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Unusual cardiac malformations in Holt-Oram syndrome: report of two cases
1Department of Pediatrics, National Cheng-Kung University Hospital, Tainan, Taiwan, R.O.C.
Zhonghua Minguo Xiao Er Ke Yi Xue Hui Za Zhi [Journal]. Zhonghua Minguo Xiao Er Ke Yi Xue Hui
|March 1, 1991
Insights
Holt-Oram syndrome, a genetic disorder, typically causes limb and heart defects. This report details two rare cases with unusual cardiac presentations, including unroofing coronary sinus atrial septal defect and pentalogy of Fallot.
Area of Science:
- Genetics
- Cardiology
- Developmental Biology
Background:
- Holt-Oram syndrome is an autosomal dominant disorder characterized by upper limb malformations and congenital heart defects.
- Secundum atrial septal defect is the most common cardiac anomaly associated with Holt-Oram syndrome.
Observation:
- This study reports two pediatric cases of Holt-Oram syndrome with atypical cardiac findings.
- Case 1 presented with an unroofing coronary sinus type atrial septal defect and Wolff-Parkinson-White syndrome (preexcitation).
- Case 2 exhibited pentalogy of Fallot, a complex cyanotic heart defect.
Findings:
- The findings highlight the variable spectrum of cardiac anomalies in Holt-Oram syndrome beyond the typical secundum atrial septal defect.
- Unroofing coronary sinus atrial septal defect and preexcitation syndrome represent a rare association.
- Pentalogy of Fallot is an exceptionally uncommon cardiac defect in Holt-Oram syndrome.
Implications:
- These cases expand the understanding of cardiac manifestations in Holt-Oram syndrome.
- Early recognition of these unusual cardiac defects is crucial for timely intervention and improved patient outcomes.
- Further research into genotype-phenotype correlations may elucidate the mechanisms behind these atypical presentations.
Abstract:
The Holt-Oram syndrome is a hereditary disease which associated with upper limbs anomalies and cardiac defects such as secundum type atrial septal defect. Two cases of this syndrome with unusual cardiac findings are reported: One has an unroofing coronary sinus type atrial septal defect and preexcitation syndrome, the other has pentalogy of Fallot.