Multisystemic smooth muscle dysfunction syndrome

A spectrum of conditions caused by monoallelic pathogenic variants in ACTA2. Phenotypes can present in isolation or in combination and can include, but are not limited to: cardiovascular manifestations (heritable thoracic aortic aneurysm and dissection, coronary artery disease, patent ductus arteriosus, aortic pulmonary window, and/or early-onset atherosclerosis), smooth muscle cell dysfunction (hypoperistalsis, hydronephrosis and hydroureter, megacystis), ophthalmological manifestations (retinal vessel disease, congenital mydriasis and iris flocculi/hypoplasia), and a Moyamoya-like cerebrovascular disease.

Also known as: ACTA2-related smooth muscle dysfunction syndrome, multisystemic smooth muscle dysfunction syndrome, congenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy, mydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy

5 clinical trials for this condition and its sub-types.