Twin-twin transfusion syndrome recipient with arterial calcification and heterozygous variant in ABCC6: Evidence of a gene-environment interaction?
Journal
Prenatal diagnosis
ISSN: 1097-0223
Titre abrégé: Prenat Diagn
Pays: England
ID NLM: 8106540
Informations de publication
Date de publication:
07 2023
07 2023
Historique:
revised:
30
05
2023
received:
04
05
2023
accepted:
04
06
2023
medline:
18
7
2023
pubmed:
13
6
2023
entrez:
13
6
2023
Statut:
ppublish
Résumé
We report a case of a twin-twin transfusion syndrome (TTTS) recipient who, after successful fetoscopic surgery, developed a large pericardial effusion and calcifications of the aorta and main pulmonary artery. The donor fetus never had cardiac strain and never developed cardiac calcifications. A heterozygous likely pathogenic variant in ABCC6 (c.2018T > C, p.Leu673Pro) was identified in the recipient twin. While TTTS recipient twins are at risk of arterial calcifications and right heart failure secondary to the disease, calcifications of the great vessels are also observed in generalized arterial calcification of infancy, a Mendelian genetic disorder with associated biallelic pathogenic variations in ABCC6 or ENPP1, which can result in significant pediatric morbidity or mortality. The recipient twin in this case had some degree of cardiac strain prior to TTTS surgery; however, the progressive calcification of the aorta and pulmonary trunk occurred weeks after TTTS resolution. This case raises the possibility of a gene-environment interaction and emphasizes the need for genetic evaluation in the setting of TTTS and calcifications.
Substances chimiques
ABCC6 protein, human
0
Multidrug Resistance-Associated Proteins
0
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1092-1095Informations de copyright
© 2023 The Authors. Prenatal Diagnosis published by John Wiley & Sons Ltd.
Références
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