Version 1
: Received: 24 July 2024 / Approved: 25 July 2024 / Online: 25 July 2024 (09:41:46 CEST)
How to cite:
Micolonghi, C.; Perrone, F.; Fabiani, M.; Caroselli, S.; Savio, C.; Pizzuti, A.; Germani, A.; Visco, V.; Petrucci, S.; Rubattu, S.; Piane, M. Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review. Preprints2024, 2024072000. https://doi.org/10.20944/preprints202407.2000.v1
Micolonghi, C.; Perrone, F.; Fabiani, M.; Caroselli, S.; Savio, C.; Pizzuti, A.; Germani, A.; Visco, V.; Petrucci, S.; Rubattu, S.; Piane, M. Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review. Preprints 2024, 2024072000. https://doi.org/10.20944/preprints202407.2000.v1
Micolonghi, C.; Perrone, F.; Fabiani, M.; Caroselli, S.; Savio, C.; Pizzuti, A.; Germani, A.; Visco, V.; Petrucci, S.; Rubattu, S.; Piane, M. Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review. Preprints2024, 2024072000. https://doi.org/10.20944/preprints202407.2000.v1
APA Style
Micolonghi, C., Perrone, F., Fabiani, M., Caroselli, S., Savio, C., Pizzuti, A., Germani, A., Visco, V., Petrucci, S., Rubattu, S., & Piane, M. (2024). Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review. Preprints. https://doi.org/10.20944/preprints202407.2000.v1
Chicago/Turabian Style
Micolonghi, C., Speranza Rubattu and Maria Piane. 2024 "Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review" Preprints. https://doi.org/10.20944/preprints202407.2000.v1
Abstract
Hereditary cardiomyopathies (CMPs), including Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), 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 to CMPs. Nowadays, a set of core genes is included in diagnostic panels for ARVC, DCM, 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 GeneReviews, along with recent literature and diagnostic guidelines, provides a thorough overview of the genetic landscape of minor genes in CMPs and offers insights for future research and translation to clinical practice. Given the increasing knowledge on these less-understood genetic factors, future studies are essential to clearly assess their roles, ultimately leading to improved diagnostic precision and therapeutic strategies in hereditary CMPs.
Keywords
cardiomyopathies; genetics; ARVC; DCM; HCM
Subject
Medicine and Pharmacology, Cardiac and Cardiovascular Systems
Copyright:
This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
