A severe complication of the Marfan syndrome is that the aorta may split and be torn apart. The patient can be protected if the syndrome is diagnosed and treated in good time. In the current edition of the Deutsches Arzteblatt International (Dtsch Arztebl Int 2008; 105[27]: 483-91), the human geneticist Mine Arslan-Kirchner from Hannover University Medical School and his coauthors present additional studies on Marfan patients.


Marfan syndrome occurs at a frequency of between 1:5000 and 1:10000 and is either hereditary or the result of spontaneous genetic mutations. As a consequence, there are changes in the consistency of connective tissue. Symptoms develop in the cardiovascular system, the eyes, and the skeleton. A much feared and potentially fatal complication is that the aorta can split and tear. The patient can then die from internal bleeding. Patients' average life expectancy is 32 years without treatment, but can be extended to 60 years with optimal therapy. The full-blown disease is not always present; individual symptoms may be lacking. This makes reliable diagnosis difficult and in many cases, clinical and molecular genetic studies must be combined to clarify the situation. If the diagnosis is made in good time, the damaged aorta can be surgically replaced.


Source: Elke Bartholomaeus
Deutsches Aerzteblatt International

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