Related Experiment Videos
The upper limb-cardiovascular syndrome, (Holt-Oram syndrome)
Clinical Orthopaedics and Related Research
|May 1, 1976
Insights
Upper limb-cardiovascular syndrome shows varied expression. All children with upper limb congenital anomalies need cardiac evaluation to detect potential heart issues.
Area of Science:
- Genetics
- Cardiology
- Orthopedics
Background:
- Upper limb-cardiovascular syndrome presents with a spectrum of clinical manifestations.
- Genetic and environmental factors contribute to congenital anomalies.
Observation:
- Studied two families with variable expression of upper limb-cardiovascular syndrome.
- Observed four additional patients with limb and cardiac anomalies and no clear family history.
Findings:
- The syndrome's expression is highly variable, even within families.
- Spontaneous mutations or reduced penetrance may explain cases without a family history.
- Phenotypic variability necessitates careful clinical assessment.
Implications:
- Children treated for upper limb congenital anomalies require comprehensive cardiac screening.
- Early cardiac assessment can prevent complications associated with undiagnosed cardiovascular issues.
- Understanding syndrome variability aids in accurate diagnosis and management.
Abstract:
Two families recently studied demonstrate the variability of expression of upper limb-cardiovascular syndrome. Four other patients with upper limb and cardiac anomalies and no significant family history may represent spontaneous mutations or examples impenetrance in antecedent generations, rather than phenocopies of the syndrome. Children under the care of the orthopedist for congenital anomalies of the upper limb should have a complete cardiac assessment.