Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review DOI Open Access
Caterina Micolonghi,

Federica Perrone,

Marco Fabiani

и другие.

Опубликована: Июль 25, 2024

Hereditary cardiomyopathies (CMPs), including Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Dilated (DCM), and Hypertrophic (HCM), represent a group of heart disorders that significantly contribute to cardiovascular morbidity mortality are often driven by genetic factors. Recent advances in Next-Generation Sequencing (NGS) technology have enabled the identification rare variants both well-established minor genes associated CMPs. Nowadays, set core is included diagnostic panels for ARVC, DCM, HCM. On other hand, despite their lesser-known status, may disease mechanisms influence prognosis. This review evaluates current evidence supporting involvement CMPs, considering potential pathogenicity clinical significance. A comprehensive analysis databases such as ClinGen, ClinVar, GeneReviews, along with recent literature guidelines, provides thorough overview landscape CMPs offers insights future research translation practice. Given increasing knowledge on these less-understood factors, studies essential clearly assess roles, ultimately leading improved precision therapeutic strategies hereditary

Язык: Английский

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review DOI Open Access
Caterina Micolonghi,

Federica Perrone,

Marco Fabiani

и другие.

Опубликована: Июль 25, 2024

Hereditary cardiomyopathies (CMPs), including Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC), Dilated (DCM), and Hypertrophic (HCM), represent a group of heart disorders that significantly contribute to cardiovascular morbidity mortality are often driven by genetic factors. Recent advances in Next-Generation Sequencing (NGS) technology have enabled the identification rare variants both well-established minor genes associated CMPs. Nowadays, set core is included diagnostic panels for ARVC, DCM, HCM. On other hand, despite their lesser-known status, may disease mechanisms influence prognosis. This review evaluates current evidence supporting involvement CMPs, considering potential pathogenicity clinical significance. A comprehensive analysis databases such as ClinGen, ClinVar, GeneReviews, along with recent literature guidelines, provides thorough overview landscape CMPs offers insights future research translation practice. Given increasing knowledge on these less-understood factors, studies essential clearly assess roles, ultimately leading improved precision therapeutic strategies hereditary

Язык: Английский

Процитировано

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