Pediatric cardiomyopathies are rare diseases, heterogeneous in clinical presentation, etiology and prognosis. Etiological diagnosis, where genetic analysis plays a key role, is of fundamental importance for defining diagnostic and therapeutic pathways. Furthermore, the identification of the genetic substrate represents a prerequisite for cascade screening in the proband’s family members and to allow conscious reproductive choices. To date, genetic testing is performed with the analysis of gene panels (targeted panels) or with the study of the entire exome (whole exome sequencing) using next generation sequencing (NGS) technology. The great genetic heterogeneity and the temporal variability of the clinical manifestations lead to unique problems for pediatric cardiomyopathies, distinct from those of the adult, such as the possible indications for access to the test, the type of test to be used (exome or panel of genes), the importance of analyzing parents, especially in cases with neonatal onset; moreover, the correct execution of bioinformatics analysis and the interpretation of NGS data play a crucial role in the impact of the results on clinical management.

Indicazioni all’esecuzione del test genetico nella diagnosi delle cardiomiopatie ad esordio pediatrico: percorso clinico della Società Italiana di Cardiologia Pediatrica / Francesca Girolami; Maria Iascone; Laura Pezzoli; Silvia Passantino; Giuseppe Limongelli; Emanuele Monda; Marta Rubino; Rachele Adorisio; Maristella Lombardi; Luca Ragni; Iacopo Olivotto; Silvia Favilli; a nome della Società Italiana di Cardiologia Pediatrica (SICP). - In: GIORNALE ITALIANO DI CARDIOLOGIA. - ISSN 1972-6481. - STAMPA. - 23:(2022), pp. 505-515. [10.1714/3831.38168]

Indicazioni all’esecuzione del test genetico nella diagnosi delle cardiomiopatie ad esordio pediatrico: percorso clinico della Società Italiana di Cardiologia Pediatrica

Francesca Girolami;Silvia Passantino;Iacopo Olivotto;Silvia Favilli;
2022

Abstract

Pediatric cardiomyopathies are rare diseases, heterogeneous in clinical presentation, etiology and prognosis. Etiological diagnosis, where genetic analysis plays a key role, is of fundamental importance for defining diagnostic and therapeutic pathways. Furthermore, the identification of the genetic substrate represents a prerequisite for cascade screening in the proband’s family members and to allow conscious reproductive choices. To date, genetic testing is performed with the analysis of gene panels (targeted panels) or with the study of the entire exome (whole exome sequencing) using next generation sequencing (NGS) technology. The great genetic heterogeneity and the temporal variability of the clinical manifestations lead to unique problems for pediatric cardiomyopathies, distinct from those of the adult, such as the possible indications for access to the test, the type of test to be used (exome or panel of genes), the importance of analyzing parents, especially in cases with neonatal onset; moreover, the correct execution of bioinformatics analysis and the interpretation of NGS data play a crucial role in the impact of the results on clinical management.
2022
23
505
515
Francesca Girolami; Maria Iascone; Laura Pezzoli; Silvia Passantino; Giuseppe Limongelli; Emanuele Monda; Marta Rubino; Rachele Adorisio; Maristella Lombardi; Luca Ragni; Iacopo Olivotto; Silvia Favilli; a nome della Società Italiana di Cardiologia Pediatrica (SICP)
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Utilizza questo identificatore per citare o creare un link a questa risorsa: https://hdl.handle.net/2158/1290884
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