A study to determine the prevalence of pulmonary arterial hypertension in children with Down syndrome and congenital heart disease

Sharma, Monika; Khera, Sanjeev; Sondhi, Vishal; Devgan, Amit

doi:10.1016/j.mjafi.2012.11.013

Cited by 27 publications

(21 citation statements)

References 18 publications

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“…It is well-known that congenital heart defects are more common among children with chromosomal abnormalities. Down syndrome is known to increase the risk of pulmonary hypertension, as well as symptoms of volume overload and heart failure in the presence of shunt defects (27)(28)(29). Chromosomal abnormalities were associated with an increased risk of an early ASD closure in our study, OR = 3.2 (95% CI: 1.4-7.5).…”

Section: Risk Factors For Early Closuresupporting

confidence: 45%

Predictors of the Need for an Atrial Septal Defect Closure at Very Young Age

Tanghöj

Liuba

Sjöberg

et al. 2020

Front. Cardiovasc. Med.

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An asymptomatic Atrial Septal Defect (ASD) is often closed at the age of 3-5 years using a transcatheter or surgical technique. Symptomatic ASD or ASD associated with pulmonary hypertension (PHT) may require earlier closure, particularly in combination with other non-cardiac risk factors for PHT, but the indications for early closure and the potential risk for complications are largely unknown. The aim of this study was to assess risk factors for needing ASD closure during the first and second years of life. This case-control study included all children treated with surgical or percutaneous ASD closure between 2000 and 2014 at two out of three pediatric heart centers in Sweden. "Cases" were children with ASD closure at ≤1 or ≤2 years of age. Clinical data were retrieved from medical journals and national registries. Overall, 413 children were included. Of these, 131 (32%) were ≤2 years, and 50 (12%) were ≤1 year. Risk factors associated with a ≤2 years ASD closure were preterm birth, OR = 2.4 (95% CI: 1.5-3.9); additional chromosomal abnormalities, OR = 3.4 (95% CI: 1.8-6.5); pulmonary hypertension, OR = 5.8 (95% CI: 2.6-12.6); and additional congenital heart defects, OR = 2.6 (95% CI: 1.7-4.1). These risk associations remained after adjustments for confounding factors, such as need for neonatal respiratory support, neonatal pulmonary diseases, neonatal sepsis, additional congenital heart defects (CHD) and chromosomal abnormalities. ASD size:body weight ratio of 2.0, as well as a ratio of 0.8 (upper and lower limit of the ASD size:body weight ratios), was associated with increased risk of an early ASD closure. Risk factors such as very premature birth, very low birth weight, congenital, and chromosomal abnormalities, neonatal pulmonary disease and need for ventilation support, as well as pulmonary hypertension, were associated with very early (<1 year of age) ASD closure. Several independent neonatal risk factors were associated with an increased risk of early ASD closure at 2 and at 1 year of age. An ASD size:body weight ratio is a poor predictor for indications for ASD closure.

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Section: Risk Factors For Early Closuresupporting

confidence: 45%

Predictors of the Need for an Atrial Septal Defect Closure at Very Young Age

Tanghöj

Liuba

Sjöberg

et al. 2020

Front. Cardiovasc. Med.

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“…The increase in PA pressure was not related to increased pulmonary blood flow; instead, an increase in pulmonary vascular resistance was the inciting factor. In a population of children with congenital heart disease, those with DS had a significantly higher mean PA pressure (51 vs 26 mmHg) and rate of PAH (51.4% vs 18.4%) (31). PAH also develops significantly earlier in those with DS (32,33).…”

Section: Pulmonary Hypertensionmentioning

confidence: 96%

Preoperative evaluation and comprehensive risk assessment for children with Down syndrome

Lewanda

Matisoff

Revenis

et al. 2016

Pediatric Anesthesia

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Down syndrome is a common chromosome disorder affecting all body systems. This creates unique physiologic concerns that can affect safety during anesthesia and surgery. Little consensus exists, however, on the best way to evaluate children with Down syndrome in preparation for surgery. We review a number of salient topics affecting these children in the perioperative period, including cervical spine instability, cardiovascular abnormalities, pulmonary hypertension, upper airway obstruction, hematologic disturbances, prematurity, low birth weight, and the use of supplements and alternative therapies. Recommendations include obtaining a complete blood count to detect an increased risk for bleeding or stroke, and cardiology evaluation to identify patients with pulmonary hypertension, as well as undiagnosed or residual heart disease. Pediatric cardiac anesthesiologists and intensivists should be involved as needed. The potential for cervical spine instability should be considered, and the anesthesiologist may wish to have several options available both for the medications and equipment used. The child's family should always be asked if he or she is on any nutritional supplements, as some products marketed to families may have secondary effects such as inhibition of platelet function. Using this evaluation in presurgical planning will allow physicians to better consider the individual circumstances for their patients with Down syndrome. Our goal was to optimize patient safety by choosing the most appropriate setting and perioperative personnel, and to mitigate those risk factors amenable to intervention.

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“…The prevalence of VSDs varies in different studies due presumably to differences in diagnostic methods and age of participants [ 9 – 11 ]. VSDs may also be associated with other structural cardiac defects or syndromes, such as aortic coarctation or interruption, tetralogy of Fallot, univentricular atrioventricular connection and Down syndrome [ 12 , 13 ]. Recently the prevalence of VSDs is increased in newborns due to changes in diagnosis and screening modalities such the use of fetal echocardiography [ 14 , 15 ].…”

Section: Introductionmentioning

confidence: 99%

Characterization of SMAD3 Gene Variants for Possible Roles in Ventricular Septal Defects and Other Congenital Heart Diseases

Zhou

Zhao

et al. 2015

PLoS ONE

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BackgroundNodal/TGF signaling pathway has an important effect at early stages of differentiation of human embryonic stem cells in directing them to develop into different embryonic lineages. SMAD3 is a key intracellular messenger regulating factor in the Nodal/TGF signaling pathway, playing important roles in embryonic and, particularly, cardiovascular system development. The aim of this work was to find evidence on whether SMAD3 variations might be associated with ventricular septal defects (VSD) or other congenital heart diseases (CHD).MethodsWe sequenced the SMAD3 gene for 372 Chinese Han CHD patients including 176 VSD patients and evaluated SNP rs2289263, which is located before the 5’UTR sequence of the gene. The statistical analyses were conducted using Chi-Square Tests as implemented in SPSS (version 13.0). The Hardy-Weinberg equilibrium test of the population was carried out using the online software OEGE.ResultsThree heterozygous variants in SMAD3 gene, rs2289263, rs35874463 and rs17228212, were identified. Statistical analyses showed that the rs2289263 variant located before the 5’UTR sequence of SMAD3 gene was associated with the risk of VSD (P value=0.013 <0.05).ConclusionsThe SNP rs2289263 in the SMAD3 gene is associated with VSD in Chinese Han populations.

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A study to determine the prevalence of pulmonary arterial hypertension in children with Down syndrome and congenital heart disease

Abstract: DS children with CHD have a higher predisposition to develop PAH, and the likelihood is highest with underlying AVSD.

Cited by 27 publications

References 18 publications

Predictors of the Need for an Atrial Septal Defect Closure at Very Young Age

Predictors of the Need for an Atrial Septal Defect Closure at Very Young Age

Preoperative evaluation and comprehensive risk assessment for children with Down syndrome

Characterization of SMAD3 Gene Variants for Possible Roles in Ventricular Septal Defects and Other Congenital Heart Diseases

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