Center for Medical Ethics and Health Policy Staff Publications
Publication Date
9-21-2022
Journal
Journal of Cardiovascular Development and Disease
DOI
10.3390/jcdd9100315
PMID
36286267
PMCID
PMC9604382
PubMedCentral® Posted Date
9-21-2022
PubMedCentral® Full Text Version
Post-print
Published Open-Access
yes
Keywords
hypoplastic left heart syndrome, cardiovascular malformations, birth defects, genetics, genomics, inborn errors of development
Abstract
Hypoplastic left heart syndrome (HLHS) is among the most severe cardiovascular malformations and understanding its causes is crucial to making progress in prevention and treatment. Genetic analysis is a broadly useful tool for dissecting complex causal mechanisms and it is playing a significant role in HLHS research. However, unlike classical Mendelian disorders where a relatively small number of genes are largely determinative of the occurrence and severity of the disease, the picture in HLHS is complex. De novo single-gene and copy number variant (CNV) disorders make an important contribution, but there is emerging evidence for causal contributions from lower penetrance and common variation. Integrating this emerging knowledge into clinical diagnostics and translating the findings into effective prevention and treatment remain challenges for the future.