Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.


Journal

International journal of molecular sciences
ISSN: 1422-0067
Titre abrégé: Int J Mol Sci
Pays: Switzerland
ID NLM: 101092791

Informations de publication

Date de publication:
10 Sep 2024
Historique:
received: 22 07 2024
revised: 04 09 2024
accepted: 06 09 2024
medline: 29 9 2024
pubmed: 28 9 2024
entrez: 28 9 2024
Statut: epublish

Résumé

Hereditary cardiomyopathies (CMPs), including arrhythmogenic cardiomyopathy (ACM), dilated cardiomyopathy (DCM), and hypertrophic cardiomyopathy (HCM), represent a group of heart disorders that significantly contribute to cardiovascular morbidity and mortality and are often driven by genetic factors. Recent advances in next-generation sequencing (NGS) technology have enabled the identification of rare variants in both well-established and minor genes associated with CMPs. Nowadays, a set of core genes is included in diagnostic panels for ACM, DCM, and HCM. On the other hand, despite their lesser-known status, variants in the minor genes may contribute to disease mechanisms and influence prognosis. This review evaluates the current evidence supporting the involvement of the minor genes in CMPs, considering their potential pathogenicity and clinical significance. A comprehensive analysis of databases, such as ClinGen, ClinVar, and

Identifiants

pubmed: 39337275
pii: ijms25189787
doi: 10.3390/ijms25189787
pii:
doi:

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Auteurs

Caterina Micolonghi (C)

Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.

Federica Perrone (F)

Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
Department of Neuroscience, Istituto Superiore di Sanità, 00161 Rome, Italy.

Marco Fabiani (M)

Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
ALTAMEDICA, Human Genetics, 00198 Rome, Italy.

Silvia Caroselli (S)

Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
Juno Genetics, Reproductive Genetics, 00188 Rome, Italy.

Camilla Savio (C)

S. Andrea University Hospital, 00189 Rome, Italy.

Antonio Pizzuti (A)

Department of Experimental Medicine, Faculty of Medicine and Dentistry, Sapienza University of Rome, 00161 Rome, Italy.
Medical Genetics Unit, IRCCS Mendel Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.

Aldo Germani (A)

Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.

Vincenzo Visco (V)

S. Andrea University Hospital, 00189 Rome, Italy.
Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.

Simona Petrucci (S)

S. Andrea University Hospital, 00189 Rome, Italy.
Medical Genetics Unit, IRCCS Mendel Casa Sollievo della Sofferenza, 71013 San Giovanni Rotondo, Italy.
Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.

Speranza Rubattu (S)

S. Andrea University Hospital, 00189 Rome, Italy.
Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.
IRCCS Neuromed, 86077 Pozzilli, Italy.

Maria Piane (M)

S. Andrea University Hospital, 00189 Rome, Italy.
Department of Clinical and Molecular Medicine, Faculty of Medicine and Psychology, Sapienza University of Rome, 00189 Rome, Italy.

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Classifications MeSH