Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities
Kristina Nimchenko, Bettina Bessieres, Gihad E Chalouhi, Antonia Pop, Vanina Castaigne, Bertrand Stos, Marie‐Paule Beaujard, Diane Roy, Daniela Laux, Tania Attie‐Bitach · 2026
Read Identification of a Novel De Novo HECW2 Gene Pathogenic Variant in a Fetus With Cardiac Abnormalities by Kristina Nimchenko, Bettina Bessieres, Gihad E Chalouhi, Antonia Pop, Vanina Castaigne, Bertrand Stos, Marie‐Paule Beaujard, Diane Roy, Daniela Laux, Tania Attie‐Bitach (2026) in the Tower of Babel, a free online library of public-domain works preserved in clean, searchable text. No sign-up. The full text is served as a plain-text file at a predictable URL, where text is present: https://antarctic-labs.com/tower-of-babel/PMC13571798.txt.
Description
Kristina Nimchenko and co-authors describe, in a 2026 prenatal case, a new variant in the HECW2 gene found in a fetus with severe heart disease. The gene was known mainly for developmental brain disorders, with little tying it to the heart. The parents were healthy and unrelated, and this was their sixth pregnancy.
Scans at twenty-one weeks showed a widened right ventricle and a narrowed lung artery. Later imaging found the right ventricle weakening and, by thirty-three weeks, fluid build-up across the fetus with a slow, irregular heartbeat near one hundred beats a minute. The fetus died a week later. The case strengthens the gene's rare heart picture and argues for heart scans and genetic screening in similar pregnancies.
Catalog record
| CREATOR | Kristina Nimchenko, Bettina Bessieres, Gihad E Chalouhi, Antonia Pop, Vanina Castaigne, Bertrand Stos, Marie‐Paule Beaujard, Diane Roy, Daniela Laux, Tania Attie‐Bitach |
|---|---|
| YEAR | 2026 |
| COLLECTION | PAPERS |
| FORMAT | TXT |
| FILE SIZE | 9770 |
| LICENSE | https://creativecommons.org/licenses/by/4.0 |
| RIGHTS | CC BY |
| SOURCE | Europe PMC |