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1.
Mol Genet Genomic Med ; 9(11): e1814, 2021 11.
Artigo em Inglês | MEDLINE | ID: mdl-34672437

RESUMO

BACKGROUND: Pathogenic variants in MYH11 are associated with either heritable thoracic aortic aneurysm and dissection (HTAAD), patent ductus arteriosus (PDA) syndrome, or megacystis-microcolon-intestinal hypoperistalsis syndrome (MMIHS). METHODS AND RESULTS: We report a family referred for molecular diagnosis with HTAAD/PDA phenotype in which we found a variant at a non-conserved position of the 5' donor splice site of intron 32 of MYH11 potentially altering splicing (NM_002474.3:c.4578+3A>C). Although its cosegregation with disease was observed, it remained of unknown significance. Later, aortic surgery in the proband gave us the opportunity to perform a transcript analysis. This showed a skipping of the exon 32, an RNA defect previously reported to be translated to an in-frame loss of 71 amino acids and a dominant-negative effect in the smooth muscle myosin rod. This RNA defect is also reported in 3 other HTAAD/PDA pedigrees. CONCLUSION: This report confirms that among rare variants in MYH11, skipping of exon 32 is recurrent. This finding is of particular interest to establish complex genotype-phenotype correlations where some alleles are associated with autosomal dominant HTAAD/PDA, while others result in recessive or dominant visceral myopathies.


Assuntos
Aneurisma da Aorta Torácica/genética , Dissecção Aórtica/genética , Permeabilidade do Canal Arterial/genética , Cadeias Pesadas de Miosina/genética , Sítios de Splice de RNA , Dissecção Aórtica/patologia , Aneurisma da Aorta Torácica/patologia , Permeabilidade do Canal Arterial/patologia , Éxons , Humanos , Masculino , Mutação , Splicing de RNA , Adulto Jovem
2.
Sci Rep ; 11(1): 9929, 2021 05 11.
Artigo em Inglês | MEDLINE | ID: mdl-33976258

RESUMO

Maternal consumption of polyphenol-rich foods has been associated with fetal ductus arteriosus constriction (DAC), but safety of chocolate exposure in fetal life has not been studied. This experimental study tested the hypothesis that maternal cocoa consumption in late pregnancy causes fetal DAC, with possible associated antioxidant effects. Pregnant Wistar rats, at the 21st gestational day, received by orogastric tube cocoa (720 mg/Kg) for 12 h, indomethacin (10 mg/Kg), for 8 h, or only water, before cesaren section. Immediately after withdrawal, every thorax was obtained and tissues were fixed and stained for histological analysis. The ratio of the narrowest part of the pulmonary artery to the fetal ductus inner diameter and increased ductal inner wall thickness characterized ductal constriction. Substances reactive to thiobarbituric acid were quantified. Statistical analysis used ANOVA and Tukey test. Cocoa (n = 33) and indomethacin (n = 7) reduced fetal internal ductus diameter when compared to control (water, n = 25) (p < 0.001) and cocoa alone increased ductus wall thickness (p < 0.001), but no change was noted in enzymes activity. This pharmacological study shows supporting evidences that there is a cause and effect relationship between maternal consumption of cocoa and fetal ductus arteriosus constriction. Habitual widespread use of chocolate during gestation could account for undetected ductus constriction and its potentially severe consequences, such as perinatal pulmonary hypertension, cardiac failure and even death. For this reason, dietary guidance in late pregnancy to avoid high chocolate intake, to prevent fetal ductal constriction, may represent the main translational aspect of this study.


Assuntos
Chocolate/efeitos adversos , Permeabilidade do Canal Arterial/etiologia , Canal Arterial/anormalidades , Efeitos Tardios da Exposição Pré-Natal/etiologia , Animais , Constrição Patológica/etiologia , Constrição Patológica/patologia , Canal Arterial/patologia , Permeabilidade do Canal Arterial/patologia , Feminino , Doenças Fetais/etiologia , Doenças Fetais/patologia , Feto/anormalidades , Feto/patologia , Masculino , Exposição Materna/efeitos adversos , Gravidez , Efeitos Tardios da Exposição Pré-Natal/patologia , Ratos , Ratos Wistar
4.
Intern Med ; 58(9): 1301-1305, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31061260

RESUMO

This case report concerns a 22-year-old woman with large patent ductus arteriosus and atrial septal defect. She was referred to our hospital because of exertional dyspnea and was revealed to have advanced pulmonary arterial hypertension (PAH) with a mean pulmonary arterial pressure (PAP) of 79 mmHg. Although both shunts had bidirectional flow, based on the results of acute pulmonary vasoreactive testing, one-stage surgical closure was performed followed by up-front combination therapy for post-operative pulmonary hypertensive crisis and residual PAH. At 14 months after the surgery, her symptoms were markedly improved, and her mean PAP had dramatically decreased to 13 mmHg.


Assuntos
Permeabilidade do Canal Arterial/complicações , Permeabilidade do Canal Arterial/patologia , Comunicação Interatrial/complicações , Comunicação Interatrial/patologia , Hipertensão Pulmonar/etiologia , Terapia Combinada , Dispneia/etiologia , Feminino , Humanos , Hipertensão Pulmonar/fisiopatologia , Encefalopatia Hipertensiva/complicações , Complicações Pós-Operatórias , Pressão Propulsora Pulmonar , Adulto Jovem
5.
J Matern Fetal Neonatal Med ; 32(21): 3647-3654, 2019 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-29695206

RESUMO

Objective: The objective of this study is to evaluate the efficacy and safety of oral paracetamol versus oral ibuprofen in the treatment of hemodynamically significant patent ductus arteriosus (hsPDA) in preterm infants. Study design: An interventional randomized case-control study, registered in ClinicalTrials.gov (NCT03265782), was conducted on 60 preterm infants with gestational age ≤34 weeks, postnatal age of 2-7 d and color Doppler echocardiographic evidence of hsPDA. Neonates were randomly assigned to two groups: 30 received oral ibuprofen and 30 received oral paracetamol. With failure of ductal closure, a second course of ibuprofen or paracetamol was given. The included newborns were subjected to detailed history, clinical examination, laboratory investigations that included complete blood count, renal, and liver function tests and echocardiographic evaluation. Results: Oral paracetamol was as effective as ibuprofen for the closure of patent ductus arteriosus (PDA) with one course of treatment (p > .05). Moreover, oral paracetamol was superior to ibuprofen among neonates who needed second course of treatment with significant decrease in end diastolic flow velocity in the left pulmonary artery (0.35 ± 0.09 versus 0.19 ± 0.06, p = .014), right ventricular systolic pressure (40.50 ± 12.91 versus 20.50 ± 0.58, p = .016) and left atrium to aortic root ratio (1.23 ± 0.14 versus 1.07 ± 0.04, p = .046) when compared to ibuprofen group. Furthermore, the mean difference between pre- and post-treatment PDA size was significantly higher in the paracetamol group compared with ibuprofen group after the second course of treatment (1.07 ± 0.32 versus 0.73 ± 0.38, p = .024). Oral paracetamol was comparable with ibuprofen in terms of the rate of non-surgical ductal closure [28 (93.3%) versus 24 (80%), p = .591]. In addition, oral paracetamol was as safe as oral ibuprofen in terms of gastrointestinal perforation or bleeding, necrotizing enterocolitis, bronchopulmonary dysplasia, intraventricular hemorrhage, thrombocytopenia, hepatic or renal dysfunction. Conclusions: Oral paracetamol is an effective and well-tolerated first-line drug treatment for PDA in premature infants.


Assuntos
Acetaminofen/administração & dosagem , Acetaminofen/efeitos adversos , Permeabilidade do Canal Arterial/tratamento farmacológico , Ibuprofeno/administração & dosagem , Ibuprofeno/efeitos adversos , Recém-Nascido Prematuro , Administração Oral , Estudos de Casos e Controles , Método Duplo-Cego , Permeabilidade do Canal Arterial/patologia , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Doenças do Prematuro/tratamento farmacológico , Doenças do Prematuro/patologia , Masculino , Resultado do Tratamento
6.
Rev. chil. pediatr ; 88(2): 280-284, abr. 2017. ilus
Artigo em Espanhol | LILACS | ID: biblio-844612

RESUMO

Una adecuada dilatación pupilar es necesaria para evaluar a neonatos con riesgo de desarrollar enfermedades oftalmológicas. Sin embargo, este procedimiento no está libre de efectos adversos locales o sistémicos. La vasoconstricción local posterior a la aplicación de midriáticos es una de estas complicaciones, existiendo además descritos efectos secundarios sistémicos. OBJETIVO: Presentar complicaciones asociadas al uso de midriáticos en 2 recién nacidos sometidos a evaluación oftalmológica. CASO CLINICO 1: Recién nacido de término con diagnóstico prenatal de restricción de crecimiento intrauterino e hidrocefalia. Al 5º día de vida se solicitó evaluación oftalmológica por presencia de opacidades corneales. Al realizar el procedimiento se evidenció palidez periorbitaria, al igual que taquicardia e hipertensión arterial en las siguientes 2 horas post procedimiento. Estos efectos secundarios se resolvieron espontáneamente pocas horas después del procedimiento. CASI CLINICO 2: Neonato de pretérmino de 27 semanas de gestación con antecedentes de síndrome de dificultad respiratoria, ductus arterioso persistente, hemorragia intraventricular grado III e hidrocefalia severa. Se solicitó examen oftalmológico a los 28 días de vida por sospecha de retinopatía del prematuro. A los 10 minutos post administración de midriáticos se observó palidez periorbitaria bilateral sin deterioro de signos vitales, presentando 24 horas después intolerancia a la alimentación y distensión abdominal. Se descartó enterocolitis necrotizante. CONCLUSIÓN: Es necesario establecer protocolos clínicos en relación al uso de midriáticos para reducir efectos deletéreos en neonatos de alto riesgo, como son los prematuros y aquellos con hidrocefalia. Por lo tanto, la monitoría debería realizarse durante la evaluación.


Adequate pupil dilation is needed to evaluate some neonates at risk of developing illness during this stage. However, this procedure is not free of adverse effects, either local or systemic. One of these complications is the local vasoconstriction of the preterm baby’s skin following the application of mydriatic eye drops. OBJECTIVE: To describe secondary local and systemic complications of pharmacological pupil dilation in 2 newborns. CLINICAL CASE 1: Full term baby with diagnosis of low-birth weight and hydrocephalia. An ophtalmological evaluation was performed at 5 days of age due to the presence of corneal opacities. Peri ocular pallor was observed during the procedure, as well as tachycardia and hypertension 2 hours later, spontaneosly recovered. CASE 2: Preterm newborn, 27 weeks of gestational age. Neonatal respiratory distress syndrome, patent ductus arteriosus, intraventricular hemorrhage and hydrocephalia were diagnosed at birth. At 28 days of life an ophtalmological evaluation was performed. After 10 minutes of mydriatic drops administration to evaluate preterm retinopathy, peri ocular pallor was observed, with spontaneous resolution; however, 24 hours later, the patient showed abdominal distention and feeding intolerance. Necrotizing enterocolitis was discarded, and symptoms were spontaneosly recovered. CONCLUSION: The establishment of protocols in relation to the number of drops to apply for dilation is needed to reduce deleterious effects on high risk infants, such as premature babies and those with hydrocephalus. Therefore this monitoring practice should be performed during the evaluation.


Assuntos
Humanos , Recém-Nascido , Vasoconstrição/efeitos dos fármacos , Hidrocefalia/fisiopatologia , Midriáticos/administração & dosagem , Síndrome do Desconforto Respiratório do Recém-Nascido/patologia , Recém-Nascido de Baixo Peso , Permeabilidade do Canal Arterial/patologia , Midriáticos/efeitos adversos
7.
Am J Med Genet A ; 173(4): 959-965, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28328125

RESUMO

De novo heterozygous mutations changing R179 to histidine, leucine, or cysteine in the ACTA2 gene are associated with Multisystemic Smooth Muscle Dysfunction Syndrome (MSMDS). Characteristic hallmarks of this condition, caused only by these specific ACTA2 mutations, are congenital mydriasis (mid-dilated, non-reactive pupils), a large persistent ductus arteriosus (PDA), aortic aneurysms evolving during childhood, and cerebrovascular anomalies. We describe two patients, a 3-day-old newborn and a 26-year-old woman, with this unique mutation in association with a huge PDA and an aorto-pulmonary window. In addition, one showed a coarctation of the aortic arch and the other a complete interruption of the aortic arch type A; thereby expanding the spectrum of cardiac congenital heart defect of this syndrome. Each patient displayed a huge PDA and an extra-cardiovascular phenotype consistent with MSMDS. These observations exemplify that a functional alpha 2 smooth muscle actin is necessary for proper cardiovascular organ development, and demonstrate that a very exceptional congenital heart defect (aortopulmonary window) can be caused by a mutation in a gene encoding a contractile protein of vascular smooth muscle cells. © 2017 Wiley Periodicals, Inc.


Assuntos
Actinas/genética , Aneurisma Aórtico/patologia , Permeabilidade do Canal Arterial/patologia , Oftalmopatias Hereditárias/patologia , Cardiopatias Congênitas/patologia , Mutação , Midríase/patologia , Adulto , Aneurisma Aórtico/diagnóstico por imagem , Aneurisma Aórtico/genética , Permeabilidade do Canal Arterial/diagnóstico por imagem , Permeabilidade do Canal Arterial/genética , Oftalmopatias Hereditárias/diagnóstico por imagem , Oftalmopatias Hereditárias/genética , Feminino , Expressão Gênica , Cardiopatias Congênitas/diagnóstico por imagem , Cardiopatias Congênitas/genética , Heterozigoto , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Músculo Liso/metabolismo , Músculo Liso/patologia , Midríase/diagnóstico por imagem , Midríase/genética , Fenótipo , Síndrome
8.
Bol. méd. Hosp. Infant. Méx ; 74(1): 55-59, ene.-feb. 2017. graf
Artigo em Espanhol | LILACS | ID: biblio-888596

RESUMO

Resumen: Introducción: El síndrome de la cimitarra consiste en una rara malformación, caracterizada por una conexión anómala parcial de una o ambas venas pulmonares derechas a la vena cava inferior, hipoplasia de pulmón derecho y circulación sistémica desde la aorta descendente. El síndrome de la cimitarra en ocasiones se asocia con otras malformaciones congénitas, entre las que se incluye la persistencia del conducto arterioso (PCA). Caso clínico: Paciente de sexo femenino de cuatro años de edad con síndrome de la cimitarra, variedad ''adulto'', asociado con PCA sintomático. Se realizó exitosamente oclusión del conducto mediante un asa arteriovenosa femoral con un dispositivo Amplatzer® PDA, sin complicaciones. Conclusiones: El manejo del síndrome de la cimitarra es complejo y amerita de un estudio hemodinámico completo para determinar el tratamiento adecuado. La hipertensión arterial pulmonar es un factor de mal pronóstico.


Abstract: Background: Scimitar syndrome consists in a rare malformation characterized by a partial abnormal connection in one or both right pulmonary veins to the inferior vena cava, right lung hypoplasia and systemic circulation from the descending aorta. Scimitar syndrome is occasionally associated to other congenital malformations, such as patent ductus arteriosus (PDA). Case report: We report a 4-year-old patient with ''adult'' variety of scimitar syndrome associated to symptomatic PDA, which was successfully occluded using retrograde guidewire-established femoral arteriovenous loop with an Amplatzer® PDA occluder, without complications. Conclusions: Scimitar syndrome is complex and requires a complete hemodynamic study for the determination of the appropriate treatment. Pulmonary arterial hypertension is a factor associated with poor prognosis.


Assuntos
Pré-Escolar , Feminino , Humanos , Síndrome de Cimitarra/cirurgia , Derivação Arteriovenosa Cirúrgica/métodos , Permeabilidade do Canal Arterial/cirurgia , Síndrome de Cimitarra/fisiopatologia , Derivação Arteriovenosa Cirúrgica/instrumentação , Permeabilidade do Canal Arterial/patologia , Dispositivo para Oclusão Septal
9.
PLoS One ; 12(1): e0170797, 2017.
Artigo em Inglês | MEDLINE | ID: mdl-28125676

RESUMO

Conventional magnetic resonance imaging (MRI) at term equivalent age (TEA) is suggested to be a reliable tool to predict the outcome of very premature infants. The objective of this study was to determine simple reproducible MRI indices, in premature infants and to analyze their neonatal determinants at TEA. A cohort of infants born before 32 weeks gestational age (GA) underwent a MRI at TEA in our center. Two axial images (T2 weighted), were chosen to realize nine measures. We defined 4 linear indices (MAfhlv: thickness of lateral ventricle; CSI: cortex-skull index; VCI: ventricular-cortex index; BOI: bi occipital index) and 1 surface index (VS.A: volume slice area). Perinatal data were recorded. Sixty-nine infants had a GA (median (interquartile range)) of 30.0 weeks GA (27.0; 30.0) and a birth weight of 1240 grams (986; 1477). MRI was done at 41.0 (40.0; 42.0) weeks post menstrual age (PMA). The inter-investigator reproducibility was good. Twenty one MRI (30.5%) were quoted abnormal. We observed an association with retinopathy of prematurity (OR [95CI] = 4.205 [1.231-14.368]; p = 0.017), surgery for patent ductus arteriosus (OR = 4.688 [1.01-21.89]; p = 0.036), early onset infection (OR = 4.688 [1.004-21.889]; p = 0.036) and neonatal treatment by cefotaxime (OR = 3.222 [1.093-9.497]; p = 0.03). There was a difference for VCI between normal and abnormal MRI (0.412 (0.388; 0.429) vs. 0.432 (0.418; 0.449); p = 0,019); BOI was higher when fossa posterior lesions were observed; VS.A seems to be the best surrogate for cerebral volume, 80% of VS.As' variance being explained by a multiple linear regression model including 7 variables (head circumference at birth and at TEA, PMA, dopamine, ibuprofen treatment, blood and platelets transfusions). These indices, easily and rapidly achievable, seem to be useful but need to be validated in a large population to allow generalization for diagnosis and follow-up of former premature infants.


Assuntos
Córtex Cerebral/diagnóstico por imagem , Ventrículos Cerebrais/diagnóstico por imagem , Permeabilidade do Canal Arterial/diagnóstico por imagem , Lactente Extremamente Prematuro , Retinopatia da Prematuridade/diagnóstico por imagem , Infecções Bacterianas/diagnóstico por imagem , Infecções Bacterianas/patologia , Infecções Bacterianas/fisiopatologia , Córtex Cerebral/patologia , Córtex Cerebral/fisiopatologia , Ventrículos Cerebrais/patologia , Ventrículos Cerebrais/fisiopatologia , Permeabilidade do Canal Arterial/patologia , Permeabilidade do Canal Arterial/fisiopatologia , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Imageamento por Ressonância Magnética , Masculino , Micoses/diagnóstico por imagem , Micoses/patologia , Micoses/fisiopatologia , Gravidez , Prognóstico , Estudos Prospectivos , Retinopatia da Prematuridade/patologia , Retinopatia da Prematuridade/fisiopatologia , Viroses/diagnóstico por imagem , Viroses/patologia , Viroses/fisiopatologia
10.
Clinics ; 71(10): 580-585, Oct. 2016. tab, graf
Artigo em Inglês | LILACS | ID: lil-796867

RESUMO

OBJECTIVE: Early diagnosis of significant patent ductus arteriosus reduces the risk of clinical worsening in very low birth weight infants. Echocardiographic patent ductus arteriosus shunt flow pattern can be used to predict significant patent ductus arteriosus. Pulmonary venous flow, expressed as vein velocity time integral, is correlated to ductus arteriosus closure. The aim of this study is to investigate the relationship between significant reductions in vein velocity time integral and non-significant patent ductus arteriosus in the first week of life. METHODS: A multicenter, prospective, observational study was conducted to evaluate very low birth weight infants (<1500 g) on respiratory support. Echocardiography was used to evaluate vein velocity time integral on days 1 and 4 of life. The relationship between vein velocity time integral and other parameters was studied. RESULTS: In total, 98 very low birth weight infants on respiratory support were studied. On day 1 of life, vein velocity time integral was similar in patients with open or closed ductus. The mean vein velocity time integral significantly reduced in the first four days of life. On the fourth day of life, there was less of a reduction in patients with patent ductus compared to those with closed patent ductus arteriosus and the difference was significant. CONCLUSIONS: A significant reduction in vein velocity time integral in the first days of life is associated with ductus closure. This parameter correlates well with other echocardiographic parameters and may aid in the diagnosis and management of patent ductus arteriosus.


Assuntos
Humanos , Masculino , Feminino , Recém-Nascido , Permeabilidade do Canal Arterial/fisiopatologia , Recém-Nascido de muito Baixo Peso/fisiologia , Veias Pulmonares/fisiopatologia , Velocidade do Fluxo Sanguíneo/fisiologia , Permeabilidade do Canal Arterial/diagnóstico por imagem , Permeabilidade do Canal Arterial/patologia , Ecocardiografia Doppler/métodos , Recém-Nascido Prematuro , Estudos Prospectivos , Veias Pulmonares/diagnóstico por imagem , Veias Pulmonares/patologia , Valores de Referência , Fatores de Risco , Estatísticas não Paramétricas , Fatores de Tempo
11.
Pediatrics ; 137(4)2016 04.
Artigo em Inglês | MEDLINE | ID: mdl-27030421

RESUMO

BACKGROUND AND OBJECTIVES: A hemodynamically significant patent ductus arteriosus (PDA) can compromise perfusion and oxygenation of the preterm brain. Reports suggest that PDA is associated with increased mortality and morbidity. We hypothesize that long-standing low cerebral oxygenation due to PDA might affect brain volume at term equivalent age. METHODS: Observational study in 140 infants investigating the relationship between near-infrared spectroscopy-monitored cerebral oxygen saturation (rSco2) and MRI-assessed regional brain volume and maturation of the posterior limb of the internal capsule at term-equivalent age in 3 groups: those whose PDA closed with indomethacin, those who needed additional surgical closure, and matched controls. RESULTS: The surgery group had the lowest rSco2 values before closure (n = 35), 48% ± 9.7% (mean ± SD) as compared with the indomethacin (n = 35), 59% ± 10.4 (P < .001), and control groups (n = 70), 66% ± 6.9 (P < .001); the highest postnatal age before effective treatment; and the lowest volumes of most brain regions at term-equivalent age. Multiple linear regression analysis showed a significant effect of preductal closure rSco2 on cerebellar volume in this group. No differences were found in maturation of the posterior limb of the internal capsule. CONCLUSIONS: Long-standing suboptimal cerebral oxygenation due to a PDA may negatively influence brain growth, affecting neurodevelopmental outcome.


Assuntos
Encéfalo/anatomia & histologia , Permeabilidade do Canal Arterial/patologia , Doenças do Prematuro/patologia , Encéfalo/irrigação sanguínea , Encéfalo/diagnóstico por imagem , Encéfalo/metabolismo , Permeabilidade do Canal Arterial/cirurgia , Feminino , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/diagnóstico por imagem , Doenças do Prematuro/metabolismo , Modelos Lineares , Imageamento por Ressonância Magnética , Masculino , Tamanho do Órgão , Oxigênio/sangue
12.
Am J Med Genet A ; 170A(2): 337-343, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26453443

RESUMO

Trisomy 18 (Edwards syndrome) is the second most common autosomal trisomy after trisomy 21. Medical issues commonly include cardiac defects, such as ventricular septal defect (VSD) and atrial septal defect (ASD). If untreated, these conditions can contribute to the associated infant mortality. The objective of the study was review parent-reported information on 84 cases with full trisomy 18 focusing on prenatal and postnatal assessment and confirmation of cardiac defects and on subsequent treatment with cardiac surgery and post-surgery outcomes. At birth, 65 parent responses indicated the presence of VSD (77.4%), 38 ASD (45.2%), and 50 patent ductus arteriosus (PDA) (59.5%). The presence of multiple cardiac defects was also analyzed including 25 cases with VSD, ASD, and PDA at birth. The total reduced to 18 at survey completion. Twenty-four cases had one or more cardiac defects repaired for a total of 34 corrective surgeries. Age at surgery varied from 2 weeks to 41 months of age with most performed under 1 year of age. Twenty-one cases were still living at the time of survey completion (87.5%). From these date we provide recommendations and implications.


Assuntos
Permeabilidade do Canal Arterial/cirurgia , Comunicação Interatrial/cirurgia , Comunicação Interventricular/cirurgia , Trissomia/genética , Adolescente , Adulto , Procedimentos Cirúrgicos Cardíacos , Criança , Pré-Escolar , Cromossomos Humanos Par 18/genética , Permeabilidade do Canal Arterial/genética , Permeabilidade do Canal Arterial/patologia , Feminino , Comunicação Interatrial/genética , Comunicação Interatrial/patologia , Comunicação Interventricular/genética , Comunicação Interventricular/patologia , Humanos , Lactente , Masculino , Prognóstico , Trissomia/patologia , Síndrome da Trissomía do Cromossomo 18 , Adulto Jovem
13.
BMC Res Notes ; 8: 511, 2015 Sep 30.
Artigo em Inglês | MEDLINE | ID: mdl-26423273

RESUMO

BACKGROUND: Inadvertent ligation of the left pulmonary artery during attempted surgical closure of a Patent Ductus Arteriosus has long been recognized as one of the less common complications of this procedure. Surgical reconstruction of the left pulmonary artery was then often attempted but was difficult or impossible in some of the patients with hypoplasia of the left pulmonary artery and the left lung. CASE PRESENTATION: A 10-year-old girl presented with marked exercise intolerance and palpitations and was diagnosed to have large PDA. She had feeding difficulty, diaphoresis, failure to gain weight, recurrent chest infections during infancy and early childhood. Physical examination revealed an underweight child with wide pulse pressure and bounding peripheral pulses. She had active precordium with accentuated P2 and machinery murmur in the left 2nd intercostal space and mid diastolic rumble at the mitral area. Echocardiography showed a 12 mm patent arterial duct. She was taken for an intended surgical ligation of the duct but a control echocardiogram on the 3rd postoperative day revealed that the left pulmonary artery, instead of the duct, was ligated. Surgical reconstruction of the left pulmonary artery was undertaken 3 years later, however, this was complicated by post reconstruction left pulmonary artery stenosis. Successful percutaneous stenting of the left pulmonary artery was performed 18 months after the surgical reconstruction. CONCLUSION: The incidence of inadvertent LPA ligation may be underestimated where PDA ligation is done by less experienced surgeons and postoperative echocardiography is not routinely performed. Late correction of inadvertent LPA ligation is an important surgical challenge, especially if the duct is still patent. Percutaneous stenting as a primary option may carry significant risk, as the ligated pulmonary artery is fragile. In our case, a good result was achieved with surgical repair followed by percutaneous stenting.


Assuntos
Constrição Patológica/cirurgia , Permeabilidade do Canal Arterial/cirurgia , Pulmão/cirurgia , Erros Médicos/efeitos adversos , Artéria Pulmonar/cirurgia , Criança , Constrição Patológica/etiologia , Constrição Patológica/patologia , Permeabilidade do Canal Arterial/patologia , Feminino , Humanos , Ligadura/efeitos adversos , Pulmão/irrigação sanguínea , Artéria Pulmonar/anormalidades , Recuperação de Função Fisiológica , Stents
14.
Tex Heart Inst J ; 42(3): 262-4, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26175644

RESUMO

This report describes unusual autopsy findings in a 44-year-old woman who had a large, calcified patent ductus arteriosus that produced substantial left-to-right shunting. The patient died in 1962, 7 days after patch closure of the aortic orifice of the ductus. Numerous calcific deposits were present in the mural left atrial endocardium, the mitral valve leaflets and annulus, and the aortic valve cusps. The cause of the left-sided calcific deposits was perhaps related to the patient's several-decades-old giant aortopulmonary shunt, causing a major increase in the volume of blood passing through the left-sided cardiac chambers in comparison with the volume in the right side. To our knowledge, such findings in a patient with patent ductus arteriosus have not been reported previously.


Assuntos
Valva Aórtica , Calcinose/etiologia , Permeabilidade do Canal Arterial/complicações , Átrios do Coração , Doenças das Valvas Cardíacas/etiologia , Valva Mitral , Adulto , Permeabilidade do Canal Arterial/patologia , Feminino , Cardiopatias/etiologia , Humanos
15.
J Vet Cardiol ; 17 Suppl 1: S349-53, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26776592

RESUMO

A left-to-right shunting patent ductus arteriosus was diagnosed in a 13-week-old, 2.5 kg, male, domestic Shorthair cat with a continuous murmur. Echocardiographic abnormalities were identified, including: cardiomegaly, wide and presumably short ductal ampulla, and a large right branch pulmonary artery. When these findings were combined with the small patient size, additional imaging was considered prior to surgical ligation, and computed tomography angiography was preferred over standard angiography to provide multi-dimensional appreciation of the anatomy prior to surgery. The dataset from a computed tomography angiographic study performed prior to surgical ligation was used to create a three-dimensional model of the heart and great vessels. The rendered images accurately depicted the cardiac anatomy in situ, which can be utilized for surgical procedural planning and to enhance visuospatial understanding of the anatomy at all levels of training.


Assuntos
Doenças do Gato/patologia , Permeabilidade do Canal Arterial/veterinária , Tomografia Computadorizada por Raios X/veterinária , Animais , Doenças do Gato/diagnóstico por imagem , Doenças do Gato/cirurgia , Gatos , Permeabilidade do Canal Arterial/diagnóstico por imagem , Permeabilidade do Canal Arterial/patologia , Permeabilidade do Canal Arterial/cirurgia , Ligadura/veterinária , Masculino , Ultrassonografia
16.
Circ J ; 78(9): 2197-202, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25030418

RESUMO

BACKGROUND: Transcatheter closure (TCC) of ruptured sinus of Valsalva aneurysm (RSVA) is an alternative strategy to surgery, but there is a lack of long-term outcome data. METHODS AND RESULTS: From 2004 to 2012, 17 patients (8 males, 9 females) were treated with patent ductus arteriosus (PDA) occluders by antegrade venous approach and were followed for 18-102 months. Of the 17 patients, transthoracic echocardiography revealed rupture of the right coronary sinus into the right ventricle in 9 and into the right atrium in 4, and noncoronary sinus rupture into the right ventricle in 3 and into the right atrium in 1. Most (10/17) were in New York Heart Association (NYHA) functional class III or IV. Aortography showed that the size of the defect was 7.71±2.84 mm (4-15 mm). TCC was attempted using PDA occluders 2-5 mm larger than the aortic end of the defects. The device sizes ranged from 8/6 to 18/16 mm (median, 10/8 mm). The procedure was successful in 16 (94.1%), and all of them had complete occlusion at discharge. On a median follow-up of 42 months, 14 patients were in NYHA class I and 2 were in class II, and there was no residual shunt, device embolization, infective endocarditis, or aortic regurgitation. CONCLUSIONS: TCC of RSVA is a safe and effective alternative to surgery with favorable long-term follow-up results.


Assuntos
Ruptura Aórtica , Cateterismo Cardíaco/métodos , Permeabilidade do Canal Arterial , Seio Aórtico , Adolescente , Adulto , Ruptura Aórtica/etiologia , Ruptura Aórtica/patologia , Ruptura Aórtica/cirurgia , Aortografia/métodos , Criança , Permeabilidade do Canal Arterial/complicações , Permeabilidade do Canal Arterial/patologia , Permeabilidade do Canal Arterial/cirurgia , Ecocardiografia/métodos , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Seio Aórtico/patologia , Seio Aórtico/cirurgia
19.
Rev. bras. cir. cardiovasc ; 28(4): 504-508, out.-dez. 2013. tab
Artigo em Inglês | LILACS | ID: lil-703119

RESUMO

OBJECTIVE: To identify clinical and echocardiographic indicators of the necessity for early surgical closure of patent ductus arteriosus in preterm neonates. METHODS: The prospective study was conducted at the Neonatal Unit of Hospital Municipal Odilon Behrens between 2006 and 2010. The study population comprised 115 preterm neonates diagnosed with patent ductus arteriosus in the first week after birth, of whom 55 (group S) were submitted to clinical and or surgical closure and 60 (group NS) received non-surgical treatment. The parameters analyzed were birth weight, diameter of the ductus arteriosus (DAD), left atrial-to-aortic root diameter ratio (LA:Ao), the quotient of DAD² and birth weight (mm²/kg), and ductal shunting. RESULTS: The study population comprised 58 males and 57 females. The average birth weight of group S (924 ± 224.3 g) was significantly (P=0.049) lower than that of group NS (1012.3 ± 242.8 g). The probability of the preterm neonates being submitted to surgical closure was 62.1% (P=0.006) when the DAD2/birth weight index was > 5 mm²/kg, 72.2% (P=0.001) when the LA:Ao ratio was > 1.5, and 61.2% when ductal shunting was high (P=0.025). CONCLUSION: The parameters DAD²/birth weight index > 5 mm²/kg, LA:Ao ratio > 1.5 and high ductal shunting were statistically significant indicators (P<0.05) of the need for surgical closure of patent ductus arteriosus in low birth weight preterm neonates. Moreover, when an LA:Ao ratio > 1.5 was associated with the occurrence of shock, the probability of surgical closure increased to 78.4%.


OBJETIVO: Identificar parâmetros clínicos e ecocardiográficos para a indicação do tratamento cirúrgico precoce da persistência do ducto arterial. MÉTODOS: Esse estudo prospectivo foi conduzido na Unidade Neonatal do Hospital Municipal Odilon Behrens entre 2006 e 2010. A população estudada compreendeu 115 neonatos prematuros diagnosticados com persistência do ducto arterial na primeira semana após o nascimento, dos quais 55 (grupo S) foram submetidos ao tratamento clínico e ou cirúrgico e 60 (grupo NS) ao tratamento clínico. Os parâmetros analisados foram peso ao nascer, diâmetro do ducto arterial (DAD), relação diâmetro do átrio esquerdo pelo diãmetro da aorta (AE/Ao), índice DAD2/peso ao nascer e fluxo no ducto. RESULTADOS: O estudo abrangeu 58 pacientes do sexo masculino e 57 do feminino. O peso médio ao nascer do grupo S (924 ± 224,3 g) foi significativamente (P=0,049) menor do que do grupo NS (1012,3 ± 242,8 g). A probabilidade dos neonatos prematuros serem submetidos à cirurgia foi 62.1% (P=0,006) quando o índice DAD2/peso ao nascer era > 5 mm2/kg, 72,2% (P=0,001) quando a razão LA:Ao era > 1,5 e 61,2% (P=0,025) quando o fluxo no ducto era alto. CONCLUSÃO: Os parâmetros DAD²/peso ao nascer > 5 mm²/kg, razão LA:Ao > 1,5 e alto fluxo no ducto foram preditores estatisticamente significativos (P<0,05) da necessidade de fechamento cirúrgico do persistência do ducto arterial em neonatos prematuros com baixo peso ao nascer. Adicionalmente, quando a razão LA:Ao > 1,5 estava associada ao choque, a probabilidade de tratamento cirúrgico aumentou para 78,4%.


Assuntos
Feminino , Humanos , Recém-Nascido , Masculino , Permeabilidade do Canal Arterial/cirurgia , Nascimento Prematuro/cirurgia , Aorta/patologia , Aorta , Peso ao Nascer , Permeabilidade do Canal Arterial/patologia , Permeabilidade do Canal Arterial , Canal Arterial/patologia , Canal Arterial , Átrios do Coração/patologia , Átrios do Coração , Recém-Nascido Prematuro , Modelos Logísticos , Tamanho do Órgão , Valor Preditivo dos Testes , Estudos Prospectivos , Valores de Referência , Curva ROC
20.
Rev Invest Clin ; 65(1): 12-23, 2013.
Artigo em Espanhol | MEDLINE | ID: mdl-23745440

RESUMO

OBJECTIVE: To determine a rate of internal diameter (ID), the narrowest of ductus arteriosus (DA)/body surface area (BSA) in preterm newborns (PTNB) for need for closure of DA either medically or surgically. MATERIAL AND METHODS: Prospective (cohort), held in a Neonatology Service in February 2010 to January 2011. Inclusion criteria were PTNB from 28 to 36 weeks of gestation from 0 to 28 days after birth, which confirmed diagnosis of patent ductus arteriosus (PDA) by echocardiogram, taking the narrowest ID, who did not present heart complex congenital or other major malformations in other systems without pulmonary arterial hypertension, that had not received drug treatment with prostaglandin inhibitors to close the DA. The exclusion criteria for complications of mechanical ventilation (air leaks, atelectasis, etc.) before measurements. BSA was determined based on their weight and height. There were two comparison groups during its evolution, those who finally merited either closure medical or surgical closure or was indicated but the poor conditions of the patient by the same PDA mainly, the procedure was not carried out (Group A) and Group B, those that are not operated or not medically closed DA not being hemodynamically significant [corrected]. Statistical analysis was performed using descriptive statistics and inferential. Significance levels were set at p < 0.05. RESULTS: The study population consisted of 32 patients who were divided into two groups: group A of 13 patients and group B with 19 patients. The study population characteristics between the two groups showed significant difference only in the Apgar Score for the Group B. In multivariate analysis found statistically significant as need for closure of DA only a index ID DA/ BSA when it was > 14. CONCLUSIONS: It is important to take into account a number of known ways to assess whether the DA is hemodynamically significant and therefore should be closed medically or surgically and according to this study, a parameter to requiring its closure is an index ID DA/BSA with a value > 14.


Assuntos
Antropometria , Superfície Corporal , Permeabilidade do Canal Arterial/patologia , Permeabilidade do Canal Arterial/cirurgia , Canal Arterial/patologia , Doenças do Prematuro/patologia , Doenças do Prematuro/cirurgia , Ligadura , Comorbidade , Canal Arterial/diagnóstico por imagem , Permeabilidade do Canal Arterial/diagnóstico por imagem , Feminino , Idade Gestacional , Hemodinâmica , Humanos , Recém-Nascido , Recém-Nascido Prematuro , Doenças do Prematuro/diagnóstico por imagem , Ligadura/estatística & dados numéricos , Masculino , Complicações Pós-Operatórias/epidemiologia , Valor Preditivo dos Testes , Estudos Prospectivos , Sensibilidade e Especificidade , Resultado do Tratamento , Ultrassonografia , Procedimentos Desnecessários
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