Literature DB >> 25696657

GENCOR: a national registry for patients and families suffering from a familial heart disease in the Netherlands.

J F Hermans, I Christiaans, J P van Tintelen, A A M Wilde, Y M Pinto.   

Abstract

INTRODUCTION: Developments in DNA-diagnostic techniques allow us to identify a significant proportion of patients with gene mutations causing familial heart diseass (arrhythmia syndromes, cardiomyopathies etc.) and to identify family members in early stages of the disease and/or even before symptoms occur. Early treatment can prevent sudden cardiac death and disease progression. However, data on long-term outcome in unselected genotyped patients are scarce due to a lack of large registries. In 2005, a national internet-based registry for familial heart diseases in the Netherlands, named GENCOR, was developed in collaboration with the Interuniversity Cardiology Institute of the Netherlands (ICIN).
OBJECTIVES: GENCOR aims to assess the prevalence of familial heart diseases in patients and families in the Netherlands and to facilitate research to improve the quality of diagnostics and therapy in familial heart diseases.
METHODS: Patients who visit the (cardio)genetic outpatient clinic are informed about GENCOR and asked to consent to the storage of information about cardiac examinations, family history and DNA diagnostics from all their visits. Patient data are entered into the internet-based GENCOR database by the cardiologist or clinical geneticist in attendance. Additional information can be stored for scientific research.
RESULTS: Four university hospitals are actively obtaining informed consent from the patients, which resulted in the inclusion of more than 300 patients. In 2006, more university hospitals will start using GENCOR and the aim is that all university hospitals will participate. Three research projects have already started using GENCOR.
CONCLUSION: GENCOR is already a success, regarding the number of included patients and the related research projects set up within a limited period of time. GENCOR provides easy internet-based access for authorised cardiologists, clinical geneticists and scientists throughout the country.

Entities:  

Keywords:  genetics, hereditary; heart disease (familial); registries

Year:  2006        PMID: 25696657      PMCID: PMC2557200     

Source DB:  PubMed          Journal:  Neth Heart J        ISSN: 1568-5888            Impact factor:   2.380


  9 in total

1.  A single Na(+) channel mutation causing both long-QT and Brugada syndromes.

Authors:  C Bezzina; M W Veldkamp; M P van Den Berg; A V Postma; M B Rook; J W Viersma; I M van Langen; G Tan-Sindhunata; M T Bink-Boelkens; A H van Der Hout; M M Mannens; A A Wilde
Journal:  Circ Res       Date:  1999 Dec 3-17       Impact factor: 17.367

Review 2.  Genetics of cardiac arrhythmias.

Authors:  Arthur A M Wilde; Connie R Bezzina
Journal:  Heart       Date:  2005-10       Impact factor: 5.994

Review 3.  Cardiomyopathies: from genetics to the prospect of treatment.

Authors:  W M Franz; O J Müller; H A Katus
Journal:  Lancet       Date:  2001-11-10       Impact factor: 79.321

4.  A sodium-channel mutation causes isolated cardiac conduction disease.

Authors:  H L Tan; M T Bink-Boelkens; C R Bezzina; P C Viswanathan; G C Beaufort-Krol; P J van Tintelen; M P van den Berg; A A Wilde; J R Balser
Journal:  Nature       Date:  2001-02-22       Impact factor: 49.962

5.  Plakophilin-2 mutations are the major determinant of familial arrhythmogenic right ventricular dysplasia/cardiomyopathy.

Authors:  J Peter van Tintelen; Mark M Entius; Zahurul A Bhuiyan; Roselie Jongbloed; Ans C P Wiesfeld; Arthur A M Wilde; Jasper van der Smagt; Ludolf G Boven; Marcel M A M Mannens; Irene M van Langen; Robert M W Hofstra; Luuk C Otterspoor; Pieter A F M Doevendans; Luz-Maria Rodriguez; Isabelle C van Gelder; Richard N W Hauer
Journal:  Circulation       Date:  2006-03-27       Impact factor: 29.690

6.  Report of the 1995 World Health Organization/International Society and Federation of Cardiology Task Force on the Definition and Classification of cardiomyopathies.

Authors:  P Richardson; W McKenna; M Bristow; B Maisch; B Mautner; J O'Connell; E Olsen; G Thiene; J Goodwin; I Gyarfas; I Martin; P Nordet
Journal:  Circulation       Date:  1996-03-01       Impact factor: 29.690

7.  CONCOR, an initiative towards a national registry and DNA-bank of patients with congenital heart disease in the Netherlands: rationale, design, and first results.

Authors:  E T van der Velde; Velde E T Vander; J W J Vriend; M M A M Mannens; C S P M Uiterwaal; R Brand; Barbara J M Mulder
Journal:  Eur J Epidemiol       Date:  2005       Impact factor: 8.082

8.  Meta-analysis of clinical characteristics of 299 carriers of LMNA gene mutations: do lamin A/C mutations portend a high risk of sudden death?

Authors:  Jop H van Berlo; Willem G de Voogt; Anneke J van der Kooi; J Peter van Tintelen; Gisèle Bonne; Rabah Ben Yaou; Denis Duboc; Tom Rossenbacker; Hein Heidbüchel; Marianne de Visser; Harry J G M Crijns; Yigal M Pinto
Journal:  J Mol Med (Berl)       Date:  2004-11-13       Impact factor: 4.599

9.  The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

Authors:  Marielle Alders; Roselie Jongbloed; Wout Deelen; Arthur van den Wijngaard; Pieter Doevendans; Folkert Ten Cate; Vera Regitz-Zagrosek; Hans Peter Vosberg; Irene van Langen; Arthur Wilde; Dennis Dooijes; Marcel Mannens
Journal:  Eur Heart J       Date:  2003-10       Impact factor: 29.983

  9 in total
  2 in total

1.  Recurrent and founder mutations in inherited cardiac diseases in the Netherlands.

Authors:  J P van Tintelen; A A M Wilde; J D H Jongbloed
Journal:  Neth Heart J       Date:  2009-11       Impact factor: 2.380

2.  ESCAPE-HCM study: Evaluation of SCreening of Asymptomatic PatiEnts with Hypertrophic CardioMyopathy.

Authors:  I Christiaans; L M Dijksman; E Birnie
Journal:  Neth Heart J       Date:  2007       Impact factor: 2.380

  2 in total

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