What is non-syndromic FTAAD?
Mutations in MYH11, PRKG1, MYLK and MAT2A genes are found to cause non-syndromic FTAAD with non-aortic features overlapping with those of non-syndromic variants of ACTA2.
MYH11, PRKG1 and MYLK gene mutations share involvement in disruption of smooth muscle cell contractility (SMC) with ACTA2 mutations.
Mutation of MAT2A gene causes a development of TAAD, by an unknown as yet cellular pathway.
Individuals with non-syndromic FTAAD do not have facial dismorphism and no marfanoid skeletal manifestations.
Livido reticularis, the purplish, lace like skin discoloration, which does not present in all individuals with non-syndromic FTAAD, is the only feature which may trigger a thought of looking for presence of TAAD.