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What is Marfan Syndrome?
Marfan syndrome is a genetic condition where the connective tissue in the body becomes unstable and can rupture easily. In many people, this condition is somewhat mild and does not pose serious threat to health. In some others, however, Marfan syndrome can become a dangerous condition that needs to be medicated.
Marfan syndrome is a genetically inherited disease, meaning that it is passed from parents to children at birth. While a child is born with the genetic mutation that causes Marfan syndrome, they may not ever develop a malignant strain of the condition. Other genetic conditions, as well as Marfan syndrome, can be managed and mitigated through medications and regular check-ins with your doctor. Many cases of Marfan syndrome are confirmed through cardiac genetic testing, which allows doctors to examine the genetic material for any mutations.
Symptoms of Genetic Marfan Syndrome?
If you experience these symptoms, they may be a sign you are suffering from a genetic Marfan syndrome.
- Abnormally long arms and fingers, other related disproportions: this disproportion is symptomatic of Marfan syndrome, as the connective tissues are not functioning properly and have an effect on the development of the body.
- Sense of rapid or fluttering heartbeats, heart murmurs: A feeling of abnormal heartbeats could be a concerning sign that you have Marfan syndrome. Talk to your doctor for a heart screen.
These symptoms can be serious and should be treated with caution. Marfan syndrome’s symptoms can vary even within families, making it difficult to diagnose. Once a diagnosis is reached however, a genetic test is usually done to confirm the diagnosis. From there, a cascade of genetic testing helps identify other family members with the disease.
Treatments for Genetic Marfan Syndrome
There are several ways to help manage Marfan syndrome and live a full life. Many include regular medication and monitoring from a doctor. The goal of the medication is to prevent further deterioration of connective tissue, specifically in the aortic artery. Additionally, a few surgeries are available that help prolong the connective tissue. Ask your doctor about recommendations for you. Additionally, for those in an older demographic, there are assisted living services that are equipped to handle many types of medical conditions.
