Sudden Death due to Troponin T Mutations
Johanna C Moolman,Valerie A. Corfield,Berthold M Posen,Kholiswa Ngumbela,Christine E. Seidman,Paul A. Brink,Hugh Watkins,Hugh Watkins +7 more
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TLDR
Data support the observation that apparently diverse cardiac troponin T gene mutations produce a consistent disease phenotype, and genotyping at this locus may be particularly informative in patient management and counselling.About:
This article is published in Journal of the American College of Cardiology.The article was published on 1997-03-01 and is currently open access. It has received 365 citations till now. The article focuses on the topics: TNNT2 & Troponin T.read more
Citations
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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)
Perry M. Elliott,Aris Anastasakis,Michael A. Borger,Martin Borggrefe,Franco Cecchi,Philippe Charron,Albert Hagège,Antoine Lafont,Giuseppe Limongelli,Heiko Mahrholdt,William J. McKenna,Jens Mogensen,Petros Nihoyannopoulos,Stefano Nistri,Petronella G. Pieper,Burkert Pieske,Claudio Rapezzi,Frans H. Rutten,Christoph Tillmanns,Hugh Watkins +19 more
TL;DR: The objective of this study was to establish a baseline level of confidence that the once-in-a-lifetime implantation trial—Reduce Inappropriate Therapy protocol can be trusted to provide safe and effective treatment for cardiac arrhythmia and stroke-like episodes.
Journal ArticleDOI
Hypertrophic cardiomyopathy: A Systematic review
TL;DR: An appreciation that HCM, although an important cause of death and disability at all ages, does not invariably convey ominous prognosis and is compatible with normal longevity should dictate a large measure of reassurance for many patients.
Journal ArticleDOI
2011 ACCF/AHA guideline for the diagnosis and treatment of hypertrophic cardiomyopathy: a report of the American College of Cardiology Foundation/American Heart Association Task Force on Practice Guidelines.
Bernard J. Gersh,Barry J. Maron,Robert O. Bonow,Joseph A. Dearani,Joseph A. Dearani,Michael A. Fifer,Mark S. Link,Srihari S. Naidu,Rick A. Nishimura,Steve R. Ommen,Harry Rakowski,Christine E. Seidman,Jeffrey A. Towbin,James E. Udelson,Clyde W. Yancy +14 more
TL;DR: This information is current as of May 14, 2012 and located on the World Wide Web at: http://content.onlinejacc.org/cgi/content/full/58/25/2703.
Journal ArticleDOI
American College of Cardiology/European Society of Cardiology Clinical Expert Consensus Document on Hypertrophic Cardiomyopathy: a report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the European Society of Cardiology Committee for Practice Guidelines
Barry J. Maron,William J. McKenna,Gordon K. Danielson,Lukas Kappenberger,Horst J. Kuhn,Christine E. Seidman,Pravin M. Shah,William H. Spencer,Paolo Spirito,Folkert J. Ten Cate,E. Douglas Wigle,Robert A. Vogel,Jonathan Abrams,Eric R. Bates,Bruce R. Brodie,Peter G. Danias,Gabriel Gregoratos,Mark A. Hlatky,Judith S. Hochman,Sanjiv Kaul,Robert C. Lichtenberg,Jonathan R. Lindner,Robert A. O'Rourke,Gerald M. Pohost,Richard S. Schofield,Cynthia M. Tracy,William L. Winters,Werner Klein,Silvia G. Priori,Angeles Alonso-Garcia,Carina Blomström-Lundqvist,Guy De Backer,Jaap W. Deckers,Markus Flather,Jaromír Hradec,Ali Oto,Alexander Parkhomenko,Sigmund Silber,Adam Torbicki +38 more
TL;DR: In this paper, the authors present a general approach for the natural history and clinical course of clinical diagnostics in the context of vascular flow outflow and genetic and molecular diagnostics.
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Hypertrophic Cardiomyopathy Distribution of Disease Genes, Spectrum of Mutations, and Implications for a Molecular Diagnosis Strategy
Pascale Richard,Philippe Charron,Lucie Carrier,C. Ledeuil,Theary Cheav,Claire Pichereau,A. Benaiche,Richard Isnard,Olivier Dubourg,Marc Burban,Jean Pierre Gueffet,Alain Millaire,Michel Desnos,Ketty Schwartz,Bernard Hainque,Michel Komajda +15 more
TL;DR: A systematic screening of 9 genes in a large population to evaluate the distribution of the disease genes, and to determine the best molecular strategy in clinical practice, found that screening of already known mutations is not helpful and several mutations should be searched.
References
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The metabolic basis of inherited disease
TL;DR: The metabolic basis of inherited disease, the metabolic basis for inherited disease as mentioned in this paper, The metabolic basis in inherited disease and inherited diseases, and inherited disease diagnosis and management, in the context of inherited diseases
Journal ArticleDOI
Sudden Cardiac Death
TL;DR: Total mortality, rather than classifications of cardiac and arrhythmic mortality, should be used as primary objectives for many outcome studies.
Journal ArticleDOI
Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.
Ludwig Thierfelder,Ludwig Thierfelder,Hugh Watkins,Hugh Watkins,Calum A. MacRae,Calum A. MacRae,Roger Lamas,William J. McKenna,Hans-Peter Vosberg,J.G. Seldman,Christine E. Seidman +10 more
TL;DR: It is shown that missense mutations in the alpha-tropomyosin gene cause familial hypertrophic cardiomyopathy (FHC), and it is suggested that abnormal stoichiometry of sarcomeric proteins can cause cardiac hypertrophy.
Journal ArticleDOI
Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.
Hugh Watkins,W J McKenna,Ludwig Thierfelder,Suk Hj,Anan R,O'Donoghue A,Spirito P,Akira Matsumori,Moravec Cs,Jonathan G. Seidman +9 more
TL;DR: Mutations in alpha-tropomyosin are a rare cause of familial hypertrophic cardiomyopathy, accounting for approximately 3 percent of cases in this referral-center population.