves heart examinations, primarily through:
- Echocardiogram: Utilizes sound waves to produce real-time heart motion images, assessing heart valve conditions and aorta size.
- Other imaging tests: Computerized tomography (CT) scans and magnetic resonance imaging (MRI) serve as additional options to examine the heart.
Individuals diagnosed with Marfan syndrome are advised to undergo regular imaging tests to monitor their aorta’s size and condition.
Eye examination
Eye health is crucial in Marfan syndrome assessment, involving:
- Slit-lamp exam: With eyes fully dilated, this test evaluates lens dislocation, cataracts, and retina detachment.
- Eye pressure test: Measures intraocular pressure to check for glaucoma, utilizing numbing eyedrops prior to testing.
Genetic testing
Confirming a diagnosis often involves genetic testing to identify Marfan syndrome mutations. Positive identification allows for family member testing to determine if they are affected. Prospective parents are encouraged to consult a genetic counselor to understand the likelihood of passing Marfan syndrome to their children.
Treatment
While there is currently no cure for Marfan syndrome, the primary goal of treatment is to prevent potential complications linked to the condition. This entails regular monitoring to identify any progression of damage caused by the disease.
Historically, individuals with Marfan syndrome experienced a shortened lifespan. However, with modern treatment and consistent monitoring, most can now expect to live a more typical lifespan.
Treatment strategies include:
- Medications: Blood pressure-lowering drugs are often prescribed to mitigate the risk of aortic enlargement, dissection, and rupture.
- Therapy: Vision issues resulting from a dislocated lens in the eye can often be addressed through corrective measures like glasses or contact lenses.
- Surgical and other procedures: Depending on the specific signs and symptoms, interventions may include:
- Aortic repair: Surgical replacement of a portion of the aorta with a synthetic tube is recommended if the diameter reaches a critical size or if rapid enlargement occurs. This helps prevent life-threatening ruptures, and the aortic valve may also require replacement.
- Scoliosis treatment: Significant scoliosis necessitates consultation with a spine specialist, and in some cases, bracing or surgery may be recommended.
- Breastbone corrections: Surgical options exist to address the appearance of a sunken or protruding breastbone. However, insurance coverage for these procedures may be limited as they are often considered cosmetic.
- Eye surgeries: Surgical repair is typically successful for torn or detached retinal parts. Additionally, cataracts can be treated by replacing the clouded lens with an artificial one.
