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[Familial forms of interauricular communication of the ostium secundum type]
Insights
Familial atrial septal defects (ASD) are rare but can present with cardiac issues. This study suggests autosomal dominant inheritance in a family with multiple ASD cases.
Area of Science:
- Cardiology
- Genetics
- Pediatric Medicine
Background:
- Familial forms of atrial septal defects (ASD) are infrequently observed.
- These familial cases are often associated with cardiac lesions, atrioventricular block, prolonged PR interval, and large interatrial septal defects.
- Autosomal dominant inheritance is the suspected mode of transmission for familial ASD.
Observation:
- A family with seven documented cases of ASD was identified, with six undergoing surgical repair.
- No concurrent cardiac or extracardiac malformations were noted in the affected individuals.
- Atrioventricular conduction remained normal in four of the six surgically treated patients, all presenting with large defects.
Findings:
- The genealogical study and examination of family members strongly support autosomal dominant transmission.
- The absence of associated malformations in this family differentiates it from other familial ASD presentations.
Implications:
- This case highlights the importance of considering genetic factors in families with multiple ASD occurrences.
- Understanding the genetic basis of familial ASD can aid in genetic counseling and family screening.
- Further research into the specific genetic mutations responsible for this pattern of inheritance is warranted.
Abstract:
The occurrence of several cases of ASD in the same family is rare. Familial forms of ASD are characterised by the high incidence of associated cardiac lesions in affected patients or in the family, by the frequency of atrioventricular block with prolongation of the PR interval and by the presence of a large defect in the interatrial septum. The condition is thought to be transmitted in an autosomal dominant manner. The authors report the case of a family in which 7 cases of ASD were found, 6 of which were repaired surgically. There were no associated cardiac or extracardiac malformations; AV conduction was normal in 4 of the 6 operated cases--the defects were all large. The study of the genealogical tree with examination of most members of the family suggests autosomal dominant transmission of the condition.