Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome

Autor:	Scott Fox, Nelson Alphonso, Adrian C. Mattke, Jane E. Armes, Sudesh Prabhu
Rok vydání:	2016
Předmět:	congenital hereditary and neonatal diseases and abnormalities medicine.medical_specialty Biopsy Extracorporeal 03 medical and health sciences 0302 clinical medicine Extracorporeal Membrane Oxygenation Ductus arteriosus Internal medicine medicine Humans Abnormalities Multiple Respiratory system Cardiac Surgical Procedures Ductus Arteriosus Patent Genetic testing medicine.diagnostic_test biology business.industry Mydriasis Infant Eye Diseases Hereditary Muscle Smooth General Medicine Syndrome medicine.disease Pulmonary hypertension medicine.anatomical_structure Life support Anesthesia Pediatrics Perinatology and Child Health 030221 ophthalmology & optometry biology.protein Cardiology Surgery Female ACTA2 Cardiology and Cardiovascular Medicine business Tomography X-Ray Computed 030217 neurology & neurosurgery
Zdroj:	World journal for pediatriccongenital heart surgery. 8(6)
ISSN:	2150-136X
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::625b559dd6badea6296997e2f0b774b3 https://pubmed.ncbi.nlm.nih.gov/27549731 Zobrazit plný text záznamu