Table 3.

FBN1 mutation identified in nonsyndromic TAAD without family history

ID	Sex	Age	Hypertension	Gene	Variant	Classification	SIFT	Polyphen2_HDIV	Disease	Surgery procedure	History of aortic surgery
TAAD0005	M	49	N	FBN1	c.1846G>A p. Glu616Lys	VUS	D	D	AD	AVP+AOR+TAR+DASI	Y
TAAD0012	M	37	N	FBN1	c.4346A>T p. Glu1449Val	VUS	D	D	AD	B+PAR	N
TAAD0021	F	50	N	FBN1	c.2470delA, p. Ser824AlafsX22	LP	/	/	AD	AOR+TAR+DASI	Y
TAAD0029	M	69	Y	FBN1	c.1825C>T p. Arg609Cys	VUS	D	D	AD	AVR+AOR+PAR+DASI	N
TAAD0037	M	38	N	FBN1	c.7559C>T p. Thr2520Met	VUS	T	D	TAA	AVR	N
				FBN2	c.577C>T p. Pro193Ser	VUS	T	D
TAAD0049	F	28	Ya	FBN1	c.3373C>T p. Arg1125Ter	P	/	/	AD	B+TAR+DASI; cesarean section + hysterectomyb	N
TAAD0083	M	50	N	FBN1	c.2860C>T p. Arg954Cys	P	/	/	AD	B+TAR+DASI	N
				NOTCH3	c.709G>A p. Val237Met	VUS	/	/

^atransient gestational hypertension;

^bdelivery before aortic repair in the same stage.

VUS: variant of uncertain significance; P: pathogenic; LP: likely pathogenic; D: deleterious; T: tolerated; B: Bentall procedure; AVP: aortic valvuloplasty; AOR: ascending aorta replacement; TAR: total arch replacement; DASI: descending aorta stent implantation; PAR: partial arch replacement; AVR: aortic valve replacement.