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Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment

Titin truncating variants (TTNtv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, it is unclear whether circulating cardiac biomarkers are helpful in detection and risk assessment. We sought to assess 1) early indicators of cardiotitinopathy including the seru...

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Autores principales: Chmielewski, Przemysław, Truszkowska, Grażyna, Kowalik, Ilona, Rydzanicz, Małgorzata, Michalak, Ewa, Sobieszczańska-Małek, Małgorzata, Franaszczyk, Maria, Stawiński, Piotr, Stępień-Wojno, Małgorzata, Oręziak, Artur, Lewandowski, Michał, Leszek, Przemysław, Bilińska, Maria, Zieliński, Tomasz, Płoski, Rafał, Bilińska, Zofia T.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8775078/
https://www.ncbi.nlm.nih.gov/pubmed/35054181
http://dx.doi.org/10.3390/diagnostics12010013
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author Chmielewski, Przemysław
Truszkowska, Grażyna
Kowalik, Ilona
Rydzanicz, Małgorzata
Michalak, Ewa
Sobieszczańska-Małek, Małgorzata
Franaszczyk, Maria
Stawiński, Piotr
Stępień-Wojno, Małgorzata
Oręziak, Artur
Lewandowski, Michał
Leszek, Przemysław
Bilińska, Maria
Zieliński, Tomasz
Płoski, Rafał
Bilińska, Zofia T.
author_facet Chmielewski, Przemysław
Truszkowska, Grażyna
Kowalik, Ilona
Rydzanicz, Małgorzata
Michalak, Ewa
Sobieszczańska-Małek, Małgorzata
Franaszczyk, Maria
Stawiński, Piotr
Stępień-Wojno, Małgorzata
Oręziak, Artur
Lewandowski, Michał
Leszek, Przemysław
Bilińska, Maria
Zieliński, Tomasz
Płoski, Rafał
Bilińska, Zofia T.
author_sort Chmielewski, Przemysław
collection PubMed
description Titin truncating variants (TTNtv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, it is unclear whether circulating cardiac biomarkers are helpful in detection and risk assessment. We sought to assess 1) early indicators of cardiotitinopathy including the serum biomarkers high-sensitivity cardiac troponin T (hs-cTnT) and N-terminal pro-B-type natriuretic peptide (NT-proBNP) in clinically stable patients, and 2) predictors of outcome among TTNtv carriers. Our single-center cohort consisted of 108 TTNtv carriers (including 70 DCM patients) from 43 families. Clinical, laboratory and follow-up data were analyzed. The earliest abnormality was left ventricular dysfunction, present in 8, 26 and 47% of patients in the second, third and fourth decade of life, respectively. It was followed by symptoms of heart failure, linked to NT-proBNP elevation and severe left ventricular systolic dysfunction, and later by arrhythmias. Hs-cTnT serum levels were increased in the late stage of the disease only. During the median follow-up of 5.2 years, both malignant ventricular arrhythmia (MVA) and end-stage heart failure (esHF) occurred in 12% of TTNtv carriers. In multivariable analysis, NT-proBNP level ≥650 pg/mL was the best predictor of both composite endpoints (MVA and esHF) and of MVA alone. In conclusion, echocardiographic abnormalities are the first detectable anomalies in the course of cardiotitinopathies. The assessment of circulating cardiac biomarkers is not useful in the detection of the disease onset but may be helpful in risk assessment.
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spelling pubmed-87750782022-01-21 Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment Chmielewski, Przemysław Truszkowska, Grażyna Kowalik, Ilona Rydzanicz, Małgorzata Michalak, Ewa Sobieszczańska-Małek, Małgorzata Franaszczyk, Maria Stawiński, Piotr Stępień-Wojno, Małgorzata Oręziak, Artur Lewandowski, Michał Leszek, Przemysław Bilińska, Maria Zieliński, Tomasz Płoski, Rafał Bilińska, Zofia T. Diagnostics (Basel) Article Titin truncating variants (TTNtv) are known as the leading cause of inherited dilated cardiomyopathy (DCM). Nevertheless, it is unclear whether circulating cardiac biomarkers are helpful in detection and risk assessment. We sought to assess 1) early indicators of cardiotitinopathy including the serum biomarkers high-sensitivity cardiac troponin T (hs-cTnT) and N-terminal pro-B-type natriuretic peptide (NT-proBNP) in clinically stable patients, and 2) predictors of outcome among TTNtv carriers. Our single-center cohort consisted of 108 TTNtv carriers (including 70 DCM patients) from 43 families. Clinical, laboratory and follow-up data were analyzed. The earliest abnormality was left ventricular dysfunction, present in 8, 26 and 47% of patients in the second, third and fourth decade of life, respectively. It was followed by symptoms of heart failure, linked to NT-proBNP elevation and severe left ventricular systolic dysfunction, and later by arrhythmias. Hs-cTnT serum levels were increased in the late stage of the disease only. During the median follow-up of 5.2 years, both malignant ventricular arrhythmia (MVA) and end-stage heart failure (esHF) occurred in 12% of TTNtv carriers. In multivariable analysis, NT-proBNP level ≥650 pg/mL was the best predictor of both composite endpoints (MVA and esHF) and of MVA alone. In conclusion, echocardiographic abnormalities are the first detectable anomalies in the course of cardiotitinopathies. The assessment of circulating cardiac biomarkers is not useful in the detection of the disease onset but may be helpful in risk assessment. MDPI 2021-12-22 /pmc/articles/PMC8775078/ /pubmed/35054181 http://dx.doi.org/10.3390/diagnostics12010013 Text en © 2021 by the authors. https://creativecommons.org/licenses/by/4.0/Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
spellingShingle Article
Chmielewski, Przemysław
Truszkowska, Grażyna
Kowalik, Ilona
Rydzanicz, Małgorzata
Michalak, Ewa
Sobieszczańska-Małek, Małgorzata
Franaszczyk, Maria
Stawiński, Piotr
Stępień-Wojno, Małgorzata
Oręziak, Artur
Lewandowski, Michał
Leszek, Przemysław
Bilińska, Maria
Zieliński, Tomasz
Płoski, Rafał
Bilińska, Zofia T.
Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment
title Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment
title_full Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment
title_fullStr Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment
title_full_unstemmed Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment
title_short Titin-Related Dilated Cardiomyopathy: The Clinical Trajectory and the Role of Circulating Biomarkers in the Clinical Assessment
title_sort titin-related dilated cardiomyopathy: the clinical trajectory and the role of circulating biomarkers in the clinical assessment
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8775078/
https://www.ncbi.nlm.nih.gov/pubmed/35054181
http://dx.doi.org/10.3390/diagnostics12010013
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