Cardiac arrhythmia
Julien Barc, Jean-Jacques Schott and Vincent Probst
The primary objective of our group is to improve healthcare by combining basic research and clinical activity into translational research programs. Taking advantage of large pedigrees and one of the largest worldwide cohorts of patients suffering from inherited cardiac electrical disorders (Brugada syndrome, the long and short QT syndrome, the catecholaminergic polymorphic ventricular tachycardia, conduction defects, sinus dysfunction, idiopathic ventricular fibrillation and arrhythmogenic cardiomyopathy) we apply multi-omics screening strategies to establish clinical and genetic risk stratification for developing cardiac arrhythmia and prevent sudden cardiac death (SCD). The identification of new clinical and molecular markers from these ‘sensitized’ models of SCD are likely relevant to the broad problem of SCD.
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- REGIOCARD project
Our strategy based on whole genome screening allows us to open unique opportunities to interrogate the full spectrum genetic variations. Furthermore we are particularly interested in investigating the role of variants in the non-coding regions of the genome, seat of the gene regulation. We then developed the REGIOCARD program on cardiac epigenetics to functionally annotate the human cardiac regulatory regions.
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- LEARN project
- European Joint Programme on Rare Diseases: LQTS-NEXT
- International research partnership GAINES and VERACITIES (FEDER Grant)
Our research takes place in a context of international collaborations allowing young scientists to interact with the world leaders in the field, follow training to acquire new skills and develop their network.
Publications
Genome-wide association meta-analysis identifies novel Brugada Syndrome susceptibility loci and highlights 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 (accepted)
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.
Familial Catecholamine-Induced QT Prolongation in Unexplained Sudden Cardiac Death. Huchet* F, Kyndt* F, Barc* J, Thollet A, Charpentier F, Redon R, Schott JJ, le Marec H, Probst V, Gourraud JB. J Am Coll Cardiol 2017;69:1642–1643.
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. Bezzina CR*, Barc J*, Mizusawa Y*, Remme CA*, Gourraud J-B*, Simonet F, [...], Wilde AA*, Probst V*, Schott JJ*, Dina C*, Redon R*. Nat Genet 2013;45:1044–1049.
Funding
This programme has been financed by :
- Académie des sciences/ Institut du France
- AMRYC
- Agence Nationale Recherche
- CHU de Nantes
- Direction Générale de l'Offre de soin (PHRC-I)
- European Commission
- FEDER Pays de la Loire
- Fédération Française de Cardiologie
- GCS HUGO
- European Joint Programme on Rare Diseases
