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Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction

Myocardial dysfunction is a known risk factor for morbidity and mortality in hypoplastic left heart syndrome (HLHS). Variants in some transcription factor and contractility genes, which are known to cause cardiomyopathy, have previously been associated with impaired right ventricular function in som...

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Autores principales: Helle, Emmi, Pihkala, Jaana, Turunen, Riitta, Ruotsalainen, Hanna, Tuupanen, Sari, Koskenvuo, Juha, Ojala, Tiina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7661485/
https://www.ncbi.nlm.nih.gov/pubmed/33194928
http://dx.doi.org/10.3389/fped.2020.596840
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author Helle, Emmi
Pihkala, Jaana
Turunen, Riitta
Ruotsalainen, Hanna
Tuupanen, Sari
Koskenvuo, Juha
Ojala, Tiina
author_facet Helle, Emmi
Pihkala, Jaana
Turunen, Riitta
Ruotsalainen, Hanna
Tuupanen, Sari
Koskenvuo, Juha
Ojala, Tiina
author_sort Helle, Emmi
collection PubMed
description Myocardial dysfunction is a known risk factor for morbidity and mortality in hypoplastic left heart syndrome (HLHS). Variants in some transcription factor and contractility genes, which are known to cause cardiomyopathy, have previously been associated with impaired right ventricular function in some HLHS patients. The care of HLHS patients is resource demanding. Identifying genetic variants associated with myocardial dysfunction would be helpful in tailoring the follow-up and therapeutic strategies. We tested whether a commercial cardiomyopathy gene panel could serve as a diagnostic tool in a Finnish cohort of HLHS patients with impaired right ventricular function to identify potentially pathogenic variants associated with poor prognosis. None of the patients had pathogenic or likely pathogenic variants in the studied cardiomyopathy-associated genes. Thus, our approach of performing a cardiomyopathy gene panel to identify pathogenic variants as directly causal or as modifiers for worse outcomes in hypoplastic left heart syndrome is not useful in clinical practice at the moment.
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spelling pubmed-76614852020-11-13 Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction Helle, Emmi Pihkala, Jaana Turunen, Riitta Ruotsalainen, Hanna Tuupanen, Sari Koskenvuo, Juha Ojala, Tiina Front Pediatr Pediatrics Myocardial dysfunction is a known risk factor for morbidity and mortality in hypoplastic left heart syndrome (HLHS). Variants in some transcription factor and contractility genes, which are known to cause cardiomyopathy, have previously been associated with impaired right ventricular function in some HLHS patients. The care of HLHS patients is resource demanding. Identifying genetic variants associated with myocardial dysfunction would be helpful in tailoring the follow-up and therapeutic strategies. We tested whether a commercial cardiomyopathy gene panel could serve as a diagnostic tool in a Finnish cohort of HLHS patients with impaired right ventricular function to identify potentially pathogenic variants associated with poor prognosis. None of the patients had pathogenic or likely pathogenic variants in the studied cardiomyopathy-associated genes. Thus, our approach of performing a cardiomyopathy gene panel to identify pathogenic variants as directly causal or as modifiers for worse outcomes in hypoplastic left heart syndrome is not useful in clinical practice at the moment. Frontiers Media S.A. 2020-10-30 /pmc/articles/PMC7661485/ /pubmed/33194928 http://dx.doi.org/10.3389/fped.2020.596840 Text en Copyright © 2020 Helle, Pihkala, Turunen, Ruotsalainen, Tuupanen, Koskenvuo and Ojala. http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Pediatrics
Helle, Emmi
Pihkala, Jaana
Turunen, Riitta
Ruotsalainen, Hanna
Tuupanen, Sari
Koskenvuo, Juha
Ojala, Tiina
Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction
title Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction
title_full Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction
title_fullStr Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction
title_full_unstemmed Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction
title_short Rare Variants in Genes Associated With Cardiomyopathy Are Not Common in Hypoplastic Left Heart Syndrome Patients With Myocardial Dysfunction
title_sort rare variants in genes associated with cardiomyopathy are not common in hypoplastic left heart syndrome patients with myocardial dysfunction
topic Pediatrics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7661485/
https://www.ncbi.nlm.nih.gov/pubmed/33194928
http://dx.doi.org/10.3389/fped.2020.596840
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