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Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation

Coarctation of the aorta is a leading cause of morbidity and mortality among adults with congenital heart disease (ACHD). Lifelong surveillance is mandatory to screen for possible long-term cardiovascular events. Left ventricular systolic dysfunction has been reported in association with recoarctati...

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Autores principales: Caiazza, Martina, Lioncino, Michele, Monda, Emanuele, Di Fraia, Francesco, Verrillo, Federica, Pacileo, Roberta, Amodio, Federica, Rubino, Marta, Cirillo, Annapaola, Fusco, Adelaide, Romeo, Emanuele, Scatteia, Alessandra, Dellegrottaglie, Santo, Calabrò, Paolo, Sarubbi, Berardo, Baban, Anwar, Frisso, Giulia, Russo, Maria Giovanna, Limongelli, Giuseppe
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8148585/
https://www.ncbi.nlm.nih.gov/pubmed/34066613
http://dx.doi.org/10.3390/biom11050696
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author Caiazza, Martina
Lioncino, Michele
Monda, Emanuele
Di Fraia, Francesco
Verrillo, Federica
Pacileo, Roberta
Amodio, Federica
Rubino, Marta
Cirillo, Annapaola
Fusco, Adelaide
Romeo, Emanuele
Scatteia, Alessandra
Dellegrottaglie, Santo
Calabrò, Paolo
Sarubbi, Berardo
Baban, Anwar
Frisso, Giulia
Russo, Maria Giovanna
Limongelli, Giuseppe
author_facet Caiazza, Martina
Lioncino, Michele
Monda, Emanuele
Di Fraia, Francesco
Verrillo, Federica
Pacileo, Roberta
Amodio, Federica
Rubino, Marta
Cirillo, Annapaola
Fusco, Adelaide
Romeo, Emanuele
Scatteia, Alessandra
Dellegrottaglie, Santo
Calabrò, Paolo
Sarubbi, Berardo
Baban, Anwar
Frisso, Giulia
Russo, Maria Giovanna
Limongelli, Giuseppe
author_sort Caiazza, Martina
collection PubMed
description Coarctation of the aorta is a leading cause of morbidity and mortality among adults with congenital heart disease (ACHD). Lifelong surveillance is mandatory to screen for possible long-term cardiovascular events. Left ventricular systolic dysfunction has been reported in association with recoarctation, and association with dilated cardiomyopathy (DCMP) is very rare. Herein, we report the case of a 19-year-old boy with coarctation of the aorta who complained of mild exertional dyspnea. Cardiac magnetic resonance revealed a moderately dilated, hypokinetic left ventricle (LV), with mildly reduced EF (45%), and residual isthmic coarctation was excluded. Genetic tests revealed a heterozygous missense variant in TNNT2 (NM_001001430.2): c.518G>A (p. Arg173Gln). This case highlights the role of careful history taking: a family history of cardiomyopathy should not be overlooked even when the clinical setting seems to suggest a predisposition to hemodynamic factors for LVSD.
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spelling pubmed-81485852021-05-26 Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation Caiazza, Martina Lioncino, Michele Monda, Emanuele Di Fraia, Francesco Verrillo, Federica Pacileo, Roberta Amodio, Federica Rubino, Marta Cirillo, Annapaola Fusco, Adelaide Romeo, Emanuele Scatteia, Alessandra Dellegrottaglie, Santo Calabrò, Paolo Sarubbi, Berardo Baban, Anwar Frisso, Giulia Russo, Maria Giovanna Limongelli, Giuseppe Biomolecules Case Report Coarctation of the aorta is a leading cause of morbidity and mortality among adults with congenital heart disease (ACHD). Lifelong surveillance is mandatory to screen for possible long-term cardiovascular events. Left ventricular systolic dysfunction has been reported in association with recoarctation, and association with dilated cardiomyopathy (DCMP) is very rare. Herein, we report the case of a 19-year-old boy with coarctation of the aorta who complained of mild exertional dyspnea. Cardiac magnetic resonance revealed a moderately dilated, hypokinetic left ventricle (LV), with mildly reduced EF (45%), and residual isthmic coarctation was excluded. Genetic tests revealed a heterozygous missense variant in TNNT2 (NM_001001430.2): c.518G>A (p. Arg173Gln). This case highlights the role of careful history taking: a family history of cardiomyopathy should not be overlooked even when the clinical setting seems to suggest a predisposition to hemodynamic factors for LVSD. MDPI 2021-05-06 /pmc/articles/PMC8148585/ /pubmed/34066613 http://dx.doi.org/10.3390/biom11050696 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 Case Report
Caiazza, Martina
Lioncino, Michele
Monda, Emanuele
Di Fraia, Francesco
Verrillo, Federica
Pacileo, Roberta
Amodio, Federica
Rubino, Marta
Cirillo, Annapaola
Fusco, Adelaide
Romeo, Emanuele
Scatteia, Alessandra
Dellegrottaglie, Santo
Calabrò, Paolo
Sarubbi, Berardo
Baban, Anwar
Frisso, Giulia
Russo, Maria Giovanna
Limongelli, Giuseppe
Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation
title Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation
title_full Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation
title_fullStr Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation
title_full_unstemmed Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation
title_short Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation
title_sort troponin t mutation as a cause of left ventricular systolic dysfunction in a young patient with previous surgical correction of aortic coarctation
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8148585/
https://www.ncbi.nlm.nih.gov/pubmed/34066613
http://dx.doi.org/10.3390/biom11050696
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