![Loading...](https://link.springer.com/static/c4a417b97a76cc2980e3c25e2271af3129e08bbe/images/pdf-preview/spacer.gif)
-
Article
Open AccessCurrent gaps in knowledge in inherited arrhythmia syndromes
The 3 most common inherited arrhythmia syndromes—Brugada syndrome, congenital long QT syndrome and catecholaminergic polymorphic ventricular tachycardia—were initially described in the previous century. Since ...
-
Article
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
-
Article
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A, encoding the cardiac sodium channel NaV1.5, susceptibility genes remain largely u...
-
Article
Open AccessCOVID-19 pandemia and inherited cardiomyopathies and channelopathies: a short term and long term perspective
Inherited heart disease represent a very heterogenous group of cardiac disorders, characterized by inherited, acquired, and often rare disorders affecting the heart muscle (cardiomyopathies) or the cardiac ele...
-
Chapter and Conference Paper
A Systems Biology Approach to Decipher Genetic Variants in a Canine Model of Sudden Cardiac Death
Sudden cardiac death (SCD) represents a major public health challenge, accounting for approximately 25% of all cardiac deaths. It refers to an unexpected death from ventricular arrhythmia, occurring in indivi...
-
Chapter
Specific Cardiovascular Diseases and Competitive Sports Participation: Channelopathies
Long QT Syndrome, Short QT Syndrome, Brugada Syndrome and Catecholaminergic Polymorphic Ventricular Tachycardia are inherited primary disorders with the common denominators of a genetic basis and absence of st...
-
Article
Neuroimmune crosstalk in the pathophysiology of hypertension
Hypertension is an important risk factor for cardiovascular morbidity and mortality and for events such as myocardial infarction, stroke, heart failure and chronic kidney disease and is a major determinant of ...
-
Chapter
Genetics of Adult and Fetal Forms of Long QT Syndrome
Long QT syndrome (LQTS) is an inherited cardiac disease characterized by prolongation of QT interval at surface ECG, T-wave abnormalities, and high risk of life-threatening arrhythmias in otherwise healthy you...
-
Chapter
Long and Short QT Syndromes
The long and short QT syndromes are genetically transmitted arrhythmogenic diseases characterized by an abnormal QTc on the basal ECG and by an increased risk of life-threatening arrhythmias. While in the long...
-
Article
Open AccessCorrection: Corrigendum: Mutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies
Scientific Reports 6: Article number: 22235; published online: 26 February 2016; updated: 18 May 2016 In this Article, Lia Crotti is incorrectly affiliated with ‘Department of Cardiology, Fondazione IRCCS Poli...
-
Article
Open AccessMutation analysis of the phospholamban gene in 315 South Africans with dilated, hypertrophic, peripartum and arrhythmogenic right ventricular cardiomyopathies
Cardiomyopathy is an important cause of heart failure in Sub-Saharan Africa, accounting for up to 30% of adult heart failure hospitalisations. This high prevalence poses a challenge in societies without access...
-
Article
Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization
Christopher Newton-Cheh and colleagues report genome-wide association analyses for QT interval, an electrocardiographic measure reflecting myocardial repolarization, in 100,000 individuals. They identify 35 lo...
-
Article
Erratum: Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
Nat. Genet. 45, 1044–1049 (2013); published online 21 July 2013; corrected after print 4 October 2013 In the version of this article initially published, Martin Borggrefe and Rainer Schimpf were inadvertently ...
-
Article
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death
Connie Bezzina, Richard Redon and colleagues show that common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disorder with high risk of sudden cardiac death. The newly discovered l...
-
Chapter
PREDESTINATION: PRimary vEntricular fibrillation and suDden dEath during a firST myocardIal iNfArcTION: Genetic Basis
Sudden cardiac death (SCD) is the leading cause of death in the age group 20–65 years, in the western world, with an enormous social and economic impact. The majority of the cases of ventricular fibrillation (...
-
Article
Open AccessCongenital long QT syndrome
Congenital long QT syndrome (LQTS) is a hereditary cardiac disease characterized by a prolongation of the QT interval at basal ECG and by a high risk of life-threatening arrhythmias. Disease prevalence is esti...
-
Article
Idiopathic Ventricular Fibrillation