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Links am Tisch sitzt eine Ärztin im weißen Kittel, ihr Notebook betrachtend. Rechts am Tisch ein junges Paar. Der Mann spricht mit der Ärztin.

Consulatation Marfan Syndrome


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Special consultation Marfan Syndrome

Marfan Syndrome is an autosomal dominantly inherited disease of the connective tissue which appears with a frequency of 1:10.000 people in the population. Clinical manifestations are found in many organ systems, e.g. in the eye, in the skeletal system and in the lung.

Nevertheless, the average life expectancy clearly diminished at the age of 32 years with untreated patients is caused by participation of the heart circulation system.  With the help of interdisciplinary competence centres serious complications can be delayed or prevented by a catalogue of measures.

Because of the the high variability of the MFS and the fact that isolated characteristics of  Marfan Syndrome like scoliosis also often occur  among the general population, the diagnosis is sometimes a clinical challenge which needs a lot of experience beside a detailed cardiological and ophthalmologic experience. The clinical care of people with MFS particularly includes the  following five points:  (1) Detailed consultation regarding a life style adaptation and the life planning with moderate restriction of physical activities, (2) Realization of the endocarditis prophylaxis, (3) serial cardiological investigations including sectional image diagnostics of aorta monitoring and if necessary serial ophthalmologic  and orthopaedic follow-ups, (4) Prescription of a beta blocker for the aortic protection and (5) if necessary prophylactic substitute of the aortic root considering latest criteria.

You can find other details on this and other subjects under www (homepage of the MarfanHilfe association). Furthermore the MarfanHilfe (Germany) has published  a guide for patients ("Marfan-Syndrom - Ein Ratgeber für Patienten, Angehörige und Betreuende". Under the ISBN Nummer 3-7985-1565-4 the book has appeared in the Steinkopff publishing company and costs 19.95€.).

There is an interdisciplinary consultation hour for individuals with Marfan Syndrome offered by the Charité.

For further research on Marfan syndrome also see Research on the subject Marfan Syndrome.