Marfan Syndrome

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.