Das Marfan-Syndrom: Pathogenese, Phänotypien und Stellenwert bildgebender Verfahren
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Das Marfan-Syndrom: Pathogenese, Phänotypien und Stellenwert bildgebender Verfahren. / Dieckmann, C; Von Kodolitsch, Y; Rybczynski, M; Adam, G.
in: ROFO-FORTSCHR RONTG, Jahrgang 175, Nr. 11, 11.2003, S. 1482-1489.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Review › Forschung
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TY - JOUR
T1 - Das Marfan-Syndrom: Pathogenese, Phänotypien und Stellenwert bildgebender Verfahren
AU - Dieckmann, C
AU - Von Kodolitsch, Y
AU - Rybczynski, M
AU - Adam, G
PY - 2003/11
Y1 - 2003/11
N2 - Marfan syndrome is a genetic disorder with autosomal dominant inheritance. It is caused by mutations in the fibrillin-1 gene and leads to different disease manifestations. Seventy-five percent of the affected individuals develop an aneurysm of the ascending aorta, 41 % suffer from aortic dissections, and 93 % die of cardiovascular diseases. Skeletal changes occur in two-thirds of the patients, and lens dislocation is observed in 60 to 80 %. Without treatment, the life expectancy is 32 +/- 16 years. However, Marfan patients can live up to 60 years if they receive optimal therapy. Early diagnosis of the disease and it 's life-threatening sequelae is the prerequisite for early therapy. Radiologic diagnostic techniques are of pivotal importance in this context as they allow the identification of major and minor disease manifestations and the detection of severe dilatations and aortic dissections at an early stage. This overview describes the radiologically detectable multiple changes seen in Marfan syndrome and explains the diagnostic value of various imaging techniques in the diagnosis and therapy of Marfan syndrome.
AB - Marfan syndrome is a genetic disorder with autosomal dominant inheritance. It is caused by mutations in the fibrillin-1 gene and leads to different disease manifestations. Seventy-five percent of the affected individuals develop an aneurysm of the ascending aorta, 41 % suffer from aortic dissections, and 93 % die of cardiovascular diseases. Skeletal changes occur in two-thirds of the patients, and lens dislocation is observed in 60 to 80 %. Without treatment, the life expectancy is 32 +/- 16 years. However, Marfan patients can live up to 60 years if they receive optimal therapy. Early diagnosis of the disease and it 's life-threatening sequelae is the prerequisite for early therapy. Radiologic diagnostic techniques are of pivotal importance in this context as they allow the identification of major and minor disease manifestations and the detection of severe dilatations and aortic dissections at an early stage. This overview describes the radiologically detectable multiple changes seen in Marfan syndrome and explains the diagnostic value of various imaging techniques in the diagnosis and therapy of Marfan syndrome.
KW - Bone and Bones/diagnostic imaging
KW - Electrocardiography
KW - Humans
KW - Image Processing, Computer-Assisted
KW - Marfan Syndrome/diagnosis
KW - Tomography, X-Ray Computed
U2 - 10.1055/s-2003-43399
DO - 10.1055/s-2003-43399
M3 - SCORING: Review
C2 - 14610698
VL - 175
SP - 1482
EP - 1489
JO - ROFO-FORTSCHR RONTG
JF - ROFO-FORTSCHR RONTG
SN - 1438-9029
IS - 11
ER -