Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes.
children
diagnosis
etiology
hypertrophic cardiomyopathy
treatment
Journal
Frontiers in pediatrics
ISSN: 2296-2360
Titre abrégé: Front Pediatr
Pays: Switzerland
ID NLM: 101615492
Informations de publication
Date de publication:
2021
2021
Historique:
received:
22
11
2020
accepted:
01
02
2021
entrez:
15
3
2021
pubmed:
16
3
2021
medline:
16
3
2021
Statut:
epublish
Résumé
Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by left ventricular hypertrophy not solely explained by abnormal loading conditions. Despite its rare prevalence in pediatric age, HCM carries a relevant risk of mortality and morbidity in both infants and children. Pediatric HCM is a large heterogeneous group of disorders. Other than mutations in sarcomeric genes, which represent the most important cause of HCM in adults, childhood HCM includes a high prevalence of non-sarcomeric causes, including inherited errors of metabolism (i.e., glycogen storage diseases, lysosomal storage diseases, and fatty acid oxidation disorders), malformation syndromes, neuromuscular diseases, and mitochondrial disease, which globally represent up to 35% of children with HCM. The age of presentation and the underlying etiology significantly impact the prognosis of children with HCM. Moreover, in recent years, different targeted approaches for non-sarcomeric etiologies of HCM have emerged. Therefore, the etiological diagnosis is a fundamental step in designing specific management and therapy in these subjects. The present review aims to provide an overview of the non-sarcomeric causes of HCM in children, focusing on the pathophysiology, clinical features, diagnosis, and treatment of these rare disorders.
Identifiants
pubmed: 33718303
doi: 10.3389/fped.2021.632293
pmc: PMC7947260
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
632293Informations de copyright
Copyright © 2021 Monda, Rubino, Lioncino, Di Fraia, Pacileo, Verrillo, Cirillo, Caiazza, Fusco, Esposito, Fimiani, Palmiero, Pacileo, Calabrò, Russo and Limongelli.
Déclaration de conflit d'intérêts
The authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
Références
Case Rep Neurol. 2013 Dec 19;5(3):204-7
pubmed: 24516410
Trends Biochem Sci. 2004 Jan;29(1):18-24
pubmed: 14729328
Blood. 2015 Mar 26;125(13):2164-72
pubmed: 25624320
J Pediatr. 2004 Mar;144(3):368-74
pubmed: 15001945
Nat Genet. 2009 Sep;41(9):1022-6
pubmed: 19684605
Cardiol Young. 2006 Dec;16(6):599-601
pubmed: 17116277
Muscle Nerve. 2012 Mar;45(3):319-33
pubmed: 22173792
J Clin Invest. 2011 Mar;121(3):1026-43
pubmed: 21339643
Brain Behav. 2016 May 03;6(7):e00479
pubmed: 27247851
Sci Am. 2008 May;298(5):74-81
pubmed: 18444328
Haematologica. 2012 Sep;97(9):1320-8
pubmed: 22371174
J Inherit Metab Dis. 2011 Dec;34(6):1183-97
pubmed: 21744090
Nat Genet. 2010 Jan;42(1):27-9
pubmed: 19966803
Int J Mol Sci. 2020 Sep 12;21(18):
pubmed: 32932687
J Pediatr. 1999 Dec;135(6):703-6
pubmed: 10586172
Arch Argent Pediatr. 2019 Aug 1;117(4):271-278
pubmed: 31339275
Heart Rhythm. 2011 Jan;8(1):58-64
pubmed: 20888928
J Med Genet. 2007 Dec;44(12):763-71
pubmed: 17704260
J Pediatr Endocrinol Metab. 2008 Nov;21(11):1079-84
pubmed: 19189703
Circulation. 2007 Feb 13;115(6):773-81
pubmed: 17261650
J Am Coll Cardiol. 2019 May 7;73(17):2237-2239
pubmed: 31047013
Circulation. 2003 Jun 10;107(22):2850-6
pubmed: 12782567
Am J Med Genet C Semin Med Genet. 2012 Feb 15;160C(1):69-79
pubmed: 22252989
Best Pract Res Clin Endocrinol Metab. 2011 Feb;25(1):161-79
pubmed: 21396583
Orphanet J Rare Dis. 2013 Feb 12;8:23
pubmed: 23398819
N Engl J Med. 2001 Jun 14;344(24):1823-31
pubmed: 11407343
Hum Mutat. 2009 Apr;30(4):695-702
pubmed: 19206169
Nat Genet. 2007 Aug;39(8):1007-12
pubmed: 17603483
Nat Genet. 2007 Jan;39(1):75-9
pubmed: 17143282
Pediatrics. 2007 Jul;120(1):e37-46
pubmed: 17606547
Arch Dis Child. 1992 Feb;67(2):178-83
pubmed: 1543375
Rheumatology (Oxford). 2011 Dec;50 Suppl 5:v4-12
pubmed: 22210669
Circulation. 2020 Dec 22;142(25):e558-e631
pubmed: 33215931
J Inherit Metab Dis. 2002 May;25(3):207-14
pubmed: 12137229
Mol Ther Methods Clin Dev. 2020 Jun 02;18:240-249
pubmed: 32637453
Am J Med Genet A. 2015 Apr;167A(4):744-51
pubmed: 25708222
Int J Cardiol. 2017 Oct 15;245:92-98
pubmed: 28768581
Future Med Chem. 2014 Jun;6(9):1031-45
pubmed: 25068986
Mol Aspects Med. 2006 Oct-Dec;27(5-6):495-502
pubmed: 16973206
Genomics. 1992 Aug;13(4):931-4
pubmed: 1505983
Genet Med. 2012 Mar;14(3):285-92
pubmed: 22261753
JAMA. 2009 Mar 25;301(12):1253-9
pubmed: 19318653
Circ Arrhythm Electrophysiol. 2016 Jan;9(1):e003121
pubmed: 26729852
Am J Med Genet A. 2008 Mar 1;146A(5):620-8
pubmed: 18241070
Am J Hum Genet. 1997 Oct;61(4):868-72
pubmed: 9382097
Hum Gene Ther. 2005 Jan;16(1):68-80
pubmed: 15703490
Heart. 2004 Aug;90(8):842-6
pubmed: 15253947
Biochim Biophys Acta. 2014 Apr;1840(4):1368-79
pubmed: 24380876
Circ Genom Precis Med. 2020 Dec;13(6):e003117
pubmed: 33151750
Am J Med Genet C Semin Med Genet. 2003 Feb 15;117C(1):42-8
pubmed: 12561057
N Engl J Med. 2005 Jan 27;352(4):362-72
pubmed: 15673802
Eur J Prev Cardiol. 2021 Aug 23;28(10):1081-1090
pubmed: 34425588
J Cardiovasc Electrophysiol. 1999 May;10(5):629-35
pubmed: 10355918
JAMA Cardiol. 2018 Jun 1;3(6):520-525
pubmed: 29710196
Genet Med. 2012 Jan;14(1):135-42
pubmed: 22237443
Am J Hum Genet. 2002 Aug;71(2):389-94
pubmed: 12058348
Genet Med. 2006 May;8(5):267-88
pubmed: 16702877
Genet Med. 2010 Jul;12(7):413-23
pubmed: 20526204
Acta Paediatr Jpn. 1996 Feb;38(1):91-8
pubmed: 8992870
Circulation. 2011 Jul 5;124(1):40-7
pubmed: 21670234
J Cardiovasc Magn Reson. 2015 Oct 24;17:89
pubmed: 26496977
Birth Defects Res. 2020 Jun;112(10):725-731
pubmed: 32558384
Pediatrics. 2004 Oct;114(4):925-31
pubmed: 15466086
Eur J Pediatr. 1998 Jul;157(7):534-8
pubmed: 9686810
Am J Med Genet A. 2003 Nov 15;123A(1):68-71
pubmed: 14556249
Mol Ther. 2005 Jan;11(1):57-65
pubmed: 15585406
Genet Med. 2006 Aug;8(8):465-73
pubmed: 16912578
Pediatrics. 2014 Oct;134(4):e1149-62
pubmed: 25180280
Europace. 2017 Apr 01;19(4):651-659
pubmed: 28431061
Am J Med Genet A. 2011 Mar;155A(3):486-507
pubmed: 21344638
J Cardiovasc Electrophysiol. 2006 Jul;17(7):724-32
pubmed: 16836667
J Inherit Metab Dis. 2005;28(6):1146-8
pubmed: 16435211
Muscle Nerve. 2010 Dec;42(6):908-14
pubmed: 21104865
Circ Res. 2017 Sep 15;121(7):855-873
pubmed: 28912187
Int J Cardiol. 2020 Jan 15;299:186-191
pubmed: 31303393
Dev Med Child Neurol. 2007 Dec;49(12):894-9
pubmed: 18039235
Ann Hum Genet. 1984 Jan;48(1):49-56
pubmed: 6370091
Pediatr Neurol. 2018 Mar;80:8-23
pubmed: 29449072
Nat Genet. 2001 Dec;29(4):465-8
pubmed: 11704759
Annu Rev Genomics Hum Genet. 2017 Aug 31;18:257-275
pubmed: 28415858
J Clin Invest. 1996 Jul 15;98(2):352-7
pubmed: 8755644
J Am Coll Cardiol. 2005 Mar 15;45(6):922-30
pubmed: 15766830
J Inherit Metab Dis. 2016 Sep;39(5):697-704
pubmed: 27106217
J Electrocardiol. 2011 Jul-Aug;44(4):483-6
pubmed: 20381067
Neurology. 2002 Jun 25;58(12):1773-8
pubmed: 12084876
J Trop Pediatr. 2004 Aug;50(4):196-202
pubmed: 15357557
Pediatr Neurol. 2005 Apr;32(4):270-2
pubmed: 15797184
Drugs. 2019 Jul;79(10):1103-1134
pubmed: 31209777
Am J Hum Genet. 2002 Jun;70(6):1555-63
pubmed: 11992261
Am J Cardiol. 2007 Aug 15;100(4):736-41
pubmed: 17697839
Orphanet J Rare Dis. 2008 May 27;3:13
pubmed: 18505544
Circulation. 2008 Jan 15;117(2):144-54
pubmed: 18158359
J Inherit Metab Dis. 2015 May;38(3):573-80
pubmed: 25388549
Genet Med. 2011 Jun;13(6):563-8
pubmed: 21415759
Genet Med. 2010 Jul;12(7):446-63
pubmed: 20631546
Int J Mol Sci. 2020 Sep 04;21(18):
pubmed: 32899712
J Pediatr. 2006 Apr;148(4):533-539
pubmed: 16647419
Eur J Pediatr. 2005 Aug;164(8):509-14
pubmed: 15889279
Am J Cardiol. 2015 Oct 1;116(7):1116-21
pubmed: 26272816
Pediatrics. 2003 Aug;112(2):332-40
pubmed: 12897283
Genes (Basel). 2020 Aug 17;11(8):
pubmed: 32824488
Am J Hum Genet. 2010 Aug 13;87(2):250-7
pubmed: 20619386
Mol Aspects Med. 2020 Feb;71:100836
pubmed: 31866004
Biochim Biophys Acta. 2004 Dec 6;1659(2-3):115-20
pubmed: 15576042
Nat Genet. 2007 Aug;39(8):1013-7
pubmed: 17603482
Nucleic Acids Res. 2016 Jan 4;44(D1):D1251-7
pubmed: 26450961
J Clin Invest. 2002 Feb;109(3):357-62
pubmed: 11827995
Int J Cardiol. 2020 Nov 1;318:101-102
pubmed: 32810552
Mol Genet Metab. 2018 Feb;123(2):177-183
pubmed: 28822614
Circulation. 1982 Jan;65(1):7-17
pubmed: 6458422
Can J Cardiol. 2015 Nov;31(11):1360-76
pubmed: 26518446
Am Heart J. 2012 Sep;164(3):442-8
pubmed: 22980313
J Pediatr. 1989 Mar;114(3):430-2
pubmed: 2493520
Lancet. 2013 Jan 26;381(9863):333-42
pubmed: 23312968
Int J Cardiol. 2019 Feb 1;276:14-19
pubmed: 30482630
J Pediatr. 2009 Oct;155(4 Suppl):S32-46
pubmed: 19765409
Br J Cancer. 2015 Apr 14;112(8):1392-7
pubmed: 25742478
J Clin Invest. 2011 Mar;121(3):1009-25
pubmed: 21339642
Circ Cardiovasc Imaging. 2009 Nov;2(6):485-91
pubmed: 19920047
PLoS One. 2020 May 19;15(5):e0233050
pubmed: 32428018
Circ Res. 2012 Aug 31;111(6):800-14
pubmed: 22935535
Acta Paediatr. 1992 Sep;81(9):702-4
pubmed: 1421914
Int J Cardiol. 2008 Nov 28;130(3):e108-10
pubmed: 17765343
Am J Cardiol. 2012 Feb 1;109(3):406-11
pubmed: 22074992
Eur Heart J. 2014 Oct 14;35(39):2733-79
pubmed: 25173338
N Engl J Med. 1998 Oct 22;339(17):1201-9
pubmed: 9780340
Turk Kardiyol Dern Ars. 2014 Dec;42(8):767-70
pubmed: 25620341
Eur J Prev Cardiol. 2020 Jul 26;:2047487320940863
pubmed: 32715753
Br J Dermatol. 2011 Mar;164(3):521-9
pubmed: 21062266
J Clin Invest. 1995 Sep;96(3):1216-20
pubmed: 7657794
J Cell Sci. 2016 Jun 1;129(11):2135-43
pubmed: 27165304
Sci Transl Med. 2020 Mar 18;12(535):
pubmed: 32188720
Arq Neuropsiquiatr. 2016 Feb;74(2):166-76
pubmed: 26690841
Cardiol Young. 2008 Dec;18(6):575-80
pubmed: 18842161
Circ Res. 2020 Apr 10;126(8):1024-1039
pubmed: 32146862
Ann N Y Acad Sci. 2010 Dec;1214:99-121
pubmed: 20958325
Eur Heart J. 1983 Apr;4(4):223-9
pubmed: 6884370
Diagnostics (Basel). 2020 Jan 23;10(2):
pubmed: 31979324
Arch Dis Child. 2007 Feb;92(2):128-32
pubmed: 16990350
Heart. 2001 Nov;86(5):570-3
pubmed: 11602555
Nat Rev Dis Primers. 2016 Oct 20;2:16080
pubmed: 27775730
Mol Genet Metab. 2015 Sep-Oct;116(1-2):4-12
pubmed: 26095523
Mol Genet Metab. 2012 Nov;107(3):513-20
pubmed: 23022072
Ann Transl Med. 2019 Jul;7(13):287
pubmed: 31392199
Heart Fail Clin. 2018 Apr;14(2):225-235
pubmed: 29525650
Ital J Pediatr. 2018 Nov 16;44(Suppl 2):132
pubmed: 30442171
Eur Heart J. 2013 May;34(19):1448-58
pubmed: 23211230
Circulation. 2020 Jul 21;142(3):217-229
pubmed: 32418493
Circulation. 2019 Jul 2;140(1):e9-e68
pubmed: 31132865
Neurology. 1973 Jan;23(1):95-106
pubmed: 4510595
J Card Fail. 2012 May;18(5):396-403
pubmed: 22555271
Methods Enzymol. 2008;438:277-89
pubmed: 18413255
Drugs. 2007;67(18):2697-716
pubmed: 18062719
Mol Genet Metab Rep. 2014;1:184-196
pubmed: 25061571
J Mol Cell Cardiol. 2004 Sep;37(3):613-23
pubmed: 15350834
J Inherit Metab Dis. 2015 Jan;38(1):145-56
pubmed: 25091424
Circ Heart Fail. 2014 Sep;7(5):843-9
pubmed: 25228319
Trends Cardiovasc Med. 2011 May;21(4):97-104
pubmed: 22681964
Circulation. 2003 Nov 25;108(21):2672-8
pubmed: 14623814
Am J Hum Genet. 2006 Jul;79(1):129-35
pubmed: 16773572
Eur J Prev Cardiol. 2020 Nov;27(17):1906-1908
pubmed: 31718272