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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

ytogenomics Investigation of Infants with Congenital Heart Disease: Experience of a Brazilian Cente

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Author(s):
Grassi, Marcilia Sierro [1] ; Montenegro, Marilia [2] ; Zanardo, Evelin Aline [2] ; Pastorino, Antonio Carlos [1] ; Dorna, Mayra Barros [1] ; Kim, Chong [2] ; Jatene, Marcelo [1] ; Miura, Nana [1] ; Kulikowski, Leslie [2] ; Carneiro-Sampaio, Magda [1]
Total Authors: 10
Affiliation:
[1] Univ Sao Paulo, Hosp Clin, Sao Paulo, SP - Brazil
[2] Univ Sao Paulo, Sao Paulo, SP - Brazil
Total Affiliations: 2
Document type: Journal article
Source: Arquivos Brasileiros de Cardiologia; v. 118, n. 1, p. 61-67, 2022.
Web of Science Citations: 0
Abstract

Background: Some syndromes have specific and easily recognizable features, while others may be more complex to identify and may present different phenotypic manifestations, for example. An etiological diagnosis is important to understand the nature of the disease, to establish the prognosis and to start the treatment, allowing the inclusion of patients in society and reducing the financial cost of such diseases. Objective: The initial proposal of this study was cytogenetic screening for the detection of the 22q11.2 deletion syndrome in consecutive newborns and infants with congenital heart disease using the multiplex ligation-dependent probe amplification (MLPA) technique. Therefore, throughout our research, other genomic alterations were identified in these cardiac patients. Thus, our objective was extended to investigate these other cytogenetic alterations. Methods: We investigated 118 neonates with congenital heart diseases born consecutively during one year using the MLPA technique. Results: The MLPA technique allowed the detection of 22q11.2DS in 10/118 patients (8.5%). Other genomic alterations were also identified in 6/118 patients (5%): 1p36 del, 8p23 del (2 cases), 7q dup, 12 dup and 8q24 dup. Conclusion: This study highlights the relevance of detecting genomic alterations that are present in newborns and infants with congenital cardiac diseases using cytogenomic tools. (AU)

FAPESP's process: 14/50489-9 - Human thymus: development and diseases
Grantee:Magda Maria Sales Carneiro-Sampaio
Support Opportunities: Research Projects - Thematic Grants