alexa Uptake of genetic counselling and predictive DNA testing in hypertrophic cardiomyopathy.
Cardiology

Cardiology

Journal of Clinical & Experimental Cardiology

Author(s): Christiaans I, Birnie E, Bonsel GJ, Wilde AA, van Langen IM

Abstract Share this page

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. This article was published in Eur J Hum Genet and referenced in Journal of Clinical & Experimental Cardiology

Relevant Expert PPTs

Relevant Speaker PPTs

  • Donald silverberg
    Is correction of iron deficiency a new addition to the treatment of heart failure?
    PPT Version | PDF Version
  • Ahmed Zeidan
    Effects of intravenous iron in chronic kidney disease and heart failure
    PPT Version | PDF Version
  • Mapitsi S Thantsha
    In vitro antagonistic effects of Listeria adhesion protein (LAP)-expressing Lactobacillus casei against Listeria monocytogenes and Salmonella Typhimurium Copenhagen
    PPT Version | PDF Version
  • Mikael Bjerg Caspersen
    Innovative albumin based technology for half-life extension and optimization of Biotherapeutics
    PPT Version | PDF Version
  • Suzi Demirbag
    Indications and effectiveness of the open surgery in vesicoureteral refl ux
    PPT Version | PDF Version
  • Yosef Yarden
    Classically, the 3’untranslated region (3’UTR) is that region in eukaryotic protein-coding genes from the translation termination codon to the polyA signal. It is transcribed as an integral part of the mRNA encoded by the gene. However, there exists another kind of RNA, which consists of the 3’UTR alone, without all other elements in mRNA such as 5’UTR and coding region. The importance of independent 3’UTR RNA (referred as I3’UTR) was prompted by results of artificially introducing such RNA species into malignant mammalian cells. Since 1991, we found that the middle part of the 3’UTR of the human nuclear factor for interleukin-6 (NF-IL6) or C/EBP gene exerted tumor suppression effect in vivo. Our subsequent studies showed that transfection of C/EBP 3’UTR led to down-regulation of several genes favorable for malignancy and to up-regulation of some genes favorable for phenotypic reversion. Also, it was shown that the sequences near the termini of the C/EBP 3’UTR were important for its tumor suppression activity. Then, the C/EBP 3’UTR was found to directly inhibit the phosphorylation activity of protein kinase CPKC in SMMC-7721, a hepatocarcinoma cell line. Recently, an AU-rich region in the C/EBP 3’UTR was found also to be responsible for its tumor suppression. Recently we have also found evidence that the independent C/EBP 3’UTR RNA is actually exists in human tissues, such as fetal liver and heart, pregnant uterus, senescent fibroblasts etc. Through 1990’s to 2000’s, world scientists found several 3’UTR RNAs that functioned as artificial independent RNAs in cancer cells and resulted in tumor suppression. Interestingly, majority of genes for these RNAs have promoter-like structures in their 3’UTR regions, although the existence of their transcribed products as independent 3’UTR RNAs is still to be confirmed. Our studies indicate that the independent 3’UTR RNA is a novel non-coding RNA species whose function should be the regulation not of the expression of their original mRNA, but of some essential life activities of the cell as a whole.
    PPT Version | PDF Version
  • Alina Borowska
    Postoperative cognitive dysfunctions after cardiac operations
    PPT Version | PDF Version
  • Ana Domingo Rueda
    Collaborative programme in Pediatric Cardiac Surgery in Ethiopia: Nursery role
    PPT Version | PDF Version
  • Wenru Wang
    Effects of home-based cardiac rehabilitation programme for patients with acute myocardial infarction: A randomized controlled trail
    PPT Version | PDF Version
  • Cicek Senture
    Analyzing The Efficiencies Of Discharge Education For The Patients Who Had A Cardiac Surgery
    PPT Version | PDF Version
  • Placide Poba-Nzaou
    Open Source as an Alternative for Clinical Information Systems Adoption
    PPT Version | PDF Version
  • Barbara Ann M. Messina
    Opening the doors to the operating room: Part II a longitudinal study
    PPT Version | PDF Version
  • Katie Kok
    Patient education and anticoagulation therapy in a cardiac population
    PPT Version | PDF Version
  • Adriana Katz
    Na,K-ATPase isoform-selective cardiac glycosides- a potential anti-cancer drug ?
    PPT Version | PDF Version
  • Mauricio Laerte Silva
    Cardiac Diastolic Function in Pediatric AIDS/HIV-carriers: Assessment, Treatment and Prevention of Future Cardiovascular Diseases
    PPT Version | PDF Version

Recommended Conferences

Relevant Topics

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

 
© 2008-2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords