Ventricular Septal Defect Closure in a Neonate with Osteogenesis Imperfecta

A male patient weighing 2.5 kg was admitted for respiratory difficulty, and a large ventricular septal defect (VSD) was diagnosed. During care, sudden right leg swelling with a femur shaft fracture occurred. The patient’s father had a history of recurrent lower extremity fractures; thus, osteogenesi...

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Bibliographic Details
Main Authors: Woo Sung Jang, Hee Jeong Choi, Jae Bum Kim, Jae Hyun Kim
Format: Article
Language:English
Published: Korean Society for Thoracic and Cardiovascular Surgery 2019-06-01
Series:Korean Journal of Thoracic and Cardiovascular Surgery
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Summary:A male patient weighing 2.5 kg was admitted for respiratory difficulty, and a large ventricular septal defect (VSD) was diagnosed. During care, sudden right leg swelling with a femur shaft fracture occurred. The patient’s father had a history of recurrent lower extremity fractures; thus, osteogenesis imperfecta was considered. The patient’s respiratory difficulty became aggravated, and VSD repair in the neonatal period was therefore performed with gentle sternal traction and great vessel manipulation under total intravenous anesthesia to prevent malignant hyperthermia. The patient was discharged without notable problems, except minor wound dehiscence. Outpatient genetic testing revealed that the patient had a COL1A1/COL1A2 mutation.
ISSN:2233-601X
2093-6516