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Netherlands Heart Journal
Gepubliceerd in:

01-10-2010 | Original article

Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy

Auteurs: E. Otten, R. H. Lekanne dit Deprez, M. M. Weiss, M. van Slegtenhorst, M. Joosten, J. J. van der Smagt, N. de Jonge, W. S. Kerstjens-Frederikse, M. T. R. Roofthooft, A. H. M. M. Balk, M. P. van den Berg, J. S. Ruiter, J. P. van Tintelen

Gepubliceerd in: Netherlands Heart Journal | Uitgave 10/2010

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Extract

According to the European Society of Cardiology (ESC), cardiomyopathy is defined as a myocardial disorder in which the heart muscle is structurally and functionally abnormal, in the absence of an underlying cause.1 One of the subtypes, dilated cardiomyopathy (DCM), is characterised by abnormal ventricular enlargement together with impaired systolic function, eventually leading to heart failure. It is the most common indication for cardiac transplantation.2 DCM can be isolated, but also multiple family members can be affected. About 30% of DCM cases are reported to be familial.3-7 …
vorige artikel Improving guideline adherence in the treatment of atrial fibrillation by implementing an integrated chronic care program
volgende artikel One-year clinical follow-up of a registry evaluating a percutaneous revascularisation strategy combining a pre-specified simple selection process with the use of a new thin-strut bare cobalt-chromium stent
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Taylor DO, Stehlik J, Edwards LB, Aurora P, Christie JD, Dobbels F, et al. Registry of the international society for heart and lung transplantation: Twenty-sixth official adult heart transplant report-2009. J Heart Lung Transplant. 2009;28:1007-22.
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Martins E, Silva-Cardoso J, Alves C, Pereira H, Soares B, Damasceno A, et al. Familial dilated cardiomyopathy with troponin T K210del mutation. Rev Port Cardiol. 2006;25:295-300.
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MØller DV, Andersen PS, Hedley P, ErsbØll MK, Bundgaard H,Moolman-Smook J,, et al. The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy. Eur J Hum Genet. 2009;17:1241-9.
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Hanson EL, Jakobs PM, Keegan H, Coates K, Bousman S, Dienel NH,, et al. Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy. J Card Fail. 2002;8:28-32.
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Villard E, Duboscq-Bidot L, Charron P, Benaiche A, Conraads V, Sylvius N,al. Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene. Eur Heart J. 2005;26:751-4.
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Kamisago M, Sharma SD, DePalma SR, Solomon S, Sharma P, McDonough B, et al. Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy. N Engl J Med. 2000;343:1688-96.
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Mogensen J, Murphy RT, Shaw T, Bahl A, Redwood C, Watkins H, et al. Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy. J Am Coll Cardiol. 2004;44:2033-40.
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Osterziel KJ, Haßfeld S, Geier C, Perrot A. Familiare dilatative Kardiomyopathie. Herz. 2005;30:529-34.
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Seidman JG, Seidman C. The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms. Cell. 2001;104:557-67.
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Hershberger RE, Pinto J, Parks SB, Kushner JD, Li D, Ludwigsen S, et al. Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy. Circ Cardiovasc Genet. 2009; 2:306-13.
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van Tintelen JP, Hofstra RMW, Katerberg H, Rossenbacker T, Wiesfeld ACP, du Marchie Sarvaas GJ, et al. High yield of LMNA mutations in patients with dilated cardiomyopathy and/or conduction disease referred to cardiogenetics outpatient clinics. Am Heart J. 2007;154:1130-9.
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Venkatraman G, Harada K, Gomes AV, Kerrick WG, Potter JD. Different functional properties of troponin T mutants that cause dilated cardiomyopathy. J Biol Chem. 2003;278:41670-6.
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Morimoto S, Lu QW, Harada K, Takahashi-Yanaga F, Minakami R, Ohta M, et al. Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy. Proc Natl Acad Sci USA. 2002;99:913-8.
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Harada K, Morimoto S. Inherited cardiomyopathies as a troponin disease. Jpn J Physiol. 2004;54:307-18.
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Robinson P, Mirza M, Knott A, Abdulrazzak H, Willott R, Marston S, et al. Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy. J Biol Chem. 2002;277:40710-6.
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Stefanelli CB, Rosenthal A, Borisov AB, Ensing GJ, Russell MW. Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity. Mol Genet Metab. 2004;83:188-96.
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Kaski JP, Syrris P, Burch M, Tomé-Esteban M-T, Fenton M, Christiansen M, et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart. 2008; 94:1478-84.
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Metagegevens
Titel
Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy
Auteurs
E. Otten
R. H. Lekanne dit Deprez
M. M. Weiss
M. van Slegtenhorst
M. Joosten
J. J. van der Smagt
N. de Jonge
W. S. Kerstjens-Frederikse
M. T. R. Roofthooft
A. H. M. M. Balk
M. P. van den Berg
J. S. Ruiter
J. P. van Tintelen
Publicatiedatum
01-10-2010
Uitgeverij
Bohn Stafleu van Loghum
Gepubliceerd in
Netherlands Heart Journal / Uitgave 10/2010
Print ISSN: 1568-5888
Elektronisch ISSN: 1876-6250
DOI
https://doi.org/10.1007/BF03091819

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