Table 3.

Clinical phenotypes of KLK1 and GGCX variant carriers at PAH diagnosis and compared to mean phenotypes of BMPR2 variant carriers

Participant ID	Gender	PAH subclass	Gene	Age at dx (years)	MPAP (mmHg)	MPCW (mmHg)	CO, Fick (L/min)	PVR (Woods units)	MAP (mmHg)	MAP:MPAP
08–022	F	IPAH	KLK1	60	55	7	2.6	18.46	98	1.78
10–096	F	IPAH	KLK1	68	46	9	3.95	9.37	NA	NA
28–049	F	APAH-CHD	KLK1	36	61	5	3.77	14.85	82	1.34
06–058	M	IPAH	KLK1	13	38	8	8.2	3.66	92	2.42
13–002	F	IPAH	KLK1	71	44	9	3.7	9.46	NA	NA
06–007	M	IPAH	KLK1	26	41	11	5.8	5.17	97	2.37
12–061	F	IPAH	KLK1	51	53	13	NA	NA	106	2.00
14–018	M	IPAH	KLK1	61	37	6	4.38	7.08	98	2.65
17–075	F	APAH-CTD	KLK1	82	27	7	5.23	3.82	NA	NA
18–026	F	IPAH	KLK1	37	73	15	NA	NA	NA	NA
19–013	F	IPAH	KLK1	51	42	13	3.6	8.06	112	2.67
19–033	F	IPAH	KLK1	37	34	8	5.53	4.70	93	2.74
Mean ± SD, KLK1				49 ± 20	46 ± 13	9 ± 3	4.7 ± 1.6	8.5 ± 4.9	97 ± 9	2.3 ± 0.5
n, KLK1				12	12	12	10	10	8	8
Mean ± SD, BMPR2				38 ± 15	59 ± 12	10 ± 4	3.7 ± 1.3	15.3 ± 7.3	90 ± 17	1.6 ± 0.4
n, BMPR2				181	175	172	123	120	114	114
p value, KLK1 vs BMPR2				0.014	0.0007	NS	0.02	0.004	NS	< 0.0001
06–014	M	FPAH	GGCX	35	56	7	2.2	22.27	103	1.84
04–020	F	IPAH	GGCX	36	78	8	2.6	26.92	71	0.91
12–207	F	IPAH	GGCX	43	68	7	2.63	23.19	NA	NA
32–003	M	IPAH	GGCX	81	31	4	4.51	5.99	NA	NA
32–008	F	IPAH	GGCX	36	49	15	6.13	5.55	87	1.78
08–013	F	APAH-CTD	GGCX	66	40	9	5.8	5.34	120	3.00
26–036	F	IPAH	GGCX	52	70	9	NA	NA	86	1.23
30–031	F	IPAH	GGCX	55	56	15	NA	NA	121	2.16
04–029	F	IPAH	GGCX	60	51	8	5.53	7.78	NA	NA
04–087	F	IPAH	GGCX	54	40	14	5.64	4.61	115	2.88
34–005	M	IPAH	GGCX	66	43	14	6.85	4.23	83	1.93
11–004	F	IPAH	GGCX	24	77	11	NA	NA	NA	NA
22–108	F	APAH-HIV	GGCX	40	78	13	5.7	11.40	94	1.21
28–110	F	IPAH	GGCX	56	78	NA	3.6	NA	85	1.09
28–096	F	IPAH	GGCX	23	65	7	4.8	12.08	NA	NA
08–046	F	APAH-Porto	GGCX	53	44	10	6.23	5.46	88	2.00
12–205	F	IPAH	GGCX	55	52	8	NA	NA	NA	NA
15–008	F	APAH-CHD	GGCX	14	60	12	2.5	19.20	62	1.03
21–037	F	APAH-CTD	GGCX	45	31	12	5.26	3.61	NA	NA
06–039	F	IPAH	GGCX	28	48	11	4.6	8.04	81	1.69
37–004	F	IPAH	GGCX	48	49	18	3.6	8.61	67	1.37
30–034	F	APAH-CTD	GGCX	49	38	17	NA	NA	NA	NA
14–029	M	IPAH	GGCX	48	50	14	NA	NA	NA	NA
37–010	F	APAH-CTD	GGCX	77	28	6	NA	NA	74	2.64
11–090	F	APAH	GGCX	47	NA	NA	NA	NA	NA	NA
05–013	M	APAH-Porto	GGCX	63	33	6	6.31	4.28	119	3.61
28–033	F	IPAH	GGCX	51	61	NA	3.6	NA	85	1.39
17–033	F	APAH-CTD	GGCX	74	45	7	3.69	10.30	88	1.96
Mean ± SD, GGCX				49 ± 16	53 ± 15	10 ± 4	4.6 ± 1.4	10.5 ± 7.4	91 ± 18	1.9 ± 0.8
n, GGCX				28	27	25	20	18	18	18
Mean ± SD, BMPR2				38 ± 15	59 ± 12	10 ± 4	3.7 ± 1.3	15.3 ± 7.3	90 ± 17	1.6 ± 0.4
n, BMPR2				181	175	172	123	120	114	114
p value, GGCX vs BMPR2				< 0.0001	0.02	NS	0.004	0.01	NS	0.007

Abbreviations: Age at dx participant age at diagnosis/right heart catheterization, MPAP mean pulmonary arterial pressure, MPCW mean pulmonary capillary pressure, CO cardiac output by the Frick method, PVR pulmonary vascular resistance, MAP mean arterial pressure