An adult case of NOTCH3 mutation in pulmonary artery hypertension

A diagnostic right heart catheterization (RHC) showed right atrial pressure (RAP) 6 mmHg, RV pressure 84/2/10 mmHg, pulmonary artery pressure (PAP) 87/47/54 mmHg, pulmonary capillary wedge pressure (PCWP) 7 mmHg, cardiac output (CO)/cardiac index (CI) 3.23/1.7 and pulmonary vascular resistance (PVR) 14 Wood units, with no response to vasoreactivity testing. Family member screening could not be performed as her siblings refused and she did not have any biological offspring. Since diagnosis, her symptoms have improved with treatment and she is now in WHO Functional Class III. Furthermore, our patient had the missense variant c.5990A>G, p.(Asn1997Ser), which has not been described in prior medical PAH literature nor has it been reported in the medical ClinVar and Human Gene Mutation Database (HGMD) databases.