| Literature DB >> 27549731 |
Sudesh Prabhu1,2,3, Scott Fox1, Adrian Mattke1,2,3,4, Jane E Armes2,3,5, Nelson Alphonso1,2,3.
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.Entities:
Keywords: congenital mydriasis; cystic lung disease; extracorporeal life support; mutation; patent ductus arteriosus
Mesh：
Year: 2016 PMID： 27549731 DOI： 10.1177/2150135116658457
Source DB: PubMed Journal: World J Pediatr Congenit Heart Surg ISSN： 2150-1351