Polyvalvular dysplasia related to haploinsufficiency of the TAB2 gene in Indian children – A disease with need for careful follow-up

Polyvalvular dysplasia, characterized by abnormalities involving more than two cardiac valves, may be associated with chromosomal and genetic abnormalities. A genetic diagnosis is often not pursued as it is perceived that it does not alter clinical management. Microdeletions of the long arm of chromosome 6, which include the TAB2 gene, as well as truncating variants in the TAB2 gene, result in a syndromic form of polyvalvular dysplasia and dysmorphism. A subset of children and adults with this disease may develop dilated cardiomyopathy and would hence need careful follow-up. We report two Indian children with TAB2-related polyvalvular dysplasia and normal ventricular function.