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. Author manuscript; available in PMC: 2017 Mar 1.
Published in final edited form as: Clin Perinatol. 2016 Mar;43(1):39–53. doi: 10.1016/j.clp.2015.11.002

Table 1.

Causes of Cardiovascular Malformations

Cause Example Characteristic CVMs
Environmental/teratogenic Lithium Chloride Ebstein’s anomaly
Genetic
  Chromosomal Trisomy 21 Atrioventricular canal defect
  Contiguous gene/CNV 22q11.2 deletion syndrome Conotruncal malformations
  Single gene Noonan syndrome Pulmonary valve stenosis
Epigenetic
  DNA methylation De novo SMAD2 mutations Conotruncal malformations
LV obstructions
Heterotaxy