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7 results on '"Nieuwhof, Karin"'

1. Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

Author

Jansweijer, Joeri A., Nieuwhof, Karin, Russo, Francesco, Hoorntje, Edgar T., Jongbloed, Jan D. H., Lekanne Deprez, Ronald H., Postma, Alex V., Bronk, Marieke, van Rijsingen, Ingrid A. W., de Haij, Simone, Biagini, Elena, van Haelst, Paul L., van Wijngaarden, Jan, van den Berg, Maarten P., Wilde, Arthur A. M., Mannens, Marcel M. A. M., de Boer, Rudolf A., van Spaendonck-Zwarts, Karin Y., van Tintelen, J. Peter, Pinto, Yigal M., Cardiovascular Centre (CVC), Cardiology, ARD - Amsterdam Reproduction and Development, Other departments, Human Genetics, Medical Biology, ACS - Heart failure & arrhythmias, and ACS - Pulmonary hypertension & thrombosis

Subjects
TTN, Dilated cardiomyopathy, DEFINE, Prognosis, GUIDELINES, Gene, DISEASE, Treatment, Diagnosis, HEART-FAILURE, EXPERIENCE, MUSCLE FILAMENT TITIN, cardiovascular diseases, TASK-FORCE
Abstract

Aims Truncating titin mutations (tTTN) occur in 25% of dilated cardiomyopathy (DCM) cases, but the phenotype and severity of disease they cause have not yet been systematically studied. We studied whether tTTN variants are associated with a clinically distinguishable form of DCM. Methods and results We compared clinical data on DCM probands and relatives with a tTTN mutation (n = 45, n = 73), LMNA mutation (n = 28, n = 29), and probands who tested negative for both genes [idiopathic DCM (iDCM); n = 60]. Median follow-up was at least 2.5 years in each group. TTN subjects presented with DCM at higher age than LMNA subjects (probands 47.9 vs. 40.4 years, P = 0.004; relatives 59.8 vs. 47.0 years, P = 0.01), less often developed LVEF

Published
2017

3. Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy

Author

Jansweijer, Joeri A., primary, Nieuwhof, Karin, additional, Russo, Francesco, additional, Hoorntje, Edgar T., additional, Jongbloed, Jan D.H., additional, Lekanne Deprez, Ronald H., additional, Postma, Alex V., additional, Bronk, Marieke, additional, van Rijsingen, Ingrid A.W., additional, de Haij, Simone, additional, Biagini, Elena, additional, van Haelst, Paul L., additional, van Wijngaarden, Jan, additional, van den Berg, Maarten P., additional, Wilde, Arthur A.M., additional, Mannens, Marcel M.A.M., additional, de Boer, Rudolf A., additional, van Spaendonck-Zwarts, Karin Y., additional, van Tintelen, J. Peter, additional, and Pinto, Yigal M., additional

Published
2016
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5. Follow-up care by a genetic counsellor for relatives at risk for cardiomyopathies is cost-saving and well-appreciated: a randomised comparison

Author

Nieuwhof, Karin, Birnie, Erwin, van den Berg, Maarten P, de Boer, Rudolf A, van Haelst, Paul L, van Tintelen, J Peter, and van Langen, Irene M

Abstract

Increasing numbers of patient relatives at risk of developing dilated or hypertrophic cardiomyopathy (DCM/HCM) are being identified and followed up by cardiologists according to the ACC/ESC guidelines. However, given limited healthcare resources, good-quality low-cost alternative approaches are needed. Therefore, we have compared conventional follow-up by a cardiologist with that provided at a cardiogenetic clinic (CGC) led by a genetic counsellor. Phenotype-negative first-degree relatives at risk for DCM/HCM were randomly assigned to see either a cardiologist or to attend a CGC. Uptake and resource use were recorded. For 189 participants, we evaluated quality of care experienced, patient satisfaction and perceived personal control (PPC) using validated questionnaires and estimated the average cost difference of these two modes of care. Maximum patient satisfaction scores were achieved more frequently at the CGC (86% vs 45%, P<0.01). In terms of follow-up care provided, the genetic counsellor did not perform worse than the cardiologist (95% vs 59%, P<0.01). The genetic counsellor more often enquired about the relative-at risk’s health (100% vs 65%, P<0.01) and family health (97% vs 33%, P<0.01), measured blood pressure (98% vs 29%, P<0.01) and gave disease-specific information (77% vs 52%, P<0.01). Although PPC scores were equal in both groups, the average cost per patient of CGC follow-up was 25% lower. Follow-up of phenotype-negative relatives at risk for DCM/HCM at a CGC led to greater patient satisfaction and is well-appreciated at lower cost. CGC care is a good alternative to conventional cardiological follow-up for this growing group of patients.

Published
2017
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7. Truncating titin mutations are associated with a mild and treatable form of dilated cardiomyopathy.

Author

Jansweijer JA, Nieuwhof K, Russo F, Hoorntje ET, Jongbloed JD, Lekanne Deprez RH, Postma AV, Bronk M, van Rijsingen IA, de Haij S, Biagini E, van Haelst PL, van Wijngaarden J, van den Berg MP, Wilde AA, Mannens MM, de Boer RA, van Spaendonck-Zwarts KY, van Tintelen JP, and Pinto YM

Subjects
Adult, Aged, Arrhythmias, Cardiac, Cardiomyopathy, Dilated mortality, Cardiomyopathy, Dilated physiopathology, Cardiomyopathy, Dilated therapy, Case-Control Studies, Female, Follow-Up Studies, Genotype, Heart Failure genetics, Heart Failure mortality, Heart Failure physiopathology, Heart Failure therapy, Heart Transplantation, Heart-Assist Devices, Humans, Lamin Type A genetics, Male, Middle Aged, Mortality, Mutation, Phenotype, Prognosis, Proportional Hazards Models, Retrospective Studies, Severity of Illness Index, Stroke Volume, Cardiomyopathy, Dilated genetics, Connectin genetics
Abstract

Aims: Truncating titin mutations (tTTN) occur in 25% of dilated cardiomyopathy (DCM) cases, but the phenotype and severity of disease they cause have not yet been systematically studied. We studied whether tTTN variants are associated with a clinically distinguishable form of DCM., Methods and Results: We compared clinical data on DCM probands and relatives with a tTTN mutation (n = 45, n = 73), LMNA mutation (n = 28, n = 29), and probands who tested negative for both genes [idiopathic DCM (iDCM); n = 60]. Median follow-up was at least 2.5 years in each group. TTN subjects presented with DCM at higher age than LMNA subjects (probands 47.9 vs. 40.4 years, P = 0.004; relatives 59.8 vs. 47.0 years, P = 0.01), less often developed LVEF <35% [probands hazard ratio (HR) 0.38, P = 0.002], had higher age of death (probands 70.4 vs. 59.4 years, P < 0.001; relatives 74.1 vs. 58.4 years, P = 0.008), and had better composite outcome (malignant ventricular arrhythmia, heart transplantation, or death; probands HR 0.09, P < 0.001; relatives HR 0.21, P = 0.02) than LMNA subjects and iDCM subjects (HR 0.36, P = 0.07). An LVEF increase of at least 10% occurred in 46.9% of TTN subjects after initiation of standard heart failure treatment, while this only occurred in 6.5% of LMNA subjects (P < 0.001) and 18.5% of iDCM subjects (P = 0.02). This was confirmed in families with co-segregation, in which the 10% point LVEF increase occurred in 55.6% of subjects (P = 0.003 vs. LMNA, P = 0.079 vs. iDCM)., Conclusions: This study shows that tTTN-associated DCM is less severe at presentation and more amenable to standard therapy than LMNA mutation-induced DCM or iDCM., (© 2016 The Authors. European Journal of Heart Failure © 2016 European Society of Cardiology.)

Published
2017
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