Identifying Genetic Modifiers in the Age of Exome: Current Considerations

Purpose of review There is an increasing recognition that structural abnormalities and functional changes in the placenta can have deleterious effects on the development of the fetal heart. This article reviews the role of the placenta and the potential impact of placental insufficiency on fetuses with congenital heart disease. Recent findings The fetal heart and the placenta are directly linked because they develop concurrently with shared regulatory and signaling pathways. Placental disease is more common in pregnancies carrying a fetus with congenital heart disease and the fetal response to placental insufficiency may lead to the postnatal persistence of cardiac remodeling. The mechanisms underlying this placental–fetal axis of interaction potentially include genetic factors, oxidative stress, chronic hypoxia, and/or angiogenic imbalance. Summary The maternal–placental–fetal circulation is critical to advancing our understanding of congenital heart disease. We must first expand our ability to detect, image, and quantify placental insufficiency and dysfunction in utero. Elucidating the modifiable factors involved in these pathways is an exciting opportunity for future research, which may enable us to improve outcomes in patients with congenital heart disease.

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The placenta as the window to congenital heart disease

Cohen

Rychik

Savla

2020

Current Opinion in Cardiology

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Identifying Genetic Modifiers in the Age of Exome: Current Considerations

Cited by 1 publication

References 23 publications

The placenta as the window to congenital heart disease

The placenta as the window to congenital heart disease

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