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

Area of Science:

• Genetics and Developmental Biology
• Cardiology
• Pulmonology

Background:

• Holt-Oram syndrome is characterized by congenital heart and upper limb abnormalities.
• Lung involvement is an uncommon manifestation of Holt-Oram syndrome.
• Early diagnosis and management are crucial for affected individuals.

Observation:

• A 1-year-old male presented with upper limb malformations and respiratory distress.
• Diagnostic workup revealed pulmonary agenesis and an atrial septal defect.
• Pulmonary arterial hypertension was identified as secondary to the cardiac defect.

Findings:

• The patient exhibited a rare combination of skeletal, cardiac, and pulmonary anomalies.
• Pulmonary agenesis, a severe lung malformation, was diagnosed.
• Atrial septal defect led to secondary pulmonary arterial hypertension.

Implications:

• This case expands the known spectrum of Holt-Oram syndrome manifestations.
• Highlights the importance of thorough respiratory evaluation in affected children.
• Suggests a need for integrated care involving cardiology, pulmonology, and orthopedic specialists.