Inherited cardiac arrhythmias

PJ Schwartz, MJ Ackerman, C Antzelevitch… - Nature reviews Disease …, 2020 - nature.com
The main inherited cardiac arrhythmias are long QT syndrome, short QT syndrome,
catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. These rare …

[HTML][HTML] HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes

SG Priori, AA Wilde, M Horie, Y Cho, ER Behr… - Journal of …, 2014 - Elsevier
This international consensus statement is the collaborative effort of three medical societies
representing electrophysiology in North America, Europe and Asian-Pacific area: the Heart …

HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership …

MJ Ackerman, SG Priori, S Willems, C Berul… - Europace, 2011 - academic.oup.com
1From Mayo Clinic, Rochester, Minnesota; 2Fondazione Salvatore Maugeri University of
Pavia, Pavia, Italy and New York University, New York, New York; 3University Hospital …

Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes

SG Priori, AA Wilde, M Horie, Y Cho, ER Behr… - Europace, 2013 - academic.oup.com
HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients
with inherited primary arrhythmia syndromes | EP Europace | Oxford Academic Skip to Main …

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

R Walsh, A Adler, AS Amin, E Abiusi… - European heart …, 2022 - academic.oup.com
Aims Catecholaminergic polymorphic ventricular tachycardia (CPVT) and short QT
syndrome (SQTS) are inherited arrhythmogenic disorders that can cause sudden death …

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 …

Mutations in calmodulin cause ventricular tachycardia and sudden cardiac death

M Nyegaard, MT Overgaard, MT Søndergaard… - The American Journal of …, 2012 - cell.com
Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a devastating inherited
disorder characterized by episodic syncope and/or sudden cardiac arrest during exercise or …

Cardiac ion channels

AO Grant - Circulation: Arrhythmia and Electrophysiology, 2009 - Am Heart Assoc
The analysis of the molecular basis of the inherited cardiac arrhythmias has been the driving
force behind the identification of the ion channels that generate the action potential. The …

The genetic basis of long QT and short QT syndromes: a mutation update

PL Hedley, P Jørgensen, S Schlamowitz… - Human …, 2009 - Wiley Online Library
Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization
abnormalities that are characterized by length perturbations of the QT interval as measured …

Cardiac T-tubule microanatomy and function

TT Hong, RM Shaw - Physiological reviews, 2017 - journals.physiology.org
Unique to striated muscle cells, transverse tubules (t-tubules) are membrane organelles that
consist of sarcolemma penetrating into the myocyte interior, forming a highly branched and …