Next Article in Journal
Acknowledgment to Reviewers of Cardiogenetics in 2021
Next Article in Special Issue
Genetic Diagnostics Contribute to the Risk Stratification for Major Arrhythmic Events in Pediatric Patients with Long QT Syndrome Type 1–3
Previous Article in Journal / Special Issue
Genetics of Heritable Thoracic Aortic Disease
Case Report

Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation

1
Pediatric Oncoematology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy
2
Cardiology Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy
3
Bioinformatics Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy
4
Istituto Mendel, 00161 Roma, Italy
5
Genetic Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Academic Editor: Generoso Andria
Cardiogenetics 2022, 12(1), 80-88; https://doi.org/10.3390/cardiogenetics12010007
Received: 10 December 2021 / Revised: 21 January 2022 / Accepted: 24 January 2022 / Published: 7 February 2022
(This article belongs to the Special Issue Cardiogenetics: Feature Papers 2021)
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 (RYR2) gene mutation and subsequent pharmacogenomic approach to better shape the cancer treatment. View Full-Text
Keywords: cardiac arrest; cisplatin; ryanodine receptor 2 gene mutation; pharmacogenomics; neuroblastoma cardiac arrest; cisplatin; ryanodine receptor 2 gene mutation; pharmacogenomics; neuroblastoma
Show Figures

Figure 1

MDPI and ACS Style

Maggio, A.; Mastroianno, S.; Di Stolfo, G.; Castellana, S.; Palumbo, P.; Leone, M.P.; Spirito, A.; Potenza, D.R.; Ladogana, S.; Castori, M.; Carella, M.; Villella, M.; Salvatori, M.P. Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation. Cardiogenetics 2022, 12, 80-88. https://doi.org/10.3390/cardiogenetics12010007

AMA Style

Maggio A, Mastroianno S, Di Stolfo G, Castellana S, Palumbo P, Leone MP, Spirito A, Potenza DR, Ladogana S, Castori M, Carella M, Villella M, Salvatori MP. Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation. Cardiogenetics. 2022; 12(1):80-88. https://doi.org/10.3390/cardiogenetics12010007

Chicago/Turabian Style

Maggio, Angela, Sandra Mastroianno, Giuseppe Di Stolfo, Stefano Castellana, Pietro Palumbo, Maria P. Leone, Anita Spirito, Domenico R. Potenza, Saverio Ladogana, Marco Castori, Massimo Carella, Massimo Villella, and Mauro P. Salvatori. 2022. "Pharmacogenomics of Pediatric Cardiac Arrest: Cisplatin Treatment Worsened by a Ryanodine Receptor 2 Gene Mutation" Cardiogenetics 12, no. 1: 80-88. https://doi.org/10.3390/cardiogenetics12010007

Find Other Styles

Article Access Map by Country/Region

1
Back to TopTop