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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...
Autores principales: | , , , , , , , , , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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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. |
format | Online Article Text |
id | pubmed-8780486 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2021 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
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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