Ventricularpre-excitationand Ebstein anomaly in a patient with Phelan Mc Dermid syndrome: A case report
DOI :
https://doi.org/10.13129/1828-6550/APMB.110.1.2022.CCS5Mots-clés :
ventricular pre-excitation, Ebstein’s anomaly, congenital heart disease, genetic syndrome, phelan-mcdermid syndromeRésumé
Phelan-McDermid syndrome (PMS) or deletion 22q13 syndrome is a rare genetic syndrome resulting from loss of 22q13 region involving the SHANK3 gene. Main features are neonatal hypotonia, global developmental delay, absent to severely delayed speech and minor dysmorphic features. The true incidence remains unknown. The deletion can be detected by high resolution chromosome analysis, confirmed by fluorescence in situ hybridization (FISH) or array comparative genomic hybridization (aCGH). Ebstein’s anomaly (EA) is a rare congenital heart disease (1:20.000 live births) that consists in tricuspid valve’s malformation: from minimal displacement of the septal and posterior leaflets to involvement of right ventricular outflow with functional pulmonary atresia and severe right ventricular dysfunction. This condition leads to a large spectrum of clinical presentations. EA patients have a large incidence of tachyarrhythmias, most of which can be attributed to accessory atrioventricular pathways that could be observed to electrocardiogram as ventricular pre-excitation. We describe a case of a child with PMS and accidental finding of ventricular pre-excitation to electrocardiogram that underlined the presence of EA.Références
1. Phelan, M.C., Stapleton, G.A., Rogers, R.C. (2010) Deletion 22q13 syndrome: Phelan-McDermid syndrome. In: Cassidy, S.B., Allanson, J.E., (eds.) The Management of Genetic Syndromes. 3 ed. Hoboken, NJ: John Wiley & Sons; 2010:285-97
2. Phelan, K., Rogers, R.C., Boccuto, L., Phelan-McDermid Syndrome. (2005) [Updated 2018 Jun 7]. In: Adam, .MP., Ardinger, H.H., Pagon, R.A., et al., (eds. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2022. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1198/
3. Frank, Y. (2021) The Neurological Manifestations of Phelan-McDermid Syndrome. Pediatr Neurol. 2021 Sep; 122:59-64. doi: 10.1016/j.pediatrneurol.2021.06.002. Epub 2021 Jun 16. PMID: 34325981.
4. Phelan, M.C. (2008) Deletion 22q13.3 syndrome. Review. Orphanet Journal of Rare Diseases. 3:14 doi:10.1186/1750-1172-3-14
5. 5. Kohlenberg, T.M., Trelles, M.P., McLarney, B., et al. (2020) Psychiatric illness and regression in individuals with Phelan-McDermid syndrome. J NeurodevDisord.; 12(1):7. doi: 10.1186/s11689-020-9309-6. PMID: 32050889; PMCID: PMC7014655.
6. Phelan, K., McDermid, H.E. (2012) The 22q13.3 deletion syndrome (Phelan-McDermid syndrome). MolSyndromol. 2:186–201. PubMed PMID: 22670140
7. Ricciardello, A., Tomaiuolo, P., Persico, A.M. (2021). Genotype–phenotype correlation in Phelan-McDermid syndrome: A comprehensive review of chromosome 22q13 deleted genes. American Journal of Medical Genetics Part A Part A, 185A:2211–2233. https://doi.org/10.1002/ajmg.a.62222
8. Luciani, J.J., De Mas, P., Depetris, D., et al. (2003). Telomeric 22q13 deletions resulting from rings, simple deletions, and translocations: cytogenetic, molecular, and clinical analyses of 32 new observations. J Med Genet. 40(9):690-6. doi: 10.1136/jmg.40.9.690. PMID: 12960216
9. Ravnan, J.B., Tepperberg, J.H., Papenhausen, P., et al. (2006) Subtelomere FISH analysis of 11688 cases: an evaluation of the frequency of subtelomere rearrangements in individuals with developmental disabilities. J Med Genet. 43(6):478-89. doi: 10.1136/jmg.2005.036350. PMID: 16199540
10. AttenhoferJost, C.H., Connolly, H.M., Dearani, J.A., Edwards, W.D., Danielson, G.K. (2007) Ebstein’s anomaly. Circulation. 16;115(2):277-85. doi: 10.1161/CIRCULATIONAHA.106.619338. PMID: 17228014
11. Perloff, J. (1994) The Clinical Recognition of Congenital Heart Disease. 4th ed. WB Saunders.
12. Dearani, J.A., Mora, B.N., Nelson, T.J., Haile, D.T., O’Leary, P.W. (2015) Ebstein’s anomaly review: what’s now, what’s next? Expert Rev CardiovascTher. 13(10):1101-9. doi:10.1586/14779072.2015.1087849. PMID: 26357983
13. Neumann, S., Rüffer, A., Sachweh, J., et al. (2021) CardiovascDiagn Ther;11(6):1310-1323 | http://dx.doi.org/10.21037/cdt-20-771
14. AttenhoferJost, C.H., Connolly, H.M., O’Leary, P.W., Warnes, C.A., Tajik, A.J., Seward, J.B. (2005) Left heart lesions in patients with Ebstein anomaly. Mayo Clin Proc. 80(3):361-8. doi: 10.4065/80.3.361. PMID: 15757018
15. Celermajer, D.S., Bull, C., Till, J.A., et al. (1994) Ebstein's anomaly: Presentation and outcome from fetus to adult. J Am CollCardiol; 23:170–176
16. Celermajer, D.S., Cullen, S., Sullivan, I.D., Spiegelhalter, D.J., Wyse, R.K., Deanfield, J.E. (1992) Outcome in neonates with Ebstein’s anomaly. J Am Coll Cardiol.19(5):1041-6. doi: 10.1016/0735-1097(92)90291-t. PMID: 1552092
17. Pignatelli, R.H., Texter, K.M., Denfield, S.W., Grenier, M.A., Altman, C.A., Ayres, N.A., et al. (2014) LV noncompaction in Ebstein’s anomaly in infants and outcomes. JJACC Cardiovasc Imaging. 7(2):207-9. doi:10.1016/j.jcmg.2013.05.021.
18. Steinmetz, M., Schuster, A. (2021) Narrative review of Ebstein’s anomaly beyond childhood: Imaging, surgery, and future perspectives CircCardiovasc Imaging; 14:e012285. DOI: 10.1161/CIRCIMAGING.121.012285
19. Holst, K.A.; Connolly, H.M.; Dearani, J.A. (2019) Ebstein’s Anomaly. Methodist DebakeyCardiovasc J. 15(2):138-144. doi: 10.14797/mdcj-15-2-138. PMID: 31384377
20. Pérez‐Riera, A.R., Barbosa‐Barros, R., Daminello‐Raimundo, R., et al. (2019) Electro‐vectorcardiographic and electrophysiological aspects of Ebstein’s anomaly. Ann Noninvasive Electrocardiol.;24:e12590. DOI: 10.1111/anec.12590
21. Possner, M., Gensini, F.J., Mauchley, D. C., et al. (2020) Ebstein’s Anomaly of the Tricuspid Valve: an Overview of Pathology and Management Curr. Card. Rep. 22:157. https://doi.org/10.1007/s11886-020-01412-z
22. Walsh, E.P. (2018) Ebstein’s anomaly of the tricuspid valve: a natural laboratory for re-entrant tachycardias. JACC ClinElectrophysiol. 4(10):1271-1288. doi: 10.1016/j.jacep.2018.05.024. PMID: 30336873
23. He, B.J., Merriman, A.F., Cakulev, I., et al. (2021) Ebstein's Anomaly: Review of Arrhythmia Types and Morphogenesis of the Anomaly. JACC ClinElectrophysiol. 7(9):1198-1206. doi:10.1016/j.jacep.2021.05.008.
Galea, J., Ellul, S., Schembri, A., et al. (2014) Ebstein Anomaly: A Review. Springer Publishing Company, Vol. 33, NO. 5. http://dx.doi.org/10.1891/0730-0832.33.5.268
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