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1.
J Pediatr ; 216: 67-72, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31668886

RESUMO

OBJECTIVES: To utilize a large multicenter neonatal cohort to describe survival and clinical outcomes of very low birth weight (VLBW) or preterm infants with ectopia cordis. STUDY DESIGN: Data were prospectively collected on 2 211 262 infants (born 2000-2017) from 845 US centers. Both VLBW (401-1500 g or 22-29 weeks of gestation) and non-VLBW (>1500 g and >29 weeks) infants had diagnoses or anatomic descriptors consistent with ectopia cordis and/or pentalogy of Cantrell. The primary outcome was neonatal survival, defined as hospital discharge or initial length of stay of ≥12 months. RESULTS: In total, 180 infants had ectopia cordis, 135 (76%) with findings of pentalogy of Cantrell. VLBW infants comprised 52% of the population. VLBW mortality was 96% with 79% dying within 12 hours, compared with 59% and 36%, respectively, for non-VLBW. One-third of VLBW infants received life support compared with 65% of non-VLBW. Surgery was reported for 34% of VLBW and 68% of non-VLBW infants. Congenital heart disease was reported in 8% of VLBW and 36% of non-VLBW, with conotruncal abnormalities most common. Survival exceeded 50% for infants >2500 g and >37 weeks of gestation. CONCLUSIONS: Survival of VLBW infants with ectopia cordis was poor and substantially worse compared with non-VLBW, with notable discrepancies in resuscitative efforts and surgical interventions. Although gestational age and weight strongly influence current survival, more detailed information regarding the severity of cardiac and noncardiac abnormalities is required to fully determine prognosis and inform counseling.


Assuntos
Ectopia Cordis/mortalidade , Tempo de Internação/estatística & dados numéricos , Estudos de Casos e Controles , Pré-Escolar , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Recém-Nascido de muito Baixo Peso , Estudos Prospectivos , Estados Unidos/epidemiologia
2.
Fetal Pediatr Pathol ; 39(1): 78-84, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31215820

RESUMO

Introduction: Fetuses with trisomy 18 will occasionally also have ectopia cordis. Case report: A routine ultrasound scan at 12 weeks' gestation revealed a large fetal anterior thoraco-abdominal wall defect with an extrathoracic heart and a liver-containing omphalocele. Chorionic villus sampling revealed a 47,XY,+18 karyotype. Additional anomalies detected after termination of the pregnancy included a cleft lip and palate and left radial agenesis. Conclusions: The prenatal diagnosis of ectopia cordis associated with aneuploidy can be made in the first trimester of pregnancy. An extrathoracic heart located in a liver-containing omphalocoele should be considered a thoraco-abdominal ectopia cordis rather than pentalogy of Cantrell.


Assuntos
Ectopia Cordis/patologia , Pentalogia de Cantrell/patologia , Síndrome da Trissomía do Cromossomo 18/patologia , Adulto , Feminino , Idade Gestacional , Hérnia Umbilical/patologia , Humanos , Pentalogia de Cantrell/diagnóstico , Gravidez , Primeiro Trimestre da Gravidez/metabolismo , Diagnóstico Pré-Natal/métodos , Síndrome da Trissomía do Cromossomo 18/diagnóstico , Ultrassonografia Pré-Natal/métodos
4.
Rev Bras Ginecol Obstet ; 41(5): 352-356, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30912088

RESUMO

Pentalogy of Cantrell (PC) is a rare congenital anomaly characterized by changes in the mesodermal median structures and congenital heart disease, often with a poor prognosis. In 1958, Cantrell et al2 defined the full spectrum of the syndrome with the following anomalies: defects of the anterior diaphragm, of the lower part of the sternum, of the supraumbilical region and the abdominal wall, of the diaphragmatic pericardium, and various intracardiac congenital abnormalities. The present report describes a case of ectopia cordis associated with PC and the importance of the participation of a multidisciplinary team in the treatment of this condition.


Assuntos
Ectopia Cordis/diagnóstico por imagem , Pentalogia de Cantrell/diagnóstico por imagem , Ultrassonografia Pré-Natal , Adulto , Diagnóstico Diferencial , Evolução Fatal , Feminino , Cardiopatias Congênitas/diagnóstico por imagem , Humanos , Recém-Nascido , Imagem por Ressonância Magnética , Gravidez
5.
Fetal Pediatr Pathol ; 38(2): 127-137, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30600745

RESUMO

BACKGROUND: Ectopia cordis (EC) is a congenital anomaly associated with heart defects and extracardiac malformations. OBJECTIVES: We determined the various presentations of EC diagnosed in our center between 2010 and 2017. RESULTS: Seven fetuses from six pregnancies with EC were detected, five during the first trimester. Three were from multiple pregnancies, and both twins had EC in one monochorionic-monoamniotic pregnancy. Abdominal wall defects were detected in six fetuses. Kyphoscoliosis, cephalocele, clubfoot and short umbilical cord were other abnormalities. Five fetuses were terminated, one fetus died in utero, and one baby died on day two of life. Postnatal evaluation performed in all cases additionally detected cleft lips/palates in two fetuses and tetralogy of Fallot in one. CONCLUSION: Outcome is poor for these fetuses, EC can occur in a multiple pregnancy, most of the abnormalities can be identified in the first trimester and fetopsy continues to add information to the intrauterine diagnosis.


Assuntos
Anormalidades Múltiplas/patologia , Ectopia Cordis/patologia , Feto/patologia , Cardiopatias Congênitas/patologia , Parede Abdominal/anormalidades , Ectopia Cordis/diagnóstico , Feminino , Cardiopatias Congênitas/diagnóstico , Humanos , Gravidez , Primeiro Trimestre da Gravidez , Diagnóstico Pré-Natal/métodos , Ultrassonografia Pré-Natal/métodos
6.
Arq. bras. cardiol ; 111(3 supl.1): 204-204, set., 2018. tab.
Artigo em Português | Sec. Est. Saúde SP, SESSP-IDPCPROD, Sec. Est. Saúde SP | ID: biblio-1046134

RESUMO

INTRODUÇÃO: Os beta-bloqueadores (BB) são os medicamentos de escolha para tratar a ectopia ventricular (EV), mas não há estudos que comparem a diferença entre a resposta de Succinato de Metoprolol e Atenolol no controle EV. MÉTODOS: Ensaio de crossover duplo-cego randomizado com 2 grupos. O primeiro começou com Atenolol e mudou para Succinato de Metocrolol (A-S). O segundo começou com Succinato de Metocrolol e mudou para Atenolol (S-A). Cada etapa teve um intervalo de tempo mínimo de 15 dias, para garantir o washout adequado da medicação anterior. Foram incluídos pacientes ≥ 18 anos, com fração de ejeção do ventrículo esquerdo ≥40% e uma taxa de VE ≥5%. O desfecho primário foi o número absoluto e a porcentagem de EV observada em Holter de 24h. O questionário de qualidade de vida (QVFAv2) e a preferência do paciente foram os desfechos secundários. O teste de Mann-Whitney foi utilizado para variáveis quantitativas e o teste exato de Fisher para variáveis qualitativas...(AU)


Assuntos
Humanos , Atenolol , Ectopia Cordis/tratamento farmacológico , Metoprolol
7.
Arch Gynecol Obstet ; 298(4): 841-842, 2018 10.
Artigo em Inglês | MEDLINE | ID: mdl-30145686

RESUMO

We report images of the 7th case worldwide of a twin fetus with a complete isolated ectopia cordis in a dichorionic diamniotic twin gestation. There is no consanguinity, family history of abnormalities, IVF, or first trimester medication. The diagnosis of this isolated anomaly was done at 23 weeks in one fetus, while the other had normal morphology; the pregnancy was complicated by preterm labor and a cesarean delivery followed at 34 weeks. The affected baby weighed 1800 g and had an outcome complicated by episodes of desaturation and deceased at day 8. Parents did not wish either in utero termination of pregnancy or postnatal surgery for reintegration in the thorax and chose instead palliative care.


Assuntos
Doenças em Gêmeos/diagnóstico , Ectopia Cordis/diagnóstico , Diagnóstico Pré-Natal , Adulto , Feminino , Humanos , Recém-Nascido , Gravidez
9.
Rev. ecuat. pediatr ; 19(1): 25-27, enero 2018.
Artigo em Espanhol | LILACS | ID: biblio-996426

RESUMO

Ectopia cordis es el desplazamiento completo o parcial del corazón fuera de la cavidad torácica, producido por un defecto congénito en la fusión de la pared torácica anterior dando como resultado una ubicación torácica adicional del corazón. Su prevalencia estimada es de 5.5-7.9 por millón de nacidos vivos. Se presenta el caso de un recién nacido varón de 15 h de edad, que pesaba 2.25 Kg, con ectopia cordis, con signos de dificultad respiratoria y cianosis periférica. El paciente fallece antes de que cualquier intervención quirúrgica se pudiera llevar a cabo


Ectopia cordis is the complete or partial displacement of the heart outside the thoracic cavity, produced by a congenital defect in the fusion of the anterior chest wall resulting in an additional thoracic location of the heart. Its estimated prevalence is 5.5-7.9 per million live births. We present the case of a 15-h-old male newborn, weighing 2.25 kg, with ectopia cordis, with signs of respiratory distress and peripheral cyanosis. The patient dies before any surgical intervention can be carried out


Assuntos
Humanos , Masculino , Recém-Nascido , Anormalidades Congênitas , Ectopia Cordis , Cardiopatias Congênitas , Mortalidade Neonatal Precoce
10.
J Plast Reconstr Aesthet Surg ; 71(3): 384-393, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29029959

RESUMO

BACKGROUND: Repairing body wall defects is a critical step in the treatment of some congenital deformities, and this procedure may need the help from plastic surgeons. Although there are many articles about congenital deformities, body wall defects of these malformations are rarely studied as independent targets. METHODS: In this article, the authors present an LDT classification for congenital body wall defects according to the position of the defects, the tissue layers involved, and the surgical urgency, each of which is represented by letters L, D, and T, respectively. That is, the defects in different areas (L), full-thickness (D1), or partial (D0A, D0B) defects, defects needing instant repair (T2), semi-elective repair (T1), or elective repair (T0). Based on this classification system, the authors have performed body wall reconstruction on two pairs of thoraco-omphalopagus twins, one pair of ischiopagus tetrapus twins, and an infant and an adult, both of whom were diagnosed with pentalogy of Cantrell associated with ectopia cordis. RESULTS: Except for one pair of thoraco-omphalopagus twins who died after emergency separation, all the other patients survived. Another pair of thoraco-omphalopagus twins suffered from wound dehiscence and partial flap necrosis, respectively, after surgery. An expanded polytetrafluoroethylene mesh in one sister of the ischiopagus twins was removed because of infection. CONCLUSIONS: LDT classification not only can help doctors categorise different congenital body wall defects rapidly and easily, but can also guide the reconstruction of these defects. It may have clinical value to plastic surgeons to some extent.


Assuntos
Ectopia Cordis/cirurgia , Pentalogia de Cantrell/cirurgia , Procedimentos Cirúrgicos Reconstrutivos/métodos , Procedimentos Cirúrgicos Torácicos/métodos , Gêmeos Unidos/cirurgia , Adulto , Feminino , Humanos , Lactente , Masculino , Complicações Pós-Operatórias , Resultado do Tratamento
12.
Ethiop J Health Sci ; 27(2): 203-205, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-28579717

RESUMO

BACKGROUND: Ectopia Cordis is defined as complete or partial displacement of the heart outside the thoracic cavity. It is a rare congenital defect with failure of fusion of the sternum with extra thoracic location of the heart. The estimated prevalence of this case is 5.5 to 7.9 per million live births. CASE PRESENTATION: We had a case of a 16-hour-old male neonate weighing 2.9kg with externally visible, beating heart over the chest wall. Initial treatment included covering the heart with sterile-saline soaked dressing, starting systemic antibiotics and supportive care. A staged surgical approach to this defect with the initial aim of replacement of the heart to the thoracic cavity was opted. The neonate died twenty minutes after the surgical intervention due to cardiogenic shock despite adequate resuscitative measures. CONCLUSION: This case report underscores the missed opportunity of antenatal ultra-sonographic diagnosis and the challenge of Ectopia Cordis treatment in Ethiopia.


Assuntos
Ectopia Cordis/cirurgia , Etiópia , Evolução Fatal , Humanos , Recém-Nascido , Masculino
13.
BMJ Support Palliat Care ; 7(1): 102-104, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27101836

RESUMO

Complete ectopia cordis in the newborn represents a significant management challenge. There are minimal data available to inform optimal clinical care for those infants with coexisting complex congenital heart disease who are therefore not candidates for surgical intervention. The exteriorisation of the heart and absence of the pericardial sac requires meticulous wound care to prevent desiccation of the myocardium and to minimise infection risk. Additionally, the technique selected must address the risk of occlusion of the cardiac vascular pedicle and abrasion between the mobile myocardium and dressing surface. We report a novel approach to wound management and integrated palliative care that enabled community-based care. Our patient, a full-term male infant with complete ectopia cordis was born in good condition by assisted vaginal delivery. He was discharged from hospital on day 8 and was cared for in the community until his demise from cardiac failure on day 15.


Assuntos
Ectopia Cordis/terapia , Cuidados Paliativos/métodos , Evolução Fatal , Humanos , Recém-Nascido , Masculino
14.
Pediatr Cardiol ; 38(3): 531-538, 2017 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-27995289

RESUMO

Ectopia cordis (EC) is a rare congenital anomaly often associated with congenital heart disease (CHD). There is a lack of contemporary information on EC diagnosed prenatally. We sought to combine the experiences of two regional referral centers in order to evaluate current outcomes for EC. Clinical, echocardiographic features and perinatal outcomes of fetuses with EC managed at two large cardiac centers from 1995 to 2014 were retrospectively reviewed. Seventeen fetuses with EC were diagnosed at a median gestational age of 23 weeks (range 17-36). There were 6 thoracic EC and 11 thoracoabdominal. Fifteen had associated CHD: 10 conotruncal defects, 2 tricuspid atresia, 1 aortic stenosis, 1 atrial septal defect, and 1 atrioventricular septal defect. There were 2 terminations of pregnancy, 2 fetal deaths, 2 lost to follow-up, and 11 live born. Mean gestational age at birth was 36.4 weeks (range 26-39). Three patients died shortly after birth with comfort care, and 8 were actively managed. Six patients underwent postnatal cardiac intervention and are currently alive with a mean follow-up of 7.3 years (range 1.4-11.4), 2 of them with chronic dependency on ventilatory support. Two patients without CHD died after attempted chest closure. When diagnosed in utero, a high proportion of pregnancy termination or fetal demise is expected. In our cohort, conotruncal anomalies were the most common associated CHD. Though mortality in actively managed patients was not as high as previously reported, and cardiac surgical intervention may be achieved, EC is still associated with high mortality and significant long-term morbidity.


Assuntos
Procedimentos Cirúrgicos Cardíacos/métodos , Ecocardiografia , Ectopia Cordis/diagnóstico por imagem , Ectopia Cordis/mortalidade , Ultrassonografia Pré-Natal , Adolescente , Adulto , Bases de Dados Factuais , Ectopia Cordis/cirurgia , Feminino , Feto/diagnóstico por imagem , Idade Gestacional , Humanos , Lactente , Recém-Nascido , Masculino , Gravidez , Resultado da Gravidez , Estudos Retrospectivos , Estados Unidos , Adulto Jovem
15.
Semin Ultrasound CT MR ; 36(6): 522-36, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26614134

RESUMO

Ventral body wall defects (VBWDs) are one of the main categories of human congenital malformations, representing a wide and heterogeneous group of defects sharing a common feature, that is, herniation of one or more viscera through a defect in the anterior body wall. Gastroschisis and omphalocele are the 2 most common congenital VBWDs. Other uncommon anomalies include ectopia cordis and pentalogy of Cantrell, limb-body wall complex, and bladder and cloacal exstrophy. Although VBWDs are associated with multiple abnormalities with distinct embryological origins and that may affect virtually any system organs, at least in relation to anterior body wall defects, they are thought (except for omphalocele) to share a common embryologic mechanism, that is, a failure involving the lateral body wall folds responsible for closing the thoracic, abdominal, and pelvic portions of the ventral body wall during the fourth week of development. Additionally, many of the principles of diagnosis and management are similar for these conditions. Fetal ultrasound (US) in prenatal care allows the diagnosis of most of such defects with subsequent opportunities for parental counseling and optimal perinatal management. Fetal magnetic resonance imaging may be an adjunct to US, providing global and detailed anatomical information, assessing the extent of defects, and also helping to confirm the diagnosis in equivocal cases. Prenatal imaging features of VBWDs may be complex and challenging, often requiring from the radiologist a high level of suspicion and familiarity with the imaging patterns. Because an appropriate management is dependent on an accurate diagnosis and assessment of defects, radiologists should be able to recognize and distinguish between the different VBWDs and their associated anomalies. In this article, we review the relevant embryology of VBWDs to facilitate understanding of the pathologic anatomy and diagnostic imaging approach. Features will be illustrated with prenatal US and magnetic resonance imaging and correlated with postnatal and clinical imaging.


Assuntos
Parede Abdominal/anormalidades , Extrofia Vesical/diagnóstico , Ectopia Cordis/diagnóstico , Imagem por Ressonância Magnética/métodos , Ultrassonografia Pré-Natal/métodos , Parede Abdominal/diagnóstico por imagem , Parede Abdominal/patologia , Extrofia Vesical/embriologia , Diagnóstico Diferencial , Ectopia Cordis/embriologia , Feminino , Gastrosquise/diagnóstico , Gastrosquise/embriologia , Hérnia Umbilical/diagnóstico , Hérnia Umbilical/embriologia , Humanos , Aumento da Imagem/métodos , Masculino
16.
Artigo em Inglês | MEDLINE | ID: mdl-26193979

RESUMO

OBJECTIVE: To describe a case of cardiac malposition in a cat, and the successful management of the anomaly. CASE DESCRIPTION: A 2-year-old male neutered male British Shorthair cat weighing 7.58 kg was referred for bicavitary effusion. Ultrasonography and echocardiography demonstrated displacement of the heart into the abdomen through a diaphragmatic defect. Clinical signs of right-sided congestive heart failure were attributed to mechanical restriction of diastolic function by a constrictive segment of fibrous pericardium and to impaired venous return due to a kink in the caudal vena cava. Surgical repositioning of the heart into the thoracic cavity and a subtotal pericardectomy were performed, and the diaphragmatic defect was repaired. The patient recovered well postoperatively. NEW OR UNIQUE INFORMATION PROVIDED: The diagnosis and management of cardiac malposition has not been previously described in cats. With timely diagnosis and surgical intervention, a favorable outcome is possible.


Assuntos
Doenças do Gato/patologia , Ecocardiografia/veterinária , Ectopia Cordis/veterinária , Insuficiência Cardíaca/veterinária , Animais , Doenças do Gato/diagnóstico , Doenças do Gato/cirurgia , Gatos , Ectopia Cordis/diagnóstico , Ectopia Cordis/cirurgia , Insuficiência Cardíaca/cirurgia , Masculino , Pericardiectomia/veterinária , Pericárdio
17.
BMC Res Notes ; 8: 318, 2015 Jul 29.
Artigo em Inglês | MEDLINE | ID: mdl-26219662

RESUMO

BACKGROUND: Pentalogy of Cantrell is a rare syndrome, first described by Cantrell and co-workers in 1958. The syndrome is characterized by the presence of five major congenital defects involving the diaphragm, abdominal wall, the diaphragmatic pericardium, lower sternum and various congenital intra-cardiac abnormalities. The syndrome has never been reported in Tanzania, although may have been reported from other African countries. Survival rate of the complete form of pentalogy of Cantrell is as low as 20%, but recent studies have reported normal growth achieved by 6 years of age where corrective surgeries were done; showing that surgical repair early in life is essential for survival. CASE PRESENTATION: The African baby residing in Tanzania was referred from a district hospital on the second day of life. She was noted to have a huge omphalocele and ectopia cordis covered by a thin membrane, with bowels visible through the membrane and the cardiac impulse visible just below the epigastrium. Despite the physical anomaly, she appeared to saturate well in room air and had stable vitals. Her chest X-ray revealed the absence of the lower segments of the sternum and echocardiography showed multiple intra-cardiac defects. Based on these findings, the diagnosis of pentalogy of Cantrell was reached. On her fifth day of life, the neonate was noted to have signs of cardiac failure characterized by easy fatigability and restlessness during feeding. Cardiac failure treatment was initiated and she was discharged on parents' request on the second week of life. Due to inadequate facilities to undertake this complex corrective surgery, arrangements were being made to refer her abroad. In the meantime, her growth and development was satisfactory until the age of 9 months, when she ran out of the medications and succumbed to death. Her parents could no longer afford transport cost to attend the monthly clinic visits, where the infant was getting free medication refill. CONCLUSIONS: The case reported here highlights that in resource limited settings; poor outcome in infants with complex congenital anomalies is a function of multiple factors. However, we believe that surgery would have averted mortality in this 9-month-old female infant. We hope to be able to manage these cases better in future following the recent establishment of cardiac surgery facilities at Muhimbili National Hospital.


Assuntos
Ectopia Cordis/patologia , Hérnia Umbilical/patologia , Pentalogia de Cantrell/patologia , Parede Abdominal/anormalidades , Parede Abdominal/fisiopatologia , Ectopia Cordis/fisiopatologia , Evolução Fatal , Feminino , Hérnia Umbilical/fisiopatologia , Humanos , Lactente , Pentalogia de Cantrell/fisiopatologia , Esterno/anormalidades , Esterno/fisiopatologia , Tanzânia
18.
Ceska Gynekol ; 80(3): 214-7, 2015 Jun.
Artigo em Tcheco | MEDLINE | ID: mdl-26087217

RESUMO

OBJECT: Case report of ectopia cordis in a fetus at 23 weeks gestation. DESIGN: Case repor. SETTING: Obstetrics and Gynecology Clinic, University of Ostrava and University Hospital in Ostrava. METHODS AND RESULTS: We report a case of pentalogy of Cantrell variant in a 23-week fetus with an ultrasound finding of ectopia cordis, associated intracardial defects and omphalocele containing liver and guts. The patient opted for termination of pregnancy by using prostaglandins. Autopsy of the fetus revealed a cleft sternum and thoracic wall defect with nude ectopic heart-thoracic type and omphalocele containing liver and guts. Detailed examination of the heart revealed a double outlet right ventricle with a complete atrioventricular septal defect. Our study describes typical ultrasound findings in a correlation with autopsy findings. CONCLUSION: Ectopia cordis is a rare congenital malformation with an estimated incidence of 1:100 000 live births in developed countries. It is characterized by abnormal heart placement outside the thorax, mostly on the thoracoabdominal side. This form is often associated with pentalogy of Cantrell.


Assuntos
Ectopia Cordis/diagnóstico por imagem , Hérnia Umbilical/diagnóstico por imagem , Adulto , Diagnóstico Diferencial , Feminino , Idade Gestacional , Cardiopatias Congênitas/diagnóstico por imagem , Humanos , Gravidez , Ultrassonografia Pré-Natal
20.
Dev Biol ; 401(2): 264-75, 2015 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-25727890

RESUMO

Midline defects account for approximately 5% of congenital abnormalities observed at birth. However, the molecular mechanisms underlying the formation of the ventral body wall are not well understood. Recent studies linked mutations in Porcupine-an O-acetyl transferase mediating Wnt ligand acylation-with defects in the thoracic body wall. We hypothesized that anomalous Wnt signaling is involved in the pathogenesis of defective closure of the thoracic body wall. We generated a mouse model wherein Wntless (Wls), which encodes a cargo receptor mediating secretion of Wnt ligands, was conditionally deleted from the developing mesenchyme using Dermo1Cre mice. Wls(f/f);Dermo1(Cre/+) embryos died during mid-gestation. At E13.5, skeletal defects were observed in the forelimbs, jaw, and rib cage. At E14.5, midline defects in the thoracic body wall began to emerge: the sternum failed to fuse and the heart protruded through the body wall at the midline (ectopia cordis). To determine the molecular mechanism underlying the phenotype observed in Wls(f/f);Dermo1(Cre/+) embryos, we tested whether Wnt/ß-catenin signaling was operative in developing the embryonic ventral body wall using Axin2(LacZ) and BatGal reporter mice. While Wnt/ß-catenin signaling activity was observed at the midline of the ventral body wall before sternal fusion, this pattern of activity was altered and scattered throughout the body wall after mesenchymal deletion of Wls. Mesenchymal cell migration was disrupted in Wls(f/f);Dermo1(Cre/+) thoracic body wall partially due to anomalous ß-catenin independent Wnt signaling as determined by in vitro assays. Deletion of Lrp5 and Lrp6 receptors, which mediate Wnt/ß-catenin signaling in the mesenchyme, partially recapitulated the phenotype observed in the chest midline of Wls(f/f);Dermo1(Cre/+) embryos supporting a role for Wnt/ß-catenin signaling activity in the normal formation of the ventral body wall mesenchyme. We conclude that Wls-mediated secretion of Wnt ligands from the developing ventral body wall mesenchyme plays a critical role in fusion of the sternum and closure of the secondary body wall. Thus, impaired Wls activity in the ventral body wall mesenchyme is a mechanism underlying ectopia cordis and unfused sternum.


Assuntos
Peptídeos e Proteínas de Sinalização Intracelular/genética , Mesoderma/embriologia , Receptores Acoplados a Proteínas-G/genética , Esterno/embriologia , Cavidade Torácica/embriologia , Proteínas Wnt/genética , Aciltransferases , Animais , Proteína Axina/genética , Movimento Celular/genética , Proliferação de Células , Células Cultivadas , Ectopia Cordis/genética , Regulação da Expressão Gênica no Desenvolvimento , Proteína-5 Relacionada a Receptor de Lipoproteína de Baixa Densidade/genética , Proteína-6 Relacionada a Receptor de Lipoproteína de Baixa Densidade/genética , Proteínas de Membrana/genética , Mesoderma/metabolismo , Camundongos , Camundongos Knockout , Defeitos do Tubo Neural/genética , Via de Sinalização Wnt/genética , beta Catenina/genética
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