/multisystemic smooth muscle dysfunction syndrome

multisystemic smooth muscle dysfunction syndrome

Rare Disease

MONDO:0013452

Also Known As

ACTA2-related smooth muscle dysfunction syndromemultisystemic smooth muscle dysfunction syndromecongenital mydriasis, patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathymydriasis, congenital, with patent ductus arteriosus, thoracic aortic aneurysm, and vasculopathy

Definition

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.