Extracorporeal Life Support in Multisystem Smooth Muscle Dysfunction Syndrome

First Published August 22, 2016 Case Report

Authors

, MCh123
 
Queensland Paediatric Cardiac Services, Lady Cilento Children’s Hospital, Brisbane, Queensland, Australia
 
School of Medicine, University of Queensland, Brisbane, Queensland, Australia
 
Mater Medical Research Institute, Brisbane, Queensland, Australia
by this author
, , FRACP1
 
Queensland Paediatric Cardiac Services, Lady Cilento Children’s Hospital, Brisbane, Queensland, Australia
by this author
, , MD1234
 
Queensland Paediatric Cardiac Services, Lady Cilento Children’s Hospital, Brisbane, Queensland, Australia
 
School of Medicine, University of Queensland, Brisbane, Queensland, Australia
 
Mater Medical Research Institute, Brisbane, Queensland, Australia
 
Paediatric Intensive Care, Lady Cilento Children’s Hospital, Brisbane, Queensland, Australia
by this author
,
, FRCPA235
 
School of Medicine, University of Queensland, Brisbane, Queensland, Australia
 
Mater Medical Research Institute, Brisbane, Queensland, Australia
 
Anatomic Pathology, Mater Health Services, Brisbane, Queensland, Australia
by this author
, , FRACS123
 
Queensland Paediatric Cardiac Services, Lady Cilento Children’s Hospital, Brisbane, Queensland, Australia
 
School of Medicine, University of Queensland, Brisbane, Queensland, Australia
 
Mater Medical Research Institute, Brisbane, Queensland, Australia
by this author
...
First Published Online: August 22, 2016

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.

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