The p.Asn271Ile Variant in the TNNT2 Gene Is Associated With Low-Risk Late-Onset Hypertrophic Cardiomyopathy.

doi:10.1016/j.jchf.2025.01.024

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Article

The p.Asn271Ile Variant in the TNNT2 Gene Is Associated With Low-Risk Late-Onset Hypertrophic Cardiomyopathy.

JACC. Heart failure - 1 Dec 2025

Larrañaga-Moreira José M, Ochoa Juan P, Peteiro-Debén Rosalía, Martín-Álvarez Esteban, Ripoll-Vera Tomás, Álvarez-Rubio Jorge, Peña-Peña María L, Llamas-Gómez Helena, Fernández Adrián, Gallego-Delgado María, Rodríguez-Serrano Ana I, Díez-López Carles, Elliott Perry M, Palomino-Doza Julián, Lorca Rebeca, Limeres Javier, Azevedo Olga, Zorio Esther, Martín-Dorado Ernesto, Méndez-Fernández Irene, Franco-Gutiérrez Raúl, de Frutos Fernando, Escudero Aida, Ruiz-Guerrero Luis, Rodríguez-Vilela Alejandro, Mazzanti Andrea, McKenna William J, Barriales-Villa Roberto

Abstract excerpt

BACKGROUND: Variants in the cardiac troponin T gene (TNNT2) are a cause of hypertrophic cardiomyopathy (HCM) where mild TNNT2 structural phenotypes may be associated with sudden cardiac death. OBJECTIVES: This study aims to demonstrate a founder effect in A Coruña (Spain) and characterize the phenotype of the TNNT2 p.Asn271Ile variant in comparison with codon 92 variants, a hotspot previously associated with high...

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Topics

Humans
Male
Female

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Middle Aged

Troponin T

Cardiomyopathy, Hypertrophic

Retrospective Studies

Aged

Adult

Phenotype

Spain

Death, Sudden, Cardiac

Haplotypes

Age of Onset

Penetrance

Source

Open in PubMed

Identifiers

PMID: 40310325
DOI: 10.1016/j.jchf.2025.01.024

Genes

TNNT2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 23 Oct 2026.

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