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1.
Medicine (Baltimore) ; 100(9): e24899, 2021 Mar 05.
Artigo em Inglês | MEDLINE | ID: mdl-33655950

RESUMO

BACKGROUNDS: Many studies have evaluated the effect of maternal fever on the development risk of congenital heart diseases (CHDs) in offspring, but the findings were inconsistent. Furthermore, a complete overview of the existing data was also missing. Therefore, we intend to provide updated epidemiologic evidence to estimate the association between maternal fever and the risk of overall CHDs and specific CHD phenotypes in offspring. METHODS: Pubmed, Embase, and Web of Science were searched through March 2020 to identify eligible studies that assessed the association between maternal fever and CHDs risk in offspring. The summary risk estimates were calculated using random-effects models. Potential heterogeneity source was explored by subgroup analyses and potential publication bias was assessed by Begg funnel plots and Begg rank correlation test. RESULTS: Sixteen studies involving 31,922 CHDs cases among 183,563 participants were included in this meta-analysis. Overall, mothers who had a fever experience during preconception and conception periods had a significantly higher risk of overall CHDs in offspring (odds ratio [OR] = 1.45, 95% confidence interval [CI]: 1.21-1.73) when compared with those who did not have a fever experience. For specific CHD phenotypes in offspring, a statistically significant association was found between maternal fever and risk of conotruncal defects (CTD) (OR = 1.38, 95%CI: 1.01-1.89), atrial septal defects (ASD) (OR = 1.48, 95% CI: 1.01-2.17), transposition of the great vessels (TGA) (OR = 1.81, 95% CI: 1.14-2.88), and right ventricular outflow tract obstruction (RVOTO) (OR = 1.66, 95% CI: 1.04-2.65). Relevant heterogeneity moderators have been identified by subgroup analyses, and sensitivity analyses yielded consistent results. CONCLUSIONS: Although the role of potential bias and evidence of heterogeneity should be carefully evaluated, our review indicates that maternal fever is significantly associated with the risk of CHDs in offspring, which highlights that preventing maternal fever during the preconception and conception periods play an important role in decreasing the risk of CHDs in offspring. However, given the limited number of current case-control studies, larger-sample prospective studies are required to further confirm our results. Besides, due to the underlying mechanisms between maternal fever and the risk of specific CHD phenotypes in offspring are still unreported, more research is needed to explore the possible mechanisms.


Assuntos
Fertilização , Febre/complicações , Cardiopatias Congênitas/etiologia , Estudos Observacionais como Assunto , Complicações na Gravidez , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Medição de Risco/métodos , Feminino , Cardiopatias Congênitas/epidemiologia , Humanos , Mães , Gravidez , Fatores de Risco
2.
PLoS One ; 15(6): e0234357, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32516339

RESUMO

Congenital heart defects (CHDs) affect approximately 1% of newborns. Epidemiological studies have identified several genetically-mediated maternal phenotypes (e.g., pregestational diabetes, chronic hypertension) that are associated with the risk of CHDs in offspring. However, the role of the maternal genome in determining CHD risk has not been defined. We present findings from gene-level, genome-wide studies that link CHDs to maternal effect genes as well as to maternal genes related to hypertension and proteostasis. Maternal effect genes, which provide the mRNAs and proteins in the oocyte that guide early embryonic development before zygotic gene activation, have not previously been implicated in CHD risk. Our findings support a role for and suggest new pathways by which the maternal genome may contribute to the development of CHDs in offspring.


Assuntos
Cardiopatias Congênitas/genética , Herança Materna/genética , Adulto , Estudos de Casos e Controles , Pré-Escolar , Família , Feminino , Testes Genéticos/métodos , Cardiopatias Congênitas/etiologia , Humanos , Hipertensão/genética , Lactente , Recém-Nascido , Masculino , Exposição Materna/efeitos adversos , Pessoa de Meia-Idade , Oócitos/metabolismo , Gravidez , Efeitos Tardios da Exposição Pré-Natal/genética , Proteostase/genética , Fatores de Risco
3.
Nutr Metab Cardiovasc Dis ; 30(6): 977-983, 2020 06 09.
Artigo em Inglês | MEDLINE | ID: mdl-32409273

RESUMO

BACKGROUND AND AIMS: Phenylketonuria (PKU)-affected women may become pregnant, and dietary phenylalanine (Phe) intake must be adjusted according to Phe tolerance. We report our experience with maternal PKU in relation to genotype PKU heterogeneity. METHODS AND RESULTS: A total of 10 pregnancies in 7 PKU women (7 different genotypes) were followed up as part of personalized care. Phe tolerance during preconception and pregnancy was assessed by strict dietary control and weekly Phe measurement (blood spots) in relation to genotype. Most women had stopped PKU diet during childhood or adolescence and six pregnancies were unplanned; a phenylalanine-restricted diet was reinstituted soon after conception. Women were classified according to their Phe levels at birth screening and genotype. Phe tolerance increased systematically in the course of pregnancy in all cases, but the increase was different in subjects with classic PKU (cPKU) when compared with cases with mild hyperphenylalaninemia (mHPA), both on average (+297 mg/day in cPKU vs. 597 in mHPA; P = 0.017) and as percentage (+107% in cPKU vs. +17% in mHPA). Notably, Phe tolerance also varied in the same women in the course of different pregnancies, when body weight gain was also different. Two newborns from the same cPKU mother (unplanned pregnancies on free diet) were affected by congenital alterations. CONCLUSIONS: Several factors influence metabolic phenotype in maternal PKU, to an unpredictable extent even in the same woman. The number of maternal PKU cases is growing in dedicated Nutrition Units, and the burden associated with careful management of this condition for the health care system should be adequately considered.


Assuntos
Dieta com Restrição de Proteínas , Fenilalanina Hidroxilase/genética , Fenilalanina/administração & dosagem , Fenilcetonúria Materna/dietoterapia , Adulto , Feminino , Retardo do Crescimento Fetal/etiologia , Predisposição Genética para Doença , Ganho de Peso na Gestação , Cardiopatias Congênitas/etiologia , Humanos , Nascimento Vivo , Fenótipo , Fenilalanina/efeitos adversos , Fenilalanina Hidroxilase/deficiência , Fenilcetonúria Materna/diagnóstico , Fenilcetonúria Materna/genética , Gravidez , Fatores de Risco , Rim Único/etiologia , Resultado do Tratamento , Adulto Jovem
4.
Adv Exp Med Biol ; 1236: 189-223, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32304074

RESUMO

Congenital heart defects (CHDs) are among the most common human birth defects. However, the etiology of a large proportion of CHDs remains undefined. Studies identifying the molecular and cellular mechanisms that underlie cardiac development have been critical to elucidating the origin of CHDs. Building upon this knowledge to understand the pathogenesis of CHDs requires examining how genetic or environmental stress changes normal cardiac development. Due to strong molecular conservation to humans and unique technical advantages, studies using zebrafish have elucidated both fundamental principles of cardiac development and have been used to create cardiac disease models. In this chapter we examine the unique toolset available to zebrafish researchers and how those tools are used to interrogate the genetic and environmental contributions to CHDs.


Assuntos
Meio Ambiente , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/genética , Peixe-Zebra/genética , Animais , Interação Gene-Ambiente , Coração/embriologia , Cardiopatias Congênitas/embriologia , Cardiopatias Congênitas/patologia , Humanos , Peixe-Zebra/embriologia
5.
Sci Rep ; 10(1): 3905, 2020 03 03.
Artigo em Inglês | MEDLINE | ID: mdl-32127562

RESUMO

Nonhereditary factors play an important role in the occurrence of congenital heart disease (CHD). This study was to explore the possible parental nonhereditary exposure factors relevant to the occurrence of CHD in the northeastern Sichuan area. A total of 367 children with CHD and 367 children without congenital malformations aged 0 to 14 years old were recruited from the Affiliated Hospital of North Sichuan Medical College and Nanchong Central Hospital between March 2016 and November 2018. This study was designed as a case-control study with 1:1 frequency matching, in which the parents of cases and controls were interviewed with the same questionnaire according to the gestational age of the child, maternal age during pregnancy and the same maternal race/ethnicity. Then, 322 matched case-control pairs were analysed by SPSS 22. Thirty-one suspicious factors were entered into the binary logistic regression analysis after univariate regression analysis of 55 factors (alpha = 0.05). The analysis results showed that 7 factors were significantly associated with the occurrence of CHD. Thus, augmenting maternal mental healthcare, improving the quality of drinking water, obtaining adequate nutrition, maintaining a healthy physical condition during pregnancy, enhancing parents' level of knowledge and maintaining a healthy lifestyle may lower the occurrence of CHD.


Assuntos
Cardiopatias Congênitas/etiologia , Exposição Materna/efeitos adversos , Efeitos Tardios da Exposição Pré-Natal/etiologia , Teratogênios/toxicidade , Criança , Pré-Escolar , China , Feminino , Humanos , Lactente , Masculino , Gravidez , Fatores de Risco
6.
Arch Dis Child ; 105(8): 738-743, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32051128

RESUMO

BACKGROUND AND AIMS: Severe congenital heart defects (CHDs) still represent one of the main causes of infant death. The risk factors associated with cardiac surgery and postoperative mortality are well known. We aimed to describe the rates, causes and time trends of mortality before surgery-including termination of pregnancies and palliative care-in fetuses and children below 2 years of age with severe CHDs. METHODS AND RESULTS: Data concerning all 789 345 pregnancies in Norway from 2004 to 2016 were retrieved from the Medical Birth Registry of Norway, the Oslo University Hospital's Clinical Registry for Congenital Heart Defects, the Norwegian Cause of Death Registry, the National Registry, Statistics Norway, autopsy reports and medical records. When including termination of pregnancy and stillbirths, the number of fetuses and children with severe CHDs that did not reach the age of 2 years was 31%. Mortality among the 2359 live-born infants with severe CHDs was 10%, of whom 58% died before surgery. Of the preoperative deaths, 81% died in a palliative care setting, and comorbidity and univentricular CHDs were common among these infants. Together, palliative care and termination of pregnancy accounted for 86% of deaths in cases of severe CHDs, and this proportion increased during the study period (annual percent changes 1.3, 95% CI 0.4 to 2.1, p<0.001), mainly due to an increased termination rate. CONCLUSIONS: Termination of pregnancy accounted for the majority of the deaths in fetuses and children with severe CHDs. Among live-born children, most preoperative deaths occurred in a palliative care setting and were strongly related to comorbidities and/or univentricular hearts.


Assuntos
Aborto Eugênico/estatística & dados numéricos , Cardiopatias Congênitas/mortalidade , Cuidados Paliativos/estatística & dados numéricos , Natimorto/epidemiologia , Procedimentos Cirúrgicos Cardíacos , Feminino , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/terapia , Humanos , Incidência , Recém-Nascido , Masculino , Noruega/epidemiologia , Período Pré-Operatório , Sistema de Registros
7.
Kidney Blood Press Res ; 45(2): 307-313, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32018253

RESUMO

BACKGROUND/AIMS: To investigate the incidence and clinical characteristics of congenital anomalies of the kidney and urinary tract (CAKUT) in children with congenital heart defects (CHD). METHODS: We retrospectively analyzed the clinical data of children with CHD with CAKUT admitted to the Shanghai Children's Medical Center affiliated with the Shanghai Jiao Tong University School of Medicine between September 2018 and March 2019. Patients underwent routine examinations for liver, kidney, and coagulation function, and urinary tract ultrasonography, and we summarized patients' clinical manifestations and imaging abnormalities. RESULTS: A total of 1,410 children with CHD were diagnosed and treated in our hospital. The total number of patients with abnormal urogenital systems was 104, and hydronephrosis was the most common abnormality, followed by vesicoureteral reflux and duplication of the kidney and ureter. The overall prevalence of CAKUT was 7.4%. There was no statistically significant difference for maternal age, sex, parity, gestational age, and history of medication during pregnancy between the patients with CAKUT and those without CAKUT. CONCLUSION: The incidence of CAKUT in our patients with CHD was significantly higher than that in the general population. We recommend urinary ultrasonography as a routine examination for children with CHD for early detection of CAKUT, to avoid missed diagnoses, and to initiate appropriate treatment.


Assuntos
Cardiopatias Congênitas/etiologia , Rim/anormalidades , Sistema Urinário/anormalidades , Criança , Pré-Escolar , Feminino , Cardiopatias Congênitas/patologia , Humanos , Lactente , Recém-Nascido , Masculino
8.
Isr Med Assoc J ; 22(1): 27-31, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31927802

RESUMO

BACKGROUND: Congenital heart defects (CHD) may be associated with neurodevelopmental abnormalities mainly due to brain hypoperfusion. This defect is attributed to the major cardiac operations these children underwent, but also to hemodynamic instability during fetal life. Advances in imaging techniques have identified changes in brain magnetic resonance imaging (MRI)in children with CHD. OBJECTIVES: To examine the correlation between CHD and brain injury using fetal brain MRI. METHODS: We evaluated 46 fetuses diagnosed with CHD who underwent brain MRI. CHD was classified according to in situs anomalies, 4 chamber view (4CV), outflow tracts, arches, and veins as well as cyanotic or complex CHD. We compared MRI results of different classes of CHD and CHD fetuses to a control group of 113 healthy brain MRI examinations. RESULTS: No significant differences were found in brain pathologies among different classifications of CHD. The anteroposterior percentile of the vermis was significantly smaller in fetuses with abnormal 4CV. A significantly higher biparietal diameter was found in fetuses with abnormal arches. A significantly smaller transcerebellar diameter was found in fetuses with abnormal veins. Compared to the control group, significant differences were found in overall brain pathology in cortex abnormalities and in extra axial findings in the study group. Significantly higher rates of overall brain pathologies, ventricle pathologies, cortex pathologies, and biometrical parameters were found in the cyanotic group compared to the complex group and to the control group. CONCLUSIONS: Fetuses with CHD demonstrate findings in brain MRI that suggest an in utero pathogenesis of the neurological and cognitive anomalies found during child development.


Assuntos
Lesões Encefálicas/embriologia , Feto/diagnóstico por imagem , Cardiopatias Congênitas/etiologia , Adulto , Encéfalo/diagnóstico por imagem , Encéfalo/embriologia , Encéfalo/patologia , Lesões Encefálicas/complicações , Lesões Encefálicas/diagnóstico por imagem , Lesões Encefálicas/patologia , Estudos de Casos e Controles , Ecocardiografia , Feminino , Cardiopatias Congênitas/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética , Neuroimagem , Gravidez , Diagnóstico Pré-Natal/métodos
9.
Am J Clin Nutr ; 111(3): 526-535, 2020 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-31942930

RESUMO

BACKGROUND: Prepregnancy diabetes, especially when severely dysregulated, is associated with an increased risk of congenital heart defects in offspring. This suggests that glucose plays a role in embryonic heart development. OBJECTIVE: The aim was to investigate the association between midpregnancy dietary glycemic index (GI), glycemic load (GL), and sugar-sweetened beverages and the risk of congenital heart defects in the offspring. METHODS: Offspring of mothers from the Danish National Birth Cohort who filled out a food-frequency questionnaire (FFQ) covering midpregnancy dietary intake were included. Individual-level information on GI and GL, offspring congenital heart defects, and health and lifestyle covariates was linked. The association between GI and GL and offspring congenital heart defects was estimated by logistic regression. Further, we evaluated whether maternal intake of sugar-sweetened drinks increased the risk of offspring congenital heart defects. RESULTS: In total, 66,387 offspring of women who responded to the FFQ were included; among offspring, 543 had a congenital heart defect. The adjusted OR (aOR) of congenital heart defects among offspring of mothers belonging to the highest versus the lowest GI quintile was 1.02 (95% CI: 0.78, 1.34; P-trend = 0.86). Results were similar for GL (aOR: 0.95; 95% CI: 0.72, 1.24). A high intake of sugar-sweetened carbonated beverages was associated with a statistically significant increased risk of offspring congenital heart defects (highest vs lowest intake-aOR: 2.41; 95% CI: 1.26, 4.64; P-trend = 0.03). No association was found with other types of beverages. CONCLUSIONS: The study does not support an association between a high GI and GL in midpregnancy and increased offspring risk of congenital heart defects. Nevertheless, a statistically significant association between sugar-sweetened carbonated beverages and a moderately increased risk of offspring congenital heart defects was observed.


Assuntos
Diabetes Gestacional/fisiopatologia , Cardiopatias Congênitas/etiologia , Efeitos Tardios da Exposição Pré-Natal/etiologia , Adulto , Idoso , Bebidas/efeitos adversos , Dinamarca/epidemiologia , Diabetes Gestacional/metabolismo , Carboidratos da Dieta/efeitos adversos , Carboidratos da Dieta/metabolismo , Feminino , Índice Glicêmico , Carga Glicêmica , Cardiopatias Congênitas/epidemiologia , Humanos , Masculino , Pessoa de Meia-Idade , Gravidez , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Estudos Prospectivos , Inquéritos e Questionários
11.
Sci Rep ; 9(1): 18072, 2019 12 02.
Artigo em Inglês | MEDLINE | ID: mdl-31792224

RESUMO

Congenital heart malformations occur to substantial number of pregnancies. Studies showed that abnormal flow biomechanical environments could lead to malformations, making it important to understand the biomechanical environment of the developing heart. We performed 4D high-frequency ultrasound scans of chick embryonic hearts at HH25 to study the biomechanics of the whole heart (atria and ventricle). A novel and high-fidelity motion estimation technique, based on temporal motion model and non-rigid image registration algorithm, allowed automatic tracking of fluid-structure boundaries from scan images, and supported flow simulations. Results demonstrated that atrial appendages were the most contractile portion of the atria, having disproportionately high contribution to atrial blood pumping for its volume in the atria. However, the atria played a small role in blood pumping compared to the ventricle, as it had much lower ejection energy expenditure, and as the ventricle appeared to be able to draw inflow from the veins directly during late diastole. Spatially and temporally averaged wall shear stresses (WSS) for various cardiac structures were 0.062-0.068 Pa, but spatial-averaged WSS could be as high as 0.54 Pa in the RV. WSS was especially elevated at the atrial inlet, atrioventricular junction, regions near to the outflow tract, and at dividing lines between the left and right atrium and left and right side of the ventricle, where septation had begun and the lumen had narrowed. Elevated WSS could serve as biomechanics stimulation for proper growth and development.


Assuntos
Apêndice Atrial/embriologia , Ventrículos do Coração/embriologia , Modelos Cardiovasculares , Volume Sistólico/fisiologia , Animais , Apêndice Atrial/diagnóstico por imagem , Embrião de Galinha , Simulação por Computador , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/fisiopatologia , Ventrículos do Coração/diagnóstico por imagem , Humanos , Imageamento Tridimensional , Microscopia Acústica/métodos , Modelos Animais , Resistência ao Cisalhamento , Estresse Mecânico , Ultrassonografia/métodos
12.
Birth Defects Res ; 111(19): 1551-1560, 2019 11 15.
Artigo em Inglês | MEDLINE | ID: mdl-31661193

RESUMO

BACKGROUND: Recently, the use of the antiepileptic drug valproic acid (VPA) for the treatment of psychiatric conditions has been on the rise. However, studies have shown that in utero VPA exposure can affect embryonic development, including being associated with congenital heart defects. One proposed mechanism of VPA-initiated teratogenicity is the inhibition of histone deacetylase, which is involved in the regulation of transcription factors that regulate cardiogenesis. Myocyte enhancing factor 2C (Mef2c), a transcription factor involved in the development of cardiac structure and cardiomyocyte differentiation, has been shown to increase in response to in utero VPA exposure, associating with contractile dysfunction and myocardial disorganization. METHODS: To characterize the effects of VPA on murine heart development, pregnant CD-1 mice were dosed with 400 mg/kg of VPA on gestational day (GD) 9. Using high-resolution ultrasound, we examined the effects of VPA on cardiac contractile function on GD 14-18, with fetal hearts being harvested on GD 19 for histological analysis. Lastly, we conducted quantitative real-time polymerase chain reaction to measure the relative Mef2c gene expression in GD 16 murine hearts. RESULTS: We observed structural anomalies at GD 19 in the hearts of VPA-treated mice. Additionally, our results showed alterations in measures of cardiac contractility, with a decrease or increase in cardiac contractile ability in VPA-treated mice depending on the GD and measurement taken. CONCLUSIONS: These results further characterize the effects of VPA on heart development and suggest that alterations in Mef2c gene expression, at least on GD 16, do not mediate VPA-induced cardiotoxicity in CD-1 mice.


Assuntos
Desenvolvimento Fetal/efeitos dos fármacos , Coração Fetal/efeitos dos fármacos , Ácido Valproico/efeitos adversos , Acetilação , Animais , Diferenciação Celular/efeitos dos fármacos , Desenvolvimento Embrionário/efeitos dos fármacos , Feminino , Regulação da Expressão Gênica no Desenvolvimento/efeitos dos fármacos , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/genética , Fatores de Transcrição MEF2/metabolismo , Masculino , Camundongos , Camundongos Endogâmicos , Miócitos Cardíacos/efeitos dos fármacos , Organogênese/efeitos dos fármacos , Gravidez , Efeitos Tardios da Exposição Pré-Natal , Fatores de Transcrição/metabolismo , Ácido Valproico/metabolismo
13.
Congenit Heart Dis ; 14(6): 1094-1101, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-31573148

RESUMO

OBJECTIVE: The objective of this study was to analyze if the addition of simple cardiac scan in cases with increased nuchal translucency (NT) and/or abnormal ductus venosus (DV) blood flow, and/or tricuspid regurgitation (TCR) can improve detection of congenital heart defects (CHD) in chromosomally normal fetuses without non-cardiac defects at 11-13 + 6 gestational weeks in a population of singleton pregnancies. METHODS: During the 10 years period, all singleton pregnancies at 11-13 + 6 weeks were routinely scanned for NT, DV blood flow and TCR assessment and, if a single of these parameters was abnormal, simple cardiac scan with 2D gray scale and color and/or directional power Doppler in 4-chamber (4-CV) and 3 vessel and trachea views (3VTV) was performed. RESULTS: The sensitivity and specificity of NT ≥ 95th + DV R/A a-wave + TCR in detecting CHD were 77% and 97%, respectively, and of simple cardiac scan, 67% and 98%, respectively. Area under the curve of receiver operating characteristic curve of NT ≥ 95th + DV R/A a-wave + TCR was 0.838, and of NT ≥ 95th + DV R/A a-wave + TCR + simple cardiac scan was 0.915. CONCLUSIONS: In chromosomally normal fetuses without non-cardiac anomalies, addition of simple cardiac scan to the combined first trimester screening parameters improves detection of major CHD during first trimester.


Assuntos
Ecocardiografia Doppler em Cores , Coração Fetal/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Medição da Translucência Nucal , Insuficiência da Valva Tricúspide/diagnóstico por imagem , Ultrassonografia Pré-Natal , Veias Umbilicais/diagnóstico por imagem , Adulto , Velocidade do Fluxo Sanguíneo , Feminino , Coração Fetal/anormalidades , Coração Fetal/fisiopatologia , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/fisiopatologia , Humanos , Valor Preditivo dos Testes , Gravidez , Primeiro Trimestre da Gravidez , Reprodutibilidade dos Testes , Estudos Retrospectivos , Fatores de Risco , Insuficiência da Valva Tricúspide/etiologia , Insuficiência da Valva Tricúspide/fisiopatologia , Veias Umbilicais/fisiopatologia
14.
Am J Med Genet A ; 179(12): 2420-2424, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31588666

RESUMO

The purpose of this article is to describe the prevalence of cardiac disease previously undiagnosed in healthy asymptomatic children and adolescents with Down syndrome (DS). Subjects with DS ages 10-20 years were recruited from two sites, the Children's Hospital of Philadelphia (Philadelphia, PA) and Children's National Health System (Washington, DC) for a cross-sectional study of body composition and cardiometabolic risk. Echocardiographic and clinical data were collected from patients enrolled in the parent study of cardiometabolic risk. Nine (6%) new cardiac diagnoses were identified out of 149 eligible patients. All new findings resulted in outpatient referrals to pediatric cardiology. Current guidelines recommend screening all newborns with DS for congenital heart disease. Older patients with DS may benefit from rescreening.


Assuntos
Síndrome de Down/complicações , Síndrome de Down/epidemiologia , Ecocardiografia , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/etiologia , Adolescente , Adulto , Fatores Etários , Criança , Ética Médica , Feminino , Humanos , Masculino , Prevalência , Adulto Jovem
15.
Am J Hum Biol ; 31(6): e23297, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31321831

RESUMO

OBJECTIVES: There is little evidence on interrelationships between physical activity, sedentary behaviors, and health-related quality of life (HRQOL) among adolescents with congenital heart disease (CHD). We hypothesized that exercise capacity would have a mediating effect on the associations of either physical activity or sedentary behavior with HRQOL. METHODS: Adolescents with complex CHD (n = 111) were consecutively recruited from an outpatient clinic in a general hospital in South Korea. Physical activity and sedentary behavior were assessed using the global physical activity questionnaire. Exercise capacity was directly measured by peak oxygen uptake using a symptom-limited maximal treadmill exercise test. HRQOL was evaluated by both adolescents and their parents using the Pediatric Quality of Life Inventory questionnaire. RESULTS: The self-reported and parent proxy-reported HRQOL were positively associated with physical activity (ß = 0.16, P = .003; ß = 0.12, P = .049) and exercise capacity (ß = 0.63, P < .001; ß = 0.66, P < .001), but not with sedentary behavior in adjusted regression models. When both variables were entered in the same regression models, only exercise capacity remained significantly associated with the self-reported (ß = 0.50, P = .008) and parent proxy-reported HRQOL (ß = 0.62, P = .003). Exercise capacity acted as a full mediator variable on the relationship between physical activity and HRQOL (P < .05 for both). CONCLUSIONS: The present findings suggest that exercise capacity mediates the association between physical activity and HRQOL, highlighting the importance of improving exercise capacity to potentially enhance HRQOL in adolescents with complex CHD.


Assuntos
Tolerância ao Exercício , Exercício Físico , Cardiopatias Congênitas/etiologia , Qualidade de Vida , Comportamento Sedentário , Adolescente , Feminino , Humanos , Masculino , República da Coreia
16.
Environ Int ; 132: 104949, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31327466

RESUMO

BACKGROUND: Preliminary studies suggest that offspring to mothers living near oil and natural gas (O&G) well sites are at higher risk of congenital heart defects (CHDs). OBJECTIVES: Our objective was to address the limitations of previous studies in a new and more robust evaluation of the relationship between maternal proximity to O&G well site activities and births with CHDs. METHODS: We employed a nested case-control study of 3324 infants born in Colorado between 2005 and 2011. 187, 179, 132, and 38 singleton births with an aortic artery and valve (AAVD), pulmonary artery and valve (PAVD), conotruncal (CTD), or tricuspid valve (TVD) defect, respectively, were frequency matched 1:5 to controls on sex, maternal smoking, and race and ethnicity yielding 2860 controls. We estimated monthly intensities of O&G activity at maternal residences from three months prior to conception through the second gestational month with our intensity adjusted inverse distance weighted model. We used logistic regression models adjusted for O&G facilities other than wells, intensity of air pollution sources not associated with O&G activities, maternal age and socioeconomic status index, and infant sex and parity, to evaluate associations between CHDs and O&G activity intensity groups (low, medium, and high). RESULTS: Overall, CHDs were 1.4 (1.0, 2.0) and 1.7 (1.1, 2.6) times more likely than controls in the medium and high intensity groups, respectively, compared to the low intensity group. PAVDs were 1.7 (0.93, 3.0) and 2.5 (1.1, 5.3) times more likely in the medium and high intensity groups for mothers with an address found in the second gestational month. In rural areas, AAVDs, CTDs, and TVDs were 1.8 (0.97, 3.3) and 2.6 (1.1, 6.1); 2.1 (0.96, 4.5) and 4.0 (1.4, 12); and 3.4 (0.95, 12) and 4.6 (0.81, 26) times more likely than controls in the medium and high intensity groups. CONCLUSIONS: This study provides further evidence of a positive association between maternal proximity to O&G well site activities and several types of CHDs, particularly in rural areas.


Assuntos
Poluição do Ar/efeitos adversos , Cardiopatias Congênitas/etiologia , Exposição Materna , Campos de Petróleo e Gás , Adulto , Estudos de Casos e Controles , Colorado , Feminino , Humanos , Lactente , Recém-Nascido , Modelos Logísticos , Masculino , Gravidez , Fatores de Risco
17.
Biomed Res Int ; 2019: 1315796, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31360700

RESUMO

Objective: The exact shape of the dose-response relationship between maternal body mass index (BMI) and the risk of congenital heart defects (CHDs) in infants has not been clearly defined yet. This study aims to further clarify the relationship between maternal obesity and the risk of CHDs in infants by an overall and dose-response meta-analysis. Methods: PubMed, Embase, and Web of Science databases were searched to identify all related studies. The studies were limited to human cohort or case-control studies in English language. Random-effect models and dose-response meta-analysis were used to synthesize the results. Heterogeneity, subgroup analysis, sensitivity analysis, and publication bias were also assessed. Results: Nineteen studies with 2,416,546 participants were included in our meta-analysis. Compared with the mothers with normal weight, the pooled relative risks (RRs) of infants with CHDs were 1.08 (95% CI=1.03-1.13) in overweight and 1.23 (95% CI=1.17-1.29) in obese mothers. According to the findings from the linear meta-analysis, we observed an increased risk of infants with CHDs (RR=1.07, 95% CI=1.06-1.08) for each 5 kg/m2 increase in maternal BMI. A nonlinear relationship between maternal BMI and risk of infants with CHDs was also found (p=0.012). Conclusion: The results from our meta-analysis indicate that increased maternal BMI is related to increased risk of CHDs in infants.


Assuntos
Índice de Massa Corporal , Cardiopatias Congênitas , Obesidade , Complicações na Gravidez , Feminino , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/fisiopatologia , Humanos , Lactente , Recém-Nascido , Obesidade/complicações , Obesidade/epidemiologia , Obesidade/fisiopatologia , Gravidez , Complicações na Gravidez/epidemiologia , Complicações na Gravidez/fisiopatologia , Fatores de Risco
18.
J Pediatr Endocrinol Metab ; 32(8): 797-802, 2019 08 27.
Artigo em Inglês | MEDLINE | ID: mdl-31323007

RESUMO

PHACE syndrome is an uncommon disorder of posterior fossa anomalies, cervicofacial infantile hemangiomas, arterial anomalies, cardiac defects, eye anomalies, and midline/ventral defects. Endocrine abnormalities including hypopituitarism and ectopic thyroid were rarely described. In this article we review occurrence, onset, presenting symptoms, hormonal treatments and outcomes of all endocrine abnormalities in PHACE syndrome. Eleven of 20 (55%) had hypothalamic-pituitary dysfunction and 10 of 20 (50%) had thyroid dysgenesis. A thorough understanding of the endocrine manifestations is important for clinicians to early identify endocrine involvement in PHACE and develop plans for monitoring and treatment of its complications.


Assuntos
Anormalidades Múltiplas/etiologia , Coartação Aórtica/etiologia , Doenças do Sistema Endócrino/complicações , Anormalidades do Olho/etiologia , Síndromes Neurocutâneas/etiologia , Anormalidades Múltiplas/patologia , Coartação Aórtica/patologia , Fossa Craniana Posterior/patologia , Anormalidades do Olho/patologia , Neoplasias Faciais/etiologia , Neoplasias Faciais/patologia , Cardiopatias Congênitas/etiologia , Cardiopatias Congênitas/patologia , Hemangioma/etiologia , Hemangioma/patologia , Humanos , Síndromes Neurocutâneas/patologia , Síndrome
19.
Artigo em Inglês | MEDLINE | ID: mdl-31212780

RESUMO

Caring for children and mothers suffering from cardiac disease is highly challenging, with issues including late diagnosis as well as inadequate infrastructure and supply of drugs. We aimed to evaluate maternal outcomes among pregnant women suffering from heart disease with a live birth, and explored the risk factors for fetal growth restriction among these patients. A retrospective study was performed at the National Hospital of Obstetrics and Gynecology (Hanoi, Vietnam) over a 3-year period from 2014 to 2016. A total of 284 patients were enrolled in the study. Overall, most women were aged below 35 years and were diagnosed with heart disease before pregnancy. Of the women experiencing rheumatic heart disease, the prevalence of mitral valve regurgitation was the highest (40.14%), while the figure for aortic valve regurgitation was the lowest (4.23%). Of women with congenital heart defects, the most common defects were ventricular septal defect (VSD) and atrial septal defect (ASD) (19.37% and 16.55%, respectively), while 5.28% of mothers were diagnosed with tetralogy of Fallot and 1.76% with patent ductus arteriosus. Noted clinical presentations of the patients included palpitation (63.38%), breathlessness (23.59%), leg edema (8.45%), and chest pain (8.1%). The common complications in the study population included 16.90% of women having heart failure and 19.37% having arrhythmias. The incidence of fetal growth restriction was 9.15%. Hypertension (odds ratio (OR): 59.75, 95% confidence interval (CI): 9.1-392.17), the heart disease types (ASD (OR: 4.27, 95% CI: 1.19-15.29) and tetralogy of Fallot (OR: 6.82, 95% CI: 1.21-38.55)), and the complications (heart failure (OR: 10.34, 95% CI: 2.75-38.87) and pulmonary edema (OR: 107.16, 95% CI: 4.96-2313.93)) were observed as risk factors for intrauterine growth restriction. This study provides a cornerstone to promote further studies and to motivate people to apply evidence-based medical care for mothers with diagnosed cardiac disease in the antenatal and postnatal periods.


Assuntos
Desenvolvimento Fetal/fisiologia , Retardo do Crescimento Fetal/etiologia , Cardiopatias Congênitas/etiologia , Mães/estatística & dados numéricos , Complicações Cardiovasculares na Gravidez , Adulto , Feminino , Humanos , Incidência , Recém-Nascido , Masculino , Razão de Chances , Gravidez , Prevalência , Estudos Retrospectivos , Fatores de Risco , Vietnã
20.
J Cell Mol Med ; 23(8): 5553-5565, 2019 08.
Artigo em Inglês | MEDLINE | ID: mdl-31211496

RESUMO

Women with pre-gestational diabetes have a higher risk of producing children with congenital heart defects (CHDs), caused predominantly by hyperglycemia-induced oxidative stress. In this study, we evaluated if exercise during pregnancy could mitigate oxidative stress and reduce the incidence of CHDs in the offspring of diabetic mice. Female mice were treated with streptozotocin to induce pre-gestational diabetes, then mated with healthy males to produce offspring. They were also given access to running wheels 1 week before mating and allowed to exercise voluntarily until E18.5. Heart morphology, gene expression, and oxidative stress were assessed in foetal hearts. Maternal voluntary exercise results in a significantly lower incidence of CHDs from 59.5% to 25%. Additionally, diabetes-induced defects in coronary artery and capillary morphogenesis were also lower with exercise. Myocardial cell proliferation and epithelial-mesenchymal transition at E12.5 was significantly lower with pre-gestational diabetes which was mitigated with maternal exercise. Cardiac gene expression of Notch1, Snail1, Gata4 and Cyclin D1 was significantly higher in the embryos of diabetic mice that exercised compared to the non-exercised group. Furthermore, maternal exercise produced lower reactive oxygen species (ROS) and oxidative stress in the foetal heart. In conclusion, maternal exercise mitigates ROS and oxidative damage in the foetal heart, and results in a lower incidence of CHDs in the offspring of pre-gestational diabetes. Exercise may be an effective intervention to compliment clinical management and further minimize CHD risk in mothers with diabetes.


Assuntos
Diabetes Mellitus Experimental/complicações , Diabetes Gestacional/patologia , Cardiopatias Congênitas/etiologia , Estresse Oxidativo , Condicionamento Físico Animal , Animais , Glicemia/metabolismo , Capilares/anormalidades , Proliferação de Células , Anomalias dos Vasos Coronários/patologia , Embrião de Mamíferos/patologia , Transição Epitelial-Mesenquimal , Feminino , Regulação da Expressão Gênica no Desenvolvimento , Tamanho da Ninhada de Vivíparos , Masculino , Camundongos Endogâmicos C57BL , Óxido Nítrico Sintase Tipo III/metabolismo , Pericárdio/embriologia , Pericárdio/patologia , Fosforilação , Gravidez
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