Agenesis of right diaphragm in the adults: a diagnostic dilemma

Area of Science:

• Medical Science
• Surgical Innovation
• Congenital Abnormalities

Background:

• Diaphragmatic agenesis is a rare and severe congenital diaphragmatic defect, often diagnosed in infancy.
• It is frequently associated with genetic anomalies and has a high mortality rate if untreated.
• While typically an infant diagnosis, survival into adulthood is possible.

Observation:

• An adult female presented with progressive shortness of breath during her third trimester of pregnancy.
• The patient had complete agenesis of the right side of the diaphragm.
• This condition significantly impacts respiratory function, especially under physiological stress like pregnancy.

Findings:

• Surgical reconstruction of the diaphragm was performed using a polypropylene mesh.
• The patient experienced symptomatic improvement following the procedure.
• Post-operative evaluation showed good lung expansion, indicating successful repair.

Implications:

• This case demonstrates the feasibility and effectiveness of diaphragmatic reconstruction in adult patients with agenesis.
• Surgical intervention can significantly improve respiratory outcomes and quality of life for adults with this rare condition.
• Further research into long-term outcomes and management strategies for adult diaphragmatic agenesis is warranted.