ArticleCase reports in cardiology2026
Holt-Oram Syndrome With Complex Cardiac and Limb Anomalies in an Ethiopian Patient: A Case Report.
Article in Case reports in cardiology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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1 citing paper in PubMed.
- Holt-Oram Syndrome With Complex Cardiac and Limb Anomalies in an Ethiopian Patient: A Case Report.Case reports in cardiology · 2026Article
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11 authors.
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Abstract
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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