Arrhythmic Phenotypes Are a Defining Feature of Dilated Cardiomyopathy-Associated SCN5A Variants: A Systematic Review

S Peters, BA Thompson, M Perrin, P James… - Circulation: Genomic …, 2022 - Am Heart Assoc
Background: Variants in the SCN5A gene, that encodes the cardiac sodium channel, Nav1.
5, are associated with a highly arrhythmogenic form of dilated cardiomyopathy (DCM). Our …

[HTML][HTML] Multifocal ectopic purkinje-related premature contractions and related cardiomyopathy

K Calloe, HBD Magnusson, DL Lildballe… - Frontiers in …, 2023 - frontiersin.org
In the past 20 years, genetic variants in SCN5A encoding the cardiac voltage-gated sodium
channel Nav1. 5 have been linked to a range of inherited cardiac arrhythmias: variants …

Loss of Nexilin function leads to a recessive lethal fetal cardiomyopathy characterized by cardiomegaly and endocardial fibroelastosis

J Johansson, C Frykholm, K Ericson… - American Journal of …, 2022 - Wiley Online Library
Abstract The Nexilin F‐Actin Binding Protein (Nexilin) encoded by NEXN is a cardiac Z‐disc
protein important for cardiac function and development in humans, zebrafish, and mice …

Childhood onset nexilin dilated cardiomyopathy: A heterozygous and a homozygous case

L Bruyndonckx, JL Vogelzang… - American Journal of …, 2021 - Wiley Online Library
Pathogenic heterozygous NEXN variants are associated with progressive dilated
cardiomyopathy (DCM) usually presenting around 50 years of age. We describe an …

Nexilin in cardiomyopathy: unveiling its diverse roles with special focus on endocardial fibroelastosis

M Rahimzadeh, S Tennstedt, Z Aherrahrou - Heart failure reviews, 2024 - Springer
Cardiac disorders exhibit considerable heterogeneity, and understanding their genetic
foundations is crucial for their diagnosis and treatment. Recent genetic analyses involving a …

[HTML][HTML] Biallelic NEXN variants and fetal onset dilated cardiomyopathy: two independent case reports and revision of literature

I Picciolli, A Ratti, B Rinaldi, A Baban, M Iascone… - Italian Journal of …, 2024 - Springer
Background Dilated cardiomyopathy (DCM) is an etiologically heterogeneous group of
diseases of the myocardium. With the rapid evolution in laboratory investigations, genetic …

[HTML][HTML] Overview of Sudden Cardiac Deaths

A Burke - Journal of Forensic Science and Medicine, 2022 - journals.lww.com
Sudden cardiac death (SCD) is an unexpected cardiac death that is instantaneous or occurs
within a short period of time after onset of symptoms, in a person in a stable state of health …

[HTML][HTML] 参仙升脉口服液对病态窦房结综合征小鼠ROS 表达的影响和对HCN4 离子通道的调控作用

毛丹, 李志爽, 程佳新, 侯平 - 吉林大学学报(医学版), 2021 - xuebao.jlu.edu.cn
参仙升脉口服液对病态窦房结综合征小鼠ROS表达的影响和对HCN4离子通道的调控作用 首页
期刊简介 期刊介绍 影响因子 获奖情况 收录情况 编辑部简介 编委会 征稿征订 征稿简则 征订说明 …

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

C Micolonghi, F Perrone, M Fabiani, S Caroselli… - 2024 - preprints.org
Abstract Hereditary cardiomyopathies (CMPs), including Arrhythmogenic Right Ventricular
Cardiomyopathy (ARVC), Dilated Cardiomyopathy (DCM), and Hypertrophic …

[HTML][HTML] A unique case of left ventricle apical hypoplasia presenting with a type 1 Brugada ECG pattern and NEXN mutation. Are they related?

A Marinelli, A Costa, C Dugo, A Cecchetto… - HeartRhythm Case …, 2021 - Elsevier
Left ventricle apical hypoplasia (LVAH) is a rare congenital anomaly characterized by a
smaller left ventricle (LV) and a surrounding right ventricle (RV). Only few cases have been …