Epidemiology and Clinical Aspects of Genetic Cardiomyopathies

作者: Daniele Masarone , Juan Pablo Kaski , Giuseppe Pacileo , Perry M. Elliott , Eduardo Bossone

DOI: 10.1016/J.HFC.2017.12.007

关键词: Intensive care medicineClinical registrySudden deathStandard of careEpidemiologyDisease stagesMedicineDiseaseClinical courseNatural history

摘要: Cardiomyopathies (CMPs) are an increasingly recognized cause of heart failure and sudden death, particularly in young patients. Since their original description, major advances were achieved the phenotype knowledge, natural history, nosography CMPs leading to different classification systems therapies. However, a deeper knowledge causes, genotype-phenotype link, history disease stages (preclinical, overt disease, end-stage disease) according standard care (ie, international guidelines) is needed. Clinical registries can fill gaps our regarding uncovered issues on cause, clinical course, management CMPs.

参考文章(50)
Christopher M. Kramer, Evan Appelbaum, Milind Y. Desai, Patrice Desvigne-Nickens, John P. DiMarco, Matthias G. Friedrich, Nancy Geller, Sarahfaye Heckler, Carolyn Y. Ho, Michael Jerosch-Herold, Elizabeth A. Ivey, Julianna Keleti, Dong-Yun Kim, Paul Kolm, Raymond Y. Kwong, Martin S. Maron, Jeanette Schulz-Menger, Stefan Piechnik, Hugh Watkins, William S. Weintraub, Pan Wu, Stefan Neubauer, Hypertrophic Cardiomyopathy Registry: The rationale and design of an international, observational study of hypertrophic cardiomyopathy American Heart Journal. ,vol. 170, pp. 223- 230 ,(2015) , 10.1016/J.AHJ.2015.05.013
Dietrich Klauwer, Anna Cavigelli-Brunner, Hitendu Dave, Michael Hübler, Oliver Kretschmar, Christoph Bürki, Brian Stiasny, Christian Balmer, Martin Schweiger, Pediatric heart transplantation Journal of Thoracic Disease. ,vol. 7, pp. 552- 559 ,(2015) , 10.3978/J.ISSN.2072-1439.2015.01.38
Domenico Corrado, Thomas Wichter, Mark S. Link, Richard N.W. Hauer, Frank E. Marchlinski, Aris Anastasakis, Barbara Bauce, Cristina Basso, Corinna Brunckhorst, Adalena Tsatsopoulou, Harikrishna Tandri, Matthias Paul, Christian Schmied, Antonio Pelliccia, Firat Duru, Nikos Protonotarios, NA Mark Estes, William J. McKenna, Gaetano Thiene, Frank I. Marcus, Hugh Calkins, Treatment of Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia: An International Task Force Consensus Statement. Circulation. ,vol. 132, pp. 441- 453 ,(2015) , 10.1161/CIRCULATIONAHA.115.017944
James D Wilkinson, Lynn A Sleeper, Jorge A Alvarez, Natalya Bublik, Steven E Lipshultz, Pediatric Cardiomyopathy Study Group, The Pediatric Cardiomyopathy Registry: 1995–2007 Progress in Pediatric Cardiology. ,vol. 25, pp. 31- 36 ,(2008) , 10.1016/J.PPEDCARD.2007.11.006
Steven D. Colan, Hypertrophic Cardiomyopathy in Childhood Heart Failure Clinics. ,vol. 6, pp. 433- 444 ,(2010) , 10.1016/J.HFC.2010.05.004
Srijita Sen-Chowdhry, Petros Syrris, William J. McKenna, Genetics of Restrictive Cardiomyopathy Heart Failure Clinics. ,vol. 6, pp. 179- 186 ,(2010) , 10.1016/J.HFC.2009.11.005
J. F. Goodwin, H. Gordon, A. Hollman, M. B. Bishop, Clinical Aspects of Cardiomyopathy BMJ. ,vol. 1, pp. 69- 79 ,(1961) , 10.1136/BMJ.1.5219.69
Ray E Hershberger, Ana Morales, Jill D Siegfried, Clinical and genetic issues in dilated cardiomyopathy: A review for genetics professionals Genetics in Medicine. ,vol. 12, pp. 655- 667 ,(2010) , 10.1097/GIM.0B013E3181F2481F
G Frisso, G Limongelli, G Pacileo, A Del Giudice, L Forgione, P Calabrò, M Iacomino, N Detta, LM Di Fonzo, V Maddaloni, R Calabrò, F Salvatore, A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy. Clinical Genetics. ,vol. 76, pp. 91- 101 ,(2009) , 10.1111/J.1399-0004.2009.01190.X