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![Partial karyotype by GTG-banding (trypsin-Giemsa G-band) and ideograms showing, respectively, a Robertsonian translocation between chromosomes 14 and 21 [der(14;21)], one isochromosome of the long arm (q) of chromosome 21 [i(21q)] and one partial interstitial deletion of long arm of chromosome 5 [del(5p)]. The first two forms represent changes associated with Down syndrome, and the third, to the Cri-du-Chat syndrome](profile/Paulo-Zen/publication/264798238/figure/fig2/AS:601625907433538@1520450202966/Partial-karyotype-by-GTG-banding-trypsin-Giemsa-G-band-and-ideograms-showing.png)
Partial karyotype by GTG-banding (trypsin-Giemsa G-band) and ideograms showing, respectively, a Robertsonian translocation between chromosomes 14 and 21 [der(14;21)], one isochromosome of the long arm (q) of chromosome 21 [i(21q)] and one partial interstitial deletion of long arm of chromosome 5 [del(5p)]. The first two forms represent changes associated with Down syndrome, and the third, to the Cri-du-Chat syndrome
Source publication
Objective:
To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype.
Data sources:
Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in...
Context in source publication
Context 1
... one in every 120 newborns (18) . The major chromosomal changes observed are numeric and correspond to the ad- ditional presence or lack of a chromosome. These were the first genetic abnormalities to be described in patients with congenital heart disease (17) and usually account for over 80% of the abnormalities observed (16,19,29,(33)(34)(35)(36)(37)(38)(39)(40)(41)(42) . Among them, stands out the full trisomy of chromosome 21 (+21), the main chromosome constitution observed in individuals with Down syndrome (Figure 1). Another relatively common change was the full trisomy of chromosome 18 (+18), respon- sible for Edwards syndrome. Recurrent, but less frequent abnormalities consisted of full trisomy 13 (Patau syndrome), chromosome X monosomy (Turner syndrome), Klinefelter syndrome, and the triploidy syndrome (16,19,29,(33)(34)(35)(36)(37)(38)(39)(40)(41)(42) (Table 1). A smaller percentage of chromosomal abnormalities ob- served in patients with congenital heart disease consisted of structural abnormalities. The main abnormalities correspond to those with loss (deletion) or gain (duplication) of part of a chromosome. Among them, stand out the deletion of the short arm of chromosome 4 (Wolf-Hirschhorn syndrome) and of chromosome 5 (Cri-du-Chat syndrome). The isochro- mosome of the long arm (chromosome with loss of short arm and duplication of the long arm) of chromosome 21, less common cause of Down syndrome, was also frequently described (16,19,29,(33)(34)(35)(36)(37)(38)(39)(40)(41)(42) (Table 1 and Figure ...
Citations
... Karyotyping and chromosomal microarray (CMA) methods have been used to identify the number of abnormal chromosomes and copy number variants (CMV), respectively [158][159][160]. These methods are used widely for the diagnosis of fetal aneuploidy. ...
Background
Congenital heart diseases (CHDs) are the most common congenital anomalies with an estimated prevalence of 8 in 1000 live births. CHDs occur as a result of abnormal embryogenesis of the heart. Congenital heart diseases are associated with significant mortality and morbidity. The damage of the heart is irreversible due to a lack of regeneration potential, and usually, the patients may require surgical intervention. Studying the developmental biology of the heart is essential not only in understanding the mechanisms and pathogenesis of congenital heart diseases but also in providing us with insight towards developing new preventive and treatment methods.
Main body
The etiology of congenital heart diseases is still elusive. Both genetic and environmental factors have been implicated to play a role in the pathogenesis of the diseases. Recently, cardiac transcription factors, cardiac-specific genes, and signaling pathways, which are responsible for early cardiac morphogenesis have been extensively studied in both human and animal experiments but leave much to be desired. The discovery of novel genetic methods such as next generation sequencing and chromosomal microarrays have led to further study the genes, non-coding RNAs and subtle chromosomal changes, elucidating their implications to the etiology of congenital heart diseases. Studies have also implicated non-hereditary risk factors such as rubella infection, teratogens, maternal age, diabetes mellitus, and abnormal hemodynamics in causing CHDs.
These etiological factors raise questions on multifactorial etiology of CHDs. It is therefore important to endeavor in research based on finding the causes of CHDs. Finding causative factors will enable us to plan intervention strategies and mitigate the consequences associated with CHDs. This review, therefore, puts forward the genetic and non-genetic causes of congenital heart diseases. Besides, it discusses crucial signaling pathways which are involved in early cardiac morphogenesis. Consequently, we aim to consolidate our knowledge on multifactorial causes of CHDs so as to pave a way for further research regarding CHDs.
Conclusion
The multifactorial etiology of congenital heart diseases gives us a challenge to explicitly establishing specific causative factors and therefore plan intervention strategies. More well-designed studies and the use of novel genetic technologies could be the way through the discovery of etiological factors implicated in the pathogenesis of congenital heart diseases.
... This study describes, for the first time, cytogenetic disorders of the area in the northern part of the state of Rio Grande do Sul. High frequencies of Down, Turner, and Edwards Syndromes were observed, similar to what has been described for other Brazilian states (Trevisan et al. 2014b;Bermudez et al. 2015). Based on our results from 26 years of data; only 0.04% of the total inhabitants were successfully analysed from all the studied regions (729/1,746,620) (see Supplementary Table S2). ...
From 1992 to 2018, cytogenetic analyses were successfully performed to explore the chromosomal abnormalities of 729 patients, who utilised a pioneering counselling service in the city of Passo Fundo in the northern part of the Brazilian state of Rio Grande do Sul. This city is characterised by a large conglomerate of private and public hospitals. A classical cytogenetic analysis and G-banding were performed using the patient samples. Although normal karyotypes were observed for 562 of the cases, 167 individuals evidenced chromosomal alterations. Among those, 110 exhibited numerical alterations (65.86%), 41 demonstrated structural modifications (24.55%), and 16 showed both numerical and structural chromosomal changes (9.58%).
This study describes the diversity of the chromosomal alterations in this region, which have not been previously examined. After 26 years of study, we discuss our findings herein in a self-critical form.
... Por otro lado, la proporción de las cardiopatías congénitas asociadas fue menor de lo esperado (30), lo que se explicaría por la exclusión de los pacientes con síndrome de Down (25), el enmascaramiento de malformaciones menores debido a la gravedad, y la necesidad de atención inmediata por parte del personal a cargo (32). Además, se ha establecido que dichas malformaciones menores se ven en menos del 4 % de la población general y que su detección es limitada (33). ...
... Por último, el porcentaje de las cardiopatías congénitas complejas fue menor que el reportado en otros estudios (8,33), lo que se explicaría por la poca detección mediante ecocardiografía (34) debida a las barreras de acceso a este tipo de exámenes y a otros factores sociales determinantes de la salud, por ejemplo, el bajo nivel socioeconómico, la distancia entre el lugar de residencia y los centros de salud y el bajo nivel educativo, los cuales se deben en gran medida la inasistencia a las citas de control prenatal (35). ...
Introducción.
Las cardiopatías congénitas son alteraciones estructurales y funcionales del corazón, del sistema circulatorio y de los grandes vasos, que se desarrollan durante la embriogénesis cardiaca. A nivel mundial, dichos defectos son una causa importante de morbilidad y mortalidad en la población infantil.
Objetivo.
Determinar la prevalencia de cardiopatías congénitas en Bogotá durante el periodo de 2001 a 2014 y evaluar la tendencia en el tiempo.
Materiales y métodos.
Se analizóla informaciónde 405.408 recién nacidos registrados en el Programa de Vigilancia y Seguimiento de Niños con Anomalías Congénitas de la Secretaría de Salud de Bogotá y se calculó la prevalencia de las cardiopatías congénitas mediante un registro diario de nacimientos y su evaluación clínica y paraclínica. Las cardiopatías se clasificaron en aisladas, complejas y asociadas. Se halló la prevalencia por año y se evaluó la mortalidad en las primeras horas de vida.
Resultados.
La prevalencia de cardiopatías congénitas fue de 15,1 por cada 10.000 recién nacidos en todo el período, pero se evidenciaron valores por encima de 20 por 10.000 en los tresaños anteriores. Del total de recién nacidos evaluados, 46 % correspondió al sexo femenino, 53,16 % al sexo masculino y 0,33 % a sexo indeterminado. De los nacidos con malformaciones, 397 cardiopatías se clasificaron como aisladas, 142 se asociaron con otras malformaciones extracardiacas y 74 se consideraron complejas.
Conclusiones.
Las cardiopatías tienen gran impacto en la salud de la población infantil y, aunque la prevalencia es menor que en otros países, ello puede deberse al subregistro a nivel nacional. Se notó un aumento en la prevalencia en los tresaños anteriores, lo cual puede deberse a la implementación de los programas de vigilancia nacional y local. Sugerimos continuar desarrollando programas que incrementen e incentiven la tamización y el registro de estas enfermedades.
... Previous studies have evaluated the overall prevalence of extracardiac abnormalities in CHD, with reported estimates in the range of 25% to 30% [8][9][10][11][12]. More recent meta-analyses and population-based studies have found a prevalence of associated anomalies in the range of 17% to 28% [13][14][15][16][17][18][19]. ...
... COA/aortic arch hypoplasia is noted to have an associated prevalence of abnormalities in the range of 20% to 30%, of which Turner and Noonan syndrome have been noted to be common occurrences [12,19,24]. However, in our analysis, the overall prevalence of NC/GA/S in neonates with COA/aortic arch hypoplasia was 15.6%, with 4% having a diagnosis of Turner syndrome. ...
Background. Among patients with congenital heart disease (CHD), the coexistence of noncardiac congenital anatomic abnormalities (NC), genetic abnormalities (GA),
and syndromes (S) may influence therapeutic strategies and outcomes. The appreciated prevalence of these abnormalities has risen because increased screening and
improved diagnostic precision enable identification of these comorbidities in a larger fraction of neonates with CHD. We examined the contemporary prevalence and distribution of NC/GA/S across diagnostic groups among neonates undergoing cardiac operations using a large
nationally representative clinical registry.
Methods. The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) was queried to identify neonates (£30 days) who underwent index cardiac operations from 2010 to 2013. The fundamental cardiac diagnosis was used to identify 10 diagnostic groups.
The prevalence of NC/GA/S was reported across each group.
Results. The cohort included 15,376 index neonatal operations from 112 centers. Overall, 18.8% (2,894 of 15,376) of operations were performed in neonates with NC/GA/S. Patients with atrioventricular septal defect (212 of 357 [59.4%]), interrupted aortic arch (248 of 567
[43.7%]), truncus arteriosus (204 of 554 [36.8%]), and tetralogy of Fallot (417 of 1,383 [30.2%]) had the highest prevalence of NC/GA/S abnormalities, whereas those with transposition of the great arteries (111 of 2,778 [4.0%]) had the lowest prevalence. The most commonly
identified NC/GA/S included heterotaxy (597 of 15,376 [3.9%]), DiGeorge syndrome or 22q11 deletion (550 of 15,376 [3.6%]), Down syndrome or trisomy 21 (318 of 15, 376 [2.1%]), intestinal malrotation (220 of 15,376 [1.4%]), and Turner syndrome or 45XO (189 of 15,376 [1.2%]).
Conclusions. The prevalence of NC/GA/S varies widely across CHD diagnostic groups. This information may be useful for patient counseling, recommendations for screening for anomalies and genetic disorders, and perioperative management.
... En casos de anormalidades cromosómicas numéricas, como una trisomía total o una monosomía completa, no existe indicación de cariotipo a los padres del sujeto, ya que usualmente son ocasionadas por errores que ocurren durante la gametogénesis 15 . En contraste, en casos de anomalías estructurales como deleciones o duplicación y translocaciones, siempre está indicado el cariotipo a los padres, para descartar la posibilidad de que uno de ellos sea portador de una translocación balanceada que se relacione con el fenotipo del paciente, como en el caso aquí reportado 16 . Además, cuando los productos (abortos, fetos muertos o nacidos vivos) tienen fórmulas cromosómicas con translocaciones balanceadas recíprocas, no recíprocas o robertsonianas, cromosomas en anillo e inversiones, también son indicaciones de cariotipo en los progenitores 17 . ...
Objective:
To report a case with both chromosome abnormalities, and to highlight the importance of the karyotype as a diagnostic tool in dysmorphology.
Clinical case:
The case of is presented of a two month-old infant with several craniofacial anomalies, neck haemangioma, sacral pit, rhizomelic shortening, small hands and feet, left unilateral cryptorchidism, and hypotonia. The infant also suffered intrauterine growth restriction and is the product of the eighth pregnancy of a 28 years old woman. Due to the unspecific findings in phenotype, a karyotype was requested, which showed a partial deletion of 1p36.1 and a partial trisomy of chromosome 6.
Conclusion:
The development of new techniques in molecular biology has improved diagnostic possibilities in medical genetics. However, the traditional karyotype remains as an important diagnostic tool in patients with multiple congenital anomalies.
... Previous studies have evaluated the overall prevalence of extracardiac abnormalities in CHD, with reported estimates in the range of 25% to 30% [8][9][10][11][12]. More recent meta-analyses and population-based studies have found a prevalence of associated anomalies in the range of 17% to 28% [13][14][15][16][17][18][19]. ...
... (AVSD ¼ atrioventricular septal defect; CHARGE, coloboma, heart defect, atresia choanae, retarded growth and development, genital abnormality, and ear abnormality; COA ¼ coarctation of the aorta/aortic arch hypoplasia; DORV ¼ double-outlet right ventricle; HLHS ¼ hypoplastic left heart syndrome; IAA ¼ interrupted aortic arch; SV/Non-HLHS ¼ single ventricle non -hypoplastic left heart syndrome; TA ¼ truncus arteriosus; TAPVC, total anomalous pulmonary venous connection; TGA ¼ transposition of the great arteries; TOF ¼ tetralogy of Fallot; VACTERL ¼ vertebral anomalies, anal atresia, cardiac defects, tracheoesophageal fistula and/or esophageal atresia, renal and radial anomalies and limb defects; WPW ¼ Wolff-Parkinson-White syndrome.) noted to be common occurrences [12,19,24]. However, in our analysis, the overall prevalence of NC/GA/S in neonates with COA/aortic arch hypoplasia was 15.6%, with 4% having a diagnosis of Turner syndrome. ...
Among patients with congenital heart disease (CHD), the coexistence of noncardiac congenital anatomic abnormalities (NC), genetic abnormalities (GA), and syndromes (S) may influence therapeutic strategies and outcomes. The appreciated prevalence of these abnormalities has risen because increased screening and improved diagnostic precision enable identification of these comorbidities in a larger fraction of neonates with CHD. We examined the contemporary prevalence and distribution of NC/GA/S across diagnostic groups among neonates undergoing cardiac operations using a large nationally representative clinical registry.
The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) was queried to identify neonates (≤30 days) who underwent index cardiac operations from 2010 to 2013. The fundamental cardiac diagnosis was used to identify 10 diagnostic groups. The prevalence of NC/GA/S was reported across each group.
The cohort included 15,376 index neonatal operations from 112 centers. Overall, 18.8% (2,894 of 15,376) of operations were performed in neonates with NC/GA/S. Patients with atrioventricular septal defect (212 of 357 [59.4%]), interrupted aortic arch (248 of 567 [43.7%]), truncus arteriosus (204 of 554 [36.8%]), and tetralogy of Fallot (417 of 1,383 [30.2%]) had the highest prevalence of NC/GA/S abnormalities, whereas those with transposition of the great arteries (111 of 2,778 [4.0%]) had the lowest prevalence. The most commonly identified NC/GA/S included heterotaxy (597 of 15,376 [3.9%]), DiGeorge syndrome or 22q11 deletion (550 of 15,376 [3.6%]), Down syndrome or trisomy 21 (318 of 15, 376 [2.1%]), intestinal malrotation (220 of 15,376 [1.4%]), and Turner syndrome or 45XO (189 of 15,376 [1.2%]).
The prevalence of NC/GA/S varies widely across CHD diagnostic groups. This information may be useful for patient counseling, recommendations for screening for anomalies and genetic disorders, and perioperative management.
... Além disso, o cariótipo permanece como uma ferramenta fundamental no momento de avaliar pacientes com malformações cardíacas e de qualquer índole, tendo presente que a necessidade de identificar as malformações fetais e possibilitar a cariotipagem antenatal cresce na medida em que, nas patologias letais, o risco de óbito intrauterino é alto e a autólise muitas vezes torna a necropsia impossível. Isso dificulta o diagnóstico etiológico e prejudica o aconselhamento dos pais sobre os riscos fetais nas futuras gestações 8,26 . ...
OBJETIVO: Descrever a prevalência das malformações encontradas nos fetos com trissomia dos cromossomos 13, 18 e 21, identificando as mais frequentes em cada condição. MÉTODOS: Estudo transversal retrospectivo, com análise dos casos de trissomias dos cromossomos 13, 18 e 21 que foram diagnosticados pelo cariótipo fetal obtido por amniocentese/cordocentese, entre outubro de 1994 e maio de 2014, em um Hospital de Ensino da região Sul do Brasil. Foram descritas as malformações identificadas no exame ultrassonográfico morfológico e, posteriormente, confirmadas em exames do recém-nascido e/ou por necropsia fetal. Os resultados foram analisados por meio do teste de Fisher e da análise de variância (ANOVA). O nível de significância empregado foi 5% (p=0,05). RESULTADOS: Em 840 exames realizados, foram diagnosticados 69 casos de trissomias; nove deles foram excluídos por desfecho ocorrido fora do Hospital de Clínicas de Porto Alegre ou prontuário incompleto, restando 60 casos (nove de trissomia do cromossomo 13, 26 do cromossomo 18 e 25 do cromossomo 21). As cardiopatias ocorreram, na maioria dos casos, nos três grupos; a comunicação interventricular foi mais prevalente, em 66,7% do grupo da trissomia 13. As anomalias gastrintestinais aconteceram mais no grupo da trissomia 18, principalmente a onfalocele (38,5%; p
Proper notification is the first step towards the organization of national surveillance of congenital anomalies. By strengthening our existing system, we will be able to evaluate the real impact of anomalies on populations, in addition to producing useful information to promote prevention and care measures adjusted to the reality of each part of the world. For this, it is essential that professionals and institutions recognize the importance of congenital anomalies in the context of public health and register all those diagnosed at birth in official information systems.
Background:
Congenital heart diseases are the most prevalent congenital malformations and cause greater morbi-mortality in newborns and infants. The aim of this study was to analyze the social determinants in families with children with the severity of congenital heart disease.
Methods:
Analytical cross-sectional study in 140 families of children with congenital heart disease to whom a structured survey was applied addressing topics related to family structure, health, economic conditions, exposure factors, and other social conditions relevant to the study, during 1 year.
Results:
In all, 53.7% of the studied population belonged to low socioeconomic levels. No association was found between the severity of the heart disease and the presence of pathological antecedents in the parents. The families resided in urban areas. Also, 28.3% of the mothers had four or fewer prenatal controls during pregnancy. Only 22% of heart diseases were diagnosed during pregnancy. It was found that exposure to cigarette and wood smoke during pregnancy, in addition to low socioeconomic status, was associated with greater severity of heart disease (RACHS-1 and STS-Score), when evaluated by pathophysiological groups (cyanotic/non-cyanotic/single ventricle).
Conclusions:
Exposure to cigarette smoke, wood smoke during pregnancy, and low socioeconomic status turned out to be social determinants associated with the severity of heart disease analyzed by pathophysiological groups.
Impact:
The social component has not been well characterized as a cause of congenital heart disease, especially in countries like ours, where the existence of gaps and social inequities have a high impact. The findings of this study could have an impact on public health to the extent that policies are implemented to reduce exposure to cigarettes, especially during pregnancy. Knowledge of these changes and their measurement in this type of pathology could open the door to the creation of policies aimed at their prevention, focusing on the local risk factors found, which can impact the disease.
