Ventricular Septal Defect Closure in a Neonate with Osteogenesis Imperfecta
10.5090/kjtcs.2019.52.3.162
- Author:
Woo Sung JANG
1
;
Hee Jeong CHOI
;
Jae Bum KIM
;
Jae Hyun KIM
Author Information
1. Department of Thoracic and Cardiovascular Surgery, Keimyung University Dongsan Medical Center, Keimyung University School of Medicine, Daegu, Korea. whiteuri@dsmc.or.kr
- Publication Type:Case Report
- Keywords:
Osteogenesis imperfecta;
Malignant hyperthermia;
Cardiac surgery
- MeSH:
Anesthesia, Intravenous;
Fathers;
Femur;
Genetic Testing;
Heart Septal Defects, Ventricular;
Humans;
Infant, Newborn;
Leg;
Lower Extremity;
Male;
Malignant Hyperthermia;
Osteogenesis Imperfecta;
Osteogenesis;
Outpatients;
Thoracic Surgery;
Traction;
Wounds and Injuries
- From:The Korean Journal of Thoracic and Cardiovascular Surgery
2019;52(3):162-164
- CountryRepublic of Korea
- Language:English
-
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.
