Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome
World Journal for Pediatric and Congenital Heart Surgery
Published online on August 22, 2016
Abstract
We describe an infant with congenital mydriasis, patent ductus arteriosus (PDA), pulmonary hypertension, and cystic lung disease. She had all the major components of multisystemic smooth muscle dysfunction syndrome. Due to progressive respiratory deterioration, she required surgical PDA interruption, extracorporeal life support, and subsequent prolonged respiratory support. Genetic testing revealed ACTA2 R179H mutation and cystic lung disease on biopsy.