Marfan Syndrome

Marfan Syndrome Symptoms

With Marfan syndrome, a gene mutation can cause an abnormal protein in the building blocks that make up the aorta and this leads to weakened arterial walls.

Marfan syndrome facts*

*Marfan syndrome facts medical author: William C. Shiel Jr., MD, FACP, FACR

  • Marfan syndrome is a disease of connective tissues that is inherited.
  • The severity of Marfan syndrome varies from one individual to another and it typically progresses over time.
  • A tall, slender build is characteristic of Marfan syndrome.
  • Marfan syndrome affects the skeleton, eyes, heart and blood vessels, nervous system, skin, and respiratory system.
  • Marfan syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1, a protein that is an important part of connective tissue.
  • There is no specific laboratory test, such as a blood test or skin biopsy, to diagnose Marfan syndrome. The doctor and/or geneticist (a doctor with special knowledge about inherited diseases) relies on observation and a complete medical history and examination.
  • There is no cure for Marfan syndrome. However, a range of treatment options are designed to minimize and prevent complications.

What is Marfan syndrome?

Marfan syndrome is a heritable condition that affects the connective tissue. The primary purpose of connective tissue is to hold the body together and provide a framework for growth and development. In Marfan syndrome, the connective tissue is defective and does not act as it should. Because connective tissue is found throughout the body, Marfan syndrome can affect many body systems, including the skeleton, eyes, heart and blood vessels, nervous system, skin, and lungs. Marfan syndrome affects men, women, and children, and has been found among people of all races and ethnic backgrounds.

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