Molecular genetic testing according to the latest European guidelines on hypertrophic cardiomyopathy

作者: Luisa Mestroni , Gianfranco Sinagra , Francesca Brun

DOI: 10.1714/1820.19818

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参考文章(26)
Sara L. Van Driest, Erik G. Ellsworth, Steve R. Ommen, A. Jamil Tajik, Bernard J. Gersh, Michael J. Ackerman, Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. Circulation. ,vol. 108, pp. 445- 451 ,(2003) , 10.1161/01.CIR.0000080896.52003.DF
Paal Skytt Andersen, Ole Havndrup, Lotte Hougs, Karina M. Sørensen, Morten Jensen, Lars Allan Larsen, Paula Hedley, Alex Rojas Bie Thomsen, Johanna Moolman-Smook, Michael Christiansen, Henning Bundgaard, Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives. Human Mutation. ,vol. 30, pp. 363- 370 ,(2009) , 10.1002/HUMU.20862
Iacopo Olivotto, Francesca Girolami, Roberto Sciagrà, Michael J. Ackerman, Barbara Sotgia, J. Martijn Bos, Stefano Nistri, Aurelio Sgalambro, Camilla Grifoni, Francesca Torricelli, Paolo G. Camici, Franco Cecchi, Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations. Journal of the American College of Cardiology. ,vol. 58, pp. 839- 848 ,(2011) , 10.1016/J.JACC.2011.05.018
Michael J. Ackerman, Silvia G. Priori, Stephan Willems, Charles Berul, Ramon Brugada, Hugh Calkins, A. John Camm, Patrick T. Ellinor, Michael Gollob, Robert Hamilton, Ray E. Hershberger, Daniel P. Judge, Hervè Le Marec, William J. McKenna, Eric Schulze-Bahr, Chris Semsarian, Jeffrey A. Towbin, Hugh Watkins, Arthur Wilde, Christian Wolpert, Douglas P. Zipes, HRS/EHRA Expert Consensus Statement on the State of Genetic Testing for the Channelopathies and Cardiomyopathies: This document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA) Heart Rhythm. ,vol. 8, pp. 1308- 1339 ,(2011) , 10.1016/J.HRTHM.2011.05.020
Wilma P. van der Roest, José M. Pennings, Marian Bakker, Maarten P. van den Berg, J. Peter van Tintelen, Family letters are an effective way to inform relatives about inherited cardiac disease. American Journal of Medical Genetics Part A. ,vol. 149, pp. 357- 363 ,(2009) , 10.1002/AJMG.A.32672
Iacopo Olivotto, Francesca Girolami, Michael J. Ackerman, Stefano Nistri, J. Martijn Bos, Elisabetta Zachara, Steve R. Ommen, Jeanne L. Theis, Rachael A. Vaubel, Federica Re, Corinna Armentano, Corrado Poggesi, Francesca Torricelli, Franco Cecchi, Myofilament Protein Gene Mutation Screening and Outcome of Patients With Hypertrophic Cardiomyopathy Mayo Clinic Proceedings. ,vol. 83, pp. 630- 638 ,(2008) , 10.4065/83.6.630
Francesca Girolami, Carolyn Y. Ho, Christopher Semsarian, Massimo Baldi, Melissa L. Will, Katia Baldini, Francesca Torricelli, Laura Yeates, Franco Cecchi, Michael J. Ackerman, Iacopo Olivotto, Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations. Journal of the American College of Cardiology. ,vol. 55, pp. 1444- 1453 ,(2010) , 10.1016/J.JACC.2009.11.062
Laine Friedman Ross, Howard M Saal, Karen L David, Rebecca R Anderson, None, Technical report: Ethical and policy issues in genetic testing and screening of children Genetics in Medicine. ,vol. 15, pp. 234- 245 ,(2013) , 10.1038/GIM.2012.176
Morten K. Jensen, Ole Havndrup, Michael Christiansen, Paal S. Andersen, Birgitte Diness, Anna Axelsson, Flemming Skovby, Lars Køber, Henning Bundgaard, Penetrance of Hypertrophic Cardiomyopathy in Children and Adolescents A 12-Year Follow-up Study of Clinical Screening and Predictive Genetic Testing Circulation. ,vol. 127, pp. 48- 54 ,(2013) , 10.1161/CIRCULATIONAHA.111.090514