Das Marfan-Syndrom: Pathogenese, Phänotypien und Stellenwert bildgebender Verfahren

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 -