Radiol Technol. Clinical and molecular study of children with Marfan syndrome and related type I fibrillinopathies in a series of probands with pathogenic FBN1 mutations. Medical management of Marfan syndrome. Classical and neonatal Marfan syndrome mutations in fibrillin-1 cause differential protease susceptibilities and protein function.
J Biol Chem. Epub Jul The revised Ghent nosology for the Marfan syndrome. J Med Genet. Recent progress in genetics of Marfan syndrome and Marfan-associated disorders. J Hum Genet. Epub Oct The 8th international research symposium on the Marfan syndrome and related conditions.
Am J Med Genet A. Epub Dec 2. Evaluation of the adolescent or adult with some features of Marfan syndrome. Marfan syndrome affects 1 in every 5, people all over the world.
That makes it pretty rare. Genes are what you inherit from your parents that make you. But sometimes genes can pass on some not-so-great things, too, like certain illnesses and diseases. In most cases, the gene change for Marfan syndrome runs in families, getting passed down to children from parents who have the disease. In these cases, a kid may have grandparents, aunts, uncles, or cousins who also have the disease.
Sometimes, though, neither parent has the disease. In these cases, a normal gene accidentally changed when a baby was first developing. Marfan syndrome can affect people very differently. Some may have very mild symptoms, while others, even within the same family, have severe ones. To be diagnosed with Marfan syndrome, people often see different types of doctors, including a geneticist a doctor who specializes in disorders of the genes , a cardiologist heart doctor , an ophthalmologist eye doctor , and an orthopedist bone doctor.
First, a geneticist will ask whether anyone else in the family has similar symptoms. Then he or she will probably do some painless exams — like taking measurements of the body, including an arm span.
Arm span is kind of like that. Your arm span is how long you measure from your left fingertips to your right fingertips. For some people with Marfan syndrome, their arm span is greater than their height. In other words, they have unusually long arms. The geneticist may also ask if you or a family member had the gene test for Marfan syndrome. To perform this test, a small blood sample is needed to check if there is a change in the gene called FBN1. Changes in this gene cause Marfan syndrome.
He or she may listen to the heart with a stethoscope; take an X-ray of the chest; and perform an electrocardiogram, or EKG a test that measures electrical activity in the heart. In someone with Marfan syndrome, those valves can become floppy, causing blood to leak backward through the heart. An eye doctor will check the eyes for dislocated say: DISS-low-kay-ted lenses. Not everyone with Marfan syndrome has all of the complications.
People with Marfan syndrome must be closely followed by their doctor to watch for the following complications:. Treatment depends on which parts of the body are affected. An aortic aneurysm may be treated with medicine or medicine plus surgery.
Medicine is used to lower blood pressure to help prevent an aneurysm from rupturing and causing a dissection of the aorta. Severe scoliosis and breastbone problems may require surgery. Eye conditions may also require surgery. Skip directly to site content Skip directly to page options Skip directly to A-Z link.
The defective fibrillin gene also causes some bones to grow longer than they should. The mutated gene can be passed on to the child, who will then go on to develop the syndrome.
Find out more about genetic inheritance Diagnosing Marfan syndrome Diagnosing Marfan syndrome can be difficult as the symptoms can vary significantly from person to person. But it's an expensive process, as the gene can mutate in more than 3, different ways. Find out more about how Marfan syndrome is diagnosed Treating Marfan syndrome There's no cure for Marfan syndrome, so treatment focuses on managing the symptoms and reducing the risk of complications.
You'll be closely monitored and any complications will be treated if they occur. This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.
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