Tracheal quadrifurcation associated with congenital heart disease

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Bhat, Venkatraman; Gadabanahalli, Karthik; Ahmad, Ozaire [Narayana Multispeciality Hospital and Mazumdar Shaw Cancer Center, Department of Radiology, Bangalore (India)

2015-08-15

Tracheal anomalies are known in association with congenital cardiac defects. Some of the well-described anomalies include accessory (displaced) tracheal bronchus with variants, tracheal trifurcation and accessory cardiac bronchus. Here we describe a case of tracheal quadrifurcation associated with complex congenital heart disease. Illustration of complex airway anatomy was simplified by the use of multidetector CT using a variety of image display options. Awareness of this complex anomaly will expand our knowledge of tracheal anomalies and equip the anesthesia and surgical team for better airway management. (orig.)

Potential implications of the helical heart in congenital heart defects.

Science.gov (United States)

Corno, Antonio F; Kocica, Mladen J

2007-01-01

The anatomic and functional observations made by Francisco Torrent-Guasp, in particular his discovery of the helical ventricular myocardial band (HVMB), have challenged what has been taught to cardiologists and cardiac surgeons over centuries. A literature debate is ongoing, with interdependent articles and comments from supporters and critics. Adequate understanding of heart structure and function is obviously indispensable for the decision-making process in congenital heart defects. The HVMB described by Torrent-Guasp and the potential impact on the understanding and treatment of congenital heart defects has been analyzed in the following settings: embryology, ventriculo-arterial discordance (transposition of great arteries), Ebstein's anomaly, pulmonary valve regurgitation after repair of tetralogy of Fallot, Ross operation, and other congenital heart defects. The common structural spiral feature is only one of the elements responsible for the functional interaction of right and left ventricles, and understanding the form/function relationship in congenital heart defects is more difficult than for acquired heart disease because of the variety and complexity of congenital heart defects. Individuals involved in the care of patients with congenital heart defects have to be stimulated to consider further investigations and alternative surgical strategies.

Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.

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Wang, Yan; Cao, Li; Liang, Dong; Meng, Lulu; Wu, Yun; Qiao, Fengchang; Ji, Xiuqing; Luo, Chunyu; Zhang, Jingjing; Xu, Tianhui; Yu, Bin; Wang, Leilei; Wang, Ting; Pan, Qiong; Ma, Dingyuan; Hu, Ping; Xu, Zhengfeng

2018-02-01

Currently, chromosomal microarray analysis is considered the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of chromosomal microarray analysis for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. In this prospective study, 602 prenatal cases of congenital heart disease were investigated using single nucleotide polymorphism array over a 5-year period. Overall, pathogenic chromosomal abnormalities were identified in 125 (20.8%) of 602 prenatal cases of congenital heart disease, with 52.0% of them being numerical chromosomal abnormalities. The detection rates of likely pathogenic copy number variations and variants of uncertain significance were 1.3% and 6.0%, respectively. The detection rate of pathogenic chromosomal abnormalities in congenital heart disease plus additional structural anomalies (48.9% vs 14.3%, P congenital heart disease group. Additionally, the detection rate in congenital heart disease with additional structural anomalies group was significantly higher than that in congenital heart disease with soft markers group (48.9% vs 19.8%, P congenital heart disease with additional structural anomalies and congenital heart disease with intrauterine growth retardation groups (48.9% vs 50.0%), congenital heart disease with soft markers and congenital heart disease with intrauterine growth retardation groups (19.8% vs 50.0%), or congenital heart disease with soft markers and isolated congenital heart disease groups (19.8% vs 14.3%). The detection rate in fetuses with congenital heart disease plus mild ventriculomegaly was significantly higher than in those with other types of soft markers (50.0% vs 15.6%, P congenital heart disease in clinical practice. Copyright © 2017 Elsevier Inc. All rights reserved.

[Genetics of congenital heart diseases].

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Bonnet, Damien

2017-06-01

Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

Epidemiological study of congenital heart defects in children and adolescents: analysis of 4,538 cases

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Nelson Itiro Miyague

2003-03-01

Full Text Available OBJECTIVE: To analyze the frequency and prevalence of congenital heart defects in a tertiary care center for children with heart diseases. METHODS: We carried out an epidemiological assessment of the first medical visit of 4,538 children in a pediatric hospital from January 1995 to December 1997. All patients with congenital heart defects had their diagnoses confirmed at least on echocardiography. The frequency and prevalence of the anomalies were computed according to the classification of sequential analysis. Age, weight, and sex were compared between the groups of healthy individuals and those with congenital heart defects after distribution according to the age group. RESULTS: Of all the children assessed, 2,017 (44.4% were diagnosed with congenital heart disease, 201 (4.4% with acquired heart disease, 52 (1.2% with arrhythmias, and 2,268 (50% were healthy children. Congenital heart diseases predominated in neonates and infants, corresponding to 71.5% of the cases. Weight and age were significantly lower in children with congenital heart defects. Ventricular septal defect was the most frequent acyanotic anomaly, and tetralogy of Fallot was the most frequent cyanotic anomaly. CONCLUSION: Children with congenital heart defects are mainly referred during the neonatal period and infancy with impairment in gaining weight. Ventricular septal defect is the most frequent heart defect.

Trends in congenital anomalies in Europe from 1980 to 2012

DEFF Research Database (Denmark)

Morris, Joan K.; Springett, Anna L.; Greenlees, Ruth

2018-01-01

and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid...... of pregnancy for fetal anomaly were analysed with multilevel random- effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003-2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects...

Congenital heart disease screening: which referral factors are most important

International Nuclear Information System (INIS)

Fayyaz, A.; Ahmed, W.

2013-01-01

To identify the referral factors for fetal echocardiography which are associated with congenital cardiac defects in the fetus. Study Design: Cross-sectional descriptive study. Place and Duration of Study: Radiology Department, CMH, Rawalpindi, from January 2007 to November 2010. Methodology: All patients referred for fetal echocardiography with one or more risk factors for the development of congenital heart disease, and those patients with incidental discovery of congenital heart disease on antenatal ultrasound were evaluated. Patients with no risk factors who were found to have normal fetal echocardiography were excluded from the study. Univariate logistic regression analysis was carried out for each variable. The variables with statistical significance of less than 0.05 were subjected to multivariate logistic regression. Fetal echocardiographic diagnosis was taken as the dependent variable and all other variables were the independent variables. Results: Two hundred and sixty four patients were evaluated by fetal echocardiography for congenital heart disease. The statistically significant factor was detection of congenital heart disease on routine ultrasound examination. Conclusion: A routine obstetric scan should include evaluation of the heart with four-chamber and base-of-heart views to exclude cardiac anomalies. A cardiac anomaly picked up on routine ultrasound scan is the most important indication for referral for fetal echocardiography. Fetal arrhythmias and echogenic focus in the left ventricle do not have a significant association with structural cardiac malformation. (author)

Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

International Nuclear Information System (INIS)

Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I.; Mehta, Nimisha

2017-01-01

Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

Prenatal congenital vertical talus (rocker bottom foot). A marker for multisystem anomalies

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Rubio, Eva I.; Blask, Anna R.; Bulas, Dorothy I. [Children' s National Health System, Division of Diagnostic Imaging and Radiology, Washington, DC (United States); Mehta, Nimisha [George Washington University School of Medicine, Washington, DC (United States)

2017-12-15

Congenital vertical talus is a rare foot anomaly characterized by a prominent calcaneus and rigid forefoot dorsiflexion. While congenital vertical talus has been associated with anomalies such as trisomy 18, myelomeningocele and arthrogryposis, postnatal series have reported cases of isolated congenital vertical talus. The purpose of our study was to determine the incidence of isolated congenital vertical talus prenatally and identify the most common anomalies associated with this finding. A retrospective review was performed of congenital vertical talus cases identified in our fetal center from 2006 to 2015. The prenatal US and MR imaging appearance of congenital vertical talus was evaluated and differentiation from congenital talipes equinovarus was assessed. Studies were evaluated for additional abnormalities affecting the central nervous system, face, limbs, viscera, growth and amniotic fluid. Imaging findings were recorded and correlated with outcomes when available. Twenty-four cases of congenital vertical talus were identified prenatally (gestational age: 19-36 weeks). All 24 had prenatal US and 21 also underwent fetal MRI on the same day. There were no isolated cases of congenital vertical talus in this series; all 24 had additional anomalies identified prenatally. Sixteen cases had bilateral congenital vertical talus (67%). Additional anomalies were identified in the brain (15), spine (11), face (6), abdominal wall (3), heart (8) and other limbs (12). Chromosomal abnormalities were identified in 6 of 20 patients who underwent genetic testing. Overall, US held some advantage in detecting the abnormality: in 10 cases, US depicted congenital vertical talus more clearly than MRI; in 8 cases, US and MRI were equal in detection and in 3 cases, MRI was superior. In 9/15 cases with intracranial abnormalities, MRI was superior to US in demonstrating structural anomalies. Outcomes included termination (11), intrauterine fetal demise (1), stillbirth or immediate

Cyanotic Congenital Heart Defects – literature review

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Vlad Drăgoi

2017-11-01

Full Text Available Congenital heart defects are one of the most interesting and important chapters regarding abnormal fetal growth pathology. The objective of this article is to present a literature review for the main cyanotic congenital heart defects. The ones presented in the article are: tetralogy of Fallot, transposition of the great vessels, double outlet right ventricle, truncus arteriosus, total anomalous pulmonary venous circulation and additional information regarding very rare malformations such as pentalogy of Cantrell and Uhl anomaly. An early and precise identification of congenital heart defects is an important step in an accurate follow-up of a potential problematic pregnancy. Knowing the sonographic aspect, associated pathology and the current available treatment procedures are vital for the fetal outcome and for the physician to adapt the right management in every situation that might appear during the pregnancy and in the neonatal period.

Congenital Heart Diseases in Adults: A Review of Echocardiogram ...

African Journals Online (AJOL)

The most common congenital anomalies were ventricular septal defects (VSD) ‑ 31.3%, (36/115), atrial septal defects ‑ 28.7% (33/115) and tetralogy of fallot ‑ 10.4% (12/115). Conclusion: VSD are the most common congenital heart diseases in adults presenting for echocardiographic examination in Enugu, Nigeria.

The prevalence of congenital anomalies in Europe

DEFF Research Database (Denmark)

Dolk, Helen; Loane, Maria; Garne, Ester

2010-01-01

EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomali...

Radiologic analysis of congenital limb anomalies

International Nuclear Information System (INIS)

Chung, Hong Jun; Kim, Ok Hwa; Shinn, Kyung Sub; Kim, Nam Ae

1994-01-01

Congenital limb anomalies are manifested in various degree of severity and complexity bearing conclusion for description and nomenclature of each anomaly. We retrospectively analyzed the roentgenograms of congenital limb anomalies for the purpose of further understanding of the radiologic manifestations based on the embryonal defect and also to find the incidence of each anomaly. Total number of the patients was 89 with 137 anomalies. Recently the uniform system of classification for congenital anomalies of the upper limb was adopted by International Federation of Societies for Surgery of the Hand (IFSSH), which were categorized as 7 classifications. We used the IFSSH classification with some modification as 5 classifications; failure of formation of parts, failure of differentiation of parts, duplications, overgrowth and undergrowth. The patients with upper limb anomalies were 65 out of 89(73%), lower limb were 21(24%), and both upper and lower limb anomalies were 3(4%). Failure of formation was seen in 18%, failure of differentiation 39%, duplications 39%, overgrowth 8%, and undergrowth in 12%. Thirty-five patients had more than one anomaly, and 14 patients had intergroup anomalies. The upper limb anomalies were more common than lower limb. Among the anomalies, failure of differentiation and duplications were the most common types of congenital limb anomalies. Patients with failure of formation, failure of differentiation, and undergrowth had intergroup association of anomalies, but duplication and overgrowth tended to be isolated anomalies

The Rate of Addiction in Parents of Children with Congenital Heart Disease Compared with Healthy Children

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Tahereh Boryri

2017-03-01

Full Text Available BackgroundCongenital heart diseases (CHD are the most common congenital anomaly in children and also the leading cause of mortality from congenital anomalies. Various factors including smoking, drinking alcohol and addiction play role in development of congenital heart diseases. This study was conducted with the aim of investigation of the prevalence of addiction in parents of children with congenital heart disease compared with healthy children.Materials and MethodsThis was a case-control study conducted on 320 children with congenital heart disease aged 6 months to 16 years and 320 healthy children as control group. Children referring to Ali Asghar hospital or who were hospitalized in Imam Ali Hospital were included in the study and their demographic characteristics and their parents were collected. Data were analyzed using SPSS 20.ResultsAverage age of diseased and healthy children was 4.08 ± 4.11 and 3.59 ± 2.36, respectively. The rate of addiction of father, mother and parents of children with congenital heart disease was higher than those of children in control group. The most common congenital heart disease was ventricular septal defect (VSD.ConclusionIn overall, this study showed addiction rate of parents in children with congenital heart disease was higher.

Magnetic resonance imaging of congenital heart disease at 0.3 T

International Nuclear Information System (INIS)

Malmgren, N.

1995-11-01

The aim of this study was to systematically evaluate the potential of static MR imaging in congenital heart disease. The diagnosis of vascular rings, causing significant respiratory morbidity, previously required invasive methods for diagnosis. In aberrant left pulmonary artery, an uncommon anomaly, MR imaging at 0.3 T provided complete anatomic information. Complex congenital heart malformation is a diagnostic challenge. MR imaging at 0.3 T was efficient in defining most of the components of complex disease. It is especially valuable for imaging of extracardiac structures, which can be difficult to evaluate using echocardiography. MR imaging is an important complement to echocardiography. Improved equipment with sophisticated dynamic applications using high magnetic field strength is now available. The anatomical evaluation of congenital heart anomalies is however still based on static images, and low field magnets will certainly be used even in the future. 141 refs, 11 figs, 8 tabs

Magnetic resonance imaging of congenital heart disease at 0.3 T

Energy Technology Data Exchange (ETDEWEB)

Malmgren, N

1995-11-01

The aim of this study was to systematically evaluate the potential of static MR imaging in congenital heart disease. The diagnosis of vascular rings, causing significant respiratory morbidity, previously required invasive methods for diagnosis. In aberrant left pulmonary artery, an uncommon anomaly, MR imaging at 0.3 T provided complete anatomic information. Complex congenital heart malformation is a diagnostic challenge. MR imaging at 0.3 T was efficient in defining most of the components of complex disease. It is especially valuable for imaging of extracardiac structures, which can be difficult to evaluate using echocardiography. MR imaging is an important complement to echocardiography. Improved equipment with sophisticated dynamic applications using high magnetic field strength is now available. The anatomical evaluation of congenital heart anomalies is however still based on static images, and low field magnets will certainly be used even in the future. 141 refs, 11 figs, 8 tabs.

Maternal life event stress and congenital anomalies.

Science.gov (United States)

Carmichael, S L; Shaw, G M

2000-01-01

We used data from a population-based case-control study to explore the relation between certain life events during the periconceptional period and several types of congenital anomalies. We ascertained cases from pregnancies ending in 1987-1989 and randomly selected controls from eligible liveborn infants. In telephone interviews, women reported deaths of anyone close to them. They also reported job losses or separations/divorces, for themselves or anyone close to them. Experiencing at least one stressful event during the periconceptional period was associated with a prevalence odds ratio of 1.4-1.5 for the delivery of infants with conotruncal heart defects, neural tube defects, and isolated cleft lip with or without palate. These associations tended to be restricted to women who were not obese and women with less than or equal to a high school education. This study suggests that women who experience stressful life events around the time of conception or early gestation may be at increased risk of delivering infants with certain congenital anomalies.

Congenital laryngeal anomalies,

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Michael J. Rutter

2014-12-01

Full Text Available Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the main aspects concerning airway management of infants will be analyzed. Conclusions: It is critical for clinicians to understand issues relevant to the airway management of infants.

Major congenital anomalies in a Danish region

DEFF Research Database (Denmark)

Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie

2014-01-01

INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995...... mortality decreased significantly over time for cases with major congenital anomalies (p congenital anomaly cases, 8% had a registration of one of these chronic maternal diseases......: diabetes, epilepsy, mental disorder, thyroid disease, asthma, or inflammatory bowel disease. Medication for these conditions accounted for 46% of maternal drug use. CONCLUSION: Maternal morbidity and use of potentially teratogenic medication have increased among congenital anomaly cases. Foetal and infant...

Diagnosis of common congenital heart anomalies in the dog using survey and nonselective contrast radiography

International Nuclear Information System (INIS)

Stickle, R.L.; Anderson, L.K.

1987-01-01

The most common canine congenital heart anomalies include patient ductus arteriosus, ventricular septal defects, tetralogy of Fallot, pulmonic stenosis, and aortic stenosis. Survey radiography and nonselective (venous) angiography can allow the practicing veterinarian to confirm the diagnosis in many of these patients. Typical radiographic findings using these diagnostic procedures are reviewed. Nonselective angiocardiography is a relatively easy, rapid, and noninvasive procedure which can be performed using conventional equipment. The major disadvantage of this special procedure is that the superimposition of opacified structures can make the identification of some left-to-right shunts difficult. Dilution of contrast medium can occur if a rapid bolus injection is not made

An embryological point of view on associated congenital anomalies of children with Hirschsprung disease.

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Slavikova, T; Zabojnikova, L; Babala, J; Varga, I

2015-01-01

The most common congenital gut motility disorder is the Hirschsprung disease (HSCR). This anomaly is characterized by absence of neural crest-derived enteric neuronal ganglia. The aim of our study was to analyze the relationship between HSCR and other congenital anomalies or malfunctions. We examined 130 patients with Hirschsprung disease from Slovakia for last 10 years. During patients examination we focused not only on morphological abnormalities, but also functional anomalies. The incidence of associated congenital anomalies in our patients with HSCR was 26.1 %. But if we add functional defects (hypothyroidism, malfunction in cellular immunity, neurological deficit) to the morphological congenital abnormalities, the rate of the patients with HSCR with additional defects achieves 50.1 %. Nine of our patients (6.9 %) had syndromic HSCR. The most frequent disorder (13.6 % of patients) was primary deficiency in cellular immunity. More than 12.3 % of patients with HSCR had genitourinary abnormalities, in 10.0 % of patients variable degree of psychomotor retardation was observed, and skeletal, muscle and limb anomalies involved 7.7 % of patients. In 7.6 % cases of patients we found congenital hypothyroidism (including 2 cases of agenesis of thyroid gland). More than 6.1 % of patients presented with an associated anomaly in gastrointestinal tract (mostly anorectal malformations). Up to 5.5 % patients had congenital anomaly of heart, 3.8 % had ophthalmic and 3.1 % had craniofacial anomalies. Down syndrome was the main diagnosis in 3.8 % patients. We discussed  the relationship between HSCR and other anomalies, which are probably caused by abnormal migration, proliferation, or differentiation, of neural crest cells during embryogenesis (Tab. 1, Fig. 2, Ref. 75).

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

DEFF Research Database (Denmark)

Garne, Ester; Loane, Maria; Dolk, Helen

2012-01-01

Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies....

Three-dimensional MR imaging of congenital heart disease

International Nuclear Information System (INIS)

Laschinger, J.C.; Vannier, M.W.; Knapp, R.H.; Gutierrez, F.R.; Cox, J.L.

1987-01-01

Contiguous 5-mm thick ECG-gated MR images of the thorax were edited using surface reconstruction techniques to produce three-dimensional (3D) images of the heart and great vessels in four healthy individuals and 25 patients with congenital heart disease (aged 3 months-30 years). Anomalies studied include atrial and ventricular septal defects, aortic coarctation, AV canal defects, double outlet ventricles, hypoplastic left heart syndrome, and a wide spectrum of patients with tetralogy of Fallot. The results were correlated with echocardiographic and cineradiographic studies, and with surgical findings or pathologic specimens. Three-dimensional reconstructions accurately localized the dimensions and locations of all cardiac and great vessel anomalies and often displayed anatomic findings not diagnosed or visualized with other forms of diagnostic imaging

Spectrum of congenital anomalies in pregnancies with pregestational diabetes

NARCIS (Netherlands)

Garne, Ester; Loane, Maria; Dolk, Helen; Barisic, Ingeborg; Addor, Marie-Claude; Arriola, Larraitz; Bakker, Marian; Calzolari, Elisa; Dias, Carlos Matias; Doray, Berenice; Gatt, Miriam; Melve, Kari Klyungsoyr; Nelen, Vera; O'Mahony, Mary; Pierini, Anna; Randrianaivo-Ranjatoelina, Hanitra; Rankin, Judith; Rissmann, Anke; Tucker, David; Verellun-Dumoulin, Christine; Wiesel, Awi

BACKGROUND Maternal pregestational diabetes is a well-known risk factor for congenital anomalies. This study analyses the spectrum of congenital anomalies associated with maternal diabetes using data from a large European database for the population-based surveillance of congenital anomalies.

Frequency of congenital heart disease in newborns in Tuzla Canton (Bosnia and Herzegovina

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Terzić Rifet

2013-01-01

Full Text Available The aim of this paper is to present the preliminary results of the monitoring study of the frequency of congenital heart disease in newborns in Tuzla Canton (Bosnia and Herzegovina, and their distribution by sex of the newborn and maternal age. The study used the data from the book of protocols and case records of the Clinic for Gynecology and Obstetrics, the University Clinical Center in Tuzla. The analysis of 8,521 newborns between 1 January 2007 and 31 December 2008 has resulted in the frequency of 1.76%, i.e. 1.31% for the mature newborns and 0.45% for the premature newborns respectively. Of the total number of registered anomalies, 10% was associated with congenital anomalies of other systems. No statistically significant differences were found in the subsamples of both mature and premature newborns when it comes to the distribution of congenital heart disease by sex of newborns and maternal age. The frequency registered in the analyzed period suggests the necessity of screening and monitoring congenital heart disease in the observed population.

Insulin analogues in pregnancy and specific congenital anomalies

DEFF Research Database (Denmark)

de Jong, Josta; Garne, Ester; Wender-Ozegowska, Ewa

2016-01-01

Insulin analogues are commonly used in pregnant women with diabetes. It is not known if the use of insulin analogues in pregnancy is associated with any higher risk of congenital anomalies in the offspring compared with use of human insulin. We performed a literature search for studies of pregnant...... women with pregestational diabetes using insulin analogues in the first trimester and information on congenital anomalies. The studies were analysed to compare the congenital anomaly rate among foetuses of mothers using insulin analogues with foetuses of mothers using human insulin. Of 29 studies, we...... samples in the included studies provided insufficient statistical power to identify a moderate increased risk of specific congenital anomalies. Copyright © 2015 John Wiley & Sons, Ltd....

Congenital heart disease

Science.gov (United States)

Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

Congenital anomalies of the neonatal head

International Nuclear Information System (INIS)

Benson, C.B.; Teele, R.L.; Dobkin, G.R.; Fine, C.; Bundy, A.L.; Doubilet, P.M.

1987-01-01

US is a noninvasive modality that has proved highly valuable in the assessment of congenital intracranial anomalies in the neonate. The patterns of malformation must be familiar to those who obtain and interpret neonatal cranial sonograms. The authors present a variety of cases of congenital anomalies studied with US, including agenesis of the corpus callosum, Dandy-Walker malformation, occipital enecphalocele, congenital hydrocephalus, vein of Galen aneurysm, hydranencephaly, holoprosencephaly, absence of the septum pellucidum, schizencephaly, and hypoplastic cerebellum. Correlation with other radiographic modalities and pathologic follow-up, available in a majority of cases, is included

Prognosis and Risk Factors for Congenital Airway Anomalies in Children with Congenital Heart Disease: A Nationwide Population-Based Study in Taiwan.

Directory of Open Access Journals (Sweden)

Yu-Sheng Lee

Full Text Available The mortality risk associated with congenital airway anomalies (CAA in children with congenital heart disease (CHD is unclear. This study aimed to investigate the factors associated with CAA, and the associated mortality risk, among children with CHD.This nationwide, population-based study evaluated 39,652 children with CHD aged 0-5 years between 2000 and 2011, using the Taiwan National Health Insurance Research Database (NHIRD. We performed descriptive, logistic regression, Kaplan-Meier, and Cox regression analyses of the data.Among the children with CHD, 1,591 (4.0% had concomitant CAA. Children with CHD had an increased likelihood of CAA if they were boys (odds ratio [OR], 1.48; 95% confidence interval [CI], 1.33-1.64, infants (OR, 5.42; 95%CI, 4.06-7.24, or had a congenital musculoskeletal anomaly (OR, 3.19; 95%CI, 2.67-3.81, and were typically identified 0-3 years after CHD diagnosis (OR, 1.33; 95%CI 1.17-1.51. The mortality risk was increased in children with CHD and CAA (crude hazard ratio [HR], 2.05; 95%CI, 1.77-2.37, even after adjusting for confounders (adjusted HR, 1.76; 95%CI, 1.51-2.04. Mortality risk also changed by age and sex (adjusted HR and 95%CI are quoted: neonates, infants, and toddlers and preschool children, 1.67 (1.40-2.00, 1.93 (1.47-2.55, and 4.77 (1.39-16.44, respectively; and boys and girls, 1.62 (1.32-1.98 and 2.01 (1.61-2.50, respectively.The mortality risk is significantly increased among children with CHD and comorbid CAA. Clinicians should actively seek CAA during the follow-up of children with CHD.

Interventional treatment of common congenital heart diseases: the common view of Chinese medical experts. Part Five-transcatheter intervention for the treatment of compound congenital cardiac anomalies

International Nuclear Information System (INIS)

Committee on Congenital Heart Diseases, Internal Medicine Branch of Cadiovascular Diseases of China Physicians' Association

2011-01-01

Compound congenital cardiac anomalies refer to two or more congenital cardiovascular defects coexisting in the same patient. Transcatheter intervention for compound congenital cardiac anomalies has got satisfactory results in recent years. However, the percutaneous closure procedure used for compound congenital cardiac defects does not mean the simple addition of single interventional technique. Clinically, it needs more specialist expertise to deal with such complex defects. This chapter will briefly describe the pathophysiology and clinical features of the following compound congenital cardiac anomalies: the ventricular septal defect (VSD) with coexistence of atrial septal defect (ASD), patent ductus arteriosus (PDA) or pulmonary valve stenosis (PS), the ASD coexistence of PDA, PS or mitral stenosis (Lutembacher's syndrome), and coarctation of aorta compound with PDA. The indications and contraindications, the therapeutic principles, the matters needing attention, the postoperative management, the judgment of curative effect, etc. of using transcatheter for the treatment of such compound anomalies will also be discussed. (authors)

Interventional treatment of common congenital heart diseases: the common view of Chinese medical experts. Part Five-transcatheter intervention for the treatment of compound congenital cardiac anomalies

Energy Technology Data Exchange (ETDEWEB)

Committee on Congenital Heart Diseases, Internal Medicine Branch of Cadiovascular Diseases of China Physicians' Association

2011-05-15

Compound congenital cardiac anomalies refer to two or more congenital cardiovascular defects coexisting in the same patient. Transcatheter intervention for compound congenital cardiac anomalies has got satisfactory results in recent years. However, the percutaneous closure procedure used for compound congenital cardiac defects does not mean the simple addition of single interventional technique. Clinically, it needs more specialist expertise to deal with such complex defects. This chapter will briefly describe the pathophysiology and clinical features of the following compound congenital cardiac anomalies: the ventricular septal defect (VSD) with coexistence of atrial septal defect (ASD), patent ductus arteriosus (PDA) or pulmonary valve stenosis (PS), the ASD coexistence of PDA, PS or mitral stenosis (Lutembacher's syndrome), and coarctation of aorta compound with PDA. The indications and contraindications, the therapeutic principles, the matters needing attention, the postoperative management, the judgment of curative effect, etc. of using transcatheter for the treatment of such compound anomalies will also be discussed. (authors)

Congenital Heart Defects and Coronary Anatomy

OpenAIRE

Mawson, John B.

2002-01-01

Coronary artery anomalies are a well recognized feature of many cardiac malformations and have been catalogued in a number of reviews. This overview concentrates on 1) the interplay between congenital heart defects and coronary morphogenesis, examining how some of the embryology fits with the experiments of nature encountered in clinical practice; and 2) the influence of coronary anatomy on patient management. This overview uses, as examples, pulmonary atresia with intact ventricular septum, ...

CT diagnosis of congenital anomalies of the central nervous system

International Nuclear Information System (INIS)

Mori, Koreaki

1980-01-01

In the diagnosis of central nervous system congenital anomalies, understanding of embryology of the central nervous system and pathophysiology of each anomaly are essential. It is important for clinical approach to central nervous system congenital anomalies to evaluate the size of the head and tention of the anterior fontanelle. Accurate diagnosis of congenital anomalies depends on a correlation of CT findings to clinical pictures. Clinical diagnosis of congenital anomalies should include prediction of treatability and prognosis, in addition to recognition of a disease. (author)

Trends in congenital anomalies in Europe from 1980 to 2012

Science.gov (United States)

Springett, Anna L.; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bergman, Jorieke E. H.; Csaky-Szunyogh, Melinda; Dias, Carlos; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; McDonnell, Robert; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Kurinczuk, Jennifer; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Dolk, Helen

2018-01-01

Background Surveillance of congenital anomalies is important to identify potential teratogens. Methods This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980–2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003–2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation. PMID:29621304

A Rare de novo Interstitial Duplication at 4p15.2 in a Boy with Severe Congenital Heart Defects, Limb Anomalies, Hypogonadism, and Global Developmental Delay.

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Liang, Liyang; Xie, Yingjun; Shen, Yiping; Yin, Qibin; Yuan, Haiming

2016-01-01

Proximal 4p deletion syndrome is a relatively rare genetic condition characterized by dysmorphic facial features, limb anomalies, minor congenital heart defects, hypogonadism, cafe-au-lait spots, developmental delay, tall and thin habitus, and intellectual disability. At present, over 20 cases of this syndrome have been published. However, duplication of the same region in proximal 4p has never been reported. Here, we describe a 2-year-5-month-old boy with severe congenital heart defects, limb anomalies, hypogonadism, distinctive facial features, pre- and postnatal developmental delay, and mild cognitive impairments. A de novo 4.5-Mb interstitial duplication at 4p15.2p15.1 was detected by chromosomal microarray analysis. Next-generation sequencing was employed and confirmed the duplication, but revealed no additional pathogenic variants. Several candidate genes in this interval responsible for the complex clinical phenotype were identified, such as RBPJ, STIM2, CCKAR, and LGI2. The results suggest a novel contiguous gene duplication syndrome. © 2016 S. Karger AG, Basel.

Heart transplantation in adults with congenital heart disease.

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Houyel, Lucile; To-Dumortier, Ngoc-Tram; Lepers, Yannick; Petit, Jérôme; Roussin, Régine; Ly, Mohamed; Lebret, Emmanuel; Fadel, Elie; Hörer, Jürgen; Hascoët, Sébastien

2017-05-01

With the advances in congenital cardiac surgery and postoperative care, an increasing number of children with complex congenital heart disease now reach adulthood. There are already more adults than children living with a congenital heart defect, including patients with complex congenital heart defects. Among these adults with congenital heart disease, a significant number will develop ventricular dysfunction over time. Heart failure accounts for 26-42% of deaths in adults with congenital heart defects. Heart transplantation, or heart-lung transplantation in Eisenmenger syndrome, then becomes the ultimate therapeutic possibility for these patients. This population is deemed to be at high risk of mortality after heart transplantation, although their long-term survival is similar to that of patients transplanted for other reasons. Indeed, heart transplantation in adults with congenital heart disease is often challenging, because of several potential problems: complex cardiac and vascular anatomy, multiple previous palliative and corrective surgeries, and effects on other organs (kidney, liver, lungs) of long-standing cardiac dysfunction or cyanosis, with frequent elevation of pulmonary vascular resistance. In this review, we focus on the specific problems relating to heart and heart-lung transplantation in this population, revisit the indications/contraindications, and update the long-term outcomes. Copyright © 2017. Published by Elsevier Masson SAS.

Congenital anomalies and normal skeletal variants

International Nuclear Information System (INIS)

Guebert, G.M.; Yochum, T.R.; Rowe, L.J.

1987-01-01

Congenital anomalies and normal skeletal variants are a common occurrence in clinical practice. In this chapter a large number of skeletal anomalies of the spine and pelvis are reviewed. Some of the more common skeletal anomalies of the extremities are also presented. The second section of this chapter deals with normal skeletal variants. Some of these variants may simulate certain disease processes. In some instances there are no clear-cut distinctions between skeletal variants and anomalies; therefore, there may be some overlap of material. The congenital anomalies are presented initially with accompanying text, photos, and references, beginning with the skull and proceeding caudally through the spine to then include the pelvis and extremities. The normal skeletal variants section is presented in an anatomical atlas format without text or references

Anaesthetic management of patients with congenital heart disease presenting for non-cardiac surgery.

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Mohindra R

2002-01-01

Full Text Available The incidence of congenital heart disease is about one percent of all live births in the United States. Treatment is being performed at a younger age and these children are showing improved survival. It is not unusual for children with congenital heart disease to present for non-cardiac surgery. Their management depends on their age, type of lesion, extent of corrective procedure, the presence of complications and other congenital anomalies. Each patient needs a detailed pre-operative evaluation to understand the abnormal anatomy and physiology, and related anaesthetic implications. No anaesthetic agent is an absolute contraindication, although drugs beneficial for one lesion may be detrimental for another. Regional anaesthesia has also been safely used in children with congenital heart disease. However the anaesthesiologist must have a detailed understanding of the pathophysiology of the lesion and the pharmacology of drugs being used to be able to provide safe anaesthesia for children with congenital heart disease.

Choosing Between MRI and CT Imaging in the Adult with Congenital Heart Disease.

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Bonnichsen, Crystal; Ammash, Naser

2016-05-01

Improvements in the outcomes of surgical and catheter-based interventions and medical therapy have led to a growing population of adult patients with congenital heart disease. Adult patients with previously undiagnosed congenital heart disease or those previously palliated or repaired may have challenging echocardiographic examinations. Understanding the distinct anatomic and hemodynamic features of the congenital anomaly and quantifying ventricular function and valvular dysfunction plays an important role in the management of these patients. Rapid advances in imaging technology with magnetic resonance imaging (MRI) and computed tomography angiography (CTA) allow for improved visualization of complex cardiac anatomy in the evaluation of this unique patient population. Although echocardiography remains the most widely used imaging tool to evaluate congenital heart disease, alternative and, at times, complimentary imaging modalities should be considered. When caring for adults with congenital heart disease, it is important to choose the proper imaging study that can answer the clinical question with the highest quality images, lowest risk to the patient, and in a cost-efficient manner.

Intraventricular Hemorrhage in Moderate to Severe Congenital Heart Disease.

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Ortinau, Cynthia M; Anadkat, Jagruti S; Smyser, Christopher D; Eghtesady, Pirooz

2018-01-01

Determine the prevalence of intraventricular hemorrhage in infants with moderate to severe congenital heart disease, investigate the impact of gestational age, cardiac diagnosis, and cardiac intervention on intraventricular hemorrhage, and compare intraventricular hemorrhage rates in preterm infants with and without congenital heart disease. A single-center retrospective review. A tertiary care children's hospital. All infants admitted to St. Louis Children's Hospital from 2007 to 2012 with moderate to severe congenital heart disease requiring cardiac intervention in the first 90 days of life and all preterm infants without congenital heart disease or congenital anomalies/known genetic diagnoses admitted during the same time period. None. Cranial ultrasound data were reviewed for presence/severity of intraventricular hemorrhage. Head CT and brain MRI data were also reviewed in the congenital heart disease infants. Univariate analyses were undertaken to determine associations with intraventricular hemorrhage, and a final multivariate logistic regression model was performed. There were 339 infants with congenital heart disease who met inclusion criteria and 25.4% were born preterm. Intraventricular hemorrhage was identified on cranial ultrasound in 13.3% of infants, with the majority of intraventricular hemorrhage being low-grade (grade I/II). The incidence increased as gestational age decreased such that intraventricular hemorrhage was present in 8.7% of term infants, 19.2% of late preterm infants, 26.3% of moderately preterm infants, and 53.3% of very preterm infants. There was no difference in intraventricular hemorrhage rates between cardiac diagnoses. Additionally, the rate of intraventricular hemorrhage did not increase after cardiac intervention, with only three infants demonstrating new/worsening high-grade (grade III/IV) intraventricular hemorrhage after surgery. In a multivariate model, only gestational age at birth and African-American race were predictors

Congenital anomalies of the limbs in mythology and antiquity.

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Mavrogenis, Andreas F; Markatos, Konstantinos; Nikolaou, Vasilios; Gartziou-Tatti, Ariadne; Soucacos, Panayotis N

2018-04-01

Congenital anomalies of the limbs have been observed since ancient human civilizations, capturing the imagination of ancient physicians and people. The knowledge of the era could not possibly theorize on the biologic aspects of these anomalies; however, from the very beginning of civilization the spiritual status of people attempted to find a logical explanation for the existence of such cases. The next logical step of the spiritual and religious system of the ancients was to correlate these anomalies with the Gods and to attribute them to a different level of existence in order to rationalize their existence. In these settings, the mythology and religious beliefs of ancient civilizations comprised several creatures that were related to the observed congenital anomalies in humans. The purpose of this historic review is to summarize the depiction of congenital anomalies of the limbs in mythology and antiquity, to present several mythological creatures with resemblance to humans with congenital anomalies of the limbs, to present the atmosphere of the era concerning the congenital anomalies, and to theorize on the anomaly and medical explanation upon which such creatures were depicted. Our aim is to put historic information in one place, creating a comprehensive review that the curious reader would find interesting and enjoyable.

Congenital anomalies of the male urethra

International Nuclear Information System (INIS)

Levin, Terry L.; Han, Bokyung; Little, Brent P.

2007-01-01

The spectrum of congenital anomalies of the male urethra is presented. The embryologic basis of each anomaly, when known, is discussed. Clinical and imaging features of each entity are presented. (orig.)

Congenital anomalies in Primorsky region.

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Kiku, P; Voronin, S; Golokhvast, K

2015-01-01

According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

Congenital hand anomalies in Upper Egypt

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Tarek Abulezz

2016-01-01

Full Text Available Background: Congenital hand anomalies are numerous and markedly variant. Their significance is attributed to the frequent occurrence and their serious social, psychological and functional impacts on patient's life. Patients and Methods: This is a follow-up study of 64 patients with hand anomalies of variable severity. All patients were presented to Plastic Surgery Department of Sohag University Hospital in a period of 24 months. Results: This study revealed that failure of differentiation and duplication deformities were the most frequent, with polydactyly was the most common anomaly encountered. The mean age of presentation was 6 years and female to male ratio was 1.46:1. Hand anomalies were either isolated, associated with other anomalies or part of a syndrome. Conclusion: Incidence of congenital hand anomalies in Upper Egypt is difficult to be estimated due to social and cultural concepts, lack of education, poor registration and deficient medical survey. Management of hand anomalies should be individualised, carefully planned and started as early as possible to achieve the best outcome.

Congenital Heart Information Network

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... heart defects. Important Notice The Congenital Heart Information Network website is temporarily out of service. Please join ... and Uwe Baemayr for The Congenital Heart Information Network Exempt organization under Section 501(c)3. Copyright © ...

Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

Directory of Open Access Journals (Sweden)

Maria Arafah

2011-01-01

Full Text Available Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

Congenital Heart Defects and CCHD

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... and more. Stony Point, NY 10980 Close X Home > Complications & Loss > Birth defects & other health conditions > Congenital heart defects and ... in congenital heart defects. You have a family history of congenital heart ... syndrome or VCF. After birth Your baby may be tested for CCHD as ...

Congenital heart defects and extracardiac malformations.

Science.gov (United States)

Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

2013-06-01

To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

The Risk of Specific Congenital Anomalies in Relation to Newer Antiepileptic Drugs

DEFF Research Database (Denmark)

de Jong, Josta; Garne, Ester; de Jong-van den Berg, Lolkje T.W.

2016-01-01

BACKGROUND: More information is needed about possible associations between the newer anti-epileptic drugs (AEDs) in the first trimester of pregnancy and specific congenital anomalies of the fetus. OBJECTIVES: We performed a literature review to find signals for potential associations between newer...... studies with pregnancies exposed to newer AEDs and detailed information on congenital anomalies. The congenital anomalies in the studies were classified according to the congenital anomaly subgroups of European Surveillance of Congenital Anomalies (EUROCAT). We compared the prevalence of specific...... and were not supported by other studies. No signals were found for the other newer AEDs, or the information was too limited to provide such a signal. CONCLUSION: In terms of associations between monotherapy with a newer AED in the first trimester of pregnancy and a specific congenital anomaly, the signals...

Basic imaging in congenital heart disease. 3rd Ed

International Nuclear Information System (INIS)

Swischuk, L.E.; Sapire, D.W.

1986-01-01

The book retains its previous format with chapters on embryology, plain film interpretation, classification of pulmonary vascular patterns, cardiac malpositions and vascular anomalies, and illustrative cases. The book is organized with an abundance of illustrative figures, diagrams, and image reproductions. These include plain chest radiographs, angiograms, echocardiograms, and MR images. The authors present the pathophysiology and imaging of congenital heart lesions

Congenital anomalies of the spine: radiologic findings

Energy Technology Data Exchange (ETDEWEB)

Ryu, Jung Kyu; Kim, Sang Won; Ryu, Kyung Nam [Kyunghee University College of Medicine, Seoul (Korea, Republic of)

2003-04-01

Congenital anomalies of the spine are frequent and variable. Some are restricted to skeletal structures, while others involve combine neural tube defects or are associated with other multi-systemic disorders. Structural spinal anomalies can be classified according to their location: 1) the vertebral body, 2) the articular process, 3) the lamina with spinous process, 4) the pars interarticularis, 5) the facet joint, 6) the pedicle, or 7) other. Because of similarities between these congenital anomalies and (a) secondary changes involving infection or joint disease and (b) deformities resulting from trauma and uncertain tumorous conditions, significant confusion can occur during diagnosis. Moreover, since the anomalies often give rise to both functional impairment and cosmetic problem, appropriate treatment relies crucially on accurate diagnosis. The authors illustrate the pathogenesis and radiologic findings of the relatively common spinal anomalies confined to skeletal structures.

Selective serotonin reuptake inhibitor antidepressant use in first trimester pregnancy and risk of congenital anomalies

DEFF Research Database (Denmark)

Wemakor, A.; Casson, K.; Garne, E.

2015-01-01

Objective / Background The Selective Serotonin Reuptake Inhibitor (SSRI) antidepressants are widely prescribed in pregnancy, but there is evidence that they may cause congenital anomalies, particularly congenital heart defects (CHD). Objective: To determine the specificity of association between...... first trimester pregnancy exposure to individual SSRI and specific congenital anomalies (CAs). Methods Population-based case-malformed control study covering 3.3 million births from 12 EUROCAT registries 1995-2009. CAs included non-syndromic live births, fetal deaths and terminations of pregnancy......% confidence intervals (CI) were calculated adjusted for registry. Results SSRI use in first trimester pregnancy was associated with CHD overall (OR 1.38, 95 % CI 1.05-1.82, n=109); and with severe CHDs (OR 1.56, 95 % CI 1.03-2.38, n=29). Specific associations between SSRI and Tetralogy of Fallot (OR 3.36, 95...

General Concepts in Adult Congenital Heart Disease.

Science.gov (United States)

Mutluer, Ferit Onur; Çeliker, Alpay

2018-01-20

Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face.

General Concepts in Adult Congenital Heart Disease

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Ferit Onur Mutluer

2018-02-01

Full Text Available Congenital heart disease in adults (adult congenital heart disease is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This manuscript aims to provide an overview of the common adult congenital heart diseases and summarize important points in management of these diseases with possible problems and complications that the patients and the physicians face

Increased Prevalence of Renal and Urinary Tract Anomalies in Children with Congenital Hypothyroidism

Science.gov (United States)

Kumar, Juhi; Gordillo, Roberto; Kaskel, Frederick J.; Druschel, Charlotte M.; Woroniecki, Robert P.

2013-01-01

Objective We investigated the prevalence of congenital renal and urologic anomalies in children with congenital hypothyroidism to determine whether further renal and urologic investigations would be of benefit. Study design Prevalence of congenital hypothyroidism was obtained from the New York State Congenital Malformation Registry. The occurrence of urinary tract anomalies were calculated for children with congenital hypothyroidism and compared to children without congenital hypothyroidism. In addition we obtained congenital hypothyroidism data from New York State newborn screening, and the cases were matched to Congenital Malformation Registry. Results Analysis of Congenital Malformation Registry data showed 980 children with congenital hypothyroidism and 3 661 585 children without congenital hypothyroidism born in New York State (1992-2005). Children with congenital hypothyroidism have a significantly increased risk of congenital renal and urological anomalies with the odds ratio (OR) of 13.2 (10.6-16.5). The other significantly increased defects in congenital hypothyroidism were cardiac, gastrointestinal, and skeletal. Analysis of matched data confirmed an increase of congenital renal and urologic anomalies with OR of 4.8 (3.7-6.3). Conclusions Children with congenital hypothyroidism have an increased prevalence of congenital renal and urologic anomalies. We suggest that these children should be evaluated for the presence of congenital renal and urologic anomalies with renal ultrasonography, and that further studies of common genes involved in thyroid and kidney development are warranted. PMID:18823909

Genetics Home Reference: critical congenital heart disease

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... Facebook Twitter Home Health Conditions Critical congenital heart disease Critical congenital heart disease Printable PDF Open All Close All ... for Disease Control and Prevention: Congenital Heart Defects Disease InfoSearch: Congenital Heart Defects KidsHealth from Nemours Lucile Packard Children's ...

Extra Lobes of Liver and Congenital Anomalies of Diaphragm in Children

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I.P. Zhurylo

2014-09-01

Full Text Available The literature data on hepatic congenital anomalies in children are summarized in this article. Three clinical observations of transposition of extra lobe of the liver (ELL into the thoracic cavity in children were analyzed. The true diaphragmatic hernia was found in all cases. Clinical manifestations of this disease depend on the severity of the compression of mediastinum organs. Indications for surgical correction were determined individually. ELL move into the abdominal cavity, excision of the hernia sac and alloplasty of the diaphragmatic defect were performed for one patient. Possible mechanisms for the formation of these complex congenital malformations were discussed based on the comparison of clinical data with the stages of embryogenesis liver, diaphragm and heart.

Long-term tricuspid valve prosthesis-related complications in patients with congenital heart disease

NARCIS (Netherlands)

van Slooten, Ymkje J.; Freling, Hendrik G.; van Melle, Joost P.; Mulder, Barbara J. M.; Jongbloed, Monique R. M.; Ebels, Tjark; Voors, Adriaan A.; Pieper, Petronella G.

2014-01-01

In patients with acquired valvar disease, morbidity and mortality rates after tricuspid valve replacement (TVR) are high. However, in adult patients with congenital heart disease, though data concerning outcome after TVR are scarce, even poorer results are suggested in patients with Ebstein anomaly.

Study of prevalence & risk factors of congenital heart defect (Review Article

Directory of Open Access Journals (Sweden)

ali dehghani

2017-09-01

Full Text Available Abstract Background: Congenital heart defects are known as the state that comes from birth and influences on structure and function of baby's heart, The different types of defects can range from mild (e.g., a small hole between the heart chambers to hard (like a flaw or weakness in a part of the heart. Method: This article is a review article in which the articles published in Farsi and English that the bases valid as Medline, Google Scholar, Pubmed, Springer, SID index has been used, as well as for the study of keywords associated with the use of MESH keywords in identifying and no time limit listed in the databases were searched. Result The prevalence of congenital heart defect, in general, less than one per cent in newborn. The ventricular wall abnormalities defect (VSD, atrial septal defect of (ASD, patent ductus arteriosus (PDA and tetralogy of Fallot (TOF Top among the most types of congenital heart anomalies. Factors such as the age of the parents at conception, maternal risk of diabetes, influenza and febrile illness during pregnancy, drug use during pregnancy and taking a multivitamin before and during the Pregnancy were influenced of newborns with congenital heart defects. Conclusion: According to studies need to be conducted in the presence of multiple risk factors for these disorders, seem to have a detailed plan to Study of More about the factors that affect the risk of developing these disorders, as well as interventions to reduce risk factors identified particularly during pregnancy.

The association of congenital neuroblastoma and congenital heart disease

International Nuclear Information System (INIS)

Bellah, R.; D'Andrea, A.; Children's Hospital, Boston, MA; Darillis, E.; Fellows, K.E.

1989-01-01

Several authors have reported an association between neuroblastoma and congenital heart disease; others contend that, unlike specific wellknown associations between malignancy and congenital defects (Wilm's tumor and aniridia, leukemia and Down's syndrome), no real relationship exists. We present three cases of cyanotic congenital heart disease in which subclinical neuroblastoma was found. We speculate that abnormal neural crest cell migration and development may be a common link between cardiac malformations and congenital neuroblastoma. (orig.)

The helical ventricular myocardial band of Torrent-Guasp: potential implications in congenital heart defects.

Science.gov (United States)

Corno, Antonio F; Kocica, Mladen J; Torrent-Guasp, Francisco

2006-04-01

The new concepts of cardiac anatomy and physiology, based on the observations made by Francisco Torrent-Guasp's discovery of the helical ventricular myocardial band, can be useful in the context of the surgical strategies currently used to manage patients with congenital heart defects. The potential impact of the Torrent-Guasp's Heart on congenital heart defects have been analyzed in the following settings: ventriculo-arterial discordance (transposition of the great arteries), double (atrio-ventricular and ventriculo-arterial) discordance (congenitally corrected transposition of the great arteries), Ebstein's anomaly, pulmonary valve regurgitation after repair of tetralogy of Fallot, Ross operation, and complex intra-ventricular malformations. The functional interaction of right and left ventricles occurs not only through their arrangements in series but also thanks to the structural spiral features. Changes in size and function of either ventricle may influence the performance of the other ventricle. The variety and complexity of congenital heart defects make the recognition of the relationship between form and function a vital component, especially when compared to acquired disease. The new concepts of cardiac anatomy and function proposed by Francisco Torrent-Guasp, based on his observations, should stimulate further investigations of alternative surgical strategies by individuals involved with the management of patients with congenital heart defects.

Paper 3: EUROCAT data quality indicators for population-based registries of congenital anomalies

DEFF Research Database (Denmark)

Loane, Maria; Dolk, Helen; Garne, Ester

2011-01-01

The European Surveillance of Congenital Anomalies (EUROCAT) network of population-based congenital anomaly registries is an important source of epidemiologic information on congenital anomalies in Europe covering live births, fetal deaths from 20 weeks gestation, and terminations of pregnancy for...

Educational series in congenital heart disease:Congenital left-sided heart obstruction

OpenAIRE

Carr, Michelle; Curtis, Stephanie; Marek, Jan

2018-01-01

Congenital obstruction of the left ventricular outflow tract remains a significant problem and multilevel obstruction can often coexist. Obstruction can take several morphological forms and may involve the subvalvar, valvar or supravalvar portion of the aortic valve complex. Congenital valvar stenosis presenting in the neonatal period represents a spectrum of disorders ranging from the hypoplastic left heart syndrome to almost normal hearts. Treatment options vary dependent on the severity of...

MR imaging of congenital heart diseases in adolescents and adults

International Nuclear Information System (INIS)

Choe, Yeon Hyeon; Kang, I Seok; Park, Seung Woo; Lee, Heung Jae

2001-01-01

Echocardiography and catheterization angiography suffer certain limitations in the evaluation of congenital heart diseases in adults, though these are overcome by MRI, in which a wide field-of view, unlimited multiplanar imaging capability and three-dimensional contrast-enhanced MR angiography techniques are used. In adults, recently introduced fast imaging techniques provide cardiac MR images of sufficient quality and with less artifacts. Ventricular volume, ejection fraction, and vascular flow measurements, including pressure gradients and pulmonary-to-systemic flow ratio, can be calculated or obtained using fast cine MRI, phase-contrast MR flow-velocity mapping, and semiautomatic analysis software. MRI is superior to echocardiography in diagnosing partial anomalous pulmonary venous connection, unroofed coronary sinus, anomalies of the pulmonary arteries, aorta and systemic veins, complex heart diseases, and postsurgical sequelae. Biventricular function is reliably evaluated with cine MRI after repair of tetralogy of Fallot, and Senning's and Mustard's operations. MRI has an important and growing role in the morphologic and functional assessment of congenital heart diseases in adolescents and adults

Helical CT of congenital ossicular anomalies

International Nuclear Information System (INIS)

Osada, Hisato; Machida, Kikuo; Honda, Norinari

2001-01-01

Since January 1996 to December 2000, 26 cases of congenital ossicular anomaly could be diagnosed with helical CT. All cases were unilateral. In 8 patients with malformation of the external ear, CT showed malleoincudal fixation (n=5), malleoincudal fixation and deformed incuts long process (n=1), deformed incus long process (n=1), and partial fusion of malleus neck and incus long process (n=1). In 18 patients with normal external ear, CT showed defect of the incus long process (n=5), defect of both the incus long process and stapes superstructure (n=8, 2 patients with congenital cholesteatoma, 1 with hypoplastic oval window), defect of the stapes superstructure (n=2, 1 patient with oval window absence), defect of the malleus manubrium (n=1), ossification of the stampede's tendon (n=1), and monopod stapes (n=1). Helical CT can evaluate the auditory ossicular chain in detail and is useful for diagnosing congenital ossicular anomaly. (author)

Contrast-enhanced time-resolved 4D MRA of congenital heart and vessel anomalies: image quality and diagnostic value compared with 3D MRA

Energy Technology Data Exchange (ETDEWEB)

Vogt, Florian M.; Hunold, Peter; Barkhausen, Joerg [University Hospital Schleswig-Holstein, Clinic for Radiology and Nuclear Medicine, Luebeck (Germany); Theysohn, Jens M.; Kinner, Sonja [University Hospital Essen, Department of Diagnostic and Interventional Radiology and Neuroradiology, Essen (Germany); Michna, Dariusz [Elisabeth Hospital, Department of Neonatology, Essen (Germany); Neudorf, Ulrich [University Hospital Essen, Clinic for Pediatrics III, Essen (Germany); Quick, Harald H. [University of Erlangen-Nuernberg, Institute of Medical Physics, Erlangen (Germany)

2013-09-15

To evaluate time-resolved interleaved stochastic trajectories (TWIST) contrast-enhanced 4D magnetic resonance angiography (MRA) and compare it with 3D FLASH MRA in patients with congenital heart and vessel anomalies. Twenty-six patients with congenital heart and vessel anomalies underwent contrast-enhanced MRA with both 3D FLASH and 4D TWIST MRA. Images were subjectively evaluated regarding total image quality, artefacts, diagnostic value and added diagnostic value of 4D dynamic imaging. Quantitative comparison included signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR) and vessel sharpness measurements. Three-dimensional FLASH MRA was judged to be significantly better in terms of image quality (4.0 {+-} 0.6 vs 3.4 {+-} 0.6, P < 0.05) and artefacts (3.8 {+-} 0.4 vs 3.3 {+-} 0.5, P < 0.05); no difference in diagnostic value was found (4.2 {+-} 0.4 vs 4.0 {+-} 0.4); important additional functional information was found in 21/26 patients. SNR and CNR were higher in the pulmonary trunk in 4D TWIST, but slightly higher in the systemic arteries in 3D FLASH. No difference in vessel sharpness delineation was found. Although image quality was inferior compared with 3D FLASH MRA, 4D TWIST MRA yields robust images and added diagnostic value through dynamic acquisition was found. Thus, 4D TWIST MRA is an attractive alternative to 3D FLASH MRA. (orig.)

EUROCAT website data on prenatal detection rates of congenital anomalies

DEFF Research Database (Denmark)

Garne, Ester; Dolk, Helen; Loane, Maria

2010-01-01

The EUROCAT website www.eurocat-network.eu publishes prenatal detection rates for major congenital anomalies using data from European population-based congenital anomaly registers, covering 28% of the EU population as well as non-EU countries. Data are updated annually. This information can be us...

EUROCAT website data on prenatal detection rates of congenital anomalies

NARCIS (Netherlands)

Garne, Ester; Dolk, Helen; Loane, Maria; Boyd, Patricia A.

2010-01-01

The EUROCAT website www.eurocat-network.eu publishes prenatal detection rates for major congenital anomalies using data from European population-based congenital anomaly registers, covering 28% of the EU population as well as non-EU countries. Data are updated annually. This information can be

Radiology of congenital heart disease

International Nuclear Information System (INIS)

Amplatz, K.

1986-01-01

This is a text on the radiologic diagnosis of congenital heart disease and its clinical manifestations. The main thrust of the book is the logical approach which allows an understanding of the complex theory of congenital heart disease. The atlas gives a concise overview of the entire field of congenital heart disease. Emphasis is placed on the understanding of the pathophysiology and its clinical and radiological consequences. Surgical treatment is included since it provides a different viewpoint of the anatomy

Congenital anomalies in infants conceived by assisted reproductive techniques.

Science.gov (United States)

Mozafari Kermani, Ramin; Nedaeifard, Leila; Nateghi, Mohammad Reza; Shahzadeh Fazeli, Abolhassan; Ahmadi, Ebrahim; Osia, Mohammad Ali; Jafarzadehpour, Ebrahim; Nouri, Soudabeh

2012-04-01

Many studies show that congenital defects in infants conceived by assisted reproductive techniques (ART) are more than infants of normal conception (NC). The aim of this study is to determine the frequency of congenital anomalies in ART infants from Royan Institute and to compare congenital anomalies between two ART techniques.  In a cross-sectional descriptive study, 400 ART infants from Royan Institute who resided in Tehran were selected by non-random, consecutive sampling. Infants were examined twice (until 9 months of age) by a pediatrician. Infants' congenital anomalies were described by each body system or organ and type of ART. Data were analyzed by SPSS version 16 and Fisher's exact test. The frequency of different organ involvement in the two examinations were: 40 (10%) skin, 25 (6.2%) urogenital system, 21 (5.2%) gastrointestinal tract, 13 (3.2%) visual, and 8 (2%) cardiovascular system. Major congenital defects in infants conceived by in vitro fertilization (IVF) and intracytoplasmic sperm injection (ICSI) were hypospadiasis, inguinal hernia, patent ductus arteriosus plus ventricular septal defect (PDA + VSD), developmental dysplasia of the hip, lacrimal duct stenosis during the first year of life, hydronephrosis and urinary reflux over grade III, undescending testis, ureteropelvic junction stenosis, and torticoli. Two-thirds of ART infants had no defects. A total of 7% of IVF and ICSI infants had one of the major abovementioned congenital anomalies. This rate was higher than NC infants (2%-3%). There was no difference between the ICSI and IVF group.

Congenital eye and adneial anomalies in Kano, a 5 year review ...

African Journals Online (AJOL)

Background: Knowledge of prevalence and types of congenital eye and adnexial anomalies is important as some of these anomalies can lead to childhood blindness. The aim of the study is to determine the types of congenital eye and adnexial anomalies seen in the eye clinic of Aminu Kano Teaching Hospital Kano, ...

Comparative study of the congenital anomalies before and after Chernobyl disaster

International Nuclear Information System (INIS)

Zaprjanov, Z.; Porjazova, E.; Djambazova, S.; Hubavenska, I.; Velichkova, L.

2005-01-01

The aim of our study was a comparative examination of the congenital anomalies before and directly after the Chernobyl disaster in the early and later periods of time. For the study post mortem material of the Department of general and clinical pathology at the Medical University of Plovdiv was used. Eight hundred seventy eight cases of newborns with congenital anomalies for a 24-year period (1981-2004) were reviewed. The number of the congenital anomalies was compared quantitatively in general and in systems. Equal 5-year intervals of time were compared to a control 5-year period before the Chernobyl accident. The data were statistically processed using different statistical methods. The comparative study of the number of the congenital anomalies did not show a statistically significant increase in relation to the nuclear accident

Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

Science.gov (United States)

Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

2015-07-01

The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described.

Comparison of diagnostic accuracy of dual-source CT and conventional angiography in detecting congenital heart diseases

International Nuclear Information System (INIS)

Sedaghat, Fariborz; Pouraliakbar, Hamidreza; Motevalli, Marzieh; Karimi, Mohammad Ali; Armand, Sandbad

2014-01-01

Cardiac dual-source computed tomography (DSCT) is primarily used for coronary arteries. There are limited studies about the application of DSCT for congenital heart diseases. The aim of this study was to determine the diagnostic value of DSCT in the cardiac anomalies. The images of DSCTs and conventional angiographies of 36 patients (21 male; mean age: 8.5 month) with congenital heart diseases were reviewed and the parameters of diagnostic value of these methods were compared. Cardiac surgery was the gold standard. A total of 105 cardiac anomalies were diagnosed at surgery. Sensitivity, specificity, positive predictive value, negative predictive value, and accuracy of DSCT were 98.25%, 97.9%, 98.1%, 99.07%, and 98.2%, respectively. The corresponding values of angiography were 95.04%, 98.7%, 97.8%, 98.1%, and 98%, respectively. Only one atrial septal defect (ASD) and two patent ductus arteriosus (PDA) were missed by DSCT. Angiography missed two ASD and two PDA. DSCT also provided important additional findings (n=35) about the intrathoracic or intraabdominal organs. DSCT is a highly accurate diagnostic modality for congenital heart diseases, obviating the need for invasive modalities. Beside its noninvasive nature, the advantage of DSCT over the angiography is its ability to provide detailed anatomical information about the heart, vessels, lungs and intraabdominal organs

Genetically caused congenital anomalies of reproductive system

Directory of Open Access Journals (Sweden)

L. F. Kurilo

2013-01-01

Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

Congenital anomalies and proximity to landfill sites.

LENUS (Irish Health Repository)

Boyle, E

2004-01-01

The occurrence of congenital anomalies in proximity to municipal landfill sites in the Eastern Region (counties Dublin, Kildare, Wicklow) was examined by small area (district electoral division), distance and clustering tendancies in relation to 83 landfills, five of which were major sites. The study included 2136 cases of congenital anomaly, 37,487 births and 1423 controls between 1986 and 1990. For the more populous areas of the region 50% of the population lived within 2-3 km of a landfill and within 4-5 km for more rural areas. In the area-level analysis, the standardised prevalence ratios, empirical and full Bayesian modelling, and Kulldorff\\'s spatial scan statistic found no association between the residential area of cases and location of landfills. In the case control analysis, the mean distance of cases and controls from the nearest landfill was similar. The odds ratios of cases compared to controls for increasing distances from all landfills and major landfills showed no significant difference from the baseline value of 1. The kernel and K methods showed no tendency of cases to cluster in relationship to landfills. In conclusion, congenital anomalies were not found to occur more commonly in proximity to municipal landfills.

Health in adults with congenital heart disease.

Science.gov (United States)

Cuypers, Judith A A E; Utens, Elisabeth M W J; Roos-Hesselink, Jolien W

2016-09-01

Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Estimating Global Burden of Disease due to congenital anomaly

DEFF Research Database (Denmark)

Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz

2018-01-01

OBJECTIVE: To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal...... the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention....

Cyanotic congenital heart disease and atherosclerosis

DEFF Research Database (Denmark)

Tarp, Julie Bjerre; Jensen, Annette Schophuus; Engstrøm, Thomas

2017-01-01

Improved treatment options in paediatric cardiology and congenital heart surgery have resulted in an ageing population of patients with cyanotic congenital heart disease (CCHD). The risk of acquired heart disease such as atherosclerosis increases with age.Previous studies have speculated whether...

Chromosomal study in newborn infants with congenital anomalies in ...

African Journals Online (AJOL)

Congenital anomalies were found in 103 cases with a prevalence of 2.06% with male to female ratio of 1.7:1. Skeletal system anomalies had the highestfrequency (37.9%), followed in descending order by chromosomal abnormalities (27.2%), circulatory system anomalies (22.3%), central nervous system (CNS) anomalies ...

MR imaging evaluation of congenital spine anomalies

International Nuclear Information System (INIS)

Bury, E.A.; Zimmerman, R.A.; Grossman, R.I.; Goldberg, H.I.; Bilaniuk, L.T.; Hackney, D.B.

1987-01-01

Over a 2-year period, 135 patients between the ages of 1 week and 18 years were examined with MR imaging for possible congenital anomalies of the spine and spinal cord. Tethered cords with various other associated pathologies such as lipomas and myelomeningoceles were found in 36 patients. The remaining abnormal examinations consisted of syrinxes, Chiari malformations, diastematomyelia, and conus masses. In 55 patients the studies were interpreted as normal. Of these, three were subsequently shown by surgery of myelography to be abnormal. The first had a thickened filum with a small epidermoid, the second a thickened filum, and the third, with only sagittal images, a diastematomyelia. Children presenting with symptoms highly suspicious for congenital abnormalities but with a normal MR study in multiple planes may still require further evaluation with myelography. Multiplanar MR examination in most instances will be a sufficient evaluation for congenital anomalies

Major congenital anomalies in babies born with Down syndrome

DEFF Research Database (Denmark)

Morris, Joan K; Garne, Ester; Wellesley, Diana

2014-01-01

Previous studies have shown that over 40% of babies with Down syndrome have a major cardiac anomaly and are more likely to have other major congenital anomalies. Since 2000, many countries in Europe have introduced national antenatal screening programs for Down syndrome. This study aimed...... to determine if the introduction of these screening programs and the subsequent termination of prenatally detected pregnancies were associated with any decline in the prevalence of additional anomalies in babies born with Down syndrome. The study sample consisted of 7,044 live births and fetal deaths with Down...... syndrome registered in 28 European population-based congenital anomaly registries covering seven million births during 2000-2010. Overall, 43.6% (95% CI: 42.4-44.7%) of births with Down syndrome had a cardiac anomaly and 15.0% (14.2-15.8%) had a non-cardiac anomaly. Female babies with Down syndrome were...

Imaging of congenital anomalies of the temporal bone.

Science.gov (United States)

Benton, C; Bellet, P S

2000-02-01

This article briefly presents the embryology of the ear and discusses the external auditory canal and middle ear, including first branchial cleft anomalies, external auditory canal atresia and stenoses, congenital cholesteatoma, and congenital teratoma. Topics related to the labyrinths include aplasia, the common-chamber anomaly, the pseudo-Mondini and Mondini malformations, semicircular canal dysplasia, and the large vestibular aqueduct. Vascular malformations and variations also are presented, including the absent and aberrant internal carotid artery, the persistent stapedial artery, and high jugular bulb; cerebrospinal fluid and perilymph fistulas are the subjects of the final section.

Stillbirth and congenital anomalies in migrants in Europe

DEFF Research Database (Denmark)

Andersen, Anne-Marie Nybo; Gundlund, Anna; Villadsen, Sarah Fredsted

2016-01-01

The risk of giving birth to a stillborn child or a child with severe congenital anomaly is higher for women who have immigrated to Europe as compared to the majority population in the receiving country. The literature, however, reveals great differences between migrant groups, even within migrants...... disparity is a result of the socioeconomic disadvantage most migrants face. Consanguinity has been considered as another cause for the increased stillbirth risk and the high risk of congenital anomaly observed in many migrant groups. Utilization and quality of care during pregnancy and childbirth...

Impact of pre-pregnancy diabetes mellitus on congenital anomalies, Canada, 2002–2012

Directory of Open Access Journals (Sweden)

S. Liu

2015-07-01

Full Text Available Objective: To examine the impact of pre-pregnancy diabetes mellitus (DM on the population birth prevalence of congenital anomalies in Canada. Methods: We carried out a population-based study of all women who delivered in Canadian hospitals (except those in the province of Quebec between April 2002 and March 2013 and their live-born infants with a birth weight of 500 grams or more and/or a gestational age of 22 weeks or more. Pre-pregnancy type 1 or type 2 DM was identified using ICD-10 diagnostic codes. The association between DM and all congenital anomalies as well as specific congenital anomaly categories was estimated using adjusted odds ratios; the impact was calculated as a population attributable risk percent (PAR%. Results: There were 118 892 infants with a congenital anomaly among 2 839 680 live births (41.9 per 1000. While the prevalence of any congenital anomaly declined from 50.7 per 1000 live births in 2002/03 to 41.5 per 1000 in 2012/13, the corresponding PAR% for a congenital anomaly related to pre-pregnancy DM rose from 0.6% (95% confidence interval [CI]: 0.4–0.8 to 1.2% (95% CI: 0.9–1.4. Specifically, the PAR% for congenital cardiovascular defects increased from 2.3% (95% CI: 1.7–2.9 to 4.2% (95% CI: 3.5–4.9 and for gastrointestinal defects from 0.8% (95% CI: 0.2–1.9 to 1.4% (95% CI: 0.7–2.6 over the study period. Conclusion: Although there has been a relative decline in the prevalence of congenital anomalies in Canada, the proportion of congenital anomalies due to maternal prepregnancy DM has increased. Enhancement of preconception care initiatives for women with DM is recommended.

Impact of pre-pregnancy diabetes mellitus on congenital anomalies, Canada, 2002–2012

Science.gov (United States)

Liu, S.; Rouleau, J.; León, J. A.; Sauve, R.; Joseph, K. S.; Ray, J. G.; System, Canadian Perinatal Surveillance

2015-01-01

Abstract Objective: To examine the impact of pre-pregnancy diabetes mellitus (DM) on the population birth prevalence of congenital anomalies in Canada. Methods: We carried out a population-based study of all women who delivered in Canadian hospitals (except those in the province of Quebec) between April 2002 and March 2013 and their live-born infants with a birth weight of 500 grams or more and/or a gestational age of 22 weeks or more. Pre-pregnancy type 1 or type 2 DM was identified using ICD-10 diagnostic codes. The association between DM and all congenital anomalies as well as specific congenital anomaly categories was estimated using adjusted odds ratios; the impact was calculated as a population attributable risk percent (PAR%). Results: There were 118 892 infants with a congenital anomaly among 2 839 680 live births (41.9 per 1000). While the prevalence of any congenital anomaly declined from 50.7 per 1000 live births in 2002/03 to 41.5 per 1000 in 2012/13, the corresponding PAR% for a congenital anomaly related to pre-pregnancy DM rose from 0.6% (95% confidence interval [CI]: 0.4–0.8) to 1.2% (95% CI: 0.9–1.4). Specifically, the PAR% for congenital cardiovascular defects increased from 2.3% (95% CI: 1.7–2.9) to 4.2% (95% CI: 3.5–4.9) and for gastrointestinal defects from 0.8% (95% CI: 0.2–1.9) to 1.4% (95% CI: 0.7–2.6) over the study period. Conclusion: Although there has been a relative decline in the prevalence of congenital anomalies in Canada, the proportion of congenital anomalies due to maternal pre-pregnancy DM has increased. Enhancement of preconception care initiatives for women with DM is recommended. PMID:26186019

What Are Congenital Heart Defects?

Science.gov (United States)

... a baby with a congenital heart defect. Family history and genetics Congenital heart disease is not usually passed along ... you or your child to a specialist in genetic testing. Cardiac MRI to diagnose a ... Factors to review family history, smoking, and medicines that increase your risk of ...

Experience of diagnosis of congenital arterial anomaly in a child with bronchial obstruction: clinical case and summary

Directory of Open Access Journals (Sweden)

L.V. Besh

2017-08-01

Full Text Available Congenital anomalies of the aortic arch are a large group of cardiovascular anomalies. Some of them are isolated; others are associated with congenital heart defects or genetic syndromes. There can be different clinical manifestations of these anomalies — from silent forms (accidentally discovered in the examination to a critical circulatory disturbance, requiring surgical intervention in the first hours after the birth of the baby. The article describes clinical search of double aortic arch in a child and successful surgical treatment of this anomaly. This congenital defect of the aorta usually causes the greatest compression of airways compared to other vascular abnormalities. Double aortic arch develops due to absence of involution of distal IV right aortic arch. As a result, two IV arches keep on developing and join together in the left-sided descending thoracic aorta, thus surrounding the trachea and esophagus. Smaller of the two arches is often subjected to atresia, but it is still connected to the descending aorta, creating a complete vascular ring. As a double aortic arch pressures on the trachea and esophagus, it can cause airway obstruction and dysphagia in a patient. Therapeutic tactic depends on the intensity of symptoms, presence of concomitant anomalies or diseases, and many additional factors, which are analyzed and considered within the council of physicians of different specialties.

MR imaging of congenital heart diseases in adolescents and adults

Energy Technology Data Exchange (ETDEWEB)

Choe, Yeon Hyeon; Kang, I Seok; Park, Seung Woo; Lee, Heung Jae [Sungkwunkwan University School of Medicine, Seoul (Korea, Republic of)

2001-09-01

Echocardiography and catheterization angiography suffer certain limitations in the evaluation of congenital heart diseases in adults, though these are overcome by MRI, in which a wide field-of view, unlimited multiplanar imaging capability and three-dimensional contrast-enhanced MR angiography techniques are used. In adults, recently introduced fast imaging techniques provide cardiac MR images of sufficient quality and with less artifacts. Ventricular volume, ejection fraction, and vascular flow measurements, including pressure gradients and pulmonary-to-systemic flow ratio, can be calculated or obtained using fast cine MRI, phase-contrast MR flow-velocity mapping, and semiautomatic analysis software. MRI is superior to echocardiography in diagnosing partial anomalous pulmonary venous connection, unroofed coronary sinus, anomalies of the pulmonary arteries, aorta and systemic veins, complex heart diseases, and postsurgical sequelae. Biventricular function is reliably evaluated with cine MRI after repair of tetralogy of Fallot, and Senning's and Mustard's operations. MRI has an important and growing role in the morphologic and functional assessment of congenital heart diseases in adolescents and adults.

Syndromic Hirschsprung's disease and associated congenital heart disease: a systematic review.

Science.gov (United States)

Duess, Johannes W; Puri, Prem

2015-08-01

Hirschsprung's disease (HD) occurs as an isolated phenotype in 70% of infants and is associated with additional congenital anomalies or syndromes in approximately 30% of patients. The cardiac development depends on neural crest cell proliferation and is closely related to the formation of the enteric nervous system. HD associated with congenital heart disease (CHD) has been reported in 5-8% of cases, with septation defects being the most frequently recorded abnormalities. However, the prevalence of HD associated with CHD in infants with syndromic disorders is not well documented. This systematic review was designed to determine the prevalence of CHD in syndromic HD. A systematic review of the literature using the keywords "Hirschsprung's disease", "aganglionosis", "congenital megacolon", "congenital heart disease" and "congenital heart defect" was performed. Resulting publications were reviewed for epidemiology and morbidity. Reference lists were screened for additional relevant studies. A total of fifty-two publications from 1963 to 2014 reported data on infants with HD associated with CHD. The overall reported prevalence of HD associated with CHD in infants without chromosomal disorders was 3%. In infants with syndromic disorders, the overall prevalence of HD associated with CHD ranged from 20 to 80 % (overall prevalence 51%). Septation defects were recorded in 57% (atrial septal defects in 29%, ventricular septal defects in 32%), a patent ductus arteriosus in 39%, vascular abnormalities in 16%, valvular heart defects in 4% and Tetralogy of Fallot in 7%. The prevalence of HD associated with CHD is much higher in infants with chromosomal disorders compared to infants without associated syndromes. A routine echocardiogram should be performed in all infants with syndromic HD to exclude cardiac abnormalities.

Employment after heart transplantation among adults with congenital heart disease.

Science.gov (United States)

Tumin, Dmitry; Chou, Helen; Hayes, Don; Tobias, Joseph D; Galantowicz, Mark; McConnell, Patrick I

2017-12-01

Adults with congenital heart disease may require heart transplantation for end-stage heart failure. Whereas heart transplantation potentially allows adults with congenital heart disease to resume their usual activities, employment outcomes in this population are unknown. Therefore, we investigated the prevalence and predictors of work participation after heart transplantation for congenital heart disease. Retrospective review of a prospective registry. United Network for Organ Sharing registry of transplant recipients in the United States. Adult recipients of first-time heart transplantation with a primary diagnosis of congenital heart disease, performed between 2004 and 2015. None. Employment status reported by transplant centers at required follow-up intervals up to 5 y posttransplant. Among 470 patients included in the analysis (mean follow-up: 5 ± 3 y), 127 (27%) worked after transplant, 69 (15%) died before beginning or returning to work, and 274 (58%) survived until censoring, but did not participate in paid work. Multivariable competing-risks regression analysis examined characteristics associated with posttransplant employment, accounting for mortality as a competing outcome. In descriptive and multivariable analysis, pretransplant work participation was associated with a greater likelihood of posttransplant employment, while the use of Medicaid insurance at the time of transplant was associated with a significantly lower likelihood of working after transplant (subhazard ratio compared to private insurance: 0.55; 95% confidence interval: 0.32, 0.95; P = .032). Employment was rare after heart transplantation for congenital heart disease, and was significantly less common than in the broader population of adults with congenital heart disease. Differences in return to work were primarily related to pretransplant employment and the use of public insurance, rather than clinical characteristics. © 2017 Wiley Periodicals, Inc.

Prevalence of Congenital Anomalies in Iran: A Systematic Review and Meta-analysis

Directory of Open Access Journals (Sweden)

Salman Daliri

2018-05-01

Full Text Available Background: Congenital anomaly is a disturbance in fetal growth and development during pregnancy and is one of the main causes of morbidity and mortality in the first year of life. In addition, this anomaly causes a large waste of heath care resources. We aimed to determine the prevalence and proportion rates of different congenital anomalies in Iran via a systematic review and meta-analysis.Methods: The present study was performed to estimate the prevalence and proportion rates of different anomalies in Iran via a systematic review and meta-analysis. Therefore, all the studies performed in Iran between 2000 and 2016 were evaluated. For this purpose, Medlib, Scopus, Web of Science, PubMed, Cochrane Library, Science Direct, Google Scholar, Irandoc, Magiran, IranMedex, and SID databases were searched by two different expert individuals independently. For the qualification survey of the papers, the Strengthening the Reporting of Observational Studies in Epidemiology checklist was applied. Then, the extracted data were entered into STATA (ver.11.1 and analysed using statistical tests of stability and random effects models in meta-regression, a tool used in meta-analysis. The 95% confidence intervals were calculated by I-square models. Meta regression was introduced to explore the heterogeneities among studies.Results: Overall, 36 papers with a total sample size of 909,961 neonates were analysed. The total prevalence rate for congenital anomalies was 18/1000 live births, 23.2/1000 and 18/1000 for boys and girls, respectively. Moreover, 55.8% of all congenital anomalies pertained to boys. The greatest prevalence and proportion rates of congenital anomalies belonged to musculoskeletal disorders followed by urogenital anomalies (9.3/1000 [34%] and 5.7/1000 [20%], respectively, and the lowest figures belonged to chromosomal and respiratory system anomalies (0.8/1000 [6%] and 0.3/1000 [2%], respectively.Conclusion: According to the findings of this meta

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data

Science.gov (United States)

Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Csáky-Szunyogh, Melinda; de Walle, Hermien E K; Dias, Carlos Matias; Draper, Elizabeth; Gatt, Miriam; Garne, Ester; Haeusler, Martin; Källén, Karin; Latos-Bielenska, Anna; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O’Mahony, Mary; Queisser-Wahrendorf, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Wreyford, Ben; Zymak-Zakutnia, Natalia; Dolk, Helen

2018-01-01

Objective To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. Design, setting and outcome measures EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks’ gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005–2009, and infant mortality (deaths of live births at age congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. Conclusions By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention. PMID:28667189

Genetic Counseling for Congenital Heart Defects

Science.gov (United States)

... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Jan 19,2018 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

Epidemiology of Congenital Anomalies in a Population-based Birth Registry in Taiwan, 2002

Directory of Open Access Journals (Sweden)

Bing-Yu Chen

2009-06-01

Conclusion: The occurrence rates for individual congenital anomalies in Taiwan were reported. Older maternal age was a risk factor for the occurrence of chromosomal and orofacial anomalies. More active prenatal screening and further investigation of causal factors of congenital anomalies are of major importance.

Estimating Global Burden of Disease due to congenital anomaly: an analysis of European data.

Science.gov (United States)

Boyle, Breidge; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Csáky-Szunyogh, Melinda; de Walle, Hermien E K; Dias, Carlos Matias; Draper, Elizabeth; Gatt, Miriam; Garne, Ester; Haeusler, Martin; Källén, Karin; Latos-Bielenska, Anna; McDonnell, Bob; Mullaney, Carmel; Nelen, Vera; Neville, Amanda J; O'Mahony, Mary; Queisser-Wahrendorf, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Ritvanen, Annukka; Rounding, Catherine; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Wreyford, Ben; Zymak-Zakutnia, Natalia; Dolk, Helen

2018-01-01

To validate the estimates of Global Burden of Disease (GBD) due to congenital anomaly for Europe by comparing infant mortality data collected by EUROCAT registries with the WHO Mortality Database, and by assessing the significance of stillbirths and terminations of pregnancy for fetal anomaly (TOPFA) in the interpretation of infant mortality statistics. EUROCAT is a network of congenital anomaly registries collecting data on live births, fetal deaths from 20 weeks' gestation and TOPFA. Data from 29 registries in 19 countries were analysed for 2005-2009, and infant mortality (deaths of live births at age congenital anomaly. In 11 EUROCAT countries, average infant mortality with congenital anomaly was 1.1 per 1000 births, with higher rates where TOPFA is illegal (Malta 3.0, Ireland 2.1). The rate of stillbirths with congenital anomaly was 0.6 per 1000. The average TOPFA prevalence was 4.6 per 1000, nearly three times more prevalent than stillbirths and infant deaths combined. TOPFA also impacted on the prevalence of postneonatal survivors with non-lethal congenital anomaly. By excluding TOPFA and stillbirths from GBD years of life lost (YLL) estimates, GBD underestimates the burden of disease due to congenital anomaly, and thus declining YLL over time may obscure lack of progress in primary, secondary and tertiary prevention. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Adult Congenital Heart Disease: Scope of the Problem.

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Mazor Dray, Efrat; Marelli, Ariane J

2015-11-01

This article reviews the changing epidemiology of congenital heart disease summarizing its impact on the demographics of the congenital heart disease population and the progress made in order to improve outcomes in this patient population. Birth prevalence of congenital heart disease can be modified by many factors. As a result of decreasing mortality and increasing survival in all forms of congenital heart disease, the median age of patients has increased and adults now compose two-thirds of patients with congenital heart disease. Disease burden and resulting health services utilization increase significantly across the lifespan. Bridging the gap between policy and quality of care can be improved by referral to specialized adult congenital heart disease centers and planning delivery of specialized services that are commensurate with population needs, program accreditation criteria and certified training of designated workforce. Copyright © 2015 Elsevier Inc. All rights reserved.

Antenatal diagnosis, prevalence and outcome of major congenital anomalies in Saudi Arabia: A hospital based study

International Nuclear Information System (INIS)

Sallout, Bahauddin I.; Al-Hoshan, Manal S.; Attyyaa, Rehman A.; Al-Suleimat, Abdelmane A.

2008-01-01

The exact antenatal prevalence of congenital anomalies in Saudi society is unknown. Early antenatal diagnosis of congenital anomalies is crucial for early counseling, intervention and possible fetal therapy. The objective of this study was to evaluate the antenatal frequency of major congenital anomalies and malformations patterns in our hospital population and to evaluate the outcome and perinatal mortality rates for major congenital anomalies. This was a prospective study of the antenatal diagnosis of major fetal congenital anomalies conducted in the ultrasound Department of the Women's Specialized Hospital at King Fahd Medical City from for 7762 patients and 5379 babies delivered in our institution. We diagnosed 217 cases of fetal anomalies. The antenatal prevalence of congenital anomalies was 27.96 per 1000. The median maternal age at diagnosis was 27.5 years. Te median gestational age at diagnosis was 31 weeks. Genitourinary and cranial anomalies were the commonest; for 186 patients delivered in our institution, the birth prevalence was 34.57 per 1000 births. The median gestational age at delivery was 38 weeks. The perinatal mortality arte was 34.9% (65/186), including all cases of intrauterine fetal and neonatal deaths. The prevalence of major congenital anomalies in our population appears to be similar to international figures. Major congenital anomalies are a major cause of perinatal mortality. (author)

[Sex differences in congenital heart disease].

Science.gov (United States)

Aubry, P; Demian, H

2016-12-01

Gender influences the clinical presentation and the management of some acquired cardiovascular diseases, such as coronary artery disease, resulting in different outcomes. Differences between women and men are also noticed in congenital heart disease. They are mainly related to the prevalence and severity of some congenital heart defects at birth, and in adulthood to the prognosis, incidence of Eisenmenger syndrome and risks of pregnancy. The role of gender on the risk of operative mortality of congenital heart surgery remains debated. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Acquired heart conditions in adults with congenital heart disease: a growing problem.

Science.gov (United States)

Tutarel, Oktay

2014-09-01

The number of adults with congenital heart disease is increasing due to the great achievements in the field of paediatric cardiology, congenital heart surgery and intensive care medicine over the last decades. Mortality has shifted away from the infant and childhood period towards adulthood. As congenital heart disease patients get older, a high prevalence of cardiovascular risk factors is encountered similar to the general population. Consequently, the contribution of acquired morbidities, especially acquired heart conditions to patient outcome, is becoming increasingly important. Therefore, to continue the success story of the last decades in the treatment of congenital heart disease and to further improve the outcome of these patients, more attention has to be given to the prevention, detection and adequate therapy of acquired heart conditions. The aim of this review is to give an overview about acquired heart conditions that may be encountered in adults with congenital heart disease. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

Successful cardiac transplantation outcomes in patients with adult congenital heart disease.

Science.gov (United States)

Menachem, Jonathan N; Golbus, Jessica R; Molina, Maria; Mazurek, Jeremy A; Hornsby, Nicole; Atluri, Pavan; Fuller, Stephanie; Birati, Edo Y; Kim, Yuli Y; Goldberg, Lee R; Wald, Joyce W

2017-09-01

The purpose of our study is (1) to characterise patients with congenital heart disease undergoing heart transplantation by adult cardiac surgeons in a large academic medical centre and (2) to describe successful outcomes associated with our multidisciplinary approach to the evaluation and treatment of adults with congenital heart disease (ACHD) undergoing orthotopic heart transplantation (OHT). Heart failure is the leading cause of death in patients with ACHD leading to increasing referrals for OHT. The Penn Congenital Transplant Database comprises a cohort of patients with ACHD who underwent OHT between March 2010 and April 2016. We performed a retrospective cohort study of the 20 consecutive patients. Original cardiac diagnoses include single ventricle palliated with Fontan (n=8), dextro-transposition of the great arteries after atrial switch (n=4), tetralogy of Fallot (n=4), pulmonary atresia (n=1), Ebstein anomaly (n=1), unrepaired ventricular septal defect (n=1) and Noonan syndrome with coarctation of the aorta (n=1). Eight patients required pretransplant inotropes and two required pretransplant mechanical support. Nine patients underwent heart-liver transplant and three underwent heart-lung transplant. Three patients required postoperative mechanical circulatory support. Patients were followed for an average of 38 months as of April 2016, with 100% survival at 30 days and 1 year and 94% overall survival (19/20 patients). ACHD-OHT patients require highly specialised, complex and multidisciplinary healthcare. The success of our programme is attributed to using team-based, patient-centred care including our multidisciplinary staff and specialists across programmes and departments. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

FastStats: Birth Defects or Congenital Anomalies

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... this? Submit What's this? Submit Button NCHS Home Birth Defects or Congenital Anomalies Recommend on Facebook Tweet ... 4,825 Infant deaths per 100,000 live births: 121.3 Cause of infant death rank: 1 ...

Corpuscular radiation and congenital anomalies

International Nuclear Information System (INIS)

Sato, Shinji; Yajima, Akira

1983-01-01

Many explorations have been done by our antecessors to find out about the congenital anomalies which might be caused by X-ray or γ-ray and experimental teratological researches have also been done, with some results. However, there have been less systematic studies on corpuscular radiation. Neutron ray is a radioactive ray no electrically-charged equally as photon (X-ray, γ-ray). With an equal dosage of it as photon's, its localized energy is high so that it is different in RBE, OER, etc. In heavy charged particle (proton ray, He ion, Ne ion, π-meson ray), there is the characteristic that the energy increases at around the deepest spot within the range rather than at the point of injection into a system, which is called Bragg peak. The type and energy of this radiation reflected in the uniqueness in energy distribution, in ionization density and in LET makes it the most important radioactive biological parameter. At this paper, we shall review the types of radioactive rays and discuss the congenital anomalies (teratogenecity) including the experimental results obtained by application of our proton ray. (author)

Seasonality of Congenital Anomalies in Europe

NARCIS (Netherlands)

Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bianchi, Fabrizio; Calzolari, Elisa; Draper, Elizabeth; Garne, Ester; Gatt, Miriam; Haeusler, Martin; Khoshnood, Babak; McDonnell, Bob; Nelen, Vera; O'Mahony, Mary; Mullaney, Carmel; Queisser-Luft, Annette; Rankin, Judith; Tucker, David; Verellen-Dumoulin, Christine; de Walle, Hermien; Yevtushok, Lyubov

BackgroundThis study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation to

Seasonality of congenital anomalies in Europe

DEFF Research Database (Denmark)

Luteijn, Johannes Michiel; Dolk, Helen; Addor, Marie-Claude

2014-01-01

BACKGROUND: This study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relatio...

Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies.

Science.gov (United States)

Passias, Peter G; Poorman, Gregory W; Jalai, Cyrus M; Diebo, Bassel G; Vira, Shaleen; Horn, Samantha R; Baker, Joseph F; Shenoy, Kartik; Hasan, Saqib; Buza, John; Bronson, Wesley; Paul, Justin C; Kaye, Ian; Foster, Norah A; Cassilly, Ryan T; Oren, Jonathan H; Moskovich, Ronald; Line, Breton; Oh, Cheongeun; Bess, Shay; LaFage, Virginie; Errico, Thomas J

2017-10-09

Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating

Whole heart cine MR imaging of pulmonary veins in patients with congenital heart disease. Comparison with Spin Echo MR imaging

International Nuclear Information System (INIS)

Mitsui, Hideaki; Saito, Haruo; Ishibashi, Tadashi; Takahashi, Shoki; Zuguchi, Masayuki; Yamada, Shogo

2002-01-01

We evaluated the accuracy of Whole Heart Cine (WHC) magnetic resonance (MR) imaging in the depiction of pulmonary veins (PVs) in patients with congenital heart disease (CHD) compared to that of spin echo (SE) MR imaging. Among our 35 patients, 4 patients had anomalous PV return. Detectability of four PVs on each MR examination images were evaluated. MR imaging is an effective modality for the clarification of PVs, and WHC MR imaging is more useful in delineating PV anomalies than SE MR imaging. (author)

New aspects of anesthetic management in congenital heart disease "common arterial trunk"

Directory of Open Access Journals (Sweden)

Mohsen Ziyaeifard

2014-01-01

Full Text Available Now-a-days truncus arteriosus has been known as "common arterial trunk" (CAT and is an uncommon congenital cardiac defect presenting in about 1-3% congenital heart disease. Environmental and genetic factors effects on incidence of CAT and other conotruncal anomalies. The majority patients with CAT and 22q11 deletion have other anomalies such as hypoplasia or aplasia of the thymus or parathyroid glands and immune deficits (T-cell deficiency, calcium metabolism disorder (hypocalcemia, palatal defects, learning and speech disorder, craniofacial anomalies, and neuropsychological abnormalities. CAT without surgical treatment frequently involves early severe pulmonary arterial hypertension (PAH or early death from heart failure and associated conditions. Therefore, without corrective surgical repair, most CAT patients die in the initial years of life. In numerous centers early surgical repair associated with superior than 80% long-standing survival. Anesthesiologist must be performs comprehensive preoperative evaluation of infants or neonates with this disorder. In CAT patient exactly hemodynamic monitoring and suitable techniques to regulate pulmonary vascular resistance and systemic vascular resistance and cardiac function are more important than the select of a special anesthetic drug. Therefore, anesthetic drugs should be carefully administrated and titrate and under monitoring. Management of CAT after surgical repair depends on the adequacy of treatment, cardiac function, level of PAH, and degree of bleeding. Inotropic support is frequently necessary after the cardiac ischemia associated to the surgical repair. Pulmonary vasodilator drugs were used to PAH treatment.

Sequential segmental classification of feline congenital heart disease.

Science.gov (United States)

Scansen, Brian A; Schneider, Matthias; Bonagura, John D

2015-12-01

Feline congenital heart disease is less commonly encountered in veterinary medicine than acquired feline heart diseases such as cardiomyopathy. Understanding the wide spectrum of congenital cardiovascular disease demands a familiarity with a variety of lesions, occurring both in isolation and in combination, along with an appreciation of complex nomenclature and variable classification schemes. This review begins with an overview of congenital heart disease in the cat, including proposed etiologies and prevalence, examination approaches, and principles of therapy. Specific congenital defects are presented and organized by a sequential segmental classification with respect to their morphologic lesions. Highlights of diagnosis, treatment options, and prognosis are offered. It is hoped that this review will provide a framework for approaching congenital heart disease in the cat, and more broadly in other animal species based on the sequential segmental approach, which represents an adaptation of the common methodology used in children and adults with congenital heart disease. Copyright © 2015 Elsevier B.V. All rights reserved.

[Congenital anomalies of poor prognosis. Genetics Consensus Committee].

Science.gov (United States)

Pardo Vargas, Rosa A; Aracena, Mariana; Aravena, Teresa; Cares, Carolina; Cortés, Fanny; Faundes, Víctor; Mellado, Cecilia; Passalacqua, Cristóbal; Sanz, Patricia; Castillo Taucher, Silvia

The Genetic Branch of the Chilean Society of Paediatrics, given the draft Law governing the decriminalisation of abortion on three grounds, focusing on the second ground, which considers the "embryo or foetus suffering from a congenital structural anomaly or a genetic disorder incompatible with life outside the womb", met to discuss the scientific evidence according to which congenital anomalies (CA) may be included in this draft law. Experts in clinical genetics focused on 10 CA, reviewed the literature evidence, and met to discuss it. It was agreed not to use the term "incompatible with life outside the womb", as there are exceptions and longer survivals, and change to "congenital anomaly of poor prognosis (CAPP)". Ten CA were evaluated: serious defects of neural tube closure: anencephaly, iniencephaly and craniorachischisis, pulmonary hypoplasia, acardiac foetus, ectopia cordis, non-mosaic triploidy, "limb body wall" complex, "body stalk" anomaly, trisomy 13, trisomy 18, and bilateral renal agenesis. Findings on the prevalence, natural history, prenatal diagnostic methods, survival, and reported cases of prolonged survival were analysed. Post-natal survival, existence of treatments, and outcomes, as well as natural history without intervention, were taken into account in classifying a CA as a CAPP. A CAPP would be: anencephaly, severe pulmonary hypoplasia, acardiac foetus, cervical ectopia cordis, non-mosaic triploidy, limb body wall complex, body stalk anomaly, non-mosaic trisomy 13, non-mosaic trisomy 18, and bilateral renal agenesis. For their diagnosis, it is required that all pregnant women have access to assessments by foetal anatomy ultrasound and occasionally MRI, and cytogenetic and molecular testing. Copyright © 2016 Sociedad Chilena de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Development and Validation of an Agency for Healthcare Research and Quality Indicator for Mortality After Congenital Heart Surgery Harmonized With Risk Adjustment for Congenital Heart Surgery (RACHS-1) Methodology.

Science.gov (United States)

Jenkins, Kathy J; Koch Kupiec, Jennifer; Owens, Pamela L; Romano, Patrick S; Geppert, Jeffrey J; Gauvreau, Kimberlee

2016-05-20

The National Quality Forum previously approved a quality indicator for mortality after congenital heart surgery developed by the Agency for Healthcare Research and Quality (AHRQ). Several parameters of the validated Risk Adjustment for Congenital Heart Surgery (RACHS-1) method were included, but others differed. As part of the National Quality Forum endorsement maintenance process, developers were asked to harmonize the 2 methodologies. Parameters that were identical between the 2 methods were retained. AHRQ's Healthcare Cost and Utilization Project State Inpatient Databases (SID) 2008 were used to select optimal parameters where differences existed, with a goal to maximize model performance and face validity. Inclusion criteria were not changed and included all discharges for patients model includes procedure risk group, age (0-28 days, 29-90 days, 91-364 days, 1-17 years), low birth weight (500-2499 g), other congenital anomalies (Clinical Classifications Software 217, except for 758.xx), multiple procedures, and transfer-in status. Among 17 945 eligible cases in the SID 2008, the c statistic for model performance was 0.82. In the SID 2013 validation data set, the c statistic was 0.82. Risk-adjusted mortality rates by center ranged from 0.9% to 4.1% (5th-95th percentile). Congenital heart surgery programs can now obtain national benchmarking reports by applying AHRQ Quality Indicator software to hospital administrative data, based on the harmonized RACHS-1 method, with high discrimination and face validity. © 2016 The Authors. Published on behalf of the American Heart Association, Inc., by Wiley Blackwell.

Possibilities of fast track surgery principles in the treatment of congenital urological anomalies

Directory of Open Access Journals (Sweden)

Bižić Marta R.

2012-01-01

Full Text Available Introduction. Urogenital congenital anomalies are among the most common congenital anomalies and very frequent pathology in paediatric urology. Health care systems strive to shorten the duration and reduce the costs of hospitalization, while maintaining treatment effectiveness. Objective. To evaluate the duration of hospital stay of surgically treated patients with congenital urogenital anomalies and estimate the possibility of using fast track surgery principles in paediatric urology in the local settings of a developing country. Methods. Retrospective non-randomized study included 552 patients who had been surgically treated at the Urology Department of the University Children’s Hospital, during 2010. In line with their congenital anomalies, all patients were classified in one of four groups: I - upper urinary tract anomalies (252 patients; II - genital anomalies (164 patients; III - testicular anomalies (76 patients and IV - associated anomalies (60 patients. We analyzed the total duration of stay as well as preand post-operative stay in the hospital. Results. The average duration of hospitalization was 4.7±4.0 days. Patients with testicular anomalies stayed for the shortest period (2.3±1.9 days (p<0.01 and patients with associated anomalies stayed in the hospital the longest (6.5±4.7 days (p<0.01. Conclusion. Modern methods of surgical treatment allow reduction of hospitalization, financial savings to the healthcare system and greater comfort for patients. Our results showed that this is also possible to apply in our environment.

Congenital Duplex Gallbladder Anomaly Presenting as Gangrenous ...

African Journals Online (AJOL)

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A 43 year old female patient, Mrs. M.S, presented with a three week history of .... they develop gangrenous calculus cholecystitis as they may simulate a liver abscess ... Congenital anomalies of the gallbladder and anatomical variations of their ...

Increased arterial stiffness in children with congenital heart disease.

Science.gov (United States)

Häcker, Anna-Luisa; Reiner, Barbara; Oberhoffer, Renate; Hager, Alfred; Ewert, Peter; Müller, Jan

2018-01-01

Objective Central systolic blood pressure (SBP) is a measure of arterial stiffness and strongly associated with atherosclerosis and end-organ damage. It is a stronger predictor of cardiovascular events and all-cause mortality than peripheral SBP. In particular, for children with congenital heart disease, a higher central SBP might impose a greater threat of cardiac damage. The aim of the study was to analyse and compare central SBP in children with congenital heart disease and in healthy counterparts. Patients and methods Central SBP was measured using an oscillometric method in 417 children (38.9% girls, 13.0 ± 3.2 years) with various congenital heart diseases between July 2014 and February 2017. The test results were compared with a recent healthy reference cohort of 1466 children (49.5% girls, 12.9 ± 2.5 years). Results After correction for several covariates in a general linear model, central SBP of children with congenital heart disease was significantly increased (congenital heart disease: 102.1 ± 10.2 vs. healthy reference cohort: 100.4 ± 8.6, p congenital heart disease subgroups revealed higher central SBP in children with left heart obstructions (mean difference: 3.6 mmHg, p congenital heart disease have significantly higher central SBP compared with healthy peers, predisposing them to premature heart failure. Screening and long-term observations of central SBP in children with congenital heart disease seems warranted in order to evaluate the need for treatment.

Infant temperament and parental stress in 3-month-old infants after surgery for complex congenital heart disease.

Science.gov (United States)

Torowicz, Deborah; Irving, Sharon Y; Hanlon, Alexandra L; Sumpter, Danica F; Medoff-Cooper, Barbara

2010-04-01

This study aimed to identify and compare differences in temperament and maternal stress between infants with complex congenital heart disease and healthy controls at 3 months of age. Study sample was drawn from an existing longitudinal study examining growth in infants with congenital heart disease when compared with healthy controls. Infant temperament and parental stress were measured in 129 mother-infant dyads. Inclusion criteria for infants with congenital heart disease were > or = 36-week postmenstrual age, > or = 2500 g at birth, surgery in first 6 weeks of life, and no major congenital anomalies or genetic syndromes. The Early Infancy Temperament Questionnaire and Parent Stress Index were the assessment tools used. Infants with single ventricular (SV) physiology were more negative in mood (F = 7.14, p parenting an irritable infant with SV physiology put these mothers at risk for high levels of stress. Results suggest the need for predischarge anticipatory guidance for parents to better understand and respond to the behavioral style of their infants, in particular, infants with SV physiology.

Trends in the prevalence, risk and pregnancy outcome of multiple births with congenital anomaly

DEFF Research Database (Denmark)

Boyle, B; McConkey, R; Garne, E

2013-01-01

To assess the public health consequences of the rise in multiple births with respect to congenital anomalies.......To assess the public health consequences of the rise in multiple births with respect to congenital anomalies....

Improving Information on Maternal Medication Use by Linking Prescription Data to Congenital Anomaly Registers

DEFF Research Database (Denmark)

de Jonge, Linda; Garne, Ester; Gini, Rosa

2015-01-01

INTRODUCTION: Research on associations between medication use during pregnancy and congenital anomalies is significative for assessing the safe use of a medicine in pregnancy. Congenital anomaly (CA) registries do not have optimal information on medicine exposure, in contrast to prescription...... databases. Linkage of prescription databases to the CA registries is a potentially effective method of obtaining accurate information on medicine use in pregnancies and the risk of congenital anomalies. METHODS: We linked data from primary care and prescription databases to five European Surveillance...... of Congenital Anomalies (EUROCAT) CA registries. The linkage was evaluated by looking at linkage rate, characteristics of linked and non-linked cases, first trimester exposure rates for six groups of medicines according to the prescription data and information on medication use registered in the CA databases...

Pulmonary Hypertension in Congenital Heart Disease: Beyond Eisenmenger Syndrome.

Science.gov (United States)

Krieger, Eric V; Leary, Peter J; Opotowsky, Alexander R

2015-11-01

Patients with adult congenital heart disease have an increased risk of developing pulmonary hypertension. There are several mechanisms of pulmonary hypertension in patients with adult congenital heart disease, and understanding them requires a systematic approach to define the patient's hemodynamics and physiology. This article reviews the updated classification of pulmonary hypertension in patients with adult congenital heart disease with a focus on pathophysiology, diagnostics, and the evaluation of pulmonary hypertension in special adult congenital heart disease populations. Copyright © 2015 Elsevier Inc. All rights reserved.

Feasibility of electron beam tomography in diagnosis of congenital heart disease: comparison with echocardiography

International Nuclear Information System (INIS)

Lee, Jongmin J.; Kang, Duk-Sik

2001-01-01

Objective: To evaluate the feasibility of electron beam tomography (EBT) for morphological assessment of congenital heart disease. Materials and methods: Sixteen subjects were examined by EBT, transthoracic echocardiography, cardiac cine angiography and surgery. EBT scan was performed using single slice continuous volume mode to acquire high-resolution static image. Double dose contrast medium was injected by bolus technique after measuring scan delay time and calculation of proper injection rate. The results of EBT and echocardiography were compared based on the results of cardiac cine angiography and surgical findings. All anomalous components were evaluated in all subjects and grouped according to major cardiac structures. Statistical analysis was performed to compare two modalities' ability to evaluate the anomalies of major structures. Results: EBT was more sensitive to evaluate the anomalies of systemic vessels, pulmonary vessels and small systemic arteries such as coronary artery. EBT was less sensitive to identify the abnormality of cardiac valves such as valvular regurgitation. There was no difference of sensitivity in evaluation of cardiac chambers and septa between the two modalities. Conclusion: EBT assisted by transthoracic echocardiography is excellent noninvasive modality to diagnose congenital heart disease

Changing Landscape of Congenital Heart Disease.

Science.gov (United States)

Bouma, Berto J; Mulder, Barbara J M

2017-03-17

Congenital heart disease is the most frequently occurring congenital disorder affecting ≈0.8% of live births. Thanks to great efforts and technical improvements, including the development of cardiopulmonary bypass in the 1950s, large-scale repair in these patients became possible, with subsequent dramatic reduction in morbidity and mortality. The ongoing search for progress and the growing understanding of the cardiovascular system and its pathophysiology refined all aspects of care for these patients. As a consequence, survival further increased over the past decades, and a new group of patients, those who survived congenital heart disease into adulthood, emerged. However, a large range of complications raised at the horizon as arrhythmias, endocarditis, pulmonary hypertension, and heart failure, and the need for additional treatment became clear. Technical solutions were sought in perfection and creation of new surgical techniques by developing catheter-based interventions, with elimination of open heart surgery and new electronic devices enabling, for example, multisite pacing and implantation of internal cardiac defibrillators to prevent sudden death. Over time, many pharmaceutical studies were conducted, changing clinical treatment slowly toward evidence-based care, although results were often limited by low numbers and clinical heterogeneity. More attention has been given to secondary issues like sports participation, pregnancy, work, and social-related difficulties. The relevance of these issues was already recognized in the 1970s when the need for specialized centers with multidisciplinary teams was proclaimed. Finally, research has become incorporated in care. Results of intervention studies and registries increased the knowledge on epidemiology of adults with congenital heart disease and their complications during life, and at the end, several guidelines became easily accessible, guiding physicians to deliver care appropriately. Over the past decades

The changing epidemiology of congenital heart disease

NARCIS (Netherlands)

van der Bom, Teun; Zomer, A. Carla; Zwinderman, Aeilko H.; Meijboom, Folkert J.; Bouma, Berto J.; Mulder, Barbara J. M.

2011-01-01

Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart

Renal dynamic functional scintigraphy in children with congenital urinary tract anomalies

International Nuclear Information System (INIS)

Cui Ruixue; Zhou Qian

2000-01-01

Objective: To clarify the characteristics of renal scintigraphy in children with various congenital urinary tract anomalies and to evaluate their clinical significance. Methods: 51 children with congenital urinary tract anomalies were studied by 99 Tc m -DTPA renal dynamic functional scintigraphy (RDFS)). Among them, 8 cases were studied by diuretic renography in addition. Results: RDFS provided: 1) Both the morphological information of anomalies and the split renal function. 2) Localization of the site of urinary tract obstruction. In case of pelviureteric junction obstruction, the hydronephrosis was usually severe but with normal size ureter, whereas in ureterovesical junction obstruction the hydronephrosis was less severe but with dilatation of ureter. In case of lower urinary tract obstruction, the hydronephrosis and hydroureter were bilateral. Diuretic renography differentiated obstructive from non-obstructive hydronephrosis. By comparing pre-and post operative studies, it was easy to evaluate the recovery of renal function. Conclusions: RDFS is a valuable modality for giving both anatomical and functional information in children with congenital urinary tract anomalies and the authors suggest it should be used more popularly in Pediatrics

Histone methylations in heart development, congenital and adult heart diseases.

Science.gov (United States)

Zhang, Qing-Jun; Liu, Zhi-Ping

2015-01-01

Heart development comprises myocyte specification, differentiation and cardiac morphogenesis. These processes are regulated by a group of core cardiac transcription factors in a coordinated temporal and spatial manner. Histone methylation is an emerging epigenetic mechanism for regulating gene transcription. Interplay among cardiac transcription factors and histone lysine modifiers plays important role in heart development. Aberrant expression and mutation of the histone lysine modifiers during development and in adult life can cause either embryonic lethality or congenital heart diseases, and influences the response of adult hearts to pathological stresses. In this review, we describe current body of literature on the role of several common histone methylations and their modifying enzymes in heart development, congenital and adult heart diseases.

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.

Science.gov (United States)

Jonker, Jara E; Liem, Eryn T; Elzenga, Nynke J; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M A

2016-12-01

To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies. Copyright © 2016 Elsevier Inc. All rights reserved.

Distribution of congenital anomalies in a neonatal intensive care unit in Turkey.

Science.gov (United States)

Dursun, Arzu; Zenciroglu, Ayşegul; Hakan, Nilay; Karadag, Nilgun; Karagol, Belma Saygili; Aydin, Banu; Dilli, Dilek; Okumus, Nurullah; Beken, Serdar

2014-07-01

Congenital anomalies are one of the important reasons of mortality and morbidity in newborns. The aim of this study is to determine the incidence, distribution and the mortality of the congenital anomalies in a single neonatal intensive care unit (NICU) from Turkey. A retrospective analysis was performed between 2005 and 2012 in NICU using a computerized database. Variables including the type of anomaly, antenatal and postnatal history, gestational age, birth weight, consanguinity and other demographic, clinical and related laboratory variables were extracted from the computerized database using ICD-10 codes. Congenital anomalies were classified according to involved organ systems and also classified as single and multiple anomalies. A total of 1024 newborns with congenital anomaly (CA) (13.7%) were identified among the 7450 hospitalized newborns in NICU. The most affected system was the cardiovascular system (68.8%). Most of the anomalies (67.1%) were single anomalies. Of all, 59.4% had single major, 7.7% had single minor, 9% had single major plus single minor, 18.4% had multiple major and 2% had multiple minor anomalies. On the other hand, 96.3, 1.9, 0.1 and 1.7% of the newborns had malformation, deformation, disruption and dysplasia, respectively. Chromosomal analysis was only performed 24.8% of the newborns with CA and among them, 65.3% of these were in normal limits. The most frequently detected chromosomal abnormality was trisomy 21. Overall, mortality rate was 15.5% among the newborns with CA. In conclusion, the most common and mortal CA was cardio-vascular malformations in our hospital. The overall prevalence of cardio-vascular malformations among the newborn was higher than previously reported studies in Turkey. Further, studies with larger sample size are needed to determine CA in Turkey.

The importance of social media for patients and families affected by congenital anomalies: A Facebook cross-sectional analysis and user survey.

Science.gov (United States)

Jacobs, Robyn; Boyd, Leanne; Brennan, Kirsty; Sinha, C K; Giuliani, Stefano

2016-11-01

We aimed to define characteristics and needs of Facebook users in relation to congenital anomalies. Cross-sectional analysis of Facebook related to four congenital anomalies: anorectal malformation (ARM), congenital diaphragmatic hernia (CDH), congenital heart disease (CHD) and hypospadias/epispadias (HS/ES). A keyword search was performed to identify relevant Groups/Pages. An anonymous survey was posted to obtain quantitative/qualitative data on users and their healthcare needs. 54 Groups and 24 Pages were identified (ARM: 10 Groups; CDH: 9 Groups, 7 Pages; CHD: 32 Groups, 17 Pages; HS/ES: 3 Groups), with 16,191 Group members and 48,766 Page likes. 868/1103 (79%) of respondents were parents. Male:female ratio was 1:10.9. 65% of the users were 26-40years old. Common reasons for joining these Groups/Pages included: seeking support, education, making friends, and providing support to others. 932/1103 (84%) would like healthcare professionals (HCPs) to actively participate in their Group. 31% of the respondents felt that they did not receive enough support from their healthcare system. 97% of the respondents would like to join a Group linked to their primary hospital. Facebook Groups/Pages related to congenital anomalies are highly populated and active. There is a need for HCPs and policy makers to better understand and participate in social media to support families and improve patient care. Copyright © 2016 Elsevier Inc. All rights reserved.

Congenital pouch colon: Increasing association with low anorectal anomalies

Directory of Open Access Journals (Sweden)

Pavai Arunachalam

2009-01-01

Full Text Available Three cases of type IV congenital pouch colon associated with low anorectal anomaly are reported here. Pouch colon may be a cause of intractable constipation in children operated for low anorectal anomaly. Excellent results can be obtained by exicision of the pouch. The radiological and pathological features of this condition are discussed.

Health in adults with congenital heart disease

NARCIS (Netherlands)

Cuypers, Judith A. A. E.; Utens, Elisabeth M. W. J.; Roos-Hesselink, Jolien W.

2016-01-01

Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many

Cardiovascular magnetic resonance in congenital heart disease

International Nuclear Information System (INIS)

Cazacu, A.; Ciubotaru, A.

2010-01-01

The increasing prevalence of congenital heart disease can be attributed to major improvements in diagnosis and treatment. Cardiovascular magnetic resonance imaging plays an important role in the clinical management strategy of patients with congenital heart disease. The development of new cardiovascular magnetic resonance (CMR) techniques allows comprehensive assessment of complex cardiac anatomy and function and provides information about the long-term residual post-operative lesions and complications of surgery. It overcomes many of the limitations of echocardiography and cardiac catheterization. This review evaluates the role of cardiovascular magnetic resonance imaging modality in the management of subject with congenital heart disease (CHD). (authors)

Digital video subtraction fluorography (DVSF) in the diagnosis of bronchial abnormality associated with congenital heart diseases

International Nuclear Information System (INIS)

Sano, Tetsuya; Arisawa, Jun; Nakajima, Toru

1990-01-01

To assess bronchial morphology and abnormality, 14 children with congenital heart diseases including 2 postoperative patients (age, 2 m.-4 yr) were studied by digital video subtraction fluorography (DVSF) using digital subtraction and image processing system (Philips, DVI-2). This newly developed technique clearly defined bronchial anatomy in all 14 patients. Bronchial situs could be determined in all 8 patients with complex heart anomalies. Out of 8 patients with respiratory distress in this study, obvious bronchial stenosis or obstruction was found by DVSF in 5 patients. Thus, DVSF image defined anatomies of main and lobar bronchi more clearly than previous noninvasive methods. Moreover, DVSF is noninvasive and easily performed even for small infants and critically ill patients. In conclusion, DVSF may be a useful technique to assess bronchial morphology and abnormality in patients with congenital heart diseases. (author)

Drug safety in pregnancy - monitoring congenital anomalies

NARCIS (Netherlands)

Morgan, Margery; De Jong-Van Den Berg, Lolkje T. W.; Jordan, Sue

Aim This paper outlines research into the causes of congenital anomalies, and introduces a pan-European study. The potential roles of nurses and midwives in this area are illustrated by a case report. Background Since the thalidomide disaster, use of drugs in pregnancy has been carefully monitored

Xenopus: An Emerging Model for Studying Congenital Heart Disease

Science.gov (United States)

Kaltenbrun, Erin; Tandon, Panna; Amin, Nirav M.; Waldron, Lauren; Showell, Chris; Conlon, Frank L.

2011-01-01

Congenital heart defects affect nearly 1% of all newborns and are a significant cause of infant death. Clinical studies have identified a number of congenital heart syndromes associated with mutations in genes that are involved in the complex process of cardiogenesis. The African clawed frog, Xenopus, has been instrumental in studies of vertebrate heart development and provides a valuable tool to investigate the molecular mechanisms underlying human congenital heart diseases. In this review, we discuss the methodologies that make Xenopus an ideal model system to investigate heart development and disease. We also outline congenital heart conditions linked to cardiac genes that have been well-studied in Xenopus and describe some emerging technologies that will further aid in the study of these complex syndromes. PMID:21538812

DNA methylation abnormalities in congenital heart disease.

Science.gov (United States)

Serra-Juhé, Clara; Cuscó, Ivon; Homs, Aïda; Flores, Raquel; Torán, Núria; Pérez-Jurado, Luis A

2015-01-01

Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.

2013 update on congenital heart disease, clinical cardiology, heart failure, and heart transplant.

Science.gov (United States)

Subirana, M Teresa; Barón-Esquivias, Gonzalo; Manito, Nicolás; Oliver, José M; Ripoll, Tomás; Lambert, Jose Luis; Zunzunegui, José L; Bover, Ramon; García-Pinilla, José Manuel

2014-03-01

This article presents the most relevant developments in 2013 in 3 key areas of cardiology: congenital heart disease, clinical cardiology, and heart failure and transplant. Within the area of congenital heart disease, we reviewed contributions related to sudden death in adult congenital heart disease, the importance of specific echocardiographic parameters in assessing the systemic right ventricle, problems in patients with repaired tetralogy of Fallot and indication for pulmonary valve replacement, and confirmation of the role of specific factors in the selection of candidates for Fontan surgery. The most recent publications in clinical cardiology include a study by a European working group on correct diagnostic work-up in cardiomyopathies, studies on the cost-effectiveness of percutaneous aortic valve implantation, a consensus document on the management of type B aortic dissection, and guidelines on aortic valve and ascending aortic disease. The most noteworthy developments in heart failure and transplantation include new American guidelines on heart failure, therapeutic advances in acute heart failure (serelaxin), the management of comorbidities such as iron deficiency, risk assessment using new biomarkers, and advances in ventricular assist devices. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

Introduction to the Congenital Heart Defects: Anatomy of the Conduction System.

Science.gov (United States)

Moore, Jeremy P; Aboulhosn, Jamil A

2017-06-01

The position and course of the conduction system in congenital heart disease are intricately tied to the underlying congenital malformation. Although only subtle differences exist between the anatomy of the conduction axis for simple congenital heart lesions and normal anatomy, almost every patient with congenital heart disease harbors some important anatomic variation. This article summarizes the body of literature by retaining original classical concepts and by attempting to translate the available knowledge into useful points for the congenital heart disease specialist. This discussion spans the entire spectrum of simple to complex congenital heart disease. Copyright © 2017 Elsevier Inc. All rights reserved.

Extra-cardiac manifestations of adult congenital heart disease.

Science.gov (United States)

Gaeta, Stephen A; Ward, Cary; Krasuski, Richard A

2016-10-01

Advancement in correction or palliation of congenital cardiac lesions has greatly improved the lifespan of congenital heart disease patients, resulting in a rapidly growing adult congenital heart disease (ACHD) population. As this group has increased in number and age, emerging science has highlighted the systemic nature of ACHD. Providers caring for these patients are tasked with long-term management of multiple neurologic, pulmonary, hepatic, renal, and endocrine manifestations that arise as syndromic associations with congenital heart defects or as sequelae of primary structural or hemodynamic abnormalities. In this review, we outline the current understanding and recent research into these extra-cardiac manifestations. Copyright © 2016 Elsevier Inc. All rights reserved.

The Association of H1N1 Pandemic Influenza with Congenital Anomaly Prevalence in Europe

DEFF Research Database (Denmark)

Luteijn, Johannes Michiel; Addor, Marie-Claude; Arriola, Larraitz

2015-01-01

BACKGROUND: In the context of the European Surveillance of Congenital Anomalies (EUROCAT) surveillance response to the 2009 influenza pandemic, we sought to establish whether there was a detectable increase of congenital anomaly prevalence among pregnancies exposed to influenza seasons in general......, and whether any increase was greater during the 2009 pandemic than during other seasons. METHODS: We performed an ecologic time series analysis based on 26,967 pregnancies with nonchromosomal congenital anomaly conceived from January 2007 to March 2011, reported by 15 EUROCAT registries. Analysis...... and tricuspid atresia and stenosis during pandemic influenza season 2009, but not during 2007-2011 influenza seasons. For congenital anomalies, where there was no prior hypothesis, the prevalence of tetralogy of Fallot was strongly reduced during influenza seasons. CONCLUSIONS: Our data do not suggest...

A systematic review of trends and patterns of congenital heart ...

African Journals Online (AJOL)

Background: Congenital heart diseases cause significant childhood morbidity and mortality. Several restricted studies have been conducted on the epidemiology in Nigeria. No truly nationwide data on patterns of congenital heart disease exists. Objectives: To determine the patterns of congenital heart disease in children in ...

Using multidetector-row CT in neonates with complex congenital heart disease to replace diagnostic cardiac catheterization for anatomical investigation: initial experiences in technical and clinical feasibility

International Nuclear Information System (INIS)

Lee, Tain; Tsai, I.C.; Chen, Min-Chi; Fu, Yun-Ching; Jan, Sheng-Lin; Wang, Chung-Chi; Chang, Yen

2006-01-01

Echocardiography is the first-line modality for the investigation of neonatal congenital heart disease. Diagnostic cardiac catheterization, which has a small but recognized risk, is usually performed if echocardiography fails to provide a confident evaluation of the lesions. To verify the technical and clinical feasibilities of replacing diagnostic cardiac catheterization with multidetector-row CT (MDCT) in neonatal complex congenital heart disease. Over a 1-year period we prospectively enrolled all neonates with complex congenital heart disease referred for diagnostic cardiac catheterization after initial assessment by echocardiography. MDCT was performed using a 40-detector-row CT scanner with dual syringe injection. A multidisciplinary congenital heart disease team evaluated the MDCT images and decided if further diagnostic cardiac catheterization was necessary. The accuracy of MDCT in detecting separate cardiovascular anomalies and bolus geometry of contrast enhancement were calculated. A total of 14 neonates were included in the study. No further diagnostic cardiac catheterization was needed in any neonate. The accuracy of MDCT in diagnosing separate cardiovascular anomalies was 98% (53/54) with only one atrial septal defect missed in a patient with coarctation syndrome. The average cardiovascular enhancement in evaluated chambers was 471 HU. No obvious beam-hardening artefact was observed. The technical and clinical feasibility of MDCT in complex congenital heart disease in neonates is confirmed. After initial assessment with echocardiography, MDCT could probably replace diagnostic cardiac catheterization for further anatomical clarification in neonates. (orig.)

Anticoagulation in adults with congenital heart disease

DEFF Research Database (Denmark)

Jensen, A S; Idorn, L; Nørager, B

2015-01-01

Adults with congenital heart disease are a growing population. One of the major challenges in the care of these patients is to prevent thromboembolic episodes. Despite relative young age and no typical cardiovascular risk factors, this cohort has a high prevalence of thrombotic events....... Furthermore, there is a lack of scientific evidence regarding how to prevent thromboembolic events with anticoagulation in adults with congenital heart disease. The aim of this paper is to review the current literature pertaining to anticoagulation in adults with congenital heart disease and hence enable....... It is difficult to use treatment algorithms from the general adult population with acquired heart disease in this heterogeneous population due to special conditions such as myocardial scarring after previous surgery, atypical atrial flutter, prothrombotic conditions and the presence of interatrial shunts...

Lung scan alterations in congenital heart disease

Energy Technology Data Exchange (ETDEWEB)

Dietrich, R; Sanchez, J; Munoz, A; Lanaro, A E; Pico, A M

1975-04-01

This report analyzes the patterns in 54 lung scannings of 34 patients with altered pulmonary blood flow due to congenital heart disease. The technique and the results are presented. According to the images obtained, the patients are classified in three groups: Group I--normal distribution with more concentration of particles over the right lung and the bases. Group II--normal scannings found in left to right shunts unless there is pulmonary venous hypertension in which case the apex-base relationship was inverted. Group III--patients with right to left shunts of different types presenting various patterns according to severity, associated anomalies and palliative surgery. The hemodynamics created by cardiac defects and surgical procedures explain these alterations. This method is recommended in view of its advantages and accurate results.

Congenital heart defects in molecularly proven Kabuki syndrome patients.

Science.gov (United States)

Digilio, Maria Cristina; Gnazzo, Maria; Lepri, Francesca; Dentici, Maria Lisa; Pisaneschi, Elisa; Baban, Anwar; Passarelli, Chiara; Capolino, Rossella; Angioni, Adriano; Novelli, Antonio; Marino, Bruno; Dallapiccola, Bruno

2017-11-01

The prevalence of congenital heart defects (CHD) in Kabuki syndrome ranges from 28% to 80%. Between January 2012 and December 2015, 28 patients had a molecularly proven diagnosis of Kabuki syndrome. Pathogenic variants in KMT2D (MLL2) were detected in 27 patients, and in KDM6A gene in one. CHD was diagnosed in 19/27 (70%) patients with KMT2D (MLL2) variant, while the single patient with KDM6A change had a normal heart. The anatomic types among patients with CHD included aortic coarctation (4/19 = 21%) alone or associated with an additional CHD, bicuspid aortic valve (4/19 = 21%) alone or associated with an additional CHD, perimembranous subaortic ventricular septal defect (3/19 = 16%), atrial septal defect ostium secundum type (3/19 = 16%), conotruncal heart defects (3/19 = 16%). Additional CHDs diagnosed in single patients included aortic dilatation with mitral anomaly and hypoplastic left heart syndrome. We also reviewed CHDs in patients with a molecular diagnosis of Kabuki syndrome reported in the literature. In conclusion, a CHD is detected in 70% of patients with KMT2D (MLL2) pathogenic variants, most commonly left-sided obstructive lesions, including multiple left-sided obstructions similar to those observed in the spectrum of the Shone complex, and septal defects. Clinical management of Kabuki syndrome should include echocardiogram at the time of diagnosis, with particular attention to left-sided obstructive lesions and mitral anomalies, and annual monitoring for aortic arch dilatation. © 2017 Wiley Periodicals, Inc.

Familial Screening for Left-Sided Congenital Heart Disease: What Is the Evidence? What Is the Cost?

Directory of Open Access Journals (Sweden)

Daniel J. Perry

2017-12-01

Full Text Available Since the American Heart Association’s recommendation for familial screening of adults with congenital heart disease for bicuspid aortic valve, similar recommendations for other left-sided heart defects, such as hypoplastic left heart syndrome (HLHS, have been proposed. However, defining at-risk populations for these heart defects based on genetics is less straightforward due to the wide variability of inheritance patterns and non-genetic influences such as environmental and lifestyle factors. We discuss whether there is sufficient evidence to standardize echocardiographic screening for first-degree relatives of children diagnosed with HLHS. Due to variations in the inclusion of cardiac anomalies linked to HLHS and the identification of asymptomatic individuals with cardiac malformations, published studies are open to interpretation. We conclude that familial aggregation of obstructive left-sided congenital heart lesions in families with history of HLHS is not supported and recommend that additional screening should adopt a more conservative definition of what truly constitutes this heart defect. More thorough consideration is needed before embracing familial screening recommendations of families of patients with HLHS, since this could inflict serious costs on healthcare infrastructure and further burden affected families both emotionally and financially.

Congenital Auricular Malformations: Description of Anomalies and Syndromes.

Science.gov (United States)

Bartel-Friedrich, Sylva

2015-12-01

Half of the malformations in the ear, nose, and throat region affect the ear. Malformations of the external ear (pinna or auricle with external auditory canal [EAC]) are collectively termed microtia. Microtia is a congenital anomaly that ranges in severity from mild structural abnormalities to complete absence of the external ear (anotia). Microtia occurs more frequently in males (∼2 or 3:1), is predominantly unilateral (∼70-90%), and more often involves the right ear (∼60%). The reported prevalence varies geographically from 0.83 to 17.4 per 10,000 births. Microtia may be genetic (with family history, spontaneous mutations) or acquired. Malformations of the external ear can also involve the middle ear and/or inner ear. Microtia may be an isolated birth defect, but associated anomalies or syndromes are described in 20 to 60% of cases, depending on study design. These generally fit within the oculo-auriculo-vertebral spectrum; defects are located most frequently in the facial skeleton, facial soft tissues, heart, and vertebral column, or comprise a syndrome (e.g., Treacher Collins syndrome). Diagnostic investigation of microtia includes clinical examination, audiologic testing, genetic analysis and, especially in higher grade malformations with EAC deformities, computed tomography (CT) or cone-beam CT for the planning of surgery and rehabilitation procedures, including implantation of hearing aids. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Interventional Cardiology for Congenital Heart Disease.

Science.gov (United States)

Kenny, Damien

2018-05-01

Congenital heart interventions are now replacing surgical palliation and correction in an evolving number of congenital heart defects. Right ventricular outflow tract and ductus arteriosus stenting have demonstrated favorable outcomes compared to surgical systemic to pulmonary artery shunting, and it is likely surgical pulmonary valve replacement will become an uncommon procedure within the next decade, mirroring current practices in the treatment of atrial septal defects. Challenges remain, including the lack of device design focused on smaller infants and the inevitable consequences of somatic growth. Increasing parental and physician expectancy has inevitably lead to higher risk interventions on smaller infants and appreciation of the consequences of these interventions on departmental outcome data needs to be considered. Registry data evaluating congenital heart interventions remain less robust than surgical registries, leading to a lack of insight into the longer-term consequences of our interventions. Increasing collaboration with surgical colleagues has not been met with necessary development of dedicated equipment for hybrid interventions aimed at minimizing the longer-term consequences of scar to the heart. Therefore, great challenges remain to ensure children and adults with congenital heart disease continue to benefit from an exponential growth in minimally invasive interventions and technology. This can only be achieved through a concerted collaborative approach from physicians, industry, academia and regulatory bodies supporting great innovators to continue the philosophy of thinking beyond the limits that has been the foundation of our specialty for the past 50 years. Copyright © 2018. The Korean Society of Cardiology.

The genetics of congenital heart disease… understanding and improving long-term outcomes in congenital heart disease: a review for the general cardiologist and primary care physician.

Science.gov (United States)

Simmons, M Abigail; Brueckner, Martina

2017-10-01

This review has two purposes: to provide an updated review of the genetic causes of congenital heart disease (CHD) and the clinical implications of these genetic mutations, and to provide a clinical algorithm for clinicians considering a genetics evaluation of a CHD patient. A large portion of congenital heart disease is thought to have a significant genetic contribution, and at this time a genetic cause can be identified in approximately 35% of patients. Through the advances made possible by next generation sequencing, many of the comorbidities that are frequently seen in patients with genetic congenital heart disease patients can be attributed to the genetic mutation that caused the congenital heart disease. These comorbidities are both cardiac and noncardiac and include: neurodevelopmental disability, pulmonary disease, heart failure, renal dysfunction, arrhythmia and an increased risk of malignancy. Identification of the genetic cause of congenital heart disease helps reduce patient morbidity and mortality by improving preventive and early intervention therapies to address these comorbidities. Through an understanding of the clinical implications of the genetic underpinning of congenital heart disease, clinicians can provide care tailored to an individual patient and continue to improve the outcomes of congenital heart disease patients.

Congenital heart disease and chromossomopathies detected by the karyotype

Directory of Open Access Journals (Sweden)

Patrícia Trevisan

2014-06-01

Full Text Available OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype.DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on.DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome. These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky.CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype.

Congenital heart disease and chromossomopathies detected by the karyotype

Science.gov (United States)

Trevisan, Patrícia; Rosa, Rafael Fabiano M.; Koshiyama, Dayane Bohn; Zen, Tatiana Diehl; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo G.

2014-01-01

OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on. DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of lesions. Several researchers have evaluated the presence of chromosomal abnormalities detected by the karyotype in patients with congenital heart disease. However, most of the articles were retrospective studies developed in Europe and only some of the studied patients had a karyotype exam. In this review, only one study was conducted in Latin America, in Brazil. It is known that chromosomal abnormalities are frequent, being present in about one in every ten patients with congenital heart disease. Among the karyotype alterations in these patients, the most important is the trisomy 21 (Down syndrome). These patients often have associated extra-cardiac malformations, with a higher risk of morbidity and mortality, which makes heart surgery even more risky. CONCLUSIONS: Despite all the progress made in recent decades in the field of cytogenetic, the karyotype remains an essential tool in order to evaluate patients with congenital heart disease. The detailed dysmorphological physical examination is of great importance to indicate the need of a karyotype. PMID:25119760

Congenital spine anomalies: the closed spinal dysraphisms

Energy Technology Data Exchange (ETDEWEB)

Schwartz, Erin Simon [University of Pennsylvania, Department of Radiology, The Children' s Hospital of Philadelphia, Perelman School of Medicine, Philadelphia, PA (United States); Rossi, Andrea [G. Gaslini Children' s Hospital, Department of Radiology, Genoa (Italy)

2015-09-15

The term congenital spinal anomalies encompasses a wide variety of dysmorphology that occurs during early development. Familiarity with current terminology and a practical, clinico-radiologic classification system allows the radiologist to have a more complete understanding of malformations of the spine and improves accuracy of diagnosis when these entities are encountered in practice. (orig.)

Novel de novo pathogenic variant in the NR2F2 gene in a boy with congenital heart defect and dysmorphic features.

Science.gov (United States)

Upadia, Jariya; Gonzales, Patrick R; Robin, Nathaniel H

2018-04-16

The NR2F2 gene plays an important role in angiogenesis and heart development. Moreover, this gene is involved in organogenesis in many other organs in mouse models. Variants in this gene have been reported in a number of patients with nonsyndromic atrioventricular septal defect, and in one patient with congenital heart defect and dysmorphic features. Here we report an 11-month-old Caucasian male with global developmental delay, dysmorphic features, coarctation of the aorta, and ventricular septal defect. He was later found to have a pathogenic mutation in the NR2F2 gene by whole exome sequencing. This is the second instance in which an NR2F2 mutation has been identified in a child with a congenital heart defect and other anomalies. This case suggests that some variants in NR2F2 may cause syndromic forms of congenital heart defect. © 2018 Wiley Periodicals, Inc.

Burden and impact of congenital syndromes and comorbidities among adults with congenital heart disease.

Science.gov (United States)

Bracher, Isabelle; Padrutt, Maria; Bonassin, Francesca; Santos Lopes, Bruno; Gruner, Christiane; Stämpfli, Simon F; Oxenius, Angela; De Pasquale, Gabriella; Seeliger, Theresa; Lüscher, Thomas F; Attenhofer Jost, Christine; Greutmann, Matthias

2017-08-01

Our aim was to assess the overall burden of congenital syndromes and non-cardiac comorbidities among adults with congenital heart disease and to assess their impact on circumstances of living and outcomes. Within a cohort of 1725 adults with congenital heart defects (65% defects of moderate or great complexity) followed at a single tertiary care center, congenital syndromes and comorbidities were identified by chart review. Their association with arrhythmias, circumstances of living and survival was analyzed. Within the study cohort, 232 patients (13%) had a genetic syndrome, 51% at least one comorbidity and 23% ≥2 comorbidities. Most prevalent comorbidities were systemic arterial hypertension (11%), thyroid dysfunction (9%), psychiatric disorders (9%), neurologic disorders (7%), chronic lung disease (7%), and previous stroke (6%). In contrast to higher congenital heart defect complexity, the presence of comorbidities had no impact on living circumstances but patients with comorbidities were less likely to work full-time. Atrial arrhythmias were more common among patients with moderate/great disease complexity and those with comorbidities but were less common among patients with congenital syndromes (pCongenital syndromes and comorbidities are highly prevalent in adults with congenital heart disease followed at specialist centers and add to the overall complexity of care. The presence of these additional factors has an impact on living circumstances, is associated with arrhythmias and needs to be further explored as prognostic markers. Copyright © 2017 Elsevier B.V. All rights reserved.

Congenital anomalies: Impact of prenatal diagnosis on mode of delivery.

LENUS (Irish Health Repository)

Dempsey, M A

2010-03-01

An important aspect of prenatal diagnosis is the avoidance of emergency caesarean delivery (CD) where the abnormality is considered lethal and the infant will not survive. A consecutive cohort of 211,163 women delivered of infants weighing 500 grams or more in three tertiary referral centers from 01\\/95 to 12\\/04, was analyzed for perinatal death attributed to congenital malformations. In the group that died in the neonatal period, the emergency CD rate was significantly lower where anomaly was detected versus undetected (17.5% versus 31%). Further, in contrast to undiagnosed anomalies, the indication for emergency CD was more often maternal in the diagnosed group (42% versus 19%, p=0.019). When a diagnosis of lethal congenital anomaly has been made in the prenatal period, the reduction in the emergency CD rate by almost half in this study supports a pivotal role for prenatal diagnosis in optimizing maternal care.

Management of tricuspid regurgitation in congenital heart disease: is survival better with valve repair?

Science.gov (United States)

Said, Sameh M; Dearani, Joseph A; Burkhart, Harold M; Connolly, Heidi M; Eidem, Ben; Stensrud, Paul E; Schaff, Hartzell V

2014-01-01

Tricuspid valve (TV) regurgitation in congenital heart disease includes a heterogeneous group of lesions, and few series have documented the outcomes. We reviewed the records of 553 patients with congenital heart disease who had undergone TV surgery for tricuspid regurgitation from January 1993 to December 2010. Patients with Ebstein malformation were excluded. Their mean age was 32 ± 21 years, and 300 were female (54%). The most common diagnoses were conotruncal anomaly in 216 patients (39%), previous ventricular septal defect closure in 83 (15%), atrioventricular septal defect in 77 (14%), and pulmonary atresia with an intact ventricular septum in 11 (2%). Preoperative right-sided heart failure was present in 124 patients (22%), and 55 patients (10%) had pulmonary hypertension. TV repair was performed in 442 (80%) and TV replacement in 111 (20%) patients. Repeat sternotomy was performed in 415 patients (75%). Previous TV repair was present in 44 patients (8%); of these, 17 (38.6%) underwent repeat TV repair. The overall early mortality was 3.1% (17 patients) and was 2.5% for TV repair and 5.4% for TV replacement (P = .001). The mean follow-up period was 4.5 ± 4.1 years (maximum, 18). The overall survival at 1, 5, and 10 years was 97%, 93%, and 85%, respectively. Survival was better for patients with repair than with replacement. TV repair was an independent predictor of better survival (P = .001). Important tricuspid regurgitation can occur with a variety of congenital diagnoses. Early mortality is low and late survival is superior with tricuspid repair than with valve replacement. Surgical treatment of tricuspid regurgitation in congenital heart disease should be performed before the onset of heart failure. Copyright © 2014 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.

Compliance with Adult Congenital Heart Disease Guidelines: Are We Following the Recommendations?

Science.gov (United States)

Gerardin, Jennifer F; Menk, Jeremiah S; Pyles, Lee A; Martin, Cindy M; Lohr, Jamie L

2016-05-01

As the adult congenital heart disease population increases, poor transition from pediatric to adult care can lead to suboptimal quality of care and an increase in individual and institutional costs. In 2008, the American College of Cardiology and American Heart Association updated the adult congenital heart disease practice guidelines and in 2011, the American Heart Association recommended transition guidelines to standardize and encourage appropriate timing of transition to adult cardiac services. The objective of this study was to evaluate if patient age or complexity of congenital heart disease influences pediatric cardiologists' decision to transfer care to adult providers and to evaluate the compliance of different types of cardiology providers with current adult congenital heart disease treatment guidelines. A single-center retrospective review of 991 adult congenital heart disease patients identified by ICD-9 code from 2010 to 2012. Academic and community outpatient cardiology clinics. Nine hundred ninety-one patients who are 18 years and older with congenital heart disease. None. The compliance with health maintenance and transfer of care recommendations in the outpatient setting. For patients seen by pediatric cardiologists, only 20% had transfer of care discussions documented, most often in younger simple patients. Significant differences in compliance with preventative health guidelines were found between cardiology provider types. Even though a significant number of adults with congenital heart disease are lost to appropriate follow-up in their third and fourth decades of life, pediatric cardiologists discussed transfer of care with moderate and complex congenital heart disease patients less frequently. Appropriate transfer of adults with congenital heart disease to an adult congenital cardiologist provides an opportunity to reinforce the importance of regular follow-up in adulthood and may improve outcomes as adult congenital cardiologists followed the

Adult Congenital Heart Disease with Focus on Pregnancy

NARCIS (Netherlands)

T.P.E. Ruys (Titia)

2013-01-01

textabstractThe prevalence of Congenital Heart Disease (CHD) has been described to be 8,2 per 1000 live births in European countries.(1) Congenital heart disease is a collective term for a large number of different diagnoses with different anatomical substrate, complexity and prognosis. The most

Three-dimensional surface reconstruction imaging for evaluation of congenital heart disease from ECG-triggered MR images

International Nuclear Information System (INIS)

Vannier, M.W.; Laschinger, J.; Knapp, R.H.; Gutierrez, F.R.; Gronnemeyer, S.A.

1987-01-01

Three-dimensional surface reconstruction images of the heart and great vessels were produced from contiguous sequences of electrocardiographically triggered MR images in 25 patients with congenital heart disease and in three healthy subjects. The imaging data were semiautomatically processed to separate the epicardial and endocardial surfaces and to define the outline of the enclosed blood volumes on a section by section basis. Images were obtained at 5-mm intervals in patients aged 3 months to 30 years with anomalies of the great vessels, tetralogy of Fallot, septal defects, pulmonary atresia, and other congenital heart malformations. The results were used to facilitate the surgical treatment of these patients and were compared with echocardiographic and cineradiographic studies, and with surgical findings or pathologic specimens. These surface reconstruction images were useful for communicating the results of diagnostic examinations to cardiac surgeons, for sizing and location of intracardiac defects, for imaging the pulmonary venous drainage, and for assessing regional and global function

Congenital Anomalies of the Kidney and the Urinary Tract (CAKUT)

Science.gov (United States)

2014-01-01

This article reviews the majority of Congenital Anomalies of the Kidney and Urinary Tract (CAKUT) with emphasis in Pediatric Pathology describing and illustrating lesions as varied as ureteral duplications, ureteropelvic junction obstruction, horseshoe kidney, posterior urethral valve and prune belly syndrome, obstructive renal dysplasia, nonmotile ciliopathies and several syndromes associated with renal malformations (Meckel–Joubert, short rib, Bardet–Biedl, asplenia/polysplenia, hereditary renal adysplasia, Zellweger, trisomies, VACTER-L, Potter, caudal dysplasia, and sirenomelia), as well as ADPK, and ARPK. The purpose of this review is not only to describe the congenital renal anomalies, but also to analyze the more recent therapeutic interventions that may modify the natural history of some of these severe conditions. PMID:25313840

Use of hierarchical models to analyze European trends in congenital anomaly prevalence

DEFF Research Database (Denmark)

Cavadino, Alana; Prieto-Merino, David; Addor, Marie-Claude

2016-01-01

BACKGROUND: Surveillance of congenital anomalies is important to identify potential teratogens. Despite known associations between different anomalies, current surveillance methods examine trends within each subgroup separately. We aimed to evaluate whether hierarchical statistical methods that c...

Evaluation of congenital heart disease by magnetic resonance imaging

International Nuclear Information System (INIS)

Roos, A. de; Roest, A.A.W.

2000-01-01

Magnetic resonance imaging has proven to be useful in the assessment of patients with complex congenital heart disease and in the post-surgical follow-up of patients with corrected congenital heart disease. A thorough understanding of the congenital cardiac malformations that can be encountered is needed and the use of the sequential segmental analysis helps to standardize the evaluation and diagnosis of (complex) congenital heart disease. After surgical correction of congenital heart defects, patients must be followed over extended periods of time, because morphological and functional abnormalities may still be present or may develop. The use of echocardiography may be hampered in these patients as scar tissue and thorax deformities limit the acoustic window. Magnetic resonance imaging has proven to be advantageous in the follow-up of these post-surgical patients and with the use of several different techniques the morphological as well as functional abnormalities can be evaluated and followed over time. (orig.)

Congenital anomalies in children exposed to antithyroid drugs in-utero: a meta-analysis of cohort studies.

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Huixia Li

Full Text Available Hyperthyroidism affects about 0.2%-2.7% of all pregnancies, and is commonly managed with antithyroid drugs (ATDs. However, previous studies about the effects of ATDs on congenital anomalies are controversial. Therefore, the present meta-analysis was performed to explore the risk of congenital anomalies in children exposed to ATDs in-utero.Embase, Pubmed, Web of Knowledge, and BIOSIS Citation Index were searched to find out studies about congenital anomalies in children exposed to ATDs in-utero reported up to May 2014. The references cited by the retrieved articles were also searched. The relative risks (RRs and confidence intervals (CIs for the individual studies were pooled by fixed effects models, and heterogeneity was analyzed by chi-square and I2 tests.Eight studies met the inclusion criteria. Exposure to propylthiouracil (PTU, methimazole/carbimazole (MMI/CMZ, and PTU & MMI/CMZ was investigated in 7, 7 and 2 studies, respectively. The pooled RR was 1.20 (95%CI: 1.02-1.42, 1.64 (95%CI: 1.39-1.92, and 1.83 (95%CI: 1.30-2.56 for congenital anomalies after exposure to PTU, MMI/CMZ, and PTU & MMI/CMZ, respectively.The meta-analysis suggests that exposure to ATDs in-utero increases the risk of congenital anomalies. The use of ATDs in pregnancy should be limited when possible. Further research is needed to delineate the exact teratogenic risk for particular congenital anomaly.

Congenital Anomalies in Children Exposed to Antithyroid Drugs In-Utero: A Meta-Analysis of Cohort Studies

Science.gov (United States)

Luo, Jiayou; Zeng, Rong; Feng, Na; Zhu, Na; Feng, Qi

2015-01-01

Background Hyperthyroidism affects about 0.2%-2.7% of all pregnancies, and is commonly managed with antithyroid drugs (ATDs). However, previous studies about the effects of ATDs on congenital anomalies are controversial. Therefore, the present meta-analysis was performed to explore the risk of congenital anomalies in children exposed to ATDs in-utero. Methods Embase, Pubmed, Web of Knowledge, and BIOSIS Citation Index were searched to find out studies about congenital anomalies in children exposed to ATDs in-utero reported up to May 2014. The references cited by the retrieved articles were also searched. The relative risks (RRs) and confidence intervals (CIs) for the individual studies were pooled by fixed effects models, and heterogeneity was analyzed by chi-square and I 2 tests. Results Eight studies met the inclusion criteria. Exposure to propylthiouracil (PTU), methimazole/carbimazole (MMI/CMZ), and PTU & MMI/CMZ was investigated in 7, 7 and 2 studies, respectively. The pooled RR was 1.20 (95%CI: 1.02-1.42), 1.64 (95%CI: 1.39-1.92), and 1.83 (95%CI: 1.30-2.56) for congenital anomalies after exposure to PTU, MMI/CMZ, and PTU & MMI/CMZ, respectively. Conclusions The meta-analysis suggests that exposure to ATDs in-utero increases the risk of congenital anomalies. The use of ATDs in pregnancy should be limited when possible. Further research is needed to delineate the exact teratogenic risk for particular congenital anomaly. PMID:25974033

Maternal obesity and congenital heart defects: a population-based study123

Science.gov (United States)

Mills, James L; Troendle, James; Conley, Mary R; Carter, Tonia; Druschel, Charlotte M

2010-01-01

Background: Obesity affects almost one-third of pregnant women and causes many complications, including neural tube defects. It is not clear whether the risk of congenital heart defects, the most common malformations, is also increased. Objective: This study was conducted to determine whether obesity is associated with an increased risk of congenital heart defects. Design: A population-based, nested, case-control study was conducted in infants born with congenital heart defects and unaffected controls from the cohort of all births (n = 1,536,828) between 1993 and 2003 in New York State, excluding New York City. The type of congenital heart defect, maternal body mass index (BMI; in kg/m2), and other risk factors were obtained from the Congenital Malformations Registry and vital records. Mothers of 7392 congenital heart defect cases and 56,304 unaffected controls were studied. Results: All obese women (BMI ≥ 30) were significantly more likely than normal-weight women (BMI: 19–24.9) to have children with a congenital heart defect [odds ratio (OR): 1.15; 95% CI: 1.07, 1.23; P heart defects with increasing maternal obesity (P heart syndrome, aortic stenosis, pulmonic stenosis, and tetralogy of Fallot. Conclusions: Obese, but not overweight, women are at significantly increased risk of bearing children with a range of congenital heart defects, and the risk increases with increasing BMI. Weight reduction as a way to reduce risk should be investigated. PMID:20375192

The Study of Congenital Anomalies Resulting in Legal Termination of Pregnancy in Iran

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Saeid Dastgiri

2015-08-01

Full Text Available Background and objectives : Safe pregnancy is among the goals and missions of reproductive health which has an important part in Millennium Development Goals. Unfortunately, bad conditions in reproductive health are the major cause of women mortality in fertility age all over the world especially in developing countries. Congenital anomalies are pregnancy problems that in case of early diagnosis, the anomaly will be done according to list 51. The aim of this study was to determine families’ demographic situations, frequency of congenital anomalies types and the factors of legally termination of pregnancy to suggest solutions in order to reduce anomalies and promote reproductive health. Material and Methods : This is a case-control study carried out for 1 year period from 2010 to 2011 in which 603 pregnant women that were diagnosed/recommended to the Legal Medicine Organization for the termination of pregnancy as having a fetus with some types of birth defect(s. Among them, 201 were categorized as case group (receiving termination permission because their pregnancy was before week 20 and 402 of them were categorized as control group 1 (not receiving termination permission because their pregnancy was after week 20 and 200 women as control group 2 who referred to Alzahra hospital to give childbirth. A questionnaire containing demographic and geographical information was made for all the women in those three groups. Results : The average age of mothers in this study was 27.2 years (15-47 years old. In 100 % of women, at least 1 ultrasound examination was performed and genetic and Amniocentesis tests were conducted in 2.1 % and 3.5 % respectively in order to diagnose anomaly. In total, 33 % of pregnant women with congenital anomalies received pregnancy termination permission. The majority of congenital anomalies were neural tube defects 16.9 %, hydrocephaly 8.6 %, limb deformation 7.7 % and Down syndrome 6.4 %. Mother’s age, the history of

Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

Science.gov (United States)

Izumi, Kosuke; Lippa, Andrew M; Wilkens, Alisha; Feret, Holly A; McDonald-McGinn, Donna M; Zackai, Elaine H

2013-12-01

Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including craniofacial, ocular, dental, and limb anomalies. Although recent findings implicate the major role of GJA1 during cardiac organogenesis, congenital heart defects are infrequently reported in oculodentodigital dysplasia. Here we report on two patients with GJA1 mutations presenting with cardiac malformations and type III syndactyly. Patient 1 presented with pulmonary atresia, an intact septum, right ventricular hypoplasia and tricuspid stenosis. The infant had a small nose, thin columella and bilateral 4-5 syndactyly of the fingers. A de novo c.226C>T (p.Arg76Cys) mutation was identified. Patient 2 presented at 6 months with a ventricular septal defect. The child had hypoplastic alae nasi with a thin columella and bilateral 4-5 syndactyly of the digits. A de novo missense mutation, c.145C>G (p.Gln49Glu) was found. Our two patients underscore the importance of cardiac evaluations as part of the initial workup for patients with findings of oculodentodigital dysplasia. Conversely, those patients with type III syndactyly and congenital heart defect should be screened for GJA1 mutations. © 2013 Wiley Periodicals, Inc.

Temporal bone CT analysis of congenital ear anomalies

International Nuclear Information System (INIS)

Hwang, Jung Won; Moon, Min Joo; Sung, Kyu Bo

1988-01-01

Authors analysed the CT findings of the congenital ear anomalies of twenty-nine patients for 2 years and 3 months. The results were as follows: 1. Most of the patients were under the age of 20 (82.7%) and prevalent in male (72.4%). 2. Clinically, congenital ear anomalies were detected in 20 patients (68.9%), conductive hearing loss in 4, sensorineural hearing loss in 1, and the remained 4 patients were detected incidentally without clinical symptom. 3. In the cases of unilateral involvement of 20 patients, right ear was more common (12/20). Eight of 9 bilateral involvement showed similar degree. 4. The middle ear malformations were found in 22 patients (75.9%) and bilateral in 4 patients. 26 cases of middle ear malformations had been classified by Frey into 4 groups; Group I in 5, Group II in 9, Graoup III in 9 and Group IV in 3. 5. Incidentally found ear anomaly was lateral semicircular canal formed a single cavity with the vestibule in all patients (5 pts.). 6. Inner ear malformations accompanying sensorineural hearing loss were found in 3 patients with bilateral involvement and middle ear malformations were accompanied in 2 patients. The degree of involvement of labyrinth was variable.

Partial duplication of head--a rare congenital anomaly.

Science.gov (United States)

Hemachandran, Manikkapurath; Radotra, Bishan Dass

2004-10-01

Duplication of notochord results in rare congenital anomalies like double headed monsters, with or without trunk/limb duplication, depending upon the extent of notochordal abnormality. Here we describe the morphological abnormalities in a case of partial duplication of cranial structures with fusion of the two. Autopsy findings suggest that the bifurcation of the neural tube took place around 4th to 6th week of gestation. There are only few reports in English literature describing the autopsy findings of such an anomaly, which is termed as Diprosopus triophthalmus in the modern literature.

Adults with Congenital Heart Defects

Science.gov (United States)

... Ebstein's Anomaly l-Transposition of the Great Arteries Patent Ductus Arteriosus (PDA) Pulmonary Valve Stenosis and Regurgitation ... Sodium and Salt 3 Heart Attack Symptoms in Women 4 Warning Signs of a Heart Attack 5 ...

The incidence of apparent congenital urogenital anomalies in North Indian newborns: A study of 20,432 pregnancies

Directory of Open Access Journals (Sweden)

A. Bhat

2016-09-01

Conclusions: The incidence of apparent congenital urogenital anomalies was 3.91%. Infertility treatment, parity >2 and a maternal age >30 years were independently associated with an increased risk of congenital urogenital anomalies.

Angiocardiographic technique of congenital heart disease in children

International Nuclear Information System (INIS)

Zhu Ming; Zhai Hongyuan; Zhong Yumin

2005-01-01

Objective: To evaluate different angiocardiographic techniques of congenital heart disease in children. Methods: 11045 pediatric patients with congenital heart disease were performed angiocardiography using cut film, cine film and digital subtraction angiography (DSA) equipment. Different angiocardiographic techniques were used. Results: The diagnostic accuracy of cut film with conventional AP and lateral views was 80.5%, the diagnostic accuracy of cine film with angulated views was 90.0% and the diagnostic accuracy of DSA using non-ionic contrast medium with angulated views was 96.5%. Conclusion: Dynamic picture angiography with digital subtraction using non-ionic contrast medium under rapid injection is the key for claiming the high quality imaging diagnosis of congenital heart disease in children. (authors)

[Surgery of grown up congenital heart disease. About 540 cases].

Science.gov (United States)

Haddad, A; Bourezak, R; Aouiche, M; Ait Mohand, R; Hamzaoui, A; Bourezak, S E

2015-09-01

With advances in recent decades in the field of congenital heart disease both for imaging in medical therapy, a large number of heart disease is diagnosed before birth. Many of them benefit from surgery and reach adulthood, they do not require further action. Some of them develop later in their lives other problems requiring reoperation in adulthood. This sparked the birth of a subspecialty within the department of congenital heart disease: GUCH Unit "grown up congenital heart disease". In developing countries, little heart are detected in childhood, a minority of them are operated and very few reach adulthood or with minor heart disease or become advanced enough then inoperable. Only part may still take advantage of surgery at this age. The aim of our study is to describe the spectrum and characteristics of congenital heart disease in adulthood in Algiers a center of cardiovascular surgery. A retrospective descriptive study of patients aged 15 and above operated for congenital heart defects between 1995 and 2011. Five hundred and forty patients aged 15 to 76years (29±10 years), including 314 women and 226 men are operated congenital heart defects between 1995 and 2011. The left-right shunts represent two thirds of heart disease, represented mainly (50%) by the atrial septal defect. Barriers to the ejection of the left heart represent one forth of cases with a predominance of subvalvular aortic stenosis. We find the native heart whose survival is considered exceptional in adulthood in the absence of surgery, such as tetralogy of Fallot, aortopulmonary windows wide, double outlet right ventricle and atrioventricular canal that take advantage of always surgery. The results are encouraging with low perioperative mortality (2%). The approach of congenital heart disease in developing countries is different from that of developed countries. Efforts need to be made in early detection and monitoring of congenital heart disease and improve access to surgery centers

Correlation between NFATC1 gene polymorphisms and congenital heart disease in children.

Science.gov (United States)

Li, C-L; Niu, L; Fu, M-Y; Tian, J; Wang, Q-W; An, X-J

2017-08-01

To analyze the links between NFATC1 gene polymorphism and congenital heart disease in children. In the present study, we selected 85 children patients with congenital heart disease who were hospitalized from February 2013 to February 2015 as research subjects (observation group), and 92 healthy subjects as control group. Restriction fragment length polymorphism (RFLP) was used for analysis of NFATC1 gene in samples from each group. The distribution of NFATC1 genotype and allele between the observation group (children with congenital heart disease) and the control group showed no significant difference (p >0.05), but AA, GG genotypes, and allele frequency between pathological samples of children with congenital heart disease and the control group displayed significant difference (p congenital heart disease in observation group also showed a difference, i.e., homozygote (AA, GG) ratio in children with severe congenital heart disease is relatively high. There is a correlation between NFATC1 genes and the incidence of congenital heart disease in children, and a correlation between different genotypes and allele frequency and the incidence of the disease.

Assessment of congenital heart disease (CHD): Is there a role for fetal magnetic resonance imaging (MRI)?

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Manganaro, L. [Department of Radiological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy); Savelli, S. [Department of Radiological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy)], E-mail: sarasavelli@hotmail.it; Di Maurizio, M.; Perrone, A.; Francioso, A.; La Barbera, L.; Totaro, P.; Fierro, F.; Tomei, A.; Coratella, F. [Department of Radiological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy); Giancotti, A. [Department of Gynaecological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy); Ballesio, L. [Department of Radiological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy); Ventriglia, F. [Department of Pediatric Cardiology, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy)

2009-10-15

Purpose: To review our experience with fetal magnetic resonance imaging (MRI) to evaluate congenital heart disease (CHD). Methods: We performed fetal MRI in 32 fetuses with an echocardiographically assessed CHD. Both direct and indirect signs of CHD were investigated. Direct signs considered were: morpho-volumetric abnormalities of the heart; malrotations; ventricular and atrial septal defects; anomalies of the origin, size and course of the great arteries. Indirect signs considered were: difficulty to recognize a 'normal' anatomical structures in the reference projections; increase of the vascular size before a stenosis; hypertrophy of the papillary muscles; cardiomegaly and pericardial effusion. All MRI findings were compared with postnatal or autoptic findings. Results: MRI allowed the CHD to be visualised by direct signs in 17 fetuses, indirect signs in 5 and both direct and indirect signs in 9 fetuses, excluding the prenatal echocardiographic suspect of hypoplastic left heart syndrome in 1 fetus. Postnatal echocardiograms or autoptic findings confirmed a normal heart in 1 fetus and CHD in 31 fetuses including a single cardiac anomaly or syndrome in 19 fetuses, 2 associated cardiac abnormalities in 11 and 3 cardiac anomalies in 1 fetus. However, in 2 fetuses MRI detected a ventricular septal defect successively disclosed by gold standard. Conclusions: MRI is a promising method for further assessment of the cardiovascular pathologies diagnosed by echocardiography, and may be a valuable tool in assessing associated extracardiac anomalies.

Branchial cleft anomaly, congenital heart disease, and biliary atresia: Goldenhar complex or Lambert syndrome?

Science.gov (United States)

Cohen, J; Schanen, N C

2000-01-01

The features of Goldenhar complex have been well-described and classically include branchial arch abnormalities, epibulbar dermoid and vertebral abnormalities. We have identified an infant with these features in association with complex congenital heart disease and intrahepatic biliary atresia. Although Lambert described an autosomal recessive disorder with an association of biliary atresia and branchial arch abnormalities, none of those cases had epibulbar dermoid. Diagnostic considerations in this case include inclusion of biliary atresia as a new feature in the expanding spectrum of the Goldenhar complex, versus Lambert syndrome with epibulbar dermoid.

Angio-CT in congenital heart disease and kidney pathology in children, preliminary report

International Nuclear Information System (INIS)

Biejat, A.; Zielinski, T.; Tarnowska, A.

2004-01-01

Due to recent development in computer tomography technique especially in the field of spiral CT, additional computer programming support for 3D reconstruction and automatic contrast media syringe systems, CT is a useful diagnostic tool in pediatric radiology in patients with congenital heart disease and kidneys pathology. Between July 2001 and June 2003 in our CT department 31 angio CT examinations were performed (19 in congenital heart disease and 12 in patients with kidneys pathology). The most important group consists patients after surgical correction of aortic coarctation (CoA)-13 cases. In the kidney pathology group the most common indication for the CT was arterial hypertension - 7 cases. CT examinations were performed using Toshiba ASTEION single - detector system with modified Rogalla et al. protocols. Regular CT scans were complemented with additional multiplane presentations and 3D and MIP reconstructions of the vessels. Original protocols were modified mostly in reduction of contrast media administration (up to 1ml/kg) and pitch increase to 1.2-1.7. Patients with heart disease in contrary to kidney pathology patients were also diagnosed with invasive procedures. In congenital heart disease group recoarctation was diagnosed in angio CT in 7 cases and in 5 cases in angiography. In remaining group CT confirmed angiography results in 3 cases (complex heart anomaly). In 2 cases of anomalous pulmonary venosus return and double aortic arch angiography confirmed CT results. In 7 cases with arterial hypertension Angio-CT revealed: nephrosclerosis in 1 case and IVC thrombosis in another. In remaining 5 cases CT results were normal. Angio-CT in pediatric patients should be performed with automatic syringes proper contrast media administration and physical parameters (mAs, kV) and can limit the indications for invasive procedures. (author)

Genomic imbalances in syndromic congenital heart disease.

Science.gov (United States)

Molck, Miriam Coelho; Simioni, Milena; Paiva Vieira, Társis; Sgardioli, Ilária Cristina; Paoli Monteiro, Fabíola; Souza, Josiane; Fett-Conte, Agnes Cristina; Félix, Têmis Maria; Lopes Monlléo, Isabella; Gil-da-Silva-Lopes, Vera Lúcia

To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). Clinically significant copy number variations (CNVs ≥300kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993kb duplication in 15q21.1 and 706kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. These data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD. Copyright © 2017 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

[Congenital anomalies of cerebral artery and intracranial aneurysm].

Science.gov (United States)

Nakajima, K; Ito, Z; Hen, R; Uemura, K; Matsuoka, S

1976-02-01

It is well known that congenital anomalies such as polycystic kidney, aortic coarctation, Marfan syndrome, Ehler-Danlos syndrome are apt to be complicated by intracranial aneurysms. In this report we attempt to reveal the relation and incidence between cerebrovascular anomalies and intracranial aneurysms. The etiology of aneurysms has been discussed, too. 12 cases of persistent trigeminl artery, 2 cases of persistent hypoglossal artery and 11 cases of fenestration were obtained from 3841 patients who were angiographically examined in our clinic for 5 years. The incidence is 0.31%, 0.05% and 0.29%, respectively. Persistent trigeminal arteries were complicated by 2 cases of intracranial aneurysms and one case of arterivenous malformations (AVM), persistent hypoglossal arteries were complicated by one case of aneurysm, and fenestrations were complicated by 2 cases of aneurysms and one case of AVM. One case of congenital agenesis of right internal carotid artery was obtained which was complicated by aneurysm of anterior communicating artery. Totally, 8 cases of aneurysms and AVM were obtained from 26 cases of cerebrovascular anomalies (incidence 30.8%). On the other hand, thalamic or caudate hemorrhage revealed the highest incidence of complication of intracranial aneurysms among intracerebral hematomas (10.7%). Compared with the incidence of aneurysms between cerebro vascular anomalies (30.8%) and thalamic or caudate hemorrhage (10.7%), the difference is statistically signigicant (P less than 0.05). The cause of intracranial aneurysm has not yet been clarified. But it is well accepted that the defect of tunica media vasorum is most responsible factor as to the occurrence of intracranial aneurysms. We concluded that the genetic error of cerebral vessels including defect of media caused intracranial aneurysms, and this result was supported from the evidence that cerebrovascular anomalies showed statistically high incidence of complication of intracranial aneurysms.

Congenital Heart Disease and Impacts on Child Development

Directory of Open Access Journals (Sweden)

Mariana Alievi Mari

2016-02-01

Full Text Available Abstract Objective: To evaluate the child development and evaluate a possible association with the commitment by biopsychosocial factors of children with and without congenital heart disease. Methods: Observational study of case-control with three groups: Group 1 - children with congenital heart disease without surgical correction; Group 2 - children with congenital heart disease who underwent surgery; and Group 3 - healthy children. Children were assessed by socio-demographic and clinical questionnaire and the Denver II Screening Test. Results: One hundred and twenty eight children were evaluated, 29 in Group 1, 43 in Group 2 and 56 in Group 3. Of the total, 51.56% are girls and ages ranged from two months to six years (median 24.5 months. Regarding the Denver II, the children with heart disease had more "suspicious" and "suspect/abnormal" ratings and in the group of healthy children 53.6% were considered with "normal" development (P≤0.0001. The biopsychosocial variables that were related to a possible developmental delay were gender (P=0.042, child's age (P=0.001 and income per capita (P=0.019. Conclusion: The results suggest that children with congenital heart disease are likely to have a developmental delay with significant difference between children who have undergone surgery and those awaiting surgery under clinical follow-up.

Dental health and management for children with congenital heart disease.

LENUS (Irish Health Repository)

FitzGerald, Kirsten

2010-01-01

Congenital heart disease (CHD) is one of the most common developmental anomalies. Children with CHD are at increased risk of developing oral disease, and are at increased risk from the systemic effects of oral disease. Recent changes in guidelines related to prophylaxis against infective endocarditis have highlighted the importance of establishing and maintaining oral health for this group of patients. The management of children with CHD can be complex and, unfortunately, many of these children do not receive the care they require. The challenges that these children pose are discussed, and suggestions are made for the appropriate management of these patients and the key role that all those working in primary dental care have to play.

Dental health and management for children with congenital heart disease.

LENUS (Irish Health Repository)

FitzGerald, Kirsten

2012-02-01

Congenital heart disease (CHD) is one of the most common developmental anomalies. Children with CHD are at increased risk of developing oral disease, and are at increased risk from the systemic effects of oral disease. Recent changes in guidelines related to prophylaxis against infective endocarditis have highlighted the importance of establishing and maintaining oral health for this group of patients. The management of children with CHD can be complex and, unfortunately, many of these children do not receive the care they require. The challenges that these children pose are discussed, and suggestions are made for the appropriate management of these patients and the key role that all those working in primary dental care have to play.

Congenital anomalies in black South African liveborn neonates at ...

African Journals Online (AJOL)

hypospadias the commonest urogenital anomalies (Table VI). The incidence of cleft lip/palate was only 0,23 per 1 000. Iivebirths (Table V). The integumentary conditions seen included congenital ichthyosis, epidermolysis bullosa, both disorders of. Mendelian inheritance, an unclassifiable bullous dermatitis and a naevus.

Pattern-based approach to fetal congenital cardiovascular anomalies using the transverse aortic arch view on prenatal cardiac MRI

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Dong, Su-Zhen; Zhu, Ming [Shanghai Jiaotong University School of Medicine, Department of Radiology, Shanghai Children' s Medical Center, Shanghai (China)

2015-05-01

Fetal echocardiography is the imaging modality of choice for prenatal diagnosis of congenital cardiovascular anomalies. However, echocardiography has limitations. Fetal cardiac magnetic resonance imaging (MRI) has the potential to complement US in detecting congenital cardiovascular anomalies. This article draws on our experience; it describes the transverse aortic arch view on fetal cardiac MRI and important clues on an abnormal transverse view at the level of the aortic arch to the diagnosis of fetal congenital cardiovascular anomalies. (orig.)

Pattern-based approach to fetal congenital cardiovascular anomalies using the transverse aortic arch view on prenatal cardiac MRI

International Nuclear Information System (INIS)

Dong, Su-Zhen; Zhu, Ming

2015-01-01

Fetal echocardiography is the imaging modality of choice for prenatal diagnosis of congenital cardiovascular anomalies. However, echocardiography has limitations. Fetal cardiac magnetic resonance imaging (MRI) has the potential to complement US in detecting congenital cardiovascular anomalies. This article draws on our experience; it describes the transverse aortic arch view on fetal cardiac MRI and important clues on an abnormal transverse view at the level of the aortic arch to the diagnosis of fetal congenital cardiovascular anomalies. (orig.)

Impact of parental ages and other characteristics at childbearing on congenital anomalies: Results for the Czech Republic, 2000-2007

Directory of Open Access Journals (Sweden)

Jitka Rychtarikova

2013-01-01

Full Text Available BACKGROUND If the impact of maternal age at childbearing on congenital anomalies is well-known for the occurrence of Down syndrome, less is known concerning its effects on other major anomalies. Information is even scarcer for the possible effects of other maternal characteristics and of age of the father. OBJECTIVE We present new results on the associations between parental ages and other maternal characteristics, on the one hand, and congenital anomalies, on the other hand, using data linkage between three Czech registries on mother, newborn, and malformations, for the period 2000-2007. METHODS As the variables are in categorical format, binary logistic regression is used in order to investigate the relationship between presence/absence of a congenital anomaly, for each of the eleven types of anomalies considered, and the set of predictors. RESULTS This research confirms the impact of a higher age of the mother on Down syndrome and on other chromosomal anomalies. Paternal age is not associated with chromosomal anomalies and, in this Czech population, has a rather slight effect on some of the congenital anomalies examined. Another finding of the present study is the possible role of various other maternal characteristics on congenital malformations. CONCLUSIONS Based on a large data set, this study concludes that both parental ages can be associated with congenital anomalies of the child, and that maternal characteristics other than age have also to be considered. COMMENTS Risk factors can be tentatively proposed if they are based on a plausible and suitably tested explanatory mechanism. Unfortunately, in the majority of individual cases of congenital anomaly, the cause of the condition is still unknown and suspected to be an interaction of multiple environmental and genetic factors.

Outcome of assisted reproduction in women with congenital uterine anomalies: a prospective observational study.

Science.gov (United States)

Prior, M; Richardson, A; Asif, S; Polanski, L; Parris-Larkin, M; Chandler, J; Fogg, L; Jassal, P; Thornton, J G; Raine-Fenning, N J

2018-01-01

To assess the prevalence of congenital uterine anomalies, including arcuate uterus, and their effect on reproductive outcome in subfertile women undergoing assisted reproduction. Consecutive women referred for subfertility between May 2009 and November 2015 who underwent assisted reproduction were included in the study. As part of the initial assessment, each woman underwent three-dimensional transvaginal sonography. Uterine morphology was classified using the modified American Fertility Society (AFS) classification of congenital uterine anomalies proposed by Salim et al. If the external contour of the uterus was uniformly convex or had an indentation of Reproductive outcomes, including live birth, clinical pregnancy and preterm birth, were compared between women with a normal uterus and those with a congenital uterine anomaly. Subgroup analysis by type of uterine morphology and logistic regression analysis adjusted for age, body mass index, levels of anti-Müllerian hormone, antral follicle count and number and day of embryo transfer were performed. A total of 2375 women were included in the study, of whom 1943 (81.8%) had a normal uterus and 432 (18.2%) had a congenital uterine anomaly. The most common anomalies were arcuate (n = 387 (16.3%)) and subseptate (n = 16 (0.7%)) uterus. The rate of live birth was similar between women with a uterine anomaly and those with a normal uterus (35% vs 37%; P = 0.47). The rates of clinical pregnancy, mode of delivery and sex of the newborn were also similar between the two groups. Preterm birth before 37 weeks' gestation was more common in women with uterine anomalies than in controls (22% vs 14%, respectively; P = 0.03). Subgroup analysis by type of anomaly showed no difference in the incidence of live birth and clinical pregnancy for women with an arcuate uterus, but indicated worse pregnancy outcome in women with other major anomalies (P = 0.042 and 0.048, respectively). Congenital uterine anomalies as a whole, when

Magnetic resonance imaging of congenital heart disease

International Nuclear Information System (INIS)

Fletcher, B.D.; Jacobstein, M.D.

1988-01-01

Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity

Lumbar Disc Herniation in a Patient With Congenital Vertebral Body Anomaly: A Case Report

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Atabey, Cem; Topuz, Ali Kivanc; Velioğlu, Murat; Demircan, Mehmet Nusret

2014-01-01

Lumbar disc herniation is characterized with low back and leg pain resulting from the degenerated lumbar disc compressing the spinal nerve root. The etiology of degenerative spine is related to age, smoking, microtrauma, obesity, disorders of familial collagen structure, occupational and sports-related physical activity. However, disc herniations induced by congenital lumbar vertebral anomalies are rarely seen. Vertebral fusion defect is one of the causes of congenital anomalies. The pathogenesis of embryological corpus vertebral fusion anomaly is not fully known. In this paper, a 30-year-old patient who had the complaints of low back and right leg pain after falling from a height is presented. She had right L5-S1 disc herniation that had developed on the basis of S1 vertebra corpus fusion anomaly in Lumbar computed tomography. This case has been discussed in the light of literature based on evaluations of Lumbar Computed Tomography (CT) and Magnetic Resonance Imaging (MRI). This case is unique in that it is the first case with development of lumbar disc herniation associated with S1 vertebral corpus fusion anomaly. Congenital malformations with unusual clinical presentation after trauma should be evaluated through advanced radiological imaging techniques. PMID:25620987

Paper 5: Surveillance of multiple congenital anomalies: implementation of a computer algorithm in European registers for classification of cases

DEFF Research Database (Denmark)

Garne, Ester; Dolk, Helen; Loane, Maria

2011-01-01

Surveillance of multiple congenital anomalies is considered to be more sensitive for the detection of new teratogens than surveillance of all or isolated congenital anomalies. Current literature proposes the manual review of all cases for classification into isolated or multiple congenital anomal...

Incidence of congenital heart disease among neonates in a neonatal unit of a tertiary care hospital

International Nuclear Information System (INIS)

Hussain, S.; Sabir, M.U.

2014-01-01

Objectives: To determine the incidence and pattern of various congenital heart disease in a neonatal unit of a tertiary care hospital. Methods: The prospective study was carried out in the neonatal unit of Combined Military Hospital, Rawalpindi, from September 2008 to August 2011. All 5800 neonates admitted with gestational age of >28 weeks irrespective of birthweight were included in the study. Neonatologist/Paediatrician carried out the neonatal examination during the first 12 hours of life. Neonates suspected of having congenital heart disease were further evaluated by pulse oxymetry, X-ray chest and echocardiography to ascertain final diagnosis and type of lesion. Data was collected on a predesigned proforma containing information regarding gender, mode of delivery, gestational age, weight at birth, family history, and associated malformations. SPSS 16 was used for statistical analysis. Results: Of the 5800 neonates, 87 (1.5%) were found to have congenital heart disease with an incidence of 15/1000. There was a male preponderance. Most common lesion was ventricular septal defect 27(31.3%), followed by atrial septal defect 20 (22.9%), patent ductus arteriosus 13 (14.94%), tetralogy of fallot 06 (6.89%), transposition of great arteries 04 (4.59%), Pulmonary stenosis 05 (5.79%) and 03(3.44%) had atrioventricular canal defects. Conclusion: Congenital heart disease is a common congenital anomaly. Its incidence varies from centre to centre due to different factors like nature of the sample, method of detection and early examination by a neonatologist/paediatrician. In this study a higher incidence is reported because it was carried out in a tertiary care unit, which is a referral hospital and all the neonates admitted in the unit were included in the study. (author)

Imaging diagnosis of congenital heart disease with single coronary artery

International Nuclear Information System (INIS)

Zhu Ming; Li Yuhua; Zhong Yumin; Sun Aimin

2003-01-01

Objective: To report 56 cases of congenital heart disease with congenital single coronary artery and to evaluate the imaging diagnostic techniques. Methods: All 56 patients with congenital single coronary artery underwent angiocardiography. Contrast enhancement magnetic resonance angiography (CE MRA) was performed in 4 cases. 48 cases were confirmed by operation. Results: In these 56 cases, single left coronary artery was found in 44 cases and single right coronary artery was found in 12. Conclusion: Congenital heart disease with congenital single coronary artery is not rare and correct diagnosis is very important for surgery

Congenital heart disease with high origin of coronary artery

International Nuclear Information System (INIS)

Zhu Ming; Li Yuhua; Zhong Yumin

2002-01-01

Objective: To report 6 cases of congenital heart disease with high origin of coronary artery and to evaluate the imaging method for diagnosis of congenital high origin of coronary artery. Methods: Six patients with congenital high origin of coronary artery underwent angiocardiography, echocardiography, and 2 patients also underwent magnetic resonance examination. All 6 cases were confirmed by operation. Results: All 6 cases were congenital high origin of right coronary artery. Angiocardiography made correct diagnosis in all 6 cases; MRI made the correct diagnosis in 1 of the 2 cases; echocardiography made 1 correct diagnosis. Conclusion: Correct diagnosis of congenital high origin of coronary artery was very important for patients with congenital heart disease. Angiocardiography was a very reliable imaging method and MRI can play an important role in preoperative diagnosis of congenital high origin of coronary artery

Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects

NARCIS (Netherlands)

Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.

2016-01-01

Objective To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. Study design We included 129 patients with CARM born between 2004 and 2013, and

Echocardiography in Ebstein's anomaly

NARCIS (Netherlands)

W.J. Gussenhoven (Wilhelmina Johanna)

1984-01-01

textabstractIn this thesis the value of echocardiography is evaluated for the diagnosis of Ebstein's anomaly of the tricuspid valve. This congenital heart defect, first described in 1866 by Wilhelm Ebstein, is characterized by an apical displacement of the septal and inferior tricuspid valve

Congenital anomalies of the spine and spinal cord

International Nuclear Information System (INIS)

Altman, N.R.; McLone, D.G.; Naidich, T.P.; Zimmerman, R.A.; Raybaud, C.A.

1991-01-01

In the spine, the most common congenital lesions presenting to medical attention are the diverse forms of spinal dysraphism and the diverse forms of caudal spinal anomalies. Most commonly, these conditions are discovered at birth or in early childhood. Less commonly, they first present to medical attention in adulthood. Widespread use of magnetic resonance imaging (MRI) is expected to reduce the incidence of delayed diagnosis of the dysraphisms and the other spinal malformations. This paper addresses the most common forms of dysraphism and the most common caudal spinal anomalies. It provides an overview of embryology for orientation and then groups the anomalies in terms of the specific derangements of embryology that are believed to give rise to the anomalies. It is hoped that this approach will provide greater understanding of these lesions and better long-term retention of information about them. A conceptual framework of embryology and pathogenesis may eliminate the need for rote memorization; certainly it is a more satisfying approach intellectually

From diagnosis to birth: parents' experience when expecting a child with congenital anomaly.

Science.gov (United States)

Askelsdóttir, Björk; Conroy, Sherrill; Rempel, Gwen

2008-12-01

Of 350,000 Canadian children born each year, 2% to 3% will have a serious congenital anomaly. Because of recent ultrasound diagnostic improvements and increased frequency of prenatal scans, many anomalies are determined prenatally, with more parents receiving disturbing, unanticipated news of an anomaly. This article highlights the experiences, concerns, and healthcare needs of parents who receive a prenatal diagnosis of congenital anomaly during routine ultrasound and choose to continue with the pregnancy. Examples from parent interviews describing their experience complement the sparse literature dealing with this phenomenon. Parents describe their experience from antenatal diagnosis and preparation for the child's birth and subsequent admission to the neonatal intensive care unit. Attention is paid to how neonatal nurses can positively influence this process by attending to parents' feelings or moods. The conclusion includes recommendations for neonatal nursing care for these vulnerable parents.

Congenital heart defect corrective surgeries

Science.gov (United States)

... make it bigger with a patch made of Gore-tex, a man-made (synthetic) material. Another way ... 434. Bhatt AB, Foster E, Kuehl K, et al; American Heart Association Council on Clinical Cardiology. Congenital ...

Congenital Heart Diseases associated with Identified Syndromes ...

African Journals Online (AJOL)

Recognised syndromes were seen in 69(68%) cases. Down syndrome with 54 children contributed 78.3% of those with known syndromes. Other identified syndromes and associations were Marfan's, Noonan's, Edwards, Prune Belly, Apert, Ellis-van creveld syndrome and congenital rubella syndrome. Congenital heart ...

Cyanotic congenital heart disease

International Nuclear Information System (INIS)

Yeon, Kyung Mo; Yoo, Shi Joon; Han, Man Chung; Hong, Chang Yee; Lee, Yung Kyoon

1979-01-01

Authors analyzed 265 cases of cyanotic congenital heart disease in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between April 1973 and August 1979. The results are as follows; 1. Among 265 cases, 178 patients were male and 87 patients were female. 240 patients were below the age of 20 and none was over 35 year. 2. The incidence of individual lesions are as follows: tetralogy of Fallot-176; double outlet right ventricle-20; pentalogy-12; trilogy-11; corrected transposition of great arteries-10; complete transposition of great arteries-8; pulmonary atresia-7; single ventricle-6; Ebstein's anomaly-5; total anomalous pulmonary venous return-4; tricuspid atresia-3; double outlet left ventricle-1; truncus arteriosus-1; hypoplastic left ventricle-1. 3. Fallot's teralogy, pentalogy and trilogy were characteristic in their simple chest and angiocardiographic manifestations, but in a few cases of tetralogy and pentalogy it was difficult to differentiate them from double outlet right ventricle or pulmonary atresia. 4. In double outlet right ventricle and transposition of great arteries which are the pathologic spectrum resulting from abnormal conal growth, differential points were ventricular and great arterial loop patterns and their connections but it was very difficult to differentiate them from each other by single injection into one ventricle alone. 5. Ebstein's anomaly and total anomalous pulmonary venous return were so characteristic in angiocardiography was done ventriculography alone. 6. In 7 cases with double outlet right ventricle and transposition of great arteries, selective biventriculography was done and more accurate diagnosis could be made, which was quite difficult with one ventriculography alone. In 31 cases, cineangiocardiography was done and it gave more accurate information about the type and degree of pulmonary stenosis and overriding of aorta, the origin of great

Epidemiology of multiple congenital anomalies in Europe: A EUROCAT population-based registry study

DEFF Research Database (Denmark)

Calzolari, Elisa; Barisic, Ingeborg; Loane, Maria

2014-01-01

BACKGROUND: This study describes the prevalence, associated anomalies, and demographic characteristics of cases of multiple congenital anomalies (MCA) in 19 population-based European registries (EUROCAT) covering 959,446 births in 2004 and 2010. METHODS: EUROCAT implemented a computer algorithm f...

Origins and consequences of congenital heart defects affecting the right ventricle.

Science.gov (United States)

Woudstra, Odilia I; Ahuja, Suchit; Bokma, Jouke P; Bouma, Berto J; Mulder, Barbara J M; Christoffels, Vincent M

2017-10-01

Congenital heart disease is a major health issue, accounting for a third of all congenital defects. Improved early surgical management has led to a growing population of adults with congenital heart disease, including patients with defects affecting the right ventricle, which are often classified as severe. Defects affecting the right ventricle often cause right ventricular volume or pressure overload and affected patients are at high risk for complications such as heart failure and sudden death. Recent insights into the developmental mechanisms and distinct developmental origins of the left ventricle, right ventricle, and the outflow tract have shed light on the common features and distinct problems arising in specific defects. Here, we provide a comprehensive overview of the current knowledge on the development into the normal and congenitally malformed right heart and the clinical consequences of several congenital heart defects affecting the right ventricle. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: journals.permissions@oup.com.

MR imaging features of the congenital uterine anomalies

International Nuclear Information System (INIS)

Hamcan, S.; Akgun, V.; Battal, B.; Kocaoglu, M.

2012-01-01

Full text: Introduction: Congenital uterine anomalies are common and usually asymptomatic. The agenesis, malfusion or deficient resorption of the Mullerian canals during embryogenesis may lead to these anomalies. Although ultrasonography (US) is the first step imaging technique in assessment of the uterine pathologies, it can be insufficient in differentiation of them. Magnetic resonance (MR) imaging is an adequate imaging technique in depicting pelvic anatomy and different types of uterine anomalies. Objectives and tasks: In this article, we aimed to present imaging features of the uterine anomalies. Material and methods: Pelvic MR scans of the cases who were referred to our radiology department for suspicious uterine anomaly were evaluated retrospectively. Results: We determined uniconuate uterus (type II), uterus didelphys (type III), bicornuate uterus (type IV), uterine septum (type V) and arcuate uterus (type VI) anomalies according to ASRM (American Society of Reproductive Medicine) classification. Conclusion: In cases with such pathologies leading to obstruction, dysmenorrhea or palpable pelvic mass in the puberty are the main clinical presentations. In cases without obstruction, infertility or multiple abortions can be encountered in reproductive ages. The identification of the subtype of the uterine anomalies is important for the preoperative planning of the management. MR that has multiplanar imaging capability and high soft tissue resolution is a non-invasive and the most important imaging modality for the detection and classification of the uterine anomalies

Spectrum of Congenital Heart Diseases in Eastern Nepal: A tertiary care hospital experience

Directory of Open Access Journals (Sweden)

Prashant Shah

2017-01-01

Full Text Available Background & Objectives: Congenital heart diseases are neglected especially in world’s poorest nations and appear to be ignored and unexplored dimension of health. The exact prevalence and spectrum of congenital heart diseases in Nepal is largely unknown. The aim of this study was to describe the local experience on the magnitude and the pattern of congenital heart disease in order to increase the awareness of the public and health policy makers on its burden in Nepal.Materials & Methods: This is an observational hospital based study carried out in a tertiary care hospital in Eastern Nepal. The duration of this study was from April 2015 to July 2016. The echocardiography reports of all patients clinically suspected of having congenital heart disease were retrieved, and their diagnostic details were extracted. Only patients of day one of life to 14 years of age were included. Congenital heart diseases like bicuspid aortic valve, mitral valve prolapse and various inherited cardiomyopathies were excluded.Results: A total of 330 echocardiograms were performed for clinically suspected congenital heart disease.  The mean age of study population was 22.31±34.08 months with male to female ratio of 1.2:1. 23% of clinically suspected congenital heart disease cases turned out to have normal echocardiography. Acyanotic congenital heart disease was most common (81.5% followed by cyanotic congenital heart disease (14.2% and obstructive congenital heart disease (4.3%. Atrial septal defect was found to be the most common form of acyanotic congenital heart disease (52% which was followed by ventricular septal defect (28.8% and patent ductus arteriosus (14.8%. Tetralogy of Fallot and double outlet right ventricle were the most common form of cyanotic CHD representing 44.4% of all cyanotic patients. Pulmonary stenosis was the most common obstructive congenital heart disease observed in this study population (63.6%. Rarer entities, like d-transposition of great

A de novo 1q22q23.1 Interstitial Microdeletion in a Girl with Intellectual Disability and Multiple Congenital Anomalies Including Congenital Heart Defect.

Science.gov (United States)

Aleksiūnienė, Beata; Preiksaitiene, Egle; Morkūnienė, Aušra; Ambrozaitytė, Laima; Utkus, Algirdas

2018-01-01

Many studies have shown that molecular karyotyping is an effective diagnostic tool in individuals with developmental delay/intellectual disability. We report on a de novo interstitial 1q22q23.1 microdeletion, 1.6 Mb in size, detected in a patient with short stature, microcephaly, hypoplastic corpus callosum, cleft palate, minor facial anomalies, congenital heart defect, camptodactyly of the 4-5th fingers, and intellectual disability. Chromosomal microarray analysis revealed a 1.6-Mb deletion in the 1q22q23.1 region, arr[GRCh37] 1q22q23.1(155630752_157193893)×1. Real-time PCR analysis confirmed its de novo origin. The deleted region encompasses 50 protein-coding genes, including the morbid genes APOA1BP, ARHGEF2, LAMTOR2, LMNA, NTRK1, PRCC, RIT1, SEMA4A, and YY1AP1. Although the unique phenotype observed in our patient can arise from the haploinsufficiency of the dosage-sensitive LMNA gene, the dosage imbalance of other genes implicated in the rearrangement could also contribute to the phenotype. Further studies are required for the delineation of the phenotype associated with this rare chromosomal alteration and elucidation of the critical genes for manifestation of the specific clinical features. © 2018 S. Karger AG, Basel.

Initial validation of a healthcare needs scale for young people with congenital heart disease.

Science.gov (United States)

Chen, Chi-Wen; Ho, Ciao-Lin; Su, Wen-Jen; Wang, Jou-Kou; Chung, Hung-Tao; Lee, Pi-Chang; Lu, Chun-Wei; Hwang, Be-Tau

2018-01-01

To validate the initial psychometric properties of a Healthcare Needs Scale for Youth with Congenital Heart Disease. As the number of patients with congenital heart disease surviving to adulthood increases, the transitional healthcare needs for adolescents and young adults with congenital heart disease require investigation. However, few tools comprehensively identify the healthcare needs of youth with congenital heart disease. A cross-sectional study was employed to examine the psychometric properties of the Healthcare Needs Scale for Youth with Congenital Heart Disease. The sample consisted of 500 patients with congenital heart disease, aged 15-24 years, from paediatric cardiology departments and covered the period from March-August 2015. The patients completed the 25-item Healthcare Needs Scale for Youth with Congenital Heart Disease, the questionnaire on health needs for adolescents and the WHO Quality of Life-BREF. Reliability and construct, concurrent, predictive and known-group validity were examined. The Healthcare Needs Scale for Youth with Congenital Heart Disease includes three dimensions, namely health management, health policy and individual and interpersonal relationships, which consist of 25 items. It demonstrated excellent internal consistency and sound construct, concurrent, predictive and known-group validity. The Healthcare Needs Scale for Youth with Congenital Heart Disease is a psychometrically robust measure of the healthcare needs of youth with congenital heart disease. It has the potential to provide nurses with a means to assess and identify the concerns of youth with congenital heart disease and to help them achieve a successful transition to adult care. © 2017 John Wiley & Sons Ltd.

Pictorial essay: Congenital anomalies of male urethra in children

Science.gov (United States)

Jana, Manisha; Gupta, Arun K; Prasad, Kundum R; Goel, Sandeep; Tambade, Vishal D; Sinha, Upasna

2011-01-01

Congenital anomalies of the male urogenital tract are common. Some lesions like posterior urethral valve or anterior urethral diverticulum tend to present early in infancy and are often easily diagnosed on conventional contrast voiding cystourethrograms. Other conditions like posterior urethral diverticulum or utricle can be relatively asymptomatic and therefore present late in childhood. We present the spectrum of imaging findings of common and uncommon anomalies involving the male urethra. Since the pediatric radiologist is often the first to make the diagnosis, he or she should be well aware of these conditions. PMID:21431032

Pictorial essay: Congenital anomalies of male urethra in children

International Nuclear Information System (INIS)

Jana, Manisha; Gupta, Arun K; Prasad, Kundum R; Goel, Sandeep; Tambade, Vishal D; Sinha, Upasna

2011-01-01

Congenital anomalies of the male urogenital tract are common. Some lesions like posterior urethral valve or anterior urethral diverticulum tend to present early in infancy and are often easily diagnosed on conventional contrast voiding cystourethrograms. Other conditions like posterior urethral diverticulum or utricle can be relatively asymptomatic and therefore present late in childhood. We present the spectrum of imaging findings of common and uncommon anomalies involving the male urethra. Since the pediatric radiologist is often the first to make the diagnosis, he or she should be well aware of these conditions

Pictorial essay: Congenital anomalies of male urethra in children

Directory of Open Access Journals (Sweden)

Manisha Jana

2011-01-01

Full Text Available Congenital anomalies of the male urogenital tract are common. Some lesions like posterior urethral valve or anterior urethral diverticulum tend to present early in infancy and are often easily diagnosed on conventional contrast voiding cystourethrograms. Other conditions like posterior urethral diverticulum or utricle can be relatively asymptomatic and therefore present late in childhood. We present the spectrum of imaging findings of common and uncommon anomalies involving the male urethra. Since the pediatric radiologist is often the first to make the diagnosis, he or she should be well aware of these conditions.

The World Society for Pediatric and Congenital Heart Surgery: its mission and history.

Science.gov (United States)

Tchervenkov, Christo I; Stellin, Giovanni; Kurosawa, Hiromi; Jacobs, Jeffrey P; Mavroudis, Constantine; Bernier, Pierre-Luc; Maruszewski, Bohdan; Kreutzer, Christian; Cicek, Sertac; Kinsley, Robin H; Nunn, Graham R; Jonas, Richard A

2009-01-01

The World Society for Pediatric and Congenital Heart Surgery (WSPCHS) was established in 2006 to assemble pediatric and congenital heart surgeons from all continents and regions of the world and their colleagues from related specialties dealing with pediatric and congenital heart disease. Since its birth, it has held a highly successful inaugural scientific meeting in 2007 in Washington, DC, and a World Summit on Pediatric and Congenital Heart Surgery Services, Education, and Cardiac Care for Children and Adults with Congenital Heart Disease in 2008 in Montreal. It currently has 549 members from 71 countries and in a short period of time has become the largest organization in the world of pediatric and congenital heart surgeons. Its brief history already seems to be a guarantee of a promising future. Projects in the areas of research, training and education, patient care, and community service will allow the Society to reach its goals. By bringing together professionals from every region of the world, the WSPCHS should play a significant role in the improvement of care for children and adults with congenital heart disease around the world.

Exploring risk perception and attitudes to miscarriage and congenital anomaly in rural Western Kenya.

Directory of Open Access Journals (Sweden)

Stephanie Dellicour

Full Text Available Understanding the socio-cultural context and perceptions of adverse pregnancy outcomes is important for informing the best approaches for public health programs. This article describes the perceptions, beliefs and health-seeking behaviours of women from rural western Kenya regarding congenital anomalies and miscarriages.Ten focus group discussions (FGDs were undertaken in a rural district in western Kenya in September 2010. The FGDs included separate groups consisting of adult women of childbearing age, adolescent girls, recently pregnant women, traditional birth attendants and mothers of children with a birth defect. Participants were selected purposively. A deductive thematic framework approach using the questions from the FGD guides was used to analyse the transcripts.There was substantial overlap between perceived causes of miscarriages and congenital anomalies and these were broadly categorized into two groups: biomedical and cultural. The biomedical causes included medications, illnesses, physical and emotional stresses, as well as hereditary causes. Cultural beliefs mostly related to the breaking of a taboo or not following cultural norms. Mothers were often stigmatised and blamed following miscarriage, or the birth of a child with a congenital anomaly. Often, women did not seek care following miscarriage unless there was a complication. Most reported that children with a congenital anomaly were neglected either because of lack of knowledge of where care could be sought or because these children brought shame to the family and were hidden from society.The local explanatory model of miscarriage and congenital anomalies covered many perceived causes within biomedical and cultural beliefs. Some of these fuelled stigmatisation and blame of the mother. Understanding of these beliefs, improving access to information about the possible causes of adverse outcomes, and greater collaboration between traditional healers and healthcare providers may

[Congenital heart disease mortality in Spain during a 10 year period (2003-2012)].

Science.gov (United States)

Pérez-Lescure Picarzo, Javier; Mosquera González, Margarita; Latasa Zamalloa, Pello; Crespo Marcos, David

2018-05-01

Congenital heart disease is a major cause of infant mortality in developed countries. In Spain, there are no publications at national level on mortality due to congenital heart disease. The aim of this study is to analyse mortality in infants with congenital heart disease, lethality of different types of congenital heart disease, and their variation over a ten-year period. A retrospective observational study was performed to evaluate mortality rate of children under one year old with congenital heart disease, using the minimum basic data set, from 2003 to 2012. Mortality rate and relative risk of mortality were estimated by Poisson regression. There were 2,970 (4.58%) infant deaths in a population of 64,831 patients with congenital heart disease, with 73.8% of deaths occurring during first week of life. Infant mortality rate in patients with congenital heart disease was 6.23 per 10,000 live births, and remained constant during the ten-year period of the study, representing 18% of total infant mortality rate in Spain. The congenital heart diseases with highest mortality rates were hypoplastic left heart syndrome (41.4%), interruption of aortic arch (20%), and total anomalous pulmonary drainage (16.8%). Atrial septal defect (1%) and pulmonary stenosis (1.1%) showed the lowest mortality rate. Congenital heart disease was a major cause of infant mortality with no variations during the study period. The proportion of infants who died in our study was similar to other similar countries. In spite of current medical advances, some forms of congenital heart disease show very high mortality rates. Copyright © 2017 Asociación Española de Pediatría. Publicado por Elsevier España, S.L.U. All rights reserved.

Increasing mortality burden among adults with complex congenital heart disease.

Science.gov (United States)

Greutmann, Matthias; Tobler, Daniel; Kovacs, Adrienne H; Greutmann-Yantiri, Mehtap; Haile, Sarah R; Held, Leonhard; Ivanov, Joan; Williams, William G; Oechslin, Erwin N; Silversides, Candice K; Colman, Jack M

2015-01-01

Progress in management of congenital heart disease has shifted mortality largely to adulthood. However, adult survivors with complex congenital heart disease are not cured and remain at risk of premature death as young adults. Thus, our aim was to describe the evolution and mortality risk of adult patient cohorts with complex congenital heart disease. Among 12,644 adults with congenital heart disease followed at a single center from 1980 to 2009, 176 had Eisenmenger syndrome, 76 had unrepaired cyanotic defects, 221 had atrial switch operations for transposition of the great arteries, 158 had congenitally corrected transposition of the great arteries, 227 had Fontan palliation, and 789 had repaired tetralogy of Fallot. We depict the 30-year evolution of these 6 patient cohorts, analyze survival probabilities in adulthood, and predict future number of deaths through 2029. Since 1980, there has been a steady increase in numbers of patients followed, except in cohorts with Eisenmenger syndrome and unrepaired cyanotic defects. Between 1980 and 2009, 308 patients in the study cohorts (19%) died. At the end of 2009, 85% of survivors were younger than 50 years. Survival estimates for all cohorts were markedly lower than for the general population, with important differences between cohorts. Over the upcoming two decades, we predict a substantial increase in numbers of deaths among young adults with subaortic right ventricles, Fontan palliation, and repaired tetralogy of Fallot. Anticipatory action is needed to prepare clinical services for increasing numbers of young adults at risk of dying from complex congenital heart disease. © 2014 The Authors. Congenital Heart Disease Published by Wiley Periodicals, Inc.

Saudi Guidelines on the Diagnosis and Treatment of Pulmonary Hypertension: Pulmonary arterial hypertension associated with congenital heart disease

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Antonio Lopes

2014-01-01

Full Text Available Congenital heart disease (CHD with intracardiac/extracardiac shunts is an important etiology of pulmonary arterial hypertension (PAH. The majority of children with congenital cardiac shunts do not develop advanced pulmonary vasculopathy, as surgical repair of the anomalies is now performed early in life. However, if not repaired early, some defects will inevitably lead to pulmonary vascular disease (truncus arteriosus, transposition of the great arteries associated with a ventricular septal defect (VSD, atrioventricular septal defects remarkably in Down syndrome, large, nonrestrictive VSDs, patent ductus arteriosus and related anomalies. The majority of patients are now assigned to surgery based on noninvasive evaluation only. PAH becomes a concern (requiring advanced diagnostic procedures in about 2-10% of them. In adults with CHD, the prevalence of advanced pulmonary vasculopathy (Eisenmenger syndrome is around 4-12%. [1] This article will discuss the diagnostic and management approach for PAH associated with CHD (PAH-CHD.

Mondini defect in association with multiple congenital anomalies.

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Sekhar, H K; Sachs, M

1976-01-01

A case of bilaterally symmetrical genetic aplasia conforming to Mondini type of congenital deformity in a 12-day-old child is presented with the help of temporal bone sections. Cochlear changes include a stunted modiolus, deficient interscalar septum between the middle and upper coils forming a scala communis cochleae, a degenerated organ of Corti and reduced spiral ganglion cells and dendrites. The vestibule is malformed, with membranous labyrinth being deficient. The utricle and semicircular canals are absent. There is no oval window or stapedial footplate, and the facial nerve is hypoplastic. An interesting feature is the unusual association of bilateral bony choanal atresia, atrial septal defect, cleft lip, absence of olfactory bulbs in the brain, and congenital ophthalmic anomalies.

The incidence of apparent congenital urogenital anomalies in North ...

African Journals Online (AJOL)

A. Bhat

2016-07-18

Jul 18, 2016 ... borns' birth weight and gestational age, the maternal age, parity and infertility treatment, ... has shown birth prevalence of congenital anomalies to vary sig- ... leading cause of fetal death, as well as of childhood and adult mor- ... Neonates ... dent factors predictive of reproductive disorders, with a p value.

Profiles in congenital heart disease

International Nuclear Information System (INIS)

Freed, M.D.; Keane, J.F.

1986-01-01

Pediatric cardiology has made great strides in the diagnosis, management, and correction of complex congenital malformations in the past two decades. The foundation of these advances is a more precise understanding of the physiology and anatomy of complex lesions that has been obtained from cardiac catheterization and angiography. The techniques for catheterization of infants and children have been discussed in another paper. This chapter focuses on brief profiles of some of the more important congenital abnormalities. The incidence cited in the discussion of each abnormality pertains to a population comprises of children and adults referred to The Children's Hospital Medical Center and Peter Bent Brigham Hospital, respectively, for evaluation of congenital heart disease

Spinal fusion in patients with congenital heart disease. Predictors of outcome.

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Coran, D L; Rodgers, W B; Keane, J F; Hall, J E; Emans, J B

1999-07-01

The strong association between congenital heart disease and spinal deformity is well established, but data on the risks and outcome of spinal fusion surgery in patients with congenital heart disease are scarce. The purpose of this study was to identify predictors of perioperative risk and outcome in a large series of children and adolescents with congenital heart disease who underwent spinal fusion for scoliosis or kyphosis. In the authors' retrospective analysis of 74 consecutive patients with congenital heart disease undergoing spinal fusion, there were two deaths (2.7%) and 18 significant complications (24.3%) in the perioperative period. Preoperative cyanosis (arterial oxygen saturation < 90% at rest) with uncorrected or incompletely corrected congenital heart disease was associated with both deaths. Complications occurred in nine of 18 (50%) patients with cyanosis and in 11 of 56 (20%) patients without cyanosis. As judged by multivariate analysis the best predictors of perioperative outcome were the overall physical status of the patient as represented by the American Society of Anesthesiologists' preoperative score and a higher rate of intraoperative blood loss. Seventeen of 43 patients (40%) with an American Society of Anesthesiologists score of 3 or higher experienced complications including two perioperative deaths. Successful spinal fusion and correction were achieved in 97% of patients. Children and adolescents with congenital heart disease can undergo elective spinal fusion with risks that relate to overall cardiac status. Careful assessment of preoperative status by pediatric cardiologists and cardiac anesthesiologists familiar with surgical treatment of patients with congenital heart disease will assist the orthopaedic surgeon in providing the most realistic estimate of risk.

Congenital Heart Defects (For Parents)

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... to be associated with genetic disorders, such as Down syndrome . But the cause of most congenital heart defects isn't known. While they can't be prevented, many treatments are available for the defects and related health ...

Preattentive processing of heart cues and the perception of heart symptoms in congenital heart disease

NARCIS (Netherlands)

Karsdorp, Petra A.; Kindt, Merel; Everaerd, Walter; Mulder, Barbara J. M.

2007-01-01

The present study was aimed at clarifying whether preattentive processing of heart cues results in biased perception of heart sensations in patients with congenital heart disease (ConHD) who are also highly trait anxious. Twenty-six patients with ConHD and 22 healthy participants categorized

Emerging Research Directions in Adult Congenital Heart Disease: A Report from a National Heart, Lung, and Blood Institute/Adult Congenital Heart Association Working Group

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Gurvitz, Michelle; Burns, Kristin M.; Brindis, Ralph; Broberg, Craig S.; Daniels, Curt J.; Fuller, Stephanie M.P.N.; Honein, Margaret A.; Khairy, Paul; Kuehl, Karen S.; Landzberg, Michael J.; Mahle, William T.; Mann, Douglas L.; Marelli, Ariane; Newburger, Jane W.; Pearson, Gail D.; Starling, Randall C.; Tringali, Glenn R.; Valente, Anne Marie; Wu, Joseph C.; Califf, Robert M.

2016-01-01

Congenital heart disease (CHD) is the most common birth defect, affecting about 0.8% of live births. Advances in recent decades have allowed >85% of children with CHD to survive to adulthood, creating a growing population of adults with CHD. Little information exists regarding survival, demographics, late outcomes, and comorbidities in this emerging group, and multiple barriers impede research in adult CHD (ACHD). The National Heart, Lung, and Blood Institute and the Adult Congenital Heart Association convened a multidisciplinary Working Group to identify high-impact research questions in ACHD. This report summarizes the meeting discussions in the broad areas of CHD-related heart failure, vascular disease and multisystem complications. High-priority subtopics identified included heart failure in tetralogy of Fallot, mechanical circulatory support/transplantation, sudden cardiac death, vascular outcomes in coarctation of the aorta, late outcomes in single ventricle disease, cognitive and psychiatric issues, and pregnancy. PMID:27102511

[Neonatal tumours and congenital malformations].

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Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

2008-06-01

The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

Theory of mind deficit in adult patients with congenital heart disease.

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Chiavarino, Claudia; Bianchino, Claudia; Brach-Prever, Silvia; Riggi, Chiara; Palumbo, Luigi; Bara, Bruno G; Bosco, Francesca M

2015-10-01

This article provides the first assessment of theory of mind, that is, the ability to reason about mental states, in adult patients with congenital heart disease. Patients with congenital heart disease and matched healthy controls were administered classical theory of mind tasks and a semi-structured interview which provides a multidimensional evaluation of theory of mind (Theory of Mind Assessment Scale). The patients with congenital heart disease performed worse than the controls on the Theory of Mind Assessment Scale, whereas they did as well as the control group on the classical theory-of-mind tasks. These findings provide the first evidence that adults with congenital heart disease may display specific impairments in theory of mind. © The Author(s) 2013.

Haemodynamic findings on cardiac CT in children with congenital heart disease

International Nuclear Information System (INIS)

Goo, Hyun Woo

2011-01-01

In patients with congenital heart disease, haemodynamic findings demonstrated on cardiac CT might provide useful hints for understanding the haemodynamics of cardiac defects. In contrast to morphological features depicted on cardiac CT, such haemodynamic findings on cardiac CT have not been comprehensively reviewed in patients with congenital heart disease. This article describes normal haemodynamic phenomena of cardiovascular structures and various abnormal haemodynamic findings with their mechanisms and clinical significance on cardiac CT in patients with congenital heart disease. (orig.)

Intrapartum electrocardiogram alteration in fetuses with congenital heart disease: a case-control study.

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Gay, Estelle; Bornallet, Géraldine; Gaucherand, Pascal; Doret, Muriel

2015-11-01

To assess if the fetal electrocardiogram especially ST segment is modified by congenital heart diseases: modifications in frequencies of the different ST events and modifications in signal quality. A retrospective case-control study, comparing frequencies of the different ST events and the quality of the signal between fetuses with congenital heart diseases and fetuses without congenital heart disease. From 2000 to 2011, fifty-eight fetuses with congenital heart disease had their heart rate recording using a STAN device during labor. Control group was fetuses who were born just before a case and had a STAN as a second line for intrapartum surveillance. Cases and controls were matched on parity, gestational age at birth, presence of growth restriction and umbilical artery pH. Frequencies of the different ST event and quality of the signal were first analyzed for the global labor recording, and then separately for the first and the second phase of labor. No statistically significant difference in ST event frequencies between fetuses with congenital heart disease and the control group was found. Regarding the quality of the signal, 11.49% (±18.82) of recording time is a signal loss for fetus with congenital heart disease whereas only 5.18% (±10.67) for the control group (p=0.028). This is the first study investigating for intrapartum electrocardiogram modification in fetus with congenital heart disease. Congenital heart diseases do not modify frequencies of ST events. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

Comparison of foetal US and MRI in the characterisation of congenital lung anomalies

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Alamo, Leonor, E-mail: leonor.alamo@chuv.ch [Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Reinberg, Olivier, E-mail: Olivier.reinberg@chuv.ch [Department of Pediatric Surgery, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Vial, Yvan, E-mail: Yvan.vial@chuv.ch [Unit of Prenatal Obstetric Diagnosis, Department of Gynecology and Obstetrics, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Gudinchet, François, E-mail: Francois.Gudinchet@chuv.ch [Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland); Meuli, Reto, E-mail: Reto.Meuli@chuv.ch [Unit of Pediatric Radiology, Department of Diagnostic and Interventional Radiology, Centre Hospitalière Universitaire Vaudois (CHUV), Rue du Bugnon 46, 1011 Lausanne (Switzerland)

2013-12-01

Objectives: To compare the accuracy of prenatal ultrasonography (US) to magnetic resonance imaging (MRI) in the characterisation of congenital lung anomalies, and to assess their agreement with final diagnosis. To evaluate the influence of additional MRI information on therapeutic management. Methods: 26 prenatal congenital lung anomalies detected consecutively between 2006 and 2012 were retrospectively evaluated. Lesions were initially observed at prenatal US and further investigated with MRI. Prenatal US and MRI imaging findings, and suggested diagnosis were compared with the final diagnosis, obtained from autopsies (4), pathological evaluation following surgical resection (15) and postnatal imaging studies (7). Results: Postnatal diagnoses included 7 congenital pulmonary airway malformations, 8 complex lesions, 7 overinflations, 1 sequestration, 1 bronchogenic cyst, 1 blastoma and 1 bilateral lymphangioma. Suggested prenatal US and MRI diagnosis was correct in 34.6% and 46.2% of patients, respectively, mainly isolated lung lesions with typical imaging findings. Nonspecific imaging findings at US and MRI studies were observed in 38.4% of cases. In 42% of the operated anomalies, pathological dissection revealed the presence of complex anomalies. MRI changed the US diagnosis, but not the further management in 9.7% of the lesions. Conclusions: Prenatal US and MRI showed a high accuracy in the diagnosis of isolated congenital lung lesions with typical imaging findings. However, overall characterisation rates were low, because of both a high percentage of complex lesions and of lesions with nonspecific imaging findings. MRI was better than US in characterising complex lesions, but its additional information did not influence therapy decisions.

Improving Neurodevelopmental Outcomes in Children with Congenital Heart Disease: An Intervention Study

Science.gov (United States)

2017-10-01

AWARD NUMBER: W81XWH-16-1-0741 TITLE: Improving Neurodevelopmental Outcomes in Children with Congenital Heart Disease: An Intervention Study...2017 4. TITLE AND SUBTITLE Improving Neurodevelopmental Outcomes in Children with Congenital Heart Disease: An Intervention Study 5a. CONTRACT NUMBER...the most prevalent, and arguably the most distressing, long-term morbidity in the burgeoning population with congenital heart disease (CHD). Deficits

Pelvic Venous Variations in Patients with Congenital Inferior Vena Cava Anomalies: Classification with Computed Tomography

International Nuclear Information System (INIS)

Morita, S.; Higuchi, M.; Saito, N.; Mitsuhashi, N.

2007-01-01

Background: Pelvic venous variations of congenital inferior vena cava (IVC) anomalies that have the potential to cause problems during related surgery and interventional radiology are not fully appreciated. Purpose: To classify pelvic venous variations of congenital IVC anomalies using computed tomography (CT). Material and Methods: CT images for 36 patients with congenital IVC anomalies were retrospectively reviewed. Pelvic venous variations were classified with regard to the relationship with the iliac veins and the presence of interiliac communication. Results: Pelvic venous variations were classified into eight types. One azygous continuation displayed normal connection with the bilateral common iliac veins (CIV) (type 1). Of 28 double IVCs, 11 (39.3%) displayed no interiliac communication (type 2a), five (17.9%) displayed interiliac communication from the left CIV (type 2b), one (3.6%) had communication from the right CIV (type 2c), six (21.4%) had communication from the left internal iliac vein (IIV) (type 2d), and five (17.9%) had communication from the right IIV (type 2e). Six left IVCs displayed symmetrical-to-normal connection with the bilateral CIV (type 3). One absence of infrarenal IVC displayed no connection with the CIV (type 4). Conclusion: Eight types of pelvic venous variations of congenital IVC anomalies were classified using CT

Improving Information on Maternal Medication Use by Linking Prescription Data to Congenital Anomaly Registers : A EUROmediCAT Study

NARCIS (Netherlands)

de Jonge, Linda; Garne, Ester; Gini, Rosa; Jordan, Susan E.; Klungsoyr, Kari; Loane, Maria; Neville, Amanda J.; Pierini, Anna; Puccini, Aurora; Thayer, Daniel S.; Tucker, David; Hansen, Anne Vinkel; Bakker, Marian K.

2015-01-01

Research on associations between medication use during pregnancy and congenital anomalies is significative for assessing the safe use of a medicine in pregnancy. Congenital anomaly (CA) registries do not have optimal information on medicine exposure, in contrast to prescription databases. Linkage of

Correlates of posttraumatic stress disorder in adults with congenital heart disease.

Science.gov (United States)

Eslami, Bahareh

2017-05-01

The aims of this study were to compare the level of posttraumatic stress disorder between adults with and without congenital heart disease, and to examine the correlates of posttraumatic stress disorder (e.g., sociodemographics). Cross-sectional. Two university-affiliated heart hospitals in Tehran, Iran. A sample of 347 adults with congenital heart disease aged 18-64 years (52% women), and 353 adults without congenital heart disease matched by sex and age (±2 years) was recruited. The PTSD Scale: Self-report version was used to assess the diagnosis and severity of posttraumatic stress disorder. Hierarchical multivariate logistic regression analyses were performed to explore correlates of likely posttraumatic stress disorder diagnosis among each group of participants. The posttraumatic stress disorder in the patients was comparable to those of the control group, except for increased arousal (P = .027) which was scored higher among the patients. Over 52% of adults with congenital heart disease met the criteria for a likely posttraumatic stress disorder diagnosis compared with 48% of adults without congenital heart disease. The regression analyses among patients revealed that elevated depressive symptoms (OR = 1.27) and a positive history of cardiac surgery (OR = 2.02) were significantly associated with posttraumatic stress disorder. The model could explain 29% of the variance in posttraumatic stress disorder. The high and comparable prevalence of posttraumatic stress disorder among patients and nonpatients highlight the significance of the context in which adults with congenital heart disease may face other/additional stressors than disease-related ones, an issue that clinicians need also take into account. Furthermore, the association of posttraumatic stress disorder with elevated depressive symptoms warrant a comprehensive psychological assessment and management of adults with congenital heart disease, in particular among those with a history of

Risks and Benefits of Exercise Training in Adults With Congenital Heart Disease.

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Chaix, Marie-A; Marcotte, François; Dore, Annie; Mongeon, François-Pierre; Mondésert, Blandine; Mercier, Lise-Andrée; Khairy, Paul

2016-04-01

Exercise capacity in adults with various forms of congenital heart disease is substantially lower than that of the general population. Although the underlying congenital heart defect, and its sequelae, certainly contribute to observed exercise limitations, there is evidence suggesting that deconditioning and a sedentary lifestyle are important implicated factors. The prevalence of acquired cardiovascular comorbidities is on the increase in the aging population with congenital heart disease, such that obesity and a sedentary lifestyle confer increased risk. Health fears and misconceptions are common barriers to regular physical activity in adults with congenital heart disease, despite evidence linking lower functional capacity to poor outcomes, and data supporting the safety and efficacy of exercise in bestowing numerous physical and psychosocial rewards. With few exceptions, adults with congenital heart disease should be counselled to exercise regularly. In this contemporary review, we provide a practical approach to assessing adults with congenital heart disease before exercise training. We examine available evidence supporting the safety and benefits of exercise training. Risks associated with exercise training in adults with congenital heart disease are discussed, particularly with regard to sudden cardiac death. Finally, recommendations for exercise training are provided, with consideration for the type of congenital heart disease, the nature (ie, static vs dynamic) and intensity (ie, low, medium, high) of the physical activity, and associated factors such as systemic ventricular dysfunction and residual defects. Further research is required to determine optimal exercise regimens and to identify effective strategies to implement exercise training as a key determinant of healthy living. Copyright © 2016 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

Behaviour Problems in Children with Congenital Heart Disease

Directory of Open Access Journals (Sweden)

Beena Johnson

2015-01-01

Full Text Available As more children survive with congenital heart diseases, management of their behavioural problems are becoming increasingly important. In this article we aim to review the current status of knowledge on this aspect. Children with congenital heart diseases have more behavioural problems compared to children without chronic illnesses. Behavioural problems in children can be classified into externalizing behaviours and internalizing behaviours. Externalizing behaviours are marked by defiance, impulsivity, hyperactivity, disruptiveness, aggression and antisocial features. Internalizing behaviours are evidenced by withdrawal, dysphoria and anxiety. Boys with congenital heart diseases have more externalizing problems compared to girls. Preoperative hypoxia as well as peri and postoperative cardiocirculatory insufficiency can lead to internalizing and externalizing behavioral problems in future. High treatment intensity and palliative interventions are associated with poor behavioral outcomes. Children who underwent open heart surgery at very young age are prone to develop attention-deficit hyperactivity disorder on reaching school age. A comprehensive approach in this field is essential, so that effective early interventions and guidance can be planned.

A contemporary, single-institutional experience of surgical versus expectant management of congenital heart disease in trisomy 13 and 18 patients.

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Costello, John P; Weiderhold, Allison; Louis, Clauden; Shaughnessy, Conner; Peer, Syed M; Zurakowski, David; Jonas, Richard A; Nath, Dilip S

2015-06-01

The objective of this study was to examine a large institutional experience of patients with trisomy 13 and trisomy 18 in the setting of comorbid congenital heart disease and present the outcomes of surgical versus expectant management. It is a retrospective single-institution cohort study. Institutional review board approved this study. Thirteen consecutive trisomy 18 patients and three consecutive trisomy 13 patients (sixteen patients in total) with comorbid congenital heart disease who were evaluated by our institution's Division of Cardiovascular Surgery between January 2008 and December 2013 were included in the study. The primary outcome measures evaluated were operative mortality (for patients who received surgical management), overall mortality (for patients who received expectant management), and total length of survival during follow-up. Of the thirteen trisomy 18 patients, seven underwent surgical management and six received expectant management. With surgical management, operative mortality was 29 %, and 80 % of patients were alive after a median follow-up of 116 days. With expectant management, 50 % of patients died before hospital discharge. Of the three patients with trisomy 13, one patient underwent surgical management and two received expectant management. The patient who received surgical management with complete repair was alive at last follow-up over 2 years after surgery; both patients managed expectantly died before hospital discharge. Trisomy 13 and trisomy 18 patients with comorbid congenital heart disease can undergo successful cardiac surgical intervention. In this population, we advocate that nearly all patients with cardiovascular indications for operative congenital heart disease intervention should be offered complete surgical repair over palliative approaches for moderately complex congenital cardiac anomalies.

Early extubation after congenital heart surgery

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Mirza Halimić

2014-12-01

Full Text Available Introduction: Despite recent advances in anesthesia, cardiopulmonary bypass and surgical techniques, children undergoing congenital heart surgery require postoperativemechanical ventilation. Early extubation was definedas ventilation shorter than 12 hours. Aim of this study is to identify factors associated with successful early extubation after pediatric cardiac surgery.Methods: The study was performed during period from January 2006 to January 2011 at Pediatric Clinic and Heart Center University Clinical center Sarajevo. One hundred children up to 5 years of age, who have had congenital heart disease, with left–right shunt and obstructive heart disease were included in the study. Patients were divided into two groups: Group I - patients extubated within 12 hours after surgery and Group II - patients extubated 12 or more hours after surgery. Results: The most frequently encountered preoperative variables were age with odds ratio 4% 95%CI (1-7%, Down's syndrome 8.5 95%CI (1.6-43.15, failure to thrive 4.3 95%CI( 1-18. Statistically significant postoperative data included lung disease (reactive airways, pneumonia, atelectasis, pneumothorax and with odds ratio 35.1 95 %CI (4-286 and blood transfusion with odds ratio 4.6 95%CI (2-12. Blood transfusion (p=0.002 (Wald=9.2 95%CI (2-12, during as well as after operation procedure has statistically significant influence on prediction time of extubation. Proven markers were age with cut of 21.5 months (sensitivity 74% and specificity 70% and extracorporeal circulation (ECC with cut-of 45.5 minutes (sensitivity 71% and specificity 65%.Conclusion: Early extubation is possible in many children undergoing congenital heart surgery. Younger age and prolonged ECC time are markers associated with prolonged mechanical ventilation.

The potential of the European network of congenital anomaly registers (EUROCAT) for drug safety surveillance : a descriptive study

NARCIS (Netherlands)

Meijer, Willemijn M.; Cornel, Martina C.; Dolk, Helen; de Walle, Hermien E. K.; Armstrong, Nicola C.; de Jong-van den Berg, Lolkje T. W.

Background European Surveillance of Congenital Anomalies (EUROCAT) is a network of population-based congenital anomaly registries in Europe surveying more than I million births per year, or 25% of the births in the European Union. This paper describes the potential of the EUROCAT collaboration for

Chromosomal microarrays testing in children with developmental disabilities and congenital anomalies

Directory of Open Access Journals (Sweden)

Guillermo Lay-Son

2015-04-01

Full Text Available OBJECTIVES: Clinical use of microarray-based techniques for the analysis of many developmental disorders has emerged during the last decade. Thus, chromosomal microarray has been positioned as a first-tier test. This study reports the first experience in a Chilean cohort. METHODS: Chilean patients with developmental disabilities and congenital anomalies were studied with a high-density microarray (CytoScan(tm HD Array, Affymetrix, Inc., Santa Clara, CA, USA. Patients had previous cytogenetic studies with either a normal result or a poorly characterized anomaly. RESULTS: This study tested 40 patients selected by two or more criteria, including: major congenital anomalies, facial dysmorphism, developmental delay, and intellectual disability. Copy number variants (CNVs were found in 72.5% of patients, while a pathogenic CNV was found in 25% of patients and a CNV of uncertain clinical significance was found in 2.5% of patients. CONCLUSION: Chromosomal microarray analysis is a useful and powerful tool for diagnosis of developmental diseases, by allowing accurate diagnosis, improving the diagnosis rate, and discovering new etiologies. The higher cost is a limitation for widespread use in this setting.

Coronary artery anomalies in Turner Syndrome.

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Viuff, Mette H; Trolle, Christian; Wen, Jan; Jensen, Jesper M; Nørgaard, Bjarne L; Gutmark, Ephraim J; Gutmark-Little, Iris; Mortensen, Kristian H; Gravholt, Claus Højbjerg; Andersen, Niels H

Congenital heart disease, primarily involving the left-sided structures, is often seen in patients with Turner Syndrome. Moreover, a few case reports have indicated that coronary anomalies may be more prevalent in Turner Syndrome than in the normal population. We therefore set out to systematically investigate coronary arterial anatomy by computed tomographic coronary angiography (coronary CTA) in Turner Syndrome patients. Fifty consecutive women with Turner Syndrome (mean age 47 years [17-71]) underwent coronary CTA. Patients were compared with 25 gender-matched controls. Coronary anomaly was more frequent in patients with Turner Syndrome than in healthy controls [20% vs. 4% (p = 0.043)]. Nine out of ten abnormal cases had an anomalous left coronary artery anatomy (absent left main trunk, n = 7; circumflex artery originating from the right aortic sinus, n = 2). One case had a tubular origin of the right coronary artery above the aortic sinus. There was no correlation between the presence of coronary arterial anomalies and karyotype, bicuspid aortic valve, or other congenital heart defects. Coronary anomalies are highly prevalent in Turner Syndrome. The left coronary artery is predominantly affected, with an absent left main coronary artery being the most common anomaly. No hemodynamically relevant coronary anomalies were found. Copyright © 2016 Society of Cardiovascular Computed Tomography. All rights reserved.

Chronic kidney disease in congenital heart disease patients: a narrative review of evidence.

Science.gov (United States)

Morgan, Catherine; Al-Aklabi, Mohammed; Garcia Guerra, Gonzalo

2015-01-01

Patients with congenital heart disease have a number of risk factors for the development of chronic kidney disease (CKD). It is well known that CKD has a large negative impact on health outcomes. It is important therefore to consider that patients with congenital heart disease represent a population in whom long-term primary and secondary prevention strategies to reduce CKD occurrence and progression could be instituted and significantly change outcomes. There are currently no clear guidelines for clinicians in terms of renal assessment in the long-term follow up of patients with congenital heart disease. Consolidation of knowledge is critical for generating such guidelines, and hence is the purpose of this view. This review will summarize current knowledge related to CKD in patients with congenital heart disease, to highlight important work that has been done to date and set the stage for further investigation, development of prevention strategies, and re-evaluation of appropriate renal follow-up in patients with congenital heart disease. The literature search was conducted using PubMed and Google Scholar. Current epidemiological evidence suggests that CKD occurs in patients with congenital heart disease at a higher frequency than the general population and is detectable early in follow-up (i.e. during childhood). Best evidence suggests that approximately 30 to 50 % of adult patients with congenital heart disease have significantly impaired renal function. The risk of CKD is higher with cyanotic congenital heart disease but it is also present with non-cyanotic congenital heart disease. Although significant knowledge gaps exist, the sum of the data suggests that patients with congenital heart disease should be followed from an early age for the development of CKD. There is an opportunity to mitigate CKD progression and negative renal outcomes by instituting interventions such as stringent blood pressure control and reduction of proteinuria. There is a need to

Gastrointestinal system malformations in children are associated with congenital heart defects.

Science.gov (United States)

Orün, Utku Arman; Bilici, Meki; Demirçeken, Fulya G; Tosun, Mahya; Ocal, Burhan; Cavuşoğlu, Yusuf Hakan; Erdoğan, Derya; Senocak, Filiz; Karademir, Selmin

2011-03-01

To determine the frequency of congenital heart defects (CHD) in children with gastrointestinal malformations (GISM) and mortality rates in patients with GISM. Two hundred and forty two consecutive children patients with GISM followed up in Pediatric Surgery Clinics of our hospital were examined for cardiovascular anomaly by the Department of Pediatric Cardiology, and the CHD incidence was investigated by examining the records of the patients retrospectively. Chi-square test was used for the statistical analysis of data. Two hundred and forty two patients with gastrointestinal system malformations were included in the study. Of 242 patients, 135 (55.8%) were male and 107 (44.2%) were female, and their age range was 0-15 years. The most frequent GISM were anorectal malformations (43.2%), atresia involving stomach, ileum or colon (21%) and esophageal atresia/tracheoesophageal fistula (18.3%). Congenital heart defects were observed in 28.5% of the participants. The most frequent defects were as follows; atrial septal defect (31 patients, 44.9%) a, ventricular septal defect (17 patients, 24.6%) and patent ductus arteriosus (5 patients, 7.2%). There was no significant difference (p>0.05) in mortality rate in patients with CHD (16.7%) and without CHD (13.3%) undergoing operations for GISM. We would like to emphasize the importance of the earliest possible cardiological evaluation of all patients with gastrointestinal system malformations.

Effects of Air Pollution on the Risk of Congenital Anomalies: A Systematic Review and Meta-Analysis

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Esther Kai-Chieh Chen

2014-07-01

Full Text Available Congenital anomalies are the main causes of preterm and neonatal mortality and morbidity. We investigated the association between congenital anomalies and mothers’ exposure to air pollution during pregnancy by combining risk estimates for a variety of air pollutants (SO2, NO2, PM10, PM2.5, CO and O3 and anomaly defect outcomes. Seventeen articles were included in the systematic review and thirteen studies were taken into account in the meta-analysis. Combined estimated were calculated separately according to whether the exposure metric was continuous or categorical. Only one significant combination was; NO2 concentrations were significantly associated with coarctation of the aorta (OR = 1.20 per 10 ppb, 95% CI, (1.02, 1.41. This finding could stem from strong heterogeneity in study designs. Improved exposure assessment methods, in particular more accurate spatial measurements or modeling, standardized definition of cases and of better control of confounders are highly recommended for future congenital anomalies research in this area.

Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association.

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Solomon, Benjamin D; Raam, Manu S; Pineda-Alvarez, Daniel E

2011-06-01

The goal of this study was to describe a novel pattern of genitourinary (GU) anomalies in VACTERL association,which involves congenital anomalies affecting the vertebrae,anus, heart, trachea and esophagus, kidneys, and limbs.We collected clinical data on 105 patients diagnosed with VACTERL association and analyzed a subset of 89 patients who met more stringent inclusion criteria. Twenty-one percent of patients have GU anomalies, which are more severe (but not more frequent) in females. Anomalies were noted in patients without malformations affecting the renal, lower vertebral, or lower gastrointestinal systems. There should be a high index of suspicion for the presence of GU anomalies even in patients who do not have spatially similar malformations.

Hypospadiac Duplication of Anterior Urethra-a Rare Congenital Anomaly.

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Goyal, Bhawana; Gupta, Suresh; Goyal, Parag

2017-02-01

Duplication of the urethra is a complex and rarely seen congenital anomaly with three anatomic variants: epispadiac (dorsal), hypospadiac (ventral), and Y-type. We report here a case of hypospadiac duplication of anterior urethra with dorsal blind ending urethra in a 9-year-old boy who presented with complaint of passing urine from the ventral aspect of penis.

Cyanotic congenital heart disease and atherosclerosis.

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Tarp, Julie Bjerre; Jensen, Annette Schophuus; Engstrøm, Thomas; Holstein-Rathlou, Niels-Henrik; Søndergaard, Lars

2017-06-01

Improved treatment options in paediatric cardiology and congenital heart surgery have resulted in an ageing population of patients with cyanotic congenital heart disease (CCHD). The risk of acquired heart disease such as atherosclerosis increases with age.Previous studies have speculated whether patients with CCHD are protected against atherosclerosis. Results have shown that the coronary arteries of patients with CCHD are free from plaques and stenosis. Decreased carotid intima-media thickness and low total plasma cholesterol may indicate a reduced risk of later development of atherosclerosis. However, the evidence is still sparse and questionable, and a reasonable explanation for the decreased risk of developing atherosclerosis in patients with CCHD is still missing.This review provides an overview of what is known about the prevalence and potential causes of the reduced risk of atherosclerosis in patients with CCHD. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

Imaging techniques for visualizing and phenotyping congenital heart defects in murine models.

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Liu, Xiaoqin; Tobita, Kimimasa; Francis, Richard J B; Lo, Cecilia W

2013-06-01

Mouse model is ideal for investigating the genetic and developmental etiology of congenital heart disease. However, cardiovascular phenotyping for the precise diagnosis of structural heart defects in mice remain challenging. With rapid advances in imaging techniques, there are now high throughput phenotyping tools available for the diagnosis of structural heart defects. In this review, we discuss the efficacy of four different imaging modalities for congenital heart disease diagnosis in fetal/neonatal mice, including noninvasive fetal echocardiography, micro-computed tomography (micro-CT), micro-magnetic resonance imaging (micro-MRI), and episcopic fluorescence image capture (EFIC) histopathology. The experience we have gained in the use of these imaging modalities in a large-scale mouse mutagenesis screen have validated their efficacy for congenital heart defect diagnosis in the tiny hearts of fetal and newborn mice. These cutting edge phenotyping tools will be invaluable for furthering our understanding of the developmental etiology of congenital heart disease. Copyright © 2013 Wiley Periodicals, Inc.

Multiplex Ligation-Dependent Probe Amplification Analysis of GATA4 Gene Copy Number Variations in Patients with Isolated Congenital Heart Disease

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Valentina Guida

2010-01-01

Full Text Available GATA4 mutations are found in patients with different isolated congenital heart defects (CHDs, mostly cardiac septal defects and tetralogy of Fallot. In addition, GATA4 is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. Thus far, no study has been carried out to investigate the role of GATA4 copy number variations (CNVs in non-syndromic CHDs. To explore the possible occurrence of GATA4 gene CNVs in isolated CHDs, we analyzed by multiplex ligation-dependent probe amplification (MLPA a cohort of 161 non-syndromic patients with cardiac anomalies previously associated with GATA4 gene mutations. The patients were mutation-negative for GATA4, NKX2.5, and FOG2 genes after screening with denaturing high performance liquid chromatography. MLPA analysis revealed that normalized MLPA signals were all found within the normal range values for all exons in all patients, excluding a major contribution of GATA4 gene CNVs in CHD pathogenesis.

Quality of Life and Congenital Heart Disease in Childhood and Adolescence

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Bertoletti, Juliana [Instituto de Cardiologia/Fundação Universitária de Cardiologia - IC/FUC, Porto Alegre, RS (Brazil); Marx, Giovana Caroline; Hattge, Sérgio Pedro Júnior [Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS (Brazil); Pellanda, Lucia Campos, E-mail: lupellanda@gmail.com [Instituto de Cardiologia/Fundação Universitária de Cardiologia - IC/FUC, Porto Alegre, RS (Brazil); Universidade Federal de Ciências da Saúde de Porto Alegre, Porto Alegre, RS (Brazil)

2014-02-15

Advances in cardiac surgery techniques and early diagnosis have enabled the increased survival of individuals with congenital heart disease. The investigation of the quality of life in children and adolescents with congenital heart disease provides complementary information to clinical data that can assist in decision making on the part of health professionals. Although many studies have been conducted to investigate the quality of life of children and adolescents with congenital heart disease, the results prove to be contradictory; while some studies show that congenital heart disease can impact the quality of life, others describe a better perception of quality of life among children and adolescents who suffer from the disease when compared with healthy control subjects. The purpose of this study is to review the literature on the assessment of health related quality of life in children and adolescents with congenital heart disease, in order to systematize the existing knowledge on this topic today. It is observed that research seeks to investigate aspects of personality in cardiac patients, their coping strategies used and perceived social support, aiming at better understanding the association of these variables with the level of quality of life in this population.

Quality of Life and Congenital Heart Disease in Childhood and Adolescence

International Nuclear Information System (INIS)

Bertoletti, Juliana; Marx, Giovana Caroline; Hattge, Sérgio Pedro Júnior; Pellanda, Lucia Campos

2014-01-01

Advances in cardiac surgery techniques and early diagnosis have enabled the increased survival of individuals with congenital heart disease. The investigation of the quality of life in children and adolescents with congenital heart disease provides complementary information to clinical data that can assist in decision making on the part of health professionals. Although many studies have been conducted to investigate the quality of life of children and adolescents with congenital heart disease, the results prove to be contradictory; while some studies show that congenital heart disease can impact the quality of life, others describe a better perception of quality of life among children and adolescents who suffer from the disease when compared with healthy control subjects. The purpose of this study is to review the literature on the assessment of health related quality of life in children and adolescents with congenital heart disease, in order to systematize the existing knowledge on this topic today. It is observed that research seeks to investigate aspects of personality in cardiac patients, their coping strategies used and perceived social support, aiming at better understanding the association of these variables with the level of quality of life in this population

Loan applications in adult patients with congenital heart disease: a French study.

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Ladouceur, Magalie; Dugardin, Bertrand; Gourdin, Stéphanie; Sidi, Daniel; Bonnet, Damien; Iserin, Laurence

2011-01-01

Improvements in the treatment of children with congenital heart disease have led to most of these patients reaching adulthood. Despite the increase in lifespan, very little is known about their quality of life - in particular, their ability to obtain a mortgage or consumer loan. To investigate the outcome of mortgage and loan applications made by adults with differential severities of congenital heart disease. Four hundred and seventy-six patients were invited to participate in a questionnaire-based interview by phone. Of these patients, one hundred and forty-two responded. Respondents were classified into three categories ('significant', 'complex' and 'mild') based on congenital heart disease severity according to the Bethesda conference. Ninety patients (64%) had applied for loans; 17 (16.5%) did not report their heart disease to the insurance company, 13 were refused insurance and 39 were asked to pay surplus fees. The imposed fees concerned patients classified in the 'significant' and 'complex' groups (Ploan had no influence on loan application outcomes. Adults with congenital heart disease are considerably more likely to have difficulty obtaining a mortgage or loan, independent of their congenital heart disease severity. Moreover, despite an increased obtainment of a loan in patients classified as 'mild', the refusal rates were identical for patients classified as having 'significant' or 'complex' congenital heart disease, although their prognosis is different. Copyright © 2011 Elsevier Masson SAS. All rights reserved.

The World Database for Pediatric and Congenital Heart Surgery: The Dawn of a New Era of Global Communication and Quality Improvement in Congenital Heart Disease.

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St Louis, James D; Kurosawa, Hiromi; Jonas, Richard A; Sandoval, Nestor; Cervantes, Jorge; Tchervenkov, Christo I; Jacobs, Jeffery P; Sakamoto, Kisaburo; Stellin, Giovanni; Kirklin, James K

2017-09-01

The World Society for Pediatric and Congenital Heart Surgery was founded with the mission to "promote the highest quality comprehensive cardiac care to all patients with congenital heart disease, from the fetus to the adult, regardless of the patient's economic means, with an emphasis on excellence in teaching, research, and community service." Early on, the Society's members realized that a crucial step in meeting this goal was to establish a global database that would collect vital information, allowing cardiac surgical centers worldwide to benchmark their outcomes and improve the quality of congenital heart disease care. With tireless efforts from all corners of the globe and utilizing the vast experience and invaluable input of multiple international experts, such a platform of global information exchange was created: The World Database for Pediatric and Congenital Heart Disease went live on January 1, 2017. This database has been thoughtfully designed to produce meaningful performance and quality analyses of surgical outcomes extending beyond immediate hospital survival, allowing capture of important morbidities and mortalities for up to 1 year postoperatively. In order to advance the societal mission, this quality improvement program is available free of charge to WSPCHS members. In establishing the World Database, the Society has taken an essential step to further the process of global improvement in care for children with congenital heart disease.

Aortopathy associated with congenital heart disease: A current literature review

International Nuclear Information System (INIS)

Francois, Katrien

2015-01-01

In patients born with congenital heart disease, dilatation of the aorta is a frequent feature at presentation and during follow-up after surgical intervention. This review provides an overview of the pathologies associated with aortopathy, and discusses the current knowledge on pathophysiology, evolution, and treatment guidelines of the aortic disease associated with congenital heart defects

Cardiac imaging : X-ray, magnetic resonance and ultrasound in congenital heart diseases

International Nuclear Information System (INIS)

Rigby, M.L.

1991-01-01

In many instances, the management of simple or common congenital cardiac anomalies, such as patient arterial duct, atrial septal defect or ventricular septal defect, can be based upon clinical evaluation, the chest radiograph and conventional transthoracic echocardiography and Doppler investigation. Angiography is usually required for those conditions, such as the tetralogy of Fallot, in which the size and anatomy of the pulmonary arteries influence the timing or the type of surgical intervention. Interventional cardiac catheterization, however, requires high quality X-ray screening and, frequently, transesophageal echocardiography. The investigation of more complex anomalies, such as those in hearts with a univentricular atrioventricular connection, often involves several methods of investigation. These complex anomalies require complete morphological and physiological assessment in order to provide optimum medical and surgical management. Increasingly, the diagnosis is established in utero. Should termination of pregnancy then be encouraged? Or, should all patients be subjected to an aggressive medical and surgical treatment regimen to optimize the chances of a later successful Fontan operation? Finally, what is the role of cardiac transplantation or the Norwood operation in those infants in whom the long term prognosis of conventional treatment is considered to be poor? (author). 20 refs.; 6 figs

Parental age and birth order in Chinese children with congenital heart disease.

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Tay, J S; Yip, W C; Joseph, R

1982-01-01

Parental age and birth order were studied in 100 Chinese children with congenital heart disease (proven by cardiac catheterisation) and in 100 controls. A higher incidence of congenital heart disease was present in the children with higher birth orders. No relationship was found between the incidence and the paternal or maternal ages. Using the method of multiple regression analysis this birth order effect was significant (p less than 0.01) and independent of parental age. This finding provides indirect evidence of environmental influence in the causation of congenital heart disease, which is known to be inherited in a multifactorial manner. Family planning to limit the size of the family may possibly contribute to the reduction of the incidence of congenital heart disease. PMID:7154041

Aortopathy associated with congenital heart disease: A current literature review

Directory of Open Access Journals (Sweden)

Katrien Francois

2015-01-01

Full Text Available In patients born with congenital heart disease, dilatation of the aorta is a frequent feature at presentation and during follow-up after surgical intervention. This review provides an overview of the pathologies associated with aortopathy, and discusses the current knowledge on pathophysiology, evolution, and treatment guidelines of the aortic disease associated with congenital heart defects.

Risk factors for congenital heart diseases in Alexandria, Egypt

International Nuclear Information System (INIS)

Bassili, A.; Mokhtar, S.A.; Dabous, N.I.; Zaher, S.R.; Mokhtar, M.M.; Zaki, A.

2000-01-01

A matched case control study has been conducted in the children's hospitals in Alexandria, Egypt, during 2 years-period, aiming at investigating the risk factors for the occurrence of congenital heart diseases. Our results showed that the significant risk factors for developing any type of congenital heart disease and ventricular septal defects were: older paternal age at birth, positive consanguinity, positive family history, female sex hormones, irradiation, hazardous maternal occupation, diabetes mellitus and suburban or rural residence. However, some environmental/teratogenic factors were not implicated in the etiology of atrial septal defects or pulmonary stenosis. These findings strongly suggest that environmental factors vary according to the specific type of congenital heart disease. This study emphasizes on the need to instruct the public about the importance of pre-marital counselling and the deleterious effects of various teratogens in the environment

Angiocardiography in congenital heart malformations

International Nuclear Information System (INIS)

Soto, B.; Pacifico, A.D.

1990-01-01

The contents of this book are well organized, it deals with the technique of angiocardiography, and describes the angiocardiographic anatomy of the normal heart and offers an excellent sequential analysis of cardiac morphology. The rest of the book describes the angiocardiographic findings observed in individual congenital cardiac disorders

Congenital renal anomalies in cloacal exstrophy: Is there a difference?

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Suson, K D; Inouye, B; Carl, A; Gearhart, J P

2016-08-01

Cloacal exstrophy (CE) is the most severe manifestation of the epispadias-exstrophy spectrum. Previous studies have indicated an increased rate of renal anomalies in children with classic bladder exstrophy (CBE). Given the increased severity of the CE defect, it was hypothesized that there would be an even greater incidence among these children. The primary objective was to characterize renal anatomy in CE patients. Two secondary objectives were to compare these renal anatomic findings in male and female patients, and female patients with and without Müllerian anomalies. An Institutional Review Board-approved retrospective review of 75 patients from an institutional exstrophy database. Data points included: age at analysis, sex, and renal and Müllerian anatomy. Abnormal renal anatomy was defined as a solitary kidney, malrotation, renal ectopia, congenital cysts, duplication, and/or proven obstruction. Abnormal Müllerian anatomy was defined as uterine or vaginal duplication, obstruction, and/or absence. The Summary Table presents demographic data and renal anomalies. Males were more likely to have renal anomalies. Müllerian anomalies were present in 65.7% of female patients. Girls with abnormal Müllerian anatomy were 10 times more likely to have renal anomalies than those with normal Müllerian anatomy (95% CI 1.1-91.4, P = 0.027). Patients with CE had a much higher rate of renal anomalies than that reported for CBE. Males and females with Müllerian anomalies were at greater risk than females with normal uterine structures. Mesonephric and Müllerian duct interaction is required for uterine structures to develop normally. It has been proposed that women with both Müllerian and renal anomalies be classified separately from other uterine malformations on an embryonic basis. In these patients, an absent or dysfunctional mesonephric duct has been implicated as potentially causal. This provided an embryonic explanation for uterine anomalies in female CE patients

Multislice CT of the auditory ossicles and ossicular ligaments. Delineation of normal anatomy and diagnosis of congenital anomaly

International Nuclear Information System (INIS)

Matsumoto, Shigeru; Tozaki, Hiromitu; Miyazaki, Hidemi

2001-01-01

By using four detector rows with 0.5 mm collimation, high resolution isotropic voxel data throughout the middle ear can be obtained with Multislice Helical CT (MSCT). The purpose of this study is to evaluate the usefulness of MSCT in demonstrating the auditory ossicles and ossicular ligaments and in the diagnosis of congenital ossicular anomalies. Thirty normal middle ears and 23 ear of 20 patients with suspicious congenital ossicular anomalies were examined. Axial images and multiplanar images were reconstructed. In the normal group, the images were evaluated based on scores for the visualization of the anatomical structure of the auditory ossicles and ossicular ligaments. In the group with anomalies, the findings suggesting ossicular anomalies were referenced and the prevalence was conjectured. Visualization of the auditory ossicles and ossicular ligaments was 98.3%-100% and 78.3%-100%, respectively. Congenital ossicular anomalies were detected in 20 ears (87.0%). MSCT is an accurate method for demonstrating minute and complicated 3D structures of the middle ear, and is found to be a technique of choice for diagnosis of ossicular anomalies. (author)

Computer based extraction of phenoptypic features of human congenital anomalies from the digital literature with natural language processing techniques.

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Karakülah, Gökhan; Dicle, Oğuz; Koşaner, Ozgün; Suner, Aslı; Birant, Çağdaş Can; Berber, Tolga; Canbek, Sezin

2014-01-01

The lack of laboratory tests for the diagnosis of most of the congenital anomalies renders the physical examination of the case crucial for the diagnosis of the anomaly; and the cases in the diagnostic phase are mostly being evaluated in the light of the literature knowledge. In this respect, for accurate diagnosis, ,it is of great importance to provide the decision maker with decision support by presenting the literature knowledge about a particular case. Here, we demonstrated a methodology for automated scanning and determining of the phenotypic features from the case reports related to congenital anomalies in the literature with text and natural language processing methods, and we created a framework of an information source for a potential diagnostic decision support system for congenital anomalies.

Cyanotic congenital heart disease

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Yeon, Kyung Mo; Yoo, Shi Joon; Han, Man Chung; Hong, Chang Yee; Lee, Yung Kyoon [Seoul National University College of Medicine, Seoul (Korea, Republic of)

1979-12-15

Authors analyzed 265 cases of cyanotic congenital heart disease in which cardiac catheterization and angiocardiography were done at the Department of Radiology, Seoul National University Hospital between April 1973 and August 1979. The results are as follows; 1. Among 265 cases, 178 patients were male and 87 patients were female. 240 patients were below the age of 20 and none was over 35 year. 2. The incidence of individual lesions are as follows: tetralogy of Fallot-176; double outlet right ventricle-20; pentalogy-12; trilogy-11; corrected transposition of great arteries-10; complete transposition of great arteries-8; pulmonary atresia-7; single ventricle-6; Ebstein's anomaly-5; total anomalous pulmonary venous return-4; tricuspid atresia-3; double outlet left ventricle-1; truncus arteriosus-1; hypoplastic left ventricle-1. 3. Fallot's teralogy, pentalogy and trilogy were characteristic in their simple chest and angiocardiographic manifestations, but in a few cases of tetralogy and pentalogy it was difficult to differentiate them from double outlet right ventricle or pulmonary atresia. 4. In double outlet right ventricle and transposition of great arteries which are the pathologic spectrum resulting from abnormal conal growth, differential points were ventricular and great arterial loop patterns and their connections but it was very difficult to differentiate them from each other by single injection into one ventricle alone. 5. Ebstein's anomaly and total anomalous pulmonary venous return were so characteristic in angiocardiography was done ventriculography alone. 6. In 7 cases with double outlet right ventricle and transposition of great arteries, selective biventriculography was done and more accurate diagnosis could be made, which was quite difficult with one ventriculography alone. In 31 cases, cineangiocardiography was done and it gave more accurate information about the type and degree of pulmonary stenosis and overriding of aorta, the origin

Congenital Anomalies: Public Health Interventions to Ensure its Prevention and Expansion of Care to the Patients

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Saurabh RamBihariLal Shrivastava

2015-03-01

Full Text Available Congenital anomalies can be defined as structural or functional anomalies, including metabolic / biochemical disorders, which are present at the time of birth. Congenital anomalies has been recognized as a major public health concern, owing to its universal distribution, associated long-term disability; social stigma; emotional / psychological stress for the family members; increased medical expenditure; and burden on the health care delivery system and societies. To prevent the occurrence of congenital anomalies, due attention should be given to establishment of appropriate surveillance systems to record cases from both community and hospital settings; strengthening of public health system; promoting research to explore the etiological factors and diagnosis/prevention strategies; fostering international cooperation; and discouraging the practice of consanguineous marriage / conception at an advanced age / further reproduction after birth of a malformed child. To conclude, there is an indispensable need to formulate a comprehensive policy, that should be well-supported by an efficient surveillance system, dedicated health care professionals and involvement of all stakeholders. [Cukurova Med J 2015; 40(1.000: 135-137

Association of two respiratory congenital anomalies: tracheal diverticulum and cystic adenomatoid malformation of the lung

International Nuclear Information System (INIS)

Restrepo, S.; Villamil, M.A.; Rojas, I.C.; Lemos, D.F.; Echeverri, S.; Angarita, M.; Triana, G.

2004-01-01

Many associations of congenital anomalies of the respiratory system have been reported, but the combination of tracheal diverticulum and cystic adenomatoid malformation (CCAM) is unique. We present a patient with these two anomalies and analyze their embryological correlation. (orig.)

Spectrum Of Congenital Heart Disease In Full Term Neonates.

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Bibi, Saima; Hussain Gilani, Syed Yasir; Bibi, Shawana

2018-01-01

Congenital heart disease is a significant problem world over especially in neonates. Early diagnosis and prompt interventions in neonatal period precludes the mortality associated with this disorder. The objective of this study was to highlight the diversity of congenital cardiac defects in our region so that appropriate interventions are devised to minimize significant morbidity and mortality associated with this disorder. This descriptive cross-sectional study was conducted at the Neonatology Unit of Department of Paediatrics, Ayub Teaching Hospital from January 2015 to December 2016. Approval of ethical committee was taken. All fullterm neonates of either gender who presented in department of neonatology including those delivered in hospital or received from other sources (private settings, home deliveries), diagnosed as having congenital heart disease on echocardiography were included in the study. Preterm neonates of either gender were excluded from the study. Patient characteristics were recorded in a designed proforma. Data was entered in SPSS version 20 and analysed. A total of 89 neonates were included in the study. Mean age of presentation was 6.34±7.058 days and range of 1-28 days. There was a male preponderance with 57 (64%) male patients as compared to 32 (36%) female patients. Ventricular septal defect (VSD) was the commonest cardiac lesion being present in 34 (38.2%) patients. Other defects included complex congenital heart disease in 8 (9%), atrial septal defect (ASD) and transposition of great arteries (TGA) in 7 (7.9%) each, atrioventricular septal defect (AVSD) in 6 (6.7%) and Fallots's tetralogy (TOF) and hypoplastic left heart syndrome in 5 (5.6%) each.. Congenital heart disease is a problem of profound importance. It constitutes approximately one third of the total major congenital malformations. There is a diversity of cardiac lesions in our region that warrant early and prompt interventions so that the disease is recognized and treated at

A survey of congenital heart disease and other organic malformations associated with different types of orofacial clefts in Eastern China.

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Sun, Ting; Tian, Hua; Wang, Changqian; Yin, Ping; Zhu, Yaqin; Chen, Xianghua; Tang, Zhengde

2013-01-01

A high incidence of orofacial clefts is reported in China, but no data has shown the relation between cleft types and the incidence of other defects so far. The aim of this study is to assess the incidence of congenital heart diseases and other organic defects associated with different types of orofacial clefts. All children with orofacial clefts, which were sought out from the Health Information System of Shanghai Ninth People's Hospital between 1(st) Jan 2009 and 30(th) Dec 2011, were enrolled in this study. All subjects underwent a thorough examination and grouped by the cleft phenotype. The numbers and types of other organic defects were recorded and analyzed statistically using SPSS 17.0. Of 2180 cases reported as having orofacial clefts, 657 (30.1%) had other congenital abnormalities, which were significantly more common in cleft palate (47.9% (329/687)) than that in cleft lip (10.6% (80/755)) or cleft lip and palate (33.6% (248/738)) (Pmalformation was congenital heart disease, which counted 45.1% (296/657) of all malformations. Disorders of the central nervous system (14.3%(94/657)) and Skeletal anomalies (13.1%(86/657)) were also frequently associated. Additionally, the most common defect in heart was atrial septal defect, which was 39.7% (118/296) of all congenital heart diseases. As the high incidence of heart defects and other organic abnormalities in the children with cleft palate in Eastern China, special attention should be paid to them and echocardiography should be a proposed examination in the evaluation of children with cleft palate before any surgical correction being executed.

A Survey of Congenital Heart Disease and Other Organic Malformations Associated with Different Types of Orofacial Clefts in Eastern China

Science.gov (United States)

Sun, Ting; Tian, Hua; Wang, Changqian; Yin, Ping; Zhu, Yaqin; Chen, Xianghua; Tang, Zhengde

2013-01-01

Background A high incidence of orofacial clefts is reported in China, but no data has shown the relation between cleft types and the incidence of other defects so far. The aim of this study is to assess the incidence of congenital heart diseases and other organic defects associated with different types of orofacial clefts. Methodology and Principal Findings All children with orofacial clefts, which were sought out from the Health Information System of Shanghai Ninth People's Hospital between 1st Jan 2009 and 30th Dec 2011, were enrolled in this study. All subjects underwent a thorough examination and grouped by the cleft phenotype. The numbers and types of other organic defects were recorded and analyzed statistically using SPSS 17.0. Of 2180 cases reported as having orofacial clefts, 657 (30.1%) had other congenital abnormalities, which were significantly more common in cleft palate (47.9% (329/687)) than that in cleft lip (10.6% (80/755)) or cleft lip and palate (33.6% (248/738)) (Pmalformation was congenital heart disease, which counted 45.1% (296/657) of all malformations. Disorders of the central nervous system (14.3%(94/657)) and Skeletal anomalies (13.1%(86/657)) were also frequently associated. Additionally, the most common defect in heart was atrial septal defect, which was 39.7% (118/296) of all congenital heart diseases. Conclusions and Significance As the high incidence of heart defects and other organic abnormalities in the children with cleft palate in Eastern China, special attention should be paid to them and echocardiography should be a proposed examination in the evaluation of children with cleft palate before any surgical correction being executed. PMID:23349958

Evaluation of athletes with complex congenital heart disease.

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Bates, Benjamin A; Richards, Camille; Hall, Michael; Kerut, Edmund K; Campbell, William; McMullan, Michael R

2017-06-01

As a result of improvements in congenital heart surgery, there are more adults alive today with congenital heart disease (CHD) than children. Individuals with cardiac birth defects may be able to participate in physical activities but require proper cardiovascular evaluation. The American Heart Association and American College of Cardiology released guidelines in 2015 for athletes with cardiovascular abnormalities. The guidelines express that although restriction from competitive athletics may be indicated for some, the majority of individuals with CHD can and should engage in some form of physical activity. This case study demonstrates the importance of combining all aspects of history, physical examination, ECG, and imaging modalities to evaluate cardiac anatomy and function in young athletes with complex CHD. © 2017, Wiley Periodicals, Inc.

Congenital portosystemic venous connections and other abdominal venous abnormalities in patients with polysplenia and functionally univentricular heart disease: a case series and literature review.

Science.gov (United States)

McElhinney, Doff B; Marx, Gerald R; Newburger, Jane W

2011-01-01

Published case reports suggest that congenital portosystemic venous connections (PSVC) and other abdominal venous anomalies may be relatively frequent and potentially important in patients with polysplenia syndrome. Our objective was to investigate the frequency and range of portal and other abdominal systemic venous anomalies in patients with polysplenia and inferior vena cava (IVC) interruption who underwent a cavopulmonary anastomosis procedure at our center, and to review the published literature on this topic and the potential clinical importance of such anomalies. Retrospective cohort study and literature review were used. Among 77 patients with heterotaxy, univentricular heart disease, and IVC interruption who underwent a bidirectional Glenn and/or modified Fontan procedure, pulmonary arteriovenous malformations were diagnosed in 33 (43%). Bilateral superior vena cavas were present in 42 patients (55%). Despite inadequate imaging in many patients, a partial PSVC, dual IVCs, and/or renal vein anomalies were detected in 15 patients (19%). A PSVC formed by a tortuous vessel running from the systemic venous system to the extrahepatic portal vein was found in six patients (8%). Abdominal venous anomalies other than PSVC were documented in 13 patients (16%), including nine (12%) with some form of duplicated IVC system, with a large azygous vein continuing to the superior vena cava and a parallel, contralateral IVC of similar or smaller size, and seven with renal vein anomalies. In patients with a partial PSVC or a duplicate IVC that connected to the atrium, the abnormal connection allowed right-to-left shunting. PSVC and other abdominal venous anomalies may be clinically important but under-recognized in patients with IVC interruption and univentricular heart disease. In such patients, preoperative evaluation of the abdominal systemic venous system may be valuable. More data are necessary to determine whether there is a pathophysiologic connection between the

Screening for congenital heart malformations in child health centres

OpenAIRE

Juttmann, Rikard

1999-01-01

textabstractThe objective of this thesis is to clarify the effectiveness and the efficiency of screening for congenital heart malformations in Dutch child health centres and the possibilities to optimise this prevention programme. To this end the following main questions will be addressed. 1. Does screening for congenital heart malformations, as actually performed in Dutch child health centres, prevent adverse outcomes of these disorders in the short and long run? What would be the answer to ...

Tracheostomy After Operations for Congenital Heart Disease: An Analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database.

Science.gov (United States)

Mastropietro, Christopher W; Benneyworth, Brian D; Turrentine, Mark; Wallace, Amelia S; Hornik, Christoph P; Jacobs, Jeffrey P; Jacobs, Marshall L

2016-06-01

Information concerning tracheostomy after operations for congenital heart disease has come primarily from single-center reports. We aimed to describe the epidemiology and outcomes associated with postoperative tracheostomy in a multi-institutional registry. The Society of Thoracic Surgeons Congenital Heart Database (2000 to 2014) was queried for all index operations with the adverse event "postoperative tracheostomy" or "respiratory failure, requiring tracheostomy." Patients with preoperative tracheostomy or weighing less than 2.5 kg undergoing isolated closure of patent ductus arteriosus were excluded. Trends in tracheostomy incidence over time from January 2000 to June 2014 were analyzed with a Cochran-Armitage test. The patient characteristics associated with operative mortality were analyzed for January 2010 to June 2014, including deaths occurring up to 6 months after transfer of patients to long-term care facilities. From 2000 to 2014, the incidence of tracheostomy after operations for congenital heart disease increased from 0.11% in 2000 to a high of 0.76% in 2012 (p tracheostomy. The median age at operation was 2.5 months (25th, 75th percentile: 0.4, 7). Prematurity (n = 165, 26%), genetic abnormalities (n = 298, 46%), and preoperative mechanical ventilation (n = 275, 43%) were common. Postoperative adverse events were also common, including cardiac arrest (n = 131, 20%), extracorporeal support (n = 87, 13%), phrenic or laryngeal nerve injury (n = 114, 18%), and neurologic deficit (n = 51, 8%). The operative mortality was 25% (n = 153). Tracheostomy as an adverse event of operations for congenital heart disease remains rare but has been increasingly used over the past 15 years. This trend and the considerable mortality risk among patients requiring postoperative tracheostomy support the need for further research in this complex population. Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Significance of MR imaging in congenital heart disease

International Nuclear Information System (INIS)

Mayr, H.; Globits, S.; Frank, H.; Glogar, D.; Nouhold, A.; Imhof, H.

1989-01-01

To determine the diagnostic impact of MR imaging in congenital heart disease, the authors used a 0.5- or 1.5-T magnet to examine 85 patients. Multisection spin-echo images were obtained in three planes. Diagnoses included atrial septal defect, trilogy and tetralogy of Fallot, ventricular septal defect, transposition (seven), single ventricle, and other complex disorders. Compared with other noninvasive techniques, MR imaging allowed a much better visualization of anatomic structures and the relationship of great vessels to shunt lesions in complex congenital heart disease. In 53 (63%) of 85 patients, MR imaging made a major contribution to establishing or modifying diagnoses

Surgical Management and Outcomes of Ebstein Anomaly in Neonates and Infants: A Society of Thoracic Surgeons Congenital Heart Surgery Database Analysis.

Science.gov (United States)

Holst, Kimberly A; Dearani, Joseph A; Said, Sameh M; Davies, Ryan R; Pizarro, Christian; Knott-Craig, Christopher; Kumar, T K Susheel; Starnes, Vaughn; Kumar, S Ram; Pasquali, Sara K; Thibault, Dylan P; Meza, James M; Hill, Kevin D; Chiswell, Karen; Jacobs, Jeffrey P; Jacobs, Marshall L

2018-05-16

Ebstein anomaly (EA) encompasses a broad spectrum of morphology and clinical presentation. Those who are symptomatic early in infancy are generally at highest risk, but there are limited data regarding multi-centric practice patterns and outcomes. We analyzed multi-institutional data concerning operations and outcomes in neonates and infants with EA. Index operations reported in the STS Congenital Heart Surgery Database (2010-2016) were potentially eligible for inclusion. Analysis was limited to patients with diagnosis of Ebstein anomaly and less than 1 year of age at time of surgery (neonates ≤30 days, infants 31-365 days). The study population included 255 neonates and 239 infants (at 95 centers). Among neonates, median age at operation was 7 days (IQR 4-13) and the majority required preoperative ventilation (61.6%, 157). The most common primary operation performed among neonates was Ebstein repair (39.6%, 101) followed by systemic to pulmonary shunt (20.4%, 52) and tricuspid valve closure (9.4%, 24). Overall neonatal operative mortality was 27.4% (70) with composite morbidity-mortality of 51.4% (48). For infants, median age at operation was 179 days (6 months); the most common primary operation for infants was superior cavopulmonary anastomosis (38.1%, 91) followed by Ebstein repair (15.5%, 37). Overall operative mortality for infants was 9.2% (22) with composite morbidity-mortality of 20.1% (48). Symptomatic EA in early infancy is very high risk and a variety of operative procedures were performed. A dedicated prospective study is required to more fully understand optimal selection of treatment pathways to guide a systematic approach to operative management. Copyright © 2018. Published by Elsevier Inc.

Risk factors for congenital anomalies in high risk pregnant women: A ...

African Journals Online (AJOL)

Tella Sunitha

2016-05-14

May 14, 2016 ... genital malformations cannot be linked to a specific cause. BOH implies ... results were interpreted on the basis of Immune Status Ratio. (ISR) index ... lar System disorders [atrial and ventricular septal defects, pericardial .... Family H/o congenital anomalies/mental retardation/genetic diseases. Yes. 36(10).

White matter injury in newborns with congenital heart disease: a diffusion tensor imaging study.

Science.gov (United States)

Mulkey, Sarah B; Ou, Xiawei; Ramakrishnaiah, Raghu H; Glasier, Charles M; Swearingen, Christopher J; Melguizo, Maria S; Yap, Vivien L; Schmitz, Michael L; Bhutta, Adnan T

2014-09-01

Brain injury is observed on cranial magnetic resonance imaging preoperatively in up to 50% of newborns with congenital heart disease. Newer imaging techniques such as diffusion tensor imaging provide sensitive measures of the white matter integrity. The objective of this study was to evaluate the diffusion tensor imaging analysis technique of tract-based spatial statistics in newborns with congenital heart disease. Term newborns with congenital heart disease who would require surgery at less than 1 month of age were prospectively enrolled (n = 19). Infants underwent preoperative and postoperative brain magnetic resonance imaging with diffusion tensor imaging. Tract-based spatial statistics, an objective whole-brain diffusion tensor imaging analysis technique, was used to determine differences in white matter fractional anisotropy between infant groups. Term control infants were also compared with congenital heart disease infants. Postmenstrual age was equivalent between congenital heart disease infant groups and between congenital heart disease and control infants. Ten infants had preoperative brain injury, either infarct or white matter injury, by conventional brain magnetic resonance imaging. The technique of tract-based spatial statistics showed significantly lower fractional anisotropy (P tensor imaging analysis technique that may have better sensitivity in detecting white matter injury compared with conventional brain magnetic resonance imaging in term newborns with congenital heart disease. Copyright © 2014 Elsevier Inc. All rights reserved.

Genetics of Congenital Heart Malformations: Clinical and Molecular Studies

NARCIS (Netherlands)

M.W. Wessels (Marja)

2009-01-01

markdownabstract__Abstract__ Congenital heart malformations (CHM) are among the most common congenital defects, occurring in 8 out of 1000 live-births. In the past decade significant progress has been made in the identification of genes implicated in the signaling pathways involved in

Patterns of congenital bony spinal deformity and associated neural anomalies on X-ray and magnetic resonance imaging

OpenAIRE

Trenga, Anthony P.; Singla, Anuj; Feger, Mark A.; Abel, Mark F.

2016-01-01

Purpose Congenital malformations of the bony vertebral column are often accompanied by spinal cord anomalies; these observations have been reinforced with the use of magnetic resonance imaging (MRI). We hypothesized that the incidence of cord anomalies will increase as the number and complexity of bony vertebral abnormalities increases. Methods All patients aged ?13 years (n?=?75) presenting to the pediatric spine clinic from 2003?2013 with congenital bony spinal deformity and both radiograph...

Parental overprotection and heart-focused anxiety in adults with congenital heart disease.

Science.gov (United States)

Ong, Lephuong; Nolan, Robert P; Irvine, Jane; Kovacs, Adrienne H

2011-09-01

The care of adult patients with congenital heart disease (CHD) is challenging from a mental health perspective, as these patients continue to face a variety of biopsychosocial issues that may impact emotional functioning. Despite these issues, there are limited data on the psychosocial functioning of adults with CHD, and there are no data on the impact of parental overprotection on heart-focused anxiety in this patient population. The aim of this study was to examine the relationships between patient recollections of parental overprotection and current heart-focused anxiety in adults with CHD. A cross-sectional sample of 190 adult patients with CHD (51% male; mean age = 32.28, SD = 11.86 years) completed validated measures of perceived parental overprotection (Parental Bonding Instrument) and heart-focused anxiety (Cardiac Anxiety Questionnaire). The results indicated that perceived parental overprotection (β = 0.19, p = 0.02) and heart defect complexity (β = 0.17, p = 0.03) were significantly related to heart-focused anxiety. Contrary to hypotheses, perceived parental overprotection did not vary as a function of heart defect complexity (F (2, 169) = 0.02, p = 0.98). Perceived parental overprotection and heart defect complexity are associated with heart-focused anxiety in adults with congenital heart disease. These results can inform the development of clinical interventions aimed at improving the psychosocial adjustment of this patient population.

Unusual congenital pulmonary anomaly with presumed left lung hypoplasia in a young dog.

Science.gov (United States)

Lee, C M; Kim, J H; Kang, M H; Eom, K D; Park, H M

2014-05-01

A seven-month-old, entire, male miniature schnauzer dog was referred with acute vomiting, inappetence and depression primarily as a result of a gastric foreign body (pine cones). During investigations, thoracic radiographs revealed increased volume of the right lung lobes, deviated cardiomediastinal structures and elevation of the heart from the sternum. Thoracic computed tomography revealed left cranial lung lobe hypoplasia and extension of the right cranial lung parenchyma across the midline to the left hemithorax. Branches of the right pulmonary vessels and bronchi also crossed the midline and extended to the left caudal lung lobe. These findings suggested that the right and left lungs were fused. In humans this finding is consistent with horseshoe lung, which is an uncommon congenital malformation. To the authors' knowledge, this case represents the first report of such a pulmonary anomaly in a dog. © 2014 British Small Animal Veterinary Association.

Nursing diagnoses in children with congenital heart disease: a survival analysis.

Science.gov (United States)

Martins da Silva, Viviane; Lopes, Marcos Venícios de Oliveira; Leite de Araujo, Thelma

2007-01-01

To analyze the relationship between nursing diagnoses and survival rates in children with congenital heart disease. A total of 270 observations were carried out in 45 children with congenital heart disease who were followed for 15 days. Differences in mean survival times were identified in children not more than 4 months of age with respect to the following diagnoses: impaired gas exchange, ineffective breathing pattern, activity intolerance, delayed growth and development, and decreased cardiac output. The main diagnoses are identified early in the hospitalization period and are conditions resulting from hemodynamic alterations and prescribed medical treatment. Congenital heart disease provokes serious hemodynamic alterations that generate human responses, which should be treated proactively.

Radiological Diagnosis of Recirculatory Congenital Heart Disease with Increased Pulmonary Blood Flow

International Nuclear Information System (INIS)

Bartusevichiene, A.; Rulevichius, A.; Dobrovolskis, K.R.

1995-01-01

The number of patients with congenital diseases is increasing therefore early diagnosis of these diseases is of crucial importance. Radiological diagnostics of recirculatory congenital heart disease with increased pulmonary blood flow, i.e. atrial septal defect (ASD), ventricle septal defect (VSD), ductus arteriosus (Botalli) persistence (DAP) and atrioventricular communication (AVC) have been analysed. Recirculatory congenital heart disease with increased pulmonary blood flow (ASD, VSD, DAP)radiologically causes similar lung, lung roots and pulmonary arterial changes. After the radiomorphological and radiofunctional examination of chest organs the following symptoms of the disease were defined: all the patients had hypervolemy, enlarged structural lungs roots, enlarged pulmonary arterial arch. These radiofunctional symptoms help to differentiate congenital heart diseases case by case. (author). 7 refs., 6 figs., 1 tab

Radionuclide angiocardiography in the diagnosis of congenital heart disorders

International Nuclear Information System (INIS)

Jones, R.H.; Austin, E.H.; Peter, C.A.; Sabiston, D.C. Jr.

1981-01-01

Radionuclide angiocardiography provides a noninvasive assessment of cardiac function and blood flow through the heart and lungs. During the past three years, this procedure has been used at the Duke University Medical Center for evaluation of 343 patients with congenital heart disorders. A review of this experience shows tat the resulting data were frequently useful in the surgical management of these patients. In patients with abnormal blood flow patterns, noninvasive imaging of blood flow was useful before and after operative correction. Radionuclide measurements of left-to-right intracardiac shunts were sufficiently accurate for use in the initial evaluation of patients with murmurs and to document the absence of shunt after operative closure of intracardiac septal defects. Moreover, measurements of right-to-left cardiac shunts were of benefit in the management of children with cyanotic heart disease. Measurements of left ventricular function obtained during rest and exercise were most useful in patients with origin of the left coronary artery from the pulmonary artery and in patients with congenital valvular insufficiency. This experience demonstrates that radionuclide angiocardiography provides important measurements of central hemodynamics and cardiac function which are useful in the management of patients with congenital heart disorders

False Heart Rate Feedback and the Perception of Heart Symptoms in Patients with Congenital Heart Disease and Anxiety

NARCIS (Netherlands)

Karsdorp, Petra A.; Kindt, Merel; Rietveld, Simon; Everaerd, Walter; Mulder, Barbara J. M.

2009-01-01

Background Little is known about the mechanisms explaining an increased perception of heart symptoms in congenital heart disease (ConHD). In the present study, it was suggested that a combination of high trait anxiety and disease history increases the perception of heart symptoms. Purpose It was

False heart rate feedback and the perception of heart symptoms in patients with congenital heart disease and anxiety

NARCIS (Netherlands)

Karsdorp, P.A.; Kindt, M.; Rietveld, S.; Everaerd, W.; Mulder, B.J.M.

2009-01-01

Background: Little is known about the mechanisms explaining an increased perception of heart symptoms in congenital heart disease (ConHD). In the present study, it was suggested that a combination of high trait anxiety and disease history increases the perception of heart symptoms. Purpose: It was

Hematologic Abnormalities in Cyanotic Congenital Heart Disease Patients

Directory of Open Access Journals (Sweden)

Soheila Chamanian

2015-01-01

Full Text Available Introduction: Patients with cyanotic heart disease may have an acceptable quality of life. However, they are invariably prone to several complications. The aim of this study is search about hematologic abnormalities in cyanotic congenital heart disease patients. Materials and Methods:  In this cross sectional study every cyanotic congenital heart disease patients who was referred to the adult congenital heart disease clinic was selected and asked of any possible hyperviscosity symptoms, gingival bleeding, Epistaxis, hemoptysis, hypermenorrhagia and gouty arthritis irrespective of their age, gender and primary diagnosis in a six-month period. In this regard, 02 saturation was obtained via pulse oximetry, an abdominal ultrasound was done in order to discover any gallstones and lab tests including CBC, coagulation parameters (bleeding time(BT,clotting time(CT, prothrombin time(PT,international ratio( INR, Ferritin, blood urea nitrogen (BUN and creatinine (Cr were provided as well. Results:  A total of 69 patients were enrolled in the present study. The mean age of the patients was 22.44±5.72 with a minimum of 15 and the maximum of 46 years old. Twenty two (34.4% of them were female and 45(65.6% were male. Conclusion: Our patients had less hyperuricemia, there is no correlation between hyperviscosity symptoms and haematocrit level and an inverse correlation between the Ferritin level and hyperviscosity symptoms were seen.  

Frequency of Congenital Heart Diseases in Prelingual Sensory-Neural Deaf Children

Directory of Open Access Journals (Sweden)

Masoud Motasaddi Zarandy

2016-03-01

Full Text Available Introduction: Hearing impairment is the most frequent sensorial congenital defect in newborns and has increased to 2–4 cases per 1,000 live births. Sensory-neural hearing loss (SNHL accounts for more than 90% of all hearing loss. This disorder is associated with other congenital disorders such as renal, skeletal, ocular, and cardiac disorders. Given that congenital heart diseases are life-threatening, we decided to study the frequency of congenital heart diseases in children with congenital sensory-neural deafness.  Materials and Methods: All children who had undergone cochlear implantation surgery due to SNHL and who had attended our hospital for speech therapy during 2008–2011 were evaluated by Doppler echocardiography.  Results: Thirty-one children (15 boys and 16 girls with a mean age of 55.70 months were examined, and underwent electrocardiography (ECG and echocardiography. None of the children had any signs of heart problems in their medical records. Most of their heart examinations were normal, one patient had expiratory wheeze, four (12% had mid-systolic click, and four (12% had an intensified S1 sound. In echocardiography, 15 children (46% had mitral valve prolapse (MVP and two (6% had minimal mitral regurgitation (MR. Mean ejection fraction (EF was 69% and the mean fractional shortening (FS was 38%.  Conclusion:  This study indicates the need for echocardiography and heart examinations in children with SNHL.

The application of transcatheter closure procedure in congenital heart diseases

International Nuclear Information System (INIS)

Guo Haoxue; Liu Shuyong; Jiang Rutong; Bai Hongcan; Wang Yanwei; Du Yuying; Yang Qiaoji; Qin Yongwen

2003-01-01

Objective: To explore and evaluate the value of transcatheter closure procedure in congenital heart diseases. Methods: Transcatheter closure was performed in 12 patients with congenital heart diseases including 6 ventricular septal defect (VSD), 4 atrial septal defect (ASD), 2 patent ductus arteriosus (PDA), by the Amplatzer occlusion device under local or general anesthesia. Results: The procedure was successful in all patients outcoming with the disappearance of cardiac murmur. All of them could get out of the bed within 6 to 12 hours postoperatively, and were discharged from hospital after 4 to 6 days. Conclusions: Transcatheter treatment of congenital cardiac defects by Amplatzer occlusion device is less traumatic, with good effect, simultaneously

The application of transcatheter closure procedure in congenital heart diseases

Energy Technology Data Exchange (ETDEWEB)

Haoxue, Guo; Shuyong, Liu; Rutong, Jiang; Hongcan, Bai; Yanwei, Wang; Yuying, Du; Qiaoji, Yang; Yongwen, Qin [Henan Provincial Corps Hospital, Chinese People' s Police Forces, Zhengzhou (China). Dept. of Surgery

2003-10-01

Objective: To explore and evaluate the value of transcatheter closure procedure in congenital heart diseases. Methods: Transcatheter closure was performed in 12 patients with congenital heart diseases including 6 ventricular septal defect (VSD), 4 atrial septal defect (ASD), 2 patent ductus arteriosus (PDA), by the Amplatzer occlusion device under local or general anesthesia. Results: The procedure was successful in all patients outcoming with the disappearance of cardiac murmur. All of them could get out of the bed within 6 to 12 hours postoperatively, and were discharged from hospital after 4 to 6 days. Conclusions: Transcatheter treatment of congenital cardiac defects by Amplatzer occlusion device is less traumatic, with good effect, simultaneously.

Medico-legal aspects of congenital heart diseases in buying and selling of pets

Directory of Open Access Journals (Sweden)

Annamaria Passantino

2017-01-01

Full Text Available Aim: The veterinarian should be able to assess congenital and inherited malformations such as heart defects because they may be object of legal disputes. In this study, the authors report some cases of congenital heart defects in pets (dogs and cats to clarify whether or not they may be considered a redhibitory defect. Materials and Methods: A total of 28 medical records of pets referred with suspected congenital heart disease were examined. All patients aged between 3 and 24 months underwent clinical examination, chest X-ray examination, electrocardiogram, and echocardiography and angiocardiography when necessary. Results: Congenital heart diseases or associated cardiac malformations were confirmed. Considering the above congenital diseases as redhibitory defect and the rights of the owners from a strictly legal viewpoint, 9 owners demanded an estimatory action and 11 a redhibitory action; 1 owner decided to demand the reimbursement of veterinary expenses because the animal died; 7 owners took no legal action but requested surgical intervention. Conclusions: Until more appropriate and detailed legislation on the buying and selling of pet animals is put in place; the authors propose to include in the contract a temporal extension of the guarantee relating to congenital heart disease, which can often become evident later.

Visibility of the origin and proximal course of coronary arteries on non-ECG-gated heart CT in patients with congenital heart disease

International Nuclear Information System (INIS)

Goo, Hyun Woo; Park, In-Sook; Ko, Jae Kon; Kim, Young Hwee; Seo, Dong-Man; Yun, Tae-Jin; Park, Jeong-Jun

2005-01-01

There is little information on the ability of non-ECG-gated cardiac CT to demonstrate the coronary arteries of children. To evaluate the visibility of the origin and proximal course of coronary arteries on non-ECG-gated cardiac CT, in which the coronary artery was not of primary diagnostic concern, in children with congenital heart disease. From December 2002 to March 2004, 126 cardiac CT examinations from 104 children (median age 11 months; age range 1 day to 15 years) were evaluated. All patients had ventriculo-arterial concordance and no malformations of the great arteries; those with coronary artery anomalies were excluded. Contrast-enhanced 16-slice spiral CT was performed without ECG-gating and multiplanar images for coronary arteries were obtained. The visibility of coronary artery origins was graded on a three-point scale, while nine segments of the arteries were graded on a four-point scale. CT images in which it was possible to trace the coronary arteries were considered diagnostic. The visibility of each whole coronary artery and the origins and proximal four segments of coronary arteries were calculated. The visibility of coronary arteries was also correlated with patient age. The percentage of CT images of diagnostic quality was 49.3% for the whole coronary artery and 81.7% for the origins and proximal four segments. There was a significant positive correlation between the visibility of coronary arteries and age. Non-ECG-gated cardiac CT, in which the coronary artery is not of primary diagnostic concern, is frequently able to visualize the origin and proximal course of coronary arteries and may be helpful in detecting coronary artery anomalies in children with congenital heart disease. (orig.)

Ventricular assist device use in single ventricle congenital heart disease.

Science.gov (United States)

Carlo, Waldemar F; Villa, Chet R; Lal, Ashwin K; Morales, David L

2017-11-01

As VAD have become an effective therapy for end-stage heart failure, their application in congenital heart disease has increased. Single ventricle congenital heart disease introduces unique physiologic challenges for VAD use. However, with regard to the mixed clinical results presented within this review, we suggest that patient selection, timing of implant, and center experience are all important contributors to outcome. This review focuses on the published experience of VAD use in single ventricle patients and details physiologic challenges and novel approaches in this growing pediatric and adult population. © 2017 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

Use of asthma medication during pregnancy and risk of specific congenital anomalies

DEFF Research Database (Denmark)

Garne, Ester; Hansen, Anne Vinkel; Morris, Joan

2015-01-01

BACKGROUND: Pregnant women with asthma need to take medication during pregnancy. OBJECTIVE: We sought to identify whether there is an increased risk of specific congenital anomalies after exposure to antiasthma medication in the first trimester of pregnancy. METHODS: We performed a population-bas...

Cerebral oxygen delivery is reduced in newborns with congenital heart disease.

Science.gov (United States)

Lim, Jessie Mei; Kingdom, Theodore; Saini, Brahmdeep; Chau, Vann; Post, Martin; Blaser, Susan; Macgowan, Christopher; Miller, Steven P; Seed, Mike

2016-10-01

To investigate preoperative cerebral hemodynamics in newborns with congenital heart disease. We hypothesized that cerebral blood flow and oxygen delivery would be decreased in newborns with congenital heart disease compared with controls. Using a "feed-and-sleep" approach to performing neonatal magnetic resonance imaging, we measured cerebral blood flow by using a slice prescription perpendicular to the right and left internal carotid arteries and basilar artery at the level of the clivus. We calculated brain volume by segmenting a 3-dimensional steady-state free procession acquisition of the whole brain, allowing quantification of cerebral blood flow indexed to brain volume. Cerebral oxygen delivery was calculated as the product of cerebral blood flow and preductal systemic arterial oxygen content obtained via a combination of conventional pulse oximetry and laboratory analysis of venous blood samples for hemoglobin concentration. A complete set of measurements were obtained in 32 newborns with heart disease and 31 controls. There was no difference in gestational age between the heart disease and control groups. There was no difference in cerebral blood flow compared with controls (103.5 ± 34.0 vs 119.7 ± 40.4 mL/min), whereas cerebral oxygen delivery was significantly lower in the congenital heart disease subjects (1881 ± 625.7 vs 2712 ± 915.7 mLO2/min). Ten newborns with congenital heart disease had diffuse excessive high signal intensity in their white matter and 2 had white matter injury whereas another 5 had both. Newborns with unrepaired cyanotic congenital heart disease have decreased cerebral oxygen delivery due to arterial desaturation. If brain growth and development are adversely affected through oxygen conformance, our findings could have clinical implications in terms of timing of surgical repair. Copyright © 2016 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

RSV prophylaxis guideline changes and outcomes in children with congenital heart disease.

Science.gov (United States)

Walpert, Adam S; Thomas, Ian D; Lowe, Merlin C; Seckeler, Michael D

2018-02-13

The aim of this study was to compare inpatient outcomes and costs for children with respiratory syncytial virus and congenital heart disease before and after the change in management guidelines for respiratory syncytial virus prophylaxis. Hospital discharge data from the Vizient (formerly University HealthSystem Consortium) were queried from October 2012 to June 2014 (Era 1) and July 2014 to April 2016 (Era 2) for patients aged Disease (ICD)-9 or ICD-10 code for congenital heart disease (745-747.49, Q20.0-Q26.4) and a primary or secondary admitting diagnosis of respiratory syncytial virus infection (079.6, J20.5), acute bronchiolitis due to respiratory syncytial virus (466.11, J21.0) or respiratory syncytial virus pneumonia (480.1, J12.1). This study is a review of a national administrative discharge database. Respiratory syncytial virus admissions were identified in 1269 patients aged congenital heart disease, with 644 patients in Era 1 and 625 in Era 2. Patients 0-12 months old represented 83% of admissions. Prior to 2014, children aged 0-24 months with congenital heart disease were eligible to receive respiratory syncytial virus prophylaxis. Updated guidelines, published in 2014, restricted the recommendation to administer palivizumab respiratory syncytial virus prophylaxis to children with congenital heart disease only if they are ≤12 months old. The outcome measures are hospital length of stay, ICU admission rate, mortality, and direct costs. There was no change in length of stay, ICU admission rate, in-hospital mortality, or direct costs for children 13-24 months old with congenital heart disease after the change in guidelines. There were no deaths in 13-24 month olds, regardless of era. Our findings provide additional support for the new guideline recommendations to provide respiratory syncytial virus prophylaxis only for children ≤12 months old with congenital heart disease. © 2018 Wiley Periodicals, Inc.

Regional Variations in the Prevalence of Major Congenital Malformations in Quebec: The Importance of Fetal Growth Environment.

Science.gov (United States)

Zhao, Jin-Ping; Sheehy, Odile; Bérard, Anick

2015-01-01

Congenital anomalies are the consequence of a complex interaction between genetic predisposition and fetal environment. Based on the Congenital Anomalies Surveillance in Canada Report, between 1998 and 2007 the rate of congenital heart defects in Quebec was significantly higher than the Canadian average; no data on the overall prevalence of congenital anomalies for Quebec or data on regional variations in any province are available. To estimate the prevalence of major congenital malformations (MCMs) in all of the 17 administrative regions of Quebec. Using data from the Quebec Pregnancy Cohort, we included infants if they were born between January 1, 1998 and December 31, 2008. MCMs were identified within the infant's first year of life using validated ICD-9 and ICD-10 codes. The rate of MCMs was calculated and stratified on Quebec's administrative regions. Among 152,353 eligible infants, the prevalence of MCMs was 36.6 (all rates were reported as per 1,000 live births). The regions with the highest rate of MCMs were Lanaudière (48.1), Laval (45.8), and Mauricie (45.1). Regions with the lowest rate were Outaouais (13.4), Côte-Nord (19.1), Abitibi-Témiscamingue (27.5), Gaspésie-îles-de-la-Madeleine (27.9), and Saguenay-Lac-Saint-Jean (28.9). Congenital heart defects (10.3) and musculoskeletal anomalies (12.6) were the most common. Laval had the highest rate of heart defects (16.1), and Lanaudière had the highest rate of musculoskeletal anomalies (22.0). The central regions of Quebec had high rate of MCMs, whereas the relatively genetically homogenous peripheral regions of Quebec had lower rate of MCM, suggesting the importance of fetal growth environment in the etiology of MCMs in Quebec.

Outcome after prenatal diagnosis of congenital anomalies of the kidney and urinary tract.

Science.gov (United States)

Nef, Samuel; Neuhaus, Thomas J; Spartà, Giuseppina; Weitz, Marcus; Buder, Kathrin; Wisser, Josef; Gobet, Rita; Willi, Ulrich; Laube, Guido F

2016-05-01

Congenital anomalies of the kidney and urinary tract are common findings on fetal ultrasound. The aim of this prospective observational study was to describe outcome and risk factors in 115 patients born 1995-2001. All prenatally diagnosed children were stratified into low- and high-risk group and followed postnatally clinically and by imaging at defined endpoints. Risk factors were evaluated using odds ratios. Neonatal diagnosis included pelvi-ureteric junction obstruction (n = 33), vesicoureteral reflux (n = 27), solitary mild pelvic dilatation (postnatal anteroposterior diameter 5-10 mm; n = 25), and further diagnosis as primary obstructive megaureter, unilateral multicystic dysplastic kidney, renal dysplasia and posterior urethral valves. In 38 children with prenatal isolated hydronephrosis, ultrasound normalized at median age of 1.2 years (range 0.1-9). Surgery was performed in 34 children at median age of 0.4 years (0.1-10.8). Persistent renal anomalies without surgery were present in 43 children and followed in 36 for median time of 16 years (12.2-18). Oligohydramnios and postnatal bilateral anomalies were significantly associated with surgery and impaired renal function. The majority of children had a favourable postnatal outcome, in particular children with prenatally low risk, i.e. isolated uni- or bilateral hydronephrosis. Oligohydramnios and postnatal bilateral anomalies were risk factors for non-favourable outcome. • In congenital anomalies of the kidney and urinary tract significantly poorer outcome is known in patients with bilateral renal hypoplasia or solitary kidney associated with posterior urethral valves. • Other factors as proteinuria and vesicoureteral reflux were associated with a higher risk of progression to chronic renal failure in these patients. What is New: • Unlike other studies giving us above-mentioned information, we included all patients with any kind of prenatally diagnosed congenital anomalies of the kidney

Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

Directory of Open Access Journals (Sweden)

Kristen N Stevens

Full Text Available Congenital heart disease (CHD is the most common birth abnormality and the etiology is unknown in the overwhelming majority of cases. ISLET1 (ISL1 is a transcription factor that marks cardiac progenitor cells and generates diverse multipotent cardiovascular cell lineages. The fundamental role of ISL1 in cardiac morphogenesis makes this an exceptional candidate gene to consider as a cause of complex congenital heart disease. We evaluated whether genetic variation in ISL1 fits the common variant-common disease hypothesis. A 2-stage case-control study examined 27 polymorphisms mapping to the ISL1 locus in 300 patients with complex congenital heart disease and 2,201 healthy pediatric controls. Eight genic and flanking ISL1 SNPs were significantly associated with complex congenital heart disease. A replication study analyzed these candidate SNPs in 1,044 new cases and 3,934 independent controls and confirmed that genetic variation in ISL1 is associated with risk of non-syndromic congenital heart disease. Our results demonstrate that two different ISL1 haplotypes contribute to risk of CHD in white and black/African American populations.

Early life environment and social determinants of cardiac health in children with congenital heart disease.

Science.gov (United States)

Wong, Peter; Denburg, Avram; Dave, Malini; Levin, Leo; Morinis, Julia Orkin; Suleman, Shazeen; Wong, Jonathan; Ford-Jones, Elizabeth; Moore, Aideen M

2018-04-01

Congenital heart disease is a significant cause of infant mortality. Epidemiology and social context play a crucial role in conditioning disease burden and modulating outcomes, while diagnosis and treatment remain resource intensive. This review will address the role of social demographics, environmental exposure, epigenetics and nutrition in the aetiology of congenital heart disease. We then discuss the determinant effect of social factors on the provision and outcomes of care for congenital heart disease and implications for practice. It is our hope that enhanced knowledge of the intersection of social determinants of health and congenital heart disease will facilitate effective preventative strategies at the individual and population levels to optimize heart health outcomes across the life course.

Prevalence of Dyslipidemia in Children with Congenital Heart Disease

International Nuclear Information System (INIS)

Fuenmayor, Gabriela; Redondo, Ana Carolina Costa; Shiraishi, Karen Saori; Souza, Rogerio; Elias, Patrícia Figueiredo; Jatene, Ieda Biscegli

2013-01-01

Dyslipidemia is one of the main risk factors associated with cardiovascular diseases. Few data on the impacts of congenital heart diseases are available with regard to the prevalence of dyslipidemia in children. Our study evaluated the lipid profile in children with congenital heart disease at a referral center. From January 2011 to July 2012, 52 pediatric patients had their lipid, metabolic and clinical profiles traced. The mean age was 10.4 ± 2.8 years and male/female rate of 1.38:1. Our population had 53.8% patients with high levels of total cholesterol and 13.4% (CI 95 %, from 6.6 to 25.2%) of them also presenting LDL levels ≥ 130 mg/dL, which characterizes dyslipidemia. The group of dyslipidemic patients presented only two obese individuals. Our data show that the presence of congenital heart disease does not lead to higher risk associated with the prevalence of dyslipidemia. Therefore, the screening of this specific population should follow the regular pediatric guidelines, which are also independent of the nutritional status of the children tested

Prevalence of Dyslipidemia in Children with Congenital Heart Disease

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Fuenmayor, Gabriela; Redondo, Ana Carolina Costa; Shiraishi, Karen Saori [Hospital do Coração - Associação do Sanatório Sírio, São Paulo, SP (Brazil); Souza, Rogerio [Hospital do Coração - Associação do Sanatório Sírio, São Paulo, SP (Brazil); Instituto do Coração, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP (Brazil); Elias, Patrícia Figueiredo; Jatene, Ieda Biscegli, E-mail: ijatene@hcor.com.br [Hospital do Coração - Associação do Sanatório Sírio, São Paulo, SP (Brazil)

2013-09-15

Dyslipidemia is one of the main risk factors associated with cardiovascular diseases. Few data on the impacts of congenital heart diseases are available with regard to the prevalence of dyslipidemia in children. Our study evaluated the lipid profile in children with congenital heart disease at a referral center. From January 2011 to July 2012, 52 pediatric patients had their lipid, metabolic and clinical profiles traced. The mean age was 10.4 ± 2.8 years and male/female rate of 1.38:1. Our population had 53.8% patients with high levels of total cholesterol and 13.4% (CI 95 %, from 6.6 to 25.2%) of them also presenting LDL levels ≥ 130 mg/dL, which characterizes dyslipidemia. The group of dyslipidemic patients presented only two obese individuals. Our data show that the presence of congenital heart disease does not lead to higher risk associated with the prevalence of dyslipidemia. Therefore, the screening of this specific population should follow the regular pediatric guidelines, which are also independent of the nutritional status of the children tested.

Trauma due to Self-aggression in Patient with Waardenburg Syndrome associated with Congenital Anomalies.

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Marta, Sara Nader; Kawakami, Roberto Yoshio; Sgavioli, Claudia Almeida Prado Piccino; Correa, Ana Eliza; D'Árk de Oliveira El Kadre, Guaniara; Carvalho, Ricardo Sandri

2016-08-01

Waardenburg syndrome (WS) is an inherited autosomal dominant genetic disorder presenting variable penetrance and expressivity, with an estimated prevalence of 1:42,000. Clinical characteristics of WS include lateral displacement of the internal eye canthus, hyperplasia of the medial portion of the eyebrows, prominent and broad nasal base, congenital deafness, pigmentation of the iris and skin, and white forelock. A 24-year-old male patient, previously diagnosed with WS, was referred to the Special Needs Dental Clinic of Sacred Heart University, Bauru, Brazil. Parents reported that the patient was experiencing self-mutilation, particularly in the oral region. He presented multiple congenital anomalies, including anophthalmia, mental retardation, low-set ears, and leg deformities. Clinical oral examination revealed hypodontia, abnormalities in dental morphology, extensive dental caries, periodontal disease, and fistulae. Extensive scars on the tongue, lips, and hands caused by self-mutilation were also observed. In accordance with his family and neurologist, full-mouth extraction under general anesthesia was performed, especially considering his severe self-aggressive behavior and the necessity to be fed with soft-food diet due to his inability to chew. After the surgical procedure, a significant reduction in the patient's irritability and gain of weight were reported in the follow-ups of 30, 60, and 180 days.

Outcome after cardiopulmonary resuscitation in patients with congenital heart disease.

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Van Puyvelde, Tim; Ameloot, Koen; Roggen, Mieke; Troost, Els; Gewillig, Marc; Budts, Werner; Van De Bruaene, Alexander

2017-03-01

Outcome after cardiopulmonary resuscitation (CPR) in patients with underlying congenital heart disease is uncertain. This study aimed at evaluating outcome after CPR in patients with underlying congenital heart disease, factors related to worse outcome after CPR and whether survivors of sudden cardiac death (SCD) have a worse outcome when compared to an age, gender and disease-matched control population. Between 1984 and 2015, all patients with congenital heart disease who received in or out-of-hospital CPR were identified from the database of congenital heart disease from the University Hospitals Leuven. Postoperative and neonatal (CPR was excluded. For each survivor of SCD, two control patients matched for gender, age and underlying heart defect were included in the study. Thirty-eight patients (66% men; median age 25 years (interquartile range 9-40); 68% out-of-hospital) were identified, of which 27 (66%) survived the event. The main cause of SCD was ventricular tachycardia or fibrillation ( n=21). Heart defect complexity (odds ratio (OR) 5.1; 95% confidence interval (CI) 1.2-21.9; P=0.027), pulmonary hypertension (OR 13.8; 95% CI 2.1-89.5; P=0.006) and time to return of spontaneous circulation (OR 1.1; 95% CI 1.0-1.1; P=0.046) were related to worse outcome. Survivors of SCD had a worse prognosis when compared to an age, gender and disease-matched control group (5-year survival 76% vs. 98%; P=0.002). The complexity of underlying heart defect, pulmonary hypertension and time to return of spontaneous circulation are related to worse outcome in the case of CPR. Survivors of SCD have a worse outcome when compared to matched controls, indicating the need for adequate implantable cardioverter defibrillator indication assessment and for stringent follow-up of patients with worsening haemodynamics.

Virtual Surgery in Congenital Heart Disease

DEFF Research Database (Denmark)

Sørensen, Thomas Sangild; Mosegaard, Jesper; Kislinskiy, Stefan

2014-01-01

et al., Cardiol Young 13:451–460, 2003). In combination with the availability of virtual models of congenital heart disease (CHD), techniques for computer- based simulation of cardiac interventions have enabled early clinical exploration of the emerging concept of virtual surgery (Sorensen et al...... Teaching, diagnosing, and planning of therapy in patients with complex structural cardiovascular heart disease require profound understanding of the three-dimensional (3D) nature of cardiovascular structures in these patients. To obtain such understanding, modern imaging modalities provide high...

Increased risk of severe congenital heart defects in offspring exposed to selective serotonin-reuptake inhibitors in early pregnancy

DEFF Research Database (Denmark)

Knudsen, Tanja Majbrit; Hansen, Anne Vinkel; Garne, Ester

2014-01-01

BACKGROUND: Previous studies suggest a possible association between maternal use of selective serotonin-reuptake inhibitors (SSRIs) during early pregnancy and congenital heart defects (CHD). The purpose of this study was to verify this association by using validated data from the Danish EUROCAT...... terminated due to congenital anomalies. The study population consisted of all registered pregnancies (n = 72,280) in Funen, Denmark in the period 1995-2008. SSRI-use was assessed using The Danish National Prescription Registry, information on marital status, maternal educational level, income, and country...... of origin from Statistics Denmark was used as indicators of socioeconomic situation, and the CHD were studied in subgroups defined by EUROCAT. Logistic Regression was used to investigate the association between redeemed prescriptions for SSRIs and CHD. RESULTS: The risk of severe CHD in the offspring...

Congenital anomalies of coronary arteries: Diagnosis with 64 slice multidetector CT

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Tariq, Rukhsana, E-mail: drrukhsanatariq@hotmail.com [Consultant Radiologists, Advanced Radiology Clinic, Behind Hamdard University Hospital, Off M.A. Jinnah Road, Karachi (Pakistan); Kureshi, Shahzad Babar [Consultant Radiologists, Advanced Radiology Clinic, Behind Hamdard University Hospital, Off M.A. Jinnah Road, Karachi (Pakistan); Siddiqui, Usman T. [Medical College, Aga Khan University, Karachi (Pakistan); Ahmed, Rashid [Consultant Radiologists, Advanced Radiology Clinic, Behind Hamdard University Hospital, Off M.A. Jinnah Road, Karachi (Pakistan)

2012-08-15

Objective: Congenital coronary artery anomalies are generally incidental, uncommon and asymptomatic. Some can cause severe potentially life threatening symptoms. The common mode of studying the coronary arteries is Conventional Coronary Angiogram. ECG-gated-multidetector CT is a non invasive modality. The objective of our study was to identify rare congenital coronary artery anomalies and discuss their clinical significance. Material and methods: A total number of 900 MDCT coronary angiograms were carried out at our institution between the period of April 2006 and October 2010. Patients with coronary artery anomaly constituted the subject of study. Results: The incidence of anomalous anatomical origin and course of the coronary arteries in our study was 1.55%. Hemodynamical significance was seen in five patients. 3 cases of single coronary artery originating from right coronary sinus were seen. 1 case of anomalous left coronary artery arising from main pulmonary artery was seen. 4 cases of anomalous RCA arising from left aortic cusp, 6 cases of absent LMCA with separate origin of LAD and LCX were seen. Conclusion: Multidetector row CT is a noninvasive modality in cardiac imaging. It provides superior resolution of coronary tree and its variant. No projectional vascular overlap is seen. Various postprocessing techniques outclass catheter angiography imaging. Definition of ostia and proximal course of the coronary arteries by Multidetector CT is better than catheter angiography.

Congenital anomalies of coronary arteries: Diagnosis with 64 slice multidetector CT

International Nuclear Information System (INIS)

Tariq, Rukhsana; Kureshi, Shahzad Babar; Siddiqui, Usman T.; Ahmed, Rashid

2012-01-01

Objective: Congenital coronary artery anomalies are generally incidental, uncommon and asymptomatic. Some can cause severe potentially life threatening symptoms. The common mode of studying the coronary arteries is Conventional Coronary Angiogram. ECG-gated-multidetector CT is a non invasive modality. The objective of our study was to identify rare congenital coronary artery anomalies and discuss their clinical significance. Material and methods: A total number of 900 MDCT coronary angiograms were carried out at our institution between the period of April 2006 and October 2010. Patients with coronary artery anomaly constituted the subject of study. Results: The incidence of anomalous anatomical origin and course of the coronary arteries in our study was 1.55%. Hemodynamical significance was seen in five patients. 3 cases of single coronary artery originating from right coronary sinus were seen. 1 case of anomalous left coronary artery arising from main pulmonary artery was seen. 4 cases of anomalous RCA arising from left aortic cusp, 6 cases of absent LMCA with separate origin of LAD and LCX were seen. Conclusion: Multidetector row CT is a noninvasive modality in cardiac imaging. It provides superior resolution of coronary tree and its variant. No projectional vascular overlap is seen. Various postprocessing techniques outclass catheter angiography imaging. Definition of ostia and proximal course of the coronary arteries by Multidetector CT is better than catheter angiography.

Mothers and Fathers Experience Stress of Congenital Heart Disease Differently: Recommendations for Pediatric Critical Care.

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Sood, Erica; Karpyn, Allison; Demianczyk, Abigail C; Ryan, Jennie; Delaplane, Emily A; Neely, Trent; Frazier, Aisha H; Kazak, Anne E

2018-03-10

To inform pediatric critical care practice by examining how mothers and fathers experience the stress of caring for a young child with congenital heart disease and use hospital and community supports. Qualitative study of mothers and fathers of young children with congenital heart disease. Tertiary care pediatric hospital in the Mid-Atlantic region of the United States. Thirty-four parents (20 mothers, 14 fathers) from diverse backgrounds whose child previously underwent cardiac surgery during infancy. Subjects participated in semi-structured, individual interviews about their experiences and psychosocial needs at the time of congenital heart disease diagnosis, surgical admission, and discharge to home after surgery. Qualitative interview data were coded, and consistent themes related to emotional states, stressors, and supports were identified. Fathers experience and respond to the stressors and demands of congenital heart disease in unique ways. Fathers often described stress from not being able to protect their child from congenital heart disease and the associated surgeries/pain and from difficulties balancing employment with support for their partner and care of their congenital heart disease child in the hospital. Fathers were more likely than mothers to discuss support from the work environment (coworkers/managers, flexible scheduling, helpful distraction) and were less likely to describe the use of hospital-based resources or congenital heart disease peer-to-peer supports. This study highlights the importance of understanding the paternal experience and tailoring interventions to the unique needs of both mothers and fathers. Opportunities for critical care practice change to promote the mental health of mothers and fathers following a diagnosis of congenital heart disease are discussed.

Horseshoe lung with multiple congenital anomalies

International Nuclear Information System (INIS)

Hawass, N.D.; Badawi, M.G.; Fatani, J.A.; Meshari, A.A.; Edrees, Y.B.

1987-01-01

A detailed radiologic and anatomic study of a 20-week old fetus is presented. In addition to conventional radiography, various contrast medium injection techniques were used. The findings were followed up at autopsy. The fetus showed multiple congenital abnormalities comprising phocomelia, horseshoe lung, horseshoe kidney, urethral stenosis with megacystis, bilateral hydronephrosis, hydroureters, imperforate anus, and a single tracheo-esophageal tube (persistent esophago-trachea). The association of horseshoe lung with persistent esophago-trachea, microurethra, megacystis, bilateral hydroureters, hydronephrosis and phocomelia is, we believe, the first ever to have been recorded in the literature. Twenty-one cases of horseshoe lung have been reported in the literature. These cases were reviewed and a comparison with the present case is presented. The embryologic basis for these anomalies is also briefly discussed. (orig.)

Doppler ultrasound evaluation of cerebral blood flow pattern in neonates with congenital heart disease

International Nuclear Information System (INIS)

Kim, Tae Hoon; Kim, Mi Young; Kim, Yang Min; Lee, Soo Hyun; Kim, Soo Jin; Kim, Woong Han

2003-01-01

To evaluate intracerebral resistive index (RI) values in neonates with congenital heart disease and to investigate their changes after the corrective surgery of the congenital heart disease. Sixty nine neonates with congenital heart disease who underwent brain ultrasonography were included. Resistive index values were obtained at the genu portion of the anterior cerebral arteries through the anterior fontanelles. The patients were divided into 4 groups according to the presence of associated patent ductus arteriosus (PDA) and intracranial RI values. We evaluated the types of congenital heart disease that could influence RI values. Resistive index values were statistically higher in patients with PDA than in patients without PDA (p<0.05). RI values were higher in cases of large PDA with left-to-right shunt, but within the normal range in cases of small or nearly closing PDA or large PDA with bidirectional blood flow or with right-to-left shunt. For those patients without PDA, RI values were higher when patients had pulmonary atresia with multiple collateral vessels into the lung or when truncus arteriosus was present. RI values were also high in patients with hypoplastic left heart syndrome. RI values were normalized after the ligation of PDA, but patients with hypoplastic left heart syndrome showed persistently high RI values even after the Norwood's operation with Blalock-Taussig shunt. RI values are influenced by various congenital heart diseases except PDA. Therefore, the presences of the congenital heart disease and its hemodynamic changes should be taken into consideration in the evaluation of the intracranial RI values using Doppler ultrasonography.

Noninvasive Screening for Pulmonary Hypertension by Exercise Testing in Congenital Heart Disease.

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Müller, Jan; Heck, Pinar Bambul; Ewert, Peter; Hager, Alfred

2017-05-01

Patients with congenital heart disease and native or palliated conditions are at risk to develop pulmonary hypertension (PH) in later life. Screening for PH is currently performed by regular echocardiographic follow-up, which appears to be difficult in several congenital conditions. This study evaluated the screening for PH in congenital heart disease by cardiopulmonary exercise testing (CPET). We analyzed our database including all patients with congenital heart disease referred for CPET in our institution from June 2001 to September 2013 and identified 683 patients who had an accompanied heart catheterization less than 6 month after CPET. Those 130 patients with proven PH were compared with the other 563 patients with congenital heart disease but without PH. Peak oxygen uptake was the most discriminative variable, showing two thresholds at 16.3 mL/min per kg and 25.2 mL/min per kg. The highest specificity of 95% for PH was found in patients with a peak oxygen uptake of 16.3 mL/min per kg or less and a breathing reserve of 37.4% or less. In patients with a peak oxygen uptake exceeding 16.3 mL/min per kg, there was a high specificity of 86.3% but a low sensitivity of 53.1%. With 25.2 mL/min per kg as the threshold, the sensitivity for PH was only 10.0%. Detection of PH in patients with congenital heart disease by CPET is difficult because of many falsely positive tests. However, a peak oxygen uptake higher than 25.2 mL/min per kg makes the diagnosis of PH unlikely. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

Ebstein's anomaly in children: a single-center study in Angola.

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Manuel, Valdano; Morais, Humberto; Magalhães, Manuel Pedro; Nunes, Maria Ana Sampaio; Leon, Gilberto; Ferreira, Manuel; Filipe Júnior, António Pedro

2015-10-01

Ebstein's anomaly is a rare complex congenital heart defect of the tricuspid valve. We aimed to describe the frequency, clinical profile, and early and short-term post-operative results in patients under the age of 18 years operated for this anomaly in a tertiary center in Angola. A retrospective cross-sectional study was conducted over a period of 37 months. We analyzed all patients diagnosed with congenital heart defects. Of the 1362 patients studied, eight (0.6%) had Ebstein's anomaly; six patients (75%) were female. Mean age was 69±59 months. Five patients were in NYHA functional class III or IV. Mean cardiothoracic index was 0.72. Seven patients (87.5%) had severe tricuspid regurgitation and five (62.5%) had another associated congenital heart defect. All patients were operated: two had complications and one (12.5%) died in the early post-operative period. The mean follow-up time was 1.22±0.6 years, and mortality during follow-up was 12.5% (n=1). At the end of the study, of the five patients in whom cone reconstruction was performed, four (80%) were in functional class I. Mean cardiothoracic index decreased to 0.64. Three patients had mild and two had moderate tricuspid regurgitation. The patient who underwent cone reconstruction and a Glenn procedure was in functional class I. The frequency of Ebstein's anomaly was similar to that in other centers. Cone reconstruction was viable in the majority of patients, with good early and short-term results. Copyright © 2015 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

Risk of congenital anomalies in the vicinity of municipal solid waste incinerators.

Science.gov (United States)

Cordier, S; Chevrier, C; Robert-Gnansia, E; Lorente, C; Brula, P; Hours, M

2004-01-01

Although municipal solid waste incineration (MSWI) has contributed to increase the overall environmental load of particulate matter containing dioxins and metals, evidence of health consequences to populations is sparse. To assess at a regional level (in southeast France) the impact of these emissions on birth defect rates. Communities with fewer than 50 000 inhabitants surrounding the 70 incinerators that operated at least one year from 1988 to 1997 were studied. Each exposed community (n = 194) was assigned an exposure index estimated from a Gaussian plume model. Poisson models and a reference population of the 2678 unexposed communities in the region were used to calculate relative risks for congenital malformations, adjusted for year of birth, maternal age, department of birth, population density, average family income, and when available, local road traffic. The rate of congenital anomalies was not significantly higher in exposed compared with unexposed communities. Some subgroups of major anomalies, specifically facial clefts and renal dysplasia, were more frequent in the exposed communities. Among exposed communities, a dose-response trend of risk with increasing exposure was observed for obstructive uropathies. Risks of cardiac anomalies, obstructive uropathies, and skin anomalies increased linearly with road traffic density. Although both incinerator emissions and road traffic may plausibly explain some of the excess risks observed, several alternative explanations, including exposure misclassification, ascertainment bias, and residual confounding cannot be excluded. Some of the effects observed, if real, might be attributable to old-technology MSWIs and the persistent pollution they have generated.

Dynamics in prevalence of Down syndrome in children with congenital heart disease.

Science.gov (United States)

Pfitzer, Constanze; Helm, Paul C; Rosenthal, Lisa-Maria; Berger, Felix; Bauer, Ulrike M M; Schmitt, Katharina Rl

2018-01-01

We assessed the dynamics in the prevalence of children with congenital heart disease (CHD) and Down syndrome in Germany with regard to phenotype, severity, and gender. Data from patients with CHD and Down syndrome born between 1980 and 2014 were analyzed, who are registered with the German National Register for Congenital Heart Defects. One thousand six hundred eighteen CHD patients with Down syndrome were identified. The prevalence of children born with both Down syndrome and CHD was constant from 2005 to 2009 but increased from 2010 to 2014. Regarding CHD groups, complex and simple lesions have become more equal since 2005. The number of simple lesions with shunt has a peak prevalence in the period of 2010-2014. Atrioventricular septal defect was the most common CHD phenotype, but temporal changes were found within the group of CHD phenotypes over the observation period. Our findings suggest a growing number of CHD and Down syndrome, which may be the result of improved medical management and progress in educational, social, and financial support. This development is noteworthy as it adds new aspects to present discussions in the media and political settings. What is known: • Congenital heart disease is regarded to be the most important clinical phenomenon in children with Down syndrome, due to its significant impact on morbidity and mortality. • New developments in prenatal diagnostic and therapy management of congenital heart disease continue to influence the number of patients diagnosed with congenital heart disease and Down syndrome. What is New: • This study provides essential data giving the first overview of the dynamics in the prevalence of congenital heart disease and Down syndrome over an extended length of time up to 2015 in a large patient cohort, taking recent developments into account. • Our data suggest a growing prevalence of congenital heart disease and Down syndrome, which may be the result of improved medical management for Down syndrome

Two case reports of anophthalmia and congenital heart disease: Adding a new dimension to this association.

Science.gov (United States)

Wang, Jenny; Steelman, Charlotte K; Vincent, Robert; Richburg, Delene; Chang, Tiffany S; Shehata, Bahig M

2010-01-01

Anophthalmia is the congenital absence of ocular tissue from the orbit. Many syndromes and malformations (e.g., anophthalmia-esophageal-genital syndrome, Matthew-Wood syndrome, CHARGE syndrome, oculo-facial-cardio-dental-syndome, heterotaxy, and Fraser syndrome) have been associated with anophthalmia. However, its relation with congenital heart disease has not been fully elucidated. In this article, we discuss two cases of patients with anophthalmia and congenital heart defects, and we compare these findings with other syndromes with which anophthalmia has been associated. One of our two patients showed complex congenital heart disease with heterotaxia, polysplenia, and normal lung lobation. These findings may reflect a new dimension of anophthalmia, heterotaxia, and congenital heart disease associations.

A population-based case-control study of drinking-water nitrate and congenital anomalies using Geographic Information Systems (GIS) to develop individual-level exposure estimates.

Science.gov (United States)

Holtby, Caitlin E; Guernsey, Judith R; Allen, Alexander C; Vanleeuwen, John A; Allen, Victoria M; Gordon, Robert J

2014-02-05

Animal studies and epidemiological evidence suggest an association between prenatal exposure to drinking water with elevated nitrate (NO3-N) concentrations and incidence of congenital anomalies. This study used Geographic Information Systems (GIS) to derive individual-level prenatal drinking-water nitrate exposure estimates from measured nitrate concentrations from 140 temporally monitored private wells and 6 municipal water supplies. Cases of major congenital anomalies in Kings County, Nova Scotia, Canada, between 1988 and 2006 were selected from province-wide population-based perinatal surveillance databases and matched to controls from the same databases. Unconditional multivariable logistic regression was performed to test for an association between drinking-water nitrate exposure and congenital anomalies after adjusting for clinically relevant risk factors. Employing all nitrate data there was a trend toward increased risk of congenital anomalies for increased nitrate exposure levels though this was not statistically significant. After stratification of the data by conception before or after folic acid supplementation, an increased risk of congenital anomalies for nitrate exposure of 1.5-5.56 mg/L (2.44; 1.05-5.66) and a trend toward increased risk for >5.56 mg/L (2.25; 0.92-5.52) was found. Though the study is likely underpowered, these results suggest that drinking-water nitrate exposure may contribute to increased risk of congenital anomalies at levels below the current Canadian maximum allowable concentration.

Overweight and obesity in children with congenital heart disease: combination of risks for the future?

OpenAIRE

Barbiero, Sandra Mari; D?Azevedo Sica, Caroline; Schuh, Daniela Schneid; Cesa, Claudia Ciceri; de Oliveira Petkowicz, Rosemary; Pellanda, Lucia Campos

2014-01-01

Background Children who have unhealthy lifestyles are predisposed to develop hypertension, dyslipidemia and other complications. The epidemic of obesity is also affecting children with congenital heart disease. The aim of this study is to estimate the prevalence of obesity and describe associated risk factors, including family history in children with congenital heart disease. Methods A cross-sectional study with 316 children and adolescents with congenital heart disease seen in an outpatient...

Frequency of Congenital Anomalies in Newborns and Its Relation to Maternal Health in a Tertiary Care Hospital in Peshawar, Pakistan

Directory of Open Access Journals (Sweden)

Adnan Khan

2015-03-01

Full Text Available Background: Congenital anomalies are a major cause of perinatal and neonatal deaths, both in low- and high-income countries. They are relatively common worldwide, affecting 3% to 5% of live births. Methods: A cross-sectional study was conducted from January 2014 to June 2014 at the Khyber teaching hospital in Peshawar. Specific patient information was obtained from patient records at the beginning of the study. Those individuals found to have at least one birth defect were approached and their attendants (mothers were interviewed. Information regarding various risk factors was collected. Descriptive analyses were carried out. Results: Out of 1062 deliveries, 2.9% (31 of newborns had various congenital anomalies. Hydrocephalus (22.6%, anencephaly (12.9%, and spina bifida (9.7% were major anomalies. The maternal age ranged from 18 years to 46 years (mean: 30 ± 8. Most of the anomalies (35.5% were present in the 26-30 years age group. Out of 31 babies, 6.4% had multiple anomalies. The preponderance of various congenital anomalies was seen in parity 1 (35.4%; parities 2 to 4 had lower incidences (35.4%. The consanguinity rate was 67.7%; only 32.3% of patients were using folic acid. History of passive smoking was positive in 16.1% of cases. Conclusion: Anencephaly and hydrocephalus were the most prominent anomaly detected; early prenatal diagnosis may be helpful in decreasing mortality by offering early termination. Low intake of folic acid and a high consanguinity rate were the most common associated risk factors for congenital anomalies. These risk factors may be reduced by creating awareness regarding the avoidance of consanguineous marriage and promoting the use of folic acid during pregnancy.

Fitness to Fly Testing in Patients with Congenital Heart and Lung Disease.

Science.gov (United States)

Spoorenberg, Mandy E; van den Oord, Marieke H A H; Meeuwsen, Ted; Takken, Tim

2016-01-01

During commercial air travel passengers are exposed to a low ambient cabin pressure, comparable to altitudes of 5000 to 8000 ft (1524 to 2438 m). In healthy passengers this causes a fall in partial pressure of oxygen, which results in relative hypoxemia, usually without symptoms. Patients with congenital heart or lung disease may experience more severe hypoxemia during air travel. This systematic review provides an overview of the current literature focusing on whether it is safe for patients with congenital heart or lung disease to fly. The Pubmed database was searched and all studies carried out at an (simulated) altitude of 5000-8000 ft (1524-2438 m) for a short time period (several hours) and related to patients with congenital heart or lung disease were reviewed. Included were 11 studies. These studies examined patients with cystic fibrosis, neonatal (chronic) lung disease and congenital (a)cyanotic heart disease during a hypoxic challenge test, in a hypobaric chamber, during commercial air travel, or in the mountains. Peripheral/arterial saturation, blood gases, lung function, and/or the occurrence of symptoms were listed. Based on the current literature, it can be concluded that air travel is safe for most patients. However, those at risk of hypoxia can benefit from supplemental in-flight oxygen. Therefore, patients with congenital heart and lung disease should be evaluated carefully prior to air travel to select the patients at risk for hypoxia using the current studies and guidelines.

Risk of thromboembolic complications in adult congenital heart disease: A literature review.

Science.gov (United States)

Karsenty, Clement; Zhao, Alexandre; Marijon, Eloi; Ladouceur, Magalie

2018-05-30

Adult congenital heart disease (ACHD) is a constantly expanding population with challenging issues. Initial medical and surgical treatments are seldom curative, and the majority of patients still experience late sequelae and complications, especially thromboembolic events. These common and potentially life-threating adverse events are probably dramatically underdiagnosed. Better identification and understanding of thromboembolic risk factors are essential to prevent long-term related morbidities. In addition to specific situations associated with a high risk of thromboembolic events (Fontan circulation, cyanotic congenital heart disease), atrial arrhythmia has been recognized as an important risk factor for thromboembolic events in ACHD. Unlike in patients without ACHD, thromboembolic risk stratification scores, such as the CHA 2 DS 2 -VASc score, may not be applicable in ACHD. Overall, after a review of the scientific data published so far, it is clear that the complexity of the underlying congenital heart disease represents a major risk factor for thromboembolic events. As a consequence, prophylactic anticoagulation is indicated in patients with complex congenital heart disease and atrial arrhythmia, regardless of the other risk factors, as opposed to simple heart defects. The landscape of ACHD is an ongoing evolving process, and specific thromboembolic risk scores are needed, especially in the setting of simple heart defects; these should be coupled with specific trials or long-term follow-up of multicentre cohorts. Copyright © 2018 Elsevier Masson SAS. All rights reserved.

Pattern and Diagnosis of Congenital Heart Disease in Patients ...

African Journals Online (AJOL)

Objective: To study the pattern of Congenital Heart Diseases (CHD) in children referred to Ahmed Gasim Cardiac Center) in Khartoum. Methods: This is a prospective cross-sectional, clinic based study conducted over a six months period. The children were referred to the Cardiac Centre because of suspected heart ...

Cor triatriatum dexter, a very rare congenital anomaly presented in a complex pathological context – case presentation

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Gozar Liliana

2014-08-01

Full Text Available Background Cor triatriatum dexter is an extremely rare congenital anomaly, and in most cases, without hemodynamic significance. Congenital cytomegalovirus infection is the most common viral infection, the majority of infected infants being asymptomatic and only 5-15% being symptomatic in the neonatal period.

Preattentive processing of heart cues and the perception of heart symptoms in congenital heart disease.

Science.gov (United States)

Karsdorp, Petra A; Kindt, Merel; Everaerd, Walter; Mulder, Barbara J M

2007-08-01

The present study was aimed at clarifying whether preattentive processing of heart cues results in biased perception of heart sensations in patients with congenital heart disease (ConHD) who are also highly trait anxious. Twenty-six patients with ConHD and 22 healthy participants categorized heart-related (heart rate) or neutral sensations (constant vibration) as either heart or neutral. Both sensations were evoked using a bass speaker that was attached on the chest of the participant. Before each physical sensation, a subliminal heart-related or neutral prime was presented. Biased perception of heart-sensations would become evident by a delayed categorization of the heart-related sensations. In line with the prediction, a combination of high trait anxiety and ConHD resulted in slower responses after a heart-related sensation that was preceded by a subliminal heart cue. Preattentive processing of harmless heart cues may easily elicit overperception of heart symptoms in highly trait anxious patients with ConHD.

Echocardiographic evaluation of simple versus complex congenital heart disease in a tertiary care Paediatrics Hospital

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Uttam Kumar Sarkar

2017-10-01

Full Text Available Background & Objectives:Congenital heart diseases are treatable either by catheter based intervention or open heart surgery according to their quality. In our study we aim to analyze congenital heart disease echocardiographically into simple versus complex heart disease at a tertiary care centre with a public health planning and policy making perspective.Materials & Methods:This hospital based study was done on 1010 patients, both from in-patient and out-patient, who were clinically suspected to have heart disease from January 2015 to September 2016 at Dr.B.C.Roy P.G.I.P.S. Kolkata and echocardiographically categorized.Results:A VSD was the commonest acyanotic heart disease (17. 08%.Tetralogy of Fallot (TOF was commonest complex cyanotic heart disease (10.64%, VSD +ASD was the commonest combined lesion (8.12%. Simple heart lesions (63.1% were commoner than complex (36.9% congenital heart diseases.Conclusion:Health policy makers should give due care to manage Congenital Heart Disease either catheter based or surgically keeping in mind about 63.1% of the lesions are simple cardiac lesions and 36.9% lesions are complex cardiac lesion where complex surgery is required. 

Sonocubic fine: new three-dimensional ultrasound software to the screening of congenital heart diseases

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Edward Araujo Júnior

2014-09-01

Full Text Available Congenital heart disease is the most common fetal congenital malformations; however, the prenatal rate detection still is low. The two-dimensional echocardiography is the "gold standard" exam to screening and diagnosis of congenital heart disease during the prenatal; however, this exam is operator-depending and it is realized only in high risk pregnancies. Spatio-temporal image correlation is a three-dimensional ultrasound software that analyses the fetal heart and your connections in the multiplanar and rendering modes; however, spatio-temporal image correlation too is operator-depending and time-consuming. We presenting a new three-dimensional software named Sonocubic fine to the screening of congenital heart disease. This software applies intelligent navigation technology to spatio-temporal image correlation volume datasets to automatically generate nine fetal echocardiography standard views. Thus, this new software tends to be less operator-depending and time-consuming.

Congenital Heart Disease in Children's hospital medical center A Cross-Sectional study 2000 - 2001

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Zeinaloo. A. A Tadbir. M

2002-07-01

Full Text Available The most common congenital diseases in children is congenital heart disease. Factors such as environment, genetic, old maternal age during pregnancy, maternal disease and using medicine in pregnancy, prematuritiy, and specific seasons are significant in the prevalence of disease."nMaterials and Methods: A cross sectional study was conducted to investigate the status of children with congenital heart diseases, among 665 child that refereed to Children's hospital medical center, Tehran University of Medical Sciences and Health Services, during 1 year (2000 tO 2001. The researchers due to the lack of existing appropriate tools developed the instrument for the study. The questionnaire was 15 items, nominal, ordinal and interval scale. All items were verified using major authoritative pediatric cardiologists references and were subjected to face and content validation by three experts. Convenient sampling was utilized for collecting data. All subjects were examined in cardiology department and echocardiography was done for them."nResults: From a total of 665 children with congenital heart defects, 56.2 percent were male and 43.8 percent were female. 32.6 percent were born in autumn. Septal defects were predominant lesions, which account for 36.1 percent of lesions. 89.8 percent of children have never extracardiac defects. Children of mothers age 20-35 years had a percentage of 86.2 percent of developing congenital heart disease, Percentage of children who their birth weight less than 2500 gram was quite small, at 24.1 per cent overall. There was no significant relationship between selected variables and congenital heart diseases."nConclusion: With regard to the prevalence of disease and preventing therapeutic costs, parents and teachers education have an important role in preventing congenital heart disease. Therefore, the formation of a learning curriculum model for a life free of congenital heart disease and congenital heart diseases

The spectrum of adult congenital heart disease in Europe: morbidity and mortality in a 5 year follow-up period - The Euro Heart Survey on adult congenital heart disease

NARCIS (Netherlands)

Engelfriet, Peter; Boersma, Eric; Oechslin, Erwin; Tijssen, Jan; Gatzoulis, Michael A.; Thilén, Ulf; Kaemmerer, Harald; Moons, Philip; Meijboom, Folkert; Popelová, Jana; Laforest, Valérie; Hirsch, Rafael; Daliento, Luciano; Thaulow, Erik; Mulder, Barbara

2005-01-01

Aims To describe clinical and demographic characteristics at baseline of a European cohort of adults with congenital heart disease (CHD) and to assess mortality and morbidity in a 5 year follow-up period. Methods and results Data collected as part of the Euro Heart Survey on adult CHD was analysed.

Usefulness of cutting balloon angioplasty for the treatment of congenital heart defects.

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Kusa, Jacek; Mazurak, Magdalena; Skierska, Agnieszka; Szydlowski, Leslaw; Czesniewicz, Pawel; Manka, Lukasz

2018-01-01

Patients with complex congenital heart defects may have different hemodynamic prob-lems which require a variety of interventional procedures including angioplasty which involves using high-pressure balloons. After failure of conventional balloon angioplasty, cutting balloon angioplasty is the next treatment option available. The purpose of this study was to evaluate the safety and efficacy of cutting balloon angioplasty in children with different types of congenital heart defects. Cutting balloon angioplasty was performed in 28 children with different congenital heart defects. The indication for cutting balloon angioplasty was: pulmonary artery stenosis in 17 patients, creating or dilatation of interatrial communication in 10 patients, and stenosis of left subclavian artery in 1 patient. In the pulmonary arteries group there was a significant decrease in systolic blood pressure (SBP) in the proximal part of the artery from the average 74.33 ± 20.4 mm Hg to 55 ± 16.7 mm Hg (p cutting balloon angioplasty was performed after an unsuccessful classic Rashkind procedure. After cutting balloon angioplasty there was a significant widening of the interatrial communication. Cutting balloon angioplasty is a feasible and effective treatment option in different con-genital heart defects.

Risk factors for nosocomial infections after cardiac surgery in newborns with congenital heart disease.

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García, Heladia; Cervantes-Luna, Beatriz; González-Cabello, Héctor; Miranda-Novales, Guadalupe

2017-11-23

Congenital heart diseases are among the most common congenital malformations. Approximately 50% of the patients with congenital heart disease undergo cardiac surgery. Nosocomial infections (NIs) are the main complications and an important cause of increased morbidity and mortality associated with congenital heart diseases. This study's objective was to identify the risk factors associated with the development of NIs after cardiac surgery in newborns with congenital heart disease. This was a nested case-control study that included 112 newborns, including 56 cases (with NI) and 56 controls (without NI). Variables analyzed included perinatal history, associated congenital malformations, Risk-Adjusted Congenital Heart Surgery (RACHS-1) score, perioperative and postoperative factors, transfusions, length of central venous catheter, nutritional support, and mechanical ventilation. Differences were calculated with the Mann-Whitney-U test, Pearson X 2 , or Fisher's exact test. A multivariate logistic regression was used to determine the independent risk factors. Sepsis was the most common NI (37.5%), and the main causative microorganisms were gram-positive cocci. The independent risk factors associated with NI were non-cardiac congenital malformations (OR 6.1, CI 95% 1.3-29.4), central venous catheter indwelling time > 14 days (OR 3.7, CI 95% 1.3-11.0), duration of mechanical ventilation > 7 days (OR 6.6, CI 95% 2.1-20.1), and ≥5 transfusions of blood products (OR 3.1, CI 95% 1.3-8.5). Mortality attributed to NI was 17.8%. Newborns with non-cardiac congenital malformations and with >7 days of mechanical ventilation were at higher risk for a postoperative NI. Efforts must focus on preventable infections, especially in bloodstream catheter-related infections, which account for 20.5% of all NIs. Copyright © 2017. Published by Elsevier B.V.

Non-occupational exposure to paint fumes during pregnancy and risk of congenital anomalies

DEFF Research Database (Denmark)

Hjortebjerg, Dorrit; Andersen, Anne-Marie Nybo; Garne, Ester

2012-01-01

Occupational exposure to organic solvents during the 1st trimester of pregnancy has been associated with congenital anomalies. Organic solvents are also used in the home environments in paint products, but no study has investigated the effect of such exposure in a general population....

Contribution of Congenital Anomalies to Preterm Birth Risk in the Netherlands: poster presentation

NARCIS (Netherlands)

Mohangoo1, A.; Lanting, C.; Bennebroek Gravenhorst, J.; Verloove-Vanhorick, P.; Buitendijk, S.

2010-01-01

Objective: To asses the extents to which congenital anomalies affect risk of preterm birth. Methods: For the present study, we analysed data on 1,972,058 newborns registered in the Netherlands Perinatal Registry database (inclusion criteria 16 weeks of gestation). Logistic regression techniques were

Congenital Heart Diseases in the Newborns of Diabetic Mothers: an Echocardiographic Study

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S Rahimpour

2011-10-01

Full Text Available Introduction: Despite the discovery of insulin and current improvement in diabetics care, congenital malformations in diabetics are still more frequent than in the general population. The aim of this study was to identify congenital heart dieases (CHD in the newborns of diabetic mothers (IDMS. Methods: In our prospective study, color doppler echocardiography was performed in 75 consecutive full- term newborns of diabetic mothers by GE Vivid3 echocardiographic device. Newborns were classified into two subgroups according to the type of the mothers’ diabetes: pre-gestational and gestational. They were also those were classified into three subgroups according to their birth weight: appropriate, large and small for gestational age. Data analysis was made by Fisher exact test and Chi-Square test. Results: Forty nine (65% and thirty six (35% of subjects were infants of gestational (IGDM and pre-gestational diabetic mothers (IPDM, respectively. Fifty five Newborns (73% were apropriate, fourteen (19% were large and six (8% were small for gestational age. The most common echocardiographic findings included: patent ductus arteriosus (PDA: 54.7%, hypertrophic cardiomyopathy (HCMP: 24%, ventricular septal defect (VSD: 4%, atrial septal defect (ASD: 2.7%, transposition of great arteries (TGA: 1.3% and coarctation of the Aorta (COA: 1.3%. Overall incidence of congenital heart diseases was 9.3 after exclusion of PDA and HCMP cases. The incidence of congenital heart diseases was higher in macrosomic than nonmacrosomic infants of diabetic mothers (P<0.001. Congenital heart diseases were more common in infants of pre-gestational than gestational diabetic mothers (P=0.004. Conclusion: Our results showed that diabetic mothers are at increased risk of giving birth to a newborn with congenital heart disease, and transthoracic echocardiography is recommended for all infants of diabetic mothers.

A Population-Based Case-Control Study of Drinking-Water Nitrate and Congenital Anomalies Using Geographic Information Systems (GIS) to Develop Individual-Level Exposure Estimates

Science.gov (United States)

Holtby, Caitlin E.; Guernsey, Judith R.; Allen, Alexander C.; VanLeeuwen, John A.; Allen, Victoria M.; Gordon, Robert J.

2014-01-01

Animal studies and epidemiological evidence suggest an association between prenatal exposure to drinking water with elevated nitrate (NO3-N) concentrations and incidence of congenital anomalies. This study used Geographic Information Systems (GIS) to derive individual-level prenatal drinking-water nitrate exposure estimates from measured nitrate concentrations from 140 temporally monitored private wells and 6 municipal water supplies. Cases of major congenital anomalies in Kings County, Nova Scotia, Canada, between 1988 and 2006 were selected from province-wide population-based perinatal surveillance databases and matched to controls from the same databases. Unconditional multivariable logistic regression was performed to test for an association between drinking-water nitrate exposure and congenital anomalies after adjusting for clinically relevant risk factors. Employing all nitrate data there was a trend toward increased risk of congenital anomalies for increased nitrate exposure levels though this was not statistically significant. After stratification of the data by conception before or after folic acid supplementation, an increased risk of congenital anomalies for nitrate exposure of 1.5–5.56 mg/L (2.44; 1.05–5.66) and a trend toward increased risk for >5.56 mg/L (2.25; 0.92–5.52) was found. Though the study is likely underpowered, these results suggest that drinking-water nitrate exposure may contribute to increased risk of congenital anomalies at levels below the current Canadian maximum allowable concentration. PMID:24503976

Fetal and neonatal mortality in patients with isolated congenital heart diseases and heart conditions associated with extracardiac abnormalities.

Science.gov (United States)

Marantz, Pablo; Sáenz Tejeira, M Mercedes; Peña, Gabriela; Segovia, Alejandra; Fustiñana, Carlos

2013-10-01

Congenital malformations are a known cause of intrauterine death; of them, congenital heart diseases (CHDs) are accountable for the highest fetal and neonatal mortality rates. They are strongly associated with other extracardiac malformations and an early fetal mortality. Two hundred and twenty fves cases of CHDs are presented. Of them, 155 were isolated CHDs (group A) and 70 were associated with extracardiac malformations, chromosomal disorders, or genetic syndromes (group B). The overall mortality in group B was higher than that observed in group A (p Heart diseases associated with extracardiac abnormalities had a higher mortality rate than isolated congenital heart diseases in the period up to 60 weeks of postmenstrual age (140 days post-term). No differences were observed between both groups of patients in terms of prenatal mortality.

MRI in the assessment of congenital vaginal anomalies

International Nuclear Information System (INIS)

Humphries, P.D.; Simpson, J.C.; Creighton, S.M.; Hall-Craggs, M.A.

2008-01-01

Aim: To assess accuracy of magnetic resonance imaging (MRI) for the delineation of morphological abnormalities of the vagina in patients with congenital anomalies of the genito-urinary tract. Materials and methods: Fifty-one patients (median age 19 years; range 12-40 years) were studied. All were consecutively referred for MRI to assess genital tract anatomy, between 1996 and 2004, from a clinic specializing in congenital abnormalities of the urogenital tract. All patients were assessed clinically and underwent MRI. Images were reviewed retrospectively by an experienced radiologist. Where there was discordance between clinical and radiological findings a consensus diagnosis was achieved by the gynaecologists and radiologists reviewing all of the clinical and radiological evidence together, including assessment of vaginal length. Results: The clinical data were incomplete for five women and the images non-diagnostic in two cases; consequently, 44 of 51 women had complete datasets and could be evaluated. Vaginas were abnormal in 30 of the 44 patients. There was discordance between the clinical and imaging findings at the initial review in three of the 44 cases (6.8%). After consensus review, and with the inclusion of measurement of the vaginal length on MRI, the MRI and clinical findings were concordant in all cases. The initial discordance was due to two vaginal dimples not being appreciated on MRI and one case in which presence of vaginal tissue proximal to a mid-segment obstruction was not appreciated clinically. Conclusion: MRI is an accurate method of imaging vaginal anomalies. However, to achieve reliable results the radiologist requires details of previous surgery and the vaginal length must be measured

MRI in the assessment of congenital vaginal anomalies

Energy Technology Data Exchange (ETDEWEB)

Humphries, P.D. [Department of Radiology, University College Hospital, London (United Kingdom); Simpson, J.C.; Creighton, S.M. [Department of Obstetrics and Gynaecology, University College Hospital, London (United Kingdom); Hall-Craggs, M.A. [Department of Radiology, University College Hospital, London (United Kingdom)], E-mail: margaret.hall-craggs@uclh.nhs.uk

2008-04-15

Aim: To assess accuracy of magnetic resonance imaging (MRI) for the delineation of morphological abnormalities of the vagina in patients with congenital anomalies of the genito-urinary tract. Materials and methods: Fifty-one patients (median age 19 years; range 12-40 years) were studied. All were consecutively referred for MRI to assess genital tract anatomy, between 1996 and 2004, from a clinic specializing in congenital abnormalities of the urogenital tract. All patients were assessed clinically and underwent MRI. Images were reviewed retrospectively by an experienced radiologist. Where there was discordance between clinical and radiological findings a consensus diagnosis was achieved by the gynaecologists and radiologists reviewing all of the clinical and radiological evidence together, including assessment of vaginal length. Results: The clinical data were incomplete for five women and the images non-diagnostic in two cases; consequently, 44 of 51 women had complete datasets and could be evaluated. Vaginas were abnormal in 30 of the 44 patients. There was discordance between the clinical and imaging findings at the initial review in three of the 44 cases (6.8%). After consensus review, and with the inclusion of measurement of the vaginal length on MRI, the MRI and clinical findings were concordant in all cases. The initial discordance was due to two vaginal dimples not being appreciated on MRI and one case in which presence of vaginal tissue proximal to a mid-segment obstruction was not appreciated clinically. Conclusion: MRI is an accurate method of imaging vaginal anomalies. However, to achieve reliable results the radiologist requires details of previous surgery and the vaginal length must be measured.

Atrialised right ventricular myxoma in a patient with Ebstein’s anomaly

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T-J John

2018-03-01

Full Text Available Ebstein’s anomaly is a rare entity affecting around 1 in 200,000 live births and accounts for less than 1% of congenital heart diseases. Ebstein’s anomaly with an associated right-sided myxoma is extremely rare, with only one other case report found in the literature. Previous reports have also noted cases of Ebstein’s anomaly associated with left-sided myxomas. We describe a female patient with, to our knowledge, the first case of a histopathologically confirmed right ventricular myxoma in the setting of Ebstein’s anomaly.

Role of CT in Congenital Heart Disease.

Science.gov (United States)

Rajiah, Prabhakar; Saboo, Sachin S; Abbara, Suhny

2017-01-01

Congenital heart diseases (CHD) are being increasingly encountered in cardiac imaging due to improved outcomes from surgical and interventional techniques. Imaging plays an important role in the evaluation of CHD, both prior to and after surgeries and interventions. Computed tomography (CT) has several advantages in the evaluation of these disorders, particularly its high spatial resolution, multi-planar reconstruction capabilities at sub-millimeter isotropic resolution, good temporal resolution, wide field of view, and rapid turnaround time, which minimizes the need for sedation and anesthesia in young children or children with disabilities. With modern scanners, images can be acquired as fast as within one heartbeat. Although there is a risk of ionizing radiation, the radiation dose can be minimized by using several dose reduction strategies. There is a risk of contrast nephrotoxicity in patients with renal dysfunction. In this article, we will review the role of CT in the evaluation of several congenital heart diseases, both in children and adults.

Impact of congenital anomalies and treatment location on the outcomes of infants hospitalized with herpes simplex virus (HSV).

Science.gov (United States)

Lorch, Scott A; Millman, Andrea M; Shah, Samir S

2010-03-01

Herpes simplex virus (HSV) is a rare but costly reason for hospitalization in infants under 60 days of age. The impact of coexisting comorbid conditions and treatment location on hospital outcome is poorly understood. Determine patient and hospital factors associated with poor outcomes or death in infants hospitalized with HSV. : Retrospective cohort study using the 2003 Kids' Inpatient Database (KID). U.S. hospitals. Infants under 60 days of age with a diagnosis of HSV. Treatment at different types of hospitals, younger age at admission, and presence of congenital anomalies. Serious complications, in-hospital death. A total of 10% of the 1587 identified HSV hospitalizations had a concurrent congenital anomaly. A total of 267 infants had a serious complication and 50 died. After controlling for clinical and hospital characteristics, concurrent congenital anomalies were associated with higher odds of a serious complication (adjusted odds ratio [OR], 3.34; 95% confidence interval [CI], 2.00-5.56) and higher odds of death (adjusted OR, 4.17; 95% CI, 1.74-10.0). Similar results were found for infants admitted under 7 days of age. Although different hospital types had statistically similar clinical outcomes after controlling for case-mix differences, treatment at a children's hospital was associated with an 18% reduction in length of stay (LOS). Infants with concurrent congenital anomalies infected with HSV were at increased risk for serious complications or death. Health resource use may be improved through identification and adoption of care practiced at children's hospitals.

Scintigraphic evaluation of congenital anomalies of the thyroid gland

International Nuclear Information System (INIS)

Paul, A. K.; Hassan, M.A.; Miah, M.S.R.

2001-01-01

Total 2287 patients who undergone thyroid scintigraphy in Nuclear Medicine Centre, Khulna from January 1998 to December 2000 were retrospectively studied to evaluate the congenital anomalies of the thyroid gland. Scintigraphy showed thyroid anomalies in 11 patients (0.48%). The presenting features and thyroid function tests were analyzed and a detailed study was performed. Of these 11 cases, 7 patients (63.6%) had ectopic thyroid gland and site of ectopic was found to be lingual in 4 cases, sublingual in 2 cases and pre laryngeal in 1 case, 3 patients (27.3%) with hemi agenesis of thyroid and 1 patient (9.1%) with athyreosis. Biochemically 3 cases were hypothyroid of which 2 had ectopic thyroid and 1 with athyreosis. 1 patient was hyperthyroid with hemi agenesis of thyroid and 7 were euthyroid. Females were more affected than males, the ratio being 4.5:1. (authors) 2 tabs. 12 refs

Congenital heart disease and its journey from dental plaque to arterial plaque

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Vinathi Reddy Kankara

2016-01-01

Full Text Available Congenital heart disease is mostly found in children, approximately around 7–10% from overall heart diseases. The etiology is multifactorial but reported associations include untreated maternal diabetes, phenylketonuria, intake of retinoic acid last but not least is oral pathogens present in periodontopathic bacteria. The main objective of this article is to explain about different mechanisms by which it is associated with dental, periodontal manifestations. It also explains about two patients who reported to our hospital with congenital heart disease and their dental and periodontal management.

Problems in the organization of care for patients with adult congenital heart disease

NARCIS (Netherlands)

Meijboom, Folkert; Mulder, Barbara

2010-01-01

The prevalence of congenital heart disease among adults in Europe, or in any country in Europe, is not known. This is due to a lack of agreement on the incidence of congenital heart disease, with estimations varying from four per 1000 births to 50 per 1000 births, and it is not known how many

Congenital Heart Disease: Guidelines of Care for Children with Special Health Care Needs.

Science.gov (United States)

Minnesota State Dept. of Health, Minneapolis. Services for Children with Handicaps.

These guidelines were written to help families coordinate the health care that may be needed by a child with congenital heart disease. The booklet begins with general information about congenital heart disease. It then discusses the goals of health care, the health care team, the importance of periodic health care, and record keeping procedures.…

Lamotrigine use in pregnancy and risk of orofacial cleft and other congenital anomalies

DEFF Research Database (Denmark)

Dolk, Helen; Wang, Hao; Loane, Maria

2016-01-01

OBJECTIVE: To test previous signals of a risk of orofacial cleft (OC) and clubfoot with exposure to the antiepileptic lamotrigine, and to investigate risk of other congenital anomalies (CA). METHODS: This was a population-based case-malformed control study based on 21 EUROCAT CA registries coveri...

The use of intravenous digital subtraction angiography in evaluating patients with complex congenital heart disease

International Nuclear Information System (INIS)

Moodie, D.S.

1986-01-01

The author previously described his experience in 450 patients with congenital heart disease using intravenous digital subtraction angiography (DSA) to define cardiac anatomy. He has been impressed by the utility of DSA in the evaluation of patients with congenital heart disease. It is now an integral part of his clinical practice to perform intravenous DSA studies both pre- and postoperatively on an inpatient as well as outpatient basis. This chapter details his DSA experience with complex forms of congenital heart disease

Recreational scuba diving in patients with congenital heart disease: Time for new guidelines.

Science.gov (United States)

Schleich, Jean-Marc; Schnell, Frédéric; Brouant, Benoît; Phan, Gerald; Lafay, Vincent; Bonnemains, Laurent; Bédossa, Marc

2016-01-01

The number of recreational scuba divers is steadily increasing. In its latest recommendations, the French Federation of Undersea Studies and Sports listed congenital heart disease as a formal and final contraindication to scuba diving. On the other hand, with the progress made in their management, the prognosis and quality of life of patients with congenital heart diseases have improved considerably, enabling them to engage in physical and sports endeavours, which are known to confer general health and psychological benefits. As a consequence, the ability of these patients to dive has become a regular and recurrent issue. We review the various types of scuba diving, the physical performance required for its practice, its effects on cardiovascular function and the elements that need to be considered before recommending whether it can be practiced safely at various levels of difficulty. Because of the diversity and broad heterogeneity of congenital heart diseases, a detailed evaluation of each patient's performance based on clinical criteria common to all congenital heart diseases is recommended. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

Patent Ductus Arteriosus Associated with Congenital Anomaly of Coronary Artery

OpenAIRE

Maleki, Majid; Azizian, Nassrin; Esmaeilzadeh, Maryam; Moradi, Bahieh

2013-01-01

We reported a case of patent ductus arteriosus (PDA) with congenital anomaly of coronary arteries as abnormal origin of right coronary artery (RCA) and left coronary artery (LCA) from a single ostium of the right coronary sinus. A 21-year-old man referred to our institution for evaluation of cardiac murmur. He has suffered from palpitation and atypical chest pain for three months. On physical examination, a continuous murmur was heard in the second left parasternal space. Transthoracic echoca...

Prenatal screening for congenital anomalies: exploring midwives' perceptions of counseling clients with religious backgrounds.

Science.gov (United States)

Gitsels-van der Wal, Janneke T; Manniën, Judith; Gitsels, Lisanne A; Reinders, Hans S; Verhoeven, Pieternel S; Ghaly, Mohammed M; Klomp, Trudy; Hutton, Eileen K

2014-07-19

In the Netherlands, prenatal screening follows an opting in system and comprises two non-invasive tests: the combined test to screen for trisomy 21 at 12 weeks of gestation and the fetal anomaly scan to detect structural anomalies at 20 weeks. Midwives counsel about prenatal screening tests for congenital anomalies and they are increasingly having to counsel women from religious backgrounds beyond their experience. This study assessed midwives' perceptions and practices regarding taking client's religious backgrounds into account during counseling. As Islam is the commonest non-western religion, we were particularly interested in midwives' knowledge of whether pregnancy termination is allowed in Islam. This exploratory study is part of the DELIVER study, which evaluated primary care midwifery in The Netherlands between September 2009 and January 2011. A questionnaire was sent to all 108 midwives of the twenty practices participating in the study. Of 98 respondents (response rate 92%), 68 (69%) said they took account of the client's religion. The two main reasons for not doing so were that religion was considered irrelevant in the decision-making process and that it should be up to clients to initiate such discussions. Midwives' own religious backgrounds were independent of whether they paid attention to the clients' religious backgrounds. Eighty midwives (82%) said they did not counsel Muslim women differently from other women. Although midwives with relatively many Muslim clients had more knowledge of Islamic attitudes to terminating pregnancy in general than midwives with relatively fewer Muslim clients, the specific knowledge of termination regarding trisomy 21 and other congenital anomalies was limited in both groups. While many midwives took client's religion into account, few knew much about Islamic beliefs on prenatal screening for congenital anomalies. Midwives identified a need for additional education. To meet the needs of the changing client population

The right side in congenital heart disease

NARCIS (Netherlands)

Schuuring, M.J.

2014-01-01

Life expectancy of children with congenital heart disease (CHD) has increased dramatically during the past years, due to the successes of cardiac surgery. At present, nearly all of these children with CHD can be operated at young age and more than 90% reach adulthood. At adult age, however, many

Anaesthetic management of a child with "cor-triatriatum" and multiple ventricular septal defects - A rare congenital anomaly

Directory of Open Access Journals (Sweden)

Sriram Sabade

2010-01-01

Full Text Available Cor-triatriatum is a rare congenital cardiac anomaly. It accounts for 0.1% of congenital heart diseases. Its association with multiple ventricular septal defects (VSD is even rarer. A five-month-old baby was admitted with respiratory distress and failure to thrive. Clinical examination revealed diastolic murmur over mitral area. Chest X-ray showed cardiomegaly. Haematological and biochemical investigations were within normal limits. Electrocardiogram showed left atrial enlargement. 2D echo showed double-chambered left atrium (cor-triatriatum, atrial septal defect (ASD and muscular VSD with moderate pulmonary arterial hypertension. The child was treated with 100% oxygen, diuretics and digoxin and was stabilized medically. We used balanced anaesthetic technique using oxygen, air, isoflurane, fentanyl, midazolam and vecuronium. Patient was operated under cardiopulmonary bypass (CPB with moderate hypothermia. Through right atriotomy abnormal membrane in the left atrium was excised to make one chamber. VSD were closed with Dacron patches and ASD was closed with autologous pericardial patch. Patient tolerated the whole procedure well and was ventilated electively for 12h in the intensive care unit. He was discharged on the 10 th postoperative day.

[Adult congenital heart disease--between guidelines and clinical practice].

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Chessa, Massimo

2011-01-01

Advances in medical and surgical management of congenital heart disease have changed the prognosis of infants and children with cardiac defects, so that an increasing number of patients reach adolescence and adult life, even those with complex defects. Recent data suggest that the number of adults with congenital heart disease, either repaired or not, approaches the number of children with the disorder. A cure is rarely achieved and ongoing surveillance and management in conjunction with specialists in this highly specialized field is mandatory to provide optimal care for patients. The profile of this patient population is going to change over the next few decades. Ideally specialist units should be established in appropriate geographic locations; patients need to be concentrated for expertise, experience, and optimal management. Less specialized regional centers and outpatient clinics in districts in connection with grown-up congenital heart disease units should be created. Specialist units should accept responsibility for educating the professionals, training the specialists, and sharing particular skills between each other. Guidelines and recommendations should help physicians to make decision in their daily practice. However, the final judgment regarding the care of an individual patient must be made by his/her physician. This article will briefly discuss some aspects of these dedicated guidelines and how they influence the clinical daily practice.

3D Printing is a Transformative Technology in Congenital Heart Disease

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Shafkat Anwar, MD

2018-04-01

Full Text Available Summary: Survival in congenital heart disease has steadily improved since 1938, when Dr. Robert Gross successfully ligated for the first time a patent ductus arteriosus in a 7-year-old child. To continue the gains made over the past 80 years, transformative changes with broad impact are needed in management of congenital heart disease. Three-dimensional printing is an emerging technology that is fundamentally affecting patient care, research, trainee education, and interactions among medical teams, patients, and caregivers. This paper first reviews key clinical cases where the technology has affected patient care. It then discusses 3-dimensional printing in trainee education. Thereafter, the role of this technology in communication with multidisciplinary teams, patients, and caregivers is described. Finally, the paper reviews translational technologies on the horizon that promise to take this nascent field even further. Key Words: cardiac imaging, cardiothoracic surgery, congenital heart disease, simulation, 3D printing

Multiple caeco-appendiceal fistulas and diverticulosis: a newly defined congenital anomaly of the appendix-report of the first case.

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Yucel, Ahmet Fikret; Pergel, Ahmet; Kocakusak, Ahmet; Aydin, Ibrahim; Bagci, Pelin; Sahin, Dursun Ali

2011-11-01

Congenital anomalies of the appendix are extremely rare. They are usually found incidentally during operations other than appendectomies. Congenital appendix diverticula are even less frequent. Congenital caeco-appendiceal fistulae have not been reported until today. Herein, we present real diverticula of the appendix with multiple caeco-appendiceal fistulae which, to our knowledge, is the first in the literature.

Subclinical hypothyroidism: A common finding in adult patients with cyanotic congenital heart disease.

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Bak, Peter; Hjortshøj, Cristel S; Gaede, Peter; Idorn, Lars; Søndergaard, Lars; Jensen, Annette S

2018-03-01

Cyanotic congenital heart disease is a systemic disease, with effects on multiple organ systems. A high prevalence of subclinical hypothyroidism (SCH) has been reported in a small cohort of cyanotic congenital heart disease patients. Subclinical hypothyroidism has been associated with various adverse cardiovascular effects, as well as an increased risk of progression to overt hypothyroidism. The aim of this study was to examine the prevalence of SCH in cyanotic congenital heart disease patients, consider possible etiologies, and evaluate thyroid function over time. First, 90 clinically stable cyanotic congenital heart disease patients were examined with blood samples (thyroid-stimulating hormone, C-reactive protein, hemoglobin, hematocrit, and N-terminal pro-brain-natriuretic peptide) in a cross-sectional descriptive study. Second, a longitudinal follow-up study of 43 patients originating from the first study part, was carried out. These patients had thyroid function parameters (thyroid-stimulating hormone, thyroid hormones, and thyroid peroxidase antibodies) evaluated biannually. Elevated thyroid-stimulating hormone was present in 24% of the 90 screened patients. During follow-up (6.5 ± 1.0 years), SCH (defined as ≥2 consecutive elevated thyroid-stimulating hormone values) was present in 26%. Three patients progressed to overt hypothyroidism. Patients with SCH were younger (34 ± 12 vs 42 ± 16 years; P = .01) and had a lower oxygen saturation (80 ± 5 vs 84 ± 6%; P = .03). Subclinical hypothyroidism is a very common finding in cyanotic congenital heart disease. This is not associated with increased levels of C-reactive protein, heart failure, or autoimmunity but appears to be associated with cyanosis and age. Since the clinical impact of SCH is uncertain, further studies are needed to determine this. Regular thyroid evaluation is recommended in cyanotic congenital heart disease patients since SCH can develop to overt hypothyroidism. © 2017

The Total Artificial Heart in End-Stage Congenital Heart Disease.

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Villa, Chet R; Morales, David L S

2017-01-01

The development of durable ventricular assist devices (VADs) has improved mortality rates and quality of life in patients with end stage heart failure. While the use of VADs has increased dramatically in recent years, there is limited experience with VAD implantation in patients with complex congenital heart disease (CHD), despite the fact that the number of patients with end stage CHD has grown due to improvements in surgical and medical care. VAD use has been limited in patients with CHD and end stage heart failure due to anatomic (systemic right ventricle, single ventricle, surgically altered anatomy, valve dysfunction, etc.) and physiologic constraints (diastolic dysfunction). The total artificial heart (TAH), which has right and left sided pumps that can be arranged in a variety of orientations, can accommodate the anatomic variation present in CHD patients. This review provides an overview of the potential use of the TAH in patients with CHD.

Decision-making on terminating pregnancy for Muslim Arab women pregnant with fetuses with congenital anomalies: maternal affect and doctor-patient communication.

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Gesser-Edelsburg, Anat; Shahbari, Nour Abed Elhadi

2017-04-04

This study focused on decision-making on terminating pregnancy for Arab Muslim women in Israel who were pregnant with fetuses diagnosed with congenital anomalies. It examined the impact of the doctor-patient interaction on the women's decision, especially in light of social and religious pressures not to terminate under any circumstances. Our goal was to identify perceptions and attitudes of Muslim Arab women who choose to continue their pregnancy following the detection of congenital anomalies in prenatal tests. Specific objectives included (1) To examine the Muslim Arab women's perceptions on genetic testing, and ascertain the reasons for their decision to continue the pregnancy following the detection of a congenital anomaly in the fetus; and (2) To examine risk communication of gynecologists regarding genetic testing and abortions, and regarding the decision of continuing or terminating a pregnancy following detection of a congenital anomaly. The research framework used the constructivist classical qualitative method to understand the experience of women at high risk for congenital anomalies and their experience of how doctors communicate the risk. It showed that the emotional element is no less dominant than religious and social elements. The findings emphasized the disparities between doctors and women regarding emotional involvement (non-directive counselling). The women interviewees (N = 24) felt that this expressed insensitivity. As far as we know, the emotional component has not been raised in previous studies of Muslim women at high risk for congenital defects in their fetus, and therefore comprises a significant contribution of the present study. To mitigate gaps, doctors should take affect into consideration in their communication with patients. It is important for doctors to understand the emotional element in risk communication, both in how they respect women's emotions and in creating an emotional interaction between themselves and the women.

Assessment of congenital heart disease by a thallium-201 SPECT study in children

International Nuclear Information System (INIS)

Ishii, Iwao; Nakajima, Kenichi; Taki, Junichi; Taniguchi, Mitsuru; Bunko, Hisashi; Tonami, Norihisa; Hisada, Kinichi; Ohno, Takashi

1993-01-01

The characteristics of correlation between the right-to-left ventricular systolic pressure ratios (RVp/LVp) and the thallium-201 right-to-left ventricular ( 201 Tl R/L) count ratios was investigated in children with various congenital heart diseases. High-resolution three-headed SPECT system equipped with either parallel-hole or fan-beam collimators was used. In a total of 102 patients, the correlation between RVp/LVp and 201 Tl R/L average count ratios was good in both planar (r=0.89, p=0.0001) and SPECT studies (r=0.80, p=0.0001). Quantitative analysis of myocardial uptake by SPECT demonstrated the characteristic pattern of each disease as well as the differences in the right ventricular overload types. When the linear regression analysis was performed in each heart disease, ventricular septal defect showed most excellent correlation. Complex heart anomalies also showed positive correlation (r=0.51, p=0.05) with RVp/LVp, and it can be used to estimate right ventricular pressure. After surgical treatment of tetralogy of Fallot and pulmonary stenosis, the decrease of 201 Tl R/L count ratio was in accordance with improvement of right ventricular overload. We conclude that 201 Tl SPECT study can be a good indicator for estimation of right ventricular pressure. (author)

Exposure to air pollution and noise from road traffic and risk of congenital anomalies in the Danish National Birth Cohort

DEFF Research Database (Denmark)

Pedersen, Marie; Garne, Ester; Hansen-Nord, Nete

2017-01-01

BACKGROUND: Ambient air pollution has been associated with certain congenital anomalies, but few studies rely on assessment of fine-scale variation in air quality and associations with noise from road traffic are unexplored. METHODS: Among 84,218 liveborn singletons (1997-2002) from the Danish...... associated with these subgroups of anomalies as well as with an increased OR for orofacial cleft anomalies (1.17, 0.94-1.47). Inverse associations for several both air pollution and noise were observed for atrial septal defects (0.85, 0.68-1.04 and 0.81, 0.65-0.99, respectively). CONCLUSIONS: Residential...... road traffic exposure to noise or air pollution during pregnancy did not seem to pose a risk for development of congenital anomalies....

The evolving role of the total artificial heart in the management of end-stage congenital heart disease and adolescents.

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Ryan, Thomas D; Jefferies, John L; Zafar, Farhan; Lorts, Angela; Morales, David L S

2015-01-01

Advances in medical therapies have yielded improvement in morbidity and a decrease in mortality for patients with congenital heart disease, both surgically palliated and uncorrected. An unintended consequence is a cohort of adolescent and adult patients with heart failure who require alternative therapies. One intriguing option is placement of a total artificial heart (TAH) either as a bridge to transplant or as a destination therapy. Of the 1091 Jarvik-7 type TAH (Symbion, CardioWest and SynCardia) placed between 1985 and 2012, only 24 have been performed in patients with congenital heart disease, and a total of 51 were placed in patients younger than 21. At our institution, the SynCardia TAH was implanted in a 19-year-old patient with cardiac allograft failure because of chronic rejection and related multisystem organ failure including need for hemodialysis. Over the next year, she was nutritionally and physically rehabilitated, as were her end organs, allowing her to come off dialysis, achieve normal renal function and eventually be successfully transplanted. Given the continued growth of adolescent and adult congenital heart disease populations with end-stage heart failure, the TAH may offer therapeutic options where previously there were few. In addition, smaller devices such as the SynCardia 50/50 will open the door for applications in smaller children. The Freedom Driver offers the chance for patients to leave the hospital with a TAH, as does the AbioCor, which is a fully implantable TAH option. In this report, we review the history of the TAH and potential applications in adolescent patients and congenital heart disease.

Between invisible defects and visible impact: the life experiences of adolescents and young adults with congenital heart disease.

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Chiang, Yueh-Tao; Chen, Chi-Wen; Su, Wen-Jen; Wang, Jou-Kou; Lu, Chun-Wei; Li, Yuh-Fen; Moons, Philip

2015-03-01

To describe the life experiences of adolescents and young adults with congenital heart disease. Owing to medical advances, most children with congenital heart disease are expected to survive into adulthood. The transitional development from adolescence to adult is the critical period for fostering self-care. Descriptive phenomenological study. Thirty-five patients of 15-24 years old with congenital heart disease were recruited from paediatric cardiology clinics by purposive sampling. They were individually interviewed between October 2012-February 2013 using a semi-structured interview guideline and joined adult congenital heart disease clinics at two medical centres in northern Taiwan. The data were analysed using descriptive phenomenological method developed by Giorgi. The essence of the life experience of adolescents and young adults with congenital heart disease involves a dynamic process of moving between invisible defects and coexistence with the disease. Six themes emerged: (1) invisible defects: the existence of imperfect understanding; (2) conflict: interpersonal frustrations; (3) imbalance: the loss of self-balance; (4) suffering: increasing anxiety; (5) encounters: meeting needs; and (6) coexistence: positive coping strategies. As patients with congenital heart disease transition from adolescence into adulthood, they must learn about their disease, overcome frustration and anxiety and develop self-care strategies for coexisting with congenital heart disease. Results of this study may serve as clinical care guidelines for adolescents and young adults with congenital heart disease and give a reference for developing transitional intervention strategies. © 2014 John Wiley & Sons Ltd.