Ventricular Septal Defect Closure in a Neonate with Osteogenesis Imperfecta.

Ventricular Septal Defect Closure in a Neonate with Osteogenesis Imperfecta. Korean J Thorac Cardiovasc Surg. 2019 Jun;52(3):162-164 Authors: Jang WS, Choi HJ, Kim JB, Kim JH Abstract 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. PMID: 31236376 [PubMed]
Source: Korean Journal of Thoracic and Cardiovascular Surgery - Category: Cardiovascular & Thoracic Surgery Tags: Korean J Thorac Cardiovasc Surg Source Type: research