An echocardiogram. If you have Marfan syndrome, you should be aware that your cardiologist can use ultrasound to watch for the gradual enlargement of your aorta. Depending on your age, height, and weight, she can determine whether your aorta is growing larger than normal and recommend either medicine, like a beta blocker, or surgery to prevent dissection or rupture of the aorta.
Monitor issues. If you haven't done so yet, you should be followed at least on occasion by someone aware of the unique health issues of Marfan patients. Surveillance of your heart & aortic root with cardiac ultrasound can pick up early signs of change that would warrant surgery. A thorough understanding of how the process has affected you may require a discussions with a geneticist.
Several treatments! Yes! Children and adults with Marfan syndrome can have gradual widening of the aorta - the major artery connected to your heart. Sometimes the aorta becomes so weak that it breaks. But your cardiologist can use an ultrasound machine to watch your aorta very carefully. She can treat you with medicines to slow down the enlargement, and your chest surgeon can even replace your aorta if necessary.
Yes. While there is no specific rx for this genetic connective tissue disorder, life is prolonged by treating it's complications. This reminds me of my patient I operated on for acute dissection of ascending aorta 26 years ago and 10 years later for enlarging abdominal aortic aneurysm. He is still alive today and I see him annually for check up.
Several features. Features suggestive of Marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc...
Ghent criteria. Marfan syndrome is a genetic abnormality of fibrillin, a component of connective tissue. X-rays typically are necessary to diagnose Marfan syndrome. There are several skeletal abnormalities associated with Marfan syndrome. The Marfan foundation website has much helpful diagnostic information. Http://www. Marfan. Org/resources/professionals/marfandx.
Multiple. There is no single test for Marfan's Syndrome. After the clinical suspicion raised, a detailed exam with a focus on heart with EKG and Echo, imaging and genetic history will be needed for the confirmation.
No Specific Test? Marfan's Syndrome is usually diagnosed based of clinial criteria; major / minor per Revised Ghent Nosology with testing for mutations at FBN1 Many other syndrome share features with Marfan's so satisfaction of criteria set for MF is imperative. Criteria is also modified for children less than 20 yrs. Take care!
Eye xam, cardio- -ologists as well as orthopedic surgeons. That covers the main serious features of the syndrome.
Not Necessarily. But it is possible. A visit to the doctor with that question in mind should provide the answer.
NO, but you could. Marfan is a fairly common fenetic disorder characterized not only by tall stature but also by eye problems, cardiac problems and orthopedic problems. Usual characteristics are a long wingspan, long digits, abnormalities of breastbone and or spine, increased elastcity of skin, strech marks, small jaw, long thin face, arched palate, myopia. Abnormalities in 3 organ systems or + genetic testing needed for dx.
Sure. Here you are: http://www. Marfan. Org/about/marfan.
Build a team. Marfan syndrome is a complex condition that requires a team of experts in genetics, ophthalmology, and cardiology to establish or exclude the diagnosis. A good place to start is with your primary care provider and with some help from the national Marfan foundation. Their website has a section written especially for someone like you: http://www. Marfan. Org/marfan/2406/diagnosis#suspect.