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Heart (British Cardiac Society) Oct 2023The eye is prone to various forms of afflictions, either as a manifestation of primary ocular disease or part of systemic disease, including the cardiovascular system. A... (Review)
Review
The eye is prone to various forms of afflictions, either as a manifestation of primary ocular disease or part of systemic disease, including the cardiovascular system. A thorough cardiovascular examination should include a brief ocular assessment. Hypertension and diabetes, for example, would present with retinopathy and dyslipidaemia would present with corneal arcus. Multisystem autoimmune diseases, such as Graves' disease, rheumatoid arthritis and sarcoidosis, would present with proptosis, episcleritis and scleritis, respectively. Myasthenia gravis, while primarily a neuromuscular disease, presents with fatigable ptosis and is associated with Takotsubo cardiomyopathy and giant cell myocarditis. Connective tissue diseases such as Marfan syndrome, which commonly presents with aortic root dilatation, would be associated with ectopia lentis and myopia. Wilson's disease, which is associated with arrhythmias and cardiomyopathies, would present usually with the characteristic Kayser-Fleischer rings. Rarer diseases, such as Fabry disease, would be accompanied by ocular signs such as cornea verticillata and such cardiac manifestations include cardiac hypertrophy as well as arrhythmias. This review examines the interplay between the eye and the cardiovascular system and emphasises the use of conventional and emerging tools to improve diagnosis, management and prognostication of patients.
Topics: Humans; Hepatolenticular Degeneration; Marfan Syndrome; Cardiovascular System; Heart; Copper
PubMed: 37507215
DOI: 10.1136/heartjnl-2022-322081 -
The Journal of Maternal-fetal &... Dec 2023This study aimed to analyze prenatal diagnosis, perinatal outcomes, and postnatal follow-up in fetuses with ectopia cordis (EC).
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.
Topics: Infant; Humans; Pregnancy; Female; Adolescent; Ectopia Cordis; Retrospective Studies; Follow-Up Studies; Ultrasonography, Prenatal; Prenatal Diagnosis; Heart Defects, Congenital; Heart Septal Defects, Ventricular
PubMed: 37080921
DOI: 10.1080/14767058.2023.2203791 -
Annals of Medicine and Surgery (2012) Jul 2023Ectopia cordis is a rare type of malformation where the heart is not located normally. It may be partially or completely located outside the thoracic cavity and can be...
UNLABELLED
Ectopia cordis is a rare type of malformation where the heart is not located normally. It may be partially or completely located outside the thoracic cavity and can be associated with other congenital abnormalities.
CASE PRESENTATION
This case report is of a 34-week- and 6-day-old female fetus with a birth weight of 2040 g, a height of 41 cm, and a head circumference of 32 cm. The initial physical examination revealed a responsive newborn with an externalized heart outside the chest, with pericardium protection. In addition, a thoracic wall defect was detected suggesting incomplete formation of the septum bone. Moreover, in this case, the echocardiography report showed a multiple ventricular septal defect.
CONCLUSION
The management of ectopia cordis is a challenge for any obstetrician and pediatric surgeon due to its rarity. It causes mental agony and anxiety to the parents. With an early diagnosis, termination of pregnancy can be one of the options. Once it is diagnosed late, it needs a multidisciplinary approach, and the services of a very experienced pediatric surgeon to improve the prognosis.
PubMed: 37427174
DOI: 10.1097/MS9.0000000000000329 -
International Journal of Surgery Case... Nov 2023The sternum, pericardium, diaphragm, abdominal wall, and heart are all affected by the unusual congenital condition known as Cantrell pentalogy. It is a rare congenital...
INTRODUCTION
The sternum, pericardium, diaphragm, abdominal wall, and heart are all affected by the unusual congenital condition known as Cantrell pentalogy. It is a rare congenital disorder that requires multidisciplinary care. Early diagnosis and appropriate management are crucial for improving outcomes in affected individuals. To illustrate the difficulties and complexity of Cantrell pentalogy, we provide two cases.
PRESENTATION OF CASE
In case 1, a routine antenatal scan at 12 weeks' gestation revealed thoracoabdominal ectopia cordis in a 29-year-old woman. The pregnancy was terminated medically due to the severity of the anomalies and the poor prognosis. A 32-year-old patient in case 2 had a diaphragmatic hernia, thoracoabdominal ectopia cordis and midline abdominal wall abnormalities. After counselling, a medical termination was chosen. The ultra-sonographic features were confirmed by autopsy results in 2 cases.
DISCUSSION
Early diagnosis is feasible in the first trimester if ectopia cordis and omphalocele exist. Additionally, development in ultrasound technology provides us with better visualization and early diagnosis. With patients who have fully developed Cantrell syndrome and those who also have accompanying anomalies, the prognosis is often poor, with short survival and quality of life.
CONCLUSIONS
Cantrell pentalogy is a rather uncommon congenital condition. Early detection is possible in the first trimester. The severity of the illness varies greatly, and treatment is determined by the precise abnormalities present. Early diagnosis necessitates adequate initial training as well as ongoing in-service training for sonographers. Early detection and treatment are critical for improving outcomes in affected persons.
PubMed: 37879290
DOI: 10.1016/j.ijscr.2023.108941 -
Animals : An Open Access Journal From... Jun 2023Developmental anomalies are an important cause of stillbirth and early perinatal death in companion animals. Many of these disorders remain poorly understood and provide...
Developmental anomalies are an important cause of stillbirth and early perinatal death in companion animals. Many of these disorders remain poorly understood and provide an opportunity as a spontaneous animal model for human disease. Pentalogy of Cantrell is a rare congenital syndrome described in human neonates. It is a ventral midline closure defect with a proposed familial inheritance in humans. This syndrome involves five defects, including the thoracoabdominal wall, sternal, diaphragmatic, pericardial and cardiac malformations. Diverse expressions of these defects have been described in humans and sporadically in domestic animals. This severe syndrome commonly harbors a poor prognosis, posing an ethical and surgical dilemma. To better understand this syndrome and its presentation in dogs, we describe two rare cases of Pentalogy of Cantrell in a litter of papillon dogs. The affected puppies had anomalies compatible with the Pentalogy of Cantrell, including thoracoabdominal schisis, ectopia cordis, sternal cleft, pericardial agenesis, and diaphragmatic defects. The diagnosis was confirmed by advanced imaging (computed tomography) and postmortem examinations. The family history of this litter was explored and other cases in domestic animals were reviewed. This is the first report of the complete Pentalogy of Cantrell with ectopia cordis in the dog and the only report on papillons. Similar to human cases, possible familial inheritance and suspected male gender bias were observed. Further research on this novel animal model, its pathogenesis and its hereditary basis, may be helpful in better understanding this rare developmental disorder.
PubMed: 37443889
DOI: 10.3390/ani13132091 -
Clinical Case Reports Jan 2024Ectopia cordis is a rare condition with expected low survival rate based on past studies. We encountered a case of a preterm and low birth weight infant with ectopia...
Ectopia cordis is a rare condition with expected low survival rate based on past studies. We encountered a case of a preterm and low birth weight infant with ectopia cordis. When the infant cried, the prolapse of the heart, liver, and intestinal tract worsened. A pressure-applying protector was used to protect the organs and reduce the prolapse. Upon application, the infant's tachypnea and desaturation worsened. Fluoroscopic examination suggested that the pressure from the prolapsed regions was impeding pulmonary expansion and negatively affecting circulation. It is essential to carefully design a protector that accommodates the infant's growth.
PubMed: 38173890
DOI: 10.1002/ccr3.8403 -
Diagnostics (Basel, Switzerland) May 2024We present a case of a neonate born with prenatal diagnosis of Cantrell syndrome and ectopia cordis. This extremely rare congenital disorder underscores the significant...
We present a case of a neonate born with prenatal diagnosis of Cantrell syndrome and ectopia cordis. This extremely rare congenital disorder underscores the significant need for multimodality imaging to plan further management. The aim of the study was to present the thoracoabdominal syndrome using a three-dimensional computed tomography angiography. The CT scans confirmed complex intracardiac defects consisting of tetralogy of Fallot, total anomalous pulmonary venous return and persistent left superior vena cava. In conclusion, Cantrell syndrome necessitates a multidisciplinary approach, from the onset of the prenatal diagnosis followed by prompt medical imaging and surgical interventions after birth. The thoracoabdominal wall defect including complete ectopia cordis is an extremely rare disorder with a fatal outcome.
PubMed: 38786301
DOI: 10.3390/diagnostics14101003