Incidence of heart defects in Down syndrome

1995 ◽  
Vol 71 (1) ◽  
pp. 28-30 ◽  
Author(s):  
João A Granzotti ◽  
Iara Lúcia do Carmo Paneto ◽  
Fernando TV Amaral ◽  
Marcos A Nunes
Keyword(s):  
Down Syndrome ◽  
Heart Defects

scholarly journals Down syndrome and congenital heart disease: perioperative planning and management

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Dennis R. Delany ◽  
Stephanie S. Gaydos ◽  
Deborah A. Romeo ◽  
Heather T. Henderson ◽  
Kristi L. Fogg ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Cardiac Surgery ◽  
Heart Disease ◽  
Congenital Heart ◽  
Single Ventricle ◽  
Heart Defects ◽  
Careful Consideration ◽  
Children With Down Syndrome ◽  
Perioperative Planning

AbstractApproximately 50% of newborns with Down syndrome have congenital heart disease. Non-cardiac comorbidities may also be present. Many of the principles and strategies of perioperative evaluation and management for patients with congenital heart disease apply to those with Down syndrome. Nevertheless, careful planning for cardiac surgery is required, evaluating for both cardiac and noncardiac disease, with careful consideration of the risk for pulmonary hypertension. In this manuscript, for children with Down syndrome and hemodynamically significant congenital heart disease, we will summarize the epidemiology of heart defects that warrant intervention. We will review perioperative planning for this unique population, including anesthetic considerations, common postoperative issues, nutritional strategies, and discharge planning. Special considerations for single ventricle palliation and heart transplantation evaluation will also be discussed. Overall, the risk of mortality with cardiac surgery in pediatric patients with Down syndrome is no more than the general population, except for those with functional single ventricle heart defects. Underlying comorbidities may contribute to postoperative complications and increased length of stay. A strong understanding of cardiac and non-cardiac considerations in children with Down syndrome will help clinicians optimize perioperative care and long-term outcomes.

scholarly journals Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

2014 ◽  
Vol 32 (2) ◽  
pp. 159-163 ◽  
Author(s):  
Felipe Alves Mourato ◽  
Lúcia Roberta R. Villachan ◽  
Sandra da Silva Mattos
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Down Syndrome ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Heart Defects ◽  
Descriptive Analysis ◽  
Atrioventricular Septal Defect

OBJECTIVE:To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis.METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7.RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age.CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.

Down Syndrome: A Literature Review

2021 ◽  
pp. 328-331
Author(s):  
Rutika, B. Maske
Keyword(s):  
Down Syndrome ◽  
Literature Review ◽  
Congenital Heart ◽  
Literature Search ◽  
Social Cost ◽  
Heart Defects ◽  
Hirschsprung Disease ◽  
Review Article ◽  
Special Focus ◽  
Variable Extent

The purpose of this review is to provide the latest information on Down syndrome. The author conducted a literature search of available sources describing the issue of down syndrome with special focus on syndrome and made a comparison and evaluation of relevant findings.The results of this review indicate that Down syndrome (DS) is one of the commonest disorders with huge medical and social cost. DS is associated with number of phenotypes including congenital heart defects, leukemia, Alzeihmer’s disease, Hirschsprung disease etc. DS individuals are affected by these phenotypes to a variable extent thus understanding the cause of this variation is a key challenge. In the present review article, we emphasize an overview of DS, DS-associated phenotypes diagnosis and management of the disease.

Maternal risk factors for congenital heart defects in infants with Down syndrome from Western Mexico

2019 ◽  
Author(s):  
Jorge Román Corona‐Rivera ◽  
Rafael Nieto‐García ◽  
Andrea S. Gutiérrez‐Chávez ◽  
Lucina Bobadilla‐Morales ◽  
Izabel M. Rios‐Flores ◽  
...  
Keyword(s):  
Risk Factors ◽  
Down Syndrome ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Maternal Risk Factors ◽  
Maternal Risk ◽  
Western Mexico

scholarly journals Infantile Spasms in Children With Down Syndrome: Identification and Treatment Response

2019 ◽  
Vol 6 ◽  
pp. 2333794X1882193 ◽  
Author(s):  
Dee Daniels ◽  
Kelly Knupp ◽  
Tim Benke ◽  
Kristine Wolter-Warmerdam ◽  
Maura Moran ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Adrenocorticotropic Hormone ◽  
Early Recognition ◽  
Heart Defects ◽  
Hormone Treatment ◽  
Magnetic Resonance Images ◽  
Infantile Spasms ◽  
Single Institution ◽  
First Line ◽  
Children With Down Syndrome

Objectives. To evaluate infantile spasms in children with Down syndrome including assessment of efficacy of treatments, presence of treatment lag, and to identify risk factors that may predict the occurrence of infantile spasms in this population. Methods. Medical charts, electroencephalograms, and brain magnetic resonance images were evaluated in 37 children treated for infantile spasms at a single institution from 2005 to 2015. Results. Mean age at diagnosis was 9.16 months, with an average 1.38-month lag from spasms onset to start of medication. Prevalence of heart defects and pulmonary hypertension were significantly higher in those with infantile spams compared with those without. Eighty-one percent receiving adrenocorticotropic hormone as initial treatment experienced remission within 2 weeks, 94.1% had remission at 3 months compared with 18.8% at 2 weeks and 35.3% at 3 months for other first-line treatments. Type of treatment was the only predictor of good outcome. Conclusions. Results stress the importance of early recognition and adrenocorticotropic hormone treatment for this seizure disorder in children with Down syndrome.

scholarly journals Susceptibility to Heart Defects in Down Syndrome Is Associated with Single Nucleotide Polymorphisms in HAS 21 Interferon Receptor Cluster and VEGFA Genes

Genes ◽  
2020 ◽  
Vol 11 (12) ◽  
pp. 1428
Author(s):  
Carmela Rita Balistreri ◽  
Claudia Leonarda Ammoscato ◽  
Letizia Scola ◽  
Tiziana Fragapane ◽  
Rosa Maria Giarratana ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Single Nucleotide Polymorphisms ◽  
Heart Defects ◽  
Chromosome 21 ◽  
Nucleotide Polymorphisms ◽  
Single Nucleotide ◽  
Cardiac Defects ◽  
Risk Alleles ◽  
And Gender ◽  
Heart Disorders

Background: Congenital heart defects (CHDs) are present in about 40–60% of newborns with Down syndrome (DS). Patients with DS can also develop acquired cardiac disorders. Mouse models suggest that a critical 3.7 Mb region located on human chromosome 21 (HSA21) could explain the association with CHDs. This region includes a cluster of genes (IFNAR1, IFNAR2, IFNGR2, IL10RB) encoding for interferon receptors (IFN-Rs). Other genes located on different chromosomes, such as the vascular endothelial growth factor A (VEGFA), have been shown to be involved in cardiac defects. So, we investigated the association between single nucleotide polymorphisms (SNPs) in IFNAR2, IFNGR2, IL10RB and VEGFA genes, and the presence of CHDs or acquired cardiac defects in patients with DS. Methods: Individuals (n = 102) with DS, and age- and gender-matched controls (n = 96), were genotyped for four SNPs (rs2229207, rs2834213, rs2834167 and rs3025039) using KASPar assays. Results: We found that the IFNGR2 rs2834213 G homozygous genotype and IL10RB rs2834167G-positive genotypes were more common in patients with DSand significantly associated with heart disorders, while VEGFA rs3025039T-positive genotypes (T/*) were less prevalent in patients with CHDs. Conclusions: We identified some candidate risk SNPs for CHDs and acquired heart defects in DS. Our data suggest that a complex architecture of risk alleles with interplay effects may contribute to the high variability of DS phenotypes.

Angiogenic Gene Expression in Down Syndrome Fetal Hearts

2015 ◽  
Vol 40 (1) ◽  
pp. 21-27 ◽  
Author(s):  
Olga Sánchez ◽  
Carmen Domínguez ◽  
Aina Ruiz ◽  
Irene Ribera ◽  
Jaume Alijotas ◽  
...  
Keyword(s):  
Gene Expression ◽  
Down Syndrome ◽  
Growth Factor ◽  
Heart Defects ◽  
Hypoxia Inducible Factor ◽  
Transcript Level ◽  
Heart Tissue ◽  
Angiogenic Factors ◽  
Heme Oxygenase 1 ◽  
Endothelial Growth Factor

Introduction: Forty percent of Down syndrome (DS) fetuses have congenital heart defects (CHD). An abnormal angiogenic environment has been described in euploid fetuses with CHD. However, the underlying pathophysiologic pathway that contributes to CHD in DS remains unknown. The objective was to compare the expression of angiogenic factors and chronic hypoxia genes in heart tissue from DS and euploid fetuses with and without CHD. Methods: The gene expression profile was determined by real-time PCR quantification in heart tissue from 33 fetuses with DS, 23 euploid fetuses with CHD and 23 control fetuses. Results: Angiogenic factors mRNA expression was significantly increased in the DS group compared to the controls (soluble fms-like tyrosine kinase-1, 81%, p = 0.007; vascular endothelial growth factor A, 57%, p = 0.006, and placental growth factor, 32%, p = 0.0227). Significant increases in the transcript level of hypoxia-inducible factor-2α and heme oxygenase 1 were also observed in the DS group compared to the controls. The expression of angiogenic factors was similar in DS fetuses and CHD euploid fetuses with CHD. Conclusion: Abnormal angiogenesis was detected in the hearts of DS fetuses with and without CHD. Our results suggest that DS determines an intrinsically angiogenic impairment that may be present in the fetal heart.

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