Marfan syndrome is a disorder involving the body's connective tissue. Connective tissue has many important functions, including the following:
A defective (FBN1) gene associated with Marfan syndrome affects the formation of a protein in connective tissue called fibrillin, which impacts the integrity of many organs and structures in the body. Organs and body systems that can be impacted include, but are not limited to, the following:
According to the March of Dimes, more than 200,000 people in the US are affected by Marfan syndrome. Marfan syndrome occurs in equal numbers in males and females, and also appears equally in all races and ethnic groups.
Marfan syndrome is caused by an abnormality (or mutation) in one specific gene (FBN1). Up to 75 percent of the time, this mutated gene is inherited from a parent who is affected.
Nearly 25 percent of the time, cases are thought to be caused by new mutations in the family (not inherited from a parent). Scientists have noted that offspring of fathers who are older (than the norm) at the time of conception may be affected by this gene mutation more often than others. Mutations occur sporadically (by chance) in the sperm of older men (over 45 years) who father children at a rate of 1 percent. These "point mutations" can result in Marfan syndrome, or other disorders, depending on which gene is accidentally altered.
Marfan syndrome is an autosomal dominant disorder. This means that each offspring of an affected parent will have a 50 percent chance of also being born with the disorder. Similarly, when a child is born with Marfan syndrome to unaffected parents, the child will have a 50 percent risk of passing the gene on to the next generation.
Children with Marfan syndrome are at risk for serious problems involving the cardiovascular system, including the following:
A deficiency of fibrillin in connective tissue creates the abnormalities in organs and body structures that may be seen with Marfan syndrome. An extensive list of abnormalities can occur with the disorder; only symptoms listed as "major criteria" are listed below. Other symptoms may be noted that contribute to the certainty of the diagnosis. Each child may experience symptoms differently. Symptoms may include:
The symptoms of Marfan syndrome may resemble other problems or medical conditions. Always consult your child's physician for a diagnosis.
In addition to a complete medical history and physical examination, your child's physician may complete a family medical history to look for other family members with known Marfan syndrome or some of the characteristics of the disease.
Other diagnostic tests for Marfan syndrome may include the following:
In order to be diagnosed with Marfan syndrome, your child must exhibit several characteristics from a detailed list. Your child needs to have a significant number of the symptoms on the checklist in order to be diagnosed with the disorder. Your child's physician will make the diagnosis based on medical and family history and other factors, as well as symptoms your child may exhibit.
Marfan syndrome may be easier to diagnose as children age, as many of the features of the disorder become more obvious as your child grows.
Specific treatment for Marfan syndrome will be determined by your child's physician based on:
At the present time, there is no cure for the disorder. Treatment is based on determining which organ systems are affected and managing the problems that arise. Recommendations for managing Marfan syndrome may include the following:
Genetic counseling is important for people who have Marfan syndrome and are planning to have a family. If one parent has the disorder, there is a 50 percent chance, with each pregnancy, for a child to also have Marfan syndrome. In addition, women with Marfan syndrome who become pregnant have significant risks for their health during pregnancy, due to the added stress that a pregnancy puts on the heart. Avoidance of pregnancy is often recommended to reduce the risk of injury to the aorta.
Heart and blood vessel problems pose the largest threat to a person with Marfan syndrome, which emphasizes the importance of regular evaluation by your child's physician. Consult your child's physician for more information regarding the specific outlook for your child.
With advances in the diagnosis, evaluation, and management of the organ abnormalities associated with Marfan syndrome, the life expectancy for a person with the disease has nearly doubled in the past 25 years. Today, individuals with Marfan syndrome can expect to live about 70 years.
For women with Marfan syndrome, pregnancy and childbirth pose significant risks. These women should be evaluated with echocardiography prior to becoming pregnant. Other diagnostic imaging procedures, such as computed tomography angiography (CTA) or magnetic resonance angiography (MRA), may be used to assess risks. Cesarean delivery (C-section) is generally recommended for pregnant women with Marfan syndrome to prevent strain on the aorta and decrease the risk of aortic dissection during labor.
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