Yitagesu Getachew, Abera Birhanu, Samson Mulugeta, Balew Arega, Begashaw Belay, Amdemeskel Mersha, Banchiaymolu Damtie, Abel Yirga, Eba Fufa, Ibrahim Kemal, Brook Fanuel
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.
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.