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1.
Sci Rep ; 10(1): 14167, 2020 08 25.
Artigo em Inglês | MEDLINE | ID: mdl-32843646

RESUMO

BVES is a transmembrane protein, our previous work demonstrated that single nucleotide mutations of BVES in tetralogy of fallot (TOF) patients cause a downregulation of BVES transcription. However, the relationship between BVES and the pathogenesis of TOF has not been determined. Here we reported our research results about the relationship between BVES and the right ventricular outflow tract (RVOT) stenosis. BVES expression was significantly downregulated in most TOF samples compared with controls. The expression of the second heart field (SHF) regulatory network genes, including NKX2.5, GATA4 and HAND2, was also decreased in the TOF samples. In zebrafish, bves knockdown resulted in looping defects and ventricular outflow tract (VOT) stenosis, which was mostly rescued by injecting bves mRNA. bves knockdown in zebrafish also decreased the expression of SHF genes, such as nkx2.5, gata4 and hand2, consistent with the TOF samples` results. The dual-fluorescence reporter system analysis showed that BVES positively regulated the transcriptional activity of GATA4, NKX2.5 and HAND2 promoters. In zebrafish, nkx2.5 mRNA partially rescued VOT stenosis caused by bves knockdown. These results indicate that BVES downregulation may be associated with RVOT stenosis of non-syndromic TOF, and bves is probably involved in the development of VOT in zebrafish.


Assuntos
Moléculas de Adesão Celular/biossíntese , Proteínas Musculares/biossíntese , Tetralogia de Fallot/genética , Obstrução do Fluxo Ventricular Externo/genética , Anormalidades Múltiplas , Animais , Moléculas de Adesão Celular/genética , Moléculas de Adesão Celular/fisiologia , Criança , Pré-Escolar , Anomalias dos Vasos Coronários , Modelos Animais de Doenças , Regulação para Baixo , Feminino , Forame Oval Patente , Regulação da Expressão Gênica , Coração/embriologia , Proteína Homeobox Nkx-2.5/genética , Proteína Homeobox Nkx-2.5/fisiologia , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Proteínas Musculares/genética , Proteínas Musculares/fisiologia , RNA Mensageiro/genética , Tetralogia de Fallot/complicações , Tetralogia de Fallot/metabolismo , Tetralogia de Fallot/patologia , Obstrução do Fluxo Ventricular Externo/embriologia , Obstrução do Fluxo Ventricular Externo/etiologia , Peixe-Zebra/embriologia , Proteínas de Peixe-Zebra/genética , Proteínas de Peixe-Zebra/fisiologia
2.
Ultrasound Obstet Gynecol ; 43(3): 297-302, 2014 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-23554091

RESUMO

OBJECTIVES: Fetuses with pulmonary outflow tract obstruction (POTO) have altered blood flow to the pulmonary vasculature. We sought to determine whether pulmonary vascular impedance, as assessed by the pulsatility index (PI), is different in fetuses with POTO compared with normal controls. METHODS: Branch pulmonary artery PI was evaluated in age-matched normal control fetuses (n=22) and 20 POTO fetuses (pulmonary stenosis n=15, pulmonary atresia n=5). Pulsed-wave Doppler was performed in the proximal (PA1), mid (PA2) and distal (PA3) branch pulmonary artery. The direction of flow in the ductus arteriosus was noted. The study and control groups were compared with Student's t-test and ANOVA. A linear mixed model evaluated the relationship between PI and ductus arteriosus flow patterns. RESULTS: There was no difference in PI between control, pulmonary stenosis and pulmonary atresia subjects at PA1 and PA2; however, there was a significant difference at PA3. Subjects with pulmonary atresia had a lower PI at PA3 than did controls (P=0.003) and pulmonary stenosis subjects (P=0.003). Subjects with retrograde flow in the ductus arteriosus had lower PIs in PA2 and PA3 than did those with antegrade flow (P=0.01 and 0.005, respectively). The PI in PA3 was lower in fetuses that required prostaglandin postnatally than in those that did not (P=0.008). CONCLUSIONS: Fetuses with pulmonary atresia or severe pulmonary stenosis with retrograde flow in the ductus arteriosus have decreased PI in the distal pulmonary vasculature. Our findings indicate the capacity of the fetal pulmonary vasculature to vasodilate in response to anatomical obstruction of flow.


Assuntos
Alprostadil/administração & dosagem , Canal Arterial/diagnóstico por imagem , Artéria Pulmonar/diagnóstico por imagem , Atresia Pulmonar/diagnóstico por imagem , Estenose da Valva Pulmonar/diagnóstico por imagem , Vasodilatadores/administração & dosagem , Obstrução do Fluxo Ventricular Externo/diagnóstico por imagem , Velocidade do Fluxo Sanguíneo/efeitos dos fármacos , Ecocardiografia Doppler de Pulso , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Masculino , Gravidez , Artéria Pulmonar/anormalidades , Artéria Pulmonar/embriologia , Atresia Pulmonar/tratamento farmacológico , Estenose da Valva Pulmonar/tratamento farmacológico , Estudos Retrospectivos , Sensibilidade e Especificidade , Ultrassonografia Pré-Natal , Obstrução do Fluxo Ventricular Externo/tratamento farmacológico , Obstrução do Fluxo Ventricular Externo/embriologia
3.
Early Hum Dev ; 88(5): 279-85, 2012 May.
Artigo em Inglês | MEDLINE | ID: mdl-22460060

RESUMO

Fetal ventricular outflow tract obstruction (OTO) is congenital heart disease with significant potential for progression before birth as a consequence of the unique nature of the fetal circulation. The pattern of evolution depends upon the timing of development, severity of obstruction and the influence of the OTO on the fetal atrioventricular valve and myocardial function. Critical aortic (AS) or pulmonary (PS) valve stenosis, the two most common forms of fetal OTO, may be associated with progressive ventricular and great artery hypoplasia if presenting early in gestation or with normal ventricular and great artery growth if evolving later in gestation. In some affected fetuses, AS or PS may lead to the evolution of fetal heart failure. This article will review our current understanding of the natural history of fetal AS and PS, experience with fetal intervention and future directions of research.


Assuntos
Doenças Fetais/diagnóstico por imagem , Guias como Assunto , Obstrução do Fluxo Ventricular Externo/diagnóstico por imagem , Feminino , Doenças Fetais/cirurgia , Fetoscopia , Idade Gestacional , Humanos , Gravidez , Ultrassonografia , Obstrução do Fluxo Ventricular Externo/congênito , Obstrução do Fluxo Ventricular Externo/embriologia , Obstrução do Fluxo Ventricular Externo/cirurgia
4.
Circ Res ; 106(3): 495-503, 2010 Feb 19.
Artigo em Inglês | MEDLINE | ID: mdl-20035084

RESUMO

RATIONALE: The genes encoding fibroblast growth factor (FGF) 8 and 10 are expressed in the anterior part of the second heart field that constitutes a population of cardiac progenitor cells contributing to the arterial pole of the heart. Previous studies of hypomorphic and conditional Fgf8 mutants show disrupted outflow tract (OFT) and right ventricle (RV) development, whereas Fgf10 mutants do not have detectable OFT defects. OBJECTIVES: Our aim was to investigate functional overlap between Fgf8 and Fgf10 during formation of the arterial pole. METHODS AND RESULTS: We generated mesodermal Fgf8; Fgf10 compound mutants with MesP1Cre. The OFT/RV morphology in these mutants was affected with variable penetrance; however, the incidence of embryos with severely affected OFT/RV morphology was significantly increased in response to decreasing Fgf8 and Fgf10 gene dosage. Fgf8 expression in the pharyngeal arch ectoderm is important for development of the pharyngeal arch arteries and their derivatives. We now show that Fgf8 deletion in the mesoderm alone leads to pharyngeal arch artery phenotypes and that these vascular phenotypes are exacerbated by loss of Fgf10 function in the mesodermal core of the arches. CONCLUSIONS: These results show functional overlap of FGF8 and FGF10 signaling from second heart field mesoderm during development of the OFT/RV, and from pharyngeal arch mesoderm during pharyngeal arch artery formation, highlighting the sensitivity of these key aspects of cardiovascular development to FGF dosage.


Assuntos
Região Branquial/irrigação sanguínea , Coração Fetal/crescimento & desenvolvimento , Fator 10 de Crescimento de Fibroblastos/fisiologia , Fator 8 de Crescimento de Fibroblasto/fisiologia , Cardiopatias Congênitas/embriologia , Animais , Região Branquial/anormalidades , Região Branquial/embriologia , Cruzamentos Genéticos , Fator 10 de Crescimento de Fibroblastos/biossíntese , Fator 10 de Crescimento de Fibroblastos/deficiência , Fator 10 de Crescimento de Fibroblastos/genética , Fator 8 de Crescimento de Fibroblasto/biossíntese , Fator 8 de Crescimento de Fibroblasto/deficiência , Fator 8 de Crescimento de Fibroblasto/genética , Deleção de Genes , Dosagem de Genes , Genótipo , Cardiopatias Congênitas/genética , Cardiopatias Congênitas/patologia , Ventrículos do Coração/anormalidades , Ventrículos do Coração/embriologia , Mesoderma/embriologia , Mesoderma/metabolismo , Camundongos , Camundongos Mutantes , Obstrução do Fluxo Ventricular Externo/embriologia , Obstrução do Fluxo Ventricular Externo/genética
5.
J Soc Biol ; 203(2): 161-5, 2009.
Artigo em Francês | MEDLINE | ID: mdl-19527629

RESUMO

Developmental genetics of congenital heart diseases have evolved from analysis of embryonic hearts towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Ablation techniques, transgenic animal models and clonal analysis of the developing heart led to identification of different cardiac lineages and their respective roles. The mechanistic approach for great arteries anomalies has led to emerging concepts such as common embryological origin of anatomically different cardiac defects, phenotypic continuum of left heart obstructive defects, or developmental algorithms for cardiac isomerisms. Recent experiments that demonstrated the myocardial rotation of the outflow tract in mouse embryos led to a better understanding of the origin of transposition of the large arteries. This has also raised the hypothesis of a new group of congenital heart anomalies defined as laterality defects limited to a segment of the embryonic heart. These results confirm that genetic heterogeneity of congenital heart defects is related to the heterogeneity of the mechanisms that finally produce the same phenotype.


Assuntos
Aorta/anormalidades , Cardiopatias Congênitas/embriologia , Artéria Pulmonar/anormalidades , Animais , Aorta/embriologia , Linhagem da Célula , Embrião de Galinha , Quimera , Células Clonais/citologia , Coturnix/embriologia , Coração Fetal/crescimento & desenvolvimento , Regulação da Expressão Gênica no Desenvolvimento , Cardiopatias Congênitas/genética , Humanos , Camundongos , Camundongos Transgênicos , Artéria Pulmonar/embriologia , Situs Inversus/embriologia , Situs Inversus/genética , Transposição dos Grandes Vasos/embriologia , Transposição dos Grandes Vasos/genética , Obstrução do Fluxo Ventricular Externo/embriologia , Obstrução do Fluxo Ventricular Externo/genética
6.
Zhonghua Yi Xue Za Zhi ; 87(24): 1709-12, 2007 Jun 26.
Artigo em Chinês | MEDLINE | ID: mdl-17825156

RESUMO

OBJECTIVE: To investigate the changes in the expression of cardiac transcription factors in the cardiac outflow tract (OFT) tissues in the connexin43 knockout homozygotes (Cx43 KO), connexin43 heterozygotes, and connexin43 wild-type mice (Cx43 WT). METHODS: The cDNA was retrotranscribed from the RNA extracted from the OFT tissues of 6 Cx43 KO, 6 Cx43 WT, and 6 Cx43 heterozygotes genotyped by PCR method on the embryonic day (ED) 13.5 and ED 14.5. The biotin-labeled cRNA derived from the transcription of cDNA was fragmented as probes. The probes were hybridized with Affymetrix Mouse Genome 430 2.0 Array. Gene Array Scanner was used to screen the signals of hybridization and detect the expression of genes. The mRNA expression levels of 3 cardiac transcription factors: Sox11, Foxp1, and Tbx20 were measured by real time quantitative RT-PCR. RESULTS: The ratios of the expression of the 6 genes, all cardiac transcription factors: Gata4, Mef2C, Sox4, Sox11, Foxp1, and Tbx20 between the Cx43 KO and Cx43 WT groups were 1:1.41, 1:2.30, 1:3.25, 1:0.71, 1:0.66, and 1:0.54. The expression levels of Sox11 and Foxp1 on ED13.5 in the Cx43 K group were 4.76 +/- 0.19 and 5.08 +/- 0.28 respectively, both significantly lower than those of the Cx43 WT group (5.34 +/- 0.25 and 5.64 +/- 0.15 respectively, both P < 0.01), and expression level of Tbx20 on ED 13.5 in the Cx43 K group was 7.18 +/- 0.16, not significantly different from that of the Cx43 WT group (7.47 +/- 0.27, P > 0.05). The expression levels of the genes Sox11, Foxp1, Tbx20 on ED 14,5 were 4.71 +/- 0.27, 5.25 +/- 0.31, and 7.05 +/- 0.17 respectively, all significantly lower than those of the Cx43 WT group (5.00 +/- 0.19, 5.77 +/- 0.16,) and 7.43 +/- 0.25, all P < 0.05). The results of the expression of these genes by real time PCR analysis showed an excellent concordance with those indicated by the microarray analysis. CONCLUSION: The cardiac transcription factors such as Sox11, Foxp1, and Tbx20 that are differently expressed in the Cx43 KO OFT tissue may be involved in the pathogenesis of the OFT defects.


Assuntos
Conexina 43/genética , Perfilação da Expressão Gênica , Fatores de Transcrição/genética , Obstrução do Fluxo Ventricular Externo/genética , Animais , Feminino , Coração Fetal/embriologia , Coração Fetal/metabolismo , Coração Fetal/patologia , Regulação da Expressão Gênica no Desenvolvimento , Genótipo , Masculino , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Análise de Sequência com Séries de Oligonucleotídeos , Obstrução do Fluxo Ventricular Externo/embriologia
7.
Ann Thorac Surg ; 83(2): 631-9, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17257999

RESUMO

BACKGROUND: Mechanisms leading to left ventricular hypoplasia and endocardial fibroelastosis in the fetus remain unknown. Prevailing theory is that obstruction to blood flow through the left ventricle leads to elevated end-diastolic pressures, compromised myocardial perfusion, and endocardial ischemia. Fetal interventions are now being performed, based on the presumption that they would prevent such pathogenic mechanisms. METHODS: Forty first-trimester fetal sheep (mean gestational age, 53 days) were studied. Severe fetal left ventricular outflow obstruction was created by banding the ascending aorta in 25 fetuses; 15 control fetuses underwent "sham" surgery with thoracotomy. Serial fetal echocardiography was used to assess left ventricular growth and fetal hemodynamics. Findings were correlated to morphologic and histopathologic changes, and intracardiac pressure measurements obtained from fetal cardiac catheterization. RESULTS: Surviving banded fetuses (n = 13) had one of two phenotypes: compensatory left ventricular hypertrophy (n = 7) or noncompensatory left ventricular dilatation (n = 6) with hydrops and severe left ventricular dysfunction. All fetuses had elevated left ventricular end-diastolic pressures (mean, 21 mm Hg; range, 14 to 28 mm Hg), which correlated to the gradient across the ascending aorta (mean, 41 mm Hg; range, 28 to 73 mm Hg). In vivo echocardiography findings were incongruous with those at autopsy, and demonstrated preservation of left ventricular growth indices in all fetuses. Endocardial fibroelastosis and myocardial fibrosis were not observed in any banded fetus. CONCLUSIONS: While early gestational obstruction to flow can compromise left ventricular function in the fetus, it does not retard normal growth. Similarly, an elevated left ventricular end-diastolic pressure is not sufficient to cause myocardial fibrosis or endocardial fibroelastosis in the fetus.


Assuntos
Estenose da Valva Aórtica/embriologia , Modelos Animais de Doenças , Ovinos , Animais , Aorta , Estenose da Valva Aórtica/diagnóstico por imagem , Estenose da Valva Aórtica/patologia , Dilatação Patológica , Ecocardiografia , Edema/embriologia , Edema/etiologia , Desenvolvimento Embrionário , Coração Fetal/patologia , Idade Gestacional , Coração/embriologia , Ventrículos do Coração , Hipertensão/etiologia , Hipertensão/patologia , Hipertrofia Ventricular Esquerda/embriologia , Hipertrofia Ventricular Esquerda/etiologia , Hipertrofia Ventricular Esquerda/patologia , Ligadura , Ultrassonografia Pré-Natal , Disfunção Ventricular Esquerda/embriologia , Disfunção Ventricular Esquerda/etiologia , Obstrução do Fluxo Ventricular Externo/embriologia , Obstrução do Fluxo Ventricular Externo/etiologia
8.
Dev Biol ; 296(2): 421-36, 2006 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-16839542

RESUMO

Previous studies have shown that Foxc1 and Foxc2, closely related Fox transcription factors, have interactive roles in cardiovascular development. However, little is known about their functional overlap during early heart morphogenesis. Here, we show that Foxc genes are coexpressed in a novel heart field, the second heart field, as well as the cardiac neural crest cells (NCCs), endocardium, and proepicardium. Notably, compound Foxc1; Foxc2 mutants have a wide spectrum of cardiac abnormalities, including hypoplasia or lack of the outflow tract (OFT) and right ventricle as well as the inflow tract, dysplasia of the OFT and atrioventricular cushions, and abnormal formation of the epicardium, in a dose-dependent manner. Most importantly, in the second heart field, compound mutants exhibit significant downregulation of Tbx1 and Fgf8/10 and a reduction in cell proliferation. Moreover, NCCs in compound mutants show extensive apoptosis during migration, leading to a failure of the OFT septation. Taken together, our results demonstrate that Foxc1 and Foxc2 play pivotal roles in the early processes of heart development, especially acting upstream of the Tbx1-FGF cascade during the morphogenesis of the OFT.


Assuntos
Fatores de Transcrição Forkhead/fisiologia , Coração/embriologia , Animais , Linhagem da Célula/genética , Linhagem da Célula/fisiologia , Feminino , Fatores de Crescimento de Fibroblastos/fisiologia , Fatores de Transcrição Forkhead/deficiência , Fatores de Transcrição Forkhead/genética , Coração/fisiopatologia , Ventrículos do Coração/embriologia , Ventrículos do Coração/metabolismo , Ventrículos do Coração/fisiopatologia , Camundongos , Camundongos Knockout , Mutação , Proteínas com Domínio T/fisiologia , Obstrução do Fluxo Ventricular Externo/embriologia , Obstrução do Fluxo Ventricular Externo/genética , Obstrução do Fluxo Ventricular Externo/metabolismo
9.
Am J Cardiol ; 92(12): 1485-7, 2003 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-14675595

RESUMO

In 10 fetuses with tetralogy of Fallot, 9 lacked high velocity across the obstructed right ventricular outflow tract, which we conclude was due to the parallel flow circulations created by the combination of ventricular septal defect and arterial duct. The normally high resistance in the fetal pulmonary vascular system substantially exceeds the resistance of the systemic vasculature, resulting in the maintenance of right-to-left ductal flow in all 10 fetuses who had only moderate pulmonary obstruction.


Assuntos
Artéria Pulmonar/embriologia , Tetralogia de Fallot/embriologia , Obstrução do Fluxo Ventricular Externo/embriologia , Velocidade do Fluxo Sanguíneo/fisiologia , Feminino , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/fisiopatologia , Humanos , Modelos Cardiovasculares , Projetos Piloto , Gravidez , Artéria Pulmonar/diagnóstico por imagem , Artéria Pulmonar/fisiopatologia , Tetralogia de Fallot/diagnóstico por imagem , Tetralogia de Fallot/fisiopatologia , Ultrassonografia Pré-Natal , Obstrução do Fluxo Ventricular Externo/diagnóstico por imagem , Obstrução do Fluxo Ventricular Externo/fisiopatologia
10.
Birth Defects Res C Embryo Today ; 69(1): 38-45, 2003 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-12768656

RESUMO

The cardiac outflow tract is the site of anomalies that affect a substantial proportion of individuals with congenital heart defects. The morphogenesis of this site is complex, and requires coordinated development of many cell types and tissues. It is therefore not surprising that developmental mistakes arise here, and that the steps and mechanisms of morphogenesis are still controversial and poorly understood, despite advances in molecular techniques. Recent findings have provided new insight into mechanisms of outflow tract morphogenesis, including clarification of its origins and the fate of cardiomyocytes, as well as invading cell populations. Application of new and old techniques and a wide range of approaches to tackle the unanswered questions about the outflow tract calls for collaboration among investigators from different disciplines including anatomists, physiologists, and molecular biologists.


Assuntos
Cardiopatias Congênitas/embriologia , Coração/embriologia , Obstrução do Fluxo Ventricular Externo/embriologia , Animais , Aorta Torácica/anormalidades , Aorta Torácica/embriologia , Valva Aórtica/anormalidades , Valva Aórtica/embriologia , Apoptose , Embrião de Galinha , Coração Fetal/anormalidades , Coração Fetal/crescimento & desenvolvimento , Defeitos dos Septos Cardíacos/embriologia , Septos Cardíacos/embriologia , Ventrículos do Coração/embriologia , Humanos , Morfogênese , Miocárdio/citologia , Artéria Pulmonar/anormalidades , Artéria Pulmonar/embriologia , Valva Pulmonar/anormalidades , Valva Pulmonar/embriologia , Peixe-Zebra/embriologia
11.
Am J Med Genet ; 97(4): 297-303, 2000.
Artigo em Inglês | MEDLINE | ID: mdl-11376441

RESUMO

Congenital heart defects represent the most common group of human birth defects; they occur in 0.8-1% of live births and in 10% of spontaneously aborted fetuses. Heart defects seen in newborns typically represent specific morphogenetic defects of individual chambers or regions of the heart, with the remaining portions of the heart developing relatively normally. These developmental defects are commonly compatible with the intrauterine circulation, where the pulmonary circulation and systemic circulation work in concert, resulting in adequate embryonic growth and development. After delivery, however, significant cardiac symptoms develop. In many of these disorders, cyanosis is the earliest feature, while in others, cardiovascular collapse occurs before diagnosis. In this review, obstruction of the left and right sides of the heart are discussed. In these disorders, ventricular hypoplasia resulting in single ventricle physiologic characteristics is typical. The unaffected ventricle in these cases is usually morphologically and physiologically normal. These conditions include hypoplastic left heart syndrome and aortic coarctation on the left side, pulmonary stenosis, tetralogy of Fallot, and other complex right ventricle obstructive disorders. Many of these disorders occur in association with genetic syndromes identifiable by dysmorphic features. In some cases, the gene(s) has been identified or the genetic pathway has been defined. The purpose of this review is to discuss the molecular determinants of these obstructive disorders.


Assuntos
Obstrução do Fluxo Ventricular Externo/genética , Anormalidades Múltiplas/embriologia , Anormalidades Múltiplas/genética , Adulto , Síndrome de Alagille/embriologia , Síndrome de Alagille/genética , Síndrome de Alagille/patologia , Animais , Aorta/embriologia , Aorta Torácica/embriologia , Coartação Aórtica/embriologia , Coartação Aórtica/genética , Valva Aórtica/embriologia , Valva Aórtica/patologia , Fatores de Transcrição Hélice-Alça-Hélice Básicos , Linhagem da Célula , Movimento Celular , Criança , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/fisiologia , Síndrome de DiGeorge/embriologia , Síndrome de DiGeorge/genética , Síndrome de DiGeorge/patologia , Coração Fetal/patologia , Heterogeneidade Genética , Cardiopatias Congênitas/embriologia , Cardiopatias Congênitas/genética , Hemorreologia , Humanos , Hipertensão Pulmonar/genética , Recém-Nascido , Camundongos , Camundongos Knockout , Morfogênese/genética , Crista Neural/citologia , Artéria Pulmonar/embriologia , Tetralogia de Fallot/genética , Tetralogia de Fallot/metabolismo , Fatores de Transcrição/genética , Fatores de Transcrição/fisiologia , Obstrução do Fluxo Ventricular Externo/embriologia , Proteínas de Peixe-Zebra
12.
Am J Perinatol ; 15(4): 237-42, 1998 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-9565221

RESUMO

We sought to determine the effect of prenatal diagnosis of congenital heart disease, specifically critical left heart obstructive (LHO) lesions, on postnatal morbidity and mortality. Several studies have found no significant improvement in mortality in infants with prenatally detected heart disease compared to infants diagnosed postnatally. Few reports have focused on the specific effects of prenatal diagnosis on the perinatal course. All newborns with LHO seen between July 1993 and July 1996 were identified and divided into two groups based on prenatal vs. postnatal diagnosis. Hospital records were reviewed for demographic and outcome variables. The outcome variables included degree of metabolic acidosis, hemodynamic instability, noncardiac organ dysfunction, delayed surgical intervention, and surgical mortality. Twenty-three fetuses were diagnosed with LHO lesions. Postnatally, 45 newborns presented with LHO anomalies. Prenatal diagnosis resulted in avoidance of hemodynamic compromise, reduced organ dysfunction, and reduced surgical delays. There was no significant difference in surgical mortality. Prenatal diagnosis significantly decreases postnatal morbidity in infants with LHO lesions. Although surgical results are similar, the reduced morbidity decreases surgical delays and potentially may impact on neurodevelopmental outcomes.


Assuntos
Doenças Fetais/diagnóstico , Comunicação Interventricular/diagnóstico , Mortalidade Infantil , Diagnóstico Pré-Natal , Obstrução do Fluxo Ventricular Externo/diagnóstico , Ecocardiografia Doppler , Feminino , Doenças Fetais/embriologia , Doenças Fetais/mortalidade , Doenças Fetais/cirurgia , Idade Gestacional , Comunicação Interventricular/embriologia , Comunicação Interventricular/mortalidade , Comunicação Interventricular/cirurgia , Humanos , Recém-Nascido , Masculino , Prontuários Médicos , Morbidade , Estudos Retrospectivos , Obstrução do Fluxo Ventricular Externo/embriologia , Obstrução do Fluxo Ventricular Externo/mortalidade , Obstrução do Fluxo Ventricular Externo/cirurgia
13.
Ann Thorac Surg ; 65(5): 1388-90, 1998 May.
Artigo em Inglês | MEDLINE | ID: mdl-9594871

RESUMO

BACKGROUND: Cardiac rhabdomyoma is the most common primary heart tumor in infants. Spontaneous regression of such tumors is common, particularly with smaller lesions, followed by resolution of symptoms. Based on our data on spontaneous involution, our institutional philosophy has been one of expectant management in the absence of life-threatening symptoms. However, surgical intervention sometimes is required for the extirpation of a rhabdomyoma from the left ventricular outflow tract. METHODS: A retrospective review was conducted of 30 children in whom a rhabdomyoma was diagnosed over a 27-year period. RESULTS: Twenty-three percent (7/30) of the children required surgical extirpation of the tumor from within their left ventricular outflow tract, although a total of 94% had left ventricular involvement. There were no deaths. To date, no child has required reexcision of tumor. CONCLUSIONS: The natural history of rhabdomyoma is one of spontaneous regression (the 23 children who did not undergo surgical intervention are alive and continue to be followed up medically). We recommend surgical excision to alleviate acute outflow tract obstruction with reliance on the tumor's natural history of regression to achieve long-term freedom from reoperation. Although operation has been recognized as lifesaving, we were somewhat surprised to find that greater than 20% of our pediatric population required operative intervention.


Assuntos
Neoplasias Cardíacas/complicações , Rabdomioma/complicações , Obstrução do Fluxo Ventricular Externo/etiologia , Feminino , Seguimentos , Neoplasias Cardíacas/embriologia , Neoplasias Cardíacas/fisiopatologia , Neoplasias Cardíacas/cirurgia , Septos Cardíacos/patologia , Ventrículos do Coração/patologia , Humanos , Lactente , Recém-Nascido , Masculino , Regressão Neoplásica Espontânea , Reoperação , Estudos Retrospectivos , Rabdomioma/embriologia , Rabdomioma/fisiopatologia , Rabdomioma/cirurgia , Taxa de Sobrevida , Obstrução do Fluxo Ventricular Externo/embriologia , Obstrução do Fluxo Ventricular Externo/cirurgia
14.
J Am Coll Cardiol ; 25(3): 739-45, 1995 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-7860923

RESUMO

OBJECTIVES: This study was designed to define patterns of pulmonary artery and aortic growth in fetuses with tetralogy of Fallot and to determine the potential for in utero progression of right ventricular outflow tract obstruction. BACKGROUND: Despite an abundance of reports documenting the prenatal diagnosis of tetralogy of Fallot, there is little information about its course in utero. METHODS: Pulmonary artery and ascending aortic diameters were measured from prenatal and postnatal echocardiograms of 16 fetuses with tetralogy of Fallot, initially studied at 23.6 +/- 6.0 (mean +/- SD) weeks of gestation. Fetuses were classified retrospectively as having mild and severe tetralogy of Fallot according to whether the pulmonary artery circulation was (severe, n = 5) or was not (mild, n = 11) ductus arteriosus dependent at birth. RESULTS: Initial main pulmonary artery diameter was small for gestational age in 9 fetuses, large in 2 and normal in 5 compared with data from 57 gestational age-adjusted normal fetal studies; it was significantly smaller in the group with severe tetralogy of Fallot (p = 0.05). The initial main pulmonary artery/aortic diameter ratio was also smaller for the group with severe tetralogy of Fallot (0.50 +/- 0.15 vs. 0.73 +/- 0.14 in the group with mild tetralogy of Fallot, p = 0.01). Initial aortic and branch pulmonary artery diameters tended to be normal or near normal for age. In eight fetuses serially studied, main and branch pulmonary artery growth was normal or reduced during prenatal follow-up. Pulmonary artery growth was most reduced in two fetuses in the group with severe tetralogy of Fallot, resulting in pulmonary artery hypoplasia at birth. Two fetuses with valvular pulmonary atresia at birth had previously shown anterograde pulmonary outflow in midgestation, suggesting progression of pulmonary outflow obstruction. CONCLUSIONS: The postnatal spectrum of pulmonary artery size in tetralogy of Fallot can be attributed to variable patterns of growth in utero. Main pulmonary artery size, main pulmonary artery/aortic diameter ratio and pattern of pulmonary artery growth may be predictive of the severity of postnatal pulmonary outflow obstruction. Pulmonary atresia can develop in utero in some fetuses with tetralogy of Fallot.


Assuntos
Aorta/embriologia , Artéria Pulmonar/embriologia , Tetralogia de Fallot/embriologia , Obstrução do Fluxo Ventricular Externo/embriologia , Aorta/diagnóstico por imagem , Progressão da Doença , Feminino , Doenças Fetais/diagnóstico por imagem , Doenças Fetais/fisiopatologia , Humanos , Gravidez , Artéria Pulmonar/diagnóstico por imagem , Estudos Retrospectivos , Tetralogia de Fallot/diagnóstico por imagem , Ultrassonografia Doppler , Ultrassonografia Pré-Natal , Obstrução do Fluxo Ventricular Externo/diagnóstico por imagem
15.
Cardiology ; 86(6): 524-6, 1995.
Artigo em Inglês | MEDLINE | ID: mdl-7585766

RESUMO

The case of a 66-year-old female patient with a tumor located in the right ventricular outflow tract is reported. Histologic examination of an intraoperative biopsy revealed that the tumor was an intracardiac ectopic thyroid. We performed conservative surgery with partial resection of the mass. After 5 years, the patient is asymptomatic and leading a normal life. The authors examine the relation between the embryologic development of the primitive heart and the thyroid primordium and suggest the hypothesis of ectopic thyroid location in the right- or left-ventricular outflow tract.


Assuntos
Coristoma/embriologia , Neoplasias Cardíacas/embriologia , Ventrículos do Coração/embriologia , Glândula Tireoide , Obstrução do Fluxo Ventricular Externo/embriologia , Idoso , Coristoma/patologia , Coristoma/cirurgia , Feminino , Neoplasias Cardíacas/patologia , Neoplasias Cardíacas/cirurgia , Ventrículos do Coração/patologia , Ventrículos do Coração/cirurgia , Humanos , Glândula Tireoide/embriologia , Obstrução do Fluxo Ventricular Externo/patologia , Obstrução do Fluxo Ventricular Externo/cirurgia
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