MARFAN SYNDROME
MARFAN SYNDROME - WatsonsHealth

MARFAN SYNDROME

Marfan’s syndrome is an inherited connective tissue disease that affects how the body grows. Connective tissue supports the bones and all the other organs of your body. Any disease that affects your connective tissue will have an outcome on your entire body, including your organs, tissues, skin, eyes, and heart.

Other features of this disorder are a tall and lanky height, loose joints, huge and flat toes, and excessively lengthy fingers. This disease happens among people of any age or race, male or female. This disease arises in about one in 5,000 persons.

Marfan’s syndrome is a genetic disorder. The genetic imperfection occurs in a protein referred to as fibrillin-1, which accomplishes an important role in the development of your connective tissue. The defect also leads to the overgrowth of bones, leading to lengthy limbs and tall height.

Signs and symptoms of this disease could reveal in infancy and early childhood, or later in life. Some symptoms could worsen as the person grows old.

Symptoms include the following:

  • Unusually tall height
  • Long limbs
  • Large, flat feet
  • Loose joints
  • Long, thin fingers
  • A curved spine
  • Deformed sternum
  • Crowded teeth

The disorder may also manifest itself in other parts of the body as the following:

  • An enlarged heart
  • Eye problems such as partial lens dislocation, severe nearsightedness, cataracts and glaucoma

Diagnosis

The doctor will review your medical history and will do a physical exam. Tests may include the following:

  • Echocardiogram or ultrasound of the heart
  • Electrocardiogram (EKG), to check heart rate and rhythm
  • Magnetic resonance imaging (MRI), to check for lower back problems
  • Eye exam

 

Medications/Treatment

There is no treatment for Marfan’s syndrome. Medicines may only relieve symptoms.

Heart problems may warrant treatment by a cardiologist with medicines for heart disease or hypertension. Surgery may be done in some cases.

Yearly checkups are needed for bone changes. An orthopedic brace may be needed, or surgery in some cases.

Regular eye checkups should be done. Eye problems may be corrected by glasses, contact lenses or surgery in some cases.

To maintain good lung function, do not smoke. For breathing problems, consult the doctor.

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