Diagnosis, prevalence, and screening of familial dilated cardiomyopathy
作者： Mary E Sweet , Matthew RG Taylor , Luisa Mestroni
DOI: 10.1517/21678707.2015.1057498
关键词:
摘要: Introduction: Dilated cardiomyopathy (DCM) is the most common and occurs often in families. As an inherited disease, understanding significance of diagnostic procedures genetic screening within families utmost importance.Areas covered: Genetic studies have shown that 30 – 40% familial DCM (FDC) cases a causative mutation can be identified. Successful analysis highly dependent on close examination patient family history, clinical guidelines exist recommending testing to aid evaluation members at risk developing FDC. Clinical offers resource for identify etiology their disease some may provide prognostic insight.Expert opinion: future FCD will focus elucidating remaining 60 70% causes pathogenic mechanisms leading phenotype. Specifically, regulatory regions, cop...
sci-hub.se 参考文章(43)
Luisa Mestroni, Matthew R.G. Taylor, Genetics and genetic testing of dilated cardiomyopathy: a new perspective. Discovery Medicine. ,vol. 15, pp. 43- 49 ,(2013)
Polakit Teekakirikul, Melissa A. Kelly, Heidi L. Rehm, Neal K. Lakdawala, Birgit H. Funke, Inherited Cardiomyopathies Molecular Genetics and Clinical Genetic Testing in the Postgenomic Era The Journal of Molecular Diagnostics. ,vol. 15, pp. 158- 170 ,(2013) , 10.1016/J.JMOLDX.2012.09.002
Ingrid A.W. van Rijsingen, Eloisa Arbustini, Perry M. Elliott, Jens Mogensen, Johanna F. Hermans-van Ast, Anneke J. van der Kooi, J. Peter van Tintelen, Maarten P. van den Berg, Andrea Pilotto, Michele Pasotti, Sharon Jenkins, Camilla Rowland, Uzma Aslam, Arthur A.M. Wilde, Andreas Perrot, Sabine Pankuweit, Aeilko H. Zwinderman, Philippe Charron, Yigal M. Pinto, Risk Factors for Malignant Ventricular Arrhythmias in Lamin A/C Mutation Carriers Journal of the American College of Cardiology. ,vol. 59, pp. 493- 500 ,(2012) , 10.1016/J.JACC.2011.08.078
Magdalena Harakalova, Gijs Kummeling, Arjan Sammani, Marijke Linschoten, Annette F. Baas, Jasper van der Smagt, Pieter A. Doevendans, J. Peter van Tintelen, Dennis Dooijes, Michal Mokry, Folkert W. Asselbergs, A systematic analysis of genetic dilated cardiomyopathy reveals numerous ubiquitously expressed and muscle-specific genes European Journal of Heart Failure. ,vol. 17, pp. 484- 493 ,(2015) , 10.1002/EJHF.255
Jan Haas, Karen S Frese, Barbara Peil, Wanda Kloos, Andreas Keller, Rouven Nietsch, Zhu Feng, Sabine Müller, Elham Kayvanpour, Britta Vogel, Farbod Sedaghat-Hamedani, Wei-Keat Lim, Xiaohong Zhao, Dmitriy Fradkin, Doreen Köhler, Simon Fischer, Jennifer Franke, Sabine Marquart, Ioana Barb, Daniel Tian Li, Ali Amr, Philipp Ehlermann, Derliz Mereles, Tanja Weis, Sarah Hassel, Andreas Kremer, Vanessa King, Emil Wirsz, Richard Isnard, Michel Komajda, Alessandra Serio, Maurizia Grasso, Petros Syrris, Eleanor Wicks, Vincent Plagnol, Luis Lopes, Tenna Gadgaard, Hans Eiskjær, Mads Jørgensen, Diego Garcia-Giustiniani, Martin Ortiz-Genga, Maria G Crespo-Leiro, Rondal H Lekanne Dit Deprez, Imke Christiaans, Ingrid A van Rijsingen, Arthur A Wilde, Anders Waldenstrom, Martino Bolognesi, Riccardo Bellazzi, Stellan Mörner, Justo Lorenzo Bermejo, Lorenzo Monserrat, Eric Villard, Jens Mogensen, Yigal M Pinto, Philippe Charron, Perry Elliott, Eloisa Arbustini, Hugo A Katus, Benjamin Meder, None, Atlas of the clinical genetics of human dilated cardiomyopathy European Heart Journal. ,vol. 36, pp. 1123- 1135 ,(2015) , 10.1093/EURHEARTJ/EHU301
MASSIMO ZECCHIN, ANDREA DI LENARDA, DARIO GREGORI, MARCO MERLO, ALBERTO PIVETTA, GIANCARLO VITRELLA, GASTONE SABBADINI, LUISA MESTRONI, GIANFRANCO SINAGRA, Are nonsustained ventricular tachycardias predictive of major arrhythmias in patients with dilated cardiomyopathy on optimal medical treatment Pacing and Clinical Electrophysiology. ,vol. 31, pp. 290- 299 ,(2008) , 10.1111/J.1540-8159.2008.00988.X
Nina Ghosh, Haissam Haddad, Recent progress in the genetics of cardiomyopathy and its role in the clinical evaluation of patients with cardiomyopathy. Current Opinion in Cardiology. ,vol. 26, pp. 155- 164 ,(2011) , 10.1097/HCO.0B013E3283439797
Sebastian J. Buss, Kristin Breuninger, Stephanie Lehrke, Andreas Voss, Christian Galuschky, Dirk Lossnitzer, Florian Andre, Philipp Ehlermann, Jennifer Franke, Tobias Taeger, Lutz Frankenstein, Henning Steen, Benjamin Meder, Evangelos Giannitsis, Hugo A. Katus, Grigorios Korosoglou, Assessment of myocardial deformation with cardiac magnetic resonance strain imaging improves risk stratification in patients with dilated cardiomyopathy European Journal of Echocardiography. ,vol. 16, pp. 307- 315 ,(2015) , 10.1093/EHJCI/JEU181
Emily L. Burkett, Ray E. Hershberger, Clinical and genetic issues in familial dilated cardiomyopathy Journal of the American College of Cardiology. ,vol. 45, pp. 969- 981 ,(2005) , 10.1016/J.JACC.2004.11.066
M B Codd, D D Sugrue, B J Gersh, L J Melton, Epidemiology of idiopathic dilated and hypertrophic cardiomyopathy. A population-based study in Olmsted County, Minnesota, 1975-1984. Circulation. ,vol. 80, pp. 564- 572 ,(1989) , 10.1161/01.CIR.80.3.564