RESUMO
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a lethal lung developmental disorder caused by the arrest of fetal lung formation, resulting in neonatal death due to acute respiratory failure and pulmonary arterial hypertension. Heterozygous single-nucleotide variants or copy-number variant (CNV) deletions involving the FOXF1 gene and/or its lung-specific enhancer are found in the vast majority of ACDMPV patients. ACDMPV is often accompanied by extrapulmonary malformations, including the gastrointestinal, cardiac, or genitourinary systems. Thus far, most of the described ACDMPV patients have been diagnosed post mortem, based on histologic evaluation of the lung tissue and/or genetic testing. Here, we report a case of a prenatally detected de novo CNV deletion (~0.74 Mb) involving the FOXF1 gene in a fetus with ACDMPV and hydronephrosis. Since ACDMPV is challenging to detect by ultrasound examination, the more widespread implementation of prenatal genetic testing can facilitate early diagnosis, improve appropriate genetic counselling, and further management.
Assuntos
Fatores de Transcrição Forkhead , Hidronefrose , Síndrome da Persistência do Padrão de Circulação Fetal , Humanos , Recém-Nascido , Feto/patologia , Fatores de Transcrição Forkhead/genética , Hidronefrose/diagnóstico por imagem , Hidronefrose/genética , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Síndrome da Persistência do Padrão de Circulação Fetal/genética , Deleção de SequênciaRESUMO
To examine echocardiographic parameters correlation with clinical severity indices, Alveolar- arterial gradient (A-a gradient), oxygenation index and clinical outcomes in newborns with persistent pulmonary hypertension of the newborn (PPHN). Retrospective cohort study of 67 subjects, >35 weeks' gestation with the diagnosis of PPHN admitted to the University of Kentucky neonatal intensive care unit (NICU) between September 2014 and December 2016. High left ventricular end-systolic eccentricity index (EIs) correlates with the overall clinical severity of PPHN as it is associated with higher A-a gradient and oxygenation index (Pâ¯=â¯0.0003 and P < 0.0001, respectively). Elevated EIs was also predictive for the use of inhaled nitric oxide and extracorporeal membrane oxygenation (Pâ¯=â¯0.0004 and P < 0.0001, respectively). EIs value of >1.38 provides cutoff value as an objective marker for the need for extracorporeal membrane oxygenation. EIs can be used to assess clinical severity and outcomes and should be reported routinely. Further studies are warranted to confirm these results.
Assuntos
Hipertensão Pulmonar , Síndrome da Persistência do Padrão de Circulação Fetal , Recém-Nascido , Humanos , Hipertensão Pulmonar/diagnóstico por imagem , Hipertensão Pulmonar/terapia , Estudos Retrospectivos , Óxido Nítrico , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Síndrome da Persistência do Padrão de Circulação Fetal/terapia , Ecocardiografia/métodosRESUMO
Alveolar capillary dysplasia with misalignment of the pulmonary veins (ACDMPV) is a rare congenital pulmonary disease that affects newborns. Most patients with ACDMPV are born at full term and are healthy. The main clinical manifestations are refractory pulmonary hypertension and pulmonary failure with gastrointestinal, urinary, or cardiac malformations. ACDMPV often progresses rapidly, but no conventional biological or imaging tests other than genetic testing are available for its diagnosis. Lung biopsy is currently the gold standard for diagnosis. We herein report two cases of ACDMPV confirmed by pathological examination and discuss their ultrasonographic findings.
Assuntos
Síndrome da Persistência do Padrão de Circulação Fetal , Veias Pulmonares , Fatores de Transcrição Forkhead/genética , Humanos , Recém-Nascido , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Síndrome da Persistência do Padrão de Circulação Fetal/genética , Alvéolos Pulmonares/anormalidades , Alvéolos Pulmonares/diagnóstico por imagem , Veias Pulmonares/anormalidades , Veias Pulmonares/diagnóstico por imagem , Veias Pulmonares/patologiaRESUMO
Objective: To investigate the correlation between changes in brain natriuretic peptide (BNP) and echocardiographic features in persistent pulmonary hypertension of newborn (PPHN).Patients and methods: A total of 76 patients with PPHN treated in our hospital from March 2017 to February 2018 were divided into mild group (n = 33), moderate group (n = 22) and severe group (n = 21) according to the pulmonary arterial systolic pressure, and they were compared with 30 normal newborns (control group) during the same period. All newborns underwent echocardiography, the BNP level was detected, and the correlation between echocardiographic features and BNP changes was analyzed.Results: The BNP level in control group was significantly lower than those in PPHN groups, and it was constantly increased from mild group to severe group (p<.05). There were no significant differences in left atrial diameter (LA) and left ventricular diameter (LV) among groups (p>.05), while there were significant differences in the right atrial diameter (RA), right ventricular diameter (RV) and peak velocity of tricuspid regurgitation (VTR) (p<.05). BNP had no correlations with LA and LV (p>.05), but had positive correlations with RA, RV and VTR (r = 0.527, 0.503 and 0.524, p<.05).Conclusion: The BNP level of patients with PPHN increases with the increasing severity of disease. BNP has close correlations with echocardiographic features of neonatal patients. Predicting the BNP changes via echocardiography is of certain value in guiding the clinical treatment.
Assuntos
Peptídeo Natriurético Encefálico/sangue , Síndrome da Persistência do Padrão de Circulação Fetal/sangue , Estudos de Casos e Controles , Ecocardiografia Doppler/métodos , Feminino , Átrios do Coração/diagnóstico por imagem , Átrios do Coração/patologia , Ventrículos do Coração/diagnóstico por imagem , Ventrículos do Coração/patologia , Humanos , Recém-Nascido , Masculino , Síndrome da Persistência do Padrão de Circulação Fetal/complicações , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Síndrome da Persistência do Padrão de Circulação Fetal/fisiopatologia , Índice de Gravidade de DoençaRESUMO
Diagnostic point-of-care ultrasound (POCUS) is a growing field across all disciplines of pediatric practice. Machine accessibility and portability will only continue to grow, thus increasing exposure to this technology for both providers and patients. Individuals seeking training in POCUS should first identify their scope of practice to determine appropriate applications within their clinical setting, a few of which are discussed within this article. Efforts to build standardized POCUS infrastructure within specialties and institutions are ongoing with the goal of improving patient care and outcomes.
Assuntos
Pediatria , Sistemas Automatizados de Assistência Junto ao Leito , Ultrassonografia , Abdome/diagnóstico por imagem , Dor Abdominal/etiologia , Artefatos , Reanimação Cardiopulmonar , Doenças do Sistema Digestório/diagnóstico por imagem , Ergonomia , Olho/diagnóstico por imagem , Corpos Estranhos/diagnóstico por imagem , Hemodinâmica , Humanos , Pulmão/diagnóstico por imagem , Pneumopatias/diagnóstico por imagem , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Volume Sistólico , Trombose/diagnóstico por imagem , Vômito/etiologia , Ferimentos e Lesões/diagnóstico por imagemRESUMO
Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) is a rare lethal lung developmental disease. Affected infants manifest with severe respiratory distress and refractory pulmonary hypertension and uniformly die in the first month of life. Heterozygous point mutations or copy-number variant deletions involving FOXF1 and/or its upstream lung-specific enhancer on 16q24.1 have been identified in the vast majority of ACDMPV patients. We have previously described two unrelated families with a de novo pathogenic frameshift variant c.691_698del (p.Ala231Argfs*61) in the exon 1 of FOXF1. Here, we present a third unrelated ACDMPV family with the same de novo variant and propose that a direct tandem repeat of eight consecutive nucleotides GCGGCGGC within the ~4 kb CpG island in FOXF1 exon 1 is a novel mutation hotspot causative for ACDMPV.
Assuntos
Fatores de Transcrição Forkhead/genética , Síndrome da Persistência do Padrão de Circulação Fetal/genética , Alvéolos Pulmonares/anormalidades , Veias Pulmonares/patologia , Hibridização Genômica Comparativa , Ilhas de CpG/genética , Elementos Facilitadores Genéticos , Feminino , Mutação da Fase de Leitura/genética , Haploinsuficiência/genética , Heterozigoto , Humanos , Mutação INDEL/genética , Lactente , Recém-Nascido , Masculino , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Síndrome da Persistência do Padrão de Circulação Fetal/patologia , Alvéolos Pulmonares/diagnóstico por imagem , Alvéolos Pulmonares/patologia , Veias Pulmonares/diagnóstico por imagem , Deleção de Sequência , Sequências de Repetição em Tandem/genéticaRESUMO
INTRODUCTION: Persistent pulmonary hypertension of the newborn (PPHN) is a neonatal syndrome associated with significant morbidity and mortality that is caused by the failure of postnatal drop in pulmonary vascular resistance. In extreme cases, patients may require extracorporeal membrane oxygenation therapy (ECMO). The aim of this study was to explore lung ultrasound (LUS) patterns in newborns with PPHN requiring ECMO. PATIENTS AND METHODS: From January 2014 to January 2018, LUS was performed on patients with PPHN admitted for ECMO treatment. PPHN diagnosis was based on clinical and echocardiographic findings. LUS was performed before patients underwent ECMO cannulation. An underlying diagnosis was made taking into account the patient's complete medical history, excluding LUS information. A blinded physician, unaware of the patient's clinical condition, analyzed the stored ultrasound images. Results were then compared with chest x-ray (CXR) diagnoses. RESULTS: Seventeen patients were recruited; 12 were male (70.6%). The median gestational age was 38.7 weeks, with 13 term newborns (76.5%). Twelve were cannulated for VA ECMO, with a median ECMO run of 111.2 h. Six patients (35%) survived. Patients with alveolar capillary dysplasia with misaligned pulmonary veins, fetal ductus arteriosus constriction, or sepsis had normal LUS patterns (A-lines with lung sliding). LUS showed a better sensitivity (88.9%) and specificity (85%) than CXR (55.6 and 77.5%, respectively) in identifying patients with nonparenchymal lung disease. CONCLUSIONS: LUS can provide essential information to help diagnose the underlying cause of PPHN in an earlier and more effective way than CXR. LUS is suitable for routine utilization in the intensive care unit.
Assuntos
Pulmão/diagnóstico por imagem , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Síndrome da Persistência do Padrão de Circulação Fetal/etiologia , Ultrassonografia/métodos , Oxigenação por Membrana Extracorpórea , Feminino , Humanos , Recém-Nascido , Unidades de Terapia Intensiva Neonatal , Masculino , Projetos Piloto , Estudos Prospectivos , Radiografia , Tórax/diagnóstico por imagemRESUMO
BACKGROUND: Persistent pulmonary hypertension of the newborn (PPHN) occurs in 10% of neonatal respiratory insufficiency. To selectively reduce pulmonary vascular resistance, several treatments have been tried. Inhaled epoprostenol (iPGI2) has been used for 12 years in our institution for the management of refractory PPHN despite the gaps in the literature to support this use. OBJECTIVES: The primary objective was to evaluate the efficacy of iPGI2 for PPHN. The secondary objectives were to describe its use in neonates and assess side effects. STUDY DESIGN: This retrospective cohort study included infants < 28 days with PPHN treated with iPGI2 in the neonatal or pediatric intensive care units of our institution between 2004 and 2016. RESULTS: We reviewed 43 patient' care episodes (mean gestational age of 36 weeks). This was an extremely ill population with 54% mortality rate. Oxygenation index improved significantly after 12-hour treatment (p = 0.047), with a rebound effect when discontinuing nebulization. By the end of the therapy, the fraction of inspired oxygen had significantly dropped (p = 0.0018). Echocardiographic markers tended to normalize during treatment. No potential side effects were reported. CONCLUSION: In these sick newborns, we observed an improvement in PPHN under iPGI2 without significant adverse effects. To our knowledge, this is the largest neonatal cohort reported to have received iPGI2 for PPHN.
Assuntos
Anti-Hipertensivos/administração & dosagem , Epoprostenol/administração & dosagem , Doenças do Prematuro/tratamento farmacológico , Síndrome da Persistência do Padrão de Circulação Fetal/tratamento farmacológico , Administração por Inalação , Anti-Hipertensivos/efeitos adversos , Ecocardiografia , Epoprostenol/efeitos adversos , Feminino , Humanos , Recém-Nascido/sangue , Recém-Nascido Prematuro/sangue , Doenças do Prematuro/sangue , Doenças do Prematuro/terapia , Masculino , Oxigênio/sangue , Síndrome da Persistência do Padrão de Circulação Fetal/sangue , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Respiração Artificial , Estudos Retrospectivos , Resistência Vascular/efeitos dos fármacosRESUMO
Interstitial lung diseases in children (chILD) are rare and diverse. The current classifications include a group of early onset chILD specific to infancy, namely neuro-endocrine cell hyperplasia of infancy (NEHI), pulmonary interstitial glycogenosis (PIG) and the alveolar capillary-congenital acinar dysplasia (ACD-CAD) spectrum, as well as alveolar growth disorders. NEHI and PIG cells are seen in the normal developing foetal lung. We hypothesise that these conditions are in fact overlapping manifestations of pulmonary dysmaturity, respectively of airway, mesenchymal and vascular elements, rather than discrete clinical conditions in their own right. Clinically, these present as respiratory distress in early life. Mild cases rightly never undergo lung biopsy, and for these the clinical description 'persistent tachypnoea of infancy' has been proposed. In terms of pathology, we reviewed current literature, which showed that NEHI cells decline with age, and are not specific to NEHI, which we confirmed by unpublished re-analysis of a second dataset. Furthermore, specific genetic disorders which affect pulmonary maturation lead to a histological picture indistinguishable from NEHI. PIG and ACD-CAD are also associated with pulmonary growth disorders, and manifestations of PIG and NEHI may be present in the same child. We conclude that, contrary to current classifications, NEHI, PIG, and ACD-CAD should be considered as overlapping manifestations of pulmonary dysmaturation, frequently associated with disorders of alveolar growth, rather than as separate conditions. Identification of one of these patterns should be the start, not the end of the diagnostic journey, and underlying in particular genetic causes should be sought.
Assuntos
Doenças do Prematuro/fisiopatologia , Doenças Pulmonares Intersticiais/fisiopatologia , Criança , Pré-Escolar , Maturidade dos Órgãos Fetais , Humanos , Hiperplasia , Lactente , Recém-Nascido , Doenças do Prematuro/diagnóstico por imagem , Doenças do Prematuro/patologia , Pulmão , Doenças Pulmonares Intersticiais/diagnóstico por imagem , Doenças Pulmonares Intersticiais/patologia , Células Neuroendócrinas/patologia , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Síndrome da Persistência do Padrão de Circulação Fetal/patologia , Síndrome da Persistência do Padrão de Circulação Fetal/fisiopatologia , Alvéolos Pulmonares/anormalidades , Alvéolos Pulmonares/diagnóstico por imagem , Alvéolos Pulmonares/patologia , Alvéolos Pulmonares/fisiopatologia , Tomografia Computadorizada por Raios XRESUMO
In many preterm infants, the ductus arteriosus remains patent beyond the first few days of life. This prolonged patency is associated with numerous adverse outcomes, but the extent to which these adverse outcomes are attributable to the hemodynamic consequences of ductal patency, if at all, has not been established. Different treatment strategies have failed to improve short-term outcomes, with a paucity of data on the correct diagnostic and pathophysiological assessment of the patent ductus arteriosus (PDA) in association with long-term outcomes. Echocardiography is the selected method of choice for detecting a PDA, assessing the impact on the preterm circulation and monitoring treatment response. PDA in a preterm infant can result in pulmonary overcirculation and systemic hypoperfusion, Therefore, echocardiographic assessment should include evaluation of PDA characteristics, indices of pulmonary overcirculation with left heart loading conditions, and indices of systemic hypoperfusion. In this review, we provide an evidence-based overview of the current and emerging ultrasound measurements available to identify and monitor a PDA in the preterm infant. We offer indications and limitations for using Neonatologist Performed Echocardiography to optimize the management of a neonate with a PDA.
Assuntos
Permeabilidade do Canal Arterial/diagnóstico por imagem , Ecocardiografia/métodos , Hemodinâmica/fisiologia , Doenças do Recém-Nascido/diagnóstico por imagem , Neonatologia/métodos , Arritmias Cardíacas/diagnóstico por imagem , Cardiomiopatias/diagnóstico por imagem , Canal Arterial/diagnóstico por imagem , Canal Arterial/fisiopatologia , Permeabilidade do Canal Arterial/fisiopatologia , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro , Miocardite/diagnóstico por imagem , Neonatologistas , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Fenótipo , Prognóstico , RiscoRESUMO
Pulmonary hypertension contributes to morbidity and mortality in both the term newborn infant, referred to as persistent pulmonary hypertension of the newborn (PPHN), and the premature infant, in the setting of abnormal pulmonary vasculature development and arrested growth. In the term infant, PPHN is characterized by the failure of the physiological postnatal decrease in pulmonary vascular resistance that results in impaired oxygenation, right ventricular failure, and pulmonary-to-systemic shunting. The pulmonary vasculature is either maladapted, maldeveloped, or underdeveloped. In the premature infant, the mechanisms are similar in that the early onset pulmonary hypertension (PH) is due to pulmonary vascular immaturity and its underdevelopment, while late onset PH is due to the maladaptation of the pulmonary circulation that is seen with severe bronchopulmonary dysplasia. This may lead to cor-pulmonale if left undiagnosed and untreated. Neonatologist performed echocardiography (NPE) should be considered in any preterm or term neonate that presents with risk factors suggesting PPHN. In this review, we discuss the risk factors for PPHN in term and preterm infants, the etiologies, and the pathophysiological mechanisms as they relate to growth and development of the pulmonary vasculature. We explore the applications of NPE techniques that aid in the correct diagnostic and pathophysiological assessment of the most common neonatal etiologies of PPHN and provide guidelines for using these techniques to optimize the management of the neonate with PPHN.
Assuntos
Ecocardiografia/métodos , Neonatologia/métodos , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Displasia Broncopulmonar/diagnóstico por imagem , Cardiopatias Congênitas/diagnóstico por imagem , Ventrículos do Coração/diagnóstico por imagem , Hemodinâmica , Humanos , Hipertensão Pulmonar/diagnóstico por imagem , Recém-Nascido , Recém-Nascido Prematuro , Miocárdio , Neonatologistas , Circulação Pulmonar , Fatores de Risco , Valva Tricúspide/diagnóstico por imagemRESUMO
Cardiac ultrasound techniques are increasingly used in the neonatal intensive care unit to guide cardiorespiratory care of the sick newborn. This is the first in a series of eight review articles discussing the current status of "neonatologist-performed echocardiography" (NPE). The aim of this introductory review is to discuss four key elements of NPE. Indications for scanning are summarized to give the neonatologist with echocardiography skills a clear scope of practice. The fundamental physics of ultrasound are explained to allow for image optimization and avoid erroneous conclusions from artifacts. To ensure patient safety during echocardiography recommendations are given to prevent cardiorespiratory instability, hypothermia, infection, and skin lesions. A structured approach to echocardiography, with the same standard views acquired in the same sequence at each scan, is suggested in order to ensure that the neonatologist confirms normal structural anatomy or acquires the necessary images for a pediatric cardiologist to do so when reviewing the scan.
Assuntos
Ecocardiografia/métodos , Doenças do Recém-Nascido/diagnóstico por imagem , Neonatologia/métodos , Artefatos , Cateterismo Venoso Central , Permeabilidade do Canal Arterial/diagnóstico por imagem , Desenho de Equipamento , Hemodinâmica , Humanos , Hipotensão/diagnóstico por imagem , Processamento de Imagem Assistida por Computador , Recém-Nascido , Recém-Nascido Prematuro , Unidades de Terapia Intensiva Neonatal , Neonatologistas , Segurança do Paciente , Derrame Pericárdico/diagnóstico por imagem , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Choque/diagnóstico por imagemAssuntos
Ecocardiografia , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Circulação Pulmonar , Estudos de Coortes , Oxigenação por Membrana Extracorpórea , Feminino , Alemanha , Hérnias Diafragmáticas Congênitas/complicações , Humanos , Recém-Nascido , Estimativa de Kaplan-Meier , Masculino , Síndrome da Persistência do Padrão de Circulação Fetal/etiologia , Síndrome da Persistência do Padrão de Circulação Fetal/terapia , Prognóstico , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/fisiopatologia , Circulação Pulmonar/fisiologia , Disfunção Ventricular Direita/diagnóstico por imagem , Disfunção Ventricular Direita/etiologia , Disfunção Ventricular Direita/terapiaRESUMO
Pulmonary hypertension in the perinatal period can present acutely (persistent pulmonary hypertension of the newborn) or chronically. Clinical and echocardiographic diagnosis of acute pulmonary hypertension is well accepted but there are no broadly validated criteria for echocardiographic diagnosis of pulmonary hypertension later in the clinical course, although there are significant populations of infants with lung disease at risk for this diagnosis. Contributing cardiovascular comorbidities are common in infants with pulmonary hypertension and lung disease. It is not clear who should be treated without confirmation of pulmonary vascular disease by cardiac catheterization, with concurrent evaluation of any contributing cardiovascular comorbidities.
Assuntos
Cardiopatias Congênitas/terapia , Síndrome da Persistência do Padrão de Circulação Fetal/tratamento farmacológico , Vasodilatadores/uso terapêutico , Displasia Broncopulmonar/diagnóstico por imagem , Displasia Broncopulmonar/epidemiologia , Displasia Broncopulmonar/terapia , Comorbidade , Ecocardiografia , Cardiopatias Congênitas/epidemiologia , Hérnias Diafragmáticas Congênitas/diagnóstico por imagem , Hérnias Diafragmáticas Congênitas/epidemiologia , Hérnias Diafragmáticas Congênitas/terapia , Humanos , Hipertensão Pulmonar/diagnóstico por imagem , Hipertensão Pulmonar/tratamento farmacológico , Hipertensão Pulmonar/epidemiologia , Recém-Nascido , Imageamento por Ressonância Magnética , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Síndrome da Persistência do Padrão de Circulação Fetal/epidemiologia , Resistência VascularRESUMO
PURPOSE: The purpose of this study was to classify combined persistent fetal vasculature (PFV) on the basis of the ultrasonographic and Doppler characteristics. The potential clinical significance for both surgery design and prognosis determination was discussed. DESIGN: A cross-sectional case series. PARTICIPANTS: The eyes of 54 children diagnosed with unilateral combined PFV were evaluated using B-mode ultrasound and color Doppler imaging (CDI). METHODS: Each participant's age at first presentation, diagnosis for referral, gender, family history, and systemic or other ocular anomalies were recorded. Retinal detachment, optic nerve abnormalities, and macular dislocation were also recorded in detail according to the RetCam (Clarity Medical Systems, Pleasanton, CA), ultrasound, and Doppler findings. The PFV eyes were divided into 4 groups on the basis of the ultrasound and CDI findings. Intergroup analysis was performed. MAIN OUTCOME MEASURES: Overall and intergroup analyses of the demographic features of the children with PFV were performed. The axial length, depth of the anterior chamber, and lens thickness were compared between the affected eyes and the fellow healthy eyes among the 4 groups. RESULTS: Some 22.2%, 18.5%, 33.3%, and 25.9% of the eyes were grouped into type I ("I" shape), II ("Y" shape), III (inverted "Y" shape), and IV ("X" shape) combined PFV, respectively. The age at first presentation for type I was older than that for the other groups (P = 0.014). The axial length was reduced (P = 0.012) and the anterior chamber more shallow (P = 0.011) than in fellow healthy eyes for type IV eyes, but not for the other 3 groups. CONCLUSIONS: Ultrasound and CDI are informative screening and diagnostic tools that show characteristic flow patterns in the 4 types of combined PFV. This novel classification system provides new and important information for the diagnosis of PFV and, if validated, may play a role in guiding treatment recommendations in the future.
Assuntos
Anormalidades do Olho/classificação , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Ultrassonografia Doppler em Cores/métodos , Corpo Vítreo/anormalidades , Pré-Escolar , Estudos Transversais , Anormalidades do Olho/diagnóstico por imagem , Feminino , Angiofluoresceinografia , Fundo de Olho , Humanos , Lactente , Recém-Nascido , Masculino , Síndrome da Persistência do Padrão de Circulação Fetal/patologia , Estudos Retrospectivos , Corpo Vítreo/irrigação sanguínea , Corpo Vítreo/diagnóstico por imagemRESUMO
UNLABELLED: This report demonstrates a late presenter and long-term survivor (38 months old) of alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV) and with a heterozygous frameshift mutation in FOXF1. The mild phenotype may be due to his residual normal lung tissue as demonstrated in the chest computed tomography (CT) and histopathological findings. CONCLUSION: We report the longest survivor of ACD/MPV. The mild phenotype is most likely due to the patient's residual normal lung tissue.
Assuntos
Fatores de Transcrição Forkhead/genética , Pulmão/patologia , Síndrome da Persistência do Padrão de Circulação Fetal/genética , Síndrome da Persistência do Padrão de Circulação Fetal/patologia , Mutação da Fase de Leitura , Heterozigoto , Humanos , Lactente , Pulmão/diagnóstico por imagem , Masculino , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Índice de Gravidade de Doença , Tomografia Computadorizada por Raios XRESUMO
Persistent pulmonary hypertension of the newborn (PPHN) is a frequent cause for admission to the neonatal intensive care unit and is associated with mortality and variable morbidities. It is primarily a state of oxygenation failure representing a failure of the normal postnatal decline in pulmonary vascular resistance that may be associated with right ventricular dysfunction. Enhanced knowledge of the pathophysiologic contributors to this syndrome helps clinicians understand its phenotypic expression and facilitates more focused intensive care decision-making. The approach to treatment should be based on alleviation of the elevation in pulmonary vascular resistance and should include optimization of lung recruitment and judicious use of pulmonary vasodilators. When response to inhaled nitric oxide is suboptimal, the physiologic contributors to impaired oxygenation need further investigation. Targeted neonatal echocardiography provides novel physiologic insights; in particular, it may help assess the adequacy of right ventricular performance, the relative contribution of the fetal shunts and the magnitude of the overall impairment to cardiac output. This information may facilitate therapeutic next steps and whether adjunctive vasodilators or drugs to augment ventricular function are preferable. This article provides a comprehensive overview of the pathological contributors to PPHN, the physiologic constituents of its phenotypic expression, standard approach to therapeutic intervention, and the role of bedside echocardiography in enhancing the decision-making process.
Assuntos
Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico , Síndrome da Persistência do Padrão de Circulação Fetal/terapia , Ecocardiografia , Hemodinâmica , Humanos , Hipertensão Pulmonar/diagnóstico , Hipertensão Pulmonar/diagnóstico por imagem , Hipertensão Pulmonar/fisiopatologia , Hipertensão Pulmonar/terapia , Recém-Nascido , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Síndrome da Persistência do Padrão de Circulação Fetal/fisiopatologia , Sistemas Automatizados de Assistência Junto ao Leito , Resistência Vascular/fisiologia , Disfunção Ventricular Direita/diagnóstico , Disfunção Ventricular Direita/diagnóstico por imagem , Disfunção Ventricular Direita/fisiopatologia , Disfunção Ventricular Direita/terapiaRESUMO
AIMS: Infants with persistent pulmonary hypertension of the newborn (PPHN) have elevated pulmonary vascular resistance that can lead to right ventricular (RV) failure and death. Clinicians must decide which infants will fail conventional therapy and require transfer to extra corporeal membrane oxygenation (ECMO) centres, but accurate echocardiographic predictors have not been identified. We assessed echocardiographic measurements of RV pressure and function in predicting progression to death or ECMO in infants with PPHN. METHODS AND RESULTS: Echocardiograms for infants ≥35-week gestation with a clinical diagnosis of PPHN were retrospectively reviewed. Traditional and strain echocardiographic measures were compared for those with or without the primary outcome of ECMO/cardiovascular death. Receiver operator curves identified cut points for measures that were significantly different. Of the 86 subjects analysed, 25 (29%) of the patients had the primary outcome of ECMO/death. The ECMO/death group had diminished tricuspid annular plane systolic excursion (TAPSE; P = 0.002) and RV global longitudinal peak strain (GLPS; P = 0.03), a predominant right-to-left shunt across the patent ductus arteriosus (PDA; P = 0.05), and an elevated oxygenation index (OI; P < 0.001). Sensitivity/specificity for TAPSE <4 mm was 56 and 85%, and for GLPS greater than or equal to -9% was 52 and 77%. CONCLUSION: TAPSE, GLPS, and right-to-left PDA shunting were associated with progression to death/ECMO. RV free wall strain was not associated with the outcome, suggesting that diminished global strain better reflects clinical outcomes in this group. These thresholds may assist in the decision-making to transfer high-risk infants to ECMO centres.
Assuntos
Ecocardiografia/métodos , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Síndrome da Persistência do Padrão de Circulação Fetal/fisiopatologia , Disfunção Ventricular Direita/diagnóstico por imagem , Disfunção Ventricular Direita/fisiopatologia , Oxigenação por Membrana Extracorpórea , Feminino , Humanos , Recém-Nascido , Masculino , Síndrome da Persistência do Padrão de Circulação Fetal/mortalidade , Síndrome da Persistência do Padrão de Circulação Fetal/terapia , Estudos Retrospectivos , Taxa de Sobrevida , Disfunção Ventricular Direita/mortalidade , Disfunção Ventricular Direita/terapiaRESUMO
Persistent pulmonary hypertension of new born (PPHN) is associated with mortality and morbidity; it may be idiopathic or secondary to a number of conditions. The mainstay of diagnosis and to exclude structural abnormalities is echocardiography. Brain type natriuretic peptide (BNP) levels are elevated in PPHN, but are insufficiently sensitive to contribute to routine diagnosis. Management includes improving oxygenation by optimising lung volume by ventilatory techniques and/or surfactant and administering pulmonary vasodilator agents. Inhaled nitric oxide (iNO), a selective pulmonary vasodilator, reduces the need for extracorporeal membrane oxygenation in term infants; it does not, however, improve mortality or have any long term positive effects in prematurely born infants or infants with congenital diaphragmatic hernia. Other pulmonary vasodilators have been reported in case series to be efficacious alone or in combination with iNO. Randomised trials with long term follow up are required to identify the optimum therapeutic strategies in PPHN.
Assuntos
Oxigenação por Membrana Extracorpórea/métodos , Síndrome da Persistência do Padrão de Circulação Fetal/diagnóstico por imagem , Vasodilatadores/uso terapêutico , Administração por Inalação , Ecocardiografia/métodos , Ventilação de Alta Frequência/métodos , Humanos , Recém-Nascido , Pulmão/fisiopatologia , Peptídeo Natriurético Encefálico/sangue , Síndrome da Persistência do Padrão de Circulação Fetal/fisiopatologia , Síndrome da Persistência do Padrão de Circulação Fetal/terapia , Tensoativos/uso terapêuticoRESUMO
AIMS: To compare echocardiographic (ECHO) measures of ventricular function and hemodynamics of infants with persistent pulmonary hypertension of the newborn (PPHN) and normal controls; and to examine their association with clinical outcomes in PPHN. DESIGN/SUBJECTS: We performed a retrospective review of ECHOs of mechanically ventilated infants (≥ 34 weeks gestational age) with PPHN. Infants with congenital heart disease were excluded. Controls had normal ECHOs within 1 week of age. OUTCOMES: ECHOs measures included a) right (RVO) and left ventricular output (LVO) b) RV and LV myocardial performance index (MPI) c) right ventricular systolic to diastolic duration (S/D) ratio and d) eccentricity index in systole (EIs) and diastole (EId). RESULTS: Infants with PPHN (n = 117), 63% of whom were males, had mean (SD) GA and birth weights of 38.6 (1.9) weeks and 3.3 (0.65) kg respectively. LVO, RVO and EIs were significantly lower and heart rate, MPI and RV S/D ratio were significantly higher in infants with PPHN, compared to controls (n = 35). The mean RV S/D ratios were significantly higher in infants with PPHN who died or required ECMO (n = 61), compared to survivors without ECMO (n = 56). Increasing RV S/D ratio was independently associated with a reduction in survival without ECMO [0.21; 95% C.I. 0.06-0.74, p = 0.015]. RV S/D ratio >1.3 had a sensitivity of 93 (95% C.I. 85-99) % for death or ECMO. CONCLUSIONS: Elevated RV S/D ratio, a marker of global RV dysfunction, was associated with adverse outcomes in PPHN. Its routine measurement in this population may aid risk-identification and targeted interventions.