Expertise centers Marfan and related aortic diseases

About the Radboudumc center of expertise

The center Marfan and related aortic diseases specializes in the care of patients with a major artery disease, such as Marfan syndrome.

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About the Radboudumc center of expertise

Marfan syndrome is a congenital disorder of your connective tissue. It is hereditary and can give abnormalities in your bone structure, eyes, heart and blood vessels. Early recognition and treatment of the condition enables patients to live longer. If it is known that the abnormal gene that causes this disease runs in the family, we can make the diagnosis at a very early age.
 
Several disorders are related to the Marfan syndrome, such as Familial Thoracic Aortic Aneurysm and Dissection (familial TAAD), the collective name for aortic diseases that can occur in a family. In the case of an aortic aneurysm, the body artery (aorta) is stretched/dilated.
 
The medical supervision is partly the same as with Marfan. This also applies to a number of other very rare diseases, such as an abnormal (bicuspid) aortic valve with thoracic aortic aneurysm, Weill-Marchesani syndrome, Marfanoid skeletal syndrome, Sphrintzen-Goldberg syndrome, Loeys-Dietz syndrome, Ehlers-Danlos syndrome (vascular type), Beal syndrome (Congenital Contractual Arachnodactylia) and other syndromic and non-syndromic (familial) aortic disorders.
 
We have special consultation hours for:
  • children with Marfan (0 to 16 years)
  • adolescents with Marfan (16 to 18 years)
  • adults with Marfan (older than 18 years)
  • children and adults suspected of having hereditary aortic disease (aneurysm outpatient clinic)
  • adults with a bicuspid aortic valve (aortic valve with two instead of three valves), e.g. women with Turner syndrome.

Expertise

At Radboudumc’s center of expertise in Marfan and related aortic diseases, we treat more than 700 patients with an aortic disorder every year, with medication or surgery. We have a great deal of experience in diagnosis, treatment, supervision and possible surgery. Our doctors are very knowledgeable in complex operations of the aorta. That is how they can:
  • protect the brain during aortic arch surgery with specific techniques
  • operate in a way that saves aortic valves
  • protect organs and spinal cord during surgery
  • operate on breast anomalies, such as sunken or protruding chest

The ophthalmologist treats any lens problems and an orthopedic surgeon focuses on complications in bone structure.
 
The center of expertise in Marfan and related aortic diseases is acknowledged by the Ministry of Health, Welfare and Sport.

Multidisciplinary team

Various specialists work together at our center of expertise: cardiologists, pediatric cardiologists, congenital cardiologists, cardio-thoracic surgeons, vascular surgeons, intervention radiologists, a nursing specialist, ophthalmologists, orthopedic surgeons, pediatricians and clinical geneticists.

 

Making an appointment and first visit

In cases where Marfan or a related aortic disease is suspected, your general practitioner or treating specialist could refer you to our center of expertise.

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Making an appointment and first visit

In cases where Marfan or a related aortic disease is suspected, your general practitioner or treating specialist could refer you to our center of expertise.
 
Main reasons for a referral are:
  • dilation or tear (dissection) of the aorta
  • special physique or other external features
  • eye problems
  • skeletal disorders
  • a family member has an aortic disorder
We will then decide whether additional genetic and/or imaging research is needed.
 
After the diagnosis, we will offer you further supervision and treatment. Most patients visit the center of expertise once every 1 to 2 years.

Patient organizations


Participating in our research

Within our center of expertise, we conduct scientific research into aortic diseases. Sometimes, patients can participate in studies. Your doctor will be able to inform you about this. Of course, participation is voluntary.

Contact


Contact

+31 (0)24 361 45 90

Contact

+31 (0)24 361 39 46
contact

Contact

+31 (0)24 361 67 00: open from Mon to Fri 8.00 – 16.30 hrs, other times via SEH: +31 (0)24 361 41 87
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