Display options
Cite
Sweet M, Taylor MR, Mestroni L. Diagnosis, prevalence, and screening of familial dilated cardiomyopathy. Expert Opin Orphan Drugs. 2015;3(8):869-876doi: 10.1517/21678707.2015.1057498.
Sweet, M., Taylor, M. R., & Mestroni, L. (2015). Diagnosis, prevalence, and screening of familial dilated cardiomyopathy. Expert opinion on orphan drugs, 3(8), 869-876. https://doi.org/10.1517/21678707.2015.1057498
Sweet, Mary, et al. "Diagnosis, prevalence, and screening of familial dilated cardiomyopathy." Expert opinion on orphan drugs vol. 3,8 (2015): 869-876. doi: https://doi.org/10.1517/21678707.2015.1057498
Sweet M, Taylor MR, Mestroni L. Diagnosis, prevalence, and screening of familial dilated cardiomyopathy. Expert Opin Orphan Drugs. 2015;3(8):869-876. doi: 10.1517/21678707.2015.1057498. Epub 2015 Jun 22. PMID: 27547593; PMCID: PMC4988677.
Copy Download .nbib Format: NLM
Share it on

Expert Opin Orphan Drugs. 2015;3(8):869-876. doi: 10.1517/21678707.2015.1057498. Epub 2015 Jun 22.

Diagnosis, prevalence, and screening of familial dilated cardiomyopathy.

Expert opinion on orphan drugs

Mary Sweet, Matthew R G Taylor, Luisa Mestroni

Affiliations

  1. Cardiovascular Institute and Adult Medical Genetics, University of Colorado Denver, Denver, Colorado, USA; Human Medical Genetics and Genomics Program, University of Colorado Denver, Denver, Colorado, USA.
  2. Cardiovascular Institute and Adult Medical Genetics, University of Colorado Denver, Denver, Colorado, USA.

PMID: 27547593 PMCID: PMC4988677 DOI: 10.1517/21678707.2015.1057498

Abstract

INTRODUCTION: Dilated cardiomyopathy (DCM) is the most common cardiomyopathy and occurs often in families. As an inherited disease, understanding the significance of diagnostic procedures and genetic screening within families is of utmost importance.

AREAS COVERED: Genetic studies have shown that in 30-40% of familial DCM (FDC) cases a causative genetic mutation can be identified. Successful genetic analysis is highly dependent on close examination of patient and family history, and clinical guidelines exist recommending genetic testing to aid in the evaluation of family members at risk of developing FDC. Clinical genetic testing offers a resource for families to identify the etiology of their disease, and in some cases may provide clinical prognostic insight.

EXPERT OPINION: As an inherited disease, future FCD studies will focus on elucidating the remaining 60-70% of genetic causes in inherited cases and the pathogenic mechanisms leading to the phenotype. Specifically, a focus on regulatory regions, copy number variation, genetic and environmental modifiers and functional confirmatory investigations will be essential.

References

  1. J Card Fail. 2009 Mar;15(2):83-97 - PubMed
  2. N Engl J Med. 1992 Jan 9;326(2):77-82 - PubMed
  3. Circulation. 2006 Apr 11;113(14):1807-16 - PubMed
  4. Circulation. 1989 Sep;80(3):564-72 - PubMed
  5. Eur Heart J. 1997 Jan;18(1):117-23 - PubMed
  6. Eur Heart J. 1999 Jan;20(2):93-102 - PubMed
  7. Discov Med. 2013 Jan;15(80):43-9 - PubMed
  8. J Am Coll Cardiol. 2005 Apr 5;45(7):969-81 - PubMed
  9. Heart. 2002 Feb;87(2):126-30 - PubMed
  10. Eur J Heart Fail. 2010 Sep;12(9):922-7 - PubMed
  11. Nat Rev Cardiol. 2013 Sep;10(9):531-47 - PubMed
  12. Orphanet J Rare Dis. 2006 Jul 13;1:27 - PubMed
  13. J Am Coll Cardiol. 1998 Jan;31(1):186-94 - PubMed
  14. J Mol Diagn. 2013 Mar;15(2):158-70 - PubMed
  15. Rev Esp Cardiol. 2002 Jul;55(7):725-32 - PubMed
  16. N Engl J Med. 2012 Feb 16;366(7):619-28 - PubMed
  17. Curr Opin Cardiol. 2011 Mar;26(2):155-64 - PubMed
  18. Pacing Clin Electrophysiol. 2008 Mar;31(3):290-9 - PubMed
  19. Am J Cardiol. 1992 Jun 1;69(17):1458-66 - PubMed
  20. Am J Cardiol. 2011 Oct 15;108(8):1171-6 - PubMed
  21. J Am Coll Cardiol. 2012 Jan 31;59(5):493-500 - PubMed
  22. Congest Heart Fail. 2008 Jan-Feb;14(1):37-45 - PubMed
  23. Eur J Heart Fail. 2015 May;17(5):484-93 - PubMed
  24. N Engl J Med. 2006 Jan 12;354(2):209-10 - PubMed
  25. Circulation. 1995 Aug 15;92 (4):785-9 - PubMed
  26. Heart Lung Circ. 2011 Nov;20(11):691-3 - PubMed
  27. J Am Coll Cardiol. 2011 Apr 19;57(16):1641-9 - PubMed
  28. Heart Lung Circ. 2011 Nov;20(11):681-7 - PubMed
  29. Ann Med. 2007;39(2):91-107 - PubMed
  30. Circulation. 2015 Jan 27;131(4):e29-322 - PubMed
  31. J Am Coll Cardiol. 2011 May 24;57(21):2160-8 - PubMed
  32. Eur Heart J. 2012 Feb;33(3):296-304 - PubMed
  33. Curr Opin Cardiol. 2013 May;28(3):317-25 - PubMed
  34. Eur Heart J Cardiovasc Imaging. 2015 Mar;16(3):307-15 - PubMed
  35. Br Heart J. 1985 Aug;54(2):153-5 - PubMed
  36. Ann Intern Med. 2005 Jul 19;143(2):108-15 - PubMed
  37. Glob Cardiol Sci Pract. 2012 Aug 27;2012(1):8 - PubMed
  38. Circ Cardiovasc Genet. 2011 Aug 1;4(4):342-8 - PubMed
  39. J Clin Invest. 2013 Jan;123(1):19-26 - PubMed
  40. J Am Coll Cardiol. 1999 Jul;34(1):181-90 - PubMed

Publication Types

Grant support