We present a 22-week fetus with isolated absent aortic valve and inverse circular shunt. The pregnancy was interrupted. Here, echocardiography and pathology images demonstrate this rare entity. Whole genome sequencing revealed a potentially disease-causing variant in the gene. Whole genome sequencing should be considered in severe and rare fetal diseases. ().
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| http://dx.doi.org/10.1016/j.jaccas.2023.101790 | DOI Listing |
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