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Holt-Oram syndrome associated with hypoplastic peripheral vasculature and midsystolic click
1Medical College of Georgia, Department of Medicine, Augusta 30912.
Insights
Holt-Oram syndrome (HOS) typically presents with limb and heart issues. This case highlights a rare HOS presentation with both underdeveloped upper limb blood vessels and mitral valve prolapse.
Area of Science:
- Genetics and Developmental Biology
- Cardiovascular Medicine
- Orthopedic Surgery
Background:
- Holt-Oram syndrome (HOS) is an autosomal dominant disorder.
- Characterized by congenital heart defects and upper limb abnormalities.
- Common cardiac defects include atrial septal defects (ASD) and ventricular septal defects (VSD).
Observation:
- This report details a rare case of HOS.
- The patient exhibited hypoplastic peripheral vasculature in the upper extremities.
- The patient also showed evidence of mitral valve prolapse (MVP).
Findings:
- This case expands the known spectrum of HOS manifestations.
- It underscores the importance of thorough cardiovascular and vascular assessment in HOS patients.
- The co-occurrence of hypoplastic vasculature and MVP in HOS is exceptionally rare.
Implications:
- Highlights the need for comprehensive diagnostic approaches in HOS.
- Suggests potential genotype-phenotype correlations for rarer HOS features.
- Informs clinical management and genetic counseling for affected families.
Abstract:
Holt-Oram syndrome is a rare, autosomal dominant syndrome characterized by upper extremity skeletal abnormalities and cardiac defects. The most common skeletal anomalies involve the thumbs and range from minor radiographic abnormalities to phocomelia. The most common cardiovascular abnormality is ostium secundum ASD, followed by ventriculo-septal defect and ostium primum ASD. MVP and hypoplastic peripheral vasculature of the upper extremities have been reported only rarely. We have reported the case of a patient with HOS who has both hypoplastic peripheral upper extremity vasculature and evidence of MVP.