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SALT LAKE CITY — Marfan syndrome is a genetic disorder that affects the body's connective tissue. Its most dangerous side effect occurs in heart valves and the aorta, and people die from the heart conditions without even knowing they had the disorder.
Cause and symptoms
WebMD defines Marfan syndrome as an inherited disease typically passed from parent to child. However, 25 percent of Marfan cases have no known family history of the disease.
The genetic disorder causes weakness and lack of elasticity to "tendons, cartilage, heart valves, blood vessels and other vital parts of the body," WebMD editors write. This syndrome can also affect the lungs, eyes, spinal cord, skeleton and the hard palate.
This condition is common and affects 1 in 5,000 Americans and is found in all races and cultures.
There are some physical traits people with Marfan syndrome have in common:
- Tall, thin build
- Disproportionately long arms, legs, fingers and toes
- Scoliosis, or curvature of the spine
- Chest that sinks in or sticks out
- Heart murmurs
- Extreme nearsightedness
- Crowded teeth
- Flat feet
Diagnosis and treatment
Now before you panicking, people should know many people have these body types and do not have Marfan syndrome. A medical workup, including both a physical exam and genetic testing, is needed to diagnose the condition. A doctor may also prescribe various heart and eye tests (see MayoClinic.org for more details).
Once Marfan syndrome is discovered, a patient's treatment plan will be individualized. Not all people with the disorder have the same symptoms or outcomes, and they will need regular monitoring and care from a physician. Complications from Marfan syndrome are many — hemorrhage, retinal detachment, glaucoma, abdominal hernia and emphysema, to name a few.
The MayoClinic lists the following as common treatments for Marfan syndrome:
- Medication, mainly to lower blood pressure
- Therapy, both physical and emotional
- Surgery, which is sometimes needed to prevent aortic dissection or to replace of heart valves.
- Activity limits: Avoid high-intensity team sports, contact sports, weightlifting
- Pregnancy: Genetic testing needs to be done before pregnancy. Pregnant women with Marfan syndrome are also considered high-risk.
- Endocarditis prevention: Because of heart and valve involvement, some will be at a higher risk to have a bacterial infection.
- Emotional health: Feelings of fear, anger and sadness are common. Stable emotional health is key to living with Marfan’s syndrome.
Suzanne Carlile, "Nurse Suzy," has been a nurse since 1982. Her main focus is critical care and nursing education. She holds a master's degree in nursing, is a Certified Emergency Nurse, and a member of NNSDO Intermountain West Chapter.
