Molecular autopsy: Twenty years of post-mortem diagnosis in sudden cardiac death

E Martínez-Barrios, S Grassi, M Brión, R Toro… - Frontiers in …, 2023 - frontiersin.org
In the forensic medicine field, molecular autopsy is the post-mortem genetic analysis
performed to attempt to unravel the cause of decease in cases remaining unexplained after …

Inherited arrhythmias in the pediatric population: an updated overview

MV Mariani, N Pierucci, F Fanisio, D Laviola, G Silvetti… - Medicina, 2024 - mdpi.com
Pediatric cardiomyopathies (CMs) and electrical diseases constitute a heterogeneous
spectrum of disorders distinguished by structural and electrical abnormalities in the heart …

Next-generation sequencing gene panels in Inheritable cardiomyopathies and channelopathies: prevalence of pathogenic variants and variants of unknown …

C Mazzaccara, R Lombardi, B Mirra, F Barretta… - Biomolecules, 2022 - mdpi.com
The diffusion of next-generation sequencing (NGS)-based approaches allows for the
identification of pathogenic mutations of cardiomyopathies and channelopathies in more …

Reevaluation of ambiguous genetic variants in sudden unexplained deaths of a young cohort

E Martinez-Barrios, G Sarquella-Brugada… - International journal of …, 2023 - Springer
Sudden death cases in the young population remain without a conclusive cause of decease
in almost 40% of cases. In these situations, cardiac arrhythmia of genetic origin is suspected …

Assessment of Sudden Cardiac Death Risk in Pediatric Primary Electrical Disorders: A Comprehensive Overview

A Pupaza, E Cinteza, CM Vasile, A Nicolescu… - Diagnostics, 2023 - mdpi.com
Sudden cardiac death (SCD) in children is a devastating event, often linked to primary
electrical diseases (PED) of the heart. PEDs, often referred to as channelopathies, are a …

Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Autopsy

C Salzillo, V Sansone, F Napolitano - Current Issues in Molecular Biology, 2024 - mdpi.com
Sudden cardiac death (SCD) is defined as unexpected death due to a cardiac cause that
occurs rapidly. Despite the identification of prevention strategies, SCD remains a serious …

[HTML][HTML] Precision medicine in catecholaminergic polymorphic ventricular tachycardia: Recent advances toward personalized care

A Siu, E Tandanu, B Ma, EE Osas, H Liu… - Annals of Pediatric …, 2023 - journals.lww.com
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited cardiac
ion channelopathy where the initial disease presentation is during childhood or adolescent …

Case Report: A novel KNCH2 variant-induced fetal heart block and the advantages of fetal genomic sequencing in prenatal long-term dexamethasone exposure

H Huang, S Jing, S Wu, L Wei, Q Zhang, Y Hua… - Frontiers in …, 2022 - frontiersin.org
Background: Fetal bradycardia is a common but severe condition. In addition to autoimmune-
mediated fetal heart block, several types of channelopathies induce high-degree …

A rare case with fetal autoimmune heart block and KNCH2 variant–induced long QT syndrome: a controversial opinion on prenatal management strategy

L Wei, J Wu, P Xie, X Liu, Y Hua, K Zhou… - BMC Cardiovascular …, 2023 - Springer
Background Among all fetal heart block patients,> 50% cases are associated with maternal
autoimmune diseases, and such patients should receive treatment. However, nearly half of …

[HTML][HTML] Short QT Syndrome: Update on Genetic Basis

E Martínez-Barrios, J Cruzalegui, S Cesar… - Rare Diseases …, 2022 - intechopen.com
Short QT syndrome (SQTS) is an extremely rare inherited arrhythmogenic entity. Nowadays,
less than 200 families affected worldwide have been reported. This syndrome is …