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  1. Article

    Open Access

    Current 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 ...

    Puck J. Peltenburg, Lia Crotti, Thomas M. Roston in Netherlands Heart Journal (2023)

  2. 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

    Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang in Nature Genetics (2022)

  3. No Access

    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...

    Julien Barc, Rafik Tadros, Charlotte Glinge, David Y. Chiang in Nature Genetics (2022)

  4. Article

    Open Access

    COVID-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...

    Giuseppe Limongelli, Lia Crotti in Orphanet Journal of Rare Diseases (2020)

  5. No Access

    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...

    Martina Vescio, Lia Crotti, Peter Schwartz in XV Mediterranean Conference on Medical and… (2020)

  6. No Access

    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...

    Silvia Castelletti, Lia Crotti in Textbook of Sports and Exercise Cardiology (2020)

  7. No Access

    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 ...

    Laura Calvillo, Mariela M. Gironacci, Lia Crotti in Nature Reviews Cardiology (2019)

  8. No Access

    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...

    Lia Crotti, Alice Ghidoni, Federica Dagradi in Genetic Causes of Cardiac Disease (2019)

  9. No Access

    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...

    Lia Crotti, Maria-Christina Kotta, Silvia Castelletti in Channelopathies in Heart Disease (2018)

  10. Article

    Open Access

    Correction: 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...

    Maryam Fish, Gasnat Shaboodien, Sarah Kraus, Karen Sliwa in Scientific Reports (2016)

  11. Article

    Open Access

    Mutation 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...

    Maryam Fish, Gasnat Shaboodien, Sarah Kraus, Karen Sliwa in Scientific Reports (2016)

  12. No 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...

    Dan E Arking, Sara L Pulit, Lia Crotti, Pim van der Harst in Nature Genetics (2014)

  13. 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 ...

    Connie R Bezzina, Julien Barc, Yuka Mizusawa, Carol Ann Remme in Nature Genetics (2013)

  14. No Access

    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...

    Connie R Bezzina, Julien Barc, Yuka Mizusawa, Carol Ann Remme in Nature Genetics (2013)

  15. No Access

    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 (...

    Gaetano M. De Ferrari, Valentina De Regibus in New Diagnostic, Therapeutic and Organizati… (2013)

  16. Article

    Open Access

    Congenital 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...

    Lia Crotti, Giuseppe Celano, Federica Dagradi in Orphanet Journal of Rare Diseases (2008)

  17. No Access

    Article

    Idiopathic Ventricular Fibrillation

    Silvia G. Priori, Lia Crotti in Cardiac Electrophysiology Review (1999)