Genetic Testing and Counselling in Hypertrophic Cardiomyopathy: Frequently Asked Questions.
cascade testing
genetic counselling
genetic testing
hypertrophic cardiomyopathy
multidisciplinary team
next-generation sequencing
Journal
Journal of clinical medicine
ISSN: 2077-0383
Titre abrégé: J Clin Med
Pays: Switzerland
ID NLM: 101606588
Informations de publication
Date de publication:
24 Mar 2023
24 Mar 2023
Historique:
received:
12
02
2023
revised:
13
03
2023
accepted:
24
03
2023
medline:
14
4
2023
entrez:
13
4
2023
pubmed:
14
4
2023
Statut:
epublish
Résumé
Genetic counselling and genetic testing in hypertrophic cardiomyopathy (HCM) represent an integral part of the diagnostic algorithm to confirm the diagnosis, distinguish it from phenocopies, and suggest tailored therapeutic intervention strategies. Additionally, they enable cascade genetic testing in the family. With the implementation of Next Generation Sequencing technologies (NGS), the interpretation of genetic data has become more complex. In this regard, cardiologists play a central role, aiding geneticists to correctly evaluate the pathogenicity of the identified genetic alterations. In the ideal setting, geneticists and cardiologists must work side by side to diagnose HCM as well as convey the correct information to patients in response to their many questions and concerns. After a brief overview of the role of genetics in the diagnosis of HCM, we present and discuss the frequently asked questions by HCM patients throughout our 20-year genetic counselling experience. Appropriate communication between the team and the families is key to the goal of delivering the full potential of genetic testing to our patients.
Identifiants
pubmed: 37048573
pii: jcm12072489
doi: 10.3390/jcm12072489
pmc: PMC10095452
pii:
doi:
Types de publication
Journal Article
Langues
eng
Références
Cardiol Clin. 2019 Feb;37(1):35-43
pubmed: 30447714
Mayo Clin Proc. 2008 Jun;83(6):630-8
pubmed: 18533079
Mol Genet Metab. 2017 Jun;121(2):157-161
pubmed: 28495078
Genet Med. 2019 Feb;21(2):284-292
pubmed: 29875424
Circ Genom Precis Med. 2019 Feb;12(2):e002460
pubmed: 30681346
Genet Med. 2018 Sep;20(9):899-909
pubmed: 29904160
Eur Heart J. 2014 Oct 14;35(39):2733-79
pubmed: 25173338
Eur Heart J. 2022 May 21;43(20):1901-1916
pubmed: 35089333
JACC Basic Transl Sci. 2021 Dec 01;7(1):70-83
pubmed: 35128211
Genet Med. 2015 Nov;17(11):880-8
pubmed: 25611685
Lancet. 2020 Sep 12;396(10253):759-769
pubmed: 32871100
Circulation. 1964 Nov;30:SUPPL 4:3-119
pubmed: 14227306
J Cardiovasc Med (Hagerstown). 2018 Jan;19(1):1-11
pubmed: 29176389
Circulation. 2019 Feb 5;139(6):830-833
pubmed: 30715937
J Mol Cell Cardiol. 2020 Jul;144:119-126
pubmed: 32470469
J Am Coll Cardiol. 2022 Sep 27;80(13):1268-1283
pubmed: 36075839
J Am Coll Cardiol. 2012 Aug 21;60(8):705-15
pubmed: 22796258
Eur J Heart Fail. 2018 Oct;20(10):1417-1425
pubmed: 30070416
Am J Cardiol. 2003 Dec 1;92(11):1358-62
pubmed: 14636924
J Med Genet. 2002 Oct;39(10):741-6
pubmed: 12362031
BMC Med Genet. 2018 Jan 3;19(1):1
pubmed: 29298659
Genet Med. 2017 Feb;19(2):192-203
pubmed: 27532257
Circulation. 2019 Jul 16;140(3):193-195
pubmed: 31306063
JAMA. 2009 Mar 25;301(12):1253-9
pubmed: 19318653
N Engl J Med. 1989 Nov 16;321(20):1372-8
pubmed: 2811944
Lancet. 2013 Jan 19;381(9862):242-55
pubmed: 22874472
J Genet Couns. 2022 Dec;31(6):1290-1305
pubmed: 35799446
G Ital Cardiol (Rome). 2020 Dec;21(12):926-934
pubmed: 33231212
Genet Med. 2015 May;17(5):405-24
pubmed: 25741868
Cardiovasc Res. 2015 Apr 1;105(4):397-408
pubmed: 25634555
J Am Coll Cardiol. 2010 Apr 6;55(14):1444-53
pubmed: 20359594
G Ital Cardiol (Rome). 2022 Jul;23(7):505-515
pubmed: 35771016
G Ital Cardiol (Rome). 2009 Apr;10(4):266
pubmed: 19475884
Circulation. 2018 Oct 2;138(14):1387-1398
pubmed: 30297972
J Am Coll Cardiol. 2022 Feb 1;79(4):390-414
pubmed: 35086661
Eur Heart J. 2019 Dec 1;40(45):3682-3684
pubmed: 31289813
J Am Coll Cardiol. 2020 Dec 22;76(25):3022-3055
pubmed: 33229115
Circ Res. 2011 Mar 18;108(6):743-50
pubmed: 21415408
Arch Cardiovasc Dis. 2022 Oct;115(10):529-537
pubmed: 36089496
J Cardiovasc Transl Res. 2009 Dec;2(4):493-9
pubmed: 20560007
J Am Coll Cardiol. 2020 Aug 4;76(5):560-562
pubmed: 32731934
Europace. 2022 Sep 1;24(8):1307-1367
pubmed: 35373836
Glob Cardiol Sci Pract. 2012 Jul 04;2012(1):6
pubmed: 25610837