Table 1.
Clinical characteristics of the patients carrying ABCC8 variants.
| Variant | c.211C > T p.(His71Tyr) | c.298G > A p.(Glu100Lys) | c.1429G > A p.(Val477Met) | c.1643C > T p.(Thr548Met) | c.2176G > A p.(Ala726Thr) | c.2422C > A p.(Gln808Lys) | c.2694 + 1G > A | c.3238G > A p.(Val1080Ile) | c.3288_3289del p.(His1097ProfsTer16) | c.3394G > A p.(Asp1132Asn) | c.3976G > A p.(Glu1326Lys) |
|---|---|---|---|---|---|---|---|---|---|---|---|
| gnomAD frequency | 0 | 0.00007162 | 0.000007957 | 0.00006322 | 0.0004671 | 0.00005303 | 0.000003979 | 0.00003536 | 0 | 0.00003185 | 0.0001452 |
| PAH type | CHD associated | PVOD | IPAH | IPAH | HPAH | IPAH | CTD associated | IPAH | IPAH | CHD associated | IPAH |
| Sex | Male | Male | Male | Female | Male | Female | Female | Female | Female | Female | Male |
| Age of diagnoses, y | 24 | 58 | 32 | 27 | 36 | 34 | 26 | 43 | 29 | NA | 31 |
| FC | II | III | III | III | III | III | III | III | II | II | NA |
| PAP mmHg | 150/70/90 | 47 | 62/27/39 | 96/36/58 | 136/55/91 | 45/18/29 | 125/48/78 | 114/26/55 | 69/33/45 | 57/26/38 | 100/66/77 |
| RAP mmHg | 12 | 2 | 12 | 9 | 4 | 4 | 4 | 9 | 6 | 10 | 6 |
| CI l/min | 4.1 | 5.9 | 4.8 | 4.08 | 4 | 5.4 | 5.75 | 4.6 | 5.6 | 2.9 | 4.8 |
| IC | 2.5 | 3.5 | 2 | 2.55 | 2.15 | 2.9 | 3.57 | 2.7 | 3.94 | 1.65 | 2.3 |
| PVR, WU | 18.5 | 6.7 | 12 | 10 | 19.25 | 4 | 12.9 | 13.2 | 6.6 | 8.27 | 13.2 |
| PRVi, uxm2 | 47.5 | 11.4 | 28.68 | 18.8 | 35.8 | 5.9 | 20.7 | 17.8 | 9.3 | 14.5 | 29.6 |
| O2 Sat % PA | 67 | 68 | NA | 76 | 59 | 98 | 98 | 96 | NA | 74 | NA |
| O2 Sat % AO | 78 | 89 | 93 | 95 | 93 | NA | 68 | NA | NA | 96 | 95 |
| NT-pro-BNP | NA | 2,180 | NA | 402 | NA | NA | NA | NA | 83 | 327 | NA |
| T6MW m (no O2) | 484 | 180 | 276 | 525 | 525 | 420 | 463 | 336 | 562 | 366 | 266 |
| ECO RA cm2 | 28 | NA | 15 | NA | NA | NA | NA | NA | 11.9 | 15 | NA |
| Eco RV mm | 64 | 65 | 52 | 39 | 51 | NA | NA | NA | 29 | 51 | NA |
| DLCO, % | NA | 22.5 | 92 | 63 | 100 | 72 | 74 | 73 | 92 | NA | 74 |
| Treatment | PDEi-5, ERAs, systemic prostanoids | PDEi-5, ERAs, inhaled prostanoids | PDEi-5, systemic prostanoids | PDEi-5, ERAs, systemic prostanoids | PDEi-5, ERAs, systemic prostanoids | PDEi-5, ERAs | PDEi-5, ERAs, systemic prostanoids | Systemic Prostanoids | PDEi-5, ERAs | ERAs | PDEi-5, ERAs, selexipag |
| Survival Time; y | 4 | 4.5 | 22.5 | 8 | 7 | 12 | 18 | 18 | 9 | 4 | 18 |
| Final status | Alive | Exitus | Alive | Alive | Transplant | Alive | Alive | Alive | Alive | Alive | Alive |
| Variants in PAH genes | SMAD1 c.27delinsGTAAAG p.(Phe9LeufsTer2) | None | None | None | None | None | None | None | None | None | None |
| Comorbidities | None | None | None | None | None | None | None | None | None | None | None |
| Other Commentaries | Restrictive interventricular septal defect and suprasystemic pulmonary hypertension | Clinical diagnosis of PVOD | None | None | None | None | None | None | None | PAH diagnosed after ostium secundum surgery | None |
ExAC Exome Aggregation Consortium, PVOD pulmonary venooclusive disease, CTD connective tissue disease, CHD congenital heart disease, y years, FC functional class, PAP pulmonary arterial pressure, RAP right atrial pressure, CI cardiac index, PVR pulmonary vascular resistance, PVRi PVR index, O2 sat O2 saturation, NT-pro-BNP B type natriuretic peptide, T6MW 6-min walk test, ECO RA right atrium echocardiography, ECO RV right ventricle echocardiography, DLCO diffusing capacity, PDEi-5 phophodiesterase inhibitors, ERAs endothelin receptor antagonists, NA not available.