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Chromosomal Abnormalities in Patients with Congenital Heart Disease

BACKGROUND: Chromosomal abnormalities (CAs) are an important cause of congenital heart disease (CHD). OBJECTIVE: Determine the frequency, types and clinical characteristics of CAs identified in a sample of prospective and consecutive patients with CHD. METHOD: Our sample consisted of patients with C...

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Autores principales: Trevisan, Patrícia, Zen, Tatiana Diehl, Rosa, Rafael Fabiano Machado, da Silva, Juliane Nascimento, Koshiyama, Dayane Bohn, Paskulin, Giorgio Adriano, Zen, Paulo Ricardo Gazzola
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sociedade Brasileira de Cardiologia 2013
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106807/
https://www.ncbi.nlm.nih.gov/pubmed/24145389
http://dx.doi.org/10.5935/abc.20130204
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author Trevisan, Patrícia
Zen, Tatiana Diehl
Rosa, Rafael Fabiano Machado
da Silva, Juliane Nascimento
Koshiyama, Dayane Bohn
Paskulin, Giorgio Adriano
Zen, Paulo Ricardo Gazzola
author_facet Trevisan, Patrícia
Zen, Tatiana Diehl
Rosa, Rafael Fabiano Machado
da Silva, Juliane Nascimento
Koshiyama, Dayane Bohn
Paskulin, Giorgio Adriano
Zen, Paulo Ricardo Gazzola
author_sort Trevisan, Patrícia
collection PubMed
description BACKGROUND: Chromosomal abnormalities (CAs) are an important cause of congenital heart disease (CHD). OBJECTIVE: Determine the frequency, types and clinical characteristics of CAs identified in a sample of prospective and consecutive patients with CHD. METHOD: Our sample consisted of patients with CHD evaluated during their first hospitalization in a cardiac intensive care unit of a pediatric referral hospital in Southern Brazil. All patients underwent clinical and cytogenetic assessment through high-resolution karyotype. CHDs were classified according to Botto et al. Chi-square, Fisher exact test and odds ratio were used in the statistical analysis (p < 0.05). RESULTS: Our sample consisted of 298 patients, 53.4% males, with age ranging from 1 day to 14 years. CAs were observed in 50 patients (16.8%), and 49 of them were syndromic. As for the CAs, 44 (88%) were numeric (40 patients with +21, 2 with +18, 1 with triple X and one with 45,X) and 6 (12%) structural [2 patients with der(14,21), +21, 1 with i(21q), 1 with dup(17p), 1 with del(6p) and 1 with add(18p)]. The group of CHDs more often associated with CAs was atrioventricular septal defect. CONCLUSIONS: CAs detected through karyotyping are frequent in patients with CHD. Thus, professionals, especially those working in Pediatric Cardiology Services, must be aware of the implications that performing the karyotype can bring to the diagnosis, treatment and prognosis and for genetic counseling of patients and families.
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spelling pubmed-41068072014-07-24 Chromosomal Abnormalities in Patients with Congenital Heart Disease Trevisan, Patrícia Zen, Tatiana Diehl Rosa, Rafael Fabiano Machado da Silva, Juliane Nascimento Koshiyama, Dayane Bohn Paskulin, Giorgio Adriano Zen, Paulo Ricardo Gazzola Arq Bras Cardiol Original Articles BACKGROUND: Chromosomal abnormalities (CAs) are an important cause of congenital heart disease (CHD). OBJECTIVE: Determine the frequency, types and clinical characteristics of CAs identified in a sample of prospective and consecutive patients with CHD. METHOD: Our sample consisted of patients with CHD evaluated during their first hospitalization in a cardiac intensive care unit of a pediatric referral hospital in Southern Brazil. All patients underwent clinical and cytogenetic assessment through high-resolution karyotype. CHDs were classified according to Botto et al. Chi-square, Fisher exact test and odds ratio were used in the statistical analysis (p < 0.05). RESULTS: Our sample consisted of 298 patients, 53.4% males, with age ranging from 1 day to 14 years. CAs were observed in 50 patients (16.8%), and 49 of them were syndromic. As for the CAs, 44 (88%) were numeric (40 patients with +21, 2 with +18, 1 with triple X and one with 45,X) and 6 (12%) structural [2 patients with der(14,21), +21, 1 with i(21q), 1 with dup(17p), 1 with del(6p) and 1 with add(18p)]. The group of CHDs more often associated with CAs was atrioventricular septal defect. CONCLUSIONS: CAs detected through karyotyping are frequent in patients with CHD. Thus, professionals, especially those working in Pediatric Cardiology Services, must be aware of the implications that performing the karyotype can bring to the diagnosis, treatment and prognosis and for genetic counseling of patients and families. Sociedade Brasileira de Cardiologia 2013-12 /pmc/articles/PMC4106807/ /pubmed/24145389 http://dx.doi.org/10.5935/abc.20130204 Text en http://creativecommons.org/licenses/by-nc/3.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Original Articles
Trevisan, Patrícia
Zen, Tatiana Diehl
Rosa, Rafael Fabiano Machado
da Silva, Juliane Nascimento
Koshiyama, Dayane Bohn
Paskulin, Giorgio Adriano
Zen, Paulo Ricardo Gazzola
Chromosomal Abnormalities in Patients with Congenital Heart Disease
title Chromosomal Abnormalities in Patients with Congenital Heart Disease
title_full Chromosomal Abnormalities in Patients with Congenital Heart Disease
title_fullStr Chromosomal Abnormalities in Patients with Congenital Heart Disease
title_full_unstemmed Chromosomal Abnormalities in Patients with Congenital Heart Disease
title_short Chromosomal Abnormalities in Patients with Congenital Heart Disease
title_sort chromosomal abnormalities in patients with congenital heart disease
topic Original Articles
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4106807/
https://www.ncbi.nlm.nih.gov/pubmed/24145389
http://dx.doi.org/10.5935/abc.20130204
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