JACC. Case reports, 2023-04, Vol.11, p.101790, Article 101790
2023
Details
- Autor(en) / Beteiligte
- Titel
- Isolated Absent Aortic Valve
- Ist Teil von
- JACC. Case reports, 2023-04, Vol.11, p.101790, Article 101790
- Ort / Verlag
- Elsevier Inc
- Erscheinungsjahr
- 2023
- Link zum Volltext
- Quelle
- Alma/SFX Local Collection
- Beschreibungen/Notizen
- 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 APC gene. Whole genome sequencing should be considered in severe and rare fetal diseases. (Level of Difficulty: Advanced.) [Display omitted]
- Sprache
- Englisch
- Identifikatoren
- ISSN: 2666-0849eISSN: 2666-0849DOI: 10.1016/j.jaccas.2023.101790Titel-ID: cdi_crossref_primary_10_1016_j_jaccas_2023_101790
- Format
- –
- Schlagworte
- aortic valve, fetal diagnosis, fetal echocardiography, whole genome sequencing