Marfan Syndrome: Know the Signs and Win the Fight
What is Marfan Syndrome?
People with Marfan syndrome are born with the condition, although they may not notice any symptoms until later in life, and some of the symptoms might occur at any age. Some people have a lot of characteristics when they’re born or when they’re young. Others, as teenagers or even adults, acquire aortic hypertrophy. Some characteristics are progressive, which means they might worsen with time and age.
What are the Signs of Marfan Syndrome?
Causes: A mutation in the FBN1 gene causes Marfan syndrome. A child of a person with this syndrome has a one-in-two risk of inheriting the disease. This syndrome is inherited from one afflicted parent in around three out of four instances.
Every individual’s experience with Marfan syndrome is different. No one possesses all of the characteristics, and others have varying mixes of characteristics. Some aspects of this condition are more obvious than others. These are some of them:
- Long arms, legs, and fingers
- Tall and thin body type
- Curved spine
- Chest sinks in or sticks out
- Flexible joints
- Flat feet
- Crowded teeth
- Stretch marks on the skin that are not related to weight gain or loss
Other signs are harder to detect: Heart disorders, particularly those involving the aorta, the main blood channel that delivers blood out from the heart to the rest of the body, are more difficult to detect. Other symptoms include extreme nearsightedness, dislocated lens, detached retina, early glaucoma, and early cataracts, as well as rapid lung collapse. Detecting these characteristics frequently necessitates the use of specialized testing.
Long-term outlook for Marfan Syndrome
A person with Marfan syndrome used to live until they were in their mid-40s, but today they live into their 70s, which is equivalent to the overall population.
This improved lifespan is mainly due to:
- improved awareness of Marfan syndrome across health professionals
- early diagnosis
- advances in medical management and medication
- improved and more effective surgical techniques
- appropriate lifestyle changes.
Individuals with this syndrome can enhance their overall health and quality of life by embracing lifestyle changes that lessen stress on their bodies and undergoing regular monitoring. A healthcare practitioner can provide you with lifestyle recommendations that are appropriate for you.
Marfan’s syndrome is associated with abnormal costochondral cartilage formation and pectus excavatum. Aortic dilatation is more common in the presence of pectus excavatum and its complications are a significant cause of morbidity and mortality in Marfan’s syndrome. Any questions regarding Pectus? The Center of Excellence for Pectus can definitely help. Send us a message!