Recurrence of atrial septal defect in three generations
C Ferreira1, L M Farah, R M Póvoa
1Universidade Federal de São Paulo, EPM, Brazil.
Arquivos Brasileiros De Cardiologia
|February 7, 2001
Summary
This study investigates familial atrial septal defects (ASD), revealing an autosomal recessive inheritance pattern. Early genetic screening is crucial for detecting asymptomatic carriers and ensuring timely treatment for affected individuals.
Area of Science:
- Cardiology
- Genetics
- Pediatric Medicine
Background:
- Atrial septal defect (ASD) of the secundum type can exhibit familial clustering.
- Previous studies suggested an autosomal recessive transmission for ASD in this family.
- The identification of a fifth affected individual prompted re-evaluation of the genetic mechanism.
Purpose of the Study:
- To elucidate the genetic transmission patterns of secundum atrial septal defects within a multi-generational family.
- To investigate potential alternative genetic mechanisms, such as uniparental disomy, in familial ASD.
- To emphasize the importance of genetic-clinical studies for early detection of asymptomatic ASD carriers.
Main Methods:
- Genealogical investigation of affected individuals across three generations.
- Clinical confirmation of atrial septal defects.
- Analysis of family history, consanguinity, and parental phenotypes.
- Consideration of genetic mechanisms including autosomal recessive inheritance and uniparental disomy.
Main Results:
- Four individuals across three generations presented with anatomically similar secundum ASDs.
- An autosomal recessive transmission pattern was initially proposed.
- A fifth affected individual, born to non-consanguineous parents (one being a family member), suggested possible uniparental disomy or a complex inheritance pattern.
- Parents of the fifth individual were phenotypically normal, highlighting the challenge of carrier detection.
Conclusions:
- Familial occurrence of secundum ASD can be driven by complex genetic mechanisms.
- Autosomal recessive inheritance and uniparental disomy are potential explanations for ASD recurrence in this family.
- Genetic-clinical studies are essential for identifying asymptomatic carriers within affected families.
- Early detection and intervention are critical for individuals with familial ASD.
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