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Holt-Oram Syndrome With Complex Cardiac and Limb Anomalies in an Ethiopian Patient: A Case Report
Yitagesu Getachew1, Abera Birhanu1, Samson Mulugeta1
1Department of Internal Medicine, Yekatit 12 Hospital Medical College, Addis Ababa, Ethiopia.
Introduction:
Holt-Oram syndrome (HOS) is a rare autosomal dominant disorder characterized by upper limb and congenital heart anomalies, with an estimated incidence of 1 in 100,000 live births.
Case Report:
An 18-year-old Ethiopian male with a history of congenital heart disease presented with progressive dyspnea and limb deformities. Imaging confirmed a membranous ventricular septal defect, severe pulmonary hypertension, mitral and tricuspid regurgitation, and skeletal anomalies, including thumb hypoplasia and absent distal radial bone.
Conclusion:
This case underscores the importance of early diagnosis and multidisciplinary management of HOS, especially in resource-limited settings where genetic testing is unavailable. Increased awareness can facilitate timely intervention and improve patient outcomes.
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