Key result
Case report details Holt-Oram syndrome presenting with membranous VSD, severe pulmonary hypertension, and upper limb anomalies.
Case Report (n=1)
No
This case demonstrates that Holt-Oram syndrome can be effectively diagnosed using clinical criteria and basic imaging in resource-limited settings where genetic testing is unavailable.
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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Getachew et al. (2026) conducted a case report in Holt-Oram syndrome (n=1). Holt-Oram syndrome was evaluated. An 18-year-old Ethiopian male was diagnosed with Holt-Oram syndrome based on clinical criteria, presenting with a membranous VSD, severe pulmonary hypertension, and upper limb anomalies.
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