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Phospholamban R14del mutation in patients diagnosed with dilated cardiomyopathy or arrhythmogenic right ventricular cardiomyopathy: evidence supporting the concept of arrhythmogenic ...

European Journal of Heart Failure, Zwaag, Paul A., Rijsingen, Ingrid A.W., Asimaki, Angeliki, Jongbloed, Jan D.H., Veldhuisen, Dirk J., Wiesfeld, Ans C.P., Cox, Moniek G.P.J., Lochem, Laura T., Boer, ...

Date : 01/11/2012 Item size : 216299 bytes

Nowadays, apart from confirmation of a clinical diagnosis, the main role for DNA diagnostics in cardiac disease is ‘cascade’ screening in families with an inherited cardiac disease.6 Cascade ...

European Journal of Heart Failure, Tintelen, J. Peter, Spaendonck‐Zwarts, Karin Y., Berg, Maarten P.

Date : 01/06/2010 Item size : 96368 bytes

Introduction Nuclear structural proteins lamin A and C are expressed in a variety of terminally differentiated tissues, and mutations in the LMNA gene that encodes lamin A and C can therefore cause a ...

European Journal of Heart Failure, Rijsingen, Ingrid A.W., Nannenberg, Eline A., Arbustini, Eloisa, Elliott, Perry M., Mogensen, Jens, Hermans‐van Ast, Johanna F., Kooi, Anneke J., Tintelen, J. ...

Date : 01/04/2013 Item size : 197564 bytes

The result section mentions that altogether six patients were diagnosed with LVHT.1 However, in the discussion the authors mention that only five had LVHT.1 In Table 1, 18 mutation carriers are ...

Europace, Letter to the Editor, Josef Finsterer, Claudia Stöllberger

Date : 01/02/2015 Item size : 113800 bytes

ICD role in preventing sudden cardiac death in Emery–Dreifuss muscular dystrophy with preserved myocardial function: 2013 ESC Guidelines on Cardiac Pacing and Cardiac Resynchronization ...

Europace, Letter to the Editor, Vincenzo Russo, Gerardo Nigro

Date : 01/02/2015 Item size : 127376 bytes

Arrhythmogenic right ventricular dysplasia type 1 and mutations in transforming growth factor β3 gene regulatory regions: a breakthrough? Arrhythmogenic right ventricular dysplasia (ARVD) is the ...

Cardiovascular Research, Editorial, Stanley Nattel, Jean-Jacques Schott

Date : 01/02/2005 Item size : 199393 bytes

The prognosis in untreated cases depends on several factors like history of syncope or aborted sudden death, severity of QTc prolongation and female gender. Treatment is highly effective in ...

European Heart Journal - Cardiovascular Imaging, Guest Editorial, R. Tukkie, A.A.M. Wilde

Date : 01/09/2003

Disease association is not conclusive, because data providing functional effects are missing. [...]the majority of SNP are located in intergenic regions of the human genome. For a long time, these ...

European Heart Journal, Editorial, Birgit Stallmeyer, Eric Schulze-Bahr

Date : 07/07/2015

The authors claim that there is a causal relation between the RYR2 mutation and LVHT but no data to prove this statement were provided.1 Left ventricular hypertrabeculation is associated with a huge ...

Europace, Letter to the Editor, Josef Finsterer, Claudia Stöllberger

Date : 01/12/2014

Disease causing mutations in genes encoding for desmosomal proteins have been reported in more than 4050% of ARVC patients.1,2 A rare form of ARVC is caused by a missense mutation within the gene of ...

European Heart Journal, Heart failure/cardiomyopathy, Hendrik Milting, Bärbel Klauke, Alex Hoerby Christensen, Jörg Müsebeck, Volker Walhorn, Sören Grannemann, Tamara Münnich, Tomo ...

Date : 07/04/2015