Congenital heart disease and chromossomopathies detected by the karyotype

Trevisan, Patrícia; Rosa, Rafael Fabiano Machado; Koshiyama, Dayane Bohn; Zen, Tatiana Diehl; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo Gazzola

doi:10.1590/0103-0582201432213213

Cited by 14 publications

(6 citation statements)

References 52 publications

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“…COA is noted to have associated abnormalities prevalence in the range of 20–30% of which Turner and Noonan syndrome were noted to be common occurrences [12, 19, 24]. However, in our analysis, the overall prevalence of NC/GA/S in neonates with COA was 15.6%, with 4% having a diagnosis of Turner syndrome.…”

Section: Commentcontrasting

confidence: 58%

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Prevalence of Noncardiac and Genetic Abnormalities in Neonates Undergoing Cardiac Operations: Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database

Patel

Costello

Backer

et al. 2016

The Annals of Thoracic Surgery

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Background Among congenital heart disease (CHD) patients, the coexistence of non-cardiac congenital anatomic abnormalities (NC), genetic abnormalities (GA), and syndromes (S) may influence therapeutic strategies and outcomes. The appreciated prevalence of these abnormalities has risen, as 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 surgery 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 2010–2013. 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% (2,894/15,376) of operations were performed on neonates with NC/GA/S. Patients with atrioventricular septal defect (212/357, 59.4%), interrupted aortic arch (248/567, 43.7%), truncus arteriosus (204/554, 36.8%), tetralogy of Fallot (417/1383, 30.2%) had the highest prevalence of NC/GA/S abnormalities, whereas those with transposition (111/2778, 4.0%) had the lowest prevalence. The most commonly identified NC/GA/S included: heterotaxy (597/15,376, 3.9%), DiGeorge/22q11 deletion (550/15,376, 3.6%), Down syndrome/trisomy 21 (318/15, 376, 2.1%), intestinal malrotation (220/15,376, 1.4%), and Turner syndrome/45XO (189/15,376, 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.

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Section: Commentcontrasting

confidence: 58%

“…Prior studies have evaluated overall prevalence of extracardiac abnormalities in CHD, with reported estimates in the range of 25–30% [8–12]. More recent meta-analyses and population-based studies have found a prevalence of associated anomalies in the range of 17–28% [13–19]. …”

mentioning

confidence: 99%

Prevalence of Noncardiac and Genetic Abnormalities in Neonates Undergoing Cardiac Operations: Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database

Patel

Costello

Backer

et al. 2016

The Annals of Thoracic Surgery

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“…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.…”

Section: Chromosomal Abnormalities Copy Number Variants and Chdsmentioning

confidence: 99%

Congenital heart diseases: genetics, non-inherited risk factors, and signaling pathways

Suluba

Liu

Xia

et al. 2020

Egypt J Med Hum Genet

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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, cardiacspecific 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.

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“…A importância desse diagnóstico é determinar a etiologia, caso necessário um aconselhamento genético é feito baseado na chance de recorrência da CC. (TREVISAN et al, 2014).…”

Section: Discussionunclassified

A realidade da cardiopatia congenita no Brasil: revisão bibliográfica / The reality of congenital heart disease in Brazil: bibliographic review

Amorim¹,

Filho²,

Fernandes³

et al. 2021

Braz. J. Hea. Rev.

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As cardiopatias congênitas (CC) são malformações anatômicas do coração de difícil diagnóstico pré-natal, bem como complexo tratamento. Estão entre as principais causas de morbimortalidade neonatal com prevalência crescente na população. Devido à escassez de evidências científicas sobre o tema e o difícil acesso ao diagnóstico e tratamento adequado, até mesmo pelos serviços especializados em CC, em 2017 o Plano Nacional de Assistência à Criança com Cardiopatia Congênita foi instituído no SUS. O presente estudo tem como objetivo avaliar o cenário das CC no Brasil. Nesta revisão bibliográfica foram consultadas as bases de dados da Biblioteca Virtual em Saúde (BVSBrasil), com dados dos últimos 20 anos no Brasil, LILACS, MEDLINE, e Scielo e realizou-se uma busca com os descritores "Cardiopathy" AND "Congenital" AND "Acyanotic" ou "Cyanotic" ou "Brazil" no período de 2015-2020. Dos 87 artigos encontrados, 11 cumpriram os critérios de inclusão, sendo, portanto, usados neste trabalho. Os artigos analisados apontam que a realização da educação em saúde continuada pode contribuir para a melhor qualidade de vida e compreensão do paciente e/ou cuidador frente às limitações da CC. Os fatores que apresentaram redução na morbimortalidade foram: o diagnóstico precoce; realização de exames de triagem e/ou imagem; e acompanhamento multidisciplinar. O contexto nacional reflete a subnotificação da incidência de CC, por possíveis dificuldades no seu diagnóstico. Vale ressaltar que o prognóstico do paciente varia de acordo com a estrutura do serviço, acesso aos exames complementares, conhecimento médico especializado e tratamento precoce: clínico, cirúrgico ou endovascular. Torna-se perceptível a necessidade da disseminação da triagem pré e pós-natal, facilidade ao acesso de exames diagnóstico, tratamento adequado, educação continuada da equipe de saúde e cuidadores, assim como a realização de estudos epidemiológicos que contribuam para um efetivo planejamento estratégico em saúde pública.

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Congenital heart disease and chromossomopathies detected by the karyotype

Cited by 14 publications

References 52 publications

Prevalence of Noncardiac and Genetic Abnormalities in Neonates Undergoing Cardiac Operations: Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database

Prevalence of Noncardiac and Genetic Abnormalities in Neonates Undergoing Cardiac Operations: Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database

Congenital heart diseases: genetics, non-inherited risk factors, and signaling pathways

A realidade da cardiopatia congenita no Brasil: revisão bibliográfica / The reality of congenital heart disease in Brazil: bibliographic review

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