The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.

doi:10.1111/cge.14569

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The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases.

Clinical genetics - 1 Oct 2024

Mio Catia, Zucco Jessica, Fabbro Dora, Bregant Elisa, Baldan Federica, Allegri Lorenzo, D'Elia Angela Valentina, Collini Valentino, Imazio Massimo, Damante Giuseppe, Faletra Flavio

Abstract excerpt

In the last decade, an incredible improvement has been made in elucidating the genetic bases of cardiomyopathies. Here we report the impact of either the European Society of Cardiology (ESC) guidelines or the use of whole exome sequencing (WES) in terms of a number of variants of uncertain significance (VUS) and missed diagnoses in a series of 260 patients affected by inherited cardiac disorders. Samples were...

Topics

Humans
Genetic Testing
Exome Sequencing
Female
Male
Adult
Heart Diseases
Middle Aged
Cardiology
Europe
Genetic Predisposition to Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Adolescent

Aged

Young Adult

Child

Practice Guidelines as Topic

Exome

Child, Preschool

Source

Open in PubMed

Identifiers

PMID: 38837338
DOI: 10.1111/cge.14569

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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