Hidden familial cardiomyopathies in children: Role of genetic testing.

Cardiomyopathies Cardiotoxicity Cascade screening Children Genetic counselling Genetics

Journal

International journal of cardiology
ISSN: 1874-1754
Titre abrégé: Int J Cardiol
Pays: Netherlands
ID NLM: 8200291

Informations de publication

Date de publication:
01 Oct 2021
Historique:
received: 02 04 2021
revised: 03 08 2021
accepted: 06 08 2021
pubmed: 14 8 2021
medline: 21 10 2021
entrez: 13 8 2021
Statut: ppublish

Résumé

Pediatric cardiomyopathies harbour significant phenotypic and genetic heterogeneity. Genetic testing is essential for the initial evaluation and the ongoing care of child and family, although challenges remain regarding its appropriate clinical implementation in minors. We here discuss the key role of genetic diagnosis in the clinical management of two patients.

Identifiants

pubmed: 34384838
pii: S0167-5273(21)01224-9
doi: 10.1016/j.ijcard.2021.08.014
pii:
doi:

Types de publication

Journal Article

Langues

eng

Sous-ensembles de citation

IM

Pagination

55-58

Informations de copyright

Copyright © 2021 Elsevier B.V. All rights reserved.

Auteurs

F Girolami (F)

Cardiology Unit, Meyer Children's Hospital, Florence, Italy. Electronic address: francesca.girolami@meyer.it.

V Spinelli (V)

Cardiology Unit, Meyer Children's Hospital, Florence, Italy.

S Passantino (S)

Cardiology Unit, Meyer Children's Hospital, Florence, Italy.

E Bennati (E)

Cardiology Unit, Meyer Children's Hospital, Florence, Italy.

G B Calabri (GB)

Cardiology Unit, Meyer Children's Hospital, Florence, Italy.

I Olivotto (I)

Cardiomyopathy Unit, University of Florence, Florence, Italy.

S Favilli (S)

Cardiology Unit, Meyer Children's Hospital, Florence, Italy.

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Classifications MeSH