Key result
Novel TAB2 loss-of-function variant underlies familial polyvalvular dysplasia and congenital heart disease.
Why the study?
A novel TAK1-binding protein 2 pathogenic variant was identified as a genetic cause of familial polyvalvular dysplasia in individuals with congenital heart disease.
Case Report (n=3)
Supports targeted genetic testing in familial congenital valvular disease; leaves open need for replication in larger cohorts.
This case presents a family with multiple individuals diagnosed with congenital heart disease (CHD) secondary to a novel TAK1-binding protein 2 pathogenic variant. This case advocates the use of cardiovascular genetic testing in individuals with CHD as part of a comprehensive approach to managing infants with CHD. (Level of Difficulty: Advanced.)
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McKinney et al. (2023) conducted a case report in Congenital heart disease and polyvalvular dysplasia (n=3). TAB2 pathogenic variant (c.964C>T) was evaluated on Identification of genetic etiology. Genetic testing identified a novel loss-of-function pathogenic variant in the TAB2 gene (c.964C>T) responsible for familial polyvalvular dysplasia and congenital heart disease.
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