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Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management

Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (pro...

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Autores principales: Pezzoli, Laura, Pezzani, Lidia, Bonanomi, Ezio, Marrone, Chiara, Scatigno, Agnese, Cereda, Anna, Bedeschi, Maria Francesca, Selicorni, Angelo, Gasperini, Serena, Bini, Paolo, Maitz, Silvia, Maccioni, Carla, Pedron, Cristina, Colombo, Lorenzo, Marchetti, Daniela, Bellini, Matteo, Lincesso, Anna Rita, Perego, Loredana, Pingue, Monica, Della Malva, Nunzia, Mangili, Giovanna, Ferrazzi, Paolo, Iascone, Maria
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8780486/
https://www.ncbi.nlm.nih.gov/pubmed/35050212
http://dx.doi.org/10.3390/jcdd9010002
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author Pezzoli, Laura
Pezzani, Lidia
Bonanomi, Ezio
Marrone, Chiara
Scatigno, Agnese
Cereda, Anna
Bedeschi, Maria Francesca
Selicorni, Angelo
Gasperini, Serena
Bini, Paolo
Maitz, Silvia
Maccioni, Carla
Pedron, Cristina
Colombo, Lorenzo
Marchetti, Daniela
Bellini, Matteo
Lincesso, Anna Rita
Perego, Loredana
Pingue, Monica
Della Malva, Nunzia
Mangili, Giovanna
Ferrazzi, Paolo
Iascone, Maria
author_facet Pezzoli, Laura
Pezzani, Lidia
Bonanomi, Ezio
Marrone, Chiara
Scatigno, Agnese
Cereda, Anna
Bedeschi, Maria Francesca
Selicorni, Angelo
Gasperini, Serena
Bini, Paolo
Maitz, Silvia
Maccioni, Carla
Pedron, Cristina
Colombo, Lorenzo
Marchetti, Daniela
Bellini, Matteo
Lincesso, Anna Rita
Perego, Loredana
Pingue, Monica
Della Malva, Nunzia
Mangili, Giovanna
Ferrazzi, Paolo
Iascone, Maria
author_sort Pezzoli, Laura
collection PubMed
description Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (proband and parents)-WES to determine whether results contributed to clinical management in urgent and non-urgent settings. Twenty-nine out of 42 enrolled patients (69.0%) received a definitive molecular diagnosis. The mean time-to-diagnosis was 9.7 days in urgent settings, and 17 out of 24 patients (70.8%) obtained an etiological classification. In non-urgent settings, the mean time-to-diagnosis was 225 days, and 12 out of 18 patients (66.7%) had a molecular diagnosis. In 37 out of 42 patients (88.1%), the genetic findings contributed to clinical management, including heart transplantation, palliative care, or medical treatment, independent of the patient’s critical condition. All 29 patients and families with a definitive diagnosis received specific counseling about recurrence risk, and in seven (24.1%) cases, the result facilitated diagnosis in parents or siblings. In conclusion, genetic diagnosis significantly contributes to patients’ clinical and family management, and trio-WES should be performed promptly to be an essential part of care in infantile cardiomyopathy, maximizing its clinical utility.
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spelling pubmed-87804862022-01-22 Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management Pezzoli, Laura Pezzani, Lidia Bonanomi, Ezio Marrone, Chiara Scatigno, Agnese Cereda, Anna Bedeschi, Maria Francesca Selicorni, Angelo Gasperini, Serena Bini, Paolo Maitz, Silvia Maccioni, Carla Pedron, Cristina Colombo, Lorenzo Marchetti, Daniela Bellini, Matteo Lincesso, Anna Rita Perego, Loredana Pingue, Monica Della Malva, Nunzia Mangili, Giovanna Ferrazzi, Paolo Iascone, Maria J Cardiovasc Dev Dis Article Whole-exome sequencing (WES) is a powerful and comprehensive tool for the genetic diagnosis of rare diseases, but few reports describe its timely application and clinical impact on infantile cardiomyopathies (CM). We conducted a retrospective analysis of patients with infantile CMs who had trio (proband and parents)-WES to determine whether results contributed to clinical management in urgent and non-urgent settings. Twenty-nine out of 42 enrolled patients (69.0%) received a definitive molecular diagnosis. The mean time-to-diagnosis was 9.7 days in urgent settings, and 17 out of 24 patients (70.8%) obtained an etiological classification. In non-urgent settings, the mean time-to-diagnosis was 225 days, and 12 out of 18 patients (66.7%) had a molecular diagnosis. In 37 out of 42 patients (88.1%), the genetic findings contributed to clinical management, including heart transplantation, palliative care, or medical treatment, independent of the patient’s critical condition. All 29 patients and families with a definitive diagnosis received specific counseling about recurrence risk, and in seven (24.1%) cases, the result facilitated diagnosis in parents or siblings. In conclusion, genetic diagnosis significantly contributes to patients’ clinical and family management, and trio-WES should be performed promptly to be an essential part of care in infantile cardiomyopathy, maximizing its clinical utility. MDPI 2021-12-21 /pmc/articles/PMC8780486/ /pubmed/35050212 http://dx.doi.org/10.3390/jcdd9010002 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
Pezzoli, Laura
Pezzani, Lidia
Bonanomi, Ezio
Marrone, Chiara
Scatigno, Agnese
Cereda, Anna
Bedeschi, Maria Francesca
Selicorni, Angelo
Gasperini, Serena
Bini, Paolo
Maitz, Silvia
Maccioni, Carla
Pedron, Cristina
Colombo, Lorenzo
Marchetti, Daniela
Bellini, Matteo
Lincesso, Anna Rita
Perego, Loredana
Pingue, Monica
Della Malva, Nunzia
Mangili, Giovanna
Ferrazzi, Paolo
Iascone, Maria
Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management
title Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management
title_full Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management
title_fullStr Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management
title_full_unstemmed Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management
title_short Not Only Diagnostic Yield: Whole-Exome Sequencing in Infantile Cardiomyopathies Impacts on Clinical and Family Management
title_sort not only diagnostic yield: whole-exome sequencing in infantile cardiomyopathies impacts on clinical and family management
topic Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8780486/
https://www.ncbi.nlm.nih.gov/pubmed/35050212
http://dx.doi.org/10.3390/jcdd9010002
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