Article

A Novel Missense Mutation in the TNNT2 Gene in a Lebanese Pedigree with Ebstein Anomaly and Wolf-Parkinson-White Syndrome: A Case Report

2025-08-03

Abstract excerpt

Ebstein anomaly (EA) is a rare congenital heart defect with variable clinical presentations and associations. In our case report, we present two cases of familial EA with Wolff-Parkinson-White syndrome (WPW) in a two-generation family. Whole Exome Sequencing identified a possibly damaging variant in the TNNT2 gene, coding for cardiac muscle troponin T. A missense Cytosine single nucleotide substitution with Thymin...

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Literature Corpus work: 937c3b39-7152-58d7-935b-e87985373058
DOI: 10.22541/au.175420086.60591325/v1

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