In patients with PAH associated with CHD, we found ten variants in eight samples, three classified as pathogenic (two in BMPR2 in two siblings and one in TBX4) and six VUS in CPS1, ABCC8, SMAD5, SARS2, SMAD1, and NOTCH3 (Table 3). This evidence concerns the gene CPS1 and pulmonary arterial hypertension.