title: Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome.
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.
authors.affiliation: 1 Queensland Paediatric Cardiac Services, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.|2 School of Medicine, University of Queensland, Brisbane, Queensland, Australia.|3 Mater Medical Research Institute, Brisbane, Queensland, Australia.
authors.forename: Sudesh
authors.initials: S
authors.lastname: Prabhu
authors.affiliation: 1 Queensland Paediatric Cardiac Services, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
authors.forename: Scott
authors.initials: S
authors.lastname: Fox
authors.affiliation: 1 Queensland Paediatric Cardiac Services, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.|2 School of Medicine, University of Queensland, Brisbane, Queensland, Australia.|3 Mater Medical Research Institute, Brisbane, Queensland, Australia.|4 Paediatric Intensive Care, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.
authors.forename: Adrian
authors.initials: A
authors.lastname: Mattke
authors.affiliation: 2 School of Medicine, University of Queensland, Brisbane, Queensland, Australia.|3 Mater Medical Research Institute, Brisbane, Queensland, Australia.|5 Anatomic Pathology, Mater Health Services, Brisbane, Queensland, Australia.
authors.forename: Jane E
authors.initials: JE
authors.lastname: Armes
authors.affiliation: 1 Queensland Paediatric Cardiac Services, Lady Cilento Children's Hospital, Brisbane, Queensland, Australia.|2 School of Medicine, University of Queensland, Brisbane, Queensland, Australia.|3 Mater Medical Research Institute, Brisbane, Queensland, Australia.
authors.forename: Nelson
authors.initials: N
authors.lastname: Alphonso
mesh_terms: D000015:Abnormalities, Multiple; D001706:Biopsy; D006348:Cardiac Surgical Procedures; D004374:Ductus Arteriosus, Patent / Q000175:diagnosis / Q000601:surgery*; D015199:Extracorporeal Membrane Oxygenation / Q000379:methods*; D015785:Eye Diseases, Hereditary / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007223:Infant; D009130:Muscle, Smooth / Q000002:abnormalities* / Q000473:pathology / Q000503:physiopathology; D015878:Mydriasis / Q000175:diagnosis*; D013577:Syndrome; D014057:Tomography, X-Ray Computed
keywords: congenital mydriasis; cystic lung disease; extracorporeal life support; mutation; patent ductus arteriosus