Troponin T Assessment Allows for Identification of Mutation Carriers Among Young Relatives of Patients with -Related Dilated Cardiomyopathy

Overview

Journal J Clin Med

Specialty General Medicine

Date 2024 Jun 19

PMID 38892874

Authors

Przemyslaw Chmielewski

Ilona Kowalik

Grazyna Truszkowska

Ewa Michalak

Joanna Poninska

Agnieszka Sadowska

Katarzyna Kalin

Krzysztof Jaworski

Ilona Minota

Jolanta Krzyszton-Russjan

Tomasz Zielinski

Rafal Ploski

Zofia Teresa Bilinska

Affiliations

Soon will be listed here.

Abstract

-related dilated cardiomyopathy (-DCM) caused by mutations in the lamin A/C gene () is one of the most common forms of hereditary DCM. Due to the high risk of mutation transmission to offspring and the high incidence of ventricular arrhythmia and sudden death even before the onset of heart failure symptoms, it is very important to identify -mutation carriers. However, many relatives of -DCM patients do not report to specialized centers for clinical or genetic screening. Therefore, an easily available tool to identify at-risk subjects is needed. We compared two cohorts of young, asymptomatic relatives of DCM patients who reported for screening: 29 mutation carriers and 43 individuals from the control group. Receiver operating characteristic (ROC) curves for potential indicators of mutation carriership status were analyzed. PR interval, N-terminal pro-B-type natriuretic peptide (NT-proBNP), and high-sensitivity cardiac troponin T (hscTnT) serum levels were higher in the mutation carrier cohort. Neither group differed significantly with regard to creatinine concentration or left ventricular ejection fraction. The best mutation carriership discriminator was hscTnT level with an optimal cut-off value at 5.5 ng/L, for which sensitivity and specificity were 86% and 93%, respectively. The median hscTnT level was 11.0 ng/L in mutation carriers vs. <3.0 ng/L in the control group, < 0.001. Wherever access to genetic testing is limited, mutation carriership status can be assessed reliably using the hscTnT assay. Among young symptomless relatives of -DCM patients, a hscTnT level >5.5 ng/L strongly suggests mutation carriers.

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