Table 1.
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 |