Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2

Abstract

We report a term female infant with congenital heart block and total anomalous of pulmonary venous return. The results of single nucleotide polymorphism oligonucleotide microarray analysis showed an interstitial duplication of approximately 818 Kb, which involved 11 genes, including the entire LAMB3 gene which is known to associate with cardiac conduction defect. Our report adds to the collective knowledge that the cardiac conduction defect is a clinical feature of chromosome 1q32.2 duplication.

Keywords

• 1q32 microduplication
• congenital
• congenital heart block
• total anomalous pulmonary venous return