Cardiac arrhythmia

Julien Barc and Vincent Probst

Investigators : Julien Barc, Jean Baptiste Gourraud, Vincent Probst, Jean-Jacques Schott
Post-doc : Keiko Shimamoto
PhD Students : Maureen Choteau-Bodor, Marion Gaudin, Léa Ruffier
Support staff: Estelle Baron, Thimotée Chaumier, Virginie Forest, Camille Maïano, Floriane Simonet, Aurélie Thollet
 

Our team leads translational research programs combining basic and clinical research to improve clinical management of patients presenting cardiac diseases at risk of sudden cardiac death (SCD) (400,000 deaths per year in Europe).

We are taking advantage of large patient populations presenting inherited cardiac diseases and considered as sensitized model for SCD such as Brugada syndrome, Long QT syndrome, Catecholaminergic Polymorphic Ventricular Tachycardia, and arrhythmogenic cardiomyopathy to lead research programs based on multidisciplinary expertise developed within the team: clinical cardiology, genetics, epigenetics, bio-informatics, bio-statistics and functional genomics studies based on human cardiomyocytes derived iPSC models.

We aim to improve patient SCD risk stratification, better understand the underlying molecular mechanism to develop new therapeutic strategies. We are particularly developing predictive arrhythmic risk score based on genome wide association studies combined with clinical markers identified from our clinical databases and AI-based approaches. We then aim to identify patients at risk of SCD and then those who would really benefit from cardioverter-defibrillator implantation. We are also developing new therapeutic tools based on viral and non-viral approaches for correcting cardiac pathologies associated with gene expression dysregulation.

Learn more about our projects :

Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility Barc J*, Tadros R*, Glinge C*, Chiang DY*, Jouni M*, Simonet F*, [...], The International Brugada Syndrome Genetics Consortium, [...], Tanck MW, George AL Jr., MacRae CA, Burridge PW, Dina C, Probst V*, Wilde AA*, Schott JJ*, Redon R*, Bezzina CR*. Nat Genet, 2022 Mar.
 

Robustness and relevance of predictive score in sudden cardiac death for patients with Brugada syndrome. Probst V, Goronflot T, Anys S, Tixier R, Briand J, Berthome P, Geoffroy O, Clementy N, Mansourati J, Jesel L, Dupuis JM, Bru P, Kyndt F, Wargny M, Guyomarch B, Thollet A, Mabo P, Gourraud PA, Behar N, Sacher F, Gourraud JB.Eur Heart J. 2021 May 1;42(17):1687-1695.

Progressive Atrial Conduction Defects Associated With Bone Malformation Caused by a Connexin-45 Mutation. Seki* A, Ishikawa* T, Daumy* X, Mishima H, Barc J, Sasaki R, Nishii K, Saito K, Urano M, Ohno S, Otsuki S, Kimoto H, Baruteau A-E, Thollet A, Fouchard S, Bonnaud S, Parent P, Shibata Y, Perrin J-P, Le Marec H, Hagiwara N, Mercier S, Horie M, Probst V, Yoshiura* K-I, Redon* R, Schott* J-J, Makita* N. J Am Coll Cardiol 2017;70:358–370.

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome. Alex Lipov, Manon Baudic, Pierre Lindenbaum, Isabella Mengarelli, Matthew J. O’Neill, Fernanda M. Bosada, Yanushi Wijeyeratne, Luis de la Higuera Romero, Maarten Kooyman, Marion Gaudin, Graziella Aquilina, Leander Beekman, Estelle Baron, Mathilde Bertrand, Zoya Kingsbury, Mark T. Ross, Marre Corver, Paola Lombardi, Ingrid Krapels, Paul G. Volders, Rafik Tadros, Fenna Tuijnenburg, Karel van Duijvenboden, Ammar Al-Chalabi, Jan H. Veldink, Sean J. Jurgens, Aurélie Thollet, Eric Charpentier, Camille Maiano, Philippe Mabo, Antoine Leenhardt, Frederic Sacher, Arjan C. Houweling, Hanno L. Tan, Vincent M. Christoffels, Michael W. Tanck, Andrew Grace, Koonlawee Nademanee, Apichai Khongphatthanayothin, Andrew M. Glazer, Jean François Deleuze, FranceGenRef consortium, Juan Pablo Ochoa, Jérôme Montnach, Michel De Waard, Pieter G. Postema, Ahmad S. Amin, Jean-Baptiste Gourraud, Pascale Guicheney, Dan M. Roden, Jean-Jacques Schott, Christian Dina, Vincent Probst, Pier D. Lambiase, Elijah R. Behr, Arthur A.M. Wilde, Richard Redon, Roddy Walsh, Julien Barc, Connie R. Bezzina, Preprint medRxiv


TAD boundary deletion causes PITX2-related cardiac electrical and structural defects Manon Baudic , Hiroshige Murata, Fernanda M Bosada, Uirá Souto Melo, Takanori Aizawa , Pierre Lindenbaum, Lieve E van der Maarel, Amaury Guedon, Estelle Baron, Enora Fremy, Adrien Foucal , Taisuke Ishikawa, Hiroya Ushinohama, Sean J Jurgens, Seung Hoan Choi, Florence Kyndt, Solena Le Scouarnec, Vincent Wakker , Aurélie Thollet, Annabelle Rajalu, Tadashi Takaki, Seiko Ohno, Wataru Shimizu, Minoru Horie , Takeshi Kimura, Patrick T Ellinor, Florence Petit, Yves Dulac, Paul Bru , Anne Boland, Jean-François Deleuze , Richard Redon, Hervé Le Marec, Thierry Le Tourneau, Jean-Baptiste Gourraud, Yoshinori Yoshida, Naomasa Makita, Claude Vieyres, Takeru Makiyama, Stephan Mundlos, Vincent M Christoffels, Vincent Probst, Jean-Jacques Schott, Julien Barc. Nat Commun, 2024 Apr . 

Funding

  • Agence Nationale de la Recherche
  • Fédération Française de Cardiologie
  • Horizon Europe/European Innovation Council
  • Lefoulon Delalande
  • Région Pays de la Loire


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Updated on 31 July 2026.