Document Type

Article

Publication Date

2026

Abstract

This case study describes a six-month old female with 22q11.2 deletion (DiGeorge Syndrome) presenting with low oxygen levels, pre diagnosed of a complex congenital pathology of Tetralogy of Fallot (TOF)/Pulmonary Atresia (PA)/Major Aortopulmonary Collateral Arteries (MAPCAS) in fetal echocardiogram and is scheduled for surgical repair. The transthoracic echocardiogram showed a ventricular septal defect, aortic override, right ventricular hypertrophy, hypoplastic branch pulmonary arteries with confluence, and flow from major aortopulmonary arteries. First, the patient went into catheterization for assessment of the patient’s hemodynamics and pulmonary vessels, which results showed no hemodynamic instability or arrythmias. Weeks later, surgery was performed resulting in a successful unifocalization and repair with no complications. The patient was discharged once stable after recovery. This patient is to have routine follow up echoes to monitor pulmonary vascular resistance and improvement in the cardiac output. The purpose and goal are to have no residual defects, symptoms, and proper restoration of normal blood flow and cardiac structures. After surgical repair, patients facing similar circumstances can live healthy and normal lives.

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