Next-Generation Sequencing Gene Panels in Inheritable Cardiomyopathies and Channelopathies: Prevalence of Pathogenic Variants and Variants of Unknown Significance in Uncommon Genes

Autor: Cristina Mazzaccara, Raffaella Lombardi, Bruno Mirra, Ferdinando Barretta, Maria Valeria Esposito, Fabiana Uomo, Martina Caiazza, Emanuele Monda, Maria Angela Losi, Giuseppe Limongelli, Valeria D’Argenio, Giulia Frisso

Publikováno v: Biomolecules, Vol 12, Iss 10, p 1417 (2022)

The diffusion of next-generation sequencing (NGS)-based approaches allows for the identification of pathogenic mutations of cardiomyopathies and channelopathies in more than 200 different genes. Since genes considered uncommon for a clinical phenotyp

Externí odkaz: https://doaj.org/article/c9575d525a64435f9e038ccee7a98c5b

Molecular Epidemiology of Mitochondrial Cardiomyopathy: A Search Among Mitochondrial and Nuclear Genes

Autor: Cristina Mazzaccara, Bruno Mirra, Ferdinando Barretta, Martina Caiazza, Barbara Lombardo, Olga Scudiero, Nadia Tinto, Giuseppe Limongelli, Giulia Frisso

Publikováno v: International Journal of Molecular Sciences, Vol 22, Iss 11, p 5742 (2021)

Mitochondrial Cardiomyopathy (MCM) is a common manifestation of multi-organ Mitochondrial Diseases (MDs), occasionally present in non-syndromic cases. Diagnosis of MCM is complex because of wide clinical and genetic heterogeneity and requires medical

Externí odkaz: https://doaj.org/article/5b45468fb0174fd884a2e9165b614925

The Hidden Fragility in the Heart of the Athletes: A Review of Genetic Biomarkers

Autor: Barbara Lombardo, Cristina Mazzaccara, Martina Caiazza, Ferdinando Barretta, Bruno Mirra, Olga Scudiero, Emanuele Monda, Giulia Frisso, Nadia Tinto

Publikováno v: International Journal of Molecular Sciences, Vol 21, Iss 6682, p 6682 (2020)
International Journal of Molecular Sciences

Sudden cardiac death (SCD) is a devastating event which can also affect people in apparent good health, such as young athletes. It is known that intense and continuous exercise along with a genetic background that predisposes a person to the risk of

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::16a33edd83554bff430ba6fbfe7cfc20
https://www.mdpi.com/1422-0067/21/18/6682

Sudden Cardiac Death in Young Athletes: Literature Review of Molecular Basis

Autor: Olga Scudiero, Ferdinando Barretta, Bruno Mirra, Giulia Frisso, Barbara Lombardo, Cristina Mazzaccara

Publikováno v: Cardiogenetics
Volume 10
Issue 1
Cardiogenetics, Vol 10, Iss 1 (2020)

Intense athletic training and competition can rarely result in sudden cardiac death (SCD). Despite the introduction of pre-participation cardiovascular screening, especially among young competitive athletes, sport-related SCD remains a debated issue

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::251dd8b5caa590746be43cf714054db0
https://doi.org/10.4081/cardiogenetics.2020.8860