Takayasu's arteritis concurrent with Marfan syndrome--a case report.
Marfan syndrome (MS) is a dominantly inherited connective tissue disorder characterized by arachnodactyly, tall stature, the presence of aortic aneurysm, and lens dislocation. Takayasu's arteritis (TA) is a chronic vasculitis that primarily affects the aorta and its branches. The authors report the first case of TA in a patient with MS. The simultaneous presence of TA and MS could be a coincidence, however; the pathogenesis of TA might be linked with autoimmunity induced by abnormal extracellular matrix protein derived from the genetic mutations in MS.
Baek
H J
HJ
Department of Internal Medicine, Seoul National University College of Medicine, Korea.
Shin
K C
KC
Lee
Y J
YJ
Kang
S W
SW
Lee
E B
EB
Song
Y W
YW
D000328:Adult; D001013:Aorta, Thoracic / Q000473:pathology; D017545:Aortic Aneurysm, Thoracic / Q000150:complications / Q000235:genetics / Q000276:immunology; D001027:Aortography; D001323:Autoantibodies / Q000097:blood; D002884:Chromosomes, Human, Pair 15; D016326:Extracellular Matrix Proteins / Q000235:genetics / Q000276:immunology; D005260:Female; D000071837:Fibrillins; D006801:Humans; D008279:Magnetic Resonance Imaging; D008382:Marfan Syndrome / Q000150:complications* / Q000235:genetics / Q000276:immunology; D008840:Microfilament Proteins / Q000235:genetics / Q000276:immunology; D010641:Phenotype; D013625:Takayasu Arteritis / Q000150:complications* / Q000235:genetics / Q000276:immunology
D001323:Autoantibodies; D016326:Extracellular Matrix Proteins; D000071837:Fibrillins; D008840:Microfilament Proteins