Ventricular Septal Defect Closure in a Child With Osteogenesis Imperfecta: Risk Factors and Management

Panda, Biswa Ranjan; Pandey, Ragini; Ranger, Michael; Anderson, Benjamin W.; Karl, Tom R.; Alphonso, Nelson

doi:10.1016/j.athoracsur.2013.06.116

Cited by 2 publications

(1 citation statement)

References 9 publications

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“…Furthermore, few cases have been reported of congenital heart disease in individuals with OI. A previous report described VSD closure in a 6-year-old with OI, which is youngest age for which such an operation has been reported [8]. This is the first report of congenital heart surgery in a neonate with OI, and it demonstrates that open heart surgery can be performed safely in neonates with OI.…”

Section: Discussionmentioning

confidence: 59%

Ventricular Septal Defect Closure in a Neonate with Osteogenesis Imperfecta

Jang

Choi

Kim

2019

Korean J Thorac Cardiovasc Surg

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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.

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Section: Discussionmentioning

confidence: 59%

Ventricular Septal Defect Closure in a Neonate with Osteogenesis Imperfecta

Jang

Choi

Kim

2019

Korean J Thorac Cardiovasc Surg

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Case Series of 6 Fetuses With Osteogenesis Imperfecta Type II: A Retrospective Study of Heart Pathology

Verdonk,

Storoni,

Zhytnik

et al. 2024

Pediatr Dev Pathol

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Introduction: Osteogenesis imperfecta (OI) is a rare genetic disorder characterized by bone fragility. While skeletal manifestations are well documented, few studies have explored the effect of OI on the fetal heart. This retrospective case series investigates cardiac pathology in OI type II fetuses, aiming to address this gap. Methods: Medical records and autopsy reports of 6 genetically confirmed OI type II cases were examined. Fetuses had pathogenic variants in COL1A1 or PPIB, inducing structural defects in collagen type I. In addition to hematoxylin and eosin and Elastic van Gieson staining, the expression of collagen type I, COL1A1 and COL1A2 chains was examined by immunohistochemistry. Results: Immunohistochemistry confirmed robust expression of collagen type I throughout the heart. Five fetuses had normal heart weight, while 1 had a low heart weight in the context of generalized growth retardation. None displayed structural heart anomalies. Conclusion: This study reveals robust collagen type I expression in the hearts of OI type II fetuses without structural anomalies. We hypothesize that collagen type I abnormalities may not be causative factors for heart anomalies during early embryonic development. Instead, their impact may be conceivably related to an increased susceptibility to degenerative changes later in life.

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Ventricular Septal Defect Closure in a Child With Osteogenesis Imperfecta: Risk Factors and Management

Cited by 2 publications

References 9 publications

Ventricular Septal Defect Closure in a Neonate with Osteogenesis Imperfecta

Ventricular Septal Defect Closure in a Neonate with Osteogenesis Imperfecta

Case Series of 6 Fetuses With Osteogenesis Imperfecta Type II: A Retrospective Study of Heart Pathology

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