Genetics of sudden cardiac death

CR Bezzina, N Lahrouchi, SG Priori - Circulation research, 2015 - Am Heart Assoc
Sudden cardiac death occurs in a broad spectrum of cardiac pathologies and is an important
cause of mortality in the general population. Genetic studies conducted during the past 20 …

The intercalated disc: a unique organelle for electromechanical synchrony in cardiomyocytes

MS Nielsen, CJM van Opbergen… - Physiological …, 2023 - journals.physiology.org
The intercalated disc (ID) is a highly specialized structure that connects cardiomyocytes via
mechanical and electrical junctions. Although described in some detail by light microscopy …

Refining the molecular organization of the cardiac intercalated disc

SH Vermij, H Abriel, TAB van Veen - Cardiovascular research, 2017 - academic.oup.com
This review presents an extensively integrated model of the cardiac intercalated disc (ID), a
highly orchestrated structure that connects adjacent cardiomyocytes. Classically, three main …

Misinterpretation of the mouse ECG: 'musing the waves of Mus musculus'

BJ Boukens, MR Rivaud, S Rentschler… - The Journal of …, 2014 - Wiley Online Library
The ECG is a primary diagnostic tool in patients suffering from heart disease, underscoring
the importance of understanding factors contributing to normal and abnormal electrical …

Heritable arrhythmia syndromes associated with abnormal cardiac sodium channel function: ionic and non-ionic mechanisms

MR Rivaud, M Delmar, CA Remme - Cardiovascular research, 2020 - academic.oup.com
The cardiac sodium channel NaV1. 5, encoded by the SCN5A gene, is responsible for the
fast upstroke of the action potential. Mutations in SCN5A may cause sodium channel …

[HTML][HTML] Arrhythmogenic cardiomyopathy and Brugada syndrome: diseases of the connexome

E Agullo-Pascual, M Cerrone, M Delmar - FEBS letters, 2014 - Elsevier
This review summarizes data in support of the notion that the cardiac intercalated disc is the
host of a protein interacting network, called “the connexome”, where molecules classically …

Sudden unexpected death in epilepsy genetics: molecular diagnostics and prevention

AM Goldman, ER Behr, C Semsarian, RD Bagnall… - …, 2016 - Wiley Online Library
Epidemiologic studies clearly document the public health burden of sudden unexpected
death in epilepsy (SUDEP). Clinical and experimental studies have uncovered dynamic …

Modifier genes for sudden cardiac death

PJ Schwartz, L Crotti, AL George Jr - European Heart Journal, 2018 - academic.oup.com
Genetic conditions, even those associated with identical gene mutations, can present with
variable clinical manifestations. One widely accepted explanation for this phenomenon is …

Subcellular diversity of Nav1. 5 in cardiomyocytes: distinct functions, mechanisms and targets

GA Marchal, CA Remme - The Journal of Physiology, 2023 - Wiley Online Library
In cardiomyocytes, the rapid depolarisation of the membrane potential is mediated by the α‐
subunit of the cardiac voltage‐gated Na+ channel (NaV1. 5), encoded by the gene SCN5A …

Targeting the Microtubule EB1-CLASP2 Complex Modulates NaV1.5 at Intercalated Discs

GA Marchal, M Jouni, DY Chiang… - Circulation …, 2021 - Am Heart Assoc
Rationale: Loss-of-function of the cardiac sodium channel NaV1. 5 causes conduction
slowing and arrhythmias. NaV1. 5 is differentially distributed within subcellular domains of …