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1.
BMJ ; 368: m237, 2020 02 19.
Artigo em Inglês | MEDLINE | ID: mdl-32075794

RESUMO

OBJECTIVE: To evaluate the risk of adverse maternal and infant outcomes following in utero exposure to duloxetine. DESIGN: Cohort study nested in the Medicaid Analytic eXtract for 2004-13. SETTING: Publicly insured pregnancies in the United States. PARTICIPANTS: Pregnant women 18 to 55 years of age and their liveborn infants. INTERVENTIONS: Duloxetine exposure during the etiologically relevant time window, compared with no exposure to duloxetine, exposure to selective serotonin reuptake inhibitors, exposure to venlafaxine, and exposure to duloxetine before but not during pregnancy. MAIN OUTCOME MEASURES: Congenital malformations overall, cardiac malformations, preterm birth, small for gestational age infant, pre-eclampsia, and postpartum hemorrhage. RESULTS: Cohort sizes ranged from 1.3 to 4.1 million, depending on the outcome. The number of women exposed to duloxetine varied by cohort and exposure contrast and was around 2500-3000 for early pregnancy exposure and 900-950 for late pregnancy exposure. The base risk per 1000 unexposed women was 36.6 (95% confidence interval 36.3 to 36.9) for congenital malformations overall, 13.7 (13.5 to 13.9) for cardiovascular malformations, 107.8 (107.3 to 108.3) for preterm birth, 20.4 (20.1 to 20.6) for small for gestational age infant, 33.6 (33.3 to 33.9) for pre-eclampsia, and 23.3 (23.1 to 23.4) for postpartum hemorrhage. After adjustment for measured potential confounding variables, all baseline characteristics were well balanced for all exposure contrasts. In propensity score adjusted analyses versus unexposed pregnancies, the relative risk was 1.11 (95% confidence interval 0.93 to 1.33) for congenital malformations overall and 1.29 (0.99 to 1.68) for cardiovascular malformations. For preterm birth, the relative risk was 1.01 (0.92 to 1.10) for early exposure and 1.19 (1.04 to 1.37) for late exposure. For small for gestational age infants the relative risks were 1.14 (0.92 to 1.41) and 1.20 (0.83 to 1.72) for early and late pregnancy exposure, respectively, and for pre-eclampsia they were 1.12 (0.96 to 1.31) and 1.04 (0.80 to 1.35). The relative risk for postpartum hemorrhage was 1.53 (1.08 to 2.18). Results from sensitivity analyses were generally consistent with the findings from the main analyses. CONCLUSIONS: On the basis of the evidence available to date, duloxetine is unlikely to be a major teratogen but may be associated with an increased risk of postpartum hemorrhage and a small increased risk of cardiac malformations. While continuing to monitor the safety of duloxetine as data accumulate over time, these potential small increases in risk of relatively uncommon outcomes must be weighed against the benefits of treating depression and pain during pregnancy in a given patient. TRIAL REGISTRATION: EUPAS 15946.


Assuntos
Cloridrato de Duloxetina/efeitos adversos , Complicações na Gravidez/tratamento farmacológico , Resultado da Gravidez/epidemiologia , Inibidores da Recaptação de Serotonina e Norepinefrina/efeitos adversos , Anormalidades Induzidas por Medicamentos/epidemiologia , Anormalidades Induzidas por Medicamentos/etiologia , Adolescente , Adulto , Estudos de Coortes , Cloridrato de Duloxetina/uso terapêutico , Feminino , Cardiopatias Congênitas/induzido quimicamente , Cardiopatias Congênitas/epidemiologia , Humanos , Recém-Nascido Pequeno para a Idade Gestacional , Pessoa de Meia-Idade , Hemorragia Pós-Parto/induzido quimicamente , Hemorragia Pós-Parto/epidemiologia , Pré-Eclâmpsia/induzido quimicamente , Gravidez , Complicações na Gravidez/epidemiologia , Nascimento Prematuro/induzido quimicamente , Nascimento Prematuro/epidemiologia , Efeitos Tardios da Exposição Pré-Natal/induzido quimicamente , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Inibidores da Recaptação de Serotonina e Norepinefrina/uso terapêutico , Estados Unidos/epidemiologia , Adulto Jovem
2.
Medicine (Baltimore) ; 99(2): e18539, 2020 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-31914027

RESUMO

The purpose of this study was to determine the factors associated with parenteral nutrition-associated liver disease (PNALD) in infants who underwent surgery for necrotizing enterocolitis (NEC) and followed up the postoperative outcomes for long term parenteral nutrition (PN).This study included a retrospective review of 87 infants with NEC and managed surgically from July 2007 to May 2017 at the Children's Hospital, Chongqing Medical University. Clinical data and procedure information were collected and analyzed.Among the infants included, 16.1% of patients developed PNALD. Multivariable logistic regression analysis revealed progressive clinical deterioration (OR, 5.47; 95% CI, 1.10-26.96; P = .037) was independent risk factor for PNALD whereas congenital heart disease (OR, 0.068; 95% CI, 0.008-0.55; P = .012) presentation served as a protective factor.The current data suggested the distinct disease process for cardiac patients with NEC, which might help in the prevention and treatment of PNALD for patients with NEC.


Assuntos
Enterocolite Necrosante/complicações , Enterocolite Necrosante/cirurgia , Hepatopatias/etiologia , Nutrição Parenteral/efeitos adversos , Enterocolite Necrosante/dietoterapia , Enterocolite Necrosante/mortalidade , Feminino , Idade Gestacional , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/mortalidade , Humanos , Doença Iatrogênica/epidemiologia , Doença Iatrogênica/prevenção & controle , Incidência , Lactente , Recém-Nascido , Hepatopatias/diagnóstico , Hepatopatias/epidemiologia , Masculino , Estudos Retrospectivos , Fatores de Risco
3.
Int Heart J ; 60(5): 1113-1122, 2019 Sep 27.
Artigo em Inglês | MEDLINE | ID: mdl-31484864

RESUMO

Occurring in about 1% of all live births, congenital heart defects (CHDs) represent the most frequent type of developmental abnormality and account for remarkably increased infant morbidity and mortality. Aggregating studies demonstrate that genetic components have a key role in the occurrence of CHDs. Nevertheless, due to pronounced genetic heterogeneity, the genetic causes of CHDs remain unclear in most patients. In this research, 114 unrelated patients affected with CHDs and 218 unrelated individuals without CHDs served as controls were recruited. The coding regions and splicing donors/acceptors of the ISL1 gene, which codes for a transcription factor required for proper cardiovascular development, were screened for mutations by sequencing in all study participants. The functional characteristics of an identified ISL1 mutation were delineated with a dual-luciferase reporter assay system. As a result, a new heterozygous ISL1 mutation, NM_002202.2: c.225C>G; p. (Tyr75*), was discovered in an index patient with double outlet right ventricle and ventricular septal defect. Analysis of the proband's family unveiled that the mutation co-segregated with the CHD phenotype. The nonsense mutation was absent in the 436 control chromosomes. Biological analysis showed that the mutant ISL1 protein had no transcriptional activity. Furthermore, the mutation nullified the synergistic activation between ISL1 and TBX20, another CHD-associated transcription factor. This research for the first time links an ISL1 loss-of-function mutation to double outlet right ventricle in humans, which adds insight to the molecular pathogenesis underpinning CHDs, suggesting potential implications for timely personalized management of CHD patients.


Assuntos
Dupla Via de Saída do Ventrículo Direito/genética , Genes Reporter/genética , Predisposição Genética para Doença/epidemiologia , Proteínas com Homeodomínio LIM/genética , Mutação com Perda de Função/genética , Fatores de Transcrição/genética , Estudos de Casos e Controles , Causalidade , Pré-Escolar , China/epidemiologia , Dupla Via de Saída do Ventrículo Direito/diagnóstico por imagem , Feminino , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/genética , Heterozigoto , Hospitais Universitários , Humanos , Incidência , Lactente , Masculino , Mutação , Linhagem , Prognóstico , Estudos Retrospectivos , Medição de Risco
4.
Genes (Basel) ; 10(9)2019 09 04.
Artigo em Inglês | MEDLINE | ID: mdl-31487937

RESUMO

The aim of this study was to assess the prevalence and type of congenital heart disease (CHD) and the associated mutation spectrum in a large series of patients with neurofibromatosis type 1 (NF1), and correlate the mutation type with the presence and subgroups of cardiac defects. The study cohort included 493 individuals with molecularly confirmed diagnosis of NF1 for whom cardiac evaluation data were available. CHD was reported in 62/493 (12.6%) patients. Among these patients, 23/62 (37.1%) had pulmonary valve stenosis/dysplasia, 20/62 (32.3%) had mitral valve anomalies, and 10/62 (16.1%) had septal defects. Other defects occurred as rare events. In this NF1 subcohort, three subjects carried a whole-gene deletion, while 59 were heterozygous for an intragenic mutation. A significantly increased prevalence of non-truncating intragenic mutations was either observed in individuals with CHD (22/59, 37.3%) or with pulmonary valve stenosis (13/20, 65.0%), when compared to individuals without CHD (89/420, 21.2%) (p = 0.038) or pulmonary valve stenosis (98/459, 21.4%) (p = 0.002). Similarly, patients with non-truncating NF1 mutations displayed two- and six-fold higher risk of developing CHD (odds ratio = 1.9713, 95% confidence interval (CI): 1.1162-3.4814, p = 0.0193) and pulmonary valve stenosis (odds ratio = 6.8411, 95% CI: 2.6574-17.6114, p = 0.0001), respectively. Noteworthy, all but one patient (19/20, 95.0%) with pulmonary valve stenosis, and 18/35 (51.4%) patients with other CHDs displayed Noonan syndrome (NS)-like features. Present data confirm the significant frequency of CHD in patients with NF1, and provide further evidence for a higher than expected prevalence of NF1 in-frame variants and NS-like characteristics in NF1 patients with CHD, particularly with pulmonary valve stenosis.


Assuntos
Cardiopatias Congênitas/genética , Mutação , Neurofibromatose 1/genética , Neurofibromina 1/genética , Adolescente , Adulto , Criança , Pré-Escolar , Feminino , Cardiopatias Congênitas/epidemiologia , Humanos , Lactente , Itália , Masculino , Pessoa de Meia-Idade , Neurofibromatose 1/epidemiologia , Fenótipo , Prevalência
5.
J Thorac Cardiovasc Surg ; 158(5): 1399-1409, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31383559

RESUMO

BACKGROUND: Infective endocarditis (IE) is rare in children. Limited data have been reported on long-term outcomes of children who undergo surgery for IE. METHODS: Data were retrospectively obtained from medical records for all children who underwent surgery for IE. RESULTS: Between 1987 and 2017, 138 children with IE required surgery (mean age, 8.3 ± 6.5 years). The majority of children (80.4% [111 out of 138]) had underlying cardiac structural anomalies. Prior heart surgery was performed in 50.7% of patients (70 out of 138), including 19.6% (27 out of 138) who had valve replacement. Operative mortality was 5.8% (8 out of 138). Mean follow-up time was 9.7 ± 7.6 years. Long-term survival at 5 and 25 years was 91.5% (95% confidence interval, 85.1%-95.2%) and 79.1% (95% confidence interval, 66.3%-87.5%), respectively. Risk factors associated with death were: age (hazard ratio [HR], 0.88; P = .015), prosthetic valve IE (HR, 3.86; P = .02), coagulase-negative staphylococci (HR, 4.52; P = .015), increased duration of preoperative antibiotic therapy (HR, 1.02; P = .009), shock (HR, 3.68; P = .028), and aortic valve replacement (HR, 3.22; P = .044). In patients with left-sided IE, risk factors independently associated with death were heart failure (HR, 18.8; P = .025) and vegetation size adjusted to body surface area (HR, 1.06; P = .008). Freedom from recurrent endocarditis was 94.7% (95% confidence interval, 87.7%-97.8%) at 25 years. CONCLUSIONS: Children undergoing surgery for IE had good long-term survival and recurrence of IE was uncommon. Surgery during the active phase of endocarditis did not increase risk of mortality or reoperation. In patients with left-sided IE, vegetation size adjusted for patient body surface area was identified as a risk factor for death, and a useful indicator of prognosis.


Assuntos
Endocardite , Cardiopatias Congênitas , Doenças das Valvas Cardíacas , Implante de Prótese de Valva Cardíaca , Infecções Estafilocócicas , Adolescente , Antibacterianos/uso terapêutico , Austrália/epidemiologia , Procedimentos Cirúrgicos Cardíacos/efeitos adversos , Procedimentos Cirúrgicos Cardíacos/métodos , Procedimentos Cirúrgicos Cardíacos/estatística & dados numéricos , Criança , Pré-Escolar , Endocardite/diagnóstico , Endocardite/microbiologia , Endocardite/mortalidade , Endocardite/cirurgia , Feminino , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/epidemiologia , Doenças das Valvas Cardíacas/diagnóstico , Doenças das Valvas Cardíacas/epidemiologia , Doenças das Valvas Cardíacas/cirurgia , Próteses Valvulares Cardíacas , Implante de Prótese de Valva Cardíaca/efeitos adversos , Implante de Prótese de Valva Cardíaca/métodos , Humanos , Masculino , Registros Médicos Orientados a Problemas/estatística & dados numéricos , Prognóstico , Fatores de Risco , Infecções Estafilocócicas/diagnóstico , Infecções Estafilocócicas/terapia , Sobreviventes/estatística & dados numéricos
6.
Pediatr Cardiol ; 40(8): 1599-1608, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31463514

RESUMO

Travel distance to surgical centers may be increased when coverage restrictions prevent children with congenital heart disease (CHD) from receiving care at out-of-state congenital heart surgery centers. We estimated the minimum travel distance to congenital heart surgery centers among publicly insured infants with time-sensitive CHD surgical needs, under two different scenarios: if they were and were not restricted to in-state centers. Using 2012 Medicaid Analytic eXtract data from 40 states, we identified 4598 infants with CHD that require surgery in the first year of life. We calculated the minimum travel distance between patients' homes and the nearest cardiac surgery center, assuming patients were and were not restricted to in-state centers. We used linear regression to identify demographic predictors of distance under both scenarios. When patients were not restricted to in-state centers, mean minimum travel distance was 43.7 miles, compared to 54.1 miles when they were restricted. For 5.9% of patients, the difference in travel distance under the two scenarios exceeded 50 miles. In six states, the difference in mean minimum travel distance exceeded 20 miles. Under both scenarios, distance was positively predicted by rural status, residence in middle-income zip codes, and white/non-Hispanic or American Indian/Alaskan Native race/ethnicity. For some publicly insured infants with severe CHD, facilitating the receipt of out-of-state care could mitigate access barriers. Existing efforts to regionalize care at fewer centers should be designed to avoid exacerbating access barriers among publicly insured CHD patients.


Assuntos
Acesso aos Serviços de Saúde/estatística & dados numéricos , Cardiopatias Congênitas/epidemiologia , Criança , Pré-Escolar , Bases de Dados Factuais , Feminino , Acesso aos Serviços de Saúde/legislação & jurisprudência , Disparidades em Assistência à Saúde , Humanos , Lactente , Recém-Nascido , Masculino , Medicaid/estatística & dados numéricos , Viagem , Estados Unidos/epidemiologia
7.
Pediatr Blood Cancer ; 66(11): e27942, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31423753

RESUMO

BACKGROUND: High survival rates of 80-90% have been reported in recent clinical trials of reduced-intensity chemotherapies for children with acute myeloid leukemia and Down syndrome (AML-DS). However, a certain number of children with AML-DS have complicating comorbidities, including congenital heart disease (CHD), and are therefore ineligible for enrolment in clinical trials. METHODS: We retrospectively analyzed the clinical characteristics and outcomes of children with AML-DS who were excluded from Japanese clinical trials conducted between 2000 and 2015. RESULTS: Twelve children (six males and six females) were identified and were ineligible for CHD (n = 8) and other comorbidities, including hyperleukocytosis complicated with coagulopathy, severe hemophagocytosis, pulmonary fibrosis, and hypoxic-ischemic encephalopathy (n = 1 each). The median age at the diagnosis was 14 months (range, 5 months to 11.5 years). Among all cases, 11 patients were treated with curative intent. Four patients were considered intolerant to intensive chemotherapy and received only low-dose cytarabine-based chemotherapy: three failed to achieve remission and died of disease, while one successfully achieved remission but eventually died of infection. Seven cases underwent regular-intensive chemotherapy for AML-DS: six were alive and in remission; one had relapsed disease. One patient who received the best supportive care died of disease. Finally, six patients remained in continuous complete remission, while six died. The 5-year overall survival rate was 51%. CONCLUSIONS: The prognosis of AML-DS patients who received insufficient treatment due to severe complication was poor. The optimal dose intensity of curative chemotherapy for such cases should be explored.


Assuntos
Síndrome de Down/epidemiologia , Leucemia Mieloide Aguda/epidemiologia , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Criança , Pré-Escolar , Ensaios Clínicos como Assunto/normas , Comorbidade , Feminino , Predisposição Genética para Doença , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/genética , Humanos , Hipóxia-Isquemia Encefálica/epidemiologia , Lactente , Estimativa de Kaplan-Meier , Leucemia Mieloide Aguda/tratamento farmacológico , Leucemia Mieloide Aguda/etiologia , Leucemia Mieloide Aguda/genética , Linfo-Histiocitose Hemofagocítica/epidemiologia , Masculino , Seleção de Pacientes , Fibrose Pulmonar/epidemiologia , Estudos Retrospectivos , Falha de Tratamento
8.
Artigo em Inglês | MEDLINE | ID: mdl-31426394

RESUMO

Limited studies investigating the relationships between dietary patterns and congenital heart defects (CHDs) are available. This study aimed to explore the associations between dietary patterns and CHDs risk in Shaanxi, China. We conducted a hospital-based case-control study and included a total of 474 cases and 948 controls. Pregnant women waiting for delivery in the hospital were interviewed to report their diets during pregnancy using a validated food frequency questionnaire. Dietary patterns were derived using principal component factor analysis. Mixed logistic regression models were used to assess the associations between dietary patterns and CHDs. Pregnant women in the highest tertile of the prudent pattern had a lower risk of CHDs compared to those in the lowest tertile (OR = 0.65, 95%CI: 0.48-0.89). Pregnant women with high scores on the vegetarian pattern were at an increased risk of CHDs (medium vs. lowest tertile: OR = 1.50, 95%CI = 1.03-2.17; highest vs. lowest tertile: OR = 1.56, 95%CI = 1.13-2.15; ptrend = 0.015). Pregnant women with high scores on the dairy and egg pattern were at a reduced risk of CHDs (medium vs. lowest tertile: OR = 0.66, 95%CI = 0.49-0.90; highest vs. lowest tertile: OR = 0.60, 95%CI = 0.43-0.82; ptrend = 0.001). Maternal diet during pregnancy is an important target for intervention, and it may influence the likelihood of developing CHDs.


Assuntos
Dieta/estatística & dados numéricos , Cardiopatias Congênitas/epidemiologia , Fenômenos Fisiológicos da Nutrição Pré-Natal , Adulto , Estudos de Casos e Controles , China/epidemiologia , Laticínios , Ovos , Feminino , Humanos , Modelos Logísticos , Saúde Materna , Gravidez , Gestantes , Fatores de Risco , Vegetarianos
9.
Med Clin North Am ; 103(5): 945-956, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31378336

RESUMO

Cardiac defects are the most common congenital defects, accounting for approximately 9 per 1000 births. Patients with structural heart disease related to congenital diseases are prone to develop intrinsic rhythm abnormalities as a result of altered physiology. In addition, they are at an increased risk of developing acquired arrhythmias secondary to the nature of surgical interventions done to improve physiologic function in the setting of these defects. Arrhythmia management and risk stratification pose particularly complex challenges to clinicians managing this population.


Assuntos
Fibrilação Atrial/diagnóstico , Fibrilação Atrial/terapia , Cardiopatias Congênitas/epidemiologia , Fibrilação Atrial/etiologia , Ablação por Cateter , Gerenciamento Clínico , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/fisiopatologia , Humanos , Marca-Passo Artificial
10.
Dan Med J ; 66(6)2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-31256772

RESUMO

INTRODUCTION: The risk of congenital heart defects in the offspring of women with Type 2 diabetes is only sparsely described. The aim of this review was to estimate the prevalence of congenital heart defects in offspring of women with Type 2 diabetes in comparison to offspring of women with Type 1 diabetes and to offspring of the background population. METHODS: This systematic review followed the Preferred Reporting Items for Systematic Reviews and Meta-Analysis (PRISMA) guidelines. A literature search was performed in the PubMed, Embase and Cochrane databases. Studies were included if they were published from 2007 to 2018, comprised a minimum of 200 offspring of women with Type 2 diabetes and examined the prevalence of congenital heart defects. RESULTS: Five cohort studies with a total of 23,845 offspring of women with Type 2 diabetes were included. The studies were heterogeneous with respect to method of diagnosis and whether terminated pregnancies were included, and a meta-analysis could not be performed. The mean prevalence of congenital heart defects was 44 (range: 26-65) per 1,000 offspring. The mean relative risk was 0.82 (range: 0.53-1.01) compared with offspring of women with Type 1 diabetes, and 3.83 (range: 2.53-5.49) compared with the background population. A positive association was described between the prevalence of congenital heart defects and the maternal glycated haemoglobin level, but not with medical treatment. CONCLUSIONS: The risk of congenital heart defects among offspring of women with Type 2 diabetes was comparable to that of offspring of women with Type 1 diabetes and almost four times higher than in the background population.


Assuntos
Diabetes Mellitus Tipo 2/epidemiologia , Cardiopatias Congênitas/epidemiologia , Gravidez em Diabéticas , Diabetes Mellitus Tipo 1/epidemiologia , Feminino , Cardiopatias Congênitas/diagnóstico , Humanos , Gravidez , Prevalência , Fatores de Risco
11.
Cardiol Young ; 29(8): 1072-1077, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31287035

RESUMO

OBJECTIVE: To report on the first 5 years of establishment of fetal echocardiographic services at the Jordan University Hospital with emphasis on diagnosis and outcome. METHODS: A retrospective chart review was conducted on all fetal echocardiographic studies performed between January 2011 and December 2015. Data collected included maternal demographics, referral indications, fetal cardiac diagnosis, correlation to post-natal diagnosis, outcome of pregnancy including pre-mature delivery and perinatal mortality. Basic statistical analysis was performed including demographic analysis, and calculation of fetal echocardiographic sensitivity and specificity. RESULTS: A total of 208 fetuses underwent fetal echocardiographic evaluation at a mean gestational age of 26.5 (±5) weeks. The most common referral indication was a suspicion of CHD during the obstetric ultrasound (44.2%), followed by cardiac dysfunction (18.2%), and a family history of CHD (14.9%). Fetal echocardiography showed CHD in 71 fetuses (34%), heart failure in 26 (12.5%), arrhythmia in 9 (4.3%), and intracardiac masses in 2. In the remaining 100 fetuses (48%), fetal echocardiography showed normal evaluation. For detecting CHD, fetal echocardiography had a sensitivity and specificity of 91.7% and 95.4%, respectively. Perinatal mortality including termination of pregnancy, intrauterine fetal death, and neonatal mortality was highest in heart failure (77%), and was 41% for CHD. CONCLUSION: The fetal cardiac diagnostic services at the Jordan University Hospital have encouraging initial results with a relatively high sensitivity and specificity. The services further positively impacted the quality of counselling offered and facilitated pre- and post-natal management.


Assuntos
Arritmias Cardíacas/diagnóstico , Coração Fetal/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico , Insuficiência Cardíaca/diagnóstico , Nascimento Prematuro/epidemiologia , Adulto , Arritmias Cardíacas/epidemiologia , Países em Desenvolvimento , Ecocardiografia , Feminino , Coração Fetal/anormalidades , Idade Gestacional , Cardiopatias Congênitas/epidemiologia , Insuficiência Cardíaca/epidemiologia , Hospitais Universitários , Humanos , Recém-Nascido , Jordânia/epidemiologia , Masculino , Mortalidade Perinatal , Gravidez , Diagnóstico Pré-Natal/métodos , Estudos Retrospectivos , Sensibilidade e Especificidade , Ultrassonografia Pré-Natal , Adulto Jovem
12.
Cardiol Young ; 29(8): 1040-1044, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31287039

RESUMO

BACKGROUND: Congenital Heart Defects (CHD) are the most common structural defects of newborns. Southern Israel's population is comprised of Jews (75%) and Arab-Bedouins (25%). The latter has a high rate of consanguinity and low abortion rate compared with the Jewish population, which led us to suspect a higher CHD prevalence in this population. Our aim was to compare maternal risk factors that are associated with CHD in these populations. METHODS: All births during 1991-2011 in Soroka University Medical Center (n = 247, 289) with 6078 newborns having CHD were included. To account for same-woman deliveries, general estimating equation models adjusted for ethnicity, gender and birth number were used. RESULTS: The total prevalence of CHD was 24.6/1000 live births, with 21.4 and 30 among Jewish and Bedouin populations, respectively, (p = 0.001). Multi-variant analysis of risk factors for CHD revealed that risk factors common to both populations included conception with fertility medications, sibling CHD, maternal CHD, diabetes mellitus, hypertension and anaemia. Risk factors that were specific for the Bedouin population were - maternal age over 35 years, recurrent pregnancy loss and in vitro fertilisation. However, sibling CHD was more common as a CHD risk factor in the Jewish compared with the Bedouin population (Adjusted OR 10.23 versus 3.19, respectively). CONCLUSIONS: The prevalence of CHD is higher in both the Bedouin and Jewish populations than previously reported. Several maternal factors were associated with CHD specifically for a certain population. Risk factors for CHD vary in populations residing in the same geographic area.


Assuntos
Cardiopatias Congênitas/epidemiologia , Adulto , Anemia/epidemiologia , Árabes , Diabetes Mellitus/epidemiologia , Feminino , Humanos , Hipertensão/epidemiologia , Recém-Nascido , Israel/epidemiologia , Judeus , Modelos Logísticos , Masculino , Idade Materna , Análise Multivariada , População , Gravidez , Prevalência , Fatores de Risco , Irmãos , Adulto Jovem
13.
Nat Commun ; 10(1): 3043, 2019 07 10.
Artigo em Inglês | MEDLINE | ID: mdl-31292440

RESUMO

There are established associations between advanced paternal age and offspring risk for psychiatric and developmental disorders. These are commonly attributed to genetic mutations, especially de novo single nucleotide variants (dnSNVs), that accumulate with increasing paternal age. However, the actual magnitude of risk from such mutations in the male germline is unknown. Quantifying this risk would clarify the clinical significance of delayed paternity. Using parent-child trio whole-exome-sequencing data, we estimate the relationship between paternal-age-related dnSNVs and risk for five disorders: autism spectrum disorder (ASD), congenital heart disease, neurodevelopmental disorders with epilepsy, intellectual disability and schizophrenia (SCZ). Using Danish registry data, we investigate whether epidemiologic associations between each disorder and older fatherhood are consistent with the estimated role of dnSNVs. We find that paternal-age-related dnSNVs confer a small amount of risk for these disorders. For ASD and SCZ, epidemiologic associations with delayed paternity reflect factors that may not increase with age.


Assuntos
Testes Genéticos , Modelos Genéticos , Idade Paterna , Adulto , Fatores Etários , Transtorno do Espectro Autista/epidemiologia , Transtorno do Espectro Autista/genética , Criança , Dinamarca/epidemiologia , Epilepsia/epidemiologia , Epilepsia/genética , Feminino , Cardiopatias Congênitas/epidemiologia , Cardiopatias Congênitas/genética , Humanos , Incidência , Deficiência Intelectual/epidemiologia , Deficiência Intelectual/genética , Masculino , Pessoa de Meia-Idade , Mutação , Polimorfismo de Nucleotídeo Único , Prevalência , Sistema de Registros/estatística & dados numéricos , Medição de Risco/métodos , Esquizofrenia/epidemiologia , Esquizofrenia/genética , Sequenciamento Completo do Exoma
14.
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
15.
Congenit Heart Dis ; 14(5): 752-759, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31361081

RESUMO

BACKGROUND: Follow-up at a regional adult congenital heart disease (ACHD) center is recommended for all ACHD patients at least once per the 2018 ACC/AHA guidelines. Other specialties have demonstrated poorer follow-up and outcomes correlating with increased distance from health care providers, but driving time to regional ACHD centers has not been examined in the US population. OBJECTIVE: To identify and characterize potential disparities in access to ACHD care in the US based on drive time to ACHD centers and compounding sociodemographic factors. METHODS: Mid- to high-volume ACHD centers with ≥500 outpatient ACHD visits and ≥20 ACHD surgeries annually were included based on self-reported, public data. Geographic Information System mapping was used to delineate drive times to ACHD centers. Sociodemographic data from the 2012-2016 American Community Survey (US Census) and the Environmental Systems Research Institute were analyzed based on drive time to nearest ACHD center. Previously established CHD prevalence estimates were used to estimate the similarly located US ACHD population. RESULTS: Nearly half of the continental US population (45.1%) lives >1 hour drive to an ACHD center. Overall, 39.7% live 1-4 hours away, 3.4% live 4-6 hours away, and 2.0% live >6 hours away. Hispanics were disproportionately likely to live a >6 hour drive to a center (p < .001). Compared to people with <1 hour drive, those living >6 hours away have higher proportions of uninsured adults (29% vs. 18%; p < .001), households below the federal poverty level (19% vs. 13%; p < .001), and adults with less than college education (18% vs. 12%; p < .001). CONCLUSIONS: We estimate that ~45% of the continental US population lives >1 hour to an ACHD center, with 5.4% living >4 hours away. Compounding barriers exist for Hispanic, uninsured, lower socioeconomic status, and less-educated patients. These results may help drive future policy changes to improve access to ACHD care.


Assuntos
Acesso aos Serviços de Saúde/estatística & dados numéricos , Disparidades em Assistência à Saúde , Cardiopatias Congênitas/terapia , Hospitais/estatística & dados numéricos , Adulto , Feminino , Seguimentos , Cardiopatias Congênitas/epidemiologia , Humanos , Masculino , Morbidade/tendências , Estudos Retrospectivos , Fatores Socioeconômicos , Estados Unidos/epidemiologia
16.
Environ Int ; 130: 104953, 2019 09.
Artigo em Inglês | MEDLINE | ID: mdl-31272016

RESUMO

BACKGROUND: Cardiovascular malformations account for nearly one-third of all congenital anomalies, making these the most common type of birth defects. Little is known regarding the influence of ambient ultrafine particles (<0.1 µm) (UFPs) on their occurrence. OBJECTIVE: This population-based study examined the association between prenatal exposure to UFPs and congenital heart defects (CHDs). METHODS: A total of 158,743 singleton live births occurring in the City of Toronto, Canada between April 1st 2006 and March 31st 2012 were identified from a birth registry. Associations between exposure to ambient UFPs between the 2nd and 8th week post conception when the foetal heart begins to form and CHDs identified at birth were estimated using random-effects logistic regression models, adjusting for personal- and neighbourhood-level covariates. We also investigated multi-pollutant models accounting for co-exposures to PM2.5, NO2 and O3. RESULTS: A total of 1468 CHDs were identified. In fully adjusted models, UFP exposures during weeks 2 to 8 of pregnancy were not associated with overall CHDs (Odds Ratio (OR) per interquartile (IQR) increase = 1.02, 95% CI: 0.96-1.08). When investigating subtypes of CHDs, UFP exposures were associated with ventricular septal defects (Odds Ratio (OR) per interquartile (IQR) increase = 1.13, 95% CI: 1.03-1.33), but not with atrial septal defect (Odds Ratio (OR) per interquartile (IQR) increase = 0.89, 95% CI: 0.74-1.06). CONCLUSION: This is the first study to evaluate the association between prenatal exposure to UFPs and the risk of CHDs. UFP exposures during a critical period of embryogenesis were associated with an increased risk of ventricular septal defect.


Assuntos
Poluentes Atmosféricos/análise , Cardiopatias Congênitas/epidemiologia , Troca Materno-Fetal , Material Particulado/análise , Adulto , Canadá/epidemiologia , Feminino , Humanos , Recém-Nascido , Modelos Logísticos , Masculino , Dióxido de Nitrogênio/análise , Razão de Chances , Ozônio/análise , Gravidez , Risco , Adulto Jovem
17.
Am J Cardiol ; 124(4): 618-626, 2019 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-31303246

RESUMO

The aim of this study was to estimate the prevalence of the full spectrum of mental illness in adolescents (aged 11 to 17) and adults (aged 18 to 64) with congenital heart defects (CHDs) in the population-level Colorado Congenital Heart Disease Surveillance System. Further we sought to investigate whether severity of the defect, frequency of recent cardiac procedures or underlying genetic disorders influence these estimates. The cohort included patients in clinical care for CHDs between January 1, 2011 and December 31, 2013, identified across multiple healthcare systems and insurance claims. Of 2,192 adolescents with CHDs, 20% were diagnosed with a mental illness with the most prevalent categories being developmental disorders (8%), anxiety disorders (6%), attention, conduct, behavior, impulse control disorders (6%), and mood disorders (5%). Of 6,924 adults with CHDs, 33% were diagnosed with a mental illness with the most prevalent categories being mood disorders (13%), anxiety disorders (13%), and substance-related disorders (6%). Greater lesion complexity was associated with a higher likelihood of anxiety and developmental disorders in both adolescents and adults. Adolescents and adults who had ≥2 cardiac procedures in the 3-year surveillance period had a 3- and 4.5-fold higher likelihood of a mental illness diagnosis, respectively, compared with those who had fewer than 2 cardiac procedures. Finally, patients with a genetic syndrome were more likely to have a mental illness diagnosis. In conclusion, mental illness is a prevalent co-morbidity in the adolescent and adult population with CHDs, thus comprehensive care should include mental health care.


Assuntos
Cardiopatias Congênitas/epidemiologia , Transtornos Mentais/epidemiologia , Adolescente , Adulto , Transtornos de Ansiedade/epidemiologia , Transtornos de Deficit da Atenção e do Comportamento Disruptivo/epidemiologia , Criança , Colorado/epidemiologia , Síndrome de DiGeorge/epidemiologia , Síndrome de Down/epidemiologia , Feminino , Síndrome do Cromossomo X Frágil/epidemiologia , Disgenesia Gonadal/epidemiologia , Humanos , Masculino , Síndrome de Marfan/epidemiologia , Pessoa de Meia-Idade , Transtornos do Humor/epidemiologia , Síndrome de Prader-Willi/epidemiologia , Prevalência , Índice de Gravidade de Doença , Transtornos Relacionados ao Uso de Substâncias/epidemiologia , Adulto Jovem
18.
J Genet ; 98(2)2019 06.
Artigo em Inglês | MEDLINE | ID: mdl-31204705

RESUMO

Hypoplastic right heart syndrome(HRHS) is characterized by hypoplastic right ventricle (RV); Numerous transcriptional cascades in the second heart field (SHF) regulate RVdevelopment. The relationship of SHF gene variants with human HRHS remains unknown. The whole lengths of 17 SHF genes were sequenced in 16 HRHS, and the selected single-nucleotide variants (SNVs) were then genotyped in HRHS, other congenital heart disease (CHD) and healthy control. Luciferase assay was performed to verify the effect of FOXC2: rs34221221A>GandTBX20: rs59854940C>Gat the transcription level. There were 151 (12.86%) novel SNVs after sequence analysis, of which three were in exons (one was synonymous SNV and two were nonsynonymous SNVs), two in promoter, and most SNVs (89.95%) were in intronic regions. Genotype analyses revealed that the minor alleles of FOXC2: rs34221221 A>G and TBX20: rs59854940 C>G could increase HRHS risk (P<0.05), but not in other CHD or healthy control. Luciferase assay showed that the minor G allele in rs34221221 significantly increased FOXC2 transcription while in rs59854940 it decreased TBX20 transcription significantly. Novel variants of SHF gene associated with HRHS were identified. Minor alleles in two variants from FOXC2 and TBX20 could increase the risk of HRHS.


Assuntos
Alelos , Estudos de Associação Genética , Predisposição Genética para Doença , Variação Genética , Cardiopatias Congênitas/diagnóstico , Cardiopatias Congênitas/genética , Biomarcadores , Ecocardiografia , Eletrocardiografia , Elementos Facilitadores Genéticos , Fatores de Transcrição Forkhead/metabolismo , Estudos de Associação Genética/métodos , Testes Genéticos , Genótipo , Cardiopatias Congênitas/epidemiologia , Humanos , Razão de Chances , Reação em Cadeia da Polimerase , Polimorfismo de Nucleotídeo Único , Análise de Sequência de DNA , Proteínas com Domínio T/genética , Transcrição Genética
19.
Am J Cardiol ; 124(4): 613-617, 2019 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-31208700

RESUMO

Although ventricular septal defect (VSD) is a common and simple congenital heart disease in newborns, its true incidence and spontaneous closure (SC) rate remains topics of controversy. This study aims to provide data on the true incidence and SC rate of VSD in the Chinese neonatal population. We conducted a prospective study at 3 hospitals, all newborns underwent echocardiography. Those with a diagnosis of isolated VSD were included in the study group and underwent a 7-year follow-up period. In 6,750 newborns, VSDs were detected in 113 cases (incidence rate of 16.7%), accounting for 62.8% of congenital heart disease, of which 35 were perimembranous (5.2%), 72 were muscular (10.7%), and 6 were doubly committed juxta-arterial (0.9‰). During the 7-year follow-up period, 18 cases required surgical or transcatheter closure. The SC rate in those with perimembranous VSD and muscular VSD (mVSD) were 51.4% (18 of 35) and 97.2% (70 of 72), respectively. Excluding doubly committed juxta-arterial, perimembranous site and defects ≥4 mm are risk factors for VSD that do not spontaneously close. Independent predictive factors for perimembranous VSD which do not spontaneously close is defects ≥4 mm. There was no significant difference in the SC rate at different times between the 4 mVSD sites. In conclusion, this study provides the true incidence and SC rate for Chinese newborns with VSD.


Assuntos
Procedimentos Cirúrgicos Cardíacos/estatística & dados numéricos , Comunicação Interventricular/epidemiologia , Remissão Espontânea , Criança , Pré-Escolar , China/epidemiologia , Ecocardiografia , Feminino , Seguimentos , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/epidemiologia , Comunicação Interventricular/diagnóstico por imagem , Comunicação Interventricular/cirurgia , Humanos , Incidência , Lactente , Recém-Nascido , Masculino , Estudos Prospectivos
20.
Congenit Heart Dis ; 14(5): 735-744, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-31207185

RESUMO

BACKGROUND: The number of women with congenital heart disease (CHD) of reproductive age is increasing, yet a description of trends in pregnancy and delivery outcomes in this population is lacking. OBJECTIVE: To assess secular trends in pregnancy rates, delivery outcomes, and related health care utilization in the adult female CHD population in Quebec, Canada. METHODS: The Quebec CHD database was used to construct a cohort with all women with CHD aged 18-45 years between 1992 and 2004. Pregnancy and delivery rates were determined yearly and compared to the general population. Secular trends in pregnancy and delivery rates were assessed with linear regression. The cesarean delivery rate in the CHD population was compared to the general population. Predictors of cesarean section were determined with multivariable logistic regression. Cox regression, adjusted for comorbidities, was used to analyze the impact of cesarean sections on 1-year health care use following delivery. RESULTS: About 14 878 women were included. A total of 10 809 pregnancies were identified in 5641 women, of whom 4551 (80%) and 2528 (45%) experienced at least one delivery and/or abortion, respectively. Absolute yearly numbers and rates of pregnancies and deliveries increased during the study period (P < .05). The increment in cesarean section rates was more pronounced among women with CHD than among the general population. Gestational diabetes (OR 1.50, 95% CI [1.13, 1.99]), gestational hypertension (OR 1.81, 95% CI [1.27, 2.57]), and preeclampsia (OR 1.59, 95% CI [1.11, 2.8]) were independent predictors of cesarean delivery. Cesarean sections were associated with postpartum cardiac-hospitalization within 1 year following delivery (HR = 2.35, 95% CI [1.05, 5.28]). CONCLUSIONS: Yearly numbers and rates of pregnancies and deliveries in adult females with CHD rose significantly during the study period. Cesarean sections led to increased health care utilization. Further research is required to determine causes of high cesarean section rates in this patient population.


Assuntos
Aborto Espontâneo/epidemiologia , Parto Obstétrico/estatística & dados numéricos , Cardiopatias Congênitas/epidemiologia , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Complicações Cardiovasculares na Gravidez/epidemiologia , Taxa de Gravidez/tendências , Sistema de Registros , Adolescente , Adulto , Feminino , Humanos , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez/epidemiologia , Quebeque/epidemiologia , Adulto Jovem
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