Epidemiology of Pediatric Cardiomyopathy in a Mediterranean Population
Abstract
:1. Introduction
2. Materials and Methods
3. Results
4. Discussion
5. Conclusions
Author Contributions
Funding
Institutional Review Board Statement
Informed Consent Statement
Data Availability Statement
Conflicts of Interest
References
- Elliott, P.; Andersson, B.; Arbustini, E.; Bilinska, Z.; Cecchi, F.; Charron, P.; Dubourg, O.; Kühl, U.; Maisch, B.; McKenna, W.J.; et al. Classification of the cardiomyopathies: A position statement from the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases. Eur. Heart J. 2008, 29, 270–276. [Google Scholar] [CrossRef] [PubMed]
- Lipshultz, S.E.; Law, Y.M.; Asante-Korang, A.; Austin, E.D.; Dipchand, A.I.; Everitt, M.D.; Hsu, D.T.; Lin, K.Y.; Price, J.F.; Wilkinson, J.D.; et al. Cardiomyopathy in children: Classification and diagnosis. Circulation 2019, 140, e9–e68. [Google Scholar] [CrossRef] [PubMed]
- Tsatsopoulou, A.; Protonotarios, I.; Xylouri, Z.; Papagiannis, I.; Anastasakis, A.; Germanakis, I.; Patrianakos, A.; Nyktari, E.; Gavras, C.; Papadopoulos, G.; et al. Cardiomyopathies in children: An overview. Hell. J. Cardiol. 2023, 72, 43–56. [Google Scholar] [CrossRef] [PubMed]
- Lipshultz, S.E.; Sleeper, L.A.; Towbin, J.A.; Lowe, A.M.; Orav, E.J.; Cox, G.F.; Lurie, P.R.; McCoy, K.L.; McDonald, M.A.; Messere, J.E.; et al. The incidence of pediatric cardiomyopathy in two regions of the United States. N. Engl. J. Med. 2003, 348, 1647–1655. [Google Scholar] [CrossRef] [PubMed]
- Nugent, A.W.; Piers, B.S.; Daubeney, P.E.; Chondros, P.; Carlin, J.B.; Cheung, M.; Wilkinson, L.C.; Davis, A.M.; Kahler, S.G.; Chow, C.; et al. The epidemiology of childhood cardiomyopathy in Australia. N. Eng. J. Med. 2003, 348, 1639–1646. [Google Scholar] [CrossRef] [PubMed]
- Arola, A.; Jokinen, E.; Ruuskanen, O.; Saraste, M.; Pesonen, E.; Kuusela, A.-L.; Tikanoja, T.; Paavilainen, T.; Simell, O. Epidemiology of idiopathic Cardiomyopathies in Children and Adolescents. Am. J. Epidemiol. 1997, 146, 385–393. [Google Scholar] [CrossRef] [PubMed]
- Arbelo, E.; Protonotarios, A.; Gimeno, J.R.; Arbustini, E.; Barriales-Villa, R.; Basso, C.; Bezzina, C.R.; Biagini, E.; A Blom, N.; A de Boer, R.; et al. 2023 ESC guidelines for the management of cardiomyopathies. Eur. Heart J. 2023, 44, 3503–3626. [Google Scholar] [CrossRef] [PubMed]
- Wilkinson, J.D.; Sleeper, L.A.; Alvarez, J.A.; Bublik, N.; Lipshultz, S.E. The Pediatric Cardiomyopathy Registry: 1995–2007. Prog. Pediatr. Cardiol. 2008, 25, 31–36. [Google Scholar] [CrossRef] [PubMed]
- The Boston Children’s Hospital z-Score System. Available online: https://zscore.chboston.org/ (accessed on 1 January 2022).
- Hellenic Statistical Authority. Available online: https://www.statistics.gr/el/statistics/-/publication/SPO18 (accessed on 13 May 2024).
- De Sanctis, V.; Kattamis, C.; Canatan, D.; Soliman, A.T.; Elsedfy, H.; Karimi, M.; Daar, S.; Wali, Y.; Yassin, M.; Soliman, N.; et al. Beta-thalassemia distribution in the Old World: An ancient disease seen from a historical standpoint. Mediterr. J. Hematol. Infect. Dis. 2017, 9, e2017018. [Google Scholar] [CrossRef]
- Lancieri, M.; Bustaffa, M.; Palmeri, S.; Prigione, I.; Penco, F.; Papa, R.; Volpi, S.; Caorsi, R.; Gattorno, M. An Update on Familial Mediterranean Fever. Int. J. Mol. Sci. 2023, 24, 9584. [Google Scholar] [CrossRef]
- Charoute, H.; Bakhchane, A.; Benrahma, H.; Romdhane, L.; Gabi, K.; Rouba, H.; Fakiri, M.; Abdelhak, S.; Lenaers, G.; Barakat, A. Mediterranean Founder Mutation Database (MFMD):Taking Advantage from Founder Mutations in Genetics Diagnosis, Genetic Diversity and Migration History of the Mediterranean Population. Hum. Mutat. 2015, 36, E2441–E2453. [Google Scholar] [CrossRef] [PubMed]
- Tzagournissakis, M.; Foukarakis, E.; Samonakis, D.; Tsilimbaris, M.; Michaelidou, K.; Mathioudakis, L.; Marinis, A.; Giannakoudakis, E.; Spanaki, C.; Skoula, I.; et al. High Hereditary Transthyretin-Related Amyloidosis Prevalence in Crete. Genetic Heterogeneity and Distinct Phenotypes. Neurol. Genet. 2022, 8, e200013. [Google Scholar] [CrossRef] [PubMed]
- Elliott, P.; Charron, P.; Blanes, J.R.G.; Tavazzi, L.; Tendera, M.; Konté, M.; Laroche, C.; Maggioni, A.P. European Cardiomyopathy Pilot Registry: EURObservational Research Programme of the European Society of Cardiology. Eur. Heart J. 2016, 37, 164–173. [Google Scholar] [CrossRef] [PubMed]
- Maurizi, N.; Passantino, S.; Spaziani, G.; Girolami, F.; Arretini, A.; Targetti, M.; Pollini, I.; Tomberli, A.; Pradella, S.; Calabri, G.B.; et al. Long-term Outcomes of Pediatric-Onset Hypertrophic Cardiomyopathy and Age-Specific Risk Factors for Lethal Arrhythmic Events. JAMA Cardiol. 2018, 3, 520–525. [Google Scholar] [CrossRef] [PubMed]
- Lodato, V.; Parlapiano, G.; Calì, F.; Silvetti, M.S.; Adorisio, R.; Armando, M.; El Hachem, M.; Romanzo, A.; Dionisi-Vici, C.; Digilio, M.C.; et al. Cardiomyopathies in children and systemic disorders when is it useful to look beyond the heart? J. Cardiovasc. Dev. Dis. 2022, 9, 47. [Google Scholar] [CrossRef] [PubMed]
- Drineas, P.; Tsetsos, F.; Plantinga, A.; Lazaridis, I.; Yannaki, E.; Razou, A.; Kanaki, K.; Michalodimitrakis, M.; Perez-Jimenez, F.; De Silvestro, G.; et al. Genetic history of the population of Crete. Ann. Hum. Gen. 2019, 83, 373–388. [Google Scholar] [CrossRef] [PubMed]
- Andrews, R.E.; Fenton, M.J.; Ridout, D.A.; Burch, M. New-onset heart failure due to Heart muscle disease. A prospective study in the United Kingdom and Ireland. Circulation 2008, 117, 79–84. [Google Scholar] [CrossRef]
- Towbin, J.A.; Lowe, A.M.; Colan, S.D.; Sleeper, L.A.; Orav, E.J.; Clunie, S.; Messere, J.; Cox, G.F.; Lurie, P.R.; Hsu, D.; et al. Incidence, causes and outcomes of dilated cardiomyopathy in children. JAMA 2006, 296, 1867–1876. [Google Scholar] [CrossRef]
- Colan, S.D.; Lipshultz, S.E.; Lowe, A.M.; Sleeper, L.A.; Messere, J.; Cox, G.F.; Lurie, P.R.; Orav, E.J.; Towbin, J.A.; P, A.; et al. Epidemiology and cause specific outcome of hypertrophic cardiomyopathy in children. Circulation 2007, 115, 773–781. [Google Scholar] [CrossRef]
- A Marston, N.; Han, L.; Olivotto, I.; Day, S.M.; A Ashley, E.; Michels, M.; Pereira, A.C.; Ingles, J.; Semsarian, C.; Jacoby, D.; et al. Clinical characteristics and outcomes in childhood- onset hypertrophic cardiomyopathy. Eur. Heart J. 2021, 42, 1988–1996. [Google Scholar] [CrossRef]
- Alexander, P.M.A.; Nugent, A.W.; Daubeney, P.E.F.; Lee, K.J.; Sleeper, L.A.; Schuster, T.; Turner, C.; Davis, A.M.; Semsarian, C.; Colan, S.D.; et al. Long-Term Outcomes of Hypertrophic Cardiomyopathy Diagnosed During Childhood Results from a National Population-Based Study. Circulation 2018, 138, 29–36. [Google Scholar] [CrossRef] [PubMed]
- Rath, A.; Weintraub, R. Overview of cardiomyopathies in childhood. Front. Pediatr. 2021, 9, 708732. [Google Scholar] [CrossRef] [PubMed]
- Kaski, J.P.; Syrris, P.; Burch, M.; Tomé-Esteban, M.-T.; Fenton, M.; Christiansen, M.; Andersen, P.S.; Sebire, N.; Ashworth, M.; Deanfield, J.E.; et al. Idiopathic restrictive cardiomyopathy in children is caused by mutations in cardiac sarcomere protein genes. Heart 2008, 94, 1478–1484. [Google Scholar] [CrossRef]
- Corrado, D.; Basso, C.; Judge, D.P. Arrhythmogenic cardiomyopathy. Circ. Res. 2017, 121, 785–802. [Google Scholar] [CrossRef] [PubMed]
- Anastasakis, A.; Papatheodorou, E.; Ritsatos, K.; Protonotarios, N.; Rentoumi, V.; Gatzoulis, K.; Antoniades, L.; Agapitos, E.; Koutsaftis, P.; Spiliopoulou, C.; et al. Sudden unexplained death in the young: Epidemiology, aetiology and value of the clinically guided genetic. Europace 2018, 20, 472–480. [Google Scholar] [CrossRef] [PubMed]
- Kindel, S.J.; Miller, E.M.; Gupta, R.; Cripe, L.H.; Hinton, R.B.; Spicer, R.L.; Towbin, J.A.; Ware, S.M. Pediatric cardiomyopathy: Importance of genetic and metabolic evaluation. J. Card. Fail. 2012, 18, 396–403. [Google Scholar] [CrossRef]
- Baban, A.; Lodato, V.; Parlapiano, G.; di Mambro, C.; Adorisio, R.; Bertini, E.S.; Dionisi-Vici, C.; Drago, F.; Martinelli, D. Myocardial and Arrhythmic Spectrum of Neuromuscular Disorders in Children. Biomolecules 2021, 11, 1578. [Google Scholar] [CrossRef]
- Bagnall, R.D.; Singer, E.S.; Wacker, J.; Nowak, N.; Ingles, J.; King, I.; Macciocca, I.; Crowe, J.; Ronan, A.; Weintraub, R.G.; et al. Genetic Basis of Childhood Cardiomyopathy. Circ. Genom. Precis. Med. 2022, 15, e003686. [Google Scholar] [CrossRef]
DCM n (%) | HCM n (%) | ACM n (%) | RCM n (%) | CMP n | CMP % | |
---|---|---|---|---|---|---|
Patients | 20 (50) | 17 (42.5) | 2 (5) | 1 (2.5) | 40 | 100 |
Male | 16 (80) | 9 (53) | 1 (50) | 1(100) | 27 | 67.5 |
Female | 4 (20) | 8 (47) | 1 (50) | 0 | 13 | 32.5 |
Age at diagnosis | ||||||
<1 year | 13 (65) | 5 (29.5) | 0 | 0 | 18 | 45 |
2–11 years | 7 (35) | 4 (23.5) | 0 | 0 | 11 | 27.5 |
12–18 years | 0 | 8 (47) | 2 (100) | 1 (100) | 11 | 27.5 |
Clinical presentation at diagnosis | ||||||
Clinical symptoms | ||||||
Heart failure symptoms | 13 (65) | 0 | 0 | 0 | 13 | 32.5 |
Murmur | 2 (10) | 6 (35) | 0 | 0 | 8 | 20 |
Congenital malformations | 0 | 5 (29) | 0 | 0 | 5 | 12.5 |
Exercise intolerance | 2 (10) | 2 (12) | 0 | 0 | 4 | 10 |
Syncope/Seizure episodes | 0 | 2 (12) | 1 (50) | 1 (100) | 4 | 10 |
Myocarditis | 1 (5) | 0 | 0 | 0 | 1 | 2.5 |
Sudden cardiac death | 0 | 0 | 1 (50) | 0 | 1 | 2.5 |
Asymptomatic | ||||||
Cascade family screening | 1 (5) | 3 (17) | 0 | 0 | 4 | 20 |
Preparticipation sports screening | 1 (5) | 1(6) | 0 | 0 | 2 | 5 |
Specific primary causes of CMP | ||||||
Genetic causes | ||||||
Pathogenic sarcomeric variant | 0 | 4 (23) | 0 | 0 | 4 | 10 |
Pathogenic non-sarcomeric variant | 3 (15) | 2 (12) | 0 | 0 | 4 | 10 |
Inborn errors of metabolism | ||||||
Glycogen storage disease type 3 | 0 | 1 (6) | 0 | 0 | 1 | 2.5 |
Primary carnitine deficiency (disorders of fatty-acid metabolism) | 0 | 2 (12) | 0 | 0 | 2 | 5 |
LCAD (disorders of fatty-acid metabolism) | 1 (5) | 0 | 0 | 0 | 1 | 2.5 |
Neuromuscular disorders | ||||||
Duchenne’s muscular dystrophy | 1 (5) | 0 | 0 | 0 | 1 | 2.5 |
Inflammatory causes | ||||||
Acute myocarditis | 1 (5) | 0 | 0 | 0 | 1 | 2.5 |
Malformation syndromes | ||||||
Noonan syndrome | 0 | 1 (6) | 0 | 0 | 1 | 2.5 |
Arola et al. 1997 [6] | Nugent et al. 2003 [5] | Lipshulz et al. 2003 [4] | Present Study | |
---|---|---|---|---|
Pro/ retrospective | retrospective | retrospective | prospective | retrospective |
Duration (years) | 12 (1980–1991) | 10 (1987–1996) | 3 (1996–1999) | 20 (2002–2022) |
Country | Finland | Australia | USA | Greece- Crete |
Ages | 0–20 | 0–10 | 0–18 | 0–18 |
Cases | 118 | 314 | 467 | 40 |
CMP incidence/ 100,000/year | 0.65–0.74 | 1.24 | 1.13 | 1.59 |
95% CI | 0.65–0.74 | 1.11–1.38 | 1.03–1.23 | 1.4–2.3 |
HCM (%) | 37 | 25 | 42 | 42.5 |
DCM (%) | 52 | 58 | 51 | 50 |
Disclaimer/Publisher’s Note: The statements, opinions and data contained in all publications are solely those of the individual author(s) and contributor(s) and not of MDPI and/or the editor(s). MDPI and/or the editor(s) disclaim responsibility for any injury to people or property resulting from any ideas, methods, instructions or products referred to in the content. |
© 2024 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/).
Share and Cite
Bagkaki, A.; Parthenakis, F.; Chlouverakis, G.; Anastasakis, A.; Papagiannis, I.; Galanakis, E.; Germanakis, I. Epidemiology of Pediatric Cardiomyopathy in a Mediterranean Population. Children 2024, 11, 732. https://doi.org/10.3390/children11060732
Bagkaki A, Parthenakis F, Chlouverakis G, Anastasakis A, Papagiannis I, Galanakis E, Germanakis I. Epidemiology of Pediatric Cardiomyopathy in a Mediterranean Population. Children. 2024; 11(6):732. https://doi.org/10.3390/children11060732
Chicago/Turabian StyleBagkaki, Alena, Fragiskos Parthenakis, Gregory Chlouverakis, Aris Anastasakis, Ioannis Papagiannis, Emmanouil Galanakis, and Ioannis Germanakis. 2024. "Epidemiology of Pediatric Cardiomyopathy in a Mediterranean Population" Children 11, no. 6: 732. https://doi.org/10.3390/children11060732
APA StyleBagkaki, A., Parthenakis, F., Chlouverakis, G., Anastasakis, A., Papagiannis, I., Galanakis, E., & Germanakis, I. (2024). Epidemiology of Pediatric Cardiomyopathy in a Mediterranean Population. Children, 11(6), 732. https://doi.org/10.3390/children11060732