A Rare Variant and Unusual Presentation of Holt Oram Syndrome in a Child

Area of Science:

• Genetics
• Pediatrics
• Cardiology

Background:

• Holt Oram syndrome is a rare genetic disorder impacting skeletal development, particularly the upper limbs, and cardiac function.
• It often presents with congenital heart defects, though family history and conduction abnormalities may vary.
• Diagnosis is usually clinical, but genetic testing may be necessary if criteria are not met.

Observation:

• This report details a rare case of Holt Oram syndrome in a five-year-old boy.
• The child exhibited unusual skeletal anomalies, specifically a hypoplastic humerus, alongside symmetrical bilateral radial defects.
• He presented with symptoms of breathlessness and palpitations, indicative of cardiac involvement.

Findings:

• The patient experienced three episodes of supraventricular tachycardia (SVT), successfully managed with adenosine and cardioversion.
• A unique combination of humerus involvement, bilateral radial defects, atrial septal defect (ASD), and SVT was observed.
• This specific constellation of findings is considered a rare manifestation of Holt Oram syndrome.

Implications:

• This case expands the known spectrum of skeletal and cardiac manifestations in Holt Oram syndrome.
• It underscores the importance of recognizing rare presentations, especially the association of humerus defects with SVT.
• Further research may explore correlations between skeletal severity and cardiac complications in Holt Oram syndrome.