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The Role of Genetic Testing in the Diagnosis of Marfan Syndrome

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For years, geneticists and cardiologists have taken pride in their ability to identify individuals with Marfan syndrome based on clinical assessment alone, and have minimized a role for genetic testing in the diagnosis. Once the gene FBN1 was found to be the cause of Marfan syndrome, testing was undertaken to determine the role of genetic testing in the diagnosis of Marfan syndrome and if specific clinical features of Marfan syndrome could be correlated with specific FBN1 mutations. Mutation identification is now incorporated into the diagnostic criteria for Marfan syndrome and if a FBN1 mutation is not identified, the diagnosis of Marfan syndrome must be questioned. (“The revised Ghent nosology for the Marfan syndrome.“ J Med Genet; 47:476-485 doi:10.1136/jmg.2009.072785)