Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome. (November 2017)

• Record Type: Journal Article
• Authors: Prabhu, Sudesh; Fox, Scott; Mattke, Adrian; Armes, Jane E.; Alphonso, Nelson
• Is Part Of: World journal for pediatric & congenital heart surgery. Volume 8:Number 6(2017)
• Page Start: 750
• Page End: 753
• Publication Date: 2017-11
• Subjects: congenital mydriasis -- patent ductus arteriosus -- cystic lung disease -- mutation -- extracorporeal life support; Pediatric cardiology -- Periodicals; Congenital heart disease in children -- Periodicals; Heart -- Abnormalities -- Surgery -- Periodicals; Heart -- Surgery -- Periodicals; Heart Defects, Congenital -- surgery -- Periodicals; Cardiac Surgical Procedures -- Periodicals; Child -- Periodicals; Adult -- Periodicals; 618.9212
• DOI: 10.1177/2150135116658457
• Languages: English
• ISSNs: 2150-1351

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.