Congenital heart defects are responsible for a substantial proportion of infant mortality and morbidity. Atrial septal defects (ASD) account for approximately 15% of all congenital heart defects. Autosomal dominant inheritance is possible for atrial septal defect with or without atrio-ventricular block. Atrial septal defect is the most frequent cardiac defect in the Holt-Oram syndrome, a rare cardio-skeletal disorder. Relationship between Holt-Oram syndrome and familial atrial septal defects is incompletly known. A gene for Holt-Oram Syndrome maps to chromosome 12q23-24. The aim of our study has been to evalue the possible linkage to chromosome 12q23-24 for autosomal dominant atrial septal defect. Eight affected individuals and 32 non affected belonging to one non consanguineous family were tested using microsatellites DNA markers mapping to this region. Our study demostrated that the gene responsible for atrial septal defect in our patients is not closely linked to the Holt-Oram syndrome locus. These results underline the genetic heterogeneity of atrial septal defects.
|Translated title of the contribution||Genetic heterogeneity in interatrial defect|
|Number of pages||4|
|Journal||Rivista Italiana di Pediatria|
|Publication status||Published - 1997|
ASJC Scopus subject areas
- Pediatrics, Perinatology, and Child Health