The outcome of genetic and non-genetic pediatric cardiomyopathies.
Journal
The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of Cardiology
ISSN: 2090-911X
Titre abrégé: Egypt Heart J
Pays: Germany
ID NLM: 9106952
Informations de publication
Date de publication:
03 Apr 2024
03 Apr 2024
Historique:
received:
02
01
2024
accepted:
25
03
2024
medline:
3
4
2024
pubmed:
3
4
2024
entrez:
3
4
2024
Statut:
epublish
Résumé
Pediatric cardiomyopathies (CMP) can be familial or idiopathic with increasing detection of genetic mutations. The study is a retrospective single-center review of cardiomyopathy patients from January 2011 to May 2020. Results of the genetic study, as well as the outcome, were reported. Patients were divided according to the type of CMP, age of presentation, and EF at presentation. Univariate and multivariate analysis and ROC and survival curves were done. We reported 229 patients under 14 years of age with a diagnosis of cardiomyopathy, most commonly DCM (160 patients (70%)) followed by HCM (26.2%). 52% presented at 6 months of age or less and 119 (52%) required ICU admission at presentation. The genetic and or metabolic disorder was confirmed in 21.4% of patients, most commonly VLCAD defect (16, 7%) and ELAC2 gene defect (10, 4.4%). During the disease course, 88 patients (38.4%) died (48 with DCM, 39 with HCM, and 1 with RCM). An EF of 20% or less at presentation and presentation at 6 months of age or less carries a risk for mortality in patients with DCM and HCM, respectively (RR 3.88 and 2.06 and OR of 11.09 and 4.35, respectively). Death was more common among HCM patients especially patients with positive genetic abnormality compared with patients with DCM. The mortality for CMP in children reaches up to 40%, (30% in DCM and 65% in HCM patients). Mortality was higher in those with HCM, DCM with EF of 20% or less, and HCM presented at 6 months of age or less. Whole-exome and/or whole-genome sequencing is advised for all patients of CMP and at-risk family members.
Sections du résumé
BACKGROUND
BACKGROUND
Pediatric cardiomyopathies (CMP) can be familial or idiopathic with increasing detection of genetic mutations. The study is a retrospective single-center review of cardiomyopathy patients from January 2011 to May 2020. Results of the genetic study, as well as the outcome, were reported. Patients were divided according to the type of CMP, age of presentation, and EF at presentation. Univariate and multivariate analysis and ROC and survival curves were done.
RESULTS
RESULTS
We reported 229 patients under 14 years of age with a diagnosis of cardiomyopathy, most commonly DCM (160 patients (70%)) followed by HCM (26.2%). 52% presented at 6 months of age or less and 119 (52%) required ICU admission at presentation. The genetic and or metabolic disorder was confirmed in 21.4% of patients, most commonly VLCAD defect (16, 7%) and ELAC2 gene defect (10, 4.4%). During the disease course, 88 patients (38.4%) died (48 with DCM, 39 with HCM, and 1 with RCM). An EF of 20% or less at presentation and presentation at 6 months of age or less carries a risk for mortality in patients with DCM and HCM, respectively (RR 3.88 and 2.06 and OR of 11.09 and 4.35, respectively). Death was more common among HCM patients especially patients with positive genetic abnormality compared with patients with DCM.
CONCLUSIONS
CONCLUSIONS
The mortality for CMP in children reaches up to 40%, (30% in DCM and 65% in HCM patients). Mortality was higher in those with HCM, DCM with EF of 20% or less, and HCM presented at 6 months of age or less. Whole-exome and/or whole-genome sequencing is advised for all patients of CMP and at-risk family members.
Identifiants
pubmed: 38568384
doi: 10.1186/s43044-024-00473-7
pii: 10.1186/s43044-024-00473-7
doi:
Types de publication
Journal Article
Langues
eng
Pagination
43Informations de copyright
© 2024. The Author(s).
Références
Maron BJ, Towbin JA, Thiene G et al (2006) Contemporary definitions and classification of the cardiomyopathies. Circulation 113(14):1807–1816. https://doi.org/10.1161/CIRCULATIONAHA.106.174287
doi: 10.1161/CIRCULATIONAHA.106.174287
pubmed: 16567565
Nugent AW, Daubeney PEF, Chondros P et al (2003) The epidemiology of childhood cardiomyopathy in Australia. N Engl J Med 348(17):1639–1646. https://doi.org/10.1056/NEJMoa021737
doi: 10.1056/NEJMoa021737
pubmed: 12711738
Elliott P, Andersson B, Arbustini E et al (2007) Classification of the cardiomyopathies: a position statement from the European society of cardiology working group on myocardial and pericardial diseases. Eur Heart J 29(2):270–276. https://doi.org/10.1093/eurheartj/ehm342
doi: 10.1093/eurheartj/ehm342
pubmed: 17916581
Everitt MD, Sleeper LA, Lu M et al (2014) Recovery of echocardiographic function in children with idiopathic dilated cardiomyopathy. J Am Coll Cardiol 63(14):1405–1413. https://doi.org/10.1016/j.jacc.2013.11.059
doi: 10.1016/j.jacc.2013.11.059
pubmed: 24561146
pmcid: 4030008
Lewis AB (2014) Normalization of function in pediatric dilated cardiomyopathy. J Am Coll Cardiol 63(14):1414–1415. https://doi.org/10.1016/j.jacc.2014.01.037
doi: 10.1016/j.jacc.2014.01.037
pubmed: 24561147
Gannon MP, Schaub E, Grines CL, Saba SG (2019) State of the art: evaluation and prognostication of myocarditis using cardiac MRI. J Magn Reson Imaging 49(7):e122–e131. https://doi.org/10.1002/jmri.26611
doi: 10.1002/jmri.26611
pubmed: 30637834
Tril VE, Burlutskaya AV, Polischuk LV (2019) Metabolic cardiomyopathy in pediatrics. Rev Cardiovasc Med 20(2):73. https://doi.org/10.31083/j.rcm.2019.02.5151
doi: 10.31083/j.rcm.2019.02.5151
pubmed: 31344999
Papadopoulou-Legbelou K, Gogou M, Evangeliou A (2017) Cardiac manifestations in children with inborn errors of metabolism. Indian Pediatr 54(8):667–673. https://doi.org/10.1007/s13312-017-1131-1
doi: 10.1007/s13312-017-1131-1
pubmed: 28891481
Hershberger RE, Givertz MM, Ho CY et al (2018) Genetic evaluation of cardiomyopathy: a clinical practice resource of the American college of medical genetics and genomics (ACMG). Genet Med 20(9):899–909. https://doi.org/10.1038/s41436-018-0039-z
doi: 10.1038/s41436-018-0039-z
pubmed: 29904160
Al-Hassnan ZN, Almesned A, Tulbah S et al (2020) Categorized genetic analysis in childhood-onset cardiomyopathy. Circ Genomic Precis Med 13(5):504–514. https://doi.org/10.1161/CIRCGEN.120.002969
doi: 10.1161/CIRCGEN.120.002969
Lang RM, Bierig M, Devereux RB et al (2005) Recommendations for chamber quantification: a report from the American society of echocardiography’s guidelines and standards committee and the chamber quantification writing group, developed in conjunction with the European association of echocardiograph. J Am Soc Echocardiogr 18(12):1440–1463. https://doi.org/10.1016/j.echo.2005.10.005
doi: 10.1016/j.echo.2005.10.005
pubmed: 16376782
Colan SD, Parness IA, Spevak PJ, Sanders SP (1992) Developmental modulation of myocardial mechanics: age- and growth-related alterations in afterload and contractility. J Am Coll Cardiol 19(3):619–629. https://doi.org/10.1016/S0735-1097(10)80282-7
doi: 10.1016/S0735-1097(10)80282-7
pubmed: 1538019
Ommen SR, Mital S, Burke MA et al (2020) AHA/ACC guideline for the diagnosis and treatment of patients with hypertrophic cardiomyopathy. Circulation. https://doi.org/10.1161/CIR.0000000000000937
doi: 10.1161/CIR.0000000000000937
pubmed: 33215938
Lipshultz SE, Sleeper LA, Towbin JA et al (2003) The incidence of pediatric cardiomyopathy in two regions of the United States. N Engl J Med 348(17):1647–1655. https://doi.org/10.1056/NEJMoa021715
doi: 10.1056/NEJMoa021715
pubmed: 12711739
OMIM. Online Mendelian Inheritance in Man. http://omim.org/ .
Norton N, Li D, Hershberger RE (2012) Next-generation sequencing to identify genetic causes of cardiomyopathies. Curr Opin Cardiol 27(3):214–220. https://doi.org/10.1097/HCO.0b013e328352207e
doi: 10.1097/HCO.0b013e328352207e
pubmed: 22421630
Shinwari ZMA, Almesned A, Alakhfash A et al (2017) The phenotype and outcome of infantile cardiomyopathy caused by a homozygous ELAC2 mutation. Cardiology 137(3):188–192. https://doi.org/10.1159/000465516
doi: 10.1159/000465516
pubmed: 28441660
Wilkinson JD, Landy DC, Colan SD et al (2010) The pediatric cardiomyopathy registry and heart failure: key results from the first 15 years. Heart Fail Clin 6(4):401–413. https://doi.org/10.1016/j.hfc.2010.05.002
doi: 10.1016/j.hfc.2010.05.002
pubmed: 20869642
pmcid: 2946942
Jefferies JL, Wilkinson JD, Sleeper LA et al (2015) Cardiomyopathy phenotypes and outcomes for children with left ventricular myocardial noncompaction: results from the pediatric cardiomyopathy registry. J Card Fail 21(11):877–884. https://doi.org/10.1016/j.cardfail.2015.06.381
doi: 10.1016/j.cardfail.2015.06.381
pubmed: 26164213
pmcid: 4630116
Thomas JD, Popović ZB (2006) Assessment of left ventricular function by cardiac ultrasound. J Am Coll Cardiol 48(10):2012–2025. https://doi.org/10.1016/j.jacc.2006.06.071
doi: 10.1016/j.jacc.2006.06.071
pubmed: 17112991
den Boer SL, Rizopoulos D, du MarchieSarvaas GJ et al (2016) Usefulness of serial N-terminal pro-B-type natriuretic peptide measurements to predict cardiac death in acute and chronic dilated cardiomyopathy in children. Am J Cardiol 118(11):1723–1729. https://doi.org/10.1016/j.amjcard.2016.08.053
doi: 10.1016/j.amjcard.2016.08.053
Towbin JA, Lowe AM, Colan SD et al (2006) Incidence, causes, and outcomes of dilated cardiomyopathy in children. JAMA 296(15):1867. https://doi.org/10.1001/jama.296.15.1867
doi: 10.1001/jama.296.15.1867
pubmed: 17047217
Rodriguez-Gonzalez M, Sanchez-Codez MI, Lubian-Gutierrez M, Castellano-Martinez A (2019) Clinical presentation and early predictors for poor outcomes in pediatric myocarditis: a retrospective study. World J Clin Cases 7(5):548–561. https://doi.org/10.12998/wjcc.v7.i5.548
doi: 10.12998/wjcc.v7.i5.548
pubmed: 30863755
pmcid: 6406197
Kantor PF, Lougheed J, Dancea A et al (2013) Presentation, diagnosis, and medical management of heart failure in children: Canadian cardiovascular society guidelines. Can J Cardiol 29(12):1535–1552. https://doi.org/10.1016/j.cjca.2013.08.008
doi: 10.1016/j.cjca.2013.08.008
pubmed: 24267800
Andrews RE, Fenton MJ, Ridout DA, Burch M (2008) New-onset heart failure due to heart muscle disease in childhood. Circulation 117(1):79–84. https://doi.org/10.1161/CIRCULATIONAHA.106.671735
doi: 10.1161/CIRCULATIONAHA.106.671735
pubmed: 18086928
Rossano JW, Kim JJ, Decker JA et al (2012) Prevalence, morbidity, and mortality of heart failure-related hospitalizations in children in the United States: a population-based study. J Card Fail 18(6):459–470. https://doi.org/10.1016/j.cardfail.2012.03.001
doi: 10.1016/j.cardfail.2012.03.001
pubmed: 22633303
Butts RJ, Boyle GJ, Deshpande SR et al (2017) Characteristics of clinically diagnosed pediatric myocarditis in a contemporary multi-center cohort. Pediatr Cardiol 38(6):1175–1182. https://doi.org/10.1007/s00246-017-1638-1
doi: 10.1007/s00246-017-1638-1
pubmed: 28536746
Rusconi P, Wilkinson JD, Sleeper LA et al (2017) Differences in Presentation and Outcomes Between Children With Familial Dilated Cardiomyopathy and Children With Idiopathic Dilated Cardiomyopathy: A Report From the Pediatric Cardiomyopathy Registry Study Group. Circ Heart Fail. https://doi.org/10.1161/CIRCHEARTFAILURE.115.002637
doi: 10.1161/CIRCHEARTFAILURE.115.002637
pubmed: 28193717
pmcid: 5516533
Schweiger M, Stiasny B, Dave H et al (2015) Pediatric heart transplantation. J Thorac Dis 7(3):552–559. https://doi.org/10.3978/j.issn.2072-1439.2015.01.38
doi: 10.3978/j.issn.2072-1439.2015.01.38
pubmed: 25922739
pmcid: 4387410
Zschirnt M, Thul J, Akintürk H et al (2020) Aetiology and 30-year long-term outcome of children with cardiomyopathy necessitating heart transplantation. J Pers Med 10(4):251. https://doi.org/10.3390/jpm10040251
doi: 10.3390/jpm10040251
pubmed: 33260794
pmcid: 7712803
Robinson J, Hartling L, Vandermeer B, Sebastianski M, Klassen TP (2020) Intravenous immunoglobulin for presumed viral myocarditis in children and adults. Cochrane Database Syst Rev. https://doi.org/10.1002/14651858.CD004370.pub4
doi: 10.1002/14651858.CD004370.pub4
pubmed: 32901926
pmcid: 8082957
Maron BJ, Maron MS, Semsarian C (2012) Genetics of hypertrophic cardiomyopathy after 20 years. J Am Coll Cardiol 60(8):705–715. https://doi.org/10.1016/j.jacc.2012.02.068
doi: 10.1016/j.jacc.2012.02.068
pubmed: 22796258
Colan SD, Lipshultz SE, Lowe AM et al (2007) Epidemiology and cause-specific outcome of hypertrophic cardiomyopathy in children: findings from the pediatric cardiomyopathy registry. Circulation 115(6):773–781. https://doi.org/10.1161/CIRCULATIONAHA.106.621185
doi: 10.1161/CIRCULATIONAHA.106.621185
pubmed: 17261650
Chen M, Zhang L, Quan S (2017) Enzyme replacement therapy for infantile-onset Pompe disease. Cochrane Database Syst Rev. https://doi.org/10.1002/14651858.CD011539.pub2
doi: 10.1002/14651858.CD011539.pub2
pubmed: 29199767
pmcid: 6486174
Lin HY, Chuang CK, Chen MR et al (2016) Cardiac structure and function and effects of enzyme replacement therapy in patients with mucopolysaccharidoses I, II, IVA and VI. Mol Genet Metab 117(4):431–437. https://doi.org/10.1016/j.ymgme.2016.02.003
doi: 10.1016/j.ymgme.2016.02.003
pubmed: 26899310
Arbustini E, Weidemann F, Hall JL (2014) Left ventricular noncompaction. J Am Coll Cardiol 64(17):1840–1850. https://doi.org/10.1016/j.jacc.2014.08.030
doi: 10.1016/j.jacc.2014.08.030
pubmed: 25443708
pmcid: 10352990