TY - JOUR
T1 - Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7
AU - Vasishta, Subrahmanya
AU - Teli, Akkatai S.
AU - Vasudeva, Akhila
AU - Girisha, Katta M.
AU - Nayak, Shalini S.
N1 - Funding Information:
The authors thank the family for their cooperation and Department of Biotechnology, Government of India (grant number BT/PR40007/MED/97/490/2020) for the fund.
Publisher Copyright:
© 2023 John Wiley & Sons Ltd.
PY - 2023/6
Y1 - 2023/6
N2 - Cardiospondylocarpofacial syndrome (CSCF; MIM#157800) is a rare condition caused by monoallelic variants in the MAP3K7 gene. The characteristic features of CSCF include growth retardation, facial dysmorphism, carpal-tarsal fusion, dorsal spine synostosis, deafness, inner ear malformation, cardiac septal defect and valve dysplasia. We present here a 20-week-old fetus with cardiospondylocarpofacial syndrome arising from a de novo variant c.616T>G p.(Tyr206Asp) in the MAP3K7 (NM_145331.3) gene with early and severe tricuspid valve dysplasia as a prenatal manifestation. Fetal echocardiography revealed tricuspid regurgitation with valve prolapse. Fetus had facial dysmorphism and dilated right atrium and right ventricle with tricuspid valve dysplasia on perinatal evaluation. To the best of our knowledge, this is the first report mentioning the prenatal manifestation of cardiospondylocarpofacial syndrome.
AB - Cardiospondylocarpofacial syndrome (CSCF; MIM#157800) is a rare condition caused by monoallelic variants in the MAP3K7 gene. The characteristic features of CSCF include growth retardation, facial dysmorphism, carpal-tarsal fusion, dorsal spine synostosis, deafness, inner ear malformation, cardiac septal defect and valve dysplasia. We present here a 20-week-old fetus with cardiospondylocarpofacial syndrome arising from a de novo variant c.616T>G p.(Tyr206Asp) in the MAP3K7 (NM_145331.3) gene with early and severe tricuspid valve dysplasia as a prenatal manifestation. Fetal echocardiography revealed tricuspid regurgitation with valve prolapse. Fetus had facial dysmorphism and dilated right atrium and right ventricle with tricuspid valve dysplasia on perinatal evaluation. To the best of our knowledge, this is the first report mentioning the prenatal manifestation of cardiospondylocarpofacial syndrome.
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U2 - 10.1002/pd.6358
DO - 10.1002/pd.6358
M3 - Article
C2 - 37160697
AN - SCOPUS:85159928226
SN - 0197-3851
VL - 43
SP - 721
EP - 723
JO - Prenatal Diagnosis
JF - Prenatal Diagnosis
IS - 6
ER -