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). The gene discussed is SMAD5; the disease is pulmonary arterial hypertension.