Marfan syndrome


What are the main symptoms of Marfan syndrome?

Marfan syndrome most often affects the cardiovascular (heart), skeletal, and eye systems. Not every person with Marfan syndrome will develop every symptom, and some people with Marfan syndrome will have milder symptoms than others. Some of the symptoms seen in individuals with Marfan syndrome include:

  • An enlarged aorta, called aortic dilatation. The aorta is the main artery that provides blood with oxygen to the body. This also tends worsen over time, and proper management is essential to prevent serious medical complications.
  • Enlargement of the proximal pulmonary artery.
  • Tricuspid and/or mitral valve prolapse. Prolapse means that the tricuspid and/or mitral valve of the heart is "floppy", which may or may not cause any symptoms.
  • Tall stature with a characteristic build. Specifically, long limbs with a short torso, called a Marfanoid habitus.
  • Scoliosis (curving of the spine).
  • A chest wall that caves in (pectus excavatum) or bulges out (pectus carinatum).
  • Very long fingers and toes (arachnodactyly).
  • Flat feet (pes planus).
  • Nearsightedness (myopia).
  • Risk for retinal detachment and/or lens dislocation (ectopia lentis).
  • Dural ectasia (swelling of the sac which surrounds the spinal cord).
  • Unusual stretch marks (striae).
  • Lung collapse (pneumothorax).

SOURCE: Emory University - Department of Human Genetics in collaboration with ThinkGenetic • • DATE UPDATED: 2016-06-10


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