The genetic basis of aortic disease. Marfan syndrome and beyond.
The Marfan syndrome and related disorders are systemic disorders of connective tissue. Proximal aorta is usually dilated. The molecular basis of Marfan syndrome has been elucidated, thus allowing prenatal diagnosis. Life expectancy has markedly improved due to the widespread use of beta-adrenergic receptor inhibitors and improved surgical management of the aortic disease.
Tsipouras
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Department of Pediatrics, John Dempsey Hospital, University of Connecticut Health Center, Farmington, USA. tsipouras@nso1.uchc.edu
Silverman
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D001014:Aortic Aneurysm / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D000071837:Fibrillins; D005838:Genotype; D006801:Humans; D008382:Marfan Syndrome / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D008840:Microfilament Proteins / Q000235:genetics; D010641:Phenotype
D000071837:Fibrillins; D008840:Microfilament Proteins