Expert consensus recommendations on the cardiogenetic care for patients with thoracic aortic disease and their first-degree relatives (original) (raw)

“…20 In patients with suspected MFS, the revised Ghent criteria should be employed as a high pre-test probability of disease confers 66-91% odds of finding an FBN-1 mutation and targeted FBN-1 testing should be pursued. 68 Tables 3 and 4 list the revised Ghent criteria. 69 However, if other familial TAAs are suspected, then the European Society of Human Genetics recommends testing for the following 'core genes': ACTA2, COL3A1, FBN-1, FLNA, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PRKG1, SMAD3, TGF-β2, TGF-β3, TGF-βR1 and TGF-βR2.…”