What genetic defect does Marfan syndrome have?

Marfan syndrome is caused by defects or deletions (mutations) of the fibrillin-1 (FBN1) gene. Not everyone who has a mutation of this gene develops Marfan syndrome. Some changes do not alter the function of the gene or protein and therefore do not cause a medical problem.

Can you be a carrier of Marfan syndrome?

About 3 out of 4 people with Marfan syndrome inherit it, meaning they get the genetic mutation from a parent who is a carrier of the gene. There is a 50 percent chance that a person with Marfan syndrome will pass along the genetic mutation each time they have a child.

What race is most affected by Marfan syndrome?

Marfan syndrome affects men and women equally and occurs among all races and ethnic groups. Because it’s a genetic condition, the greatest risk factor for Marfan syndrome is having a parent with the disorder.

Is Marfan syndrome a congenital condition?

Marfan syndrome is a congenital condition, meaning a person has it from birth. Physical signs sometimes present in infancy but more often show up later in childhood or adolescence.

What is the life expectancy of a person with Marfan syndrome?

The leading cause of death in Marfan syndrome is heart disease. One in 10 patients may have a high risk of death with this syndrome due to heart problems. Despite the high risk for Marfan related cardiovascular problems, the average life expectancy of those with Marfan syndrome is nearly 70 years.

Does Marfan syndrome run in families?

Marfan syndrome is hereditary, which means it can be passed to a child from a parent who’s affected. In around three-quarters (75%) of cases, Marfan syndrome is inherited from 1 parent. The syndrome is autosomal dominant, which means a child can inherit it even if only 1 parent has the syndrome.

Are there prenatal tests for Marfan syndrome?

If you have Marfan syndrome and want to know if your unborn baby also has the condition, you can have prenatal testing at about 10 to 12 weeks using chorionic villus sampling. This test involves taking and examining a small sample of placenta from the womb.

How do you fix Marfan syndrome?

While there is no cure for Marfan syndrome, treatment focuses on preventing the various complications of the disease. To accomplish this, you’ll need to be checked regularly for signs that the damage caused by the disease is progressing.

What is Marfan syndrome?

Marfan Syndrome – GeneReviews® – NCBI Bookshelf Marfan syndrome, a systemic disorder of connective tissue with a high degree of clinical variability, comprises a broad phenotypic continuum ranging from mild (features of Marfan syndrome in one or a few systems) to severe and rapidly progressive neonatal multiorgan disease.

What are congenital myopathies?

Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course. Historically, congenital myopathies have been classified on the basis of major morphological features seen on muscle biopsy.

What are the z-scores of Marfan syndrome?

A systemic score ≥7 Aortic root dilatation (Z-score ≥2.0 for individuals age ≥20 years or Z-score ≥3.0 for those age <20 years) Pregnancy management:Pregnant women with Marfan syndrome should be followed by a high-risk obstetrician both during pregnancy and through the immediate postpartum period.

How do neurologists diagnose congenital myopathy?

Therefore, to diagnose a congenital myopathy, a neurologist will perform a detailed physical exam as well as tests to determine the cause of weakness.