Table 1.
Clinical features of patients.
| Patient ID | HTP 77 | HTP 78 | HTP 341 |
|---|---|---|---|
| Etiology | Group 1: PAH + ASD | Group 1: PAH + scleroderma | Group 1: PAH + primary biliary cirrhosis |
| Date of birth | 22/09/1946 | 15/10/1975 | 24/08/1988 |
| Age at diagnosis (years) | 63 | 27 | 27 |
| Current age (years) | Dead with 67 years | 45 | 32 |
| WHO functional class | III | I | I |
| Last known PAH therapies | Sildenafil, ambrisentan | Bosentan, tadalafil, epoprostenol | Selexipag, macitentan, tadalafil |
| 6-min walk test (meters) | Not performed | 595 | 454 |
| CPET (date) RER Maximum V02—mL/Kg/min (% of predicted value) VE/VCO2 slope |
Not performed | May of 2018 1.41 11.0 (33) 33 |
March of 2018 1.15 17.0 (53) 38 |
| Mean pulmonary artery pressure (mmHg) | 42 | 51 | 55 |
| Pulmonary capillary wedge pressure (mmHg) | 14 | 6 | 8 |
| Pulmonary vascular resistance (Wood units) | 6.0 | 9.1 | 17.0 |
| Cardiac output (lpm) | 4.6 lpm | 4.6 lpm | 2.7 lpm |
| Cardiac index (lpm/m2) | 3.0 | 3.1 | 1.8 |
| Mean arterial pressure or blood pressure (mmHg) | 96 | 83 | 74 |
| Echocardiographic abnormalities | Repaired Ostium Secundum ASD. Mild dilatation and hypertrophy of the RV and mild RV systolic dysfunction. Mild RA enlargement. | Eccentricity index of 1.7. RV hypertrophy and dilatation. RV systolic dysfunction. Moderate RA enlargement. | Eccentricity index of 1.1. RV hypertrophy and dilatation. Subtle RV systolic dysfunction. Mild RA enlargement. |
| Chest computed tomography abnormalities | Thoracic deformities and diaphragmatic paralysis | Bilateral ground glass opacities related with PH. | No abnormalities noted in chest CT Arterio-venous hepatic fistulae |
| Forced expiratory volume in 1 s (mL) and predicted value by age and sex (%) | 660 (43%) | 2,790 (86%) | 2,00 (89%) |
| Forced vital capacity (mL) and predicted value by age and sex (%) | 1,060 (56%) | 3,240 (61%) | 3,185 (91%) |
| Diffusing capacity of the lungs for carbon monoxide (DLCO) | Not available | 45% | 56% |
| Partial pressure of oxygen (PaO2) | 75 mmHg | 57 mmHg | 55 mmHg |
| V/Q scintigraphy and/or CT pulmonary angiography | Global matched perfusion and ventilation defects | Normal V/Q scan. Main pulmonary artery enlargement. RA and RV enlargement | Matched perfusion and ventilation defects in the upper right lung segment in V/Q scan. |
Summary of the most relevant clinical characteristics of the patients in which a genetic variant was detected. ASD, atrial septal defect; CPET, cardiopulmonary exercise test; CT, Computed tomography; PH, pulmonary hypertension; RA, right atrium; RER, respiratory exchange ratio; RV, right ventricle; V/Q, Ventilation-Perfusion scan; WHO, World Health Organization.