Isolated CHDs are caused by variants in genes encoding transcription factors, signaling molecules, or structural proteins important in cardiac development, structure and function. Most cases of isolated CHDs occur sporadically without a strong family history. Cardiac malformations can include atrial septal defects, tetralogy of Fallot, and left-sided lesions. 5–10% of sporadic isolated CHDs can be due to a copy number variant. Some CNVs are mapping in chromosomal regions previously known to contain genes pathogenetically related to CHDs.
Pierpont et al. 2018, Circulation. Nov 20;138