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Holt-Oram syndrome in a Puerto Rican family--case reports
1Department of Medicine, George Washington University School of Medicine and Health Sciences, Washington, D.C.
Insights
Holt-Oram syndrome, a genetic disorder, is described in a Puerto Rican family. This report details upper limb anomalies and atrial septal defects, including a rare persistent left superior vena cava in one patient.
Area of Science:
- Genetics
- Cardiology
- Medical Genetics
Background:
- Holt-Oram syndrome is an autosomal dominant disorder characterized by congenital heart defects and upper limb abnormalities.
- It is typically associated with mutations in the T-box transcription factor gene TBX5.
- Previous reports have documented a range of cardiac and limb malformations.
Observation:
- This study reports the first known cases of Holt-Oram syndrome in a Puerto Rican family, involving a mother and her two daughters.
- All affected individuals presented with severe upper limb anomalies and secundum atrial septal defects.
- The proband exhibited an additional cardiac anomaly: a persistent left superior vena cava.
Findings:
- The Puerto Rican family presented with a unique constellation of Holt-Oram syndrome manifestations.
- The presence of secundum atrial septal defect was consistent across all affected members.
- A persistent left superior vena cava, not previously associated with Holt-Oram syndrome, was identified in the proband.
Implications:
- This case expands the known phenotypic spectrum of Holt-Oram syndrome.
- It highlights the importance of genetic counseling and early diagnosis in affected families.
- Further research may elucidate the genetic basis for the observed persistent left superior vena cava in this context.
Abstract:
The Holt-Oram syndrome is reported for the first time in a Puerto Rican family of one mother and two daughters. All had severe upper limb anomalies and secundum atrial septal defect. One daughter, the proband, had, in addition, a persistent left superior vena cava, a cardiac anomaly that has not been previously reported in association with the Holt-Oram syndrome.