Marfan Center
People with diagnosed or suspected Marfan syndrome or another congenital disease of the aorta may make an appointment for a consultation at our Center. Usually patients are referred to us by their general practitioners or by other hospitals. Others come because they themselves suspect that they may have Marfan syndrome.
Our first aim is to establish whether the patient does have Marfan syndrome or another disease.
Charité und Deutsches Herzzentrum Berlin
M a r f a n C e n t e r
Augustenburger Platz 1
13353 Berlin
Telefon: 030/ 4593 - 2320
Telefax: 030/ 4593 - 2137
Chairman
Prof. Dr. med. Dr. Roland Hetzer
E-mail marfan@dhzb.de
Contacts
Petra Gehle, Senior Physician
E-mail marfan@dhzb.de
Interdisciplinary Consultations with the following Departments:
Cardiology, Charité
Cardiothoracic and Vascular Surgery, DHZB
Gynecology, Charité
Human Genetics, Charité
Neonatology, Charité
Neurology, Charité
Opthalmology, Charité
Orthopedic Medicine, Charité
Pediatric Cardiology, Charité, DHZB
Prenatal Diagnostics, Charité
Psychosomatic Medicine, Charité, DHZB
Pulmonology, Charité, DHZB
Radiology, Charité, DHZB
Social Services, Charité
Information for Patients
1. What is the Marfan Center?
The Marfan Center, which is part of both the Charité and the Deutsches Herzzentrum Berlin, developed from the Marfan advice hours that have been offered by the Department of Cardiac Surgery at the DHZB and the Department of Human Genetics of the Charité for over 20 years. A new law concerning the care of outpatients with rare diseases, of which Marfan syndrome is one, has enabled the establishment of a single center for the complex care and treatment of these patients. The Center acts as a focus for medical expertise and enables all the necessary doctors' appointments to be coordinated, thus saving time and unnecessary effort on the part of the patients.
2. How can I make an appointment?
Appointments at our Center can be made by telephone or by email. When you have made the appointment we will send you an estimate of the costs.
3. How can I prepare for the appointment?
It will be a help if you can send us in advance the medical documents relating to your condition. At the latest, you should bring these documents with you to the appointment (doctors' reports, findings, operation reports, films, and a list of the medication you are taking). The physician who you see will discuss the existing findings with you, examine you and, if appropriate, set up a schedule for further diagnostic procedures.
4. What should I expect at the first visit?
It is our aim to perform all the necessary examinations and tests on one day. It will depend on your individual situation whether we can tell you at the end of the day if you have Marfan syndrome or another congenital aortic disease. If you have already been diagnosed as having Marfan syndrome, we will make a note of the details. Together we will discuss the program for your further individual care.
Often various additional examinations are necessary. For these you will usually see a team consisting of several doctors from different specialities: orthopedic medicine, opthalmology, genetics, cardiology or pediatric cardiology, and surgery. These doctors have special experience of Marfan syndrome and other congenital diseases of the connective tissue.
If a genetic mutation analysis is necessary, it can be several months before we receive the result and can make the final diagnosis.
5. What should I expect at later appointments?
We do our best to perform the necessary examinations without you having to wait for long.
Depending on the individual situation, physicians from other disciplines will contribute to your care. In addition, we strive to provide help with social and or psychological problems that can result from the illness. You can make an appointment with the Department for Psychosomatic Medicine or Social Services through our Center.
Please do not hesitate to take advantage of this support. The aortic disease associated with Marfan syndrome poses a certain threat and may be a source of anxiety; we can answer your questions in this regard. In social terms, problems at work (for example due to health restrictions or absenteeism) or for children at school are, unfortunately, common. In such cases we can also offer you professional help.
What to do in an emergency
Patients with Marfan syndrome may develop typical complications such as:
- acute aortic problems
- inflammation of the heart valves (endocarditis)
- pneumothorax
- acute detachment of the retina.
If you develop symptoms of one of these complications, call an emergency doctor immediately. You will need to be admitted at once to a hospital with all departments, including heart surgery.
Call the Marfan telephone hotline 030-4593-2320 to contact a senior physician at our Department of Cardiothoraic Surgery 24 hours a day.
Symptoms of the three most common emergencies
- Acute aortic disease:
An acute aortic syndrome can be caused be tears in the wall of the main artery of the body (the aorta).
Typical symptoms are sudden searing chest or back pain, wandering pains or a second acute pain attack. Further, problems with the circulation to the arms or legs may occur, and this can be very painful. Fainting, transitory or permanent paralysis and blood in the urine, stool or saliva may also be indicative of an aortic syndrome. Apart from theses classical symptoms, aortic complications may manifest very atypical signs.
- Acute heart valve inflammation:
Symptoms of heart valve inflammation are fever, shivering, rapid heart beat, lack of appetite, loss of weight, feelings of weakness, perspiration at night, headache, joint pain, neurological symptoms, bleeding in the eyes or blood in the urine. Heart valve imflammation often develops gradually and is not recognized until later on.
Your doctor may find the following skin symptoms: petechiae (small spots caused by hemorrhage), Osler spots (painful red spots the size of a pinhead or lentil in the palms of the hands, finger tips or soles of the feet), Janeway lesions (reddish brown patches on the palms and soles measuring up to 5 mm and caused by microabscesses in the skin), or splinter hemorrhage (striped bleeding under the finger-nails).
- Acute pneumothorax:
Pneumothorax (pneu = air, thorax = chest) develops when air enters the space between the lung and the chest wall and the lung becomes separated from the chest wall and collapses. This can be caused by overexertion. The most common symptom of pneumothorax is a stabbing pain that increases when you breathe deeply. To avoid this pain, people with this condition breathe shallowly and rapidly.
A dry cough may occur. Sometimes air enters the fatty issue beneath the skin and can be pressed out, making a crackling sound (skin emphysema). The heart rate may be accelerated. As a result of lack of oxygen, the lips and later also the skin and mucous membranes can turn blue (cyanosis).
If pneumothorax is only slight, the symptoms may be mild and not require treatment. However, the condition known as “tension pneumothorax” can lead to dramatic symptoms within only a few minutes.
- Acute detachment of the retina:
Detachment of the retina causes sudden, persistent flashes before the eyes, accompanied by entire or partial loss of vision. Pain does not typically occur.
Call an ambulance and have yourself admitted to the nearest eye hospital with surgical facilities.
Further information may be obtained from us, from the website of the National (USA) Marfan Foundation www.marfan.org, the website of the Marfan Association of the United Kingdom www.marfan-association.org.uk/ or, in German, from Marfan Hilfe (Deutschland) e.V. and the website of the Selbsthilfegruppe Berlin/Brandenburg (in preparation).