[HTML][HTML] Clinical history and management recommendations of the smooth muscle dysfunction syndrome due to ACTA2 arginine 179 alterations
ES Regalado, L Mellor-Crummey, J De Backer… - Genetics in …, 2018 - Elsevier
Purpose Smooth muscle dysfunction syndrome (SMDS) due to heterozygous ACTA2
arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy
(aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications
in smooth muscle–dependent organs. We sought to define the clinical history of SMDS to
develop recommendations for evaluation and management. Methods Medical records of 33
patients with SMDS (median age 12 years) were abstracted and analyzed. Results All …
arginine 179 alterations is characterized by patent ductus arteriosus, vasculopathy
(aneurysm and occlusive lesions), pulmonary arterial hypertension, and other complications
in smooth muscle–dependent organs. We sought to define the clinical history of SMDS to
develop recommendations for evaluation and management. Methods Medical records of 33
patients with SMDS (median age 12 years) were abstracted and analyzed. Results All …