The constellation of vascular abnormalitites that include aortic aneurysms and persistence of patent ductus arteriosus, with involvement of SMCs in other organs leading to congenital absence of the iris, malrotation of the gut and primary pulmonary hypertention was previously described in individuals with ACTA2 mutations resulting in a change at R179 and was classified as multisystemic smooth muscle dysfunction syndrome [12]. This evidence concerns the gene ACTA2 and multisystemic smooth muscle dysfunction syndrome.