Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation
In thelast few decades, the roles of cardio-oncology and cardiovascular geneticsgained more and more attention in research and daily clinical practice, shaping a new clinical approach and management of patients affected by cancer and cardiovascular disease. Genetic characterization of patients under...
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-02-01
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| Series: | Cardiogenetics |
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| Online Access: | https://www.mdpi.com/2035-8148/12/1/7 |
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| author | Angela Maggio Sandra Mastroianno Giuseppe Di Stolfo Stefano Castellana Pietro Palumbo Maria Pia Leone Anita Spirito Domenico Rosario Potenza Saverio Ladogana Marco Castori Massimo Carella Massimo Villella Mauro Pellegrino Salvatori |
| author_facet | Angela Maggio Sandra Mastroianno Giuseppe Di Stolfo Stefano Castellana Pietro Palumbo Maria Pia Leone Anita Spirito Domenico Rosario Potenza Saverio Ladogana Marco Castori Massimo Carella Massimo Villella Mauro Pellegrino Salvatori |
| author_sort | Angela Maggio |
| collection | DOAJ |
| description | In thelast few decades, the roles of cardio-oncology and cardiovascular geneticsgained more and more attention in research and daily clinical practice, shaping a new clinical approach and management of patients affected by cancer and cardiovascular disease. Genetic characterization of patients undergoing cancer treatment can support a better cardiovascular risk stratification beyond the typical risk factors, suchas contractile function and QT interval duration, uncovering a possible patient’s concealed predisposition to heart failure, life threatening arrhythmias and sudden death. Specifically, an integrated cardiogenetic approach in daily oncological clinical practice can ensure the best patient-centered healthcare model, suggesting, also the adequate cardiac monitoring timing and alternative cancer treatments, reducing drug-related complications. We report the case of a 14-month-old girl affected by neuroblastoma, treated by cisplatin, complicated by cardiac arrest. We described the genetic characterization of a Ryanodine receptor 2 (<i>RYR2</i>) gene mutation and subsequent pharmacogenomic approach to better shape the cancer treatment. |
| first_indexed | 2024-03-09T20:02:03Z |
| format | Article |
| id | doaj.art-8ecb0c9a77b748b0834bf478c6d69dd4 |
| institution | Directory Open Access Journal |
| issn | 2035-8253 2035-8148 |
| language | English |
| last_indexed | 2024-03-09T20:02:03Z |
| publishDate | 2022-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Cardiogenetics |
| spelling | doaj.art-8ecb0c9a77b748b0834bf478c6d69dd42023-11-24T00:41:37ZengMDPI AGCardiogenetics2035-82532035-81482022-02-01121808810.3390/cardiogenetics12010007Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene MutationAngela Maggio0Sandra Mastroianno1Giuseppe Di Stolfo2Stefano Castellana3Pietro Palumbo4Maria Pia Leone5Anita Spirito6Domenico Rosario Potenza7Saverio Ladogana8Marco Castori9Massimo Carella10Massimo Villella11Mauro Pellegrino Salvatori12Pediatric Oncoematology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyCardiology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyCardiology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyBioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyGenetic Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyGenetic Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyPediatric Oncoematology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyCardiology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyPediatric Oncoematology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyGenetic Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyBioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyCardiology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyCardiology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, ItalyIn thelast few decades, the roles of cardio-oncology and cardiovascular geneticsgained more and more attention in research and daily clinical practice, shaping a new clinical approach and management of patients affected by cancer and cardiovascular disease. Genetic characterization of patients undergoing cancer treatment can support a better cardiovascular risk stratification beyond the typical risk factors, suchas contractile function and QT interval duration, uncovering a possible patient’s concealed predisposition to heart failure, life threatening arrhythmias and sudden death. Specifically, an integrated cardiogenetic approach in daily oncological clinical practice can ensure the best patient-centered healthcare model, suggesting, also the adequate cardiac monitoring timing and alternative cancer treatments, reducing drug-related complications. We report the case of a 14-month-old girl affected by neuroblastoma, treated by cisplatin, complicated by cardiac arrest. We described the genetic characterization of a Ryanodine receptor 2 (<i>RYR2</i>) gene mutation and subsequent pharmacogenomic approach to better shape the cancer treatment.https://www.mdpi.com/2035-8148/12/1/7cardiac arrestcisplatinryanodine receptor 2 gene mutationpharmacogenomicsneuroblastoma |
| spellingShingle | Angela Maggio Sandra Mastroianno Giuseppe Di Stolfo Stefano Castellana Pietro Palumbo Maria Pia Leone Anita Spirito Domenico Rosario Potenza Saverio Ladogana Marco Castori Massimo Carella Massimo Villella Mauro Pellegrino Salvatori Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation Cardiogenetics cardiac arrest cisplatin ryanodine receptor 2 gene mutation pharmacogenomics neuroblastoma |
| title | Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation |
| title_full | Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation |
| title_fullStr | Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation |
| title_full_unstemmed | Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation |
| title_short | Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation |
| title_sort | pharmacogenomics of pediatric cardiac arrest cisplatin treatment worsened by a ryanodine receptor 2 gene mutation |
| topic | cardiac arrest cisplatin ryanodine receptor 2 gene mutation pharmacogenomics neuroblastoma |
| url | https://www.mdpi.com/2035-8148/12/1/7 |
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