Table 1.

Individual clinical characteristics and ages^a at clinical events of the 33 patients with ACTA2 Arg179 alterations.

ID	ACTA2 variant	Age at Diagnosis	Sex	CHD repair	First stroke	Cerebral revascularization	First aortic event		Second aortic event		Other arterial eventb	Death or last f/u	Cause of death
				age	age	age	Type	Age	Type	Age	age	age
1	R179C	0.4	F	0.10								0.1
2	R179H	0.03	M	NA								0.5	4
3	R179H	1	F	0.03	0.1							1.9	4
4	R179C	1.7	F	0.10								2.2
5	R179H	1.5	M	0.17								2.5
6	R179H	2.9	F	0.4†	2.9							2.9
7	R179H	2.3	F	0.05								3.4
8	R179C	3.3	F	0.05†								3.6
9	R179H	3.3	F	0.03	0.006							3.6
10	R179C	4	M	0.02								3.9
11	R179L	5.2	M	0.04								5.2
12	R179C	4.3	F	0.48	4.2							5.6
13	R179H	8	M	0.1†								8
14	R179H	7	F	2.6†								8.7
15	R179H	9	F	0.2†	9.2							9.2
16	R179H	13.0*	F	0.1†	9.3	9.4						11.7	9
17	R179H	13.2	F	0.17		13.2						12.9
18	R179H	9.9	M	0.39			B	14.2			11.1	14.2
19	R179H	14.6	M	0.05		6.5						14.1
20	R179H	14.4	M	0.13	1.4	14.4	B	14.5				14.5	9
21	R179H	11.1	F	0.39			R	10.9				16.2
22	R179H	27.5*	M	0.25			B	14				17	9
23	R179H	14	F	0.07								18.4
24	R179C	19	F	0.25								19
25	R179H	19	F	0.2†			R	15				19.9
26	R179S	16	F	0.86								20.5
27	R179H	16.6	M	.			R	12.8				23.8
28	R179H	26.1	F	0.3†			A	24.7				26.2
29	R179C	30.4*	M	0.2†			R	14	R	30.4		30.4	3
30	R179H	29.1	F	0.1†			R	24.9			24.2	31.3	4
31	R179H	26.8	F	0.4†	31.5	28.8	R	25.3	R	25.8	27.3	31.6	1
32	R179H	26.4	F	0.3†	16		R	11.7	B	32.7		32.7	2
33	R179H	36.6	M	2			A	17	R	18		37.4

Symbols:

^aAll ages are in years;

^bIncludes other arterial aneurysm repair or thromboembolic event;

“.” - unknown; “*” - postmortem analysis; “†” - approximate age.

Abbreviations: F- female, M- male; VS- vital status; L- living, D- deceased; CHD- congenital heart defect (i.e. patent ductus arteriosus, aortopulmonary window); Type of first and second aortic event: blank- no aortic event, R- aortic aneurysm repair, A- type A aortic dissection, B- type B aortic dissection; Last f/u: last recorded follow up by a physician. Cause of death: 1- stroke complications, 2- aortic dissection/rupture, 3- postoperative complications due to aortic surgery, 4- pulmonary-related complications, 9- unknown or undetermined; NA- not applicable