Holt-oram syndrome in adult presenting with heart failure: a rare presentation

Area of Science:

• Genetics
• Cardiology
• Orthopedics

Background:

• Holt-Oram syndrome is a rare inherited disorder affecting upper limbs and heart.
• It is characterized by congenital cardiac and upper-limb malformations, classified as heart-hand syndromes.
• Septal defects and radial ray abnormalities are common features.

Purpose of the Study:

• To report a rare sporadic case of Holt-Oram syndrome.
• To describe the presentation of atrial septal defect with heart failure symptoms in an adult.
• To highlight the management of this rare condition.

Main Methods:

• Case report of a 45-year-old female patient.
• Clinical evaluation for congenital heart defects and limb malformations.
• Surgical intervention for cardiac anomaly.

Main Results:

• The patient presented with symptoms of heart failure due to an atrial septal defect.
• A rare sporadic form of Holt-Oram syndrome was diagnosed.
• Emergency cardiac surgery was performed.

Conclusions:

• Holt-Oram syndrome, though typically inherited, can occur sporadically.
• Adult presentation with severe cardiac symptoms is possible.
• Timely surgical intervention is crucial for managing cardiac complications.