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Orphanou N, Papatheodorou E, Anastasakis A. Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments. Heart Fail Rev. 2021;doi: 10.1007/s10741-021-10139-0.
Orphanou, N., Papatheodorou, E., & Anastasakis, A. (2021). Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments. Heart failure reviews, . https://doi.org/10.1007/s10741-021-10139-0
Orphanou, Nicoletta, et al. "Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments." Heart failure reviews vol. (2021). doi: https://doi.org/10.1007/s10741-021-10139-0
Orphanou N, Papatheodorou E, Anastasakis A. Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments. Heart Fail Rev. 2021 Jul 14; doi: 10.1007/s10741-021-10139-0. Epub 2021 Jul 14. PMID: 34263412; PMCID: PMC8279384.
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Heart Fail Rev. 2021 Jul 14; doi: 10.1007/s10741-021-10139-0. Epub 2021 Jul 14.

Dilated cardiomyopathy in the era of precision medicine: latest concepts and developments.

Heart failure reviews

Nicoletta Orphanou, Efstathios Papatheodorou, Aris Anastasakis

Affiliations

  1. Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Athens, Greece. [email protected].
  2. Cardiology Department, Athens General Hospital "G. Gennimatas", Athens, Greece. [email protected].
  3. Unit of Inherited and Rare Cardiovascular Diseases, Onassis Cardiac Surgery Center, Athens, Greece.

PMID: 34263412 PMCID: PMC8279384 DOI: 10.1007/s10741-021-10139-0

Abstract

Dilated cardiomyopathy (DCM) is an umbrella term entailing a wide variety of genetic and non-genetic etiologies, leading to left ventricular systolic dysfunction and dilatation, not explained by abnormal loading conditions or coronary artery disease. The clinical presentation can vary from asymptomatic to heart failure symptoms or sudden cardiac death (SCD) even in previously asymptomatic individuals. In the last 2 decades, there has been striking progress in the understanding of the complex genetic basis of DCM, with the discovery of additional genes and genotype-phenotype correlation studies. Rigorous clinical work-up of DCM patients, meticulous family screening, and the implementation of advanced imaging techniques pave the way for a more efficient and earlier diagnosis as well as more precise indications for implantable cardioverter defibrillator implantation and prevention of SCD. In the era of precision medicine, genotype-directed therapies have started to emerge. In this review, we focus on updates of the genetic background of DCM, characteristic phenotypes caused by recently described pathogenic variants, specific indications for prevention of SCD in those individuals and genotype-directed treatments under development. Finally, the latest developments in distinguishing athletic heart syndrome from subclinical DCM are described.

© 2021. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.

Keywords: ARVC; Athletic heart syndrome; BAG3; Cardiomyopathies; DCM; DSP; Dilated cardiomyopathy; FLNC; Heart failure; Hypokinetic non-dilated cardiomyopathy; Inherited cardiac diseases; LMNA; Molecular cardiology; PLN; Precision medicine; TMEM43

References

  1. Circ Cardiovasc Imaging. 2013 Sep;6(5):790-9 - PubMed
  2. J Am Coll Cardiol. 2014 May 13;63(18):1879-89 - PubMed
  3. Clin Transl Sci. 2016 Jun;9(3):158-67 - PubMed
  4. Circ Res. 2017 Sep 29;121(8):923-929 - PubMed
  5. J Am Coll Cardiol. 2011 May 24;57(21):2160-8 - PubMed
  6. Am J Hum Genet. 2011 Mar 11;88(3):273-82 - PubMed
  7. Europace. 2014 Oct;16(10):1450-9 - PubMed
  8. Eur J Heart Fail. 2013 Apr;15(4):376-84 - PubMed
  9. J Am Heart Assoc. 2016 Jun 30;5(7): - PubMed
  10. N Engl J Med. 1999 Dec 2;341(23):1715-24 - PubMed
  11. J Med Genet. 2014 Oct;51(10):669-76 - PubMed
  12. Int J Cardiol. 2018 Apr 15;257:366-370 - PubMed
  13. Clin Transl Sci. 2008 May;1(1):21-6 - PubMed
  14. Int J Cardiol. 2016 Jan 15;203:1114-21 - PubMed
  15. N Engl J Med. 2006 Jan 12;354(2):209-10 - PubMed
  16. J Am Coll Cardiol. 2019 Dec 10;74(23):2921-2938 - PubMed
  17. Nat Rev Genet. 2011 May;12(5):357-62 - PubMed
  18. Am J Epidemiol. 1990 Jan;131(1):48-56 - PubMed
  19. J Am Coll Cardiol. 2019 Sep 17;74(11):1480-1490 - PubMed
  20. Hum Mol Genet. 2012 Oct 1;21(19):4325-33 - PubMed
  21. N Engl J Med. 2000 Dec 7;343(23):1688-96 - PubMed
  22. J Am Coll Cardiol. 1999 Jul;34(1):181-90 - PubMed
  23. N Engl J Med. 2006 Jul 13;355(2):138-47 - PubMed
  24. Am J Cardiol. 2012 Mar 1;109(5):729-35 - PubMed
  25. J Am Coll Cardiol. 2018 Nov 13;72(20):2471-2481 - PubMed
  26. JAMA Cardiol. 2020 Nov 1;5(11):1265-1273 - PubMed
  27. Circ Heart Fail. 2014 May;7(3):448-56 - PubMed
  28. J Am Coll Cardiol. 2014 Jul 22;64(3):304-18 - PubMed
  29. Sci Transl Med. 2012 Apr 18;4(130):130ra47 - PubMed
  30. Hellenic J Cardiol. 2018 Sep - Oct;59(5):254-261 - PubMed
  31. Eur J Med Genet. 2011 Nov-Dec;54(6):e570-5 - PubMed
  32. Circulation. 2006 Apr 11;113(14):1807-16 - PubMed
  33. Heart. 2017 Nov;103(21):1704-1710 - PubMed
  34. J Am Coll Cardiol. 2003 Dec 3;42(11):2014-27 - PubMed
  35. J Am Coll Cardiol. 1993 Sep;22(3):808-15 - PubMed
  36. J Am Coll Cardiol. 2003 Mar 5;41(5):771-80 - PubMed
  37. BMC Med Genet. 2018 Jun 5;19(1):94 - PubMed
  38. Circulation. 1999 Aug 3;100(5):461-4 - PubMed
  39. Circulation. 1980 Nov;62(5):1054-61 - PubMed
  40. Europace. 2014 Dec;16(12):1838-46 - PubMed
  41. J Am Coll Cardiol. 2018 Mar 20;71(11):1204-1214 - PubMed
  42. Heart. 2011 Oct;97(20):1675-80 - PubMed
  43. Circ Heart Fail. 2018 Nov;11(11):e005220 - PubMed
  44. Circulation. 1996 Dec 15;94(12):3168-75 - PubMed
  45. Genome Biol. 2014 Dec 03;15(12):534 - PubMed
  46. Sci Transl Med. 2015 Jan 14;7(270):270ra6 - PubMed
  47. Hum Mol Genet. 2013 Apr 1;22(7):1395-403 - PubMed
  48. JAMA. 2020 Apr 28;323(16):1612-1614 - PubMed
  49. J Am Coll Cardiol. 1997 Nov 15;30(6):1500-5 - PubMed
  50. J Am Coll Cardiol. 2012 Oct 16;60(16):1566-73 - PubMed
  51. Nat Rev Cardiol. 2013 Sep;10(9):531-47 - PubMed
  52. Herz. 2000 May;25(3):156-60 - PubMed
  53. Circ Heart Fail. 2020 Oct;13(10):e006701 - PubMed
  54. JACC Cardiovasc Imaging. 2018 Oct;11(10):1419-1429 - PubMed
  55. Eur Heart J. 2008 Jan;29(2):270-6 - PubMed
  56. Circulation. 2005 Aug 2;112(5):636-42 - PubMed
  57. J Card Fail. 2018 May;24(5):281-302 - PubMed
  58. J Clin Invest. 2003 Mar;111(6):869-76 - PubMed
  59. Heart Rhythm. 2018 Oct;15(10):e73-e189 - PubMed
  60. J Am Heart Assoc. 2015 Jan 13;4(1):e001504 - PubMed
  61. Am Heart J. 2007 Dec;154(6):1130-9 - PubMed
  62. J Am Coll Cardiol. 2008 Oct 28;52(18):1458-65 - PubMed
  63. Circ Cardiovasc Genet. 2015 Aug;8(4):544-52 - PubMed
  64. JACC Heart Fail. 2017 Jan;5(1):28-38 - PubMed
  65. Eur J Heart Fail. 2010 Dec;12(12):1297-9 - PubMed
  66. J Am Coll Cardiol. 2009 Sep 1;54(10):930-41 - PubMed
  67. JAMA. 1996 May 1;275(17):1335-8 - PubMed
  68. Nat Genet. 2002 Feb;30(2):201-4 - PubMed
  69. Pacing Clin Electrophysiol. 2015 Nov;38(11):1287-96 - PubMed
  70. Europace. 2019 Feb 1;21(2):332-338 - PubMed
  71. Circulation. 2019 Apr 9;139(15):1786-1797 - PubMed
  72. Circulation. 2005 Feb 22;111(7):887-93 - PubMed
  73. J Am Coll Cardiol. 2016 Dec 6;68(22):2440-2451 - PubMed
  74. J Mol Cell Cardiol. 2001 Apr;33(4):723-32 - PubMed
  75. N Engl J Med. 1992 Jan 9;326(2):77-82 - PubMed
  76. Nat Commun. 2015 Apr 29;6:6955 - PubMed
  77. Genet Med. 2018 Mar;20(3):351-359 - PubMed
  78. Br J Sports Med. 2020 Jun;54(12):739-745 - PubMed
  79. Eur Heart J. 2018 Mar 7;39(10):864-873 - PubMed
  80. J Am Coll Cardiol. 2018 Aug 14;72(7):784-804 - PubMed
  81. Am Heart J. 2008 Jul;156(1):161-9 - PubMed
  82. Ann Intern Med. 2005 Jul 19;143(2):108-15 - PubMed
  83. Eur Heart J. 2012 Feb;33(3):296-304 - PubMed
  84. J Am Coll Cardiol. 2012 Jan 31;59(5):493-500 - PubMed
  85. JACC Clin Electrophysiol. 2016 Oct;2(5):535-543 - PubMed
  86. J Am Coll Cardiol. 2004 Nov 16;44(10):2033-40 - PubMed
  87. Europace. 2018 Mar 1;20(3):472-480 - PubMed
  88. Eur J Cardiovasc Prev Rehabil. 2006 Dec;13(6):876-85 - PubMed
  89. Eur Heart J. 1997 Jan;18(1):117-23 - PubMed
  90. J Am Coll Cardiol. 2012 Jul 10;60(2):144-56 - PubMed
  91. J Am Coll Cardiol. 2008 Oct 7;52(15):1250-60 - PubMed
  92. JAMA. 2005 Jan 26;293(4):447-54 - PubMed
  93. Biochem Biophys Res Commun. 2002 Oct 18;298(1):116-20 - PubMed
  94. Eur Heart J. 2010 Nov;31(22):2715-26 - PubMed
  95. Eur J Hum Genet. 2020 Jan;28(1):17-22 - PubMed
  96. Expert Opin Orphan Drugs. 2015;3(8):869-876 - PubMed
  97. Genet Med. 2015 May;17(5):405-24 - PubMed
  98. Eur Heart J. 2017 Sep 14;38(35):2671-2679 - PubMed
  99. Lancet. 1994 Sep 17;344(8925):773-7 - PubMed
  100. Eur Heart J. 2015 Nov 1;36(41):2793-2867 - PubMed
  101. Eur Heart J. 2020 Oct 14;41(39):3784-3786 - PubMed
  102. Cardiovasc Res. 2018 Dec 1;114(14):1828-1842 - PubMed
  103. JACC Cardiovasc Imaging. 2020 Feb;13(2 Pt 2):549-558 - PubMed
  104. J Am Coll Cardiol. 2011 Apr 19;57(16):1641-9 - PubMed
  105. Eur Heart J. 2015 Apr 7;36(14):847-55 - PubMed
  106. JACC Cardiovasc Imaging. 2016 Sep;9(9):1034-1042 - PubMed
  107. Am J Hum Genet. 2008 Apr;82(4):809-21 - PubMed
  108. J Am Coll Cardiol. 1998 Jan;31(1):186-94 - PubMed
  109. Circulation. 2003 Dec 9;108(23):2883-91 - PubMed
  110. Ann Neurol. 2009 Jan;65(1):83-9 - PubMed
  111. J Electrocardiol. 1994 Oct;27(4):323-8 - PubMed
  112. Eur J Heart Fail. 2020 Jul;22(7):1097-1107 - PubMed
  113. Eur Heart J. 2011 Dec;32(24):3147-97 - PubMed
  114. Eur Heart J. 2018 Apr 21;39(16):1466-1480 - PubMed
  115. Eur J Heart Fail. 2018 Feb;20(2):228-239 - PubMed
  116. N Engl J Med. 2016 Aug 18;375(7):655-65 - PubMed
  117. Heart Rhythm. 2009 Nov;6(11):1574-83 - PubMed
  118. Circulation. 2019 Jul 2;140(1):42-54 - PubMed
  119. Circulation. 2013 Oct 8;128(15):1623-33 - PubMed
  120. Hellenic J Cardiol. 2021 Mar-Apr;62(2):169-172 - PubMed
  121. J Am Coll Cardiol. 2018 Nov 6;72(19):2324-2338 - PubMed
  122. Circ Res. 2009 Aug 14;105(4):375-82 - PubMed
  123. Int J Mol Sci. 2020 Sep 04;21(18): - PubMed
  124. Circ Cardiovasc Genet. 2013 Apr;6(2):144-53 - PubMed
  125. Heart Rhythm. 2017 Jul;14(7):1024-1032 - PubMed
  126. Eur Heart J. 2015 Apr 7;36(14):872-81 - PubMed
  127. Heart. 2011 Nov;97(21):1744-52 - PubMed
  128. Cell Stem Cell. 2015 Jul 2;17(1):89-100 - PubMed
  129. Circ Cardiovasc Imaging. 2014 Mar;7(2):250-258 - PubMed
  130. Circ Genom Precis Med. 2019 Aug;12(8):e002491 - PubMed
  131. Eur J Heart Fail. 2013 Jun;15(6):628-36 - PubMed
  132. J Am Coll Cardiol. 2017 May 16;69(19):2466-2468 - PubMed
  133. J Cardiovasc Magn Reson. 2020 Feb 3;22(1):10 - PubMed
  134. Eur Heart J. 2018 May 21;39(20):1784-1793 - PubMed
  135. Int J Cardiol. 2012 May 17;157(1):43-7 - PubMed
  136. Circ Heart Fail. 2020 Oct;13(10):e006832 - PubMed
  137. J Am Coll Cardiol. 2020 Sep 8;76(10):1244-1258 - PubMed
  138. Neuromuscul Disord. 2010 Jul;20(7):438-42 - PubMed
  139. J Mol Med (Berl). 2005 Jan;83(1):79-83 - PubMed
  140. JCI Insight. 2017 Jul 20;2(14): - PubMed
  141. Curr Cardiol Rev. 2011 Nov;7(4):214-20 - PubMed
  142. Eur Heart J. 2016 Nov 14;37(43):3282-3284 - PubMed
  143. Am J Cardiol. 2015 Apr 15;115(8):1137-43 - PubMed
  144. Circulation. 2007 Jan 2;115(1):76-83 - PubMed
  145. Circ Cardiovasc Genet. 2014 Aug;7(4):455-65 - PubMed
  146. Curr Heart Fail Rep. 2010 Mar;7(1):9-14 - PubMed
  147. Eur J Heart Fail. 2019 Aug;21(8):955-964 - PubMed
  148. Hellenic J Cardiol. 2011 Jul-Aug;52(4):316-26 - PubMed
  149. J Card Fail. 2011 Oct;17(10):844-9 - PubMed
  150. Eur J Heart Fail. 2010 Aug;12(8):767-78 - PubMed
  151. J Cardiovasc Med (Hagerstown). 2019 Jul;20(7):450-458 - PubMed
  152. Am J Hum Genet. 2005 Aug;77(2):297-304 - PubMed
  153. Eur Heart J. 2015 May 7;36(18):1123-35a - PubMed
  154. Eur Heart J. 2019 Sep 14;40(35):2940-2949 - PubMed
  155. N Engl J Med. 2012 Feb 16;366(7):619-28 - PubMed
  156. Clin Med Res. 2010 Dec;8(3-4):142-9 - PubMed
  157. Nat Rev Cardiol. 2018 Apr;15(4):241-252 - PubMed
  158. Science. 2015 Aug 28;349(6251):982-6 - PubMed
  159. Eur Heart J. 2013 May;34(19):1448-58 - PubMed
  160. Circulation. 2018 Dec 4;138(23):2666-2681 - PubMed
  161. Circulation. 2016 Dec 6;134(23):e579-e646 - PubMed
  162. Heart. 2020 Jul;106(14):1059-1065 - PubMed
  163. Curr Pharm Des. 2013;19(33):5997-6008 - PubMed
  164. Heart Rhythm. 2019 Nov;16(11):e301-e372 - PubMed
  165. J Am Coll Cardiol. 2017 May 2;69(17):2134-2145 - PubMed
  166. Eur J Echocardiogr. 2009 Aug;10(6):733-7 - PubMed
  167. J Am Coll Cardiol. 2016 Nov 29;68(21):2299-2307 - PubMed
  168. Eur Heart J. 2013 Sep;34(33):2636-48, 2648a-2648d - PubMed
  169. Eur Heart J. 2003 Jul;24(13):1204-9 - PubMed
  170. J Am Coll Cardiol. 2011 Mar 29;57(13):1468-76 - PubMed
  171. Eur Heart J. 2016 Jun 14;37(23):1850-8 - PubMed
  172. JAMA. 2013 Mar 6;309(9):896-908 - PubMed
  173. Proc Natl Acad Sci U S A. 2016 Jan 12;113(2):338-43 - PubMed
  174. G Ital Cardiol. 1989 Nov;19(11):1074-9 - PubMed
  175. Clin Genet. 2013 Apr;83(4):321-31 - PubMed

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