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Editorial
. 2009 Jul 28;120(4):269-71.
doi: 10.1161/CIRCULATIONAHA.109.878637. Epub 2009 Jul 13.

Heart malformation: what are the chances it could happen again?

Joseph T C Shieh, Deepak Srivastava
Editorial

Heart malformation: what are the chances it could happen again?

Joseph T C Shieh et al. Circulation. .
No abstract available

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Figures

Fig. 1
Fig. 1
Multifactorial Etiology of Congenital Heart Disease. A parent may harbor a genetic predisposition to disease (susceptibility allele) and transmit this genetic risk to offspring. However, this would only result in congenital heart disease in conjunction with variants in other genetic loci or with epigenetic factors, resulting in disease penetrance. The susceptibility allele alone may not be sufficient to cause disease in offspring (non-penetrance), but the individual would still be at risk for vertical transmission of increased risk.
Fig. 2
Fig. 2
Epigenetic Regulation of Gene Expression. In addition to genetic variation affecting gene expression, cellular levels of proteins can be regulated by many non-genetic mechanisms, including histone modifications (e.g., acetylation) affecting chromatin structure; DNA methylation of CpG residues affecting transcription; or microRNA interaction with mRNA targets leading to translational regulation.
See this image and copyright information in PMC

Comment on

  • Recurrence of congenital heart defects in families.
    Øyen N, Poulsen G, Boyd HA, Wohlfahrt J, Jensen PK, Melbye M. Øyen N, et al. Circulation. 2009 Jul 28;120(4):295-301. doi: 10.1161/CIRCULATIONAHA.109.857987. Epub 2009 Jul 13. Circulation. 2009. PMID: 19597048

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