Review of the literature summarized cases of T8M with concomitant molecular defects of a deletion at 22q11.2 and pathogenic variants in the <i>SALL1</i>, <i>RECQL4</i>, <i>NF1</i>, <i>CASK,</i> and <i>PAH</i> genes. This evidence concerns the gene CASK and pulmonary arterial hypertension.