Table 3 Characteristics of carriers of pathogenic and likely pathogenic variants of the IPAH/HPAH genes
Pts No. | Sex | Age | Time from IPAH first symptoms to diagnosis, months | WHO functional class at time of diagnosis | MPAP, mmHg | PVR, WU | CI, L/min/m2 | Vasoreactivity test at time of diagnosis | Family history of PAH | PAH treatment effect | Follow- up time, outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | F | 61 | 9 | 3 | 77 | 18.8 | 2.1 | Negative | No | Yes | 9Â months, alive |
2 | F | 33 | 1 | 3 | 43 | 11.9 | 1.7 | Negative | No | Yes | 5Â months, alive |
3 | F | 47 | 18 | 3 | 53 | 12.6 | 2.0 | Positive | No | No | 8Â months, death |
4 | F | 64 | 12 | 1 | 71 | 48 | 1.0 | Negative | No | Yes | 12Â months, death |
5 | F | 37 | 18 | 2 | 71 | 24 | 1.6 | Negative | No | Yes | 9Â years, alive |
6 | F | 36 | 1 | 2 | 71 | 19 | 2.3 | Negative | Yes | Yes | 9Â years, alive |
7 | M | 25 | 36 | 2 | 64 | 12.9 | 2.2 | Negative | No | Yes | 6.5Â years,, alive |
8 | F | 29 | 71 | 3 | NA | NA | NA | Negative | No | Yes | 5Â month, alive |
9 | F | 55 | 45 | 3 | 60 | 24.8 | 1.3 | Negative | No | Yes | 4Â years, alive |
10 | M | 38 | 5 | 3 | 62 | 16.9 | 1.6 | Negative | No | Yes | 1.5Â years, alive |
11 | M | 20 | 48 | 3 | 74 | 20.6 | 1.7 | Negative | No | No | 4Â years, death |
12 | M | 43 | 18 | 2 | 69 | 12.2 | 2.3 | Negative | No | Yes | 4Â years, alive |
13 | F | 6 | NA | 3 | NA | NA | NA | NA | No | Yes | 41Â years, alive |
14 | F | 28 | 1 | 2 | 57 | 3.8 | 8.1 | Positive | No | Yes | 1Â year, alive |