Early and severe tricuspid valve dysplasia in a fetus with cardiospondylocarpofacial syndrome due to a variant c.616T>G p.(Tyr206Asp) in MAP3K7.

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 dysmorphisms, carpal-tarsal fusion, dorsal spine synostosis, deafness, inner ear malformations, cardiac septal defects and valve dysplasia. We present here a 20 weeks fetus with cardiospondylocarpofacial syndrome arising from a de novo variant c.616T>G p.(Tyr206Asp) in MAP3K7 (NM_145331.3) gene with early and severe tricuspid valve dysplasia as prenatal manifestation. Fetal echocardiography revealed tricuspid regurgitation with valve prolapse. Fetus had facial dysmorphism, dilated right atrium and right ventricle with tricuspid valve dysplasia on perinatal evaluation. To the best of our knowledge, it is the first report mentioning prenatal manifestation of cardiospondylocarpofacial syndrome. This article is protected by copyright. All rights reserved.