In addition to treating patients with commonly seen health concerns, the team at Palm Beach Children’s Hospital is constantly investing in programs to treat even the most specialized conditions. Thanks to this commitment to medical innovation and healing our community, we’ve introduced our outpatient Marfan and Aortopathy Center at the Ranes Pavilion on our campus. Patients and families living with Marfan syndrome now have access to resources that can help make living with this diagnosis more manageable.
Our center, led by a multidisciplinary team specially-trained in treating connective tissue disorders, works together to develop treatment plans based on each patients’ individual needs. Palm Beach Children’s Hospital also provides access to more than 130 pediatric specialists trained in more than 30 subspecialties in the event that your child requires additional care.
What is Marfan Syndrome?
Marfan syndrome is a connective tissue disorder. Connective tissue provides stability and flexibility to the body. Because connective tissue is found everywhere in the body, Marfan syndrome can affect many body systems such as the heart, blood vessels, eyes, bones, and joints. The signs and symptoms of this condition are variable, even within the same family, and can range from mild to severe. The age of onset of symptoms and progression of the condition also varies from person to person.
Marfan syndrome is caused by a gene change (sometimes called a mutation or variant) in the fibrillin 1 (FBN1) gene. This condition affects about 1 in 5,000 people worldwide of all ages, gender and races. About 75% of Marfan Syndrome cases are inherited, whereas 25% are a result of a new change (not inherited) in the FBN1 gene.
Some of the major clinical features of Marfan syndrome include: vision problems (most often as a result of the dislocation of the lens), skeletal changes, such as scoliosis and abnormalities of the breastbone, and cardiovascular concerns, specifically relating to the aorta. The aorta is the main blood vessel that carries blood from the heart to the rest of the body. When this vessel is weakened and stretched, it can lead to an aortic dissection. A dissection is a tear in the wall of the aorta, which can be life-threatening.
Those who are diagnosed with Marfan syndrome are usually tall and slender, and can have unusually long extremities and fingers, flexible joints and have an arm span that exceeds their body height. Other common signs include an irregular curving of the spine a sunken chest a protruding chest and stretch marks. Some patients develop a spontaneous leak of air from the lung into the chest cavity that can result in a collapsed lung. Some patients with a Marfan syndrome diagnosis may have some degree of nearsightedness, cataracts or glaucoma. Additionally, other cardiac problems can occur, such as a mitral valve prolapse or aortic valve regurgitation. These leaks in the heart valves can result in fatigue, shortness of breath and heart palpitations.
Diagnosis and Management of Marfan Syndrome
A diagnosis of Marfan syndrome can be made clinically, or by using a combination of clinical features and genetic testing. A genetic test is a blood test that identifies changes in chromosomes or genes, and can be ordered by your clinical geneticist or genetic counselor. It’s important to note that not all patients with this condition will have a positive result on their genetic test because not all gene variances associated with Marfan syndrome have been discovered.
The age of onset and severity of clinical features can vary from person to person. Some young children may have many clinical features, whereas others continue to develop symptoms as teens or young adults. In the majority of cases, people with a diagnosis of Marfan syndrome can have a normal life expectancy with appropriate monitoring and treatment.
Management of Marfan syndrome should include a multidisciplinary team approach comprising of a cardiologist, clinical geneticist, genetic counselor, nurse, ophthalmologist, orthopedist, cardiothoracic surgeon and additional specialists as needed. Treatment plans are designed to address each body system that is affected, while annual observation for aortic aneurysms and lens dislocation is strongly recommended. Specialists often recommend that patients avoid contact sports, but general physical activity guidelines should always be discussed with your doctor. Women living with a Marfan syndrome who plan on becoming pregnant should first speak with their doctor to discuss individual risks and options.
For a free physician referral to our Marfan and aortopathy center, call (855) 835-5398. To speak with our center coordinator, call (561) 840-6090.
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