ABSTRACT
Ectopia cordis is a congenital heart malformation of the sternal wall, with a prevalence of 0.1% among heart conditions and an incidence of 5.5 to 7.9 per million births. It is characterized by the heart being located outside the thoracic cavity, and it may be accompanied by other congenital anomalies such as omphalocele, Cantrell´s pentalogy, or Fallot´s tetralogy. We present a case of thoracic ectopia cordis in a male neonate. After birth, we also observed a midline thoracic malformation and respiratory difficulties with clinical and paraclinical features consistent with tetralogy of Fallot. It was decided to provide skin flap coverage, and due to the poor prognosis of the heart condition, palliative care was chosen. Unfortunately, the neonate passed away after seven days. This clinical case study contributes to understanding this rare condition and may help improve diagnosis and treatment of affected patients.
La ectopia cordis es una malformación cardíaca congénita de la pared esternal, con una prevalencia del 0,1%, e incidencia del 5,5 al 7,9 por millón de nacimientos. Se caracteriza por situar al corazón fuera de la cavidad torácica, puede acompañarse de otras anomalías congénitas como onfalocele, pentalogía de Cantrell o tetralogía de Fallot. Presentamos un caso de ectopia cordis torácica en un recién nacido de sexo masculino. Después del nacimiento, también observamos una malformación de la línea media torácica y dificultad respiratoria con características clínicas y paraclínicas compatibles con tetralogía de Fallot. Se realizó una cobertura con colgajo cutáneo, y debido al mal pronóstico, se optó por cuidados paliativos; con fallecimiento después de siete días. Este estudio de caso clínico contribuye a la comprensión de esta rara enfermedad, y puede ayudar a mejorar el diagnóstico y tratamiento de los pacientes afectados.
Subject(s)
Ectopia Cordis , Humans , Ectopia Cordis/diagnosis , Ectopia Cordis/surgery , Male , Infant, Newborn , Fatal Outcome , Tetralogy of Fallot/surgery , Tetralogy of Fallot/diagnosis , Palliative Care , Surgical Flaps , PrognosisABSTRACT
Ectopia cordis is an extremely rare condition where the heart displaces outside the thoracic cavity. Treating this, especially when accompanied by congenital heart diseases and severe protrusion, is challenging. Here, we present a case of successful treatment involving intracardiac repair and delayed sternal closure using local skin flaps.
Subject(s)
Ectopia Cordis , Surgical Flaps , Humans , Ectopia Cordis/surgery , Female , Male , Prolapse , Cardiac Surgical Procedures/methodsSubject(s)
Ectopia Cordis , Humans , Infant, Newborn , Ectopia Cordis/diagnostic imaging , Male , FemaleABSTRACT
La pentalogía de Cantrell es una rara anomalía congénita caracterizada por la asociación de ectopia cordis con defectos en la pared toracoabdominal, el diafragma, el esternón y pericárdicos, y anomalías cardíacas intrínsecas. En diagnóstico prenatal, la ecografía se utiliza sistemáticamente entre las 11 y 14 semanas de gestación, evaluando marcadores de alteraciones cromosómicas como la sonolucencia nucal, el hueso nasal y la morfología patológica del ductus venoso, entre otros. Además, permite examinar la anatomía fetal y diagnosticar anomalías mayores, como acrania-anencefalia, holoprosencefalia, defectos de la pared abdominal y toracoabdominal, entre los que se incluye la pentalogía de Cantrell. Se reporta un feto con los hallazgos clásicos de pentalogía de Cantrell, que fue expulsado a las 13 semanas de gestación bajo protocolo de interrupción voluntaria del embarazo. Madre de 23 años, G1P0, sin exposiciones teratogénicas, en cuyo feto se encontró ectopia cordis, asas intestinales e hígado por fuera de la cavidad abdominal en las 10 y 12 semanas de gestación. El objetivo de este estudio es aportar a la literatura un reporte de pentalogía de Cantrell, siendo el primero reportado en Colombia en el primer trimestre de gestación, mostrando la importancia de la ecografía sistemática durante este periodo, en el marco de la posibilidad de interrupción voluntaria del embarazo.
Cantrells pentalogy is a rare congenital anomaly characterized by the association of ectopia cordis with intrinsic cardiac anomalies and various anatomical defects found in the thoracoabdominal wall, diaphragm, sternum and pericardium. Ultrasound is used routinely between 11 and 14 weeks of gestation during prenatal diagnosis. It evaluates markers of chromosomal alterations such as nuchal sonolucency, the nasal bone, and the pathological morphology of the ductus venosus, among others. Furthermore, it allows the diagnosis of altered fetal anatomy and major abnormalities such as acrania-anencephaly, holoprosencephaly, abdominal and thoraco-abdominal wall defects including Cantrells pentalogy. In this case report, we present a fetus with the classic findings of Cantrells pentalogy, which was expelled during the 13th week of gestation under the protocol of voluntary interruption of pregnancy. The mother, a 23-year-old woman, G1P0, without teratogenic exposures, in whom during the routine ultrasound of the 10th and 12th weeks of gestation ectopia cordis, intestinal loops and liver outside the abdominal cavity were found on the fetus. The main objective of this study is to contribute to the literature a case report of pentalogy of Cantrell, diagnosed through prenatal ultrasound, being the first reported in Colombia during first trimester of gestation, showing the importance of routine ultrasound, in the context of access to a voluntary termination of pregnancy.
Subject(s)
Humans , Female , Pregnancy , Young Adult , Pentalogy of Cantrell/diagnostic imaging , Pregnancy Trimester, First , Ultrasonography, Prenatal , Abortion, Induced , Ectopia Cordis/etiology , Pentalogy of Cantrell/surgery , Pentalogy of Cantrell/complicationsABSTRACT
OBJECTIVE: This study aimed to analyze prenatal diagnosis, perinatal outcomes, and postnatal follow-up in fetuses with ectopia cordis (EC). METHODS: This retrospective analysis accessed 31 patients with EC who were either diagnosed or referred to a tertiary Fetal Medicine centers for EC diagnosis in Brazil, Germany, Italy, and Poland. We analyzed prenatal diagnosis, perinatal outcomes, and follow-up in these patients. RESULTS: Our study included a cohort of 31 fetuses with EC, 4 and 27 of whom had partial and complete protrusion of the heart through a ventral defect in the thoracoabdominal wall, respectively. EC was diagnosed by fetal echocardiography at a mean gestational age of 20.3 ± 8.6 weeks (range, 8-35 weeks). Of the four cases, in which the karyotype was performed, all of them had a normal result (1 - 46,XX and 3 - 46,XY). Five patients showed conotruncal abnormalities and six ventricular septal defects. Termination of pregnancy (TOP) was performed in 15 cases (48%) and seven pregnant women had spontaneous fetal demise (22.5%). Of the seven fetuses that were born alive, four of them died, and three infants underwent surgery. Among these three infants, all of them survived, one was 5 months, 13 years old and 29 years old at the time of study completion. CONCLUSIONS: Ectopia cordis is associated with high mortality rates and intracardiac/extra-cardiac defects. Ventricular septal defects and conotruncal anomalies were the more common intracardiac defects associated with EC. However, in this cohort of fetuses with EC the incidence of PC was lower than reported in the literature.
Subject(s)
Ectopia Cordis , Heart Defects, Congenital , Heart Septal Defects, Ventricular , Infant , Humans , Pregnancy , Female , Adolescent , Ectopia Cordis/diagnostic imaging , Retrospective Studies , Follow-Up Studies , Ultrasonography, Prenatal , Prenatal Diagnosis , Heart Defects, Congenital/diagnosisABSTRACT
Herein we present a case of a neonate with congenital left ventricular diverticulum (LVD), a rare anomaly, with an unusual course and unexpected findings. The neonate was born at 35 weeks in Namazi Hospital (Shiraz, Iran) and presented with a pulsatile umbilical mass immediately after birth. Based on multiple imaging modalities, the presence of a connection between the left ventricular apex and the umbilicus was confirmed. Percutaneous closure of LVD was unsuccessful. The patient's clinical course deteriorated after developing sepsis and multiorgan failure. The patient passed away before any corrective surgery could be performed. Unexpected findings in post-mortem evaluation were severe hepatic macrovesicular steatosis (suggestive of metabolic liver disease) and regulatory factor X6 (RFX6) heterozygous missense mutation in whole-exome sequencing.
Subject(s)
Diverticulum , Ectopia Cordis , Heart Defects, Congenital , Pentalogy of Cantrell , Infant, Newborn , Humans , Ectopia Cordis/surgery , Pentalogy of Cantrell/surgery , Heart Ventricles , Mutation , Diverticulum/surgeryABSTRACT
We aim to evaluate the clinical course and outcome of cases with a prenatal diagnosis of ectopia cordis in our center. In this retrospective study, we analyzed clinical variables including gestational age at diagnosis, maternal age, associated cardiac, extracardiac, genetic anomalies and, outcome in prenatally diagnosed ectopia cordis cases in our tertiary referral center. Eight ectopia cordis cases from seven pregnancies were included in the study. All fetuses had complete type of ectopia cordis and pentalogy of Cantrell. Five multiple pregnancies were found, four were twin pregnancies (three dichorionic diamniotic, one monochorionic monoamniotic) and one was triplet (trichorionic triamniotic). In the monochorionic monoamniotic twin pregnancy, both fetuses have pentalogy of Cantrell. Two cases had intracardiac structural defects including Tetralogy of Fallot and hypoplastic right heart syndrome. Three pregnancies were terminated, four cases delivered alive could not survive beyond the neonatal period. The striking feature in our study is its association with multiple pregnancies.
Subject(s)
Ectopia Cordis , Fetal Diseases , Humans , Female , Pregnancy , Fetal Diseases/diagnostic imaging , Fetal Diseases/pathology , Ectopia Cordis/diagnostic imaging , Ectopia Cordis/pathology , Gestational Age , Prenatal Diagnosis , Adult , Retrospective Studies , Pregnancy Outcome , Infant, Newborn , Pentalogy of Cantrell/diagnostic imaging , Pentalogy of Cantrell/pathologyABSTRACT
Ectopia cordis is a rare congenital defect with high mortality, and it remains challenging to radiologists, neonatologists and surgeons. CT angiography provides key information that aids in the decision-making process for possible surgical intervention. This pictorial essay describes CT angiography features in six neonates with ectopia cordis.
Subject(s)
Ectopia Cordis , Heart Defects, Congenital , Infant, Newborn , Humans , Child , Ectopia Cordis/diagnostic imaging , Ectopia Cordis/surgery , Computed Tomography Angiography , Angiography , Tomography, X-Ray Computed , Heart Defects, Congenital/surgeryABSTRACT
OBJECTIVE: The purpose of this retrospective study was to report our cases of fetal ectopia cordis (EC) and to evaluate the utility of fetal cardiovascular magnetic resonance imaging (MRI) for the diagnosis of this rare anomaly. METHOD: This retrospective study included 11 fetuses with EC. The multiplane steady-state free precession (SSFP) sequence, single-shot turbo spin-echo sequence and non-gated SSFP cine cardiovascular magnetic resonance were used to evaluate the fetal heart and abdomen. RESULTS: The 11 fetal cases with EC were examined by fetal cardiovascular MRI and confirmed by postnatal or post-mortem findings. Of these 11 cases, two were isolated thoracic EC, six had pentalogy of Cantrell, and three had an omphalocele and EC. Among all 11 fetuses, nine were associated with congenital heart defects. In four cases, fetal MRI added additional information compared to fetal ultrasound, however, in two cases, fetal MRI missed the diagnosis of a ventricular septal defect noted by echocardiography. CONCLUSION: Fetal MRI combined with prenatal echocardiography can improve the accuracy of the prenatal diagnosis of EC.
Subject(s)
Ectopia Cordis , Heart Defects, Congenital , Pregnancy , Female , Humans , Ectopia Cordis/diagnostic imaging , Retrospective Studies , Prenatal Diagnosis/methods , Fetal Heart/diagnostic imaging , Ultrasonography, Prenatal/methods , Heart Defects, Congenital/diagnostic imaging , Magnetic Resonance Imaging/methodsABSTRACT
Ectopia cordis is a rare congenital defect with the prevalence of 5 to 8 per million live births. Here we report a rare case of preterm female live birth with ectopia cordis associated with omphalocele, cleft lip, and palate. In this case, 14+ weeks ultrasound did not show any fetal abnormalities and parents were unaware of the condition until 35+ weeks when ultrasound detected the anomaly a few days before delivery. After delivery, they didn't give consent for further intervention which led to neonatal mortality 3 hours after birth. If the condition was diagnosed in time, an earlier intervention could have been done.
Subject(s)
Cleft Lip , Cleft Palate , Ectopia Cordis , Hernia, Umbilical , Cleft Lip/complications , Cleft Lip/diagnostic imaging , Cleft Palate/complications , Cleft Palate/diagnostic imaging , Ectopia Cordis/diagnostic imaging , Ectopia Cordis/surgery , Female , Hernia, Umbilical/diagnosis , Hernia, Umbilical/diagnostic imaging , Humans , Infant , Infant, Newborn , Palate , Pregnancy , Ultrasonography, PrenatalABSTRACT
Ectopia cordis (EC) is a rare malformation that occurs as an isolated lesion or as part of the pentalogy of Cantrell which is characterized by midline closure defects. This was first described by Haller et al. in 1706. EC is seen with a frequency of 5.5-7.9 per 1 million births. It has five types that are: cervical, cervico-thoracic, thoracic, thoraco-abdominal, and abdominal. Its differentiation from the pentalogy of Cantrell, first described by Cantrell in 1958, must be done well. Thoracic type has the worst prognosis and due to this poor prognosis in the postnatal period, termination may be offered to these patients as an option. In this paper, a case of an isolated thoracic-type complete EC detected in the prenatal ultrasonography of a pregnant woman referred to our clinic at the 18 weeks and 3 days of gestation is presented.
Subject(s)
Ectopia Cordis , Pentalogy of Cantrell , Ectopia Cordis/diagnostic imaging , Ectopia Cordis/surgery , Female , Humans , Pentalogy of Cantrell/diagnostic imaging , Pentalogy of Cantrell/surgery , Pregnancy , Prenatal Diagnosis , Ultrasonography, PrenatalABSTRACT
A neonate with thoracic ectopia cordis presented following an uncomplicated delivery. A mandibular distractor was placed to bridge the sternal cleft and retracted (reverse distractor activation) over 24 days to facilitate sternal closure. Follow-up at five years postoperatively demonstrated a well-healed sternum. This novel approach to ectopia cordis repair facilitates slow, steady physiologic accommodation of the heart without hemodynamic instability or long-term complications.
Subject(s)
Ectopia Cordis , Heart Defects, Congenital , Musculoskeletal Abnormalities , Ectopia Cordis/diagnostic imaging , Ectopia Cordis/surgery , Follow-Up Studies , Heart Defects, Congenital/diagnostic imaging , Heart Defects, Congenital/surgery , Humans , Infant, Newborn , Sternum/abnormalities , Sternum/diagnostic imaging , Sternum/surgeryABSTRACT
We present the first trimester prenatal ultrasonography and pathological assessment of a case diagnosed with limb-body wall complex (LBWC) presenting both exenchephaly and a complex thoraco-abdominal wall defect. Ectopia cordis is demonstrated with a movie showing the heart beating outside the body of the fetus after its expulsion. Also, we discuss the pathogenesis and possible etiology of LBWC and associated malformations and we provide an update of the literature of this very rare anomaly.
Subject(s)
Abnormalities, Multiple , Ectopia Cordis , Limb Deformities, Congenital , Abnormalities, Multiple/diagnostic imaging , Ectopia Cordis/complications , Ectopia Cordis/diagnostic imaging , Ectopia Cordis/pathology , Female , Humans , Limb Deformities, Congenital/etiology , Pregnancy , Pregnancy Trimester, First , Ultrasonography, PrenatalABSTRACT
Sternal agenesis as well as ectopia cordis are extremely rare congenital malformations. We here report a single case treated in the Department of Paediatric Surgery in Benin. The study involved a 3-year-old girl with congenital sternal agenesis associated with ectopia cordis; firstly, she underwent controlled healing. Then thoracoplasty was performed with favourable outcome. Long-term results are good. Now, she is 13 years old, is attending school and has a satisfactory clinical condition. This is one of the few cases reported in the literature. Optimal therapeutic management has been keeping the patient alive in West Africa.
Subject(s)
Ectopia Cordis/surgery , Sternum/surgery , Benin , Child, Preschool , Female , Follow-Up Studies , Humans , Sternum/abnormalities , Treatment OutcomeSubject(s)
Ectopia Cordis , Ectopia Cordis/diagnosis , Fatal Outcome , Humans , Infant, Newborn , MaleABSTRACT
BACKGROUND: Ectopia cordis is a complete or partial extrusion of the heart through a ventral defect in the thoracoabdominal wall, either isolated or accompanied by other viscera in instances of pentalogy of Cantrell. Case Report: This six-year-old child has survived with uncorrected ectopia cordis. He is unable to participate in strenuous physical activities and has respiratory limitations. Conclusion: Ectopia cordis most commonly results in stillbirth or neonatal death without surgical treatment. This report highlights the exceptional 6-year survival of a child without surgical correction.
Subject(s)
Ectopia Cordis , Heart Defects, Congenital , Child , Ectopia Cordis/surgery , Humans , MaleABSTRACT
Body stalk anomaly is a rare abnormality characterized by an abdominal wall defect with evisceration of abdominal organs, severe kyphoscoliosis, and a very short or absent umbilical cord. Ectopia cordis (EC) is a rare, lethal anomaly characterized by complete or partial malpositioning of the heart outside of the thorax. A 28-year-old healthy primigravida was referred to our department to undergo a nuchal translucency thickness scan at 12 weeks' gestation. The scan revealed typical features of body stalk anomaly and EC. Given the lethal condition of the fetus, the patient opted for termination of the pregnancy. Body stalk anomalies, especially those complicated by EC, are universally lethal for the affected fetus. Selective termination should be recommended to avoid possible complications that can arise during pregnancy. Additionally, the future parents should be informed that because the condition is not associated with chromosomal abnormalities, there is no increased risk of recurrence.
Subject(s)
Ectopia Cordis , Adult , Ectopia Cordis/diagnostic imaging , Ectopia Cordis/surgery , Female , Gestational Age , Humans , Pregnancy , Pregnancy Trimester, First , Prenatal Diagnosis , Ultrasonography, PrenatalABSTRACT
We present a 31 gestational weeks' premature baby whose fetal echocardiogram showed ectopia cordis, single ventricle and severe pulmonary stenosis. At 31 gestational weeks, an emergency caesarean section was performed, and his birth weight was 1756 g, SpO2 was 80% on 100% O2. Epicardial echocardiogram showed double inlet right ventricle, severe valvular pulmonary stenosis and no ductus arteriosus. The risk of surgery was very high, so we decided to perform balloon valvuloplasty by direct puncture of the heart. We punctured the apex of the ventricle using a 16-gauge needle under echo guidance, advanced the guidewire to the pulmonary artery and performed balloon valvuloplasty. Soon after the procedure, the cyanosis improved dramatically. This is the first report of a transcatheter procedure performed by direct puncture of the heart for ectopia cordis with complex congenital heart disease.