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TNNT2 (cardiac troponin T) has been suggested as a candidate gene for arrhythmogenic right ventricular cardiomyopathy (ARVC) based on a single consanguineous pedigree in which two siblings presented with severe ARVD and asymptomatic anterior polar cataract, mapping to 14q23–24 under a putative autosomal recessive model (PMID:9409860). In a larger follow-up study screening 137 ARVC probands for sarcomeric gene variants, TNNT2 mutations were not identified among the 6 probands (4%) carrying rare sarcomeric alterations, indicating lack of replication in this cohort (PMID:29709087). Overall, genetic evidence linking TNNT2 to ARVC remains limited, with no variant-level segregation or functional data supporting pathogenicity in this disease context.
Key take-home: current data do not support routine TNNT2 testing for ARVC in clinical practice.
Gene–Disease AssociationLimitedSingle family with two affected siblings under AR inheritance, no TNNT2 variant identified; no replication in cohort studies Genetic EvidenceLimitedMinimal case-level support: locus mapping only in one pedigree; no TNNT2 mutations in 137 ARVC probands Functional EvidenceNo evidenceNo functional assays directly linking TNNT2 variants to ARVC phenotypes |