Abstract
Hypertrophic cardiomyopathy is a common autosomal dominant disease, associated with heart failure and arrhythmias predisposing to sudden cardiac death. After the detection of the causal mutation in the proband predictive DNA testing of relatives is possible (cascade screening). Prevention of sudden cardiac death in patients with a high risk by means of an implantable cardioverter defibrillator is effective. In 97 hypertrophic cardiomyopathy families with a sarcomere gene mutation we retrospectively determined uptake of genetic counselling and predictive DNA testing in relatives within 1 year after the detection of the causal mutation in the proband. Uptake of genetic counselling was 39% and did not differ significantly by proband's or relative's gender, nor by young age of the relative (<18 years) or a family history positive for sudden cardiac death. In second-degree relatives, eligible for predictive DNA testing when the first-degree relative had died, uptake was 27.5% (P=0.047). Uptake of predictive genetic testing was 39%; conditional uptake of predictive genetic testing was 99%. Uptake of genetic counselling in hypertrophic cardiomyopathy is comparable to uptake in oncogenetics. Conditional uptake of predictive DNA testing, however, is much higher. Because sudden cardiac death can be prevented uptake of genetic counselling in hypertrophic cardiomyopathy should be as high as possible. To achieve this research into the determinants of uptake is needed.
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Acknowledgements
Clinical data of the HCM families in this study are lodged in the GENCOR database (www.gencor.nl), a national database for familial heart diseases, supported by the Interuniversity Cardiology Institute of the Netherlands. This research is financially supported by ZorgOnderzoek Nederland (ZonMw), grant number 62000010. The funding organisation has had no involvement in study design, collection, analysis and interpretation of data; in the writing of this paper and in the decision to submit the paper for publication. There are no actual or potential conflicts of interest for all authors.
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Christiaans, I., Birnie, E., Bonsel, G. et al. Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy. Eur J Hum Genet 16, 1201–1207 (2008). https://doi.org/10.1038/ejhg.2008.92
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DOI: https://doi.org/10.1038/ejhg.2008.92
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