Characterization of Left Ventricular Non-Compaction Cardiomyopathy.
cardiac magnetic resonance
genetics
left ventricle non-compaction cardiomyopathy
non-ischemic cardiomyopathy
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
05 Aug 2020
05 Aug 2020
Historique:
received:
15
06
2020
revised:
22
07
2020
accepted:
03
08
2020
entrez:
9
8
2020
pubmed:
9
8
2020
medline:
9
8
2020
Statut:
epublish
Résumé
Left ventricle non-compaction cardiomyopathy (LVNC) has gained great interest in recent years, being one of the most controversial cardiomyopathies. There are several open debates, not only about its genetic heterogeneity, or about the possibility to be an acquired cardiomyopathy, but also about its possible overdiagnosis based on imaging techniques. In order to better understand this entity, we identified 38 LVNC patients diagnosed by cardiac MRI (CMRI) or anatomopathological study that could underwent NGS-sequencing and clinical study. Anatomopathological exam was performed in eight available LVNC hearts. The genetic yield was 34.2%. Patients with negative genetic testing had better left ventricular ejection fraction (LVEF) or it showed a tendency to improve in follow-up, and a possible trigger factor for LVNC was identified in 1/3 of them. Nonetheless, cerebrovascular accidents occurred in similar proportions in both groups. We conclude that in LVNC there seem to be different ways to achieve the same final phenotype. Genetic testing has a good genetic yield and provides valuable information. LVNC without an underlying genetic cause may have a better prognosis in terms of LVEF evolution. However, anticoagulation to prevent cerebrovascular accident (CVA) should be carefully evaluated in all patients. Larger series with pathologic examination are needed to help better understand this entity.
Identifiants
pubmed: 32764337
pii: jcm9082524
doi: 10.3390/jcm9082524
pmc: PMC7464545
pii:
doi:
Types de publication
Journal Article
Langues
eng
Références
Hum Pathol. 2005 Apr;36(4):403-11
pubmed: 15892002
Int J Cardiol. 2013 May 25;165(3):463-7
pubmed: 21944384
Circulation. 2006 Apr 11;113(14):1807-16
pubmed: 16567565
Genet Med. 2017 Feb;19(2):192-203
pubmed: 27532257
Circulation. 1990 Aug;82(2):507-13
pubmed: 2372897
Circ J. 2014;78(12):2963-71
pubmed: 25342278
Cardiology. 2002;98(3):162-4
pubmed: 12417817
Circulation. 2012 Oct 16;126(16):e240-3
pubmed: 23071178
Am J Cardiol. 1984 Jun 1;53(11):1733-4
pubmed: 6731322
J Am Coll Cardiol. 1999 Jul;34(1):233-40
pubmed: 10400016
Cardiovasc Pathol. 2016 Jul-Aug;25(4):293-299
pubmed: 27135206
Int J Cardiol. 2015;190:26-8
pubmed: 25912113
Nat Rev Cardiol. 2016 Nov;13(11):651-675
pubmed: 27681577
J Cardiovasc Ultrasound. 2014 Dec;22(4):165-72
pubmed: 25580189
Am J Cardiol. 1987 Apr 15;59(9):932-6
pubmed: 3565281
Nature. 2012 Apr 25;484(7395):479-84
pubmed: 22538609
Circ Cardiovasc Genet. 2011 Aug 1;4(4):367-74
pubmed: 21551322
Heart. 2000 Nov;84(5):476-82
pubmed: 11040002
J Am Coll Cardiol. 2014 Oct 28;64(17):1840-50
pubmed: 25443708
Circulation. 1996 Mar 1;93(5):841-2
pubmed: 8598070
Eur Heart J. 2017 Dec 7;38(46):3449-3460
pubmed: 29029073
Circulation. 2008 Jun 3;117(22):2893-901
pubmed: 18506004
Eur Heart J. 2020 Apr 7;41(14):1437-1438
pubmed: 31162535
J Am Coll Cardiol. 2005 Jul 5;46(1):101-5
pubmed: 15992642
Eur J Heart Fail. 2011 Feb;13(2):177-85
pubmed: 21193437
Am J Med Genet. 1997 Oct 31;72(3):257-65
pubmed: 9332651
ScientificWorldJournal. 2006 Apr 25;6:1862-80
pubmed: 17205193
Int J Cardiol. 2013 Sep 30;168(2):1658-60
pubmed: 23582434
Eur Heart J. 2008 Jan;29(2):270-6
pubmed: 17916581
Circ Cardiovasc Genet. 2010 Jun;3(3):232-9
pubmed: 20530761
Korean J Radiol. 2014 Nov-Dec;15(6):659-88
pubmed: 25469078
J Am Coll Cardiol. 2000 Aug;36(2):493-500
pubmed: 10933363
Eur Heart J. 2020 Apr 7;41(14):1428-1436
pubmed: 31143950
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Histopathology. 2004 May;44(5):412-27
pubmed: 15139989
Dev Dyn. 2011 Jun;240(6):1322-34
pubmed: 21538685
Nat Rev Cardiol. 2017 Apr;14(4):224-237
pubmed: 28079110
Eur Heart J. 2008 Jan;29(1):89-95
pubmed: 17993472
Europace. 2014 Dec;16(12):1864
pubmed: 24728420
J Am Coll Cardiol. 2018 Feb 20;71(7):711-722
pubmed: 29447731
Cardiology. 2002;98(1-2):25-32
pubmed: 12373044
Heart. 2001 Dec;86(6):666-71
pubmed: 11711464
Eur Heart J. 2014 Oct 14;35(39):2733-79
pubmed: 25173338
J Am Heart Assoc. 2017 Aug 30;6(9):
pubmed: 28855170
Circ Cardiovasc Genet. 2017 Dec;10(6):
pubmed: 29212898
Circ Cardiovasc Genet. 2017 Apr;10(2):
pubmed: 28356264
Mayo Clin Proc. 1997 Jan;72(1):26-31
pubmed: 9005281
Circulation. 2004 Jun 22;109(24):2965-71
pubmed: 15210614
Circulation. 2014 Aug 5;130(6):475-83
pubmed: 25006201
N Engl J Med. 1999 Mar 25;340(12):966-7
pubmed: 10094647
Proc Natl Acad Sci U S A. 2016 Oct 18;113(42):11901-11906
pubmed: 27702888
J Am Coll Cardiol. 2002 Feb 6;39(3):450-4
pubmed: 11823083
Tex Heart Inst J. 2015 Jun 01;42(3):301-2
pubmed: 26175656
J Heart Lung Transplant. 2005 Jun;24(6):781-6
pubmed: 15949742
Development. 2010 Nov;137(22):3867-75
pubmed: 20978078
Eur Heart J. 2019 Oct 7;40(38):3206
pubmed: 31364715
Int J Cardiol. 2013 Nov 15;169(4):249-53
pubmed: 24182672
Nat Genet. 2016 Dec;48(12):1581-1586
pubmed: 27776117
Heart. 2013 Mar;99(6):401-8
pubmed: 23393084
Histol Histopathol. 2010 Apr;25(4):495-503
pubmed: 20183802
Circulation. 2003 Nov 25;108(21):2672-8
pubmed: 14623814