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Puvabanditsin S, Puthenpura V, Gueye-Ndiaye S, et al. Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2. Ann Pediatr Cardiol. 2018;11(2):194-196doi: 10.4103/apc.APC_21_17.
Puvabanditsin, S., Puthenpura, V., Gueye-Ndiaye, S., Takyi, M., Madubuko, A., Walzer, L., & Mehta, R. (2018). Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2. Annals of pediatric cardiology, 11(2), 194-196. https://doi.org/10.4103/apc.APC_21_17
Puvabanditsin, Surasak, et al. "Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2." Annals of pediatric cardiology vol. 11,2 (2018): 194-196. doi: https://doi.org/10.4103/apc.APC_21_17
Puvabanditsin S, Puthenpura V, Gueye-Ndiaye S, Takyi M, Madubuko A, Walzer L, Mehta R. Congenital second-degree heart block and total anomalous pulmonary venous return associated with microduplication of 1q32.2. Ann Pediatr Cardiol. 2018 May-Aug;11(2):194-196. doi: 10.4103/apc.APC_21_17. PMID: 29922018; PMCID: PMC5963235.
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Ann Pediatr Cardiol. 2018 May-Aug;11(2):194-196. doi: 10.4103/apc.APC_21_17.

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

Annals of pediatric cardiology

Surasak Puvabanditsin, Vidya Puthenpura, Seyni Gueye-Ndiaye, Michele Takyi, Adaora Madubuko, Lauren Walzer, Rajeev Mehta

Affiliations

  1. Department of Pediatrics, Rutgers Robert Wood Johnson Medical School, New Brunswick, New Jersey, USA.

PMID: 29922018 PMCID: PMC5963235 DOI: 10.4103/apc.APC_21_17

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

Conflict of interest statement

There are no conflicts of interest.

References

  1. Am J Med Genet. 1994 Mar 1;50(1):21-7 - PubMed
  2. Fetal Diagn Ther. 2001 Sep-Oct;16(5):265-73 - PubMed
  3. Cardiovasc Clin. 1972;4(3):85-101 - PubMed
  4. Am J Med Genet A. 2003 Jul 15;120A(2):229-33 - PubMed
  5. Images Paediatr Cardiol. 2003 Jul;5(3):36-48 - PubMed
  6. Am J Med Genet A. 2009 Feb 15;149A(4):793-7 - PubMed
  7. J Am Coll Cardiol. 2002 Jan 2;39(1):130-7 - PubMed
  8. Teratology. 1991 Oct;44(4):415-28 - PubMed
  9. J Med Genet. 1997 Apr;34(4):309-13 - PubMed
  10. Hum Genet. 2005 Oct;118(1):133-7 - PubMed
  11. Prenat Diagn. 2007 Sep;27(9):865-71 - PubMed

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