Quelques publications récentes

Benefits of Impella and Peripheral Veno-Arterial Extra Corporeal Life Support Alliance.

Colombier S, Quessard A, Mastroianni C, Schmidt M, Amour J, Leprince P, Lebreton G. ASAIO J. 2018 Dec 11. doi: 10.1097/MAT.0000000000000922. [Epub ahead of print]

PMID: 30575629

 

Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.

Domínguez F, Cuenca S, Bilińska Z, Toro R, Villard E, Barriales-Villa R, Ochoa JP, Asselbergs F, Sammani A, Franaszczyk M, Akhtar M, Coronado-Albi MJ, Rangel-Sousa D, Rodriguez-Palomares JF, Jiménez-Jáimez J, Garcia-Pinilla JM, Ripoll-Vera T, Mogollón-Jiménez MV, Fontalba-Romero A, Garcia-Medina D, Palomino-Doza J, de Gonzalo-Calvo D, Cicerchia M, Salazar-Mendiguchia J, Salas C, Pankuweit S, Hey TM, Mogensen J, Barton PJ, Charron P, Elliott P, Garcia-Pavia P; European Genetic Cardiomyopathies Initiative Investigators.

J Am Coll Cardiol. 2018 Nov 13;72(20):2471-2481. doi: 10.1016/j.jacc.2018.08.2181.

PMID: 30442290

 

Genotype-phenotype correlations of pathogenic variants in the FLNC gene.

Ader F, Villard E, Ledeuil C, Charron P, Richard P.

Med Sci (Paris). 2018 Nov;34 Hors série n°2:39-41. doi: 10.1051/medsci/201834s211. Epub 2018 Nov 12. French. No abstract available.

PMID: 30418145

 

Systemic right ventricular takotsubo cardiomyopathy.

Vernay C, Karsenty C, Redheuil A, Soulat G, Iserin L.

Eur Heart J. 2018 Nov 21;39(44):3980-3981. doi: 10.1093/eurheartj/ehy604. No abstract available.

PMID: 30295791

 

Cardiometabolic assessment of lamin A/C gene mutation carriers: A phenotype-genotype correlation.

Kwapich M, Lacroix D, Espiard S, Ninni S, Brigadeau F, Kouakam C, Degroote P, Laurent JM, Tiffreau V, Jannin A, Humbert L, Ben Hamou A, Tard C, Ben Yaou R, Lamblin N, Klug D, Richard P, Vigouroux C, Bonne G, Vantyghem MC; Diamenord–AEDNL Working Group.

Diabetes Metab. 2018 Oct 1. pii: S1262-3636(18)30177-0. doi: 10.1016/j.diabet.2018.09.006. [Epub ahead of print]

PMID: 30287275

 

An African loss-of-function CACNA1C variant p.T1787M associated with a risk of ventricular fibrillation.

Blancard M, Debbiche A, Kato K, Cardin C, Sabrina G, Gandjbakhch E, Probst V, Haissaguerre M, Extramiana F, Hocini M, Olivier G, Leenhardt A, Guicheney P, Rougier JS.

Sci Rep. 2018 Oct 2;8(1):14619. doi: 10.1038/s41598-018-32867-4.

PMID: 30279520

 

High prevalence of ventricular repolarization abnormalities in people carrying TGFβR2 mutations.

Extramiana F, Milleron O, Elbitar S, Uccellini A, Langeois M, Spentchian M, Delorme G, Arnoult F, Denjoy I, Bouleti C, Fressart V, Iserin F, Maison-Blanche P, Abifadel M, Leenhardt A, Boileau C, Jondeau G.

Sci Rep. 2018 Aug 29;8(1):13019. doi: 10.1038/s41598-018-31298-5.

PMID: 30158670

 

Clinical Diagnosis, Imaging, and Genetics of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: JACC State-of-the-Art Review.

Gandjbakhch E, Redheuil A, Pousset F, Charron P, Frank R.

J Am Coll Cardiol. 2018 Aug 14;72(7):784-804. doi: 10.1016/j.jacc.2018.05.065. Review.

PMID: 30092956

 

Association of Oral Contraceptives With Drug-Induced QT Interval Prolongation in Healthy Nonmenopausal Women.

Salem JE, Dureau P, Bachelot A, Germain M, Voiriot P, Lebourgeois B, Trégouët DA, Hulot JS, Funck-Brentano C.

JAMA Cardiol. 2018 Sep 1;3(9):877-882. doi: 10.1001/jamacardio.2018.2251.

PMID: 30073300

 

SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.

Baruteau AE, Kyndt F, Behr ER, Vink AS, Lachaud M, Joong A, Schott JJ, Horie M, Denjoy I, Crotti L, Shimizu W, Bos JM, Stephenson EA, Wong L, Abrams DJ, Davis AM, Winbo A, Dubin AM, Sanatani S, Liberman L, Kaski JP, Rudic B, Kwok SY, Rieubland C, Tfelt-Hansen J, Van Hare GF, Guyomarc'h-Delasalle B, Blom NA, Wijeyeratne YD, Gourraud JB, Le Marec H, Ozawa J, Fressart V, Lupoglazoff JM, Dagradi F, Spazzolini C, Aiba T, Tester DJ, Zahavich LA, Beauséjour-Ladouceur V, Jadhav M, Skinner JR, Franciosi S, Krahn AD, Abdelsayed M, Ruben PC, Yung TC, Ackerman MJ, Wilde AA, Schwartz PJ, Probst V.

Eur Heart J. 2018 Aug 14;39(31):2879-2887. doi: 10.1093/eurheartj/ehy412.

PMID: 30059973

 

Sex differences in cardiac arrhythmia: a consensus document of the European Heart Rhythm Association, endorsed by the Heart Rhythm Society and Asia Pacific Heart Rhythm Society.

Linde C, Bongiorni MG, Birgersdotter-Green U, Curtis AB, Deisenhofer I, Furokawa T, Gillis AM, Haugaa KH, Lip GYH, Van Gelder I, Malik M, Poole J, Potpara T, Savelieva I, Sarkozy A; ESC Scientific Document Group.

Europace. 2018 Oct 1;20(10):1565-1565ao. doi: 10.1093/europace/euy067. Review. No abstract available.

PMID: 29961863

 

CRISPRed Cardiomyocytes to Decrypt Variants of Uncertain Significance.

Hulot JS, Vermersch E, Jouve C.

J Am Coll Cardiol. 2018 Jul 3;72(1):76-78. doi: 10.1016/j.jacc.2018.05.004. No abstract available.

PMID: 29957234

 

Risk Stratification in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia Without an Implantable Cardioverter-Defibrillator.

Maupain C, Badenco N, Pousset F, Waintraub X, Duthoit G, Chastre T, Himbert C, Hébert JL, Frank R, Hidden-Lucet F, Gandjbakhch E.

JACC Clin Electrophysiol. 2018 Jun;4(6):757-768. doi: 10.1016/j.jacep.2018.04.017.

PMID: 29929669

 

Increased long QT and torsade de pointes reporting on tamoxifen compared with aromatase inhibitors.

Grouthier V, Lebrun-Vignes B, Glazer AM, Touraine P, Funck-Brentano C, Pariente A, Courtillot C, Bachelot A, Roden DM, Moslehi JJ, Salem JE.

Heart. 2018 Nov;104(22):1859-1863. doi: 10.1136/heartjnl-2017-312934. Epub 2018 May 2.

PMID: 29720397

 

Perivascular fibrosis and the microvasculature of the heart. Still hidden secrets of pathophysiology?

Ytrehus K, Hulot JS, Perrino C, Schiattarella GG, Madonna R.

Vascul Pharmacol. 2018 Apr 27. pii: S1537-1891(17)30469-X. doi: 10.1016/j.vph.2018.04.007. [Epub ahead of print] Review.

PMID: 29709645

 

Characteristics and clinical assessment of unexplained sudden cardiac arrest in the real-world setting: focus on idiopathic ventricular fibrillation.

Waldmann V, Bougouin W, Karam N, Dumas F, Sharifzadehgan A, Gandjbakhch E, Algalarrondo V, Narayanan K, Zhao A, Amet D, Jost D, Geri G, Lamhaut L, Beganton F, Ludes B, Bruneval P, Plu I, Hidden-Lucet F, Albuisson J, Lavergne T, Piot O, Alonso C, Leenhardt A, Lellouche N, Extramiana F, Cariou A, Jouven X, Marijon E; Paris-SDEC investigators.

Eur Heart J. 2018 Jun 1;39(21):1981-1987. doi: 10.1093/eurheartj/ehy098.

PMID: 29566157

 

Pregnancy and newborn outcomes in arrhythmogenic right ventricular cardiomyopathy/dysplasia.

Gandjbakhch E, Varlet E, Duthoit G, Fressart V, Charron P, Himbert C, Maupain C, Bordet C, Hidden-Lucet F, Nizard J.

Int J Cardiol. 2018 May 1;258:172-178. doi: 10.1016/j.ijcard.2017.11.067.

PMID: 29544927

 

The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies.

Charron P, Elliott PM, Gimeno JR, Caforio ALP, Kaski JP, Tavazzi L, Tendera M, Maupain C, Laroche C, Rubis P, Jurcut R, Calò L, Heliö TM, Sinagra G, Zdravkovic M, Kavoliuniene A, Felix SB, Grzybowski J, Losi MA, Asselbergs FW, García-Pinilla JM, Salazar-Mendiguchia J, Mizia-Stec K, Maggioni AP; EORP Cardiomyopathy Registry Investigators .

Eur Heart J. 2018 May 21;39(20):1784-1793. doi: 10.1093/eurheartj/ehx819.

PMID: 29378019

 

Assessment of potential heart donors: A statement from the French heart transplant community.

Dorent R, Gandjbakhch E, Goéminne C, Ivanes F, Sebbag L, Bauer F, Epailly E, Boissonnat P, Nubret K, Amour J, Vermes E, Ou P, Guendouz S, Chevalier P, Lebreton G, Flecher E, Obadia JF, Logeart D, de Groote P.

Arch Cardiovasc Dis. 2018 Feb;111(2):126-139. doi: 10.1016/j.acvd.2017.12.001. Epub 2017 Dec 23. Review.

PMID: 29277435

 

Spectrum and Outcome of Patients Who Have Undergone Implantation of an Implantable Cardioverter Defibrillator After Aborted-Sudden Cardiac Arrest.

Extramiana F, Stordeur B, Furioli V, Gandjbakhch E, Lellouche N, Algalarrondo V, Varlet E, Messali A, Marijon E, Leenhardt A; GPUR Groupe Parisien Universitaire en Rythmologie Investigators.

Am J Cardiol. 2018 Jan 15;121(2):149-155. doi: 10.1016/j.amjcard.2017.10.001. Epub 2017 Oct 20.

PMID: 29153773

 

Pregnancy in women with a cardiomyopathy: Outcomes and predictors from a retrospective cohort.

Billebeau G, Etienne M, Cheikh-Khelifa R, Vauthier-Brouzes D, Gandjbakhch E, Isnard R, Nizard J, Komajda M, Dommergues M, Charron P.

Arch Cardiovasc Dis. 2018 Mar;111(3):199-209. doi: 10.1016/j.acvd.2017.05.010. Epub 2017 Nov 6.

PMID: 29102365

 

Total pericardium agenesis mistaken for arrhythmogenic right ventricular cardiomyopathy.

Laredo M, Duthoit G, Gandjbakhch E, Redheuil A, Hébert JL.

Eur Heart J Cardiovasc Imaging. 2018 Jan 1;19(1):120. doi: 10.1093/ehjci/jex251. No abstract available.

PMID: 29040463

 

Contemporary stroke prevention strategies in 11 096 European patients with atrial fibrillation: a report from the EURObservational Research Programme on Atrial Fibrillation (EORP-AF) Long-Term General Registry.

Boriani G, Proietti M, Laroche C, Fauchier L, Marin F, Nabauer M, Potpara T, Dan GA, Kalarus Z, Diemberger I, Tavazzi L, Maggioni AP, Lip GYH; EORP-AF Long-Term General Registry Investigators; Steering Committee (National Coordinators).

Europace. 2018 May 1;20(5):747-757. doi: 10.1093/europace/eux301.

PMID: 29016832

 

Natural genetic variation of the cardiactranscriptome in non-diseaseddonors and patients withdilatedcardiomyopathy.

Heinig M, Adriaens ME, Schafer S, van Deutekom HWM, Lodder EM, Ware JS, Schneider V, Felkin LE, Creemers EE, Meder B, Katus HA, Rühle F, Stoll M, Cambien F, Villard E, Charron P, Varro A, Bishopric NH, George AL Jr, Dos Remedios C, Moreno-Moral A, Pesce F, Bauerfeind A, Rüschendorf F, Rintisch C, Petretto E, Barton PJ, Cook SA, Pinto YM, Bezzina CR, Hubner N. GenomeBiol. 2017 Sep 14;18(1):170. doi: 10.1186/s13059-017-1286-z.

PMID:28903782

 

Role of GeneticTesting in InheritedCardiovascularDisease: A Review.

Cirino AL, Harris S, Lakdawala NK, Michels M, Olivotto I, Day SM, Abrams DJ, Charron P, Caleshu C, Semsarian C, Ingles J, Rakowski H, Judge DP, Ho CY.

JAMA Cardiol. 2017 Oct 1;2(10):1153-1160. doi: 10.1001/jamacardio.2017.2352.

PMID:28793145

 

Catheter ablation of organized atrial arrhythmias in orthotopicheart transplantation.

Mouhoub Y, Laredo M, Varnous S, Leprince P, Waintraub X, Gandjbakhch E, Hébert JL, Frank R, Maupain C, Pavie A, Hidden-Lucet F, Duthoit G.

J Heart Lung Transplant. 2017 Jul 21. pii: S1053-2498(17)31924-1. doi: 10.1016/j.healun.2017.07.022. [Epubahead of print]

PMID:28784326

 

Contribution of exomesequencing for genetic diagnostic in arrhythmogenic right ventricularcardiomyopathy/dysplasia.

Fedida J, Fressart V, Charron P, Surget E, Hery T, Richard P, Donal E, Keren B, Duthoit G, Hidden-Lucet F, Villard E, Gandjbakhch E.

PLoS One. 2017 Aug 2;12(8):e0181840. doi: 10.1371/journal.pone.0181840. eCollection 2017.

PMID: 28767663

 

Diagnosis and management of myocardialinvolvement in systemic immune-mediateddiseases: a position statement of the European Society of CardiologyWorking Group on Myocardial and PericardialDisease.

Caforio ALP, Adler Y, Agostini C, Allanore Y, Anastasakis A, Arad M, Böhm M, Charron P, Elliott PM, Eriksson U, Felix SB, Garcia-Pavia P, Hachulla E, Heymans S, Imazio M, Klingel K, Marcolongo R, MatucciCerinic M, Pantazis A, Plein S, Poli V, Rigopoulos A, Seferovic P, Shoenfeld Y, Zamorano JL, Linhart A.

EurHeart J. 2017 Sep 14;38(35):2649-2662. doi: 10.1093/eurheartj/ehx321. No abstract available.

PMID:28655210

 

DifferentialSarcomere and Electrophysiological Maturation of HumaniPSC-DerivedCardiacMyocytes in Monolayer vs. Aggregation-BasedDifferentiationProtocols.

Jeziorowska D, Fontaine V, Jouve C, Villard E, Dussaud S, Akbar D, Letang V, Cervello P, Itier JM, Pruniaux MP, Hulot JS.

Int J Mol Sci. 2017 Jun 1;18(6). pii: E1173. doi: 10.3390/ijms18061173.

PMID: 28587156

 

Shortening of the Short RefractoryPeriods in Short QT Syndrome.

Rollin A, Gandjbakhch E, Giustetto C, Scrocco C, Fourcade C, Monteil B, Mondoly P, Cardin C, Maupain C, Gaita F, Maury P.

J Am HeartAssoc. 2017 May 31;6(6). pii: e005684. doi: 10.1161/JAHA.117.005684.

PMID:28566296

 

A complex case of diabetes due to LMNA mutation.

Ambonville C, Bouldouyre MA, Laforêt P, Richard P, Benveniste O, Vigouroux C.

Rev Med Interne. 2017 Oct;38(10):695-699. doi: 10.1016/j.revmed.2017.04.006. Epub 2017 May 23. French. PMID:28545855

 

Multimodality Imaging in Restrictive Cardiomyopathies: An EACVI expert consensus document In collaboration with the "Working Group on myocardial and pericardialdiseases" of the European Society of CardiologyEndorsed by The IndianAcademy of Echocardiography.

Habib G, Bucciarelli-Ducci C, Caforio ALP, Cardim N, Charron P, Cosyns B, Dehaene A, Derumeaux G, Donal E, Dweck MR, Edvardsen T, Erba PA, Ernande L, Gaemperli O, Galderisi M, Grapsa J, Jacquier A, Klingel K, Lancellotti P, Neglia D, Pepe A, Perrone-Filardi P, Petersen SE, Plein S, Popescu BA, Reant P, Sade LE, Salaun E, Slart RHJA, Tribouilloy C, Zamorano J; EACVI Scientific Documents Committee; IndianAcademy of Echocardiography.

EurHeart J Cardiovasc Imaging. 2017 Oct 1;18(10):1090-1121. doi: 10.1093/ehjci/jex034. Review.

PMID:28510718

 

GetYourCell K.O. in the First Round.

Hulot JS.

CircRes. 2017 May 12;120(10):1522-1523. doi: 10.1161/CIRCRESAHA.117.310955. No abstract available.

PMID:28495980

 

High prevalence of arrhythmic and myocardial complications in patients withcardiacglycogenosis due to PRKAG2 mutations.

Thevenon J, Laurent G, Ader F, Laforêt P, Klug D, DuvaPentiah A, Gouya L, Maurage CA, Kacet S, Eicher JC, Albuisson J, Desnos M, Bieth E, Duboc D, Martin L, Réant P, Picard F, Bonithon-Kopp C, Gautier E, Binquet C, Thauvin-Robinet C, Faivre L, Bouvagnet P, Charron P, Richard P.

Europace. 2017 Apr 1;19(4):651-659. doi: 10.1093/europace/euw067.

PMID:28431061

 

Effect of intracoronary administration of AAV1/SERCA2a on ventricularremodelling in patients withadvancedsystolicheartfailure: resultsfrom the AGENT-HF randomized phase 2 trial.

Hulot JS, Salem JE, Redheuil A, Collet JP, Varnous S, Jourdain P, Logeart D, Gandjbakhch E, Bernard C, Hatem SN, Isnard R, Cluzel P, Le Feuvre C, Leprince P, Hammoudi N, Lemoine FM, Klatzmann D, Vicaut E, Komajda M, Montalescot G, Lompré AM, Hajjar RJ; AGENT-HF Investigators.

Eur J Heart Fail. 2017 Nov;19(11):1534-1541. doi: 10.1002/ejhf.826. Epub 2017 Apr 10.

PMID:28393439

 

AddingDefibrillationTherapy to Cardiac Resynchronization on the Basis of the Myocardial Substrate.

Barra S, Boveda S, Providência R, Sadoul N, Duehmke R, Reitan C, Borgquist R, Narayanan K, Hidden-Lucet F, Klug D, Defaye P, Gras D, Anselme F, Leclercq C, Hermida JS, Deharo JC, Looi KL, Chow AW, Virdee M, Fynn S, Le Heuzey JY, Marijon E, Agarwal S; French-UK-Sweden CRT Network.

J Am CollCardiol. 2017 Apr 4;69(13):1669-1678. doi: 10.1016/j.jacc.2017.01.042.

PMID:28359511

 

Exome-wide association studyrevealsnovelsusceptibilitygenes to sporadicdilatedcardiomyopathy.

Esslinger U, Garnier S, Korniat A, Proust C, Kararigas G, Müller-Nurasyid M, Empana JP, Morley MP, Perret C, Stark K, Bick AG, Prasad SK, Kriebel J, Li J, Tiret L, Strauch K, O'Regan DP, Marguiles KB, Seidman JG, Boutouyrie P, Lacolley P, Jouven X, Hengstenberg C, Komajda M, Hakonarson H, Isnard R, Arbustini E, Grallert H, Cook SA, Seidman CE, Regitz-Zagrosek V, Cappola TP, Charron P, Cambien F, Villard E.

 

PLoS One. 2017 Mar 15;12(3):e0172995. doi: 10.1371/journal.pone.0172995. eCollection 2017.

PMID:28296976

 

Epsilon wave on an electronicloop in a case of arrhythmogenic right ventriculardysplasiawithmyocarditis: an updateddefinition of the Epsilon wave.

Fontaine GH, Duthoit G, Li G, Andreoletti L, Gandjbakhch E, Frank R.

Europace. 2017 Jul 1;19(7):1084-1090. doi: 10.1093/europace/euw320. Review.

PMID:28062531

 

Impact of cardiacarrestresuscitateddonors on heart transplant recipients' outcome.

Galeone A, Varnous S, Lebreton G, Barreda E, Hariri S, Pavie A, Leprince P.

J ThoracCardiovascSurg. 2017 Mar;153(3):622-630. doi: 10.1016/j.jtcvs.2016.10.079. Epub 2016 Nov 16.

PMID:27938903

 

Hypertrophic obstructive cardiomyopathy.

Veselka J, Anavekar NS, Charron P.

Lancet. 2017 Mar 25;389(10075):1253-1267. doi: 10.1016/S0140-6736(16)31321-6. Epub 2016 Nov 30. Review. Erratum in: Lancet. 2017 Mar 25;389(10075):1194.

PMID:27912983

 

Post-cardiacarrestshocktreatedwithveno-arterialextracorporeal membrane oxygenation: An observationalstudy and propensity-score analysis.

Bougouin W, Aissaoui N, Combes A, Deye N, Lamhaut L, Jost D, Maupain C, Beganton F, Bouglé A, Karam N, Dumas F, Marijon E, Jouven X, Cariou A; SDEC Investigators.

Resuscitation. 2017 Jan;110:126-132. doi: 10.1016/j.resuscitation.2016.11.005. Epub 2016 Nov 17.

PMID:27865776

 

A type 2 ryanodinereceptor variant associatedwithreduced Ca2+ release and short-coupled torsades de pointes ventriculararrhythmia.

Fujii Y, Itoh H, Ohno S, Murayama T, Kurebayashi N, Aoki H, Blancard M, Nakagawa Y, Yamamoto S, Matsui Y, Ichikawa M, Sonoda K, Ozawa T, Ohkubo K, Watanabe I, Guicheney P, Horie M.

HeartRhythm. 2017 Jan;14(1):98-107. doi: 10.1016/j.hrthm.2016.10.015. Epub 2016 Oct 15.

PMID:27756708

 

Exomesequencing in arrhythmogenic right ventricularcardiomyopathy: a new diagnostic tool?

Gandjbakhch E, Villard E.

Europace. 2017 Jun 1;19(6):889-890. doi: 10.1093/europace/euw132. No abstract available.

PMID:27256415

 

Physicians' guideline adherence is associated with better prognosis in outpatients with heart failure with reduced ejection fraction: the QUALIFY international registry. Komajda M, Cowie MR, Tavazzi L, Ponikowski P, Anker SD, Filippatos GS; QUALIFY Investigators. Eur J Heart Fail. 2017 Nov;19(11):1414-1423.

PMID:28463464

 

Prenatalmoleculardiagnosis in RASA1-related disease.

Palmyre A, Eyries M, Senat MV, Ozanne A, Staraci S, Dufour P, Chinet T, Lacombe P, Soubrier F, Charron P.

Prenat Diagn. 2017 Dec;37(12):1261-1264. doi: 10.1002/pd.5165. Epub 2017 Nov 21. PMID:29025196

Risk stratification of sudden death in hypertrophic cardiomyopathy in 2016.

Dubourg O, Charron P, Sirol M, Siam-Tsieu V, Mansencal N.

Presse Med. 2016 May 24. pii: S0755-4982(16)30068-9. doi: 10.1016/j.lpm.2016.04.011. [Epub ahead of print] French.

PMID:27234906 

 

High prevalence of arrhythmic and myocardial complications in patients with cardiac glycogenosis due to PRKAG2 mutations.

Thevenon J, Laurent G, Ader F, Laforêt P, Klug D, DuvaPentiah A, Gouya L, Maurage CA, Kacet S, Eicher JC, Albuisson J, Desnos M, Bieth E, Duboc D, Martin L, Réant P, Picard F, Bonithon-Kopp C, Gautier E, Binquet C, Thauvin-Robinet C, Faivre L, Bouvagnet P, Charron P, Richard P.

Europace. 2016 May 17. pii: euw067. [Epub ahead of print]

PMID:27189955

 

Compound heterozygous FXN mutations and clinical outcome in friedreich ataxia.

Galea CA, Huq A, Lockhart PJ, Tai G, Corben LA, Yiu EM, Gurrin LC, Lynch DR, Gelbard S, Durr A, Pousset F, Parkinson M, Labrum R, Giunti P, Perlman SL, Delatycki MB, Evans-Galea MV.

Ann Neurol. 2016 Mar;79(3):485-95. doi: 10.1002/ana.24595.

PMID:26704351

 

Mutations in NEBL encoding the cardiac Z-disk protein nebulette are associated with various cardiomyopathies.

Perrot A, Tomasov P, Villard E, Faludi R, Melacini P, Lossie J, Lohmann N, Richard P, De Bortoli M, Angelini A, Varga-Szemes A, Sperling SR, Simor T, Veselka J, Özcelik C, Charron P.

Arch Med Sci. 2016 Apr 1;12(2):263-78. doi: 10.5114/aoms.2016.59250. Epub 2016 Apr 11.

PMID:27186169

 

Proposal for a revised definition of dilated cardiomyopathy, hypokinetic non-dilated cardiomyopathy, and its implications for clinical practice: a position statement of the ESC working group on myocardial and pericardial diseases.

Pinto YM, Elliott PM, Arbustini E, Adler Y, Anastasakis A, Böhm M, Duboc D, Gimeno J, de Groote P, Imazio M, Heymans S, Klingel K, Komajda M, Limongelli G, Linhart A, Mogensen J, Moon J, Pieper PG, Seferovic PM, Schueler S, Zamorano JL, Caforio AL, Charron P.

Eur Heart J. 2016 Jan 19. pii: ehv727. [Epub ahead of print] Review.

PMID:26792875

 

Exome sequencing in arrhythmogenic right ventricular cardiomyopathy: a new diagnostic tool?

Gandjbakhch E, Villard E.

Europace. 2016 Jun 2.pii: euw132. [Epub ahead of print] No abstract available.

PMID:27256415

 

European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology.

Elliott P, Charron P, Blanes JR, Tavazzi L, Tendera M, Konté M, Laroche C, Maggioni AP; EORP Cardiomyopathy Registry Pilot Investigators. Eur Heart J. 2016 Jan 7;37(2):164-73. doi: 10.1093/eurheartj/ehv497. Epub 2015 Sep 25.

PMID:26409010

 

Plakophilin-2 c.419C>T and risk of heart failure and arrhythmias in the general population.

Christensen AH, Kamstrup PR, Gandjbakhch E, Benn M, Jensen JS, Bundgaard H, Villard E, Tybjærg-Hansen A.

Eur J Hum Genet. 2016 May;24(5):732-8. doi: 10.1038/ejhg.2015.171. Epub 2015 Aug 12.

PMID:26264440

 

Incidence, Characteristics, Risk Factors, and Outcomes of Takotsubo Cardiomyopathy With and Without Ventricular Arrhythmia.

Auzel O, Mustafic H, Pillière R, El Mahmoud R, Dubourg O, Mansencal N.

Am J Cardiol. 2016 Apr 15;117(8):1242-7. doi: 10.1016/j.amjcard.2016.01.017. Epub 2016 Jan 28.

PMID:26874546

 

The genetics underlying acquired long QT syndrome: impact for genetic screening.

Itoh H, Crotti L, Aiba T, Spazzolini C, Denjoy I, Fressart V, Hayashi K, Nakajima T, Ohno S, Makiyama T, Wu J, Hasegawa K, Mastantuono E, Dagradi F, Pedrazzini M, Yamagishi M, Berthet M, Murakami Y, Shimizu W, Guicheney P, Schwartz PJ, Horie M. Eur Heart J. 2016 May 7;37(18):1456-64. doi: 10.1093/eurheartj/ehv695. Epub 2015 Dec 28.

PMID:26715165

 

Benign vs malignant inferolateral early repolarization: Focus on the T wave.

Roten L, Derval N, Maury P, Mahida S, Pascale P, Leenhardt A, Jesel L, Deisenhofer I, Kautzner J, Probst V, Rollin A, Ruidavets JB, Ferrières J, Sacher F, Heg D, Scherr D, Komatsu Y, Daly M, Denis A, Shah A, Hocini M, Jaïs P, Haïssaguerre M. Heart Rhythm. 2016 Apr;13(4):894-902. doi: 10.1016/j.hrthm.2015.11.020. Epub 2015 Dec 1.

PMID:26592849

 

Monomorphic ventricular tachycardia in patients with Brugada syndrome: A multicenter retrospective study.

Rodríguez-Mañero M, Sacher F, de Asmundis C, Maury P, Lambiase PD, Sarkozy A, Probst V, Gandjbakhch E, Castro-Hevia J, Saenen J, Fukushima Kusano K, Rollin A, Arbelo E, Valderrábano M, Arias MA, Mosquera-Pérez I, Schilling R, Chierchia GB, García-Bolao I, García-Seara J, Hernandez-Ojeda J, Kamakura T, Martínez-Sande L, González-Juanatey JR, Haïssaguerre M, Brugada J, Brugada P. Heart Rhythm. 2016 Mar;13(3):669-82. doi: 10.1016/j.hrthm.2015.10.038. Epub 2015 Oct 29.

PMID:26538325

 

Prognostic significance of fever-induced Brugada syndrome.

Mizusawa Y, Morita H, Adler A, Havakuk O, Thollet A, Maury P, Wang DW, Hong K, Gandjbakhch E, Sacher F, Hu D, Amin AS, Lahrouchi N, Tan HL, Antzelevitch C, Probst V, Viskin S, Wilde AA. Heart Rhythm. 2016 Mar 23. pii: S1547-5271(16)30088-1. doi: 10.1016/j.hrthm.2016.03.044. [Epub ahead of print]

PMID:27033637

 

Response to Letters Regarding Article, "Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation".

De Ferrari GM, Dusi V, Spazzolini C, Bos JM, Abrams DJ, Berul CI, Crotti L, Eldar M, Kharlap M, Khoury A, Krahn AD, Leenhardt A, Moir CR, Odero A, Nordkamp LO, Paul T, I Noguer FR, Shkolnikova M, Till J, Wilde AA, Ackerman MJ, Schwartz PJ. Circulation. 2016 Jan 26;133(4):e366-7. doi: 10.1161/CIRCULATIONAHA.115.019465. No abstract available.

PMID:26811283

 

Impact of clinical and genetic findings on the management of young patients with Brugada syndrome.

Andorin A, Behr ER, Denjoy I, Crotti L, Dagradi F, Jesel L, Sacher F, Petit B, Mabo P, Maltret A, Wong LC, Degand B, Bertaux G, Maury P, Dulac Y, Delasalle B, Gourraud JB, Babuty D, Blom NA, Schwartz PJ, Wilde AA, Probst V. Heart Rhythm. 2016 Jun;13(6):1274-82. doi: 10.1016/j.hrthm.2016.02.013. Epub 2016 Feb 24.

PMID:26921764

 

Reversible Severe Eosinophilic Endomyocardial Fibrosis During Pregnancy: A Case Report.

Pineton de Chambrun M, Charron P, Vauthier-Brouzes D, Cluzel P, Haroche J, Kahn JE, Amoura Z, Aubart FC. Medicine (Baltimore). 2015 Aug;94(32):e1307. doi: 10.1097/MD.0000000000001307.

PMID:26266372

 

Atlas of the clinical genetics of human dilated cardiomyopathy.

Haas J, Frese KS, Peil B, Kloos W, Keller A, Nietsch R, Feng Z, Müller S, Kayvanpour E, Vogel B, Sedaghat-Hamedani F, Lim WK, Zhao X, Fradkin D, Köhler D, Fischer S, Franke J, Marquart S, Barb I, Li DT, Amr A, Ehlermann P, Mereles D, Weis T, Hassel S, Kremer A, King V, Wirsz E, Isnard R, Komajda M, Serio A, Grasso M, Syrris P, Wicks E, Plagnol V, Lopes L, Gadgaard T, Eiskjær H, Jørgensen M, Garcia-Giustiniani D, Ortiz-Genga M, Crespo-Leiro MG, Deprez RH, Christiaans I, van Rijsingen IA, Wilde AA, Waldenstrom A, Bolognesi M, Bellazzi R, Mörner S, Bermejo JL, Monserrat L, Villard E, Mogensen J, Pinto YM, Charron P, Elliott P, Arbustini E, Katus HA, Meder B. Eur Heart J. 2015 May 7;36(18):1123-35a. doi: 10.1093/eurheartj/ehu301. Epub 2014 Aug 27.

PMID:25163546

 

Genetic advances in sarcomeric cardiomyopathies: state of the art.

Ho CY, Charron P, Richard P, Girolami F, Van Spaendonck-Zwarts KY, Pinto Y.

Cardiovasc Res. 2015 Apr 1;105(4):397-408. doi: 10.1093/cvr/cvv025. Epub 2015 Jan 29. Review.

PMID:25634555

 

Recommendations for the diagnosis and management of hypertrophic cardiomyopathy in 2014.

Dubourg O, Mansencal N, Charron P. Arch Cardiovasc Dis. 2015 Mar;108(3):151-5. doi: 10.1016/j.acvd.2014.12.002. Epub 2015 Feb 16. No abstract available.

PMID:25697816

 

Myocardial inflammation on cardiovascular magnetic resonance predicts left ventricular function recovery in children with recent dilated cardiomyopathy.

Raimondi F, Iserin F, Raisky O, Laux D, Bajolle F, Boudjemline Y, Boddaert N, Bonnet D. Eur Heart J Cardiovasc Imaging. 2015 Jul;16(7):756-62. doi: 10.1093/ehjci/jev002. Epub 2015 Feb 21.

PMID:25711351

 

Adult patients with Fabry disease: what does the cardiologist need to know?

Hagège AA, Germain DP. Heart. 2015 Jun;101(12):916-8. doi: 10.1136/heartjnl-2015-307472. Epub 2015 Mar 11. No abstract available.

PMID:25761995

 

The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics.

Mogensen J, van Tintelen JP, Fokstuen S, Elliott P, van Langen IM, Meder B, Richard P, Syrris P, Caforio AL, Adler Y, Anastasakis A, Gimeno JR, Klingel K, Linhart A, Imazio M, Pinto Y, Newbery R, Schmidtke J, Charron P. Eur Heart J. 2015 Jun 7;36(22):1367-70. doi: 10.1093/eurheartj/ehv122. Epub 2015 Apr 5. Review. No abstract available.

PMID:25845928

 

Involvement of BAG3 and HSPB7 loci in various etiologies of systolic heart failure: Results of a European collaboration assembling more than 2000 patients.

Garnier S, Hengstenberg C, Lamblin N, Dubourg O, De Groote P, Fauchier L, Trochu JN, Arbustini E, Esslinger U, Barton PJ, Meder B, Katus H, Frese K, Komajda M, Cook SA, Isnard R, Tiret L, Villard E, Charron P. Int J Cardiol. 2015;189:105-7. doi: 10.1016/j.ijcard.2015.04.003. Epub 2015 Apr 1. No abstract available.

PMID:25889438

 

Kinetic index combining native and postcontrast myocardial T1 in hypertrophic cardiomyopathy.

Kachenoura N, Besson-Hajji L, Graves MJ, Reid S, Soulat G, Ashrafpoor G, De Cesare A, Hagege A, Redheuil A, Mousseaux E. J Magn Reson Imaging. 2015 Dec;42(6):1713-22. doi: 10.1002/jmri.24947. Epub 2015 May 15.

PMID:25980519

 

Human embryonic stem cell-derived cardiac progenitors for severe heart failure treatment: first clinical case report.

Menasché P, Vanneaux V, Hagège A, Bel A, Cholley B, Cacciapuoti I, Parouchev A, Benhamouda N, Tachdjian G, Tosca L, Trouvin JH, Fabreguettes JR, Bellamy V, Guillemain R, Suberbielle Boissel C, Tartour E, Desnos M, Larghero J. Eur Heart J. 2015 Aug 7;36(30):2011-7. doi: 10.1093/eurheartj/ehv189. Epub 2015 May 19.

PMID:25990469

 

A 22-Year Follow-up Study of Long-term Cardiac Outcome and Predictors of Survival in Friedreich Ataxia.

Pousset F, Legrand L, Monin ML, Ewenczyk C, Charles P, Komajda M, Brice A, Pandolfo M, Isnard R, Tezenas du Montcel S, Durr A. JAMA Neurol. 2015 Nov;72(11):1334-41. doi: 10.1001/jamaneurol.2015.1855.

PMID:26414159

 

Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness.

Damy T, Costes B, Hagège AA, Donal E, Eicher JC, Slama M, Guellich A, Rappeneau S, Gueffet JP, Logeart D, Planté-Bordeneuve V, Bouvaist H, Huttin O, Mulak G, Dubois-Randé JL, Goossens M, Canoui-Poitrine F, Buxbaum JN. Eur Heart J. 2015 Nov 3. pii: ehv583. [Epub ahead of print]

PMID:26537620

 

High incidence and variable clinical outcome of cardiac hypertrophy due to ACAD9 mutations in childhood.

Collet M, Assouline Z, Bonnet D, Rio M, Iserin F, Sidi D, Goldenberg A, Lardennois C, Metodiev MD, Haberberger B, Haack T, Munnich A, Prokisch H, Rötig A. Eur J Hum Genet. 2015 Dec 16. doi: 10.1038/ejhg.2015.264. [Epub ahead of print]

PMID:26669660

 

Targeted Mybpc3 Knock-Out Mice with Cardiac Hypertrophy Exhibit Structural Mitral Valve Abnormalities.

Judge DP, Neamatalla H, Norris RA, Levine RA, Butcher JT, Vignier N, Kang KH, Nguyen Q, Bruneval P, Perier MC, Messas E, Jeunemaitre X, de Vlaming A, Markwald R, Carrier L, Hagège AA. J Cardiovasc Dev Dis. 2015;2(2):48-65. Epub 2015 Apr 21.

PMID:26819945

 

Rupture of mitral valve chordae in hypertrophic cardiomyopathy.

Boissier F, Achkouty G, Bruneval P, Fabiani JN, Nguyen AT, Riant E, Desnos M, Hagège A. Arch Cardiovasc Dis. 2015 Apr;108(4):244-9. doi: 10.1016/j.acvd.2015.01.003. Epub 2015 Mar 6.

PMID:25754909

 

Generating patient-specific induced pluripotent stem cells-derived cardiomyocytes for the treatment of cardiac diseases.

Jeziorowska D, Korniat A, Salem JE, Fish K, Hulot JS. Expert Opin Biol Ther. 2015;15(10):1399-409. doi: 10.1517/14712598.2015.1064109. Epub 2015 Jul 2. Review.

PMID:26134098

 

Correction of human phospholamban R14del mutation associated with cardiomyopathy using targeted nucleases and combination therapy.

Karakikes I, Stillitano F, Nonnenmacher M, Tzimas C, Sanoudou D, Termglinchan V, Kong CW, Rushing S, Hansen J, Ceholski D, Kolokathis F, Kremastinos D, Katoulis A, Ren L, Cohen N, Gho JM, Tsiapras D, Vink A, Wu JC, Asselbergs FW, Li RA, Hulot JS, Kranias EG, Hajjar RJ. Nat Commun. 2015 Apr 29;6:6955. doi: 10.1038/ncomms7955.

PMID:25923014

 

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

Behr ER, Savio-Galimberti E, Barc J, Holst AG, Petropoulou E, Prins BP, Jabbari J, Torchio M, Berthet M, Mizusawa Y, Yang T, Nannenberg EA, Dagradi F, Weeke P, Bastiaenan R, Ackerman MJ, Haunso S, Leenhardt A, Kääb S, Probst V, Redon R, Sharma S, Wilde A, Tfelt-Hansen J, Schwartz P, Roden DM, Bezzina CR, Olesen M, Darbar D, Guicheney P, Crotti L; UK10K Consortium, Jamshidi Y. Cardiovasc Res. 2015 Jun 1;106(3):520-9. doi: 10.1093/cvr/cvv042. Epub 2015 Feb 17.

PMID:25691538

 

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

Behr ER, Savio-Galimberti E, Barc J, Holst AG, Petropoulou E, Prins BP, Jabbari J, Torchio M, Berthet M, Mizusawa Y, Yang T, Nannenberg EA, Dagradi F, Weeke P, Bastiaenan R, Ackerman MJ, Haunso S, Leenhardt A, Kääb S, Probst V, Redon R, Sharma S, Wilde A, Tfelt-Hansen J, Schwartz P, Roden DM, Bezzina CR, Olesen M, Darbar D, Guicheney P, Crotti L; UK10K Consortium, Jamshidi Y. Cardiovasc Res. 2015 Jun 1;106(3):520-9. doi: 10.1093/cvr/cvv042. Epub 2015 Feb 17.

PMID:25691538

 

Clinical Management of Catecholaminergic Polymorphic Ventricular Tachycardia: The Role of Left Cardiac Sympathetic Denervation.

De Ferrari GM, Dusi V, Spazzolini C, Bos JM, Abrams DJ, Berul CI, Crotti L, Davis AM, Eldar M, Kharlap M, Khoury A, Krahn AD, Leenhardt A, Moir CR, Odero A, Olde Nordkamp L, Paul T, Rosés I Noguer F, Shkolnikova M, Till J, Wilde AA, Ackerman MJ, Schwartz PJ. Circulation. 2015 Jun 23;131(25):2185-93. doi: 10.1161/CIRCULATIONAHA.115.015731. Epub 2015 May 27.

PMID:26019152

 

Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

Itoh H, Berthet M, Fressart V, Denjoy I, Maugenre S, Klug D, Mizusawa Y, Makiyama T, Hofman N, Stallmeyer B, Zumhagen S, Shimizu W, Wilde AA, Schulze-Bahr E, Horie M, Tezenas du Montcel S, Guicheney P. Eur J Hum Genet. 2015 Dec 16. doi: 10.1038/ejhg.2015.257. [Epub ahead of print]

PMID:26669661

 

Description of 214 cases of autoimmune congenital heart block: Results of the French neonatal lupus syndrome.

Levesque K, Morel N, Maltret A, Baron G, Masseau A, Orquevaux P, Piette JC, Barriere F, Le Bidois J, Fermont L, Fain O, Theulin A, Sassolas F, Pezard P, Amoura Z, Guettrot-Imbert G, Le Mercier D, Georgin-Lavialle S, Deligny C, Hachulla E, Mouthon L, Ravaud P, Villain E, Bonnet D, Costedoat-Chalumeau N; “Lupus néonatal” group; Group of collaborators. Autoimmun Rev. 2015 Dec;14(12):1154-60. doi: 10.1016/j.autrev.2015.08.005. Epub 2015 Aug 15. Review.

PMID:26284740

 

Clinical course and outcome of antenatally detected atrioventricular block: experience of a single tertiary centre and review of the literature.

Kuleva M, Le Bidois J, Decaudin A, Villain E, Costedoat-Chalumeau N, Lemercier D, Dumez Y, Ville Y, Bonnet D, Salomon LJ. Prenat Diagn. 2015 Apr;35(4):354-61. doi: 10.1002/pd.4547. Epub 2015 Feb 26. Review.

PMID:25487821

 

A Common Mutation of Long QT Syndrome Type 1 in Japan.

Itoh H, Dochi K, Shimizu W, Denjoy I, Ohno S, Aiba T, Kimura H, Kato K, Fukuyama M, Hasagawa K, Schulze-Bahr E, Guicheney P, Horie M. Circ J. 2015;79(9):2026-30. doi: 10.1253/circj.CJ-15-0342. Epub 2015 Jun 29.

PMID:26118460

 

Role of electrophysiological studies in predicting risk of ventricular arrhythmia in early repolarization syndrome.

Mahida S, Derval N, Sacher F, Leenhardt A, Deisenhofer I, Babuty D, Schläpfer J, de Roy L, Frank R, Yli-Mayry S, Mabo P, Rostock T, Nogami A, Pasquié JL, de Chillou C, Kautzner J, Jesel L, Maury P, Berte B, Yamashita S, Roten L, Lim HS, Denis A, Bordachar P, Ritter P, Probst V, Hocini M, Jaïs P, Haïssaguerre M. J Am Coll Cardiol. 2015 Jan 20;65(2):151-9. doi: 10.1016/j.jacc.2014.10.043. Erratum in: J Am Coll Cardiol. 2015 Mar 24;65(11):1158.

PMID:25593056

 

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy.

Grupa Robocza Europejskiego Towarzystwa Kardiologicznego (ESC) do spraw rozpoznawania i postepowania w kardiomiopatii przerostowej, Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannopoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H. Kardiol Pol. 2014;72(11):1054-126. doi: 10.5603/KP.2014.0212. Polish. No abstract available.

PMID:25524376

 

A genome-wide association study identifies 6p21 as novel risk locus for dilated cardiomyopathy.

Meder B, Rühle F, Weis T, Homuth G, Keller A, Franke J, Peil B, Lorenzo Bermejo J, Frese K, Huge A, Witten A, Vogel B, Haas J, Völker U, Ernst F, Teumer A, Ehlermann P, Zugck C, Friedrichs F, Kroemer H, Dörr M, Hoffmann W, Maisch B, Pankuweit S, Ruppert V, Scheffold T, Kühl U, Schultheiss HP, Kreutz R, Ertl G, Angermann C, Charron P, Villard E, Gary F, Isnard R, Komajda M, Lutz M, Meitinger T, Sinner MF, Wichmann HE, Krawczak M, Ivandic B, Weichenhan D, Gelbrich G, El-Mokhtari NE, Schreiber S, Felix SB, Hasenfuß G, Pfeufer A, Hübner N, Kääb S, Arbustini E, Rottbauer W, Frey N, Stoll M, Katus HA. Eur Heart J. 2014 Apr;35(16):1069-77. doi: 10.1093/eurheartj/eht251. Epub 2013 Jul 12.

PMID:23853074

 

Prevalence and significance of rare RYR2 variants in arrhythmogenic right ventricular cardiomyopathy/dysplasia: results of a systematic screening.

Roux-Buisson N, Gandjbakhch E, Donal E, Probst V, Deharo JC, Chevalier P, Klug D, Mansencal N, Delacretaz E, Cosnay P, Scanu P, Extramiana F, Keller D, Hidden-Lucet F, Trapani J, Fouret P, Frank R, Fressart V, Fauré J, Lunardi J, Charron P. Heart Rhythm. 2014 Nov;11(11):1999-2009. doi: 10.1016/j.hrthm.2014.07.020. Epub 2014 Jul 17.

PMID:25041964

 

2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

Authors/Task Force members, Elliott PM, Anastasakis A, Borger MA, Borggrefe M, Cecchi F, Charron P, Hagege AA, Lafont A, Limongelli G, Mahrholdt H, McKenna WJ, Mogensen J, Nihoyannopoulos P, Nistri S, Pieper PG, Pieske B, Rapezzi C, Rutten FH, Tillmanns C, Watkins H. Eur Heart J. 2014 Oct 14;35(39):2733-79. doi: 10.1093/eurheartj/ehu284. Epub 2014 Aug 29. No abstract available.

PMID:25173338

 

FHL2 expression and variants in hypertrophic cardiomyopathy.

Friedrich FW, Reischmann S, Schwalm A, Unger A, Ramanujam D, Münch J, Müller OJ, Hengstenberg C, Galve E, Charron P, Linke WA, Engelhardt S, Patten M, Richard P, van der Velden J, Eschenhagen T, Isnard R, Carrier L.Basic Res Cardiol. 2014;109(6):451. doi: 10.1007/s00395-014-0451-8. Epub 2014 Oct 31.

PMID:25358972

 

Malignant response to ajmaline challenge in SCN5A mutation carriers: experience from a large familial study.

Gandjbakhch E, Fressart V, Duthoit G, Marquié C, Deharo JC, Pousset F, Hebert JL, Simon F, Himbert C, Klug D, Charron P, Hidden-Lucet F. Int J Cardiol. 2014 Mar 1;172(1):256-8. doi: 10.1016/j.ijcard.2013.12.269. Epub 2014 Jan 10. No abstract available.

PMID:24476701

 

Long-term follow-up of asymptomatic Brugada patients with inducible ventricular fibrillation under hydroquinidine.

Bouzeman A, Traulle S, Messali A, Extramiana F, Denjoy I, Narayanan K, Marijon E, Hermida JS, Leenhardt A. Europace. 2014 Apr;16(4):572-7. doi: 10.1093/europace/eut279. Epub 2013 Sep 25.

PMID:24068450

 

Complex Brugada syndrome inheritance in a family harbouring compound SCN5A and CACNA1C mutations.

Béziau DM, Barc J, O'Hara T, Le Gloan L, Amarouch MY, Solnon A, Pavin D, Lecointe S, Bouillet P, Gourraud JB, Guicheney P, Denjoy I, Redon R, Mabo P, le Marec H, Loussouarn G, Kyndt F, Schott JJ, Probst V, Baró I. Basic Res Cardiol. 2014;109(6):446. doi: 10.1007/s00395-014-0446-5. Epub 2014 Oct 24.

PMID:25341504

 

Side effects could certainly be decreased with lower dose of quinidine in asymptomatic Brugada patients, but what about efficacy? Author reply.

Bouzeman A, Leenhardt A. Europace. 2014 Jul;16(7):1100-1. doi: 10.1093/europace/eut418. Epub 2014 Jan 23. No abstract available.

PMID:24459247

 

Novel calmodulin mutations associated with congenital arrhythmia susceptibility.

Makita N, Yagihara N, Crotti L, Johnson CN, Beckmann BM, Roh MS, Shigemizu D, Lichtner P, Ishikawa T, Aiba T, Homfray T, Behr ER, Klug D, Denjoy I, Mastantuono E, Theisen D, Tsunoda T, Satake W, Toda T, Nakagawa H, Tsuji Y, Tsuchiya T, Yamamoto H, Miyamoto Y, Endo N, Kimura A, Ozaki K, Motomura H, Suda K, Tanaka T, Schwartz PJ, Meitinger T, Kääb S, Guicheney P, Shimizu W, Bhuiyan ZA, Watanabe H, Chazin WJ, George AL Jr. Circ Cardiovasc Genet. 2014 Aug;7(4):466-74. doi: 10.1161/CIRCGENETICS.113.000459. Epub 2014 Jun 10.

PMID:24917665

 

Type 2 short QT syndrome and vestibular dysfunction: mirror of the Jervell and Lange-Nielsen syndrome?

Maltret A, Wiener-Vacher S, Denis C, Extramiana F, Morisseau-Durand MP, Fressart V, Bonnet D, Chabbert C. Int J Cardiol. 2014 Feb 1;171(2):291-3. doi: 10.1016/j.ijcard.2013.11.078. Epub 2013 Dec 4. No abstract available.

PMID:24380499

 

A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation.

Ziyadeh-Isleem A, Clatot J, Duchatelet S, Gandjbakhch E, Denjoy I, Hidden-Lucet F, Hatem S, Deschênes I, Coulombe A, Neyroud N, Guicheney P. Heart Rhythm. 2014 Jun;11(6):1015-23. doi: 10.1016/j.hrthm.2014.02.021. Epub 2014 Feb 25.

PMID:24582607