Abstract
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.
MeSH terms
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Adult
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Aorta, Thoracic / pathology
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Aortic Aneurysm, Thoracic / complications
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Aortic Aneurysm, Thoracic / genetics
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Aortic Aneurysm, Thoracic / immunology
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Aortography
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Autoantibodies / blood
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Chromosomes, Human, Pair 15
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Extracellular Matrix Proteins / genetics
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Extracellular Matrix Proteins / immunology
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Female
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Fibrillins
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Humans
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Magnetic Resonance Imaging
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Marfan Syndrome / complications*
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Marfan Syndrome / genetics
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Marfan Syndrome / immunology
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Microfilament Proteins / genetics
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Microfilament Proteins / immunology
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Phenotype
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Takayasu Arteritis / complications*
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Takayasu Arteritis / genetics
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Takayasu Arteritis / immunology
Substances
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Autoantibodies
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Extracellular Matrix Proteins
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Fibrillins
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Microfilament Proteins