Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls
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Walsh, Roddy | Lahrouchi, Najim | Tadros, Rafik | Kyndt, Florence | Glinge, Charlotte | Postema, Pieter | Amin, Ahmad | Nannenberg, Eline | Ware, James | Whiffin, Nicola | Mazzarotto, Francesco | Škorić-Milosavljević, Doris | Krijger, Christian | Arbelo, Elena | Babuty, Dominique | Barajas-Martinez, Hector | Beckmann, Britt | Bézieau, Stéphane | Bos, J. Martijn | Breckpot, Jeroen | Campuzano, Oscar | Castelletti, Silvia | Celen, Candan | Clauss, Sebastian | Corveleyn, Anniek | Crotti, Lia | Dagradi, Federica | de Asmundis, Carlo | Denjoy, Isabelle | Dittmann, Sven | Ellinor, Patrick | Ortuño, Cristina Gil | Giustetto, Carla | Gourraud, Jean-Baptiste | Hazeki, Daisuke | Horie, Minoru | Ishikawa, Taisuke | Itoh, Hideki | Kaneko, Yoshiaki | Kanters, Jørgen | Kimoto, Hiroki | Kotta, Maria-Christina | Krapels, Ingrid P.C. | Kurabayashi, Masahiko | Lazarte, Julieta | Leenhardt, Antoine | Loeys, Bart | Lundin, Catarina | Makiyama, Takeru | Mansourati, Jacques | Martins, Raphaël | Mazzanti, Andrea | Mörner, Stellan | Napolitano, Carlo | Ohkubo, Kimie | Papadakis, Michael | Rudic, Boris | Molina, Maria Sabater | Sacher, Frédéric | Sahin, Hatice | Sarquella-Brugada, Georgia | Sebastiano, Regina | Sharma, Sanjay | Sheppard, Mary | Shimamoto, Keiko | Shoemaker, M.Benjamin | Stallmeyer, Birgit | Steinfurt, Johannes | Tanaka, Yuji | Tester, David | Usuda, Keisuke | van der Zwaag, Paul | van Dooren, Sonia | van Laer, Lut | Winbo, Annika | Winkel, Bo | Yamagata, Kenichiro | Zumhagen, Sven | Volders, Paul G.A. | Lubitz, Steven | Antzelevitch, Charles | Platonov, Pyotr | Odening, Katja | Roden, Dan | Roberts, Jason | Skinner, Jonathan | Tfelt-Hansen, Jacob | van den Berg, Maarten | Olesen, Morten | Lambiase, Pier | Borggrefe, Martin | Hayashi, Kenshi | Rydberg, Annika | Nakajima, Tadashi | Yoshinaga, Masao | Saenen, Johan | Kääb, Stefan | Brugada, Pedro | Robyns, Tomas | Giachino, Daniela | Ackerman, Michael | Brugada, Ramon | Brugada, Josep | Gimeno, Juan | Hasdemir, Can | Guicheney, Pascale | Priori, Silvia | Schulze-Bahr, Eric | Makita, Naomasa | Schwartz, Peter | Shimizu, Wataru | Aiba, Takeshi | Schott, Jean-Jacques | Redon, Richard | Ohno, Seiko | Probst, Vincent | Arnaout, Alain Al | Amelot, Mathieu | Anselme, Frédéric | Billon, Olivier | Defaye, Pascal | Dupuis, Jean-Marc | Jesel, Laurence | Laurent, Gabriel | Maury, Philippe | Pasquie, Jean-Luc | Wiart, Francois | Behr, Elijah | Barc, Julien | Bezzina, Connie
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Abstract Dilated cardiomyopathy (DCM) is defined by the presence of left ventricular or biventricular dilatation and systolic dysfunction in the absence of abnormal loading conditions or coronary artery disease sufficient to explain these changes. This is a heterogeneous disease frequently having a genetic background. Imaging is important for the diagnosis, the prognostic assessment and for guiding therapy. A multimodality imaging approach provides a comprehensive evaluation of all the issues related to this disease. The present document aims to provide recommendations for the use of multimodality imaging according to the clinical question. Selection of one or another imaging technique should be based on the clinical condition and context. Techniques are presented with the aim to underscore what is ‘clinically relevant’ and what are the tools that ‘can be used’. There remain some gaps in evidence on the impact of multimodality imaging on the management and the treatment of DCM patients where ongoing research is important.
