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1.
Circulation ; 145(5): 345-356, 2022 02.
Artículo en Inglés | MEDLINE | ID: mdl-34865500

RESUMEN

BACKGROUND: Understanding the clinical course and short-term outcomes of suspected myocarditis after the coronavirus disease 2019 (COVID-19) vaccination has important public health implications in the decision to vaccinate youth. METHODS: We retrospectively collected data on patients <21 years old presenting before July 4, 2021, with suspected myocarditis within 30 days of COVID-19 vaccination. Lake Louise criteria were used for cardiac MRI findings. Myocarditis cases were classified as confirmed or probable on the basis of the Centers for Disease Control and Prevention definitions. RESULTS: We report on 139 adolescents and young adults with 140 episodes of suspected myocarditis (49 confirmed, 91 probable) at 26 centers. Most patients were male (n=126, 90.6%) and White (n=92, 66.2%); 29 (20.9%) were Hispanic; and the median age was 15.8 years (range, 12.1-20.3; interquartile range [IQR], 14.5-17.0). Suspected myocarditis occurred in 136 patients (97.8%) after the mRNA vaccine, with 131 (94.2%) after the Pfizer-BioNTech vaccine; 128 (91.4%) occurred after the second dose. Symptoms started at a median of 2 days (range, 0-22; IQR, 1-3) after vaccination. The most common symptom was chest pain (99.3%). Patients were treated with nonsteroidal anti-inflammatory drugs (81.3%), intravenous immunoglobulin (21.6%), glucocorticoids (21.6%), colchicine (7.9%), or no anti-inflammatory therapies (8.6%). Twenty-six patients (18.7%) were in the intensive care unit, 2 were treated with inotropic/vasoactive support, and none required extracorporeal membrane oxygenation or died. Median hospital stay was 2 days (range, 0-10; IQR, 2-3). All patients had elevated troponin I (n=111, 8.12 ng/mL; IQR, 3.50-15.90) or T (n=28, 0.61 ng/mL; IQR, 0.25-1.30); 69.8% had abnormal ECGs and arrhythmias (7 with nonsustained ventricular tachycardia); and 18.7% had left ventricular ejection fraction <55% on echocardiogram. Of 97 patients who underwent cardiac MRI at a median 5 days (range, 0-88; IQR, 3-17) from symptom onset, 75 (77.3%) had abnormal findings: 74 (76.3%) had late gadolinium enhancement, 54 (55.7%) had myocardial edema, and 49 (50.5%) met Lake Louise criteria. Among 26 patients with left ventricular ejection fraction <55% on echocardiogram, all with follow-up had normalized function (n=25). CONCLUSIONS: Most cases of suspected COVID-19 vaccine myocarditis occurring in persons <21 years have a mild clinical course with rapid resolution of symptoms. Abnormal findings on cardiac MRI were frequent. Future studies should evaluate risk factors, mechanisms, and long-term outcomes.


Asunto(s)
Vacunas contra la COVID-19/efectos adversos , COVID-19/prevención & control , Miocarditis/diagnóstico por imagen , Miocarditis/fisiopatología , Adolescente , Niño , Electrocardiografía/métodos , Femenino , Humanos , Imagen por Resonancia Cinemagnética/métodos , Masculino , Miocarditis/sangre , Miocarditis/etiología , Estudios Retrospectivos , Factores de Tiempo , Adulto Joven
2.
J Pediatr Nurs ; 73: e618-e623, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37957083

RESUMEN

PURPOSE: Congenital heart disease affects thousands of newborns each year in the United States. Previous United States-based research has explored how sociodemographic factors may impact health outcomes in infants with congenital heart disease; however, their impact on the incidence of congenital heart disease is unclear. We explored the sociodemographic profile related to congenital heart disease to help address health disparities that arise from race and social determinants of health. Defining the sociodemographic factors associated with congenital heart disease will encourage implementation of potential preventative measures. DESIGN AND METHODS: We conducted a secondary analysis of longitudinally collected data comparing 39 infants with congenital heart disease and 30 healthy controls. We used a questionnaire to collect sociodemographic data. Pearson's chi-square test/Fisher's exact tests analyzed the associations among different sociodemographic factors between infants with congenital heart disease and healthy controls. RESULTS: We found a statistically significant difference in maternal education between our 2 groups of infants (p = 0.004). CONCLUSION: Maternal education was associated with congenital heart disease. Future studies are needed to further characterize sociodemographic factors that may predict and impact the incidence of congenital heart disease and to determine possible interventions that may help decrease health disparities regarding the incidence of congenital heart disease. PRACTICE IMPLICATIONS: Understanding the associations between maternal sociodemographic factors and infant congenital heart disease would allow clinicians to identify mothers at higher risk of having an infant with congenital heart disease.


Asunto(s)
Cardiopatías Congénitas , Lactante , Femenino , Recién Nacido , Humanos , Estados Unidos/epidemiología , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/epidemiología , Madres , Escolaridad , Encuestas y Cuestionarios , Incidencia
4.
J Surg Res ; 280: 273-279, 2022 12.
Artículo en Inglés | MEDLINE | ID: mdl-36030602

RESUMEN

INTRODUCTION: Children with congenital heart disease (CHD) often experience feeding intolerance due to aspiration, inability to tolerate feed volume, or reflux within the first few months of life, requiring a surgically placed gastrostomy tube (GT) for durable enteral access. However, complications such as GT dislodgement, cellulitis, and leakage related to GT use are common. GT-related complications can lead to unscheduled pediatric surgery clinic or emergency room (ER) visits, which can be time consuming for the family and increase overall healthcare costs. We sought to identify factors associated with GT complications within 2 wk after GT surgery and 1-y after discharge home following GT placement in infants with CHD. METHODS: We performed a retrospective cohort study using the Society of Thoracic Surgeons database and electronic medical records from a tertiary children's hospital. We identified infants <1 y old underwent CHD surgery followed by GT surgery between September 2013-August 2018. Demographics, pre-operative feeding regimen, comorbidities, and GT-related utilization were measured. Postoperative GT complications (e.g., GT cellulitis, leakage, dislodgement, obstruction, and granulation tissue) within 2 wk after the GT surgery and an unplanned pediatric surgery clinic or ER visit within 1-y after discharge home were captured. Bivariate comparisons and multivariable logistic regression evaluated factors associated with GT complications and unplanned clinic or ER visits. A Kaplan-Meier failure curve examined the timing of ER/clinic visits. RESULTS: Of 152 infants who underwent CHD then GT surgeries, 66% (N = 101) had postoperative GT complications. Overall, 83 unscheduled clinic visits were identified after discharge, with 37% (N = 31) due to concerns about granulation tissue. Of 137 ER visits, 48% (N = 66) were due to accidental GT dislodgement. Infants who were hospitalized for ≥2 wk after GT surgery had more complications than those discharged home within 2 wk of the GT surgery (40.6% versus 15.7%, P = 0.002). Infants receiving oral nutrition before CHD surgery (38.6% versus 60%, P=<0.001) or with single ventricle defects (19.8% versus 37.3%, P = 0.02) had fewer GT complications. After adjusting for type of cardiac anomaly, infants receiving oral nutrition prior to CHD surgery had a decreased likelihood of GT complications (odds ratio OR 0.46; 95% confidence intervals CI:0.23-0.93). A Kaplan-Meier failure curve demonstrated that 50% of the cohort experienced a complication leading to an unscheduled ER/clinic visit within 6 mo after discharge. CONCLUSIONS: Unplanned visits to the ER or pediatric surgery clinic occur frequently for infants with CHD requiring a surgically placed GT. Oral feedings before cardiac surgery associated with fewer GT complications. Prolonged hospitalization associated with more GT complications. Optimizing outpatient care and family education regarding GT maintenance may reduce unscheduled visits for this high-risk, device-dependent infant population.


Asunto(s)
Gastrostomía , Cardiopatías Congénitas , Humanos , Lactante , Recién Nacido , Niño , Gastrostomía/efectos adversos , Estudios Retrospectivos , Celulitis (Flemón) , Intubación Gastrointestinal/efectos adversos , Cardiopatías Congénitas/cirugía , Cardiopatías Congénitas/complicaciones , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología
5.
Pediatr Cardiol ; 43(7): 1624-1630, 2022 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-35426499

RESUMEN

Congenital heart disease (CHD) is a common birth defect in the United States. CHD infants are more likely to have smaller head circumference and neurodevelopmental delays; however, the cause is unknown. Altered cerebrovascular hemodynamics may contribute to neurologic abnormalities, such as smaller head circumference, thus we created a novel Cerebrovascular Stability Index (CSI), as a surrogate for cerebral autoregulation. We hypothesized that CHD infants would have an association between CSI and head circumference. We performed a prospective, longitudinal study in CHD infants and healthy controls. We measured CSI and head circumference at 4 time points (newborn, 3, 6, 9 months). We calculated CSI by subtracting the average 2-min sitting from supine cerebral oxygenation (rcSO2) over three consecutive tilts (0-90°), then averaged the change score for each age. Linear regressions quantified the relationship between CSI and head circumference. We performed 177 assessments in total (80 healthy controls, 97 CHD infants). The average head circumference was smaller in CHD infants (39.2 cm) compared to healthy controls (41.6 cm) (p < 0.001) and head circumference increased by 0.27 cm as CSI improved in the sample (p = 0.04) overall when combining all time points. Similarly, head circumference increased by 0.32 cm as CSI improved among CHD infants (p = 0.04). We found CSI significantly associated with head circumference in our sample overall and CHD infants alone, which suggests that impaired CSI may affect brain size in CHD infants. Future studies are needed to better understand the mechanism of interaction between CSI and brain growth.


Asunto(s)
Cardiopatías Congénitas , Cabeza , Cardiopatías Congénitas/complicaciones , Hemodinámica , Humanos , Lactante , Recién Nacido , Estudios Longitudinales , Estudios Prospectivos
6.
Cardiol Young ; 32(8): 1261-1267, 2022 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-34588090

RESUMEN

OBJECTIVE: To describe outcomes of acute coronavirus disease 2019 in paediatric and young adult patients with underlying cardiac disease and evaluate the association between cardiac risk factors and hospitalisation. STUDY DESIGN: We conducted a retrospective single-institution review of patients with known cardiac disease and positive severe acute respiratory syndrome coronavirus 2 RT-PCR from 1 March, 2020 to 30 November, 2020. Extracardiac comorbidities and cardiac risk factors were compared between those admitted for coronavirus disease 2019 illness and the rest of the cohort using univariate analysis. RESULTS: Forty-two patients with a mean age of 7.7 ± 6.7 years were identified. Six were 18 years of age or more with the oldest being 22 years of age. Seventy-six percent were Hispanic. The most common cardiac diagnoses were repaired cyanotic (n = 7, 16.6%) and palliated single ventricle (n = 7, 16.6%) congenital heart disease. Fourteen patients (33.3%) had underlying syndromes or chromosomal anomalies, nine (21%) had chronic pulmonary disease and eight (19%) were immunosuppressed. Nineteen patients (47.6%) reported no symptoms. Sixteen (38.1%) reported only mild symptoms. Six patients (14.3%) were admitted to the hospital for acute coronavirus disease 2019 illness. Noncardiac comorbidities were associated with an increased risk of hospitalisation (p = 0.02), particularly chronic pulmonary disease (p = 0.01) and baseline supplemental oxygen requirement (p = 0.007). None of the single ventricle patients who tested positive required admission. CONCLUSIONS: Hospitalisations for coronavirus disease 2019 were rare among children and young adults with underlying cardiac disease. Extracardiac comorbidities like pulmonary disease were associated with increased risk of hospitalisation while cardiac risk factors were not.


Asunto(s)
COVID-19 , Cardiopatías , Adolescente , Adulto , COVID-19/epidemiología , Niño , Preescolar , Cardiopatías/epidemiología , Hospitalización , Humanos , Lactante , Estudios Retrospectivos , SARS-CoV-2 , Adulto Joven
7.
Neonatal Netw ; 41(4): 200-210, 2022 Jul 01.
Artículo en Inglés | MEDLINE | ID: mdl-35840337

RESUMEN

Congenital heart disease (CHD) is one of the most common types of birth defects, with 40,000 newborns diagnosed yearly in the United States. This article describes: (1) four common heart defects seen in neonatal intensive care units, (2) the typical medical/nursing care of these neonates, and (3) common surgical management for the defects. Hypoplastic left heart syndrome, dextro-transposition of the great arteries, tetralogy of Fallot, and pulmonary atresia with intact ventricular septum are four common types of CHD requiring NICU admission. Knowledge of these defects will help nurses to appropriately manage and treat neonates with these types of CHD.


Asunto(s)
Cardiopatías Congénitas , Transposición de los Grandes Vasos , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/cirugía , Humanos , Recién Nacido , Unidades de Cuidado Intensivo Neonatal , Cuidados Preoperatorios
8.
Neonatal Netw ; 40(2): 73-79, 2021 Mar 01.
Artículo en Inglés | MEDLINE | ID: mdl-33731373

RESUMEN

In this review, we describe the near-infrared spectroscopy (NIRS) technology and its clinical use in high-risk neonates in critical care settings. We searched databases (e.g., PubMed, Google Scholar, EBSCOhost) to find studies describing the use of NIRS on critically ill and high-risk neonates. Near-infrared spectroscopy provides continuous noninvasive monitoring of venous oxygen saturation. It uses technology similar to pulse oximetry to measure the oxygen saturation of hemoglobin in a tissue bed to describe the relative delivery and extraction of oxygen. Near-infrared spectroscopy can be a valuable bedside tool to provide clinicians indirect evidence of perfusion. It may prompt early interventions that promote oxygen delivery, which can improve high-risk neonatal outcomes.


Asunto(s)
Oximetría , Espectroscopía Infrarroja Corta , Cuidados Críticos , Humanos , Recién Nacido , Oxígeno
9.
Hum Brain Mapp ; 39(11): 4593-4610, 2018 11.
Artículo en Inglés | MEDLINE | ID: mdl-30076775

RESUMEN

Neonates with complex congenital heart disease (CHD) demonstrate microstructural brain dysmaturation, but the relationship with structural network topology is unknown. We performed diffusion tensor imaging (DTI) in term neonates with CHD preoperatively (N = 61) and postoperatively (N = 50) compared with healthy term controls (N = 91). We used network topology (graph) analyses incorporating different weighted and unweighted approaches and subject-specific white matter segmentation to investigate structural topology differences, as well as a voxel-based analysis (VBA) to confirm the presence of microstructural dysmaturation. We demonstrate cost-dependent network inefficiencies in neonatal CHD in the pre- and postoperative period compared with controls, related to microstructural differences. Controlling for cost, we show the presence of increased small-worldness (hierarchical fiber organization) in CHD infants preoperatively, that persists in the postoperative period compared with controls, suggesting the early presence of brain reorganization. Taken together, topological microstructural dysmaturation in CHD infants is accompanied by hierarchical fiber organization during a protracted critical period of early brain development. Our methodology also provides a pipeline for quantitation of network topology changes in neonates and infants with microstructural brain dysmaturation at risk for perinatal brain injury.


Asunto(s)
Encéfalo/diagnóstico por imagen , Cardiopatías Congénitas/diagnóstico por imagen , Encéfalo/crecimiento & desarrollo , Imagen de Difusión Tensora , Femenino , Cardiopatías Congénitas/cirugía , Humanos , Recién Nacido , Masculino , Vías Nerviosas/diagnóstico por imagen , Vías Nerviosas/crecimiento & desarrollo , Estudios Prospectivos
10.
Prenat Diagn ; 38(13): 1042-1048, 2018 12.
Artículo en Inglés | MEDLINE | ID: mdl-30328635

RESUMEN

OBJECTIVE: Anomalous neurological development associated with congenital heart disease (CHD) has been reported as early as third trimester of fetal development. While several studies have characterized variations in CHD neurodevelopmental outcomes in early childhood, these reports are often confounded by postnatal factors such as surgical outcome. Recent studies have focused on the comparing neurological variations between fetuses with CHD and normal controls. In this work, we present a comparison of in utero variations in brain development between fetuses with different types of CHD, by analyzing them under categories of single ventricle versus biventricular cardiac anatomy. METHODS: Using recent advances in fetal magnetic resonance imaging (MRI), we quantify the volumetric trajectories of various brain tissues (such as cortical plate, developing white matter, cerebrospinal fluid [CSF], and cerebellum). RESULTS: Our study is the first to differentiate between intraventricular and extra-axial CSF thereby allowing us to better identify variations in brain composition of the fetuses. CONCLUSIONS: Overall, our findings show that while total brain volume is similar between fetuses with single and biventricular anatomy, they exhibit statistically significant disparity in brain composition.


Asunto(s)
Encéfalo/diagnóstico por imagen , Feto/diagnóstico por imagen , Cardiopatías Congénitas/diagnóstico por imagen , Encéfalo/anomalías , Encéfalo/embriología , Estudios de Casos y Controles , Cerebelo/anomalías , Cerebelo/diagnóstico por imagen , Cerebelo/embriología , Corteza Cerebral/anomalías , Corteza Cerebral/diagnóstico por imagen , Corteza Cerebral/embriología , Circulación Cerebrovascular , Ventrículo Derecho con Doble Salida/complicaciones , Ventrículo Derecho con Doble Salida/diagnóstico por imagen , Ventrículo Derecho con Doble Salida/fisiopatología , Anomalía de Ebstein/diagnóstico por imagen , Anomalía de Ebstein/fisiopatología , Ecocardiografía , Femenino , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/fisiopatología , Humanos , Síndrome del Corazón Izquierdo Hipoplásico/complicaciones , Síndrome del Corazón Izquierdo Hipoplásico/diagnóstico por imagen , Síndrome del Corazón Izquierdo Hipoplásico/fisiopatología , Imagen por Resonancia Magnética , Circulación Placentaria , Embarazo , Segundo Trimestre del Embarazo , Tercer Trimestre del Embarazo , Ultrasonografía Doppler , Ultrasonografía Prenatal , Sustancia Blanca/anomalías , Sustancia Blanca/diagnóstico por imagen , Sustancia Blanca/embriología
11.
Pediatr Cardiol ; 39(7): 1346-1354, 2018 Oct.
Artículo en Inglés | MEDLINE | ID: mdl-29796693

RESUMEN

The objective of this study is to evaluate neonatal outcomes of total anomalous pulmonary venous return (TAPVR) and identify fetal echocardiography findings associated with preoperative pulmonary venous obstruction (PPVO). This retrospective study evaluated TAPVR cases from 2005 to 2014 for preoperative and postoperative outcomes based on prenatal diagnosis, PPVO, and heterotaxy syndrome. Fetal pulmonary and vertical vein Dopplers were analyzed as predictors of PPVO. Of 137 TAPVR cases, 12% were prenatally diagnosed; 60% had PPVO, and 21% had heterotaxy. Of the prenatally diagnosed patients, 63% also had heterotaxy. TAPVR repair was performed in 135 cases and survival to discharge was 82% (112/137). Heterotaxy was the only independent predictor of mortality on multiple regression analysis [OR 5.5 (CI 1.3-16.7), p = 0.02]. PPVO was associated with preoperative acidosis, need for inhaled nitric oxide, and more emergent surgery, but not postoperative mortality. Fetal vertical vein Doppler peak velocity > 0.74 m/s mmHg predicted PPVO (93% sensitivity; 83% specificity) while pulmonary vein Doppler did not. TAPVR has severe neonatal morbidity and mortality with low prenatal diagnosis rates in the absence of heterotaxy. Patients with obstructed TAPVR had greater preoperative morbidity, but only heterotaxy was independently associated with increased postoperative mortality. Vertical vein velocity helped prenatally identify those at risk of PPVO.


Asunto(s)
Procedimientos Quirúrgicos Cardiovasculares/métodos , Síndrome de Heterotaxia/complicaciones , Enfermedad Veno-Oclusiva Pulmonar/complicaciones , Síndrome de Cimitarra/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Procedimientos Quirúrgicos Cardiovasculares/efectos adversos , Procedimientos Quirúrgicos Cardiovasculares/mortalidad , Ecocardiografía Doppler/métodos , Femenino , Síndrome de Heterotaxia/diagnóstico , Síndrome de Heterotaxia/epidemiología , Humanos , Recién Nacido , Masculino , Complicaciones Posoperatorias/epidemiología , Complicaciones Posoperatorias/etiología , Embarazo , Pronóstico , Circulación Pulmonar , Venas Pulmonares/anomalías , Venas Pulmonares/diagnóstico por imagen , Enfermedad Veno-Oclusiva Pulmonar/diagnóstico por imagen , Enfermedad Veno-Oclusiva Pulmonar/cirugía , Estudios Retrospectivos , Síndrome de Cimitarra/complicaciones , Síndrome de Cimitarra/cirugía , Tasa de Supervivencia , Resultado del Tratamiento
12.
J Pediatr ; 183: 67-73.e1, 2017 04.
Artículo en Inglés | MEDLINE | ID: mdl-28109537

RESUMEN

OBJECTIVE: To determine associations between patient and clinical factors with postnatal brain metabolism in term neonates with congenital heart disease (CHD) via the use of quantitative magnetic resonance spectroscopy. STUDY DESIGN: Neonates with CHD were enrolled prospectively to undergo pre- and postoperative 3T brain magnetic resonance imaging. Short-echo single-voxel magnetic resonance spectroscopy of parietal white matter was used to quantify metabolites related to brain maturation (n-acetyl aspartate, choline, myo- inositol), neurotransmitters (glutamate and gamma-aminobutyric acid), energy metabolism (glutamine, citrate, glucose, and phosphocreatine), and injury/apoptosis (lactate and lipids). Multivariable regression was performed to search for associations between (1) patient-specific/prenatal/preoperative factors with concurrent brain metabolism and (2) intraoperative and postoperative factors with postoperative brain metabolism. RESULTS: A total of 83 magnetic resonance images were obtained on 55 subjects. No patient-specific, prenatal, or preoperative factors associated with concurrent metabolic brain dysmaturation or elevated lactate could be identified. Chromosome 22q11 microdeletion and age at surgery were predictive of altered concurrent white matter phosphocreatine (P < .0055). The only significant intraoperative association found was increased deep hypothermic circulatory arrest time with reduced postoperative white matter glutamate and gamma-aminobutyric acid (P < .0072). Multiple postoperative factors, including increased number of extracorporeal membrane oxygenation days (P < .0067), intensive care unit, length of stay (P < .0047), seizures in the intensive care unit (P < .0009), and home antiepileptic use (P < .0002), were associated with reduced postoperative white matter n-acetyl aspartate. CONCLUSION: Multiple postoperative factors were found to be associated with altered brain metabolism in term infants with CHD, but not patient-specific, preoperative, or intraoperative factors.


Asunto(s)
Encéfalo/metabolismo , Cardiopatías Congénitas/cirugía , Imagen por Resonancia Magnética/métodos , Espectroscopía de Resonancia Magnética/métodos , Ácido Aspártico/análogos & derivados , Ácido Aspártico/metabolismo , Biomarcadores/metabolismo , Peso al Nacer , Encéfalo/diagnóstico por imagen , Estudios de Cohortes , Femenino , Edad Gestacional , Glutamina/metabolismo , Cardiopatías Congénitas/diagnóstico , Cardiopatías Congénitas/mortalidad , Humanos , Recién Nacido , Ácido Láctico/metabolismo , Masculino , Monitoreo Intraoperatorio/métodos , Análisis Multivariante , Fosfocreatina/metabolismo , Cuidados Preoperatorios/métodos , Pronóstico , Estudios Prospectivos , Análisis de Regresión , Medición de Riesgo , Tasa de Supervivencia , Nacimiento a Término , Resultado del Tratamiento
13.
Am J Med Genet A ; 173(1): 114-119, 2017 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-27615053

RESUMEN

Duplication 7q11.23 syndrome is the reciprocal of Williams-Beuren deletion syndrome. Studies have reported a recognizable phenotype, including autism, intellectual disability, speech, and language delay, social anxiety, and behavioral difficulties in these individuals. Previous studies revealed a variety of craniofacial abnormalities, brain malformations, and cardiac abnormalities, including aortic dilation. This patient series evaluates five family members aged 2 months to 35 years, all with confirmed 7q11.23 duplication syndrome. All had characteristic craniofacial findings and joint hyperextensibility, and three experienced broken bones/fractures with minimal trauma. Other features included frequent headaches, sleep problems, hydrocephalus, and in two of the children, mildly dilated aortic root, and ascending aorta. Psychological test results reveal borderline to low average nonverbal cognitive abilities and speech and language delays. All five family members with 7q11.23 syndrome meet criteria for autism spectrum disorder. Adaptive functioning is impaired for all four children, but higher for the children's father. The infant shows developmental delays in language and motor skills, but some improvements in reciprocal social behaviors over time. Two children exhibit hyperactivity and inattention, and the father and second youngest child exhibit anxiety. This family clinical series contributes to the growing literature on the phenotype of 7q11.23 microduplication syndrome across the age range. Physicians are encouraged to urge focused medical surveillance and intensive early intervention targeting speech-language and social reciprocity. © 2016 Wiley Periodicals, Inc.


Asunto(s)
Trastornos de los Cromosomas/diagnóstico , Trastornos de los Cromosomas/genética , Duplicación Cromosómica , Cromosomas Humanos Par 7 , Fenotipo , Cariotipo Anormal , Adolescente , Adulto , Biomarcadores , Niño , Preescolar , Diagnóstico por Imagen , Electroencefalografía , Femenino , Estudios de Asociación Genética , Humanos , Lactante , Masculino , Linaje , Adulto Joven
14.
J Ultrasound Med ; 36(8): 1595-1605, 2017 Aug.
Artículo en Inglés | MEDLINE | ID: mdl-28370096

RESUMEN

OBJECTIVES: To evaluate risk for congenital heart disease (CHD) in recipient twins with circular shunt physiology (CSP). METHODS: This prospective study enrolled twin-twin transfusion syndrome (TTTS) cases from 2006 to 2015. Fetal echocardiography (FE) was performed before laser surgery when cardiac involvement was suspected. Diagnosis of recipient twin CSP required tricuspid and pulmonary regurgitation, right ventricular dysfunction, and flow reversal in the ductus arteriosus. Outcomes were assessed at 30 days after birth. RESULTS: Of the 496 TTTS pregnancies, 20 (4%) met the criteria for CSP. Among those born alive, who had documented cardiac outcomes (n = 457), patients with CSP were more likely to have CHD, specifically right ventricular outflow tract obstruction (5 of 18 [27.8%] versus 22 of 439 [5.0%], odd ratio [OR] 7.29, 95% confidence interval [CI] 2.05-24.72, P = .0025). Of the recipient twins with preoperative FE (n = 259, 52%) who were born alive and had documented cardiac outcomes (n = 242), those with CSP were still more likely to have right ventricular outflow tract obstruction (5 of 18 [27.8%] versus 14 of 224 [6.3%], OR 5.77, CI 1.54-20.92, P = .0077). With both analyses, twins with CSP had higher Quintero stage, but similar patient characteristics and 30-day mortality compared with those without CSP. Subgroup analyses of the CSP cohort identified no differences in preoperative characteristics or FE findings predictive of CHD. CONCLUSIONS: Recipient twins with preoperative CSP were at increased risk for postnatal right ventricular outflow tract obstruction, but appeared to have comparable survival after fetal laser surgery despite these dramatic pathophysiological prenatal findings. Preoperative FE in TTTS remains important for prediction of postnatal CHD.


Asunto(s)
Corazón Fetal/fisiopatología , Transfusión Feto-Fetal/complicaciones , Cardiopatías Congénitas/complicaciones , Terapia por Láser , Cuidados Preoperatorios/métodos , Obstrucción del Flujo Ventricular Externo/complicaciones , Femenino , Cardiopatías Congénitas/fisiopatología , Ventrículos Cardíacos/fisiopatología , Humanos , Recién Nacido , Embarazo , Estudios Prospectivos , Riesgo , Análisis de Supervivencia , Gemelos , Ultrasonografía Prenatal/métodos
15.
Fetal Diagn Ther ; 41(3): 234-236, 2017.
Artículo en Inglés | MEDLINE | ID: mdl-26982014

RESUMEN

Recipients of the twin-twin transfusion syndrome (TTTS) often develop cardiac manifestations, but arterial calcification has rarely been reported. Generalized arterial calcification of infancy (GACI) is a genetic disorder with high infantile mortality. We report the case of a TTTS recipient with moderate cardiomyopathy at diagnosis who developed progressive calcification of the pulmonary arteries and aorta after successful in utero laser therapy. Postnatally, both twins were diagnosed with a heterozygous ABCC6 gene mutation associated with GACI. The recipient had progressive supravalvular pulmonary and aortic stenosis, was treated with bisphosphonate therapy, and successfully underwent cardiac surgery at 4 months of age. The donor twin with the same mutation remained phenotypically normal at 15 months of age. This case illustrates monozygotic fetuses with discordant in utero hemodynamics, with subsequent development of phenotypic differences. TTTS recipients with arterial calcifications should undergo genetic testing for GACI.


Asunto(s)
Transfusión Feto-Fetal/genética , Proteínas Asociadas a Resistencia a Múltiples Medicamentos/genética , Fenotipo , Estenosis de Arteria Pulmonar/genética , Gemelos Monocigóticos/genética , Calcificación Vascular/genética , Adulto , Femenino , Transfusión Feto-Fetal/complicaciones , Transfusión Feto-Fetal/diagnóstico por imagen , Hemodinámica/fisiología , Humanos , Mutación/genética , Embarazo , Estenosis de Arteria Pulmonar/complicaciones , Estenosis de Arteria Pulmonar/diagnóstico por imagen , Calcificación Vascular/complicaciones , Calcificación Vascular/diagnóstico por imagen
16.
J Pediatr ; 178: 141-148.e1, 2016 Nov.
Artículo en Inglés | MEDLINE | ID: mdl-27574995

RESUMEN

OBJECTIVE: To test for associations between abnormal respiratory ciliary motion (CM) and brain abnormalities in infants with congenital heart disease (CHD) STUDY DESIGN: We recruited 35 infants with CHD preoperatively and performed nasal tissue biopsy to assess respiratory CM by videomicroscopy. Cranial ultrasound scan and brain magnetic resonance imaging were obtained pre- and/or postoperatively and systematically reviewed for brain abnormalities. Segmentation was used to quantitate cerebrospinal fluid and regional brain volumes. Perinatal and perioperative clinical variables were collected. RESULTS: A total of 10 (28.5%) patients with CHD had abnormal CM. Abnormal CM was not associated with brain injury but was correlated with increased extraaxial cerebrospinal fluid volume (P < .001), delayed brain maturation (P < .05), and a spectrum of subtle dysplasia including the hippocampus (P < .0078) and olfactory bulb (P < .034). Abnormal CM was associated with higher composite dysplasia score (P < .001), and both were correlated with elevated preoperative serum lactate (P < .001). CONCLUSIONS: Abnormal respiratory CM in infants with CHD is associated with a spectrum of brain dysplasia. These findings suggest that ciliary defects may play a role in brain dysplasia in patients with CHD and have the potential to prognosticate neurodevelopmental risks.


Asunto(s)
Encefalopatías/epidemiología , Encéfalo/patología , Trastornos de la Motilidad Ciliar/complicaciones , Cardiopatías Congénitas/complicaciones , Encéfalo/diagnóstico por imagen , Encefalopatías/complicaciones , Femenino , Humanos , Lactante , Recién Nacido , Imagen por Resonancia Magnética , Masculino , Estudios Prospectivos
17.
Pediatr Cardiol ; 36(5): 960-9, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-25608695

RESUMEN

Preterm birth is associated with alteration in corticothalamic development, which underlies poor neurodevelopmental outcomes. Our hypothesis was that preterm neonates with CHD would demonstrate abnormal thalamic microstructure when compared to critically ill neonates without CHD. A secondary aim was to identify any association between thalamic microstructural abnormalities and perioperative clinical variables. We compared thalamic DTI measurements in 21 preterm neonates with CHD to two cohorts of neonates without CHD: 28 term and 27 preterm neonates, identified from the same neonatal intensive care unit. Comparison was made with three other selected white matter regions using ROI manual-based measurements. Correlation was made with post-conceptional age and perioperative clinical variables. In preterm neonates with CHD, there were age-related differences in thalamic diffusivity (axial and radial) compared to the preterm and term non-CHD group, in contrast to no differences in anisotropy. Contrary to our hypothesis, abnormal thalamic and optic radiation microstructure was most strongly associated with an elevated first arterial blood gas pO2 and elevated preoperative arterial blood gas pH (p < 0.05). Age-related thalamic microstructural abnormalities were observed in preterm neonates with CHD. Perinatal hyperoxemia and increased perioperative serum pH were associated with abnormal thalamic microstructure in preterm neonates with CHD. This study emphasizes the vulnerability of thalamocortical development in the preterm neonate with CHD.


Asunto(s)
Encéfalo/crecimiento & desarrollo , Cardiopatías Congénitas/patología , Recien Nacido Prematuro/crecimiento & desarrollo , Tálamo/patología , Equilibrio Ácido-Base/fisiología , Factores de Edad , Análisis de los Gases de la Sangre , Estudios de Casos y Controles , Femenino , Cardiopatías Congénitas/sangre , Humanos , Recién Nacido , Masculino , Oxígeno/sangre , Sustancia Blanca/patología
18.
Prenat Diagn ; 34(5): 445-9, 2014 May.
Artículo en Inglés | MEDLINE | ID: mdl-24496858

RESUMEN

OBJECTIVES: We compared the proportion of conception with and without in vitro fertilization (IVF) in fetuses with and without congenital heart disease (CHD). METHODS: This was a retrospective review of fetal echocardiograms at Columbia University from 2007 to 2010, to identify the mode of conception. RESULTS: Echocardiography was performed on 2828 fetuses, and 2761 (97.6%) had the method of conception documented. CHD was diagnosed in 22.4%, consisting predominantly of complex CHD. The proportion of IVF conception was lower in fetuses with CHD (6.9% CHD vs 10.3% no CHD, OR = 0.65 [95% CI 0.46-0.92], p = 0.01). IVF fetuses were conceived by elder mothers and were more likely part of a multiple gestation than those without IVF. In a multivariate model controlling for maternal age and multiple gestation, IVF was not associated with CHD diagnosis (OR = 1.1 [95% CI 0.77-1.7], p = 0.51). CONCLUSION: At a tertiary referral center, fetuses with CHD were not more likely to be conceived by IVF after controlling for maternal age and multiple gestation. These results differ from those of several previous reports, which may be related to our study population, and the exclusion of isolated atrial shunts and patent ductus arteriosus, which are normal fetal findings.


Asunto(s)
Ecocardiografía/métodos , Fertilización In Vitro/métodos , Cardiopatías Congénitas/diagnóstico por imagen , Ultrasonografía Prenatal/métodos , Adulto , Estudios de Casos y Controles , Femenino , Fertilización , Fertilización In Vitro/efectos adversos , Feto , Cardiopatías Congénitas/epidemiología , Humanos , Embarazo , Estudios Retrospectivos , Centros de Atención Terciaria
19.
J Clin Transl Sci ; 7(1): e165, 2023.
Artículo en Inglés | MEDLINE | ID: mdl-37588677

RESUMEN

Infants with congenital heart disease (CHD) may have impaired cerebral autoregulation (CA) associated with cerebral fractional tissue oxygen extraction (FTOE). We conducted a pilot study in nine CHD neonates to validate a noninvasive CA measure, cerebrovascular stability index (CSI), by eliciting responses to postural tilts. We compared CSI to an invasive measure of CA and to FTOE collected during tilts (FTOESpot). FTOESpot correlated with CSI, as did the change in FTOE during tilts, but CSI's correlation with impaired CA did not reach significance. Larger trials are indicated to validate CSI, allowing for noninvasive CA measurements and measurements in outpatient settings.

20.
Res Sq ; 2023 Feb 08.
Artículo en Inglés | MEDLINE | ID: mdl-36798365

RESUMEN

Background: Congenital heart disease (CHD) affects thousands of newborns each year in the United States (US). Infants born with CHD have an increased risk of adverse health outcomes compared to healthy infants. These outcomes include, but are not limited to, neurodevelopmental, surgical, and mortality-related outcomes. Previous US-based research has explored how sociodemographic factors may impact these health outcomes in infants with CHD; however, their impact on the risk of CHD is unclear. This study aims to explore the sociodemographic profile related to CHD to help address health disparities that arise from race and social determinants of health. Defining the sociodemographic factors associated with CHD will encourage policy change and the implementation of preventative measures. Methods: This study is a secondary analysis of longitudinally collected data. We compared infants with CHD and healthy controls. We used a questionnaire to collect sociodemographic data. Pearson's chi-square test/Fisher's exact tests analyzed the associations among different sociodemographic factors between infants with CHD and healthy controls. Results: We obtained sociodemographic factors from 30 healthy control infants and 39 infants with CHD. We found a statistically significant difference in maternal education between our 2 groups of infants (p=0.004). Conclusion: Maternal education is associated with CHD. Future studies are needed to further characterize sociodemographic factors that may predict and impact the risk of CHD and to determine possible interventions that may help decrease health disparities regarding the risk of CHD.

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