Ventricular Septal Defect Closure in a Neonate with Osteogenesis Imperfecta.

Area of Science:

• Pediatric Cardiology
• Orthopedics
• Medical Genetics

Background:

• A neonate presented with respiratory distress and a large ventricular septal defect (VSD).
• The patient also experienced sudden leg swelling and a femur shaft fracture.
• A family history of recurrent fractures suggested a possible genetic bone disorder.

Observation:

• Osteogenesis imperfecta was suspected due to the fracture history and presentation.
• The patient's respiratory condition worsened, necessitating prompt VSD repair.
• Surgical repair of the VSD was performed using total intravenous anesthesia, carefully managing sternal traction and great vessel manipulation to avoid complications like malignant hyperthermia.

Findings:

• Genetic testing confirmed a COL1A1/COL1A2 mutation, diagnosing osteogenesis imperfecta.
• The VSD repair was technically successful.
• The patient was discharged with only minor wound dehiscence, indicating a favorable outcome.

Implications:

• This case highlights the importance of considering genetic bone disorders in neonates with VSD and fractures.
• Early diagnosis and management of both cardiac and skeletal issues are crucial for improved outcomes.
• The successful surgical intervention underscores the feasibility of managing complex congenital heart disease in patients with underlying genetic conditions.