Holt-Oram Syndrome with Pulmonary Involvement—A Valuable Algorithm to Follow

Abstract

Holt-Oram syndrome comprises a rare spectrum of congenital cardiovascular and appendicular skeletal anomalies. However, only a few cases have reported lung involvement in Holt-Oram syndrome. We reported the rare case of a 1-year-old male child patient who presented with upper limb abnormalities and respiratory distress and was diagnosed with pulmonary agenesis and pulmonary arterial hypertension secondary to an atrial septal defect.

Keywords

• lung agenesis
• Holt-Oram syndrome
• posterior lung herniation
• horseshoe lung
• cardiac limb syndrome