WorldWideScience

Sample records for human congenital disease

  1. 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 ...

  2. 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.)

  3. 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.

  4. 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.

  5. General Concepts in Adult Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    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

  6. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... 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 ...

  7. 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

  8. 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

  9. 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.

  10. 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.

  11. [Genetics of congenital heart diseases].

    Science.gov (United States)

    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.

  12. Adult Congenital Heart Disease: Scope of the Problem.

    Science.gov (United States)

    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.

  13. Genetics of Congenital Heart Disease: Past and Present.

    Science.gov (United States)

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2017-04-01

    Congenital heart disease is the most common congenital anomaly, representing an important cause of infant morbidity and mortality. Congenital heart disease represents a group of heart anomalies that include septal defects, valve defects, and outflow tract anomalies. The exact genetic, epigenetic, or environmental basis of congenital heart disease remains poorly understood, although the exact mechanism is likely multifactorial. However, the development of new technologies including copy number variants, single-nucleotide polymorphism, next-generation sequencing are accelerating the detection of genetic causes of heart anomalies. Recent studies suggest a role of small non-coding RNAs, micro RNA, in congenital heart disease. The recently described epigenetic factors have also been found to contribute to cardiac morphogenesis. In this review, we present past and recent genetic discoveries in congenital heart disease.

  14. Comorbid Conditions in Neonates With Congenital Heart Disease.

    Science.gov (United States)

    Krishnamurthy, Ganga; Ratner, Veniamin; Bacha, Emile; Aspelund, Gudrun

    2016-08-01

    The objectives of this review are to discuss the pathophysiology, clinical impact and treatment of major noncardiac anomalies, and prematurity in infants with congenital heart disease. MEDLINE and PubMed. Mortality risk is significantly higher in patients with congenital heart disease and associated anomalies compared with those in whom the heart defect occurs in isolation. Although most noncardiac structural anomalies do not require surgery in the neonatal period, several require surgery for survival. Management of such infants poses multiple challenges. Premature infants with congenital heart disease face challenges imposed by their immature organ systems, which are susceptible to injury or altered function by congenital heart disease and abnormal circulatory physiology independent of congenital heart disease. For optimal outcomes in premature infants or in infants with multiple congenital anomalies, a collaborative interdisciplinary approach is necessary.

  15. [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.

  16. Renal anomalies in congenital heart disease

    International Nuclear Information System (INIS)

    Lee, Byung Hee; Kim, In One; Yeon, Kyung Mo; Yoon, Yong Soo

    1987-01-01

    In general, the incidence of urinary tract anomalies in congenital heart disease is higher than that in general population. So authors performed abdominal cineradiography in 1045 infants and children undergoing cineangiographic examinations for congenital heart disease, as a screening method for the detection, the incidence, and the nature of associated urinary tract anomalies. The results were as follows: 1. The incidence of urinary tract anomaly associated with congenital heart disease was 4.1% (<2% in general population). 2. Incidence of urinary tract anomalies was 4.62% in 671 acyanotic heart diseases, 3.20% in 374 cyanotic heart diseases. 3. There was no constant relationship between the type of cardiac anomaly and the type of urinary tract anomaly

  17. 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...

  18. Survey of Pediatric Infectious Diseases Society Members About Congenital Chagas Disease.

    Science.gov (United States)

    Edwards, Morven S; Abanyie, Francisca A; Montgomery, Susan P

    2018-01-01

    Participants in a survey about congenital Chagas disease, distributed electronically to Pediatric Infectious Diseases Society members, perceived having limited knowledge about congenital Trypanosoma cruzi infection. Most rarely or never consider the diagnosis in infants born to parents from Latin America. Improved awareness of congenital Chagas disease and assessment of at-risk infants is needed.

  19. 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.

  20. 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.

  1. Modeling congenital disease and inborn errors of development in Drosophila melanogaster

    Science.gov (United States)

    Moulton, Matthew J.; Letsou, Anthea

    2016-01-01

    ABSTRACT Fly models that faithfully recapitulate various aspects of human disease and human health-related biology are being used for research into disease diagnosis and prevention. Established and new genetic strategies in Drosophila have yielded numerous substantial successes in modeling congenital disorders or inborn errors of human development, as well as neurodegenerative disease and cancer. Moreover, although our ability to generate sequence datasets continues to outpace our ability to analyze these datasets, the development of high-throughput analysis platforms in Drosophila has provided access through the bottleneck in the identification of disease gene candidates. In this Review, we describe both the traditional and newer methods that are facilitating the incorporation of Drosophila into the human disease discovery process, with a focus on the models that have enhanced our understanding of human developmental disorders and congenital disease. Enviable features of the Drosophila experimental system, which make it particularly useful in facilitating the much anticipated move from genotype to phenotype (understanding and predicting phenotypes directly from the primary DNA sequence), include its genetic tractability, the low cost for high-throughput discovery, and a genome and underlying biology that are highly evolutionarily conserved. In embracing the fly in the human disease-gene discovery process, we can expect to speed up and reduce the cost of this process, allowing experimental scales that are not feasible and/or would be too costly in higher eukaryotes. PMID:26935104

  2. Congenital Heart Disease: Vascular Risk Factors and Medication

    NARCIS (Netherlands)

    H.P.M. Smedts (Dineke)

    2011-01-01

    textabstractCongenital heart disease (CHD) is among the most common congenital abnormalities and involves structural anomalies of the heart and/or related major blood vessels. Congenital heart disease arises in the fi rst trimester of pregnancy, occurring often and in many forms. The reported CHD

  3. 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

  4. 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.

  5. 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.

  6. Congenital candidiasis as a subject of research in medicine and human ecology.

    Science.gov (United States)

    Skoczylas, Michał M; Walat, Anna; Kordek, Agnieszka; Loniewska, Beata; Rudnicki, Jacek; Maleszka, Romuald; Torbé, Andrzej

    2014-01-01

    Congenital candidiasis is a severe complication of candidal vulvovaginitis. It occurs in two forms,congenital mucocutaneous candidiasis and congenital systemic candidiasis. Also newborns are in age group the most vulnerable to invasive candidiasis. Congenital candidiasis should be considered as an interdisciplinary problem including maternal and fetal condition (including antibiotic therapy during pregnancy), birth age and rare genetic predispositions as severe combined immunodeficiency or neutrophil-specific granule deficiency. Environmental factors are no less important to investigate in diagnosing, treatment and prevention. External factors (e.g., food) and microenvironment of human organism (microflora of the mouth, intestine and genitalia) are important for solving clinical problems connected to congenital candidiasis. Physician knowledge about microorganisms in a specific compartments of the microenvironment of human organism and in the course of defined disorders of homeostasis makes it easier to predict the course of the disease and allows the development of procedures that can be extremely helpful in individualized diagnostic and therapeutic process.

  7. 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.

  8. 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

  9. 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)

  10. 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...

  11. MR imaging of congenital heart disease

    International Nuclear Information System (INIS)

    Kersting-Sommerhoff, B.A.; Diethelm, L.; Teitel, D.F.; Sommerhoff, C.P.; Higgins, C.B.

    1988-01-01

    Sensitivity and specificity of MR imaging for the evaluation of congenital heart disease was assessed in 51 patients (31 male and 20 female, aged 3-69 years), with a total of 115 congenital heart lesions. The true diagnosis was established by angiocardiography, catheterization, or surgery. Sensitivity at a specificity level of 90% was determined by means of receiver operating characteristic curves for great vessel relationships (100%), thoracic aorta anomalies (94%), atrial (91%) and ventricular (100%) septal defects, visceroatrial situs (100%), loop (100%), right ventricular outflow obstructions (95%), aortic valve (52%), mitral valve (62%), and tricuspid valve (76%). Spin-echo MR imaging is a reliable method for the noninvasive evaluation of congenital heart disease but is limited in the assessment of some valvular anomalies

  12. Heart transplantation in adults with congenital heart disease.

    Science.gov (United States)

    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.

  13. 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.

  14. 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

  15. 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

  16. 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

  17. 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

  18. 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

  19. 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

  20. 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

  1. Intraventricular Hemorrhage in Moderate to Severe Congenital Heart Disease.

    Science.gov (United States)

    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

  2. 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

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

    Science.gov (United States)

    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.

  4. 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)

  5. 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.

  6. Congenital diseases and syndromes. An illustrated radiological guide

    Energy Technology Data Exchange (ETDEWEB)

    Al-Tubaikh, Jarrah Ali [Universitaetsklinikum Muenchen, Klinikum Grosshadern (Germany). Inst. fuer Klinische Radiologie; Sabah Hospital (Kuwait). Dept. of Diagnostic Radiology; Reiser, Maximilian F. [Universitaetsklinikum Muenchen, Klinikum Grosshadern (Germany). Inst. fuer Klinische Radiologie

    2009-07-01

    Congenital Diseases and Syndromes - An Illustrated Radiological Guide is designed to serve the radiologist as an easy-to-use visual guide that illustrates the typical diagnostic radiological features of the most common congenital diseases and syndromes. The book is organised according to body system, with chapters focusing on the CNS, the head and neck, the chest and heart, the abdomen and pelvis, and the musculoskeletal system. A final chapter is devoted to phakomatosis. Each syndrome or disease is illustrated by multiple images as well as by high-quality digital medical illustrations depicting those radiological signs that are difficult to detect. The reader is thereby familiarised with the various congenital anomalies from the radiological point of view. In addition, etiology, diagnostic criteria, and main symptoms are described, and potential differential diagnoses highlighted. This book will be immensely useful for junior radiologists, radiology students, and doctors in any specialty who are interested in congenital malformations and syndromes. (orig.)

  7. Congenital diseases and syndromes. An illustrated radiological guide

    International Nuclear Information System (INIS)

    Al-Tubaikh, Jarrah Ali; Sabah Hospital; Reiser, Maximilian F.

    2009-01-01

    Congenital Diseases and Syndromes - An Illustrated Radiological Guide is designed to serve the radiologist as an easy-to-use visual guide that illustrates the typical diagnostic radiological features of the most common congenital diseases and syndromes. The book is organised according to body system, with chapters focusing on the CNS, the head and neck, the chest and heart, the abdomen and pelvis, and the musculoskeletal system. A final chapter is devoted to phakomatosis. Each syndrome or disease is illustrated by multiple images as well as by high-quality digital medical illustrations depicting those radiological signs that are difficult to detect. The reader is thereby familiarised with the various congenital anomalies from the radiological point of view. In addition, etiology, diagnostic criteria, and main symptoms are described, and potential differential diagnoses highlighted. This book will be immensely useful for junior radiologists, radiology students, and doctors in any specialty who are interested in congenital malformations and syndromes. (orig.)

  8. 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.)

  9. 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.

  10. 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.

  11. 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

  12. Hypertension, obesity, and coronary artery disease in the survivors of congenital heart disease.

    Science.gov (United States)

    Roche, S Lucy; Silversides, Candice K

    2013-07-01

    Obesity, hypertension, and coronary artery disease are prevalent in the general population and well recognized as contributors to cardiac morbidity and mortality. With surgical and medical advances, there is a growing and aging population with congenital heart disease who are also at risk of developing these comorbidities. In addition, some congenital cardiac lesions predispose patients to conditions such as hypertension or coronary artery disease. The effect of these comorbidities on the structurally abnormal heart is not well understood, but might be very important, especially in those with residual abnormalities. Thus, in addition to surveillance for and treatment of late complications it is important for the congenital cardiologist to consider and aggressively manage acquired comorbidities. In this review we explore the prevalence of hypertension, obesity, and coronary artery disease, discuss congenital lesions that predispose to these conditions and review management strategies for this unique population. Copyright © 2013 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  13. [Pulmonary hypertension associated with congenital heart disease and Eisenmenger syndrome].

    Science.gov (United States)

    Calderón-Colmenero, Juan; Sandoval Zárate, Julio; Beltrán Gámez, Miguel

    2015-01-01

    Pulmonary arterial hypertension is a common complication of congenital heart disease (CHD). Congenital cardiopathies are the most frequent congenital malformations. The prevalence in our country remains unknown, based on birthrate, it is calculated that 12,000 to 16,000 infants in our country have some cardiac malformation. In patients with an uncorrected left-to-right shunt, increased pulmonary pressure leads to vascular remodeling and endothelial dysfunction secondary to an imbalance in vasoactive mediators which promotes vasoconstriction, inflammation, thrombosis, cell proliferation, impaired apotosis and fibrosis. The progressive rise in pulmonary vascular resistance and increased pressures in the right heart provocated reversal of the shunt may arise with the development of Eisenmenger' syndrome the most advanced form de Pulmonary arterial hypertension associated with congenital heart disease. The prevalence of Pulmonary arterial hypertension associated with CHD has fallen in developed countries in recent years that is not yet achieved in developing countries therefore diagnosed late as lack of hospital infrastructure and human resources for the care of patients with CHD. With the development of targeted medical treatments for pulmonary arterial hypertension, the concept of a combined medical and interventional/surgical approach for patients with Pulmonary arterial hypertension associated with CHD is a reality. We need to know the pathophysiological factors involved as well as a careful evaluation to determine the best therapeutic strategy. Copyright © 2014 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

  14. 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.

  15. 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

  16. 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.

  17. 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.

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

    Science.gov (United States)

    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.

  19. [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

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

    Science.gov (United States)

    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.

  1. [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.

  2. 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.)

  3. Congenital dilatation of the large and segmental intrahepatic bile ducts (Caroli's disease in two Golden retriever littermates : clinical communication

    Directory of Open Access Journals (Sweden)

    R.D. Last

    2006-06-01

    Full Text Available Two, sibling, male Golden retriever puppies, 13 weeks of age, were presented with congenital biliary cysts of the liver involving both hepatic and segmental bile ducts, as well as bilateral polycystic kidney disease. Ultrasonography of the livers of both pups demonstrated segmental cystic lesions that were contiguous with the bile ducts. Histopathology revealed cystic ectatic bile duct hyperplasia and dysplasia with variable portal fibrosis in the liver, while in the kidneys there were radially arranged, cylindrically dilated cysts of the collecting ducts, which extended through the medulla and cortex. This pathology was compatible with that of congenital dilatation of the large and segmental bile ducts (Caroli's disease described in humans, dogs and rats. In humans Caroli's disease has an autosomal recessive inheritance pattern, while in rats activation of the MEK5/ERK cascade initiates the biliary dysgenesis of Caroli's disease in this species. However, the exact mode of inheritance and pathogenesis of Caroli's disease in dogs is as yet unknown. Previous reports on congenital hepatic cystic diseases of the dog have described Caroli's disease like lesions in various breeds, but these are believed to be the 1st reported cases in the Golden retriever breed.

  4. The heart: Congenital disease

    International Nuclear Information System (INIS)

    Higgins, C.B.

    1987-01-01

    The most important diagnostic requirement in congenital heart disease (CHD) is definition of cardiovascular pathoanatomy. The considerable success in operative correction of even the most complex anomalies in recent years compels ever increasing precision in preoperative demonstration of these anomalies. Early experience with magnetic resonance imaging (MRI) at several institutions indicated that this modality is an effective noninvasive technique for evaluation of CHD. Indeed, MRI seems to have some advantage over other techniques, including angiography, for definitive diagnosis of congenital anomalies of the heart and great arteries and veins. The absence of ionizing radiation and contrast medium in MRI is an additional advantage; the former is particularly important for children, who, up to this time, have frequently been subjected to enormous radiation burdens from multiple cineangiograms during initial diagnosis and follow-up. This chapter describes the MRI appearance of cardiovascular anatomy im the segmental fashion proposed for analysis of complex CHD. Likewise, MRI demonstration of congenital cardiovascular lesions is organized into abnormalities situated at the four segmental cardiovascular levels: great vessels, atria, ventricles, and visceroatrial relationship. The role of MRI in evaluation of complex ventricular anomalies such as single ventricle and thoracic aortic abnormalities is specifically described

  5. 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

  6. 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

  7. Quality of Life and Congenital Heart Disease in Childhood and Adolescence

    Energy Technology Data Exchange (ETDEWEB)

    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.

  8. 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

  9. Congenital heart disease protein 5 associates with CASZ1 to maintain myocardial tissue integrity.

    Science.gov (United States)

    Sojka, Stephen; Amin, Nirav M; Gibbs, Devin; Christine, Kathleen S; Charpentier, Marta S; Conlon, Frank L

    2014-08-01

    The identification and characterization of the cellular and molecular pathways involved in the differentiation and morphogenesis of specific cell types of the developing heart are crucial to understanding the process of cardiac development and the pathology associated with human congenital heart disease. Here, we show that the cardiac transcription factor CASTOR (CASZ1) directly interacts with congenital heart disease 5 protein (CHD5), which is also known as tryptophan-rich basic protein (WRB), a gene located on chromosome 21 in the proposed region responsible for congenital heart disease in individuals with Down's syndrome. We demonstrate that loss of CHD5 in Xenopus leads to compromised myocardial integrity, improper deposition of basement membrane, and a resultant failure of hearts to undergo cell movements associated with cardiac formation. We further report that CHD5 is essential for CASZ1 function and that the CHD5-CASZ1 interaction is necessary for cardiac morphogenesis. Collectively, these results establish a role for CHD5 and CASZ1 in the early stages of vertebrate cardiac development. © 2014. Published by The Company of Biologists Ltd.

  10. 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

  11. [Congenital hyperthyroidism in maternal Basedow disease].

    Science.gov (United States)

    Meden, H; Rath, W

    1989-09-01

    A case of congenital hyperthyroidism, after pregnancy complicated by Graves' disease is presented. Fetal tachycardia was the cardial symptom. Caesarean section was performed in the 29 years old patient with normal thyroid function in the 29th week of pregnancy. The neonate showed symptoms of a congenital hyperthyroidism with goitre. Antithyroid antibodies were found in the serum of both mother and child. At the age of ten weeks, after a short course of thyrostatic treatment, the infant was discharged with normal thyroid function following complicationfree progress.

  12. A new disease? Persistent isolated beta.hydroxybutyrate ketosis and mild congenital hyperinsulinism

    DEFF Research Database (Denmark)

    Christesen, Henrik Thybo; Brusgaard, Klaus; Ditkovskaya, L

    A new disease? Persistent isolated beta.hydroxybutyrate ketosis and mild congenital hyperinsulinism.......A new disease? Persistent isolated beta.hydroxybutyrate ketosis and mild congenital hyperinsulinism....

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

    Science.gov (United States)

    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.

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

    Science.gov (United States)

    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.

  15. Prevalence of congenital anomalies in newborns with congenital heart disease diagnosis

    International Nuclear Information System (INIS)

    Egbe, Alexander; Lee, Simon; Ho, Deborah; Uppu, Santosh; Srivastava, Shubhika

    2014-01-01

    There is a known association between congenital heart disease (CHD) and other congenital anomalies (CA). These associations have been altered by changes in prenatal factors in recent time. We reviewed the largest database of inpatient hospitalization information and analyzed the current association between common CHD diagnoses and other congenital anomalies. Case-control study design. We reviewed the Nationwide Inpatient Sample (NIS) database from 1998 to 2008 and identified all live births with CHD diagnosis (case) and live births without CHD diagnosis (control). We compared prevalence of associated congenital anomalies between the case and control groups. Our cohort consisted of 97,154 and 12,078,482 subjects in the case and control groups, respectively. In the CHD population, prevalence of non-syndromic congenital anomaly (NSCA), genetic syndrome (GS), and overall extra-cardiac congenital anomaly (CA) were 11.4, 2.2, and 13.6%, respectively. In the control group, prevalence of NSCA, GS, and CA were 6.7, 0.3, and 7.0%, respectively. NSCA (odds ratio (OR): 1.88, confidence interval (CI): 1.73-1.94), GS (OR 2.52, CI 2.44-2.61), and overall CA (OR: 2.01, CI: 1.97-2.14) were strongly associated with CHD. Prevalence of GS and multiple organ-system CA decreased significantly over the study period. This is the largest and most comprehensive population-based study evaluating association between CHD and extra-cardiac malformation (ECM) in newborns. There was significant decrease in prevalence of GS and multiple CA over the study period

  16. 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....

  17. 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.

  18. 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

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

    Science.gov (United States)

    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.

  20. 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

  1. 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.

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

    Science.gov (United States)

    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

  3. Spectrum Of Congenital Heart Disease In Full Term Neonates.

    Science.gov (United States)

    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

  4. Sickle Cell Disease with Cyanotic Congenital Heart Disease: Long-Term Outcomes in 5 Children.

    Science.gov (United States)

    Iannucci, Glen J; Adisa, Olufolake A; Oster, Matthew E; McConnell, Michael; Mahle, William T

    2016-12-01

    Sickle cell disease is a risk factor for cerebrovascular accidents in the pediatric population. This risk is compounded by hypoxemia. Cyanotic congenital heart disease can expose patients to prolonged hypoxemia. To our knowledge, the long-term outcome of patients who have combined sickle cell and cyanotic congenital heart disease has not been reported. We retrospectively reviewed patient records at our institution and identified 5 patients (3 girls and 2 boys) who had both conditions. Their outcomes were uniformly poor: 4 died (age range, 12 mo-17 yr); 3 had documented cerebrovascular accidents; and 3 developed ventricular dysfunction. The surviving patient had developmental delays. On the basis of this series, we suggest mitigating hypoxemia, and thus the risk of stroke, in patients who have sickle cell disease and cyanotic congenital heart disease. Potential therapies include chronic blood transfusions, hydroxyurea, earlier surgical correction to reduce the duration of hypoxemia, and heart or bone marrow transplantation.

  5. 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.

  6. 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)

  7. Variations of CITED2 are associated with congenital heart disease (CHD in Chinese population.

    Directory of Open Access Journals (Sweden)

    Yan Liu

    Full Text Available CITED2 was identified as a cardiac transcription factor which is essential to the heart development. Cited2-deficient mice showed cardiac malformations, adrenal agenesis and neural crest defects. To explore the potential impact of mutations in CITED2 on congenital heart disease (CHD in humans, we screened the coding region of CITED2 in a total of 700 Chinese people with congenital heart disease and 250 healthy individuals as controls. We found five potential disease-causing mutations, p.P140S, p.S183L, p.S196G, p.Ser161delAGC and p. Ser192_Gly193delAGCGGC. Two mammalian two-hybrid assays showed that the last four mutations significantly affected the interaction between p300CH1 and CITED2 or HIF1A. Further studies showed that four CITED2 mutations recovered the promoter activity of VEGF by decreasing its competitiveness with HIF1A for binding to p300CH1 and three mutations decreased the consociation of TFAP2C and CITED2 in the transactivation of PITX2C. Both VEGF and PITX2C play very important roles in cardiac development. In conclusion, we demonstrated that CITED2 has a potential causative impact on congenital heart disease.

  8. 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

  9. 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

  10. Prevalence of Dyslipidemia in Children with Congenital Heart Disease

    Energy Technology Data Exchange (ETDEWEB)

    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.

  11. 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.

  12. 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.

  13. 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

  14. 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.

  15. Congenital and Genetic Disease in Domestic Animals

    Science.gov (United States)

    Mulvihill, John J.

    1972-01-01

    Reviews observations on domestic animals that have led to the identification of environmental teratogens, and have provided insight into the pathogenesis of congenital defects and genetic diseases in man." (Author/AL)

  16. 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.

  17. Tracheal quadrifurcation associated with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    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.)

  18. Congenital heart disease in the dog

    International Nuclear Information System (INIS)

    Matic, S.E.

    1988-01-01

    The clinical findings and investigation of dogs with congenital cardiac disease is described and the role of diagnostic aids including radiography, electrocardiography and echocardiography is outlined. The physical findings, prognosis and therapy of the common defects are reviewed and their aetiology is briefly discussed

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

    Directory of Open Access Journals (Sweden)

    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.

  20. 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.

  1. 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.

  2. Cyanotic congenital heart disease and atherosclerosis.

    Science.gov (United States)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

  5. You are never too old for a congenital disease!

    Directory of Open Access Journals (Sweden)

    Mukul Khanna

    2013-12-01

    Full Text Available Congenital diseases are sometimes overlooked by physicians because of their rarity or because of late onset of symptoms, which may delay treatment plans. This is illustrated in our patient who presented with dysphagia along with chest pain and who was found to have a congenital vascular anomaly, detected in her fifth decade of life.

  6. 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.  

  7. Congenital heat disease

    International Nuclear Information System (INIS)

    Higgins, C.B.; Silverman, N.H.; Kersting-Somerhoff, B.A.

    1990-01-01

    The book covers the tomographic anatomy of the normal and congenitally malformed heart and tomographic imaging of the normal heat. It then compares echocardiographic evaluation and the use of MR imaging in the diagnosis and evaluation of individual congenital cardiac malformations

  8. [Medical and surgical health care for congenital heart disease: a panoramic vision of the reality in Mexico. Inquiry 2009].

    Science.gov (United States)

    Calderón-Colmenero, Juan; De-la-Llata, Manuel; Vizcaíno, Alfredo; Ramírez, Samuel; Bolio, Alejandro

    2011-01-01

    The only way to characterize the Mexican problem related to congenital heart disease care is promoting the creation of a national database for registering the organization, resources, and related activities. The Health Secretary of Mexico adopted a Spanish registration model to design a survey for obtaining a national Mexican reference in congenital heart disease. This survey was distributed to all directors of medical and/or surgical health care centers for congenital heart disease in Mexico. This communication presents the results obtained in relation to organization, resources and activities performed during the last year 2009. From the 22 health care centers which answered the survey 10 were reference centers (45%) and 12 were assistant centers (55%). All of them are provided with cardiologic auxiliary diagnostic methods. Except one, all centers have at least one bidimentional echocardiography apparatus. There is a general deficit between material and human resources detected in our study. Therapeutic actions for congenital heart disease (70% surgical and 30% therapeutical interventionism) show a clear centralization tendency for this kind of health care in Mexico City, Monterrey and finally Guadalajara. Due to the participation of almost all cardiac health centers in Mexico, our study provides an important information related to organization, resources, and medical and/or surgical activities for congenital heart disease. The data presented not only show Mexican reality, but allows us to identify better the national problematic for establishing priorities and propose solution alternatives.

  9. 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.

  10. 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.

  11. 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.

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

    Directory of Open Access Journals (Sweden)

    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

  13. 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.

  14. Radiological findings in congenital cystic disease of the lung in infancy

    International Nuclear Information System (INIS)

    Heymer, R.; Benz-Bohm, G.; Arnold, G.; Koeln Univ.

    1982-01-01

    Three infants with congenital cystic disease of the lung are described. They consisted of a solitary bronchial cyst, an adenomatous cystic malformation and congenital lobar emphysema. The radiological appearance and differential diagnosis of these three conditions are discussed. (orig.) [de

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

    Science.gov (United States)

    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.

  16. Congenital central hypoventilation syndrome mimicking mitochondrial disease.

    Science.gov (United States)

    Rojnueangnit, Kitiwan; Descartes, Maria

    2018-03-01

    Later-onset congenital central hypoventilation syndrome (LO-CCHS) does not present only breathing problems but can be present as episodic multiple organs involvement. Our unique case demonstrated LO-CCHS should be considered in the differential diagnosis of mitochondrial diseases and having nontypical polysomnography result.

  17. Congenital Muscle Disease Study of Patient and Family Reported Medical Information

    Science.gov (United States)

    2017-05-05

    Congenital Muscular Dystrophy (Including Unspecified/Undiagnosed); Dystroglycanopathy; Congenital Fiber Type Disproportion; Rigid Spine Muscular Dystrophy; Congenital Myopathy (Including Unspecified/Undiagnosed); Collagen VI CMD (Ullrich CMD, Intermediate, Bethlem Myopathy); Laminin Alpha 2 Related Congenital Muscular Dystrophy; LAMA2-CMD/Merosin Deficient/MDC1A; Walker-Warburg Syndrome; Muscle-Eye-Brain Disease; Fukuyama/Fukutin Related Muscular Dystrophy; Integrin Alpha 7 Deficiency; Integrin Alpha 9 Deficiency; LMNA-CMD/Lamin A/C/Laminopathy; SEPN1-Related Myopathy; Bethlem Myopathy; Actin Aggregation Myopathy; Cap Disease; Central Core Disease; Centronuclear Myopathy; Core Rod Myopathy; Hyaline Body Myopathy; Multiminicore Myopathy; Myotubular Myopathy; Nemaline Myopathy; Tubular Aggregate Myopathy; Zebra Body Myopathy; Reducing Body Myopathy; Spheroid Body Myopathy; LGMD1B (LMNA); LGMD1E (DES); LGMD2G (TCAP); LGMD2H (TRIM32); LGMD2I (FKRP); LGMD2J (TTN); LGMD2K (POMT1); LGMD2M (FKTN); LGMD2N (POMT2); LGMD2O (POMGnT1); LGMD2P (DAG1); LGMD2Q (PLEC1); LGMD2R (DES); LGMD2S (TRAPPC11); LGMD2T (GMPPB); LGMD2U (ISPD); LGMD2V (GAA); Ullrich Congenital Muscular Dystrophy; Titinopathy; Choline Kinase B Receptor; Emery-Dreifuss Muscular Dystrophy; RYR1 Related Myopathy; SYNE1/Nesprin Related Muscular Dystrophy; Telethonin Related Muscular Dystrophy (TCAP/Titin-Cap); Congenital Myasthenic Syndrome; Escobar Syndrome; Myofibrillar Myopathy; Malignant Hyperthermia; Alpha-Dystroglycan Related Muscular Dystrophy (DAG1, DPM1, DPM2, DPM3, FKRP, FKTN); Alpha-Dystroglycan Related Muscular Dystrophy (GAA, ISPD, LARGE, POMT1, POMT2, POMGnT1); Alpha-Dystroglycan Related Muscular Dystrophy (Unspecified/Undiagnosed/Other)

  18. 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...

  19. 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.

  20. Nomenclature for congenital and paediatric cardiac disease: the International Paediatric and Congenital Cardiac Code (IPCCC) and the Eleventh Iteration of the International Classification of Diseases (ICD-11).

    Science.gov (United States)

    Franklin, Rodney C G; Béland, Marie J; Colan, Steven D; Walters, Henry L; Aiello, Vera D; Anderson, Robert H; Bailliard, Frédérique; Boris, Jeffrey R; Cohen, Meryl S; Gaynor, J William; Guleserian, Kristine J; Houyel, Lucile; Jacobs, Marshall L; Juraszek, Amy L; Krogmann, Otto N; Kurosawa, Hiromi; Lopez, Leo; Maruszewski, Bohdan J; St Louis, James D; Seslar, Stephen P; Srivastava, Shubhika; Stellin, Giovanni; Tchervenkov, Christo I; Weinberg, Paul M; Jacobs, Jeffrey P

    2017-12-01

    An internationally approved and globally used classification scheme for the diagnosis of CHD has long been sought. The International Paediatric and Congenital Cardiac Code (IPCCC), which was produced and has been maintained by the International Society for Nomenclature of Paediatric and Congenital Heart Disease (the International Nomenclature Society), is used widely, but has spawned many "short list" versions that differ in content depending on the user. Thus, efforts to have a uniform identification of patients with CHD using a single up-to-date and coordinated nomenclature system continue to be thwarted, even if a common nomenclature has been used as a basis for composing various "short lists". In an attempt to solve this problem, the International Nomenclature Society has linked its efforts with those of the World Health Organization to obtain a globally accepted nomenclature tree for CHD within the 11th iteration of the International Classification of Diseases (ICD-11). The International Nomenclature Society has submitted a hierarchical nomenclature tree for CHD to the World Health Organization that is expected to serve increasingly as the "short list" for all communities interested in coding for congenital cardiology. This article reviews the history of the International Classification of Diseases and of the IPCCC, and outlines the process used in developing the ICD-11 congenital cardiac disease diagnostic list and the definitions for each term on the list. An overview of the content of the congenital heart anomaly section of the Foundation Component of ICD-11, published herein in its entirety, is also included. Future plans for the International Nomenclature Society include linking again with the World Health Organization to tackle procedural nomenclature as it relates to cardiac malformations. By doing so, the Society will continue its role in standardising nomenclature for CHD across the globe, thereby promoting research and better outcomes for fetuses

  1. 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...

  2. Congenital Chagas disease as an ecological model of interactions between Trypanosoma cruzi parasites, pregnant women, placenta and fetuses.

    Science.gov (United States)

    Carlier, Yves; Truyens, Carine

    2015-11-01

    The aim of this paper is to discuss the main ecological interactions between the parasite Trypanosoma cruzi and its hosts, the mother and the fetus, leading to the transmission and development of congenital Chagas disease. One or several infecting strains of T. cruzi (with specific features) interact with: (i) the immune system of a pregnant woman whom responses depend on genetic and environmental factors, (ii) the placenta harboring its own defenses, and, finally, (iii) the fetal immune system displaying responses also susceptible to be modulated by maternal and environmental factors, as well as his own genetic background which is different from her mother. The severity of congenital Chagas disease depends on the magnitude of such final responses. The paper is mainly based on human data, but integrates also complementary observations obtained in experimental infections. It also focuses on important gaps in our knowledge of this congenital infection, such as the role of parasite diversity vs host genetic factors, as well as that of the maternal and placental microbiomes and the microbiome acquisition by infant in the control of infection. Investigations on these topics are needed in order to improve the programs aiming to diagnose, manage and control congenital Chagas disease. Copyright © 2015 The Authors. Published by Elsevier B.V. All rights reserved.

  3. Sexual functioning is impaired in adults with congenital heart disease

    NARCIS (Netherlands)

    P. Opic (Petra); J.W. Roos-Hesselink (Jolien); J.A.A.E. Cuypers (Judith); M. Witsenburg (Maarten); A.E. van den Bosch (Annemien); R.T. van Domburg (Ron); A.J.J.C. Bogers (Ad); E.M.W.J. Utens (Elisabeth)

    2013-01-01

    textabstractBackground: To investigate the overall sexual functioning and disease specific sexual problems in congenital heart disease (ConHD) patients, for both genders and different cardiac diagnostic groups, and compare these with Dutch normative data. Also disease specific sexual problems were

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

    Science.gov (United States)

    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.

  5. "CONGENTIAL PANHYPOPITUITARISM ASSOCIATED WITH IMPAIRED LIVER FUNCTION TESTS AND CONGENITAL HEART DISEASE"

    Directory of Open Access Journals (Sweden)

    Z. Khalili-Matinzadeh

    2006-06-01

    Full Text Available The term congenital hypopituitarism defines deficiency of all of the pituitary hormones. Hypoglycemia and microphallus (in males are common findings, and some infants have shown evidence of the neonatal hepatitis syndrome. We report a case of congenital panhypopituitarism with deficiency of six major hormones and association with severe hypoglycemia, impaired liver function tests and congenital heart disease.

  6. 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.

  7. Outcome after cardiopulmonary resuscitation in patients with congenital heart disease.

    Science.gov (United States)

    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.

  8. 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

  9. The disease burden of congenital toxoplasmosis in Denmark, 2014

    DEFF Research Database (Denmark)

    Nissen, Ioanna; Jokelainen, Pikka; Stensvold, Christen Rune

    2017-01-01

    Congenital toxoplasmosis (CT) causes a substantial disease burden worldwide. The aim of this study was to estimate the disease burden of CT in Denmark, a developed country with free public healthcare and nationwide data available. Using data primarily from two public health surveillance programmes...

  10. Incidence of Congenital Heart Diseases Anomalies in Newborns with Oral Clefts, Zahedan, Iran

    OpenAIRE

    Noor Mohammad Noori; Alireza Teimouri; Tahereh Boryri; Sirous Risbaf Fakour; Fateme Shahramian

    2016-01-01

    Background Oral cleft is the most common orofacial congenital anomaly among live births. This anomaly at birth is one of the main causes of children disability and mortality.  Congenital heart disease (CHD) is one of the most common anomalies in oral clefts.  This study aimed to assess the incidence of congenital heart diseases anomalies in newborns with oral clefts. Materials and Methods This study performed on 48,692 live born to estimate incidence of oral clefts from 1 st December 2013 to ...

  11. Sexual functioning is impaired in adults with congenital heart disease

    NARCIS (Netherlands)

    Opić, Petra; Roos-Hesselink, Jolien W.; Cuypers, Judith A. A. C.; Witsenburg, Maarten; van den Bosch, Annemien; van Domburg, Ron T.; Bogers, Ad J. J. C.; Utens, Elisabeth M. W. J.

    2013-01-01

    To investigate the overall sexual functioning and disease specific sexual problems in congenital heart disease (ConHD) patients, for both genders and different cardiac diagnostic groups, and compare these with Dutch normative data. Also disease specific sexual problems were investigated. From a

  12. 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

  13. The Adult Congenital and Pediatric Cardiology Section: increasing the opportunities for the congenital heart disease community within the American College of Cardiology.

    Science.gov (United States)

    Martin, Gerard R; Mitchell, Stephanie; Beekman, Robert H; Feinstein, Jeffrey A; Jenkins, Kathy J; Landzberg, Michael; Webb, Gary

    2012-01-03

    The Adult Congenital and Pediatric Cardiology (AC/PC) Section was established to develop a clear voice within the American College of Cardiology and address the myriad issues facing the congenital heart disease profession. The Section is governed by the AC/PC Council, which includes pediatric cardiologists, adult congenital cardiologists, a cardiac care associate, and a fellow-in-training member. The Council is responsible for bidirectional communication between the College's Board of Trustees and the AC/PC Section members. Since its founding in 2004, Section objectives have been defined by the College's mission: to advocate for quality cardiovascular care through education, research promotion, and the development and application of standards and guidelines and to influence health care policy. The pillars of the College-advocacy, quality, education, and member engagement-serve as the defining template for the Section's strategy. The Section has developed work groups in advocacy, clinical practice, education and training, quality, and publications. A separate leadership group has been developed for adult congenital heart disease. Work groups are open to all Section members. Recognition of the importance of lifelong care in congenital heart disease led Section leaders to incorporate pediatric cardiology and adult congenital heart disease content into each of the work groups. There are more than 1,200 Section members, with nearly 400 members actively contributing to Section activities. This article outlines Section efforts to date and highlights significant successes to date. Copyright © 2012 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

    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.

  15. 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.

  16. 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.

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

    Science.gov (United States)

    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.

  18. 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

  19. 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.…

  20. 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.

  1. 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.

  2. 3D Printing is a Transformative Technology in Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    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

  3. 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

  4. Predictors of postnatal complications and congenital cardiac diseases in infants of mothers with pregestational and gestational diabetes.

    Science.gov (United States)

    Demirpençe, Savaş; Demirpençe, Banu İnce; Meşe, Timur; Arslanoğlu, Sertaç; Tavlı, Vedide; Çalkavur, Şebnem; Olukman, Özgür; Firuzan, Ali Rıza

    2014-12-01

    In this study, we aimed to evaluate the postnatal problems of infants of mothers with pregestational and gestational diabetes and the clinical properties of infants who were found to have congenital cardiac disease. We retrospectively examined the records of 337 newborns who were followed up with a diagnosis of infant of diabetic mother between January 2010 and January 2012 in our Neonatology Unit. The demographic data of the diabetic mothers and their babies, the postnatal problems of the babies of diabetic mothers and congenital heart diseases found on transthoracic echocardiography were examined. The patients were classified as group A, B and C in accordance with the recommendations of The American Congress of Obstetricians and Gynecologists (ACOG) according to the type of diabetes. The most common postnatal problems included hyperbilirubinemia, respiratory distress, hypoglycemia and hypocalcemia. The rate of congenital heart disease was found be 17.3% in group A, 50% in group B and 9% in group C. No correlation was found between congenital heart disease and gender, multiple pregnancy, diabetes type, diet treatment, use of oral antidiabetic drugs and drug usage. A positive significant correlation was found between congenital heart disease and genetic disease, murmur, cyanosis and presence of gestational hypertension. It was shown that use of insulin, genetic disease and presence of gestational diabetes increased the risk of congenital heart disease. In our study, the overall incidence of congenital heart disease was found to be 24% in infants of diabetic mothers. It should be kept in mind that it is important to investigate the infants of mothers with pregestational and gestational diabetes in terms of the risk of congenital heart disease.

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

    Science.gov (United States)

    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.

  6. Congenital heart disease in the newborn requiring early intervention

    Directory of Open Access Journals (Sweden)

    Sin Weon Yun

    2011-05-01

    Full Text Available Although antenatal diagnostic technique has considerably improved, precise detection and proper management of the neonate with congenital heart disease (CHD is always a great concern to pediatricians. Congenital cardiac malformations vary from benign to serious conditions such as complete transposition of the great arteries (TGA, critical pulmonary and aortic valvular stenosis/atresia, hypoplastic left heart syndrome (HLHS, obstructed total anomalous pulmonary venous return (TAPVR, which the baby needs immediate diagnosis and management for survival. Unfortunately, these life threatening heart diseases may not have obvious evidence early after birth, most of the clinical and physical findings are nonspecific and vague, which makes the diagnosis difficult. High index of suspicion and astute acumen are essential to decision making. When patent ductus arteriosus (PDA is opened widely, many serious malformations may not be noticed easily in the early life, but would progress as severe acidosis/shock/cyanosis or even death as PDA constricts after few hours to days. Ductus dependent congenital cardiac lesions can be divided into the ductus dependent systemic or pulmonary disease, but physiologically quite different from each other and treatment strategy has to be tailored to the clinical status and cardiac malformations. Inevitably early presentation is often regarded as a medical emergency. Differential diagnosis with inborn error metabolic disorders, neonatal sepsis, persistent pulmonary hypertension of the newborn (PPHN and other pulmonary conditions are necessary. Urgent identification of the newborn at such high risk requires timely referral to a pediatric cardiologist, and timely intervention is the key in reducing mortality and morbidity. This following review deals with the clinical presentations, investigative modalities and approach to management of congenital cardiac malformations presenting in the early life.

  7. Congenital cutaneous candidiasis: A rare and unpredictable disease

    Directory of Open Access Journals (Sweden)

    Sujit A Jagtap

    2011-01-01

    Full Text Available Congenital cutaneous candidiasis (CCC is an extremely rare disorder that presents within the first 6 days of life. The manifestations ranges from diffuse skin eruption without any systemic symptoms to respiratory distress, hepatosplenomegaly, sepsis, and death. We report a neonate who presented with generalized skin eruptions at birth, characterized by erythematous macules and papules. The eruption involved head, face, neck, trunk, and extremities. Candida albicans was demonstrated on direct KOH smear, skin biopsy. The disease implies a congenital intrauterine infection and is different from neonatal candidiasis, which manifests as thrush or diaper dermatitis. The infection is acquired from the maternal genital tract in an ascending fashion. Clinical features, direct smear examination of specimen, and appropriate cultures are useful in differentiating the lesions from other more common dermatoses of the neonatal period. Topical antifungal therapy is sufficient unless systemic candidiasis is present. Prognosis for congenital cutaneous candidiasis is good.

  8. Towards Chagas disease elimination: Neonatal screening for congenital transmission in rural communities.

    Science.gov (United States)

    Pennington, Pamela Marie; Juárez, José Guillermo; Arrivillaga, Margarita Rivera; De Urioste-Stone, Sandra María; Doktor, Katherine; Bryan, Joe P; Escobar, Clara Yaseli; Cordón-Rosales, Celia

    2017-09-01

    Chagas disease is a neglected tropical disease that continues to affect populations living in extreme poverty in Latin America. After successful vector control programs, congenital transmission remains as a challenge to disease elimination. We used the PRECEDE-PROCEED planning model to develop strategies for neonatal screening of congenital Chagas disease in rural communities of Guatemala. These communities have persistent high triatomine infestations and low access to healthcare. We used mixed methods with multiple stakeholders to identify and address maternal-infant health behaviors through semi-structured interviews, participatory group meetings, archival reviews and a cross-sectional survey in high risk communities. From December 2015 to April 2016, we jointly developed a strategy to illustratively advertise newborn screening at the Health Center. The strategy included socioculturally appropriate promotional and educational material, in collaboration with midwives, nurses and nongovernmental organizations. By March 2016, eight of 228 (3.9%) pregnant women had been diagnosed with T. cruzi at the Health Center. Up to this date, no neonatal screening had been performed. By August 2016, seven of eight newborns born to Chagas seropositive women had been parasitologically screened at the Health Center, according to international standards. Thus, we implemented a successful community-based neonatal screening strategy to promote congenital Chagas disease healthcare in a rural setting. The success of the health promotion strategies developed will depend on local access to maternal-infant services, integration with detection of other congenital diseases and reliance on community participation in problem and solution definition.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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

  12. Lessons learned from study of congenital hip disease in adults

    OpenAIRE

    Hartofilakidis, George; Lampropoulou-Adamidou, Kalliopi

    2016-01-01

    Orthopaedic surgeons specialising in adult hip reconstruction surgery often face the problem of osteoarthritis secondary to congenital hip disease (CHD). To achieve better communication among physicians, better treatment planning and evaluation of the results of various treatment options, an agreed terminology is needed to describe the entire pathology. Furthermore, a generally accepted classification of the deformities is necessary. Herein, the authors propose the use of the term ?congenital...

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

    Directory of Open Access Journals (Sweden)

    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.

  14. Prevention of congenital Chagas disease by Benznidazole treatment in reproductive-age women. An observational study.

    Science.gov (United States)

    Álvarez, María G; Vigliano, Carlos; Lococo, Bruno; Bertocchi, Graciela; Viotti, Rodolfo

    2017-10-01

    Since the decline in new cases of infection by insect/vector, congenital Chagas disease has become more relevant in the transmission of Chagas disease. Treatment with benznidazole significantly reduces the parasitemia, which constitutes an important factor linked to vertical transmission. The objective of this study was to evaluate whether treatment with benznidazole previously administered to women of childbearing age can prevent or reduce the incidence of new cases of congenital Chagas disease. An historical cohort study that included all women in reproductive age (15-45 years) assisted in our center was designed. We included 67 mothers with chronic Chagas disease; 35 women had not been treated prior to pregnancy, 15 had been treated prior to pregnancy and 17 gave birth prior and after treatment with benznidazole. Eight mothers gave birth to 16 children with congenital Chagas disease (8/67, 12%). The prevalence of congenital Chagas was 16/114 (14%) children born to untreated mothers and 0/42 (0%) children born to benznidazole- treated mothers, p=0.01. No significant differences were observed in clinical, serologic, epidemiological or socioeconomic baseline variables between mothers with and without children born with congenital Chagas. A 32% conversion rate to negative serology was observed in benznidazole-treated women after long-term follow up. Antiparasitic treatment administered to women in reproductive age can prevent the occurrence of congenital Chagas disease. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. Advances in cardiac magnetic resonance imaging of congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Driessen, Mieke M.P. [University of Utrecht, University Medical Center Utrecht, Department of Radiology, PO Box 85500, Utrecht (Netherlands); University of Utrecht, University Medical Center Utrecht, Department of Cardiology, PO Box 85500, Utrecht (Netherlands); The Interuniversity Cardiology Institute of the Netherlands (ICIN) - Netherlands Heart Institute, PO Box 19258, Utrecht (Netherlands); Breur, Johannes M.P.J. [Wilhelmina Children' s Hospital, University Medical Center Utrecht, Department of Pediatric Cardiology, PO Box 85500, Utrecht (Netherlands); Budde, Ricardo P.J.; Oorschot, Joep W.M. van; Leiner, Tim [University of Utrecht, University Medical Center Utrecht, Department of Radiology, PO Box 85500, Utrecht (Netherlands); Kimmenade, Roland R.J. van; Sieswerda, Gertjan Tj [University of Utrecht, University Medical Center Utrecht, Department of Cardiology, PO Box 85500, Utrecht (Netherlands); Meijboom, Folkert J. [University of Utrecht, University Medical Center Utrecht, Department of Cardiology, PO Box 85500, Utrecht (Netherlands); Wilhelmina Children' s Hospital, University Medical Center Utrecht, Department of Pediatric Cardiology, PO Box 85500, Utrecht (Netherlands)

    2015-01-01

    Due to advances in cardiac surgery, survival of patients with congenital heart disease has increased considerably during the past decades. Many of these patients require repeated cardiovascular magnetic resonance imaging to assess cardiac anatomy and function. In the past decade, technological advances have enabled faster and more robust cardiovascular magnetic resonance with improved image quality and spatial as well as temporal resolution. This review aims to provide an overview of advances in cardiovascular magnetic resonance hardware and acquisition techniques relevant to both pediatric and adult patients with congenital heart disease and discusses the techniques used to assess function, anatomy, flow and tissue characterization. (orig.)

  16. Cardiac surgery in patients with congenital heart disease is associated with acute kidney injury and the risk of chronic kidney disease.

    Science.gov (United States)

    Madsen, Nicolas L; Goldstein, Stuart L; Frøslev, Trine; Christiansen, Christian F; Olsen, Morten

    2017-09-01

    Cardiac surgery associated-acute kidney injury (CS-AKI) occurs in 30-50% of patients undergoing surgery for congenital heart disease. Here we determine if CS-AKI is associated with chronic kidney disease (CKD) in patients with congenital heart disease. Using Danish regional population-based registries, our cohort study included patients with congenital heart disease born between 1990-2010 with first cardiac surgery between 2005 and 2010 (under 15 years of age). Utilizing in- and out-patient laboratory serum creatinine data, we identified individuals fulfilling KDIGO stages of AKI within 5 days of cardiac surgery. A unique personal identifier enabled unambiguous data linkage and virtually complete follow-up. The cumulative incidences of CKD stages 2-5 according to presence of CS-AKI were computed utilizing serum creatinine values and Pottel's formula. Using Cox regression, the corresponding hazard ratios were computed, adjusting for sex, age at first cardiac surgery, calendar period of surgery, and congenital heart disease severity. Of 382 patients with congenital heart disease undergoing cardiac surgery, 127 experienced CS-AKI within 5 days of surgery. Median follow-up was 4.9 years. The five-year cumulative incidence of CKD for patients with CS-AKI was 12% (95% confidence interval 7%-20%), significantly higher than the 3% (1%-5%) for those without CS-AKI with a significant adjusted hazard ratio of 3.8 (1.4-10.4). Thus, CS-AKI in patients with congenital heart disease is common and is associated with an increased risk for CKD. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

  17. AUTOSOMAL RECESSIVE POLYCYSTIC KIDNEY DISEASE AND CONGENITAL HEPATIC FIBROSIS: SUMMARY STATEMENT OF A FIRST NATIONAL INSTITUTES OF HEALTH/OFFICE OF RARE DISEASES CONFERENCE

    Science.gov (United States)

    Gunay-Aygun, Meral; Avner, Ellis D.; Bacallo, Robert L.; Choyke, Peter L.; Flynn, Joseph T.; Germino, Gregory G.; Guay-Woodford, Lisa; Harris, Peter; Heller, Theo; Ingelfinger, Julie; Kaskel, Frederick; Kleta, Robert; LaRusso, Nicholas F.; Mohan, Parvathi; Pazour, Gregory J.; Shneider, Benjamin L.; Torres, Vicente E.; Wilson, Patricia; Zak, Colleen; Zhou, Jing; Gahl, William A.

    2010-01-01

    Researchers and clinicians with expertise in autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF) and related fields met on May 5-6, 2005, on the National Institutes of Health (NIH) campus for a 1.5-day symposium sponsored by the NIH Office of Rare Diseases, the National Human Genome Research Institute (NHGRI), and in part by the ARPKD/CHF Alliance. The meeting addressed the present status and the future of ARPKD/CHF research. PMID:16887426

  18. Knowledge and Oral Health Attitudes among Parents of Children with Congenital Heart Disease

    OpenAIRE

    Suvarna, Reshma; Rai, Kavita; Hegde, Amitha M

    2011-01-01

    ABSTRACT Congenital heart disease (CHD) is a devastating complex of diseases resulting from defects of development. It affects more than 1 of every 100 live births. Early preventive dental care should be adjusted to the special needs of these children in their first years of life. Knowledge of parental attitudes and experiences of dental care are therefore important. Aim : This study was done to assess the knowledge and attitudes among parents of children with congenital heart disease towards...

  19. Exercise and Congenital Heart Disease.

    Science.gov (United States)

    Wang, Junnan; Liu, Bin

    2017-01-01

    Exercise is an essential part of the physical and mental health. However, many doctors and patients have a conservative attitude to participate in exercise in patients with congenital heart disease (CHD). Exercise in patients with CHD is a relatively new and controversial field. Taking into account the involvement of exercise in patients with CHD is likely to induce acute cardiovascular events and even sudden death; many doctors have a conservative attitude to participate in exercise in patients with CHD, leading to the occurrence of excessive self-protection. CHD has been transformed from the original fatal diseases into chronic diseases, medical treatment will also transform from the improvement of the survival rate to the improvement of the quality of life. It is still a problem that whether patients with CHD should participate in exercise and which kind of CHD should take part in exercise to improve the quality of life.

  20. Underlying congenital heart disease in Nigerian children with ...

    African Journals Online (AJOL)

    Background: Pneumonia is a common cause of childhood morbidity and mortality globally. Some congenital heart disease(CHD) may predispose their sufferer to bronchopneumonia. Objective: To evaluate the contribution of CHD to pneumonia in children seen in a tertiary hospital. Methods: Over a year, consecutive ...

  1. Clinicoelectrophysiologic and magnetoresonance and tomographic investigation of hereditary and congenital diseases of the brain

    International Nuclear Information System (INIS)

    Kamalov, I.I.; Pikuza, O.I.; Idrisova, L.G.; Uryvskij, V.I.

    1996-01-01

    The combined investigation of hereditary and congenital diseases of the brain using magnetoresonance tomography is performed. The hereditary and congenital diseases of the brain accompanied by disorders of liquoroconductive tracts with medullary substance lesion are revealed. The investigation results provide timely development of the treatment tactics and rehabilitation of sick children. Refs. 3

  2. A systematic review of trends and patterns of congenital heart disease in children in Nigeria from 1964-2015.

    Science.gov (United States)

    Abdulkadir, Mohammed; Abdulkadir, Zainab

    2016-06-01

    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. To determine the patterns of congenital heart disease in children in Nigeria and examine trends in the occurrence of individual defects across 5 decades. We searched PubMed database, Google scholar, TRIP database, World Health Organisation libraries and reference lists of selected articles for studies on patterns of congenital heart disease among children in Nigeria between 1964 and 2015. Two researchers reviewed the papers independently and extracted the data. Seventeen studies were selected that included 2,953 children with congenital heart disease. The commonest congenital heart diseases in Nigeria are ventricular septal defect (40.6%), patent ductus arteriosus (18.4%), atrial septal defect (11.3%) and tetralogy of Fallot (11.8%). There has been a 6% increase in the burden of VSD in every decade for the 5 decades studied and a decline in the occurrence of pulmonary stenosis. Studies conducted in Northern Nigeria demonstrated higher proportions of atrial septal defects than patent ductus arteriosus. Ventricular septal defects are the commonest congenital heart diseases in Nigeria with a rising burden.

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

    Directory of Open Access Journals (Sweden)

    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. 

  4. Towards Chagas disease elimination: Neonatal screening for congenital transmission in rural communities.

    Directory of Open Access Journals (Sweden)

    Pamela Marie Pennington

    2017-09-01

    Full Text Available Chagas disease is a neglected tropical disease that continues to affect populations living in extreme poverty in Latin America. After successful vector control programs, congenital transmission remains as a challenge to disease elimination. We used the PRECEDE-PROCEED planning model to develop strategies for neonatal screening of congenital Chagas disease in rural communities of Guatemala. These communities have persistent high triatomine infestations and low access to healthcare. We used mixed methods with multiple stakeholders to identify and address maternal-infant health behaviors through semi-structured interviews, participatory group meetings, archival reviews and a cross-sectional survey in high risk communities. From December 2015 to April 2016, we jointly developed a strategy to illustratively advertise newborn screening at the Health Center. The strategy included socioculturally appropriate promotional and educational material, in collaboration with midwives, nurses and nongovernmental organizations. By March 2016, eight of 228 (3.9% pregnant women had been diagnosed with T. cruzi at the Health Center. Up to this date, no neonatal screening had been performed. By August 2016, seven of eight newborns born to Chagas seropositive women had been parasitologically screened at the Health Center, according to international standards. Thus, we implemented a successful community-based neonatal screening strategy to promote congenital Chagas disease healthcare in a rural setting. The success of the health promotion strategies developed will depend on local access to maternal-infant services, integration with detection of other congenital diseases and reliance on community participation in problem and solution definition.

  5. Assessing the influence of consanguinity on congenital heart disease

    Directory of Open Access Journals (Sweden)

    Alan H Bittles

    2011-01-01

    Full Text Available Numerous articles have been published linking consanguineous marriage to an elevated prevalence of congenital heart disease, with ventricular septal defects and atrial septal defects the most commonly cited disorders. While initially persuasive, on closer examination many of these studies have fundamental shortcomings in their design and in the recruitment of study subjects and controls. Improved matching of cases and controls, to include recognition of the long-established community boundaries within which most marriages are contracted, and the assessment of consanguinity within specific levels and types of marital union would improve and help to focus the study outcomes. At the same time, major discrepancies between studies in their reported prevalence and types of congenital heart disease suggest an urgent need for greater standardization in the classification and reporting of these disorders.

  6. Computer-assisted instruction; MR imaging of congenital heart disease

    International Nuclear Information System (INIS)

    Choi, Young Hi; Yu, Pil Mun; Lee, Sang Hoon; Choe, Yeon Hyeon; Kim, Yang Min

    1996-01-01

    To develop a software program for computer-assisted instruction on MR imaging of congenital heart disease for medical students and residents to achieve repetitive and effective self-learning. We used a film scanner(Scan Maker 35t) and IBM-PC(486 DX-2, 60 MHz) for acquisition and storage of image data. The accessories attached to the main processor were CD-ROM drive(Sony), sound card(Soundblaster-Pro), and speaker. We used software of Adobe Photoshop(v 3.0) and paint shop-pro(v 3.0) for preprocessing image data, and paintbrush from microsoft windows 3.1 for labelling. The language used for programming was visual basic(v 3.0) from microsoft corporation. We developed a software program for computer-assisted instruction on MR imaging of congenital heart disease as an effective educational tool

  7. Assessing the influence of consanguinity on congenital heart disease

    International Nuclear Information System (INIS)

    Bittles, Alan H.

    2011-01-01

    Numerous articles have been published linking consanguineous marriage to an elevated prevalence of congenital heart disease, with ventricular septal defects and atrial septal defects the most commonly cited disorders. While initially persuasive, on closer examination many of these studies have fundamental shortcomings in their design and in the recruitment of study subjects and controls. Improved matching of cases and controls, to include recognition of the long-established community boundaries within which most marriages are contracted, and the assessment of consanguinity within specific levels and types of marital union would improve and help to focus the study outcomes. At the same time, major discrepancies between studies in their reported prevalence and types of congenital heart disease suggest an urgent need for greater standardization in the classification and reporting of these disorders

  8. 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.

  9. Underlying congenital heart disease in Nigerian children with ...

    African Journals Online (AJOL)

    EB

    2013-09-03

    Sep 3, 2013 ... Abstract. Background: Pneumonia is a common cause of childhood morbidity and mortality globally. Some congenital heart disease. (CHD) may predispose their sufferer to bronchopneumonia. Objective: To evaluate the contribution of CHD to pneumonia in children seen in a tertiary hospital. Methods: Over ...

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

    Directory of Open Access Journals (Sweden)

    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.

  11. Aortic valve prosthesis-patient mismatch and exercise capacity in adult patients with congenital heart disease

    NARCIS (Netherlands)

    van Slooten, Ymkje J.; Melle, van Joost P.; Freling, Hendrik G.; Bouma, Berto J.; van Dijk, Arie P. J.; Jongbloed, Monique R. M.; Post, Martijn C.; Sieswerda, Gertjan T.; in 't Veld, Anna Huis; Ebels, Tjark; Voors, Adriaan A.; Pieper, Petronella G.

    Objectives To report the prevalence of aortic valve prosthesis patient mismatch (PPM) in an adult population with congenital heart disease (CHD) and its impact on exercise capacity. Adults with congenital heart disease (ACHD) with a history of aortic valve replacement may outgrow their prosthesis

  12. Aortic valve prosthesis-patient mismatch and exercise capacity in adult patients with congenital heart disease

    NARCIS (Netherlands)

    van Slooten, Ymkje J.; van Melle, Joost P.; Freling, Hendrik G.; Bouma, Berto J.; van Dijk, Arie Pj; Jongbloed, Monique Rm; Post, Martijn C.; Sieswerda, Gertjan T.; Huis In 't Veld, Anna; Ebels, Tjark; Voors, Adriaan A.; Pieper, Petronella G.

    2016-01-01

    To report the prevalence of aortic valve prosthesis-patient mismatch (PPM) in an adult population with congenital heart disease (CHD) and its impact on exercise capacity. Adults with congenital heart disease (ACHD) with a history of aortic valve replacement may outgrow their prosthesis later in

  13. Long-Term Nationwide Follow-Up Study of Simple Congenital Heart Disease Diagnosed in Otherwise Healthy Children

    DEFF Research Database (Denmark)

    Videbæk, Jørgen; Laursen, Henning Bækgaard; Olsen, Morten

    2016-01-01

    BACKGROUND: Systematic follow-up is currently not recommended for patients with simple congenital heart disease; however, only a few data exist on the long-term prognosis of simple congenital heart disease. METHODS AND RESULTS: We undertook a nationwide follow-up study of a cohort of 1241 simple...... congenital heart disease patients, diagnosed from 1963 through 1973, in otherwise healthy children and alive at 15 years of age. We identified 10 age- and sex-matched general population controls per patient. We followed the study population through Danish public registries from the age of 15 years up...... with simple congenital heart disease in the 1960s have substantially increased long-term mortality and cardiac morbidity compared with the general population. Further studies on the effectiveness of systematic medical follow-up programs appear warranted....

  14. 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.

  15. Rare association of anophthalmia, complex congenital heart disease and pulmonary hypertension: case report.

    Science.gov (United States)

    Ríos-Méndez, Raúl Enrique; Lozano Chinga, Michell Marola

    2016-10-07

    Clinical congenital anophthalmia is described as the uni- or bilateral absence of the eyeball that might occur in isolation or as part of a syndrome. It has a very low prevalence and its etiology is heterogeneous. Complex congenital cardiac malformations are also rare. The association of congenital anophthalmia and congenital heart disease is rarer still, and the etiology of those associations is not well understood yet. We report the case of a patient who had the very rare association of bilateral anophthalmia, multiple cardiac malformations and severe pulmonary hypertension.

  16. Accuracy of the Masimo SET® LNCS neo peripheral pulse oximeter in cyanotic congenital heart disease.

    Science.gov (United States)

    Griksaitis, Michael J; Scrimgeour, Gemma E; Pappachan, John V; Baldock, Andrew J

    2016-08-01

    Introduction Non-invasive peripheral pulse oximeters are routinely used to measure oxyhaemoglobin saturation (SpO2) in cyanotic congenital heart disease. These probes are calibrated in healthy adult volunteers between arterial saturations of ~75 and 100%, using the gold standard of co-oximetry on arterial blood samples. There are little data to attest their accuracy in cyanotic congenital heart disease. Aims We aimed to assess the accuracy of a commonly used probe in children with cyanotic congenital heart disease. Children with cyanotic congenital heart disease admitted to the Paediatric Intensive Care Unit with an arterial line in situ were included to our study. Prospective simultaneous recordings of SpO2, measured by the Masimo SET® LNCS Neo peripheral probe, and co-oximeter saturations (SaO2) measured by arterial blood gas analysis were recorded. A total of 527 paired measurements of SpO2 and SaO2 (using an ABL800 FLEX analyser) in 25 children were obtained. The mean bias of the pulse oximeter for all SaO2 readings was +4.7±13.8%. The wide standard deviation indicates poor precision. This mean bias increased to +7.0±13.7% at SaO2 recordings congenital heart disease. This may have serious implications for clinical decisions.

  17. Congenital diseases of the thoracic aorta. Role of MRI and MRA

    International Nuclear Information System (INIS)

    Russo, Vincenzo; Renzulli, Matteo; Palombara, Cesare la; Fattori, Rossella

    2006-01-01

    Aortic malformations may be associated with other congenital heart abnormalities or may present independently, as incidental findings in asymptomatic patients. For more than 30 years, conventional imaging techniques for detection and assessment of congenital anomalies of the aorta have been chest X-ray, echocardiography and angiography. In recent times, considerable interest in congenital aortic diseases has been shown, due to technical progresses of noninvasive imaging modalities. Among them, magnetic resonance imaging (MRI) almost certainly offers the greatest advantages, especially in young patients in which a radiation exposure must be avoided as much as possible. MRI provides an excellent visualization of vascular structures with a wide field of view, well suited for evaluation of the thoracic aorta malformations. With the implementation of magnetic resonance angiography (MRA) it is also possible to depict any relationship with supra-aortic or mediastinal vessels. Phase contrast technique allows identification of the hemodynamic significance of the aortic alteration. Some technical considerations, which include fast spin-echo, gradient-echo and, especially, MRA techniques with phase-contrast and contrast enhanced methods, are discussed and applied in the evaluation of congenital thoracic aorta diseases. (orig.)

  18. 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

  19. 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.

  20. Coats' disease and congenital retinoschisis in a single eye: a case report and DNA analysis.

    Science.gov (United States)

    Berinstein, D M; Hiraoka, M; Trese, M T; Shastry, B S

    2001-01-01

    The clinical features of Coats' disease and congenital retinoschisis (RS) are distinctly different. Therefore, finding changes consistent with Coats' disease and congenital RS in a single eye is an unusual occurrence. The following report describes two cases with a Coats' telangiectatic lesion in one region of the retina separated by normal retina and the presence of central and peripheral congenital RS. Molecular genetic analysis of the Norrie disease and RS genes failed to identify disease-causing or polymorphic mutations in either of the genes, suggesting that the above condition is clinically and genetically a different disorder. Further studies are needed to identify the genes responsible for the above disorder and associated ocular manifestations. Copyright 2001 S. Karger AG, Basel.

  1. Turning 18 with congenital heart disease: prediction of infective endocarditis based on a large population

    NARCIS (Netherlands)

    Verheugt, Carianne L.; Uiterwaal, Cuno S. P. M.; van der Velde, Enno T.; Meijboom, Folkert J.; Pieper, Petronella G.; Veen, Gerrit; Stappers, Jan L. M.; Grobbee, Diederick E.; Mulder, Barbara J. M.

    2011-01-01

    The risk of infective endocarditis (IE) in adults with congenital heart disease is known to be increased, yet empirical risk estimates are lacking. We sought to predict the occurrence of IE in patients with congenital heart disease at the transition from childhood into adulthood. We identified

  2. A positive perspective of knowledge, attitude, and practices for health-promoting behaviors of adolescents with congenital heart disease.

    Science.gov (United States)

    Huang, Hui-Ru; Chen, Chi-Wen; Chen, Chin-Mi; Yang, Hsiao-Ling; Su, Wen-Jen; Wang, Jou-Kou; Tsai, Pei-Kwei

    2018-03-01

    Health-promoting behaviors could serve as a major strategy to optimize long-term outcomes for adolescents with congenital heart disease. The associations assessed from a positive perspective of knowledge, attitudes, and practice model would potentially cultivate health-promoting behaviors during adolescence. The purpose of this study was to examine the relationships between disease knowledge, resilience, family functioning, and health-promoting behaviors in adolescents with congenital heart disease. A total of 320 adolescents with congenital heart disease who were aged 12-18 years were recruited from pediatric cardiology outpatient departments, and participated in a cross-sectional survey. The participants completed the Leuven Knowledge Questionnaire for Congenital Heart Disease; Haase Adolescent Resilience in Illness Scale; Family Adaptability, Partnership, Growth, Affection, and Resolve; and Adolescent Health Promotion scales. The collected data were analyzed using descriptive statistics and three multiple regression models. Greater knowledge of prevention of complications and higher resilience had a more powerful effect in enhancing health-promoting behaviors. Having symptoms and moderate or severe family dysfunction were significantly more negatively predictive of health-promoting behaviors than not having symptoms and positive family function. The third model explained 40% of the variance in engaging in health-promoting behaviors among adolescents with congenital heart disease. The findings of this study provide new insights into the role of disease knowledge, resilience, and family functioning in the health-promoting behavior of adolescents with congenital heart disease. Continued efforts are required to plan family care programs that promote the acquisition of sufficient disease knowledge and the development of resilience for adolescents with congenital heart disease.

  3. Spectrum of congenital heart diseases in children with Down ...

    African Journals Online (AJOL)

    CHD) frequently occur in children with Down syndrome. ... at the Pediatric cardiology clinic and had echocardiography diagnosis of congenital heart diseases. ... Browse By Country · List All Titles · Free To Read Titles This Journal is Open Access.

  4. Increasing Prevalence of Atrial Fibrillation and Permanent Atrial Arrhythmias in Congenital Heart Disease.

    Science.gov (United States)

    Labombarda, Fabien; Hamilton, Robert; Shohoudi, Azadeh; Aboulhosn, Jamil; Broberg, Craig S; Chaix, Marie A; Cohen, Scott; Cook, Stephen; Dore, Annie; Fernandes, Susan M; Fournier, Anne; Kay, Joseph; Macle, Laurent; Mondésert, Blandine; Mongeon, François-Pierre; Opotowsky, Alexander R; Proietti, Anna; Rivard, Lena; Ting, Jennifer; Thibault, Bernard; Zaidi, Ali; Khairy, Paul

    2017-08-15

    Atrial arrhythmias are the most common complication encountered in the growing and aging population with congenital heart disease. This study sought to assess the types and patterns of atrial arrhythmias, associated factors, and age-related trends. A multicenter cohort study enrolled 482 patients with congenital heart disease and atrial arrhythmias, age 32.0 ± 18.0 years, 45.2% female, from 12 North American centers. Qualifying arrhythmias were classified by a blinded adjudicating committee. The most common presenting arrhythmia was intra-atrial re-entrant tachycardia (IART) (61.6%), followed by atrial fibrillation (28.8%), and focal atrial tachycardia (9.5%). The proportion of arrhythmias due to IART increased with congenital heart disease complexity from 47.2% to 62.1% to 67.0% in patients with simple, moderate, and complex defects, respectively (p = 0.0013). Atrial fibrillation increased with age to surpass IART as the most common arrhythmia in those ≥50 years of age (51.2% vs. 44.2%; p congenital heart disease, with a predominantly paroxysmal pattern. However, atrial fibrillation increases in prevalence and atrial arrhythmias progressively become permanent as the population ages. Copyright © 2017 American College of Cardiology Foundation. Published by Elsevier Inc. All rights reserved.

  5. 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.

  6. Cardiac Hemodynamics in the Pathogenesis of Congenital Heart Disease and Aortic Valve Calcification

    Science.gov (United States)

    Nigam, Vishal

    2011-11-01

    An improved understanding of the roles of hemodynamic forces play in cardiac development and the pathogenesis of cardiac disease will have significant scientific and clinical impact. I will focus on the role of fluid dynamics in congenital heart disease and aortic valve calcification. Congenital heart defects are the most common form of birth defect. Aortic valve calcification/stenosis is the third leading cause of adult heart disease and the most common form of acquired valvular disease in developed countries. Given the high incidence of these diseases and their associated morbidity and mortality, the potential translational impact of an improved understanding of cardiac hemodynamic forces is very large. Division of Pediatric Cardiology, Rady Children's Hospital, San Diego

  7. Cerebrovascular accidents in adult patients with congenital heart disease

    NARCIS (Netherlands)

    Hoffmann, A.; Chockalingam, P.; Balint, O.H.; Dadashev, A.; Dimopoulos, K.; Engel, R.; Schmid, M.; Schwerzmann, M.; Gatzoulis, M.A.; Mulder, B.J.M.; Oechslin, E.

    2010-01-01

    Objective To investigate the prevalence and characteristics of cerebrovascular accidents (CVA) in a large population of adults with congenital heart disease (CHD). Methods and results In a retrospective analysis of aggregated European and Canadian databases a total population of 23 153 patients with

  8. 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.

    Science.gov (United States)

    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.

  9. Evaluation of athletes with complex congenital heart disease.

    Science.gov (United States)

    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.

  10. Congenital and Acquired Valvular Heart Disease in Pregnancy.

    Science.gov (United States)

    Goldstein, Sarah A; Ward, Cary C

    2017-08-24

    The number of pregnancies complicated by valvular heart disease is increasing. This review describes the hemodynamic effects of clinically important valvular abnormalities during pregnancy and reviews current guideline-driven management strategies. Valvular heart disease in women of childbearing age is most commonly caused by congenital abnormalities and rheumatic heart disease. Regurgitant lesions are well tolerated, while stenotic lesions are associated with a higher risk of pregnancy-related complications. Management of symptomatic disease during pregnancy is primarily medical, with percutaneous interventions considered for refractory symptoms. Most guidelines addressing the management of valvular heart disease during pregnancy are based on case reports and observational studies. Additional investigation is required to further advance the care of this growing patient population.

  11. Prevalence of non-cardiovascular findings on CT angiography in children with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Malik, Archana [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); St. Christopher' s Hospital for Children, Department of Radiology, Philadelphia, PA (United States); Hellinger, Jeffrey C. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); New York Cardiovascular Institute at Lenox Hill Radiology, New York, NY (United States); Servaes, Sabah; Keller, Marc S. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Schwartz, Mathew C. [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Levine Children' s Hospital, Sanger Heart and Vascular Institute, Charlotte, NC (United States); Epelman, Monica [The Children' s Hospital of Philadelphia, Department of Radiology, Philadelphia, PA (United States); Nemours Children' s Health System/Nemours Children' s Hospital, Department of Medical Imaging/Radiology, Orlando, FL (United States)

    2017-03-15

    CT angiography is gaining broader acceptance in the evaluation of children with known or suspected congenital heart disease. These studies include non-cardiovascular structures such as the mediastinum, lung parenchyma and upper abdominal organs. It is important to inspect all these structures for potential abnormalities that might be clinically important and, in some cases, may impact care plans. To determine the prevalence of non-cardiovascular findings in CT angiography of children with congenital heart disease. During 28 months, 300 consecutive children (170 males; mean age: 7.1 years, age range: 6 h-26 years), referred from a tertiary pediatric cardiology center, underwent clinically indicated CT angiography to evaluate known or suspected congenital heart disease. Slightly more than half (n = 169) of the patients were postoperative or post-intervention. Examinations were retrospectively reviewed, and non-cardiovascular findings were recorded and tabulated by organ system, congenital heart disease and operative procedure in conjunction with outcomes from medical charts. Non-cardiovascular findings were identified in 83% (n = 250 / 300) of the studies for a total of 857 findings. In 221 patients (n = 73.7% of 300) a total of 813 non-cardiovascular findings were clinically significant, while in 9.7% (n = 29 / 300) of patients, 5.1% (n = 44 / 857) of the findings were nonsignificant. In 38.3% (n = 115 / 300) of patients with significant non-cardiovascular pathology, the findings were unexpected and directly impacted patient care plans. Commonly involved organs with non-cardiovascular findings were the lungs with 280 non-cardiovascular findings in 176 / 300 (58.7%) of patients, the airway with 139 non-cardiovascular findings in 103 / 300 (34.3%) of patients and the liver with 108 non-cardiovascular findings in 72 / 300 (24.0%) of patients. Syndromic associations were noted in 22% (n = 66 / 300) of the patients. Non-cardiovascular findings are common in children with

  12. Prevalence of non-cardiovascular findings on CT angiography in children with congenital heart disease

    International Nuclear Information System (INIS)

    Malik, Archana; Hellinger, Jeffrey C.; Servaes, Sabah; Keller, Marc S.; Schwartz, Mathew C.; Epelman, Monica

    2017-01-01

    CT angiography is gaining broader acceptance in the evaluation of children with known or suspected congenital heart disease. These studies include non-cardiovascular structures such as the mediastinum, lung parenchyma and upper abdominal organs. It is important to inspect all these structures for potential abnormalities that might be clinically important and, in some cases, may impact care plans. To determine the prevalence of non-cardiovascular findings in CT angiography of children with congenital heart disease. During 28 months, 300 consecutive children (170 males; mean age: 7.1 years, age range: 6 h-26 years), referred from a tertiary pediatric cardiology center, underwent clinically indicated CT angiography to evaluate known or suspected congenital heart disease. Slightly more than half (n = 169) of the patients were postoperative or post-intervention. Examinations were retrospectively reviewed, and non-cardiovascular findings were recorded and tabulated by organ system, congenital heart disease and operative procedure in conjunction with outcomes from medical charts. Non-cardiovascular findings were identified in 83% (n = 250 / 300) of the studies for a total of 857 findings. In 221 patients (n = 73.7% of 300) a total of 813 non-cardiovascular findings were clinically significant, while in 9.7% (n = 29 / 300) of patients, 5.1% (n = 44 / 857) of the findings were nonsignificant. In 38.3% (n = 115 / 300) of patients with significant non-cardiovascular pathology, the findings were unexpected and directly impacted patient care plans. Commonly involved organs with non-cardiovascular findings were the lungs with 280 non-cardiovascular findings in 176 / 300 (58.7%) of patients, the airway with 139 non-cardiovascular findings in 103 / 300 (34.3%) of patients and the liver with 108 non-cardiovascular findings in 72 / 300 (24.0%) of patients. Syndromic associations were noted in 22% (n = 66 / 300) of the patients. Non-cardiovascular findings are common in children with

  13. Different alpha crystallin expression in human age-related and congenital cataract lens epithelium.

    Science.gov (United States)

    Yang, Jing; Zhou, Sheng; Guo, Minfei; Li, Yuting; Gu, Jianjun

    2016-05-28

    The purpose of this study was to investigate the different expressions of αA-crystallin and αB-crystallin in human lens epithelium of age-related and congenital cataracts. The central part of the human anterior lens capsule approximately 5 mm in diameter together with the adhering epithelial cells, were harvested and processed within 6 hours after cataract surgery from age-related and congenital cataract patients or from normal eyes of fresh cadavers. The mRNA and soluble protein levels of αA-crystallin and αB-crystallin in the human lens epithelium were detected by real-time PCR and western blots, respectively. The mRNA and soluble protein expressions of αA-crystallin and αB-crystallin in the lens epithelium were both reduced in age-related and congenital cataract groups when compared with the normal control group. However, the degree of α-crystallin loss in the lens epithelium was highly correlated with different cataract types. The α-crystallin expression of the lens epithelium was greatly reduced in the congenital cataract group but only moderately decreased in the age-related cataract group. The reduction of αA-crystallin soluble protein levels in the congenital cataract group was approximately 2.4 fold decrease compared with that of the age-related cataract group, while an mRNA fold change of 1.67 decrease was observed for the age-related cataract group. Similarly, the reduction of soluble protein levels of αB-crystallin in the congenital cataract group was approximately a 1.57 fold change compared with that of the age-related cataract group. A 1.75 fold change for mRNA levels compared with that of the age-related cataract group was observed. The results suggest that the differential loss of α-crystallin in the human lens epithelium could be associated with the different mechanisms of cataractogenesis in age-related versus congenital cataracts, subsequently resulting in different clinical presentations.

  14. Validation of the grown-ups with congenital heart disease score.

    Science.gov (United States)

    Hörer, Jürgen; Roussin, Régine; LeBret, Emanuel; Ly, Mohamed; Abdullah, Jarrah; Marzullo, Rafaella; Pabst von Ohain, Jelena; Belli, Emre

    2018-06-01

    Adults with congenital heart disease in need of heart surgery frequently present with significant comorbidity. Furthermore, additional technical difficulties often related to redo operations increase the risk for postoperative mortality and morbidity. Hence, next to the type of the procedure, additional procedure-dependent and procedure-independent factors have to be considered for risk evaluation. The recently proposed grown-ups with congenital heart disease (GUCH) mortality and morbidity scores account for these additional risk factors. We sought to validate their predictive power in a large population operated in a single centre. Data of all consecutive patients aged 18 years or more, who underwent surgery for congenital heart disease between 2005 and 2016, were collected. Mortality was defined as hospital mortality or mortality within 30 days following surgery. Morbidity was defined as occurrence of one or more of the following complications: renal failure requiring dialysis, neurologic deficit persisting at discharge, atrioventricular block requiring permanent pacemaker implantation, mechanical circulatory support, phrenic nerve injury and unplanned reoperation. The discriminatory power of the GUCH scores was assessed using the area under the receiver operating characteristics curve (c-index, including 95% CI). Eight hundred and twenty-four operations were evaluated. Additional procedure-dependent and procedure-independent factors, as defined in the GUCH scores, were present in 165 patients (20.0%) and 544 patients (66.0%), respectively. Hospital mortality and morbidity was 3.4% and 10.0%, respectively. C-index for GUCH mortality score was 0.809 (0.742-0.877). C-index for GUCH morbidity score was 0.676 (0.619-0.734). We could confirm the good predictive power of the GUCH mortality score for postoperative mortality in a large population of adults with congenital heart disease. © Article author(s) (or their employer(s) unless otherwise stated in the text of the

  15. Cerebrovascular accidents in adult patients with congenital heart disease

    NARCIS (Netherlands)

    Hoffmann, A.; Chockalingam, P.; Balint, O. H.; Dadashev, A.; Dimopoulos, K.; Engel, R.; Schmid, M.; Schwerzmann, M.; Gatzoulis, M. A.; Mulder, B.; Oechslin, E.

    2010-01-01

    To investigate the prevalence and characteristics of cerebrovascular accidents (CVA) in a large population of adults with congenital heart disease (CHD). In a retrospective analysis of aggregated European and Canadian databases a total population of 23 153 patients with CHD was followed up to the

  16. Knowledge and Oral Health Attitudes among Parents of Children with Congenital Heart Disease.

    Science.gov (United States)

    Suvarna, Reshma; Rai, Kavita; Hegde, Amitha M

    2011-01-01

    Congenital heart disease (CHD) is a devastating complex of diseases resulting from defects of development. It affects more than 1 of every 100 live births. Early preventive dental care should be adjusted to the special needs of these children in their first years of life. Knowledge of parental attitudes and experiences of dental care are therefore important. Aim : This study was done to assess the knowledge and attitudes among parents of children with congenital heart disease towards oral health and dental care. Materials and methods : Parents (n = 105) of children with congenital heart disease of an age ranging from 0 to 16 years were included in the study. A questionnaire was used to assess the knowledge and oral health attitudes. Results : The parents' knowledge was fair but the oral health attitudes were not very satisfactory. The parents in this study also recognized the importance of oral health for the well-being of rest of the body. Conclusion : The results of this study indicate that parents' and children's attitudes toward oral health and dental care need to be improved.

  17. Exercise prescription in adults with congenital heart disease: a long way to go

    OpenAIRE

    Swan, L; Hillis, W

    2000-01-01

    OBJECTIVE—To determine if appropriate advice had been given to adults with congenital heart disease regarding safe and effective exercise, and to assess pre-existing misconceptions of the potential benefits and dangers of exercise.
DESIGN—An anonymous self assessment questionnaire.
SETTING—A tertiary referral clinic.
PATIENTS—99 adults (57 men, 42 women) with congenital heart disease, mean age 25.6 years.
MAIN OUTCOME MEASURES—The extent and nature of exercise advice given over previous years...

  18. 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

  19. 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

  20. Unanticipated hospital admission in pediatric patients with congenital heart disease undergoing ambulatory noncardiac surgical procedures.

    Science.gov (United States)

    Yuki, Koichi; Koutsogiannaki, Sophia; Lee, Sandra; DiNardo, James A

    2018-05-18

    An increasing number of surgical and nonsurgical procedures are being performed on an ambulatory basis in children. Analysis of a large group of pediatric patients with congenital heart disease undergoing ambulatory procedures has not been undertaken. The objective of this study was to characterize the profile of children with congenital heart disease who underwent noncardiac procedures on an ambulatory basis at our institution, to determine the incidence of adverse cardiovascular and respiratory adverse events, and to determine the risk factors for unscheduled hospital admission. This is a retrospective study of children with congenital heart disease who underwent noncardiac procedures on an ambulatory basis in a single center. Using the electronic preoperative anesthesia evaluation form, we identified 3010 patients with congenital heart disease who underwent noncardiac procedures of which 1028 (34.1%) were scheduled to occur on an ambulatory basis. Demographic, echocardiographic and functional status data, cardiovascular and respiratory adverse events, and reasons for postprocedure admission were recorded. Univariable analysis was conducted. The unplanned hospital admission was 2.7% and univariable analysis demonstrated that performance of an echocardiogram within 6 mo of the procedure and procedures performed in radiology were associated with postoperative admission. Cardiovascular adverse event incidence was 3.9%. Respiratory adverse event incidence was 1.8%. Ambulatory, noncomplex procedures can be performed in pediatric patients with congenital heart disease and good functional status with a relatively low unanticipated hospital admission rate. © 2018 John Wiley & Sons Ltd.

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

    OpenAIRE

    Uttam Kumar Sarkar; Anish Chatterjee; Suprit Basu; Atanu Pan; Sumit Periwal

    2017-01-01

    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 s...

  2. Morphological evaluation of complex congenital heart disease by magnetic resonance imaging

    International Nuclear Information System (INIS)

    Takahashi, Osahiro

    1993-01-01

    Ninety infants and children with complex congenital heart disease were examined with magnetic resonance imaging and the accuracy of morphological diagnoses by MRI was tested by comparison to the final diagnoses primarily based on angiocardiography. The sensitivity and specificity of MRI diagnoses were generally excellent in evaluating vena caval and atrial morphology, type of AV connection, ventricular morphology, type of VA connection and great vessel morphology. Although some difficulty with evaluating the detailed anatomy of the AV valve and its suspension system and fine vascular structures, MRI could demonstrate the entire cardiac structures clearly and provide the 3-dimensional information regarding the intracardiac structures, and it was extremely valuable in morphological assessment of complex congenital heart disease. (author)

  3. [Rare diseases and their patient organization: the Hungarian Federation of People with Rare and Congenital Diseases].

    Science.gov (United States)

    Pogány, Gábor

    2014-03-02

    The aim of the author is to discuss special issues of rare diseases, with emphasis on circumstances present in Hungary, including those leading to the foundation of the non-governmental organization, the Hungarian Federation of People with Rare and Congenital Diseases. The author briefly reviews the most important findings of current international surveys which have been performed with or without the involvement of member associations of the Hungarian Federation of People with Rare and Congenital Diseases. At the level of medical and social services in Hungary, it is still "incidental" to get to the appropriate expert or centre providing the diagnosis or treatment. It is difficult to find the still very few existing services due to the lack of suitable "pathways" and referrals. There are long delays in obtaining the first appointment, resulting in vulnerability and inequality along the regions. The overall consequence is the insufficiency or lack of access to medical and social services. There are also difficulties related to the supply of orphan medication and the long duration of hospitalization. At the level of patient organizations financial scarcity and uncertainty are typical, combined with inappropriate infrastructural background and human resources. The poor quality of organization of patient bodies along with insufficient cooperation among them are characteristic as well. The author concludes that a National Plan or Strategy is needed to improve the current fragmentation of services which would enable patients and health, social and educational professionals to provide and use the best care in the practice. This would ensure all patients with rare diseases to be diagnosed within a possible shortest time allowing access to the care and support needed in time resulting in a decrease in burden of families and society.

  4. Cell therapy of congenital corneal diseases with umbilical mesenchymal stem cells: lumican null mice.

    Directory of Open Access Journals (Sweden)

    Hongshan Liu

    Full Text Available BACKGROUND: Keratoplasty is the most effective treatment for corneal blindness, but suboptimal medical conditions and lack of qualified medical personnel and donated cornea often prevent the performance of corneal transplantation in developing countries. Our study aims to develop alternative treatment regimens for congenital corneal diseases of genetic mutation. METHODOLOGY/PRINCIPAL FINDINGS: Human mesenchymal stem cells isolated from neonatal umbilical cords were transplanted to treat thin and cloudy corneas of lumican null mice. Transplantation of umbilical mesenchymal stem cells significantly improved corneal transparency and increased stromal thickness of lumican null mice, but human umbilical hematopoietic stem cells failed to do the same. Further studies revealed that collagen lamellae were re-organized in corneal stroma of lumican null mice after mesenchymal stem cell transplantation. Transplanted umbilical mesenchymal stem cells survived in the mouse corneal stroma for more than 3 months with little or no graft rejection. In addition, these cells assumed a keratocyte phenotype, e.g., dendritic morphology, quiescence, expression of keratocyte unique keratan sulfated keratocan and lumican, and CD34. Moreover, umbilical mesenchymal stem cell transplantation improved host keratocyte functions, which was verified by enhanced expression of keratocan and aldehyde dehydrogenase class 3A1 in lumican null mice. CONCLUSIONS/SIGNIFICANCE: Umbilical mesenchymal stem cell transplantation is a promising treatment for congenital corneal diseases involving keratocyte dysfunction. Unlike donated corneas, umbilical mesenchymal stem cells are easily isolated, expanded, stored, and can be quickly recovered from liquid nitrogen when a patient is in urgent need.

  5. Congenital tricuspid valve disease and testicular agenesis: a case ...

    African Journals Online (AJOL)

    This is a report of a case of congenital tricuspid valve disease presenting with heart failure and pulmonary hypertension. Cardinal clinical features include breathlessness, easy fatigability since childhood, stunted growth, cyanosis, finger clubbing, a pansystolic murmur loudest at the left sternal edge in the fourth intercostal ...

  6. Associated morbidities to congenital diaphragmatic hernia and a relationship to human milk.

    Science.gov (United States)

    Froh, Elizabeth B; Spatz, Diane L

    2012-08-01

    The majority of what is known in the recent literature regarding human milk studies in the neonatal intensive care setting is specific to term and/or preterm infants (including very-low-birth-weight preterm infants). However, there is a lack of human milk and breastfeeding literature concerning infants with congenital anomalies, specifically infants diagnosed with congenital diaphragmatic hernia (CDH). By applying human milk research conducted among other populations of infants, this article highlights how human milk may have a significant impact on infants with CDH. Recent human milk studies are reviewed and then applied to the CDH population in regard to respiratory and gastrointestinal morbidities, as well as infection and length of stay. In addition, clinical implications of these relationships are discussed and suggestions for future research are presented.

  7. Hereditary syndromes associated with the congenital heart diseases in Azerbaijan

    Directory of Open Access Journals (Sweden)

    N. A. Gadzhieva

    2018-01-01

    Full Text Available This article is devoted to the study of the incidence and structure of the genetic syndromes associated with congenital heart diseases in Azerbaijan. The results of observation of 430 children with congenital heart diseases, which have been stayed in the Child Department of Scientific Surgery Center named after Academician M.A. Topchubashov during 2010-2015 period, have been analyzed. It was demonstrated that the incidence of the chromosomal and monogenic pathological conditions is 6.5±1.2% (28 children among the above population. The chromosomal syndromes were diagnosed in 20 (4.7±1.0% children, monogenic ones – in 8 (1.9+0.7% children. The chromosomal pathological condition was mostly presented with the Down’s syndrome (in 12 patents. As to the monogenic syndromes, it was mostly the heterotoxic syndrome (4 children. These data testify that in spite of the multifactorial genesis of the most of the congenital heart diseases and role of the unfavorable factors of the antenatal period, the genetic component influences with a great importance upon the prevalence rate of the malformations. 

  8. Brain volumes predict neurodevelopment in adolescents after surgery for congenital heart disease.

    Science.gov (United States)

    von Rhein, Michael; Buchmann, Andreas; Hagmann, Cornelia; Huber, Reto; Klaver, Peter; Knirsch, Walter; Latal, Beatrice

    2014-01-01

    Patients with complex congenital heart disease are at risk for neurodevelopmental impairments. Evidence suggests that brain maturation can be delayed and pre- and postoperative brain injury may occur, and there is limited information on the long-term effect of congenital heart disease on brain development and function in adolescent patients. At a mean age of 13.8 years, 39 adolescent survivors of childhood cardiopulmonary bypass surgery with no structural brain lesions evident through conventional cerebral magnetic resonance imaging and 32 healthy control subjects underwent extensive neurodevelopmental assessment and cerebral magnetic resonance imaging. Cerebral scans were analysed quantitatively using surface-based and voxel-based morphometry. Compared with control subjects, patients had lower total brain (P = 0.003), white matter (P = 0.004) and cortical grey matter (P = 0.005) volumes, whereas cerebrospinal fluid volumes were not different. Regional brain volume reduction ranged from 5.3% (cortical grey matter) to 11% (corpus callosum). Adolescents with cyanotic heart disease showed more brain volume loss than those with acyanotic heart disease, particularly in the white matter, thalami, hippocampi and corpus callosum (all P-values Brain volume reduction correlated significantly with cognitive, motor and executive functions (grey matter: P < 0.05, white matter: P < 0.01). Our findings suggest that there are long-lasting cerebral changes in adolescent survivors of cardiopulmonary bypass surgery for congenital heart disease and that these changes are associated with functional outcome.

  9. 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 ...

  10. Non-contrast MR angiography for diagnosis of congenital heart disease

    International Nuclear Information System (INIS)

    Matsuo, Mikaru; Yoshioka, Kunihiro; Takahashi, Shin; Oyama, Kotaro

    2006-01-01

    Fast imaging employing steady state acquisition (FIESTA) has been reported to be suitable for cardiac imaging in adolescents and adults. The purpose of this study was to establish the applicability and limitation of MR Angiography using FIESTA in the diagnosis of congenital heart disease. Thirty-five patients with congenital heart disease underwent MR Angiography using FIESTA and the 3D Gd-enhanced fast spoiled gradient recalled acquisition in the steady state (SPGR) technique. The measurements of the vascular diameters and diagnostic quality of the two techniques were compared. Correlations between FIESTA and the 3D Gd-fast SPGR technique were excellent in vascular diameter (aAo 0.90, arch 0.78, dAo 0.92, SCA 0.70, RPA 0.90, LPA 0.95). The agreement of the vascular diameters in the Bland-Altman method was good (aAo 0.22 mm, arch 0.07 mm, dAo 0.14 mm, SCA 0.31 mm, RPA 0.45 mm, LPA 0.12 mm). However, MR angiography (MRA) by 3D Gd-enhanced SPGR had a higher resolution than that by FIESTA. Due to signal loss caused at the regions of vascular stenosis or Blalock-Taussig shunt on FIESTA, we could not evaluate the vascular diameter or patency at those lesions. FIESTA is a useful technique of non-enhanced MRA for non-invasive diagnosis of congenital heart disease. However, MRA by FIESTA was not adequate for multiplanar reconstruction. (author)

  11. Adolescents and Adults with Congenital Heart Diseases in Oman

    Directory of Open Access Journals (Sweden)

    Asim Al-Balushi

    2015-01-01

    Full Text Available Objectives: The aim of our study was to examine the spectrum, demographics, and mortality rate among adolescents and adults with congenital heart diseases (CHD in Oman. Methods: Data was collected retrospectively from the Royal Hospital, Muscat, electronic health records for all patients with a diagnosis of CHD aged 13 years and above. Data was analyzed according to the type of CHD and in-hospital mortality was assessed using Kaplan-Meier survival analysis. Results: A total of 600 patients with CHD were identified, among them 145 (24% were aged 18 years or below. The median age was 24 years. The majority of patients had a simple form of CHD. Atrial and ventricular septal defects together constituted 62.8% of congenital heart diseases. Most patients were clustered in Muscat (32% and the Batinah regions (31.1% of Oman. Patients with tetralogy of Fallot and Fontan had shorter survival time than recorded in the published literature. Conclusion: Mostly simple forms of CHD in younger patients was observed. The survival rate was significantly shortened in more complex lesions compared to simple lesions. A national data registry for CHD is needed to address the morbidities and mortality associated with the disease.

  12. 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.

  13. Self-efficacy as a predictor of patient-reported outcomes in adults with congenital heart disease.

    Science.gov (United States)

    Thomet, Corina; Moons, Philip; Schwerzmann, Markus; Apers, Silke; Luyckx, Koen; Oechslin, Erwin N; Kovacs, Adrienne H

    2018-04-01

    Self-efficacy is a known predictor of patient-reported outcomes in individuals with acquired diseases. With an overall objective of better understanding patient-reported outcomes in adults with congenital heart disease, this study aimed to: (i) assess self-efficacy in adults with congenital heart disease, (ii) explore potential demographic and medical correlates of self-efficacy and (iii) determine whether self-efficacy explains additional variance in patient-reported outcomes above and beyond known predictors. As part of a large cross-sectional international multi-site study (APPROACH-IS), we enrolled 454 adults (median age 32 years, range: 18-81) with congenital heart disease in two tertiary care centres in Canada and Switzerland. Self-efficacy was measured using the General Self-Efficacy (GSE) scale, which produces a total score ranging from 10 to 40. Variance in the following patient-reported outcomes was assessed: perceived health status, psychological functioning, health behaviours and quality of life. Hierarchical multivariable linear regression analysis was performed. Patients' mean GSE score was 30.1 ± 3.3 (range: 10-40). Lower GSE was associated with female sex ( p = 0.025), not having a job ( p = 0.001) and poorer functional class ( p = 0.048). GSE positively predicted health status and quality of life, and negatively predicted symptoms of anxiety and depression, with an additional explained variance up to 13.6%. No associations between self-efficacy and health behaviours were found. GSE adds considerably to our understanding of patient-reported outcomes in adults with congenital heart disease. Given that self-efficacy is a modifiable psychosocial factor, it may be an important focus for interventions targeting congenital heart disease patients' well-being.

  14. 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.

  15. Pulmonary arterial hypertension associated with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Michele D'Alto

    2012-12-01

    Full Text Available Pulmonary arterial hypertension (PAH is a common complication of congenital heart disease (CHD, with most cases occurring in patients with congenital cardiac shunts. In patients with an uncorrected left-to-right shunt, increased pulmonary pressure leads to vascular remodelling and dysfunction, resulting in a progressive rise in pulmonary vascular resistance and increased pressures in the right heart. Eventually, reversal of the shunt may arise, with the development of Eisenmenger's syndrome, the most advanced form of PAH-CHD. The prevalence of PAH-CHD has fallen in developed countries over recent years and the number of patients surviving into adulthood has increased markedly. Today, the majority of PAH-CHD patients seen in clinical practice are adults, and many of these individuals have complex disease or received a late diagnosis of their defect. While there have been advances in the management and therapy in recent years, PAH-CHD is a heterogeneous condition and some subgroups, such as those with Down's syndrome, present particular challenges. This article gives an overview of the demographics, pathophysiology and treatment of PAH-CHD and focuses on individuals with Down's syndrome as an important and challenging patient group.

  16. Cine magnetic resonance imaging in congenital heart disease

    International Nuclear Information System (INIS)

    Akagi, Teiji; Kiyomatsu, Yumi; Kato, Hirohisa; Abe, Toushi; Nishimura, Hiroshi; Ohtake, Hisashi; Eto, Takaharu.

    1989-01-01

    Cine magnetic resonance imaging (MRI) was performed in 33 patients aged 19 days to 18 years (mean 5.1 years), who had congenital heart disease comfirmed at echocardiography or angiography. Prior to cine MRI, gated MRI with spin echo (SE) sequence was perfomed to evaluate cardiac structure. Cine MRI was demonstrated by fast low fip angle shot imaging technique with a 30 deg flip angle, 15 msec echo time, 30∼40 msec pulse repetition time, and 128X128 acquisition matrix. Abnormalities of cardiac structure were extremely well defined in all patients. Intracardiac and intravasucular blood flow were visualized with high signal intensity area, whereas ventricular filling flow and left to right shunt flow through ventricular septal defect and atrial septal defect were visualized with low signal intensity area. However, in the patients who had severe congestive heart failure or respiratory arrhythmia, the good recording of cine MRI was not obtained because of artifacts. Gated MRI with SE sequence provides excellent visualization of fine structures, and cine MRI can provide high spatial resolution imaging of flow dynamic in a variety of congenital heart disease, noninvasively. (author)

  17. 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.

  18. 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.

  19. Prevalence of Chagas disease in pregnant women and congenital transmission of Trypanosoma cruzi in Brazil: a systematic review and meta-analysis.

    Science.gov (United States)

    Martins-Melo, Francisco Rogerlândio; Lima, Mauricélia da Silveira; Ramos, Alberto Novaes; Alencar, Carlos Henrique; Heukelbach, Jörg

    2014-08-01

    To estimate the prevalence of Chagas disease in pregnant women and the risk of congenital transmission of Trypanosoma cruzi infection in Brazil, through a systematic review and meta-analysis. We searched electronic databases, grey literature and reference lists of included publications to identify epidemiological studies on the prevalence of Chagas disease in pregnant women and on the congenital transmission rate of T. cruzi infection in Brazil published between January 1980 and June 2013. Pooled estimates and 95% confidence intervals (95% CIs) were calculated using fixed- and random-effects models. Sixteen articles were included - 12 studies on the prevalence of Chagas disease in pregnant women (549,359 pregnant women) and nine on congenital transmission rates (1687 children born to infected mothers). Prevalence of Chagas disease in pregnant women ranged from 0.1% to 8.5%, and congenital transmission rates from 0% to 5.2%. The pooled prevalence of Chagas disease among pregnant women across studies was 1.1% (95% CI: 0.6-2.0); the pooled congenital transmission rate was 1.7% (95% CI: 0.9-3.1). In 2010, 34,629 pregnant women were estimated to be infected with T. cruzi, and 312-1073 children born (mean: 589 cases) with congenital infection. Congenital Chagas disease is a neglected public health problem in Brazil. Systematic congenital Chagas disease control programs through routine prenatal screening for T. cruzi should be widely implemented in Brazil's endemic areas, to identify infected pregnant women and newborns at risk of congenital infection. © 2014 John Wiley & Sons Ltd.

  20. Anaesthetic considerations in children with congenital heart disease undergoing non-cardiac surgery

    Directory of Open Access Journals (Sweden)

    Jagdish Menghraj Shahani

    2012-01-01

    Full Text Available The objective of this article is to provide an updated and comprehensive review on current perioperative anaesthetic management of paediatric patients with congenital heart disease (CHD coming for non-cardiac surgery. Search of terms such as "anaesthetic management," "congenital heart disease" and "non-cardiac surgery" was carried out in KKH eLibrary, PubMed, Medline and Google, focussing on significant current randomised control trials, case reports, review articles and editorials. Issues on how to tailor perioperative anaesthetic management on cases with left to right shunt, right to left shunt and complex heart disease are discussed in this article. Furthermore, the author also highlights special considerations such as pulmonary hypertension, neonates with CHD coming for extracardiac surgery and the role of regional anaesthesia in children with CHD undergoing non-cardiac operation.

  1. 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.

  2. Extraction of SelectSecure leads compared to conventional pacing leads in patients with congenital heart disease and congenital atrioventricular block.

    Science.gov (United States)

    Shepherd, Emma; Stuart, Graham; Martin, Rob; Walsh, Mark A

    2015-06-01

    SelectSecure™ pacing leads (Medtronic Inc) are increasingly being used in pediatric patients and adults with structural congenital heart disease. The 4Fr lead is ideal for patients who may require lifelong pacing and can be advantageous for patients with complex anatomy. The purpose of this study was to compare the extraction of SelectSecure leads with conventional (stylette-driven) pacing leads in patients with structural congenital heart disease and congenital atrioventricular block. The data on lead extractions from pediatric and adult congenital heart disease (ACHD) patients from August 2004 to July 2014 at Bristol Royal Hospital for Children and the Bristol Heart Institute were reviewed. Multivariable regression analysis was used to determine whether conventional pacing leads were associated with a more difficult extraction process. A total of 57 patients underwent pacemaker lead extractions (22 SelectSecure, 35 conventional). No deaths occurred. Mean age at the time of extraction was 17.6 ± 10.5 years, mean weight was 47 ± 18 kg, and mean lead age was 5.6 ± 2.6 years (range 1-11 years). Complex extraction (partial extraction/femoral extraction) was more common in patients with conventional pacing leads at univariate (P < .01) and multivariate (P = .04) levels. Lead age was also a significant predictor of complex extraction (P < .01). SelectSecure leads can be successfully extracted using techniques that are used for conventional pacing leads. They are less likely to be partially extracted and are less likely to require extraction using a femoral approach compared with conventional pacing leads. Copyright © 2015 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  3. The Perioperative Use of Dexmedetomidine in Pediatric Patients with Congenital Heart Disease: An Analysis from the Congenital Cardiac Anesthesia Society-Society of Thoracic Surgeons Congenital Heart Disease Database.

    Science.gov (United States)

    Schwartz, Lawrence I; Twite, Mark; Gulack, Brian; Hill, Kevin; Kim, Sunghee; Vener, David F

    2016-09-01

    Dexmedetomidine is a selective α-2 receptor agonist with a sedative and cardiopulmonary profile that makes it an attractive anesthetic for pediatric patients with congenital heart disease (CHD). Although several smaller, single-center studies suggest that dexmedetomidine use is gaining traction in the perioperative setting in children with CHD, there are limited multicenter data, with little understanding of the variation in use across age ranges, procedural complexity, and centers. The aim of this study was to use the Congenital Cardiac Anesthesia Society-Society of Thoracic Surgeons (CCAS-STS) registry to describe patient- and center-level variability in the use of dexmedetomidine in the perioperative setting in children with heart disease. To describe the use of dexmedetomidine in patients for CHD surgery, we analyzed all index cardiopulmonary bypass operations entered in the CCAS-STS database from 2010 to 2013. Patient and operative characteristics were compared between those who received intraoperative dexmedetomidine and those who did not. Selective outcomes associated with dexmedetomidine use were also described. Of the 12,142 operations studied, 3600 (29.6%) received perioperative dexmedetomidine (DEX) and 8542 did not receive the drug (NoDEX). Patient characteristics were different between the 2 groups with the DEX group generally exhibiting both lower patient and procedural risk factors. Patients who received dexmedetomidine were more likely to have a lower level of Society of Thoracic Surgeons mortality complexity than patient who did not receive it. Consistent with their overall lower risk profile, children in the DEX group also demonstrated improved outcomes compared with patients who did not receive dexmedetomidine. We described the growing use of dexmedetomidine in children anesthetized for surgical repair of CHD. Dexmedetomidine appears to be preferentially given to older and larger children who are undergoing less complex CHD surgery. We believe

  4. [Spontaneous models of human diseases in dogs: ichthyoses as an example].

    Science.gov (United States)

    André, Catherine; Grall, Anaïs; Guaguere, Éric; Thomas, Anne; Galibert, Francis

    2013-06-01

    Ichthyoses encompass a heterogeneous group of genodermatoses characterized by abnormal desquamation over the entire body due to defects of the terminal differentiation of keratinocytes and desquamation, which occur in the upper layer of the epidermis. Even though in humans more than 40 genes have already been identified, the genetic causes of several forms remain unknown and are difficult to identify in Humans. Strikingly, several purebred dogs are also affected by specific forms of ichthyoses. In the Golden retriever dog breed, an autosomal recessive form of ichthyosis, resembling human autosomal recessive congenital ichthyoses, has recently been diagnosed with a high incidence. We first characterized the disease occurring in the golden retriever breed and collected cases and controls. A genome-wide association study on 40 unrelated Golden retriever dogs, using the canine 49.000 SNPs (single nucleotide polymorphisms) array (Affymetrix v2), followed by statistical analyses and candidate gene sequencing, allowed to identify the causal mutation in the lipase coding PNPLA1 gene (patatin-like phospholipase domain-containing protein). Screening for alterations in the human ortholog gene in 10 autosomal recessive congenital ichthyoses families, for which no genetic cause has been identified thus far, allowed to identify two recessive mutations in the PNPLA1 protein in two families. This collaborative work between "human" and "canine" geneticists, practicians, histopathologists, biochemists and electron microscopy experts not only allowed to identify, in humans, an eighth gene for autosomal recessive congenital ichthyoses, but also allowed to highlight the function of this as-yet-unknown skin specific lipase in the lipid metabolism of the skin barrier. For veterinary medicine and breeding practices, a genetic test has been developed. These findings illustrate the importance of the discovery of relevant human orthologous canine genetic diseases, whose causes can be tracked

  5. Maternal global methylation status and risk of congenital heart diseases

    NARCIS (Netherlands)

    van Driel, Lydi M. J. W.; de Jonge, Robert; Helbing, Willem A.; van Zelst, Bertrand D.; Ottenkamp, Jaap; Steegers, Eric A. P.; Steegers-Theunissen, Regine P. M.

    2008-01-01

    OBJECTIVE: To investigate whether the association between the maternal methylation status as reflected by low S-adenosylmethionine and high S-adenosylhomocysteine, is detrimental for cardiogenesis and congenital heart disease (CHD) in the offspring. METHODS: As part of a case-control study in the

  6. Pictorial Review of Surgical Anatomy in Adult Congenital Heart Disease.

    Science.gov (United States)

    De Cecco, Carlo N; Muscogiuri, Giuseppe; Madrid Pérez, José M; Eid, Marwen; Suranyi, Pal; Lesslie, Virginia W; Bastarrika, Gorka

    2017-07-01

    The survival rate of patients with congenital heart disease (CHD) has dramatically improved over the last 2 decades because of technological and surgical advances in diagnosis and treatment, respectively. The vast majority of CHD patients are, in fact, amenable to treatment by either device closure or surgery. Considering the wide spectrum of surgical procedures and complex native and derived anatomy, continuous and detailed follow-up is of paramount importance. Cardiac magnetic resonance and cardiac computed tomography angiography are the cornerstones of diagnosis and follow-up of CHD, allowing for comprehensive noninvasive assessment of the heart, coronary tree, and intrathoracic great vessels, along with both morphological and functional evaluation. The aim of this pictorial review is to provide an overview of the most common CHDs and their related surgical procedures as familiarity with the radiological findings of grown-up congenital heart disease patients is crucial for proper diagnostic and follow-up pathways.

  7. Short-term outcomes following implementation of a dedicated young adult congenital heart disease transition program.

    Science.gov (United States)

    Vaikunth, Sumeet S; Williams, Roberta G; Uzunyan, Merujan Y; Tun, Han; Barton, Cheryl; Chang, Philip M

    2018-01-01

    Transition from pediatric to adult care is a critical time for patients with congenital heart disease. Lapses in care can lead to poor outcomes, including increased mortality. Formal transition clinics have been implemented to improve success of transferring care from pediatric to adult providers; however, data regarding outcomes remain limited. We sought to evaluate outcomes of transfer within a dedicated transition clinic for young adult patients with congenital heart disease. We performed a retrospective analysis of all 73 patients seen in a dedicated young adult congenital heart disease transition clinic from January 2012 to December 2015 within a single academic institution that delivered pediatric and adult care at separate children's and adult hospitals, respectively. Demographic characteristics including congenital heart disease severity, gender, age, presence of comorbidities, presence of cardiac implantable electronic devices, and type of insurance were correlated to success of transfer. Rate of successful transfer was evaluated, and multivariate analysis was performed to determine which demographic variables were favorably associated with transfer. Thirty-nine percent of patients successfully transferred from pediatric to adult services during the study period. Severe congenital heart disease (OR 4.44, 95% CI 1.25-15.79, P = .02) and presence of a cardiac implantable electronic device (OR 4.93, 95% CI 1.18-20.58, P = .03) correlated with transfer. Trends favoring successful transfer with presence of comorbidities and private insurance were also noted. Despite a dedicated transition clinic, successful transfer rates remained relatively low though comparable to previously published rates. Severity of disease and presence of implantable devices correlated with successful transfer. Other obstacles to transfer remain and require combined efforts from pediatric and adult care systems, insurance carriers, and policy makers to improve transfer outcomes.

  8. Dog as a model in studies on human hereditary diseases and their gene therapy.

    Science.gov (United States)

    Switonski, Marek

    2014-03-01

    During the last 15 years spectacular progress has been achieved in knowledge on the dog genome organization and the molecular background of hereditary diseases in this species. A majority of canine genetic diseases have their counterparts in humans and thus dogs are considered as a very important large animal model in human biomedicine. Among canine monogenic diseases with known causative gene mutations there are two large groups classified as retinal dystrophies and lysosomal storage diseases. Specific types of these diseases are usually diagnosed in a single or several breeds. A well known disorder, restricted to a single breed, is congenital stationary night blindness described in Briards. This disease is a counterpart of Leber amaurosis in children. On the other hand, one of the most common monogenic human diseases (Duchenne muscular dystrophy), has its canine counterparts in several breeds (e.g., the Golden retriever, Beagle and German short-haired pointer). For some of the canine diseases gene therapy strategy was successfully applied, e.g., for congenital stationary night blindness, rod-cone dystrophy and muccopolysaccharydoses type I, IIIB and VII. Since phenotypic variability between the breeds is exceptionally high, the dog is an interesting model to study the molecular background of congenital malformations (e.g., dwarfism and osteoporosis imperfecta). Also disorders of sexual development (DSD), especially testicular or ovotesticular DSD (78,XX; SRY-negative), which is widely distributed across dozens of breeds, are of particular interest. Studies on the genetic background of canine cancers, a major health problem in this species, are also quite advanced. On the other hand, genetic studies on canine counterparts of major human complex diseases (e.g., obesity, the metabolic syndrome and diabetes mellitus) are still in their infancy. Copyright © 2014 Society for Biology of Reproduction & the Institute of Animal Reproduction and Food Research of Polish

  9. Congenital Hypothyroidism

    Science.gov (United States)

    ... Disease Featured Resource Find an Endocrinologist Search Congenital Hypothyroidism March 2012 Download PDFs English Espanol Editors Rosalind S. ... Resources MedlinePlus (NIH) Mayo Clinic What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  10. Congenital heart diseases in a reference service: clinical evolution and associated illnesses.

    Science.gov (United States)

    Huber, Janaína; Peres, Vivian Catarino; Santos, Tiago Jeronimo dos; Beltrão, Lauro da Fontoura; Baumont, Angélica Cerveira de; Cañedo, Andrés Delgado; Schaan, Beatriz D'Agord; Pellanda, Lucia Campos

    2010-03-01

    Several factors, which include prenatal diagnosis and availability of new therapeutic procedures, have contributed to change the profile of patients with congenital heart disease (CHD). Knowing these changes is important to a better health care. Description of profile of patients with CHD in a reference service in the State of Rio Grande do Sul, Brazil. It is a cross-sectional study including 684 patients with CHD in a service of pediatric cardiology from January 2007 to May 2008. We interviewed the patients (and/or their parents) and examined these patients (congenital malformations, anthropometric measures). Moreover, their charts were reviewed in order to detail heart diseases, procedures and echocardiography. Patients were from 16 days to 66 years old, 51.8% were female, and 93.7% were Caucasian. The mean age at diagnosis was 15.8 +/- 46.8 months. Ventricular septal defect, patent ductus arteriosus and Tetralogy of Fallot were the most prevalent CHD. 59.1% of examined patients, whose average age was 44.3 +/- 71.2 months, have been undergoing therapeutic procedures; 30.4% had congenital extracardiac malformations; and 12 patients had genetic syndrome. Regarding development, 46.6% had low weight and height gain, and 13.7% had neuropsychomotor delay. Furthermore, 18.4% had family history of congenital heart disease. Neuropsychomotor delay and low weight and height gain may be related to CHD. Establishing a profile of patients with CHD, who were treated at an institution of reference, may function as a basis in which health care of this population can be planed appropriately.

  11. Understanding the physiology of complex congenital heart disease using cardiac magnetic resonance imaging

    International Nuclear Information System (INIS)

    Kappanayil, Mahesh; Kannan, Rajesh; Kumar, Raman Krishna

    2011-01-01

    Complex congenital heart diseases are often associated with complex alterations in hemodynamics. Understanding these key hemodynamic changes is critical to making management decisions including surgery and postoperative management. Existing tools for imaging and hemodynamic assessment like echocardiography, computed tomography and cardiac catheterization have inherent limitations. Cardiac magnetic resonance imaging (MRI) is emerging as a powerful bouquet of tools that allow not only excellent imaging, but also a unique insight into hemodynamics. This article introduces the reader to cardiac MRI and its utility through the clinical example of a child with a complex congenital cyanotic heart disease

  12. A pilot study of expenditures on, and utilization of resources in, health care in adults with congenital heart disease.

    Science.gov (United States)

    Moons, P; Siebens, K; De Geest, S; Abraham, I; Budts, W; Gewillig, M

    2001-05-01

    Congenital cardiac disease may be a chronic condition, necessitating life-long follow-up for a substantial proportion of the patients. Such patients, therefore, are often presumed to be high users of resources for health care. Information on utilization of resources in adults with congenital heart disease, however, is scarce. This retrospective pilot study, performed in Belgium, investigated 192 adults with congenital heart disease to measure the annual expenditures and utilization of health care and compared the findings with data from the general population. We also sought to explore demographic and clinical parameters as predictors for the expenditures. Hospitalization was documented in 20.3% of the patients, with a median length of stay of 5 days. The overall payment by health insurance associations in 1997 was 1794.5 ECU per patient, while patients paid on average 189.5 ECU out-of-pocket. For medication, the average reimbursement and out-of-pocket expenses were estimated at 78 ECU and 20 ECU, respectively. Expenditures for patients with congenital heart disease were considerably higher than the age and gender-corrected expenditures for the general population (411.7 ECU), though this difference was accounted for by only one-eighth of the cohort of those with congenital heart disease. In general, higher expenditures were associated with abnormal left ventricular end-diastolic diameter, female gender, functional impairment and higher age, although the explained variance was limited. Our study has provided pilot data on the economic outcomes for patients with congenital heart diseases. We have identified parameters that could predict expenditure, but which will have to be examined in future research. This is needed to develop guidelines for health insurance for those with congenital heart diseases.

  13. Congenital Diaphragmatic Hernia: Long-term Risk of Gastroesophageal Reflux Disease

    NARCIS (Netherlands)

    Peetsold, Marieke G.; Kneepkens, C. M. F. Frank; Heij, Hugo A.; Ijsselstijn, Hanneke; Tibboel, Dick; Gemke, Reinoud J. B. J.

    2010-01-01

    Objectives: Gastroesophageal reflux disease (GERD) is a well-recognized consequence of congenital diaphragmatic hernia (CDH). Results of studies examining predictive factors for early and late GERD are inconclusive. The aim of this study was to assess the incidence of early ( <2 years) and late GERD

  14. Congenital Diaphragmatic Hernia: Long-term Risk of Gastroesophageal Reflux Disease

    NARCIS (Netherlands)

    Peetsold, M.G.; Kneepkens, C.M.F.; Heij, H.A.; IJsselstijn, H.; Tibboel, D.; Gemke, R.J.B.J.

    2010-01-01

    Objectives: Gastroesophageal reflux disease (GERD) is a well-recognized consequence of congenital diaphragmatic hernia (CDH). Results of studies examining predictive factors for early and lateGERDare inconclusive. The aim of this study was to assess the incidence of early (<2 years) and late GERD

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

    Science.gov (United States)

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

    2014-10-16

    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. A cross-sectional study with 316 children and adolescents with congenital heart disease seen in an outpatient clinic of a reference hospital. Collected sociodemographic data included family history of chronic disease, dietary habits, laboratory tests (total cholesterol, HDL and LDL/cholesterol, triglycerides, fasting glucose, CRP, hematocrit and hemoglobin), and anthropometric assessment. Anthropometric data of the caregivers was self-reported. The prevalence of excess weight was 26.9%. Altered levels of total cholesterol were observed in 46.9%, of HDL in 32.7%, LDL in 23.6% and of triglycerides levels in 20.0%. A higher frequency of family history of obesity (42.6%; p = 0.001), dyslipidemia (48.1%; p = heart disease, it is particularly important to promote a healthy lifestyle in this group.

  16. Psychosocial aspects of congenital heart disease in adulthood: A longitudinal cohort study of 20-33 years follow-up

    NARCIS (Netherlands)

    E.H.M. van Rijen (Susan)

    2003-01-01

    markdownabstract__Abstract__ Adults with congenital heart disease form a rather new phenomenon. Improvements in surgical techniques over the last decades have lead to lower mortality rates for children born with a congenital heart disease, enabling more of them to grow into adulthood

  17. [Autosomal-recessive renal cystic disease and congenital hepatic fibrosis: clinico-anatomic case].

    Science.gov (United States)

    Rostol'tsev, K V; Burenkov, R A; Kuz'micheva, I A

    2012-01-01

    Clinico-anatomic observation of autosomal-recessive renal cystic disease and congenital hepatic fibrosis at two fetuses from the same family was done. Mutation of His3124Tyr in 58 exon of PKHD1 gene in heterozygous state was found out. The same pathomorphological changes in the epithelium of cystic renal tubules and bile ducts of the liver were noted. We suggest that the autopsy research of fetuses with congenital abnormalities, detected after prenatal ultrasonic screening, has high diagnostic importance.

  18. NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome - 2018. In this Table, provisional cases of selected notifiable diseases (≥1,000 cases reported...

  19. NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome

    Data.gov (United States)

    U.S. Department of Health & Human Services — NNDSS - Table II. Rabies, animal to Rubella, congenital syndrome - 2017. In this Table, provisional cases of selected notifiable diseases (≥1,000 cases reported...

  20. Isolated and syndromic forms of congenital anosmia

    DEFF Research Database (Denmark)

    Karstensen, H G; Tommerup, N

    2012-01-01

    . Despite a strong degree of heritability, no human disease-causing mutations have been identified. Anosmia is part of the clinical spectrum in various diseases, as seen in Kallmann syndrome, various ciliopathies and congenital insensitivity to pain. This review will focus on ICA through already published......Loss of smell (anosmia) is common in the general population and the frequency increases with age. A much smaller group have no memory of ever being able to smell and are classified as having isolated congenital anosmia (ICA). Families are rare, and tend to present in a dominant inheritance pattern...... families and cases as well as syndromes where anosmia is part of the clinical disease spectrum. Furthermore, olfactory signal transduction pathway genes and animal models may shed light on potential candidate genes and pathways involved in ICA....

  1. Congenital chylous ascites

    International Nuclear Information System (INIS)

    Romanska-Kita, J.; Borszewska-Kornacka, M. K.; Rudzinska, I.; Wawrzoniak, T.; Dobrzanska, A.; Czech-Kowalska, J.

    2011-01-01

    Congenital chylous ascites is a rare entity, conditioned by numerous factors and with changing dynamics of the disease. Because of the lack of therapeutic and diagnostic standards, this disease constitutes to be a medical challenge. This article presents current knowledge on pathogenesis, diagnostics and management of this disease, as well as a case of a newborn with primary congenital chylous ascites in the abdominal cavity. (authors)

  2. Impact of Telemedicine in the Screening for Congenital Heart Disease in a Center from Northeast Brazil.

    Science.gov (United States)

    de Araújo, Juliana Sousa Soares; Regis, Cláudio Teixeira; Gomes, Renata Grigório Silva; Mourato, Felipe Alves; Mattos, Sandra da Silva

    2016-12-01

    To describe the incidence of congenital heart disease before and after the establishment of a telemedicine screening program, in a reference center from Northeast Brazil. This is a descriptive, retrospective and comparative study based on the institutional data from a reference center in perinatology for a period of 16 years. Institutional data were collected from a 16-year period (2001-15). Data were divided into two periods: prior to (2001-11) and after (2012-15) the establishment of a telemedicine screening program. After the implementation of the screening process, almost all kinds of heart disease showed a significant increase in their incidence (p  <  0.05). With this, the incidence of major heart diseases approached those specified in developed regions. The implementation of a screening process model for congenital heart diseases can change the context of patients with congenital heart diseases in poor regions. © The Author [2016]. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  3. The commonest mistakes in the treatment of adult patients with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Jure Dolenc

    2012-04-01

    Full Text Available Background: General practitioners and medical specialists are seeing adults with congenital heart disease in their everyday practice more frequently than ever. The lack of experience and knowledge in this field of cardiology often leads to mistakes in the treatment of these patients. The purpose of this article is to point out the commonest problems and mistakes in dealing with this group of patients. Conclusions: In the following article we pointed out the commonest problems and mistakes in dealing with adults with congenital heart disease, such as differing various types of atrial septal defects and differing atrial septal defect from patent foramen ovale. We also pointed out the commonest mistakes in dealing with patients with cyanotic heart disease, especially those with Eisenmenger syndrome.

  4. Bone marrow morphology and disease progression in congenital thrombocytopenia: a detailed clinicopathologic and genetic study of eight cases.

    Science.gov (United States)

    Tsang, Hamilton C; Bussel, James B; Mathew, Susan; Liu, Yen-Chun; Imahiyerobo, Allison A; Orazi, Attilio; Geyer, Julia T

    2017-04-01

    Patients with congenital thrombocytopenia have an increased risk of developing myeloid neoplasms. In these cases, the morphologic distinction between disease at baseline and at progression is challenging. This report analyzes clinicopathologic features of congenital thrombocytopenia with long-term follow-up at one referral center. Records from the last 20 years were searched for cases of congenital thrombocytopenia with bone marrow biopsies and peripheral blood smears. The clinical, morphologic, immunophenotypic, and molecular features were analyzed. Six adult and two pediatric patients were identified (six male, two female). Age range at first biopsy was 1-47 (median, 31) years. Underlying diseases included thrombocytopenia-absent radius syndrome, congenital thrombocytopenia with radial-ulnar synostosis, MYH9-related disorder, shortened telomere syndrome, congenital thrombocytopenia with ANKRD26 mutation, and familial platelet disorder with predisposition to acute myeloid leukemia. Four patients had myelodysplastic/myeloproliferative neoplasm-like marrow changes such as hypercellularity, increased myeloid to erythroid ratio, numerous micromegakaryocytes (highlighted by CD42b), and marrow fibrosis. Two patients had marrow hypoplasia and two had unremarkable marrow morphology. Three patients-all in the myelodysplastic/myeloproliferative neoplasm-like group-developed disease progression characterized by erythroid and myeloid dysplasia, elevated bone marrow blasts, and new cytogenetic abnormalities. Unlike non-familial myeloid neoplasms, congenital thrombocytopenia patients in the myelodysplastic/myeloproliferative neoplasm-like group had a long and indolent clinical course (average age at disease progression, 47 years). In summary, three distinct morphologic types of congenital thrombocytopenia were identified: a hyperplastic myelodysplastic/myeloproliferative neoplasm-like group, a hypoplastic bone marrow failure-like group, and a group with relatively normal marrow

  5. Evaluation of congenital heart disease by three-dimensional MR imaging

    International Nuclear Information System (INIS)

    Vannier, M.W.; Gutierrez, F.R.; Canter, C.E.; Yoffie, R.L.; Hildebolt, C.F.

    1988-01-01

    In an evaluation of the detectability of intra-and extracardiac morphologic defects with electrocardiographically gated magnetic resonance (MR) imaging, 100 patients were studied, including ten without and 90 with abnormalities. The abnormalities included septal defects, tetrology of Fallot, pulmonary atresia, transposition of the great vessels, and others. The patients with abnormalities were studied angiographically and with echocardiographic analyses. Two radiologists with cardiac MR imaging experience evaluated the scans in a blinded fashion, and the results were analyzed by means of receiver operating characteristic analysis. The diagnostic value of routine two-dimensional cardiac MR imaging was compared with that of three-dimensional reconstruction imaging and with the results of cardiac catheterization and echocardiography. The reported sensitivity and specificity of echocardiography in the detection of congenital heart disease is comparable to that of MR imaging. The differences in diagnostic value between various modalities for the imaging of congenital heart disease may be determined from the results of the preliminary series

  6. Muscle-Eye-Brain Disease; a Rare Form of Syndromic Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    Gosal Gurinder S

    2011-03-01

    Full Text Available Congenital muscular dystrophy (CMD is a heterogeneous group of disorders characterized by muscular hypotonia since birth and the histologic features of muscular dystrophy. Syndromic congenital muscular dystrophies are clinically similar autosomal recessive disorders characterized by congenital muscular dystrophy, lissencephaly, and eye anomalies. We present a case of a rare form of syndromic congenital muscular dystrophy in an eight year old girl, born of first- degree consanguinity. She had: global developmental delay; a seizure disorder; hypotonia; progressive muscle contractures including bilateral symmetrical flexion contractures of hips, knees, equinus contracture and thoracolumbar scoliosis; diminished deep tendon reflexes: bilateral premature cataract; pseudophakia; and nystagmus. The patient was also highly myopic. Based on clinical features, muscle biopsy and MRI of the brain, a diagnosis of muscle- eye- brain disease was made. Identification of these patients may help to prevent this crippling disorder in the future siblings of probands by utilizing genetic counselling and mutation analysis.

  7. Assessment of adult congenital heart disease with multi-detector computed tomography - beyond coronary lumenography

    International Nuclear Information System (INIS)

    Nicol, E.D.; Gatzoulis, M.; Padley, S.P.G.; Rubens, M.

    2007-01-01

    Adult congenital heart disease is an increasingly prevalent condition with more than 135,000 patients affected in England alone. With this increased patient population and an increase in interventional procedures being performed on them, traditional imaging techniques such as cardiac magnetic resonance (CMR) may be unavailable locally or contra-indicated. Cardiac multidetector computed tomography (MDCT) is rapidly emerging as an alternative imaging method for the investigation of these patients and this review highlights the broad application of cardiac MDCT to this population and makes recommendations on the stardardized reporting of complex congenital heart disease

  8. Assessment of adult congenital heart disease with multi-detector computed tomography - beyond coronary lumenography

    Energy Technology Data Exchange (ETDEWEB)

    Nicol, E.D. [Department of Radiology, Royal Brompton Hospital, London (United Kingdom) and Department of Cardiology, Royal Brompton Hospital, London (United Kingdom)]. E-mail: e.nicol@rbht.nhs.uk; Gatzoulis, M. [Adult Congenital Heart Centre and Centre for Pulmonary Hypertension, Royal Brompton Hospital and National Heart and Lung Institute, London (United Kingdom); Padley, S.P.G. [Department of Radiology, Royal Brompton Hospital, London (United Kingdom); Rubens, M. [Department of Radiology, Royal Brompton Hospital, London (United Kingdom)

    2007-06-15

    Adult congenital heart disease is an increasingly prevalent condition with more than 135,000 patients affected in England alone. With this increased patient population and an increase in interventional procedures being performed on them, traditional imaging techniques such as cardiac magnetic resonance (CMR) may be unavailable locally or contra-indicated. Cardiac multidetector computed tomography (MDCT) is rapidly emerging as an alternative imaging method for the investigation of these patients and this review highlights the broad application of cardiac MDCT to this population and makes recommendations on the stardardized reporting of complex congenital heart disease.

  9. Early detection of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Nagalakshmi Chowdhary

    2014-01-01

    Full Text Available Late congenital syphilis is a very rare clinical entity, and its early diagnosis and treatment is essential. Dental findings often provide valuable evidence for the diagnosis of late congenital syphilis. It occurs due to the transmission of the disease from an infected mother to her fetus through placenta. This long forgotten disease continues to effect pregnant women resulting in perinatal morbidity and mortality. Congenital syphilis is a preventable disease, and its presence reflects a failure of prenatal care delivery system, as well as syphilis control programs. We are reporting a case of late congenital syphilis with only Hutchinson′s teeth.

  10. Disease-modifying anti-rheumatic drug use in pregnant women with rheumatic diseases: a systematic review of the risk of congenital malformations.

    Science.gov (United States)

    Baldwin, Corisande; Avina-Zubieta, Antonio; Rai, Sharan K; Carruthers, Erin; De Vera, Mary A

    2016-01-01

    Despite the high incidence of rheumatic diseases during the reproductive years, little is known about the impact of disease-modifying anti-rheumatic drug (DMARD) use during pregnancy. Our objective was to systematically review and appraise evidence in women with rheumatic disease on the use of traditional and biologic DMARDs during pregnancy and the risk of congenital malformation outcomes. We conducted a systematic search of MEDLINE, EMBASE, and INTERNATIONAL PHARMACEUTICAL ABSTRACTS databases. Inclusion criteria were: 1) study sample including women with rheumatic disease; 2) use of traditional and/or biologic DMARDs during pregnancy; and 3) congenital malformation outcome(s) reported. We extracted information on study design, data source, number of exposed pregnancies, type of DMARD, number of live births, and number of congenital malformations. Altogether, we included 79 studies; the majority were based on designs that did not involve a comparison group, including 26 case reports, 17 case series, 20 cross-sectional studies, and 4 surveys. Studies that had a comparator group included 1 case control, 10 cohort studies, and 1 controlled trial. Hydroxychloroquine and azathioprine represent the most studied traditional DMARD exposures and, among biologics, most of the reports were on infliximab and etanercept. This is the first systematic review on the use of both traditional and biologic DMARDs during pregnancy among women with rheumatic diseases and congenital malformation outcomes, with a focus on study design and quality. Findings confirm the limited number of studies, as well as the need to improve study designs.

  11. The investigation on hereditary disease and congenital malformation in the surrounding area of the nuclear test site in Xinjiang

    International Nuclear Information System (INIS)

    Zou Wenliang; Zhang Jujing

    1989-01-01

    The investigation on hereditary disease and congenital malformation, on the children below eleven years old and living in the surrounding area of the nuclear test site and control area is reported. The total prevalence rate of the ninteen kinds of hereditary disease and congenital malformation in both areas are 7.12%0 and 7.28%0, respectively. The prevalence rate of congenital foolishness in investigation area is 0.64%0; while in control area, it is 0.54%0. There is no significant difference between the two areas. However, it is found that the prevalence rate of harelip in investigation area is higher than in control area, whereas the prevalence rate of congenital heart disease in control area is higher than in investigation area. As for the rests there is no significant difference. There is no significant difference between the two areas. It is concluded that nuclear tests in China did not cause hereditary disease and congenital malformation for the children who live in surrounding area, of the nuclear test site

  12. Anaesthesia for the child with congenital heart disease: pointers and ...

    African Journals Online (AJOL)

    Increased pulmonary blood flow (PBF) causes a volume or pressure overload to the ... venous drainage (TAPVD), high left atrial pressure (e.g. hypoplastic left heart ... function. Congenital heart disease (CHD) is the commonest birth defect, with a reported .... Is there valve regurgitation? ... tubing to avoid systemic air emboli.

  13. Using Human Induced Pluripotent Stem Cells to Model Skeletal Diseases.

    Science.gov (United States)

    Barruet, Emilie; Hsiao, Edward C

    2016-01-01

    Musculoskeletal disorders affecting the bones and joints are major health problems among children and adults. Major challenges such as the genetic origins or poor diagnostics of severe skeletal disease hinder our understanding of human skeletal diseases. The recent advent of human induced pluripotent stem cells (human iPS cells) provides an unparalleled opportunity to create human-specific models of human skeletal diseases. iPS cells have the ability to self-renew, allowing us to obtain large amounts of starting material, and have the potential to differentiate into any cell types in the body. In addition, they can carry one or more mutations responsible for the disease of interest or be genetically corrected to create isogenic controls. Our work has focused on modeling rare musculoskeletal disorders including fibrodysplasia ossificans progressive (FOP), a congenital disease of increased heterotopic ossification. In this review, we will discuss our experiences and protocols differentiating human iPS cells toward the osteogenic lineage and their application to model skeletal diseases. A number of critical challenges and exciting new approaches are also discussed, which will allow the skeletal biology field to harness the potential of human iPS cells as a critical model system for understanding diseases of abnormal skeletal formation and bone regeneration.

  14. Computational modeling and engineering in pediatric and congenital heart disease.

    Science.gov (United States)

    Marsden, Alison L; Feinstein, Jeffrey A

    2015-10-01

    Recent methodological advances in computational simulations are enabling increasingly realistic simulations of hemodynamics and physiology, driving increased clinical utility. We review recent developments in the use of computational simulations in pediatric and congenital heart disease, describe the clinical impact in modeling in single-ventricle patients, and provide an overview of emerging areas. Multiscale modeling combining patient-specific hemodynamics with reduced order (i.e., mathematically and computationally simplified) circulatory models has become the de-facto standard for modeling local hemodynamics and 'global' circulatory physiology. We review recent advances that have enabled faster solutions, discuss new methods (e.g., fluid structure interaction and uncertainty quantification), which lend realism both computationally and clinically to results, highlight novel computationally derived surgical methods for single-ventricle patients, and discuss areas in which modeling has begun to exert its influence including Kawasaki disease, fetal circulation, tetralogy of Fallot (and pulmonary tree), and circulatory support. Computational modeling is emerging as a crucial tool for clinical decision-making and evaluation of novel surgical methods and interventions in pediatric cardiology and beyond. Continued development of modeling methods, with an eye towards clinical needs, will enable clinical adoption in a wide range of pediatric and congenital heart diseases.

  15. Microbiology of destructive periodontal disease in adolescent patients with congenital neutropenia - A report of 3 cases

    NARCIS (Netherlands)

    van Winkelhoff, AJ; Schouten-van Meeteren, AYN; Baart, JA; Vandenbroucke-Grauls, CMJE

    Background, aims: Congenital neutropenia is one condition that may predispose for destructive periodontal disease at a young age. In this report, we describe the microbiology of 3 adolescent patients with congenital neutropenia two of whom suffered from severe periodontitis. Method: Microbiological

  16. ALDH1A2 (RALDH2 genetic variation in human congenital heart disease

    Directory of Open Access Journals (Sweden)

    Mesquita Sonia MF

    2009-11-01

    Full Text Available Abstract Background Signaling by the vitamin A-derived morphogen retinoic acid (RA is required at multiple steps of cardiac development. Since conversion of retinaldehyde to RA by retinaldehyde dehydrogenase type II (ALDH1A2, a.k.a RALDH2 is critical for cardiac development, we screened patients with congenital heart disease (CHDs for genetic variation at the ALDH1A2 locus. Methods One-hundred and thirty-three CHD patients were screened for genetic variation at the ALDH1A2 locus through bi-directional sequencing. In addition, six SNPs (rs2704188, rs1441815, rs3784259, rs1530293, rs1899430 at the same locus were studied using a TDT-based association approach in 101 CHD trios. Observed mutations were modeled through molecular mechanics (MM simulations using the AMBER 9 package, Sander and Pmemd programs. Sequence conservation of observed mutations was evaluated through phylogenetic tree construction from ungapped alignments containing ALDH8 s, ALDH1Ls, ALDH1 s and ALDH2 s. Trees were generated by the Neighbor Joining method. Variations potentially affecting splicing mechanisms were cloned and functional assays were designed to test splicing alterations using the pSPL3 splicing assay. Results We describe in Tetralogy of Fallot (TOF the mutations Ala151Ser and Ile157Thr that change non-polar to polar residues at exon 4. Exon 4 encodes part of the highly-conserved tetramerization domain, a structural motif required for ALDH oligomerization. Molecular mechanics simulation studies of the two mutations indicate that they hinder tetramerization. We determined that the SNP rs16939660, previously associated with spina bifida and observed in patients with TOF, does not affect splicing. Moreover, association studies performed with classical models and with the transmission disequilibrium test (TDT design using single marker genotype, or haplotype information do not show differences between cases and controls. Conclusion In summary, our screen indicates that

  17. Effect of maternal age and cardiac disease severity on outcome of pregnancy in women with congenital heart disease.

    Science.gov (United States)

    Furenäs, Eva; Eriksson, Peter; Wennerholm, Ulla-Britt; Dellborg, Mikael

    2017-09-15

    There is an increasing prevalence of women with congenital heart defects reaching childbearing age. In western countries women tend to give birth at a higher age compared to some decades ago. We evaluated the CARdiac disease in PREGnancy (CARPREG) and modified World Health Organization (mWHO) risk classifications for cardiac complications during pregnancies in women with congenital heart defects and analyzed the impact of age on risk of obstetric and fetal outcome. A single-center observational study of cardiac, obstetric, and neonatal complications with data from cardiac and obstetric records of pregnancies in women with congenital heart disease. Outcomes of 496 pregnancies in 232 women, including induced abortion, miscarriage, stillbirth, and live birth were analyzed regarding complications, maternal age, mode of delivery, and two risk classifications: CARPREG and mWHO. There were 28 induced abortions, 59 fetal loss, 409 deliveries with 412 neonates. Cardiac (14%), obstetric (14%), and neonatal (15%) complications were noted, including one maternal death and five stillbirths. The rate of cesarean section was 19%. Age above 35years was of borderline importance for cardiac complications (p=0.054) and was not a significant additional risk factor for obstetric or neonatal complications. Both risk classifications had moderate clinical utility, with area under the curve (AUC) 0.71 for CARPREG and 0.65 for mWHO on cardiac complications. Pregnancy complications in women with congenital heart disease are common but severe complications are rare. Advanced maternal age does not seem to affect complication rate. Existing risk classification systems are insufficient in predicting complications. Copyright © 2017 Elsevier B.V. All rights reserved.

  18. Utility of computed axial tomography angiography in anatomic evaluation of pediatric patients with congenital heart diseases

    International Nuclear Information System (INIS)

    Mosquera, Walter A; Reyes P, Rafael; Aguilera N, Favio M; Breton, Cesar A; Buitrago, Danuby A; Suarez J Ramiro; Castillo, Victor

    2007-01-01

    Although echocardiogram and cardiac catheterization are used as first option tools for congenital heart diseases diagnosis, computed tomography angiography is a minimally invasive exam that through two to three dimensional images in real time gives an adequate approach to patients having this type of pathologies that require a rapid and precise evaluation of its extra cardiac anatomy. Objective: describe the institutional experience from August 2005 to August 2006 in the use of angiography by tomography as a complementary diagnostic method in the evaluation of pediatric patients with congenital heart diseases. Method: serial descriptive study. 58 pediatric patients with clinical and echocardiographic diagnosis of congenital heart diseases were evaluated through the General Electric Multislice Light peed/16 scanner. Results: 58 patients with history of congenital heart disease were evaluated through CT angiography. Mean age was 2.4 ± 4.03 years. Twenty (33.8%) had diagnosis of pulmonary atresia, four (6.7%) had tricuspid atresia, eight (13.5%,) had double-outlet right ventricle, seven (11.8%) had tetralogy of Fallot, nine (15.2%) had alterations of the aortic arch, seven (11.8%) had coarctation of the aorta two (3.3%) had interrupted aortic arch, six (10.3%) had persistent ductus arteriosus, four (6.7%) had anomalous venous drainage and three (5.1 %) had transposition of the great arteries. High quality images that allowed assessing the precise vascular anatomy were obtained. Conclusions: computed tomography angiography turned out to be a useful tool in the diagnostic approach of congenital heart diseases, because it allowed a tridimensional anatomic reconstruction. New studies that may permit the assessment of sensitivity, specificity and concordance level of this technique with other invasive diagnostic methods available for the diagnosis of this type of diseases, are required

  19. Coping Behaviors of Parents with Children with Congenital Heart Disease.

    Science.gov (United States)

    Strobino, Jane

    The study addresses parental coping patterns of children with congenital heart disease in the state of Hawaii. Attention was given to geography and ethnicity as well as parental and child characteristics as factors impacting on the coping pattern. Telephone interviews with parents (N=32) obtained data concerning parent characteristics, their…

  20. 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.

  1. 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.

    OBJECTIVES: 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

  2. The accuracy of chest radiographs in the detection of congenital heart disease and in the diagnosis of specific congenital cardiac lesions

    International Nuclear Information System (INIS)

    Laya, Bernard F.; Goske, Marilyn J.; Morrison, Stuart; Reid, Janet R.; Swischuck, Leonard; Ey, Elizabeth H.; Murphy, Daniel J.; Lieber, Michael; Obuchowski, Nancy

    2006-01-01

    Congenital heart disease (CHD) is a significant cause of morbidity and mortality in pediatric patients. Traditional teaching holds that specific types of CHD can be diagnosed on the chest radiograph (CXR) through pattern recognition. To determine the accuracy of radiologists in detecting CHD on the CXR. This study was a blinded retrospective review of chest radiographs from 281 patients (<12 years) by five pediatric radiologists from three institutions. Thirteen groups were evaluated that included 12 categories of CHD and a control group of patients without heart disease. Radiographs were assessed for heart size, heart and mediastinal shape and vascularity. Clinical information, angiography, echocardiograms and surgery were used as the gold standard for definitive diagnosis. The average accuracy of the five readers in distinguishing normal from CHD patients was 78% (range of 72% to 82%). The overall measure of accuracy in distinguishing specific congenital cardiac lesions among 13 groups of patients was 71% (range of 63% to 79%). CXR alone is not diagnostic of specific cardiac lesions, with a low accuracy of only 71%. We believe that less emphasis should be placed on the use of radiographs alone in diagnosing specific congenital cardiac lesions. (orig.)

  3. Outcomes of Congenital Zika Disease Depend on Timing of Infection and Maternal-Fetal Interferon Action

    Directory of Open Access Journals (Sweden)

    Jinling Chen

    2017-11-01

    Full Text Available Zika virus (ZIKV infection during pregnancy in humans results in intrauterine growth restriction, spontaneous abortion, and microcephaly. Here, we found that fetus-derived type I interferon (IFN-I signaling can enhance anti-ZIKV responses and provide clinical benefits to the fetus. Because IFN-λ shares signaling cascades and antiviral functions with IFN-I, we investigated the in vivo effects of IFN-λ in ZIKV-infected pregnant mice. IFN-λ administration during mid-pregnancy reduced ZIKV burden in maternal and fetal organs and alleviated placental injuries and fetal demise. In addition, prophylactic and therapeutic treatment of IFN-λ1 in a human trophoblast line, as well as in primary human amniotic epithelial cells, greatly reduced the ZIKV burden. Our data highlight IFN-λ1 as a potential therapeutic useful for women at risk for congenital Zika disease.

  4. Nutrition in neonatal congenital heart disease

    Directory of Open Access Journals (Sweden)

    Morgan CT

    2013-09-01

    Full Text Available Conall T Morgan,1 Anne Marie Shine,2 Colin J McMahon1 1Department of Pediatric Cardiology, 2Department of Clinical Nutrition and Dietetics, Our Lady's Children's Hospital Crumlin, Dublin, Republic of Ireland Abstract: There are 40,000 infants born in the USA with congenital heart disease annually. Achievement of adequate oral nutrition is difficult in this population. Malnutrition is common. Single ventricle physiology, the risk of necrotizing enterocolitis, and cardiopulmonary bypass prevent the establishment of normal oral feeding patterns. Improved nutrition results in improved surgical outcomes, lower mortality, and shorter hospital stay. In this review, we discuss the challenges this population faces. Keywords: necrotizing enterocolitis, malnutrition, growth failure, hypoplastic left heart

  5. Postoperative evaluation of surgical procedures in congenital heart disease with MR imaging

    International Nuclear Information System (INIS)

    Seelos, K.C.; Kersting-Sommerhoff, B.; Higgins, C.B.

    1989-01-01

    This paper reports on a study in which electrocardiographically gated spin-echo MR imaging was used to evaluate 23 patients with congenital heart disease who had undergone Waterston (n = 3), Potts (n = 2), Senning (n = 3), Fontan (n = 3), Rastelli (n = 4), Damus (n = 1) and Jatene (n = 7) procedures. Surgical shunts, conduits, or baffles were identified correctly in all patients. Patency, atresia and hypoplasia of central pulmonary arteries (PAs) as well as postoperative complications (focal stenosis of PAs, thrombosed pseudoaneurysm, intramural abscess) were diagnosed. MR findings were corroborated with angiography, echocardiography, and surgery. Narrowing of the right ventricular outflow tract and focal compression of the proximal PAs were recognized as specific complications of the Jatene procedure. MR imaging appears to be effective for the postoperative evaluation of surgical procedures used for congenital heart disease

  6. Illness Identity: A Novel Predictor for Healthcare Use in Adults With Congenital Heart Disease.

    Science.gov (United States)

    Van Bulck, Liesbet; Goossens, Eva; Luyckx, Koen; Oris, Leen; Apers, Silke; Moons, Philip

    2018-05-22

    To optimize healthcare use of adults with congenital heart disease, all important predictors of healthcare utilization should be identified. Clinical and psychological characteristics (eg, age and depression) have been found to be associated with healthcare use. However, the concept of illness identity, which assesses the degree to which congenital heart disease is integrated into one's identity, has not yet been investigated in association with healthcare use. Hence, the purpose of the study is to examine the predictive value of illness identity for healthcare use. In this ambispective analytical observational cohort study, 216 adults with congenital heart disease were included. The self-reported Illness Identity Questionnaire was used to assess illness identity states: engulfment, rejection, acceptance, and enrichment. After 1 year, self-reported healthcare use for congenital heart disease or other reasons over the past 6 months was assessed including hospitalizations; visits to general practitioner; visits to medical specialists; and emergency room visits. Binary logistic and negative binomial regression analyses were conducted, adjusting for age, sex, disease complexity, and depressive and anxious symptoms. The more profoundly the heart defect dominated one's identity (ie, engulfment), the more likely this person was to be hospitalized (odds ratio=3.76; 95% confidence interval=1.43-9.86), to visit a medical specialist (odds ratio=2.32; 95% confidence interval=1.35-4.00) or a general practitioner (odds ratio=1.78; 95% confidence interval=1.01-3.17), because of their heart defect. Illness identity, more specifically engulfment, has a unique predictive value for the occurrence of healthcare encounters. This association deserves further investigation, in which the directionality of effects and the contribution of illness identity in terms of preventing inappropriate healthcare use should be determined. © 2018 The Authors. Published on behalf of the American

  7. Menstrual cycle and its disorders in women with congenital heart disease

    NARCIS (Netherlands)

    Drenthen, Willem; Hoendermis, Elke S.; Moons, Philip; Heida, Karst Y.; Roos-Hesselink, Jolien W.; Mulder, Barbara J. M.; van Dijk, Arie P. J.; Vliegen, Hubert W.; Sollie, Krystyna M.; Berger, Rolf M. F.; Lely, A. Titia; Canobbio, Mary M.; Pieper, Petronella G.

    2008-01-01

    OBJECTIVES: To investigate the age at menarche, the prevalence of menstrual cycle (interval) disorders, and determinants in women with congenital heart disease (CHD). DESIGN: Using two CHD registries, 1802 (82%) of the 2196 women with CHD contacted (aged 18-58 years) provided written informed

  8. Menstrual cycle and its disorders in women with congenital heart disease.

    NARCIS (Netherlands)

    Drenthen, W.; Hoendermis, E.S.; Moons, P.; Heida, K.Y.; Roos-Hesselink, J.W.; Mulder, B.J.M.; Dijk, A.P.J. van; Vliegen, H.W.; Sollie, K.M.; Berger, R.M.; Lely, A.T.; Canobbio, M.M.; Pieper, P.G.

    2008-01-01

    OBJECTIVES: To investigate the age at menarche, the prevalence of menstrual cycle (interval) disorders, and determinants in women with congenital heart disease (CHD). DESIGN: Using two CHD registries, 1802 (82%) of the 2196 women with CHD contacted (aged 18-58 years) provided written informed

  9. Mental Health Problems in Parents of Children with Congenital Heart Disease

    NARCIS (Netherlands)

    Kolaitis, Gerasimos A.; Meentken, Maya G.; Utens, Elisabeth M. W. J.

    2017-01-01

    This review will provide a concise description of mental health problems in parents of children with a (non-syndromic) congenital heart disease (CHD) during different stressful periods. Predictors of these problems and also implications for clinical practice will be mentioned. Having a child with

  10. The value of flat-detector computed tomography during catheterisation of congenital heart disease

    International Nuclear Information System (INIS)

    Gloeckler, Martin; Koch, Andreas; Greim, Verena; Shabaiek, Amira; Dittrich, Sven; Rueffer, Andre; Cesnjevar, Robert; Achenbach, Stephan

    2011-01-01

    To analyse the diagnostic utility of flat-detector computed tomography imaging (FD-CT) in patients with congenital heart disease, including the value of image fusion to overlay three-dimensional (3D) reconstructions on fluoroscopic images during catheter-based interventions. We retrospectively analysed 62 consecutive paediatric patients in whom FD-CT was used during catheterisation of congenital heart disease. Expert operators rated the clinical value of FD-CT over conventional fluoroscopic imaging. Added radiation exposure and contrast medium volume were evaluated. During a 12-month period, FD-CT was performed in 62 out of 303 cardiac catheterisations. Median patient age was 3.5 years. In 32/62 cases, FD-CT was used for diagnostic purposes, in 30/62 cases it was used in the context of interventions. Diagnostic utility was never rated as ''misleading''. It was classified as ''not useful'' in six cases (9.7%), ''useful'' in 18 cases (29.0%), ''very useful'' in 37 cases (59.7%) and ''essential'' in one case (1.6%). The median added dose-area product was 111.0 μGym 2 , the required additional quantity of contrast medium was 1.6 ml/kg. FD-CT provides useful diagnostic information in most of the patients investigated for congenital heart disease. The added radiation exposure and contrast medium volume are reasonable. (orig.)

  11. Coronary artery anomalies and clinically important anatomy in patients with congenital heart disease: multislice CT findings

    International Nuclear Information System (INIS)

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

    2009-01-01

    In patients with congenital heart disease, coronary artery anomalies are common and have different clinical importance from individuals with structurally normal hearts. Visibility of the coronary arteries by CT has markedly improved due to high temporal resolution and ECG-synchronized data acquisition. In this article we describe current multislice CT techniques for coronary artery imaging and illustrate coronary artery anomalies and clinically important coronary artery anatomy from the point of view of congenital heart disease. (orig.)

  12. Coronary artery anomalies and clinically important anatomy in patients with congenital heart disease: multislice CT findings

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo [University of Ulsan College of Medicine, Department of Radiology and Research Institute of Radiology, Asan Medical Center, Seoul (Korea); Seo, Dong-Man; Yun, Tae-Jin; Park, Jeong-Jun [University of Ulsan College of Medicine, Department of Pediatric Cardiac Surgery, Asan Medical Center, Seoul (Korea); Park, In-Sook; Ko, Jae Kon; Kim, Young Hwee [University of Ulsan College of Medicine, Department of Pediatric Cardiology, Asan Medical Center, Seoul (Korea)

    2009-03-15

    In patients with congenital heart disease, coronary artery anomalies are common and have different clinical importance from individuals with structurally normal hearts. Visibility of the coronary arteries by CT has markedly improved due to high temporal resolution and ECG-synchronized data acquisition. In this article we describe current multislice CT techniques for coronary artery imaging and illustrate coronary artery anomalies and clinically important coronary artery anatomy from the point of view of congenital heart disease. (orig.)

  13. 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.

  14. Evaluation of the grading and disorder assessment of congenital heart disease with pulmonary arterial hypertension

    International Nuclear Information System (INIS)

    Ding Zhongru; Qin Yongwen

    2008-01-01

    Pulmonary arterial hypertension is one of the most common and serious complications in congenital heart disease. Identification of whether the pulmonary, arterial hypertension is dynamic or resistance remains as the great importance for deciding to transfer for surgery, intervention or conservative therapy and directly concerning with the prognosis and choice of treatment. This review mainly deals with the problems such as grading, staging, pathophysiology and the correlative mechanism with clinical assessment of pulmonary. arterial hypertension in congenital heart disease and furthermore providing comprehensive informations for clinical diagnosis and treatment. (authors)

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

    Science.gov (United States)

    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).

  16. Lessons learned from study of congenital hip disease in adults.

    Science.gov (United States)

    Hartofilakidis, George; Lampropoulou-Adamidou, Kalliopi

    2016-12-18

    Orthopaedic surgeons specialising in adult hip reconstruction surgery often face the problem of osteoarthritis secondary to congenital hip disease (CHD). To achieve better communication among physicians, better treatment planning and evaluation of the results of various treatment options, an agreed terminology is needed to describe the entire pathology. Furthermore, a generally accepted classification of the deformities is necessary. Herein, the authors propose the use of the term "congenital hip disease" and its classification as dysplasia, low dislocation and high dislocation. Knowledge of the CHD natural history facilitates comprehension of the potential development and progression of the disease, which differs among the aforementioned types. This can lead to better understanding of the anatomical abnormalities found in the different CHD types and thus facilitate preoperative planning and choice of the most appropriate management for adult patients. The basic principles for improved results of total hip replacement in patients with CHD, especially those with low and high dislocation, are: Wide exposure, restoration of the normal centre of rotation and the use of special techniques and implants for the reconstruction of the acetabulum and femur. Application of these principles during total hip replacement in young female patients born with severe deformities of the hip joint has led to radical improvement of their quality of life.

  17. Imaging of congenital heart disease in adults: choice of modalities.

    Science.gov (United States)

    Orwat, Stefan; Diller, Gerhard-Paul; Baumgartner, Helmut

    2014-01-01

    Major advances in noninvasive imaging of adult congenital heart disease have been accomplished. These tools play now a key role in comprehensive diagnostic work-up, decision for intervention, evaluation for the suitability of specific therapeutic options, monitoring of interventions and regular follow-up. Besides echocardiography, magnetic resonance (CMR) and computed tomography (CT) have gained particular importance. The choice of imaging modality has thus become a critical issue. This review summarizes strengths and limitations of the different imaging modalities and how they may be used in a complementary fashion. Echocardiography obviously remains the workhorse of imaging routinely used in all patients. However, in complex disease and after surgery echocardiography alone frequently remains insufficient. CMR is particularly useful in this setting and allows reproducible and accurate quantification of ventricular function and comprehensive assessment of cardiac anatomy, aorta, pulmonary arteries and venous return including complex flow measurements. CT is preferred when CMR is contraindicated, when superior spatial resolution is required or when "metallic" artefacts limit CMR imaging. In conclusion, the use of currently available imaging modalities in adult congenital heart disease needs to be complementary. Echocardiography remains the basis tool, CMR and CT should be added considering specific open questions and the ability to answer them, availability and economic issues.

  18. 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...

  19. Tachyarrhythmia in patients with congenital heart disease: inevitable destiny?

    Science.gov (United States)

    Teuwen, C P; Taverne, Y J H J; Houck, C; Götte, M; Brundel, B J J M; Evertz, R; Witsenburg, M; Roos-Hesselink, J W; Bogers, A J J C; de Groot, N M S

    2016-03-01

    The prevalence of patients with congenital heart disease (CHD) has increased over the last century. As a result, the number of CHD patients presenting with late, postoperative tachyarrhythmias has increased as well. The aim of this review is to discuss the present knowledge on the mechanisms underlying both atrial and ventricular tachyarrhythmia in patients with CHD and the advantages and disadvantages of the currently available invasive treatment modalities.

  20. [Congenital cardiopathy and cerebral abscess].

    Science.gov (United States)

    Paixão, A; de Andrade, F F; Sampayo, F

    1989-01-01

    During 1986 the authors came across two cases of brain abscess among children with congenital heart disease followed at the Pediatric Cardiology Service and decided to evaluate their global experience on the subject. In a retrospective study of 860 infants and children with cyanotic congenital heart disease and final diagnosis, there were four cases complicated with brain abscess. The following items were evaluated: prevalence of the complication, type of congenital heart disease, date and age at the diagnosis of brain abscess, diagnostic methods, neurosurgical treatment and results. The main findings were: all patients were above two years of age and had noncorrected cyanotic congenital heart disease belonging to the classic high risk group; the first two cases had been treated in other institutions and only scanty information was available; two recent cases had early diagnosis on CAT scan followed by neurosurgical treatment. All children survived. brain abscess is a rare but severe complication occurring in patients with noncorrected cyanotic congenital heart disease above two years of age; whenever prevention turns impossible, early diagnosis and treatment provide good short term and long term results. A multidisciplinar approach with full cooperation is advocated.

  1. Adult congenital heart disease imaging with second-generation dual-source computed tomography: initial experiences and findings.

    Science.gov (United States)

    Ghoshhajra, Brian B; Sidhu, Manavjot S; El-Sherief, Ahmed; Rojas, Carlos; Yeh, Doreen Defaria; Engel, Leif-Christopher; Liberthson, Richard; Abbara, Suhny; Bhatt, Ami

    2012-01-01

    Adult congenital heart disease patients present a unique challenge to the cardiac imager. Patients may present with both acute and chronic manifestations of their complex congenital heart disease and also require surveillance for sequelae of their medical and surgical interventions. Multimodality imaging is often required to clarify their anatomy and physiology. Radiation dose is of particular concern in these patients with lifelong imaging needs for their chronic disease. The second-generation dual-source scanner is a recently available advanced clinical cardiac computed tomography (CT) scanner. It offers a combination of the high-spatial resolution of modern CT, the high-temporal resolution of dual-source technology, and the wide z-axis coverage of modern cone-beam geometry CT scanners. These advances in technology allow novel protocols that markedly reduce scan time, significantly reduce radiation exposure, and expand the physiologic imaging capabilities of cardiac CT. We present a case series of complicated adult congenital heart disease patients imaged by the second-generation dual-source CT scanner with extremely low-radiation doses and excellent image quality. © 2012 Wiley Periodicals, Inc.

  2. [Neonatal tumours and congenital malformations].

    Science.gov (United States)

    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

  3. Adult Congenital Heart Disease with Pregnancy

    Science.gov (United States)

    2018-01-01

    The number of women with congenital heart disease (CHD) at risk of pregnancy is growing because over 90% of them are grown-up into adulthood. The outcome of pregnancy and delivery is favorable in most of them provided that functional class and systemic ventricular function are good. Women with CHD such as pulmonary hypertension (Eisenmenger syndrome), severe left ventricular outflow stenosis, cyanotic CHD, aortopathy, Fontan procedure and systemic right ventricle (complete transposition of the great arteries [TGA] after atrial switch, congenitally corrected TGA) carry a high-risk. Most frequent complications during pregnancy and delivery are heart failure, arrhythmias, bleeding or thrombosis, and rarely maternal death. Complications of fetus are prematurity, low birth weight, abortion, and stillbirth. Risk stratification of pregnancy and delivery relates to functional status of the patient and is lesion specific. Medication during pregnancy and post-delivery (breast feeding) is a big concern. Especially prescribing medication with teratogenicity should be avoidable. Adequate care during pregnancy, delivery, and the postpartum period requires a multidisciplinary team approach with cardiologists, obstetricians, anesthesiologists, neonatologists, nurses and other related disciplines. Caring for a baby is an important issue due to temporarily pregnancy-induced cardiac dysfunction, and therefore familial support is mandatory especially during peripartum and after delivery. Timely pre-pregnancy counseling should be offered to all women with CHD to prevent avoidable pregnancy-related risks. Successful pregnancy is feasible for most women with CHD at relatively low risk when appropriate counseling and optimal care are provided. PMID:29625509

  4. 3D-shaded surface rendering of gadolinium-enhanced MR angiography in congenital heart disease

    International Nuclear Information System (INIS)

    Okuda, S.; Kikinis, R.; Dumanli, H.; Geva, T.; Powell, A.J.; Chung, T.

    2000-01-01

    Background. Gadolinium-enhanced three-dimensional (3D) MR angiography is a useful imaging technique for patients with congenital heart disease. Objective. This study sought to determine the added value of creating 3D shaded surface displays compared to standard maximal intensity projection (MIP) and multiplanar reformatting (MPR) techniques when analyzing 3D MR angiography data. Materials and methods. Seventeen patients (range, 3 months to 51 years old) with a variety of congenital cardiovascular defects underwent gadolinium-enhanced 3D MR angiography of the thorax. Color-coded 3D shaded surface models were rendered from the image data using manual segmentation and computer-based algorithms. Models could be rotated, translocated, or zoomed interactively by the viewer. Information available from the 3D models was compared to analysis based on viewing standard MIP/MPR displays. Results. Median postprocessing time for the 3D models was 6 h (range, 3-25 h) compared to approximately 20 min for MIP/MPR viewing. No additional diagnostic information was gained from 3D model analysis. All major findings with MIP/MPR postprocessing were also apparent on the 3D models. Qualitatively, the 3D models were more easily interpreted and enabled adjacent vessels to be distinguished more readily. Conclusion. Routine use of 3D shaded surface reconstructions for visualization of contrast enhanced MR angiography in congenital heart disease cannot be recommended. 3D surface rendering may be more useful for presenting complex anatomy to an audience unfamiliar with congenital heart disease and as an educational tool. (orig.)

  5. A review of the economics of adult congenital heart disease.

    Science.gov (United States)

    Seckeler, Michael D; Thomas, Ian D; Andrews, Jennifer; Joiner, Keith; Klewer, Scott E

    2016-01-01

    Adults living with congenital heart disease (CHD) now outnumber children with the disease. Thanks to medical advances over the past 75 years, many of these fatal childhood heart problems have changed to chronic medical conditions. As the population of adults with CHD increases, they will require increasingly complex medical, surgical and catheter-based therapies. In addition, social burdens including education, employment and insurability, which increase the societal costs of adult CHD, are now being recognized for adults living with CHD. This review summarizes the available literature on the economics of adult CHD.

  6. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    2018-03-21

    Central Core Disease; Centronuclear Myopathy; Congenital Fiber Type Disproportion; Multiminicore Disease; Myotubular Myopathy; Nemaline Myopathy; Rigid Spine Muscular Dystrophy; Undefined Congenital Myopathy

  7. 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...

  8. 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.

  9. Nurse specialists in adult congenital heart disease: The current status in Europe

    NARCIS (Netherlands)

    Moons, P.; Scholte op Reimer, W.; De Geest, S.; Fridlund, B.; Heikkila, J.; Jaarsma, Trijntje (Tiny); Martensson, J.; Smith, K; Stewart, S.; Stromberg, A; Thompson, D.R.

    2006-01-01

    Aim: Recommendations for the management of adults with congenital heart disease indicate that specialist referral centres should employ nurse specialists who are trained and educated in the care for these patients. We surveyed the involvement, education and activities of nurse specialists in the

  10. 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)

  11. The importance of copy number variation in congenital heart disease

    Science.gov (United States)

    Costain, Gregory; Silversides, Candice K; Bassett, Anne S

    2016-01-01

    Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust evidence for these structural variants as genome-wide contributors to all forms of CHD, including CHD that appears isolated without extra-cardiac features. Overall, a CNV-related molecular diagnosis can be made in up to one in eight patients with CHD. These include de novo and inherited variants at established (chromosome 22q11.2), emerging (chromosome 1q21.1), and novel loci across the genome. Variable expression of rare CNVs provides support for the notion of a genetic spectrum of CHD that crosses traditional anatomic classification boundaries. Clinical genetic testing using genome-wide technologies (e.g., chromosomal microarray analysis) is increasingly employed in prenatal, paediatric and adult settings. CNV discoveries in CHD have translated to changes to clinical management, prognostication and genetic counselling. The convergence of findings at individual gene and at pathway levels is shedding light on the mechanisms that govern human cardiac morphogenesis. These clinical and research advances are helping to inform whole-genome sequencing, the next logical step in delineating the genetic architecture of CHD. PMID:28706735

  12. 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 ...

  13. Psychopathology in young adults with congenital heart disease. Follow-up results

    NARCIS (Netherlands)

    Utens, E. M.; Bieman, H. J.; Verhulst, F. C.; Meijboom, F. J.; Erdman, R. A.; Hess, J.

    1998-01-01

    The aim of the present study was to assess the occurrence of a wide range of behavioural and emotional problems long-term (> 9 years) after surgical correction for congenital heart disease in infancy and childhood. The problem scores on the Young Adult Self-Report of 166 19-25-year-old adults with

  14. Expression Analysis of Gata4, Tbx5 and Nkx2.5 Genes Involved in Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Mahta Mazaheri-Naeeini

    2016-04-01

    Full Text Available Background Congenital heart disease (CHD is the most widespread congenital disease in newborn babies and is one of the main causes of death worldwide. The causal agent of heart congenital diseases is unknown but genetic factors have an important role in prevalence of disease. Objectives The main objective of this research is comparison of the gene expression level of three Gata4, Tbx5 and Nkx2.5 genes in three groups of children between 6 months and 13 year old with congenital heart disease. Patients and Methods In this case-control study, 30 samples from each cyanotic and acyanotic patients and 30 samples from healthy children as control were used. RNA extraction was done using commercial kit and gene expression analysis was performed by qRT-PCR approach in three replication using Gata4, Tbx5 and Nkx2.5 genes. Data analysis was done by REST software. Results The results of RNA extraction and cDNA synthesis of all sample showed high quantity and quality of genetic materials. Expression level of tested genes was reduced in two patients group. In cyanotic group reduction was more than acyanotic samples. All tested gene were reduced in both group. Tbx5 gene was suppressed more than other genes. Conclusions Based on our results we could conclude that a gene family play an important role in cardiogenesis process and heart formation. These genes are closely related together. So a genetic consultation for such diseases on parents of these patients to determine the probable genetic mutations is recommended.

  15. Vaccine Mediated Protection Against Zika Virus-Induced Congenital Disease.

    Science.gov (United States)

    Richner, Justin M; Jagger, Brett W; Shan, Chao; Fontes, Camila R; Dowd, Kimberly A; Cao, Bin; Himansu, Sunny; Caine, Elizabeth A; Nunes, Bruno T D; Medeiros, Daniele B A; Muruato, Antonio E; Foreman, Bryant M; Luo, Huanle; Wang, Tian; Barrett, Alan D; Weaver, Scott C; Vasconcelos, Pedro F C; Rossi, Shannan L; Ciaramella, Giuseppe; Mysorekar, Indira U; Pierson, Theodore C; Shi, Pei-Yong; Diamond, Michael S

    2017-07-13

    The emergence of Zika virus (ZIKV) and its association with congenital malformations has prompted the rapid development of vaccines. Although efficacy with multiple viral vaccine platforms has been established in animals, no study has addressed protection during pregnancy. We tested in mice two vaccine platforms, a lipid nanoparticle-encapsulated modified mRNA vaccine encoding ZIKV prM and E genes and a live-attenuated ZIKV strain encoding an NS1 protein without glycosylation, for their ability to protect against transmission to the fetus. Vaccinated dams challenged with a heterologous ZIKV strain at embryo day 6 (E6) and evaluated at E13 showed markedly diminished levels of viral RNA in maternal, placental, and fetal tissues, which resulted in protection against placental damage and fetal demise. As modified mRNA and live-attenuated vaccine platforms can restrict in utero transmission of ZIKV in mice, their further development in humans to prevent congenital ZIKV syndrome is warranted. Copyright © 2017 Elsevier Inc. All rights reserved.

  16. Virtual cardiotomy based on 3-D MRI for preoperative planning in congenital heart disease

    International Nuclear Information System (INIS)

    Soerensen, Thomas Sangild; Beerbaum, Philipp; Razavi, Reza; Greil, Gerald Franz; Mosegaard, Jesper; Rasmusson, Allan; Schaeffter, Tobias; Austin, Conal

    2008-01-01

    Patient-specific preoperative planning in complex congenital heart disease may be greatly facilitated by virtual cardiotomy. Surgeons can perform an unlimited number of surgical incisions on a virtual 3-D reconstruction to evaluate the feasibility of different surgical strategies. To quantitatively evaluate the quality of the underlying imaging data and the accuracy of the corresponding segmentation, and to qualitatively evaluate the feasibility of virtual cardiotomy. A whole-heart MRI sequence was applied in 42 children with congenital heart disease (age 3±3 years, weight 13±9 kg, heart rate 96± 21 bpm). Image quality was graded 1-4 (diagnostic image quality ≥2) by two independent blinded observers. In patients with diagnostic image quality the segmentation quality was also graded 1-4 (4 no discrepancies, 1 misleading error). The average image quality score was 2.7 - sufficient for virtual reconstruction in 35 of 38 patients (92%) older than 1 month. Segmentation time was 59±10 min (average quality score 3.5). Virtual cardiotomy was performed in 19 patients. Accurate virtual reconstructions of patient-specific cardiac anatomy can be produced in less than 1 h from 3-D MRI. The presented work thus introduces a new, clinically feasible noninvasive technique for improved preoperative planning in complex cases of congenital heart disease. (orig.)

  17. Effects of eHealth physical activity encouragement in adolescents with complex congenital heart disease

    DEFF Research Database (Denmark)

    Klausen, Susanne Hwiid; Andersen, Lars L; Søndergaard, Lars

    2016-01-01

    OBJECTIVE: To assess benefit and harms of adding an eHealth intervention to health education and individual counseling in adolescents with congenital heart disease. DESIGN: Randomized clinical trial. SETTING: Denmark. PATIENTS: A total of 158 adolescents aged 13-16years with no physical activity...... restrictions after repaired complex congenital heart disease. INTERVENTIONS: PReVaiL consisted of individually tailored eHealth encouragement physical activity for 52weeks. All patients received 45min of group-based health education and 15min of individual counseling involving patients' parents. OUTCOMES......·kg(-1)·min(-1) (95% CI -2.66 to 1.36). Between-group differences at 1year in physical activity, generic health-related quality of life, and disease-specific quality of life were not statistically significant. CONCLUSIONS: Adding a tailored eHealth intervention to health education and individual...

  18. Adult congenital heart disease in Greece: Preliminary data from the CHALLENGE registry.

    Science.gov (United States)

    Giannakoulas, G; Vasiliadis, K; Frogoudaki, A; Ntellos, C; Tzifa, A; Brili, S; Manginas, A; Papaphylactou, M; Parcharidou, D; Kampouridis, N; Pitsis, A; Chamaidi, A; Kolios, M; Papadopoulos, G; Douras, A; Davlouros, P; Ntiloudi, D; Karvounis, H; Kalangos, A; Tsioufis, C; Rammos, S

    2017-10-15

    The majority of patients with congenital heart disease (CHD), nowadays, survives into adulthood and is faced with long-term complications. We aimed to study the basic demographic and clinical characteristics of adult patients with congenital heart disease (ACHD) in Greece. A registry named CHALLENGE (Adult Congenital Heart Disease Registry. A registry from Hellenic Cardiology Society) was initiated in January 2012. Patients with structural CHD older than 16years old were enrolled by 16 specialized centers nationwide. Out of a population of 2115 patients with ACHD, who have been registered, (mean age 38years (SD 16), 52% women), 47% were classified as suffering from mild, 37% from moderate and 15% from severe ACHD. Atrial septal defect (ASD) was the most prevalent diagnosis (33%). The vast majority of ACHD patients (92%) was asymptomatic or mildly symptomatic (NYHA class I/II). The most symptomatic patients were suffering from an ASD, most often the elderly or those under targeted therapy for pulmonary arterial hypertension. Elderly patients (>60years old) accounted for 12% of the ACHD population. Half of patients had undergone at least one open-heart surgery, while 39% were under cardiac medications (15% under antiarrhythmic drugs, 16% under anticoagulants, 16% under medications for heart failure and 4% under targeted therapy for pulmonary arterial hypertension). ACHD patients are an emerging patient population and national prospective registries such as CHALLENGE are of unique importance in order to identify the ongoing needs of these patients and match them with the appropriate resource allocation. Copyright © 2017 Elsevier B.V. All rights reserved.

  19. 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 ...

  20. The level of physical exercise is associated with self-reported health status (EQ-5D) in adults with congenital heart disease.

    Science.gov (United States)

    Sandberg, Camilla; Engström, Karl Gunnar; Dellborg, Mikael; Thilén, Ulf; Wadell, Karin; Johansson, Bengt

    2015-02-01

    The prognosis in adults with congenital aortic valve disease is usually favourable; nevertheless, a number of medical and social factors might hamper long-term prognosis and quality of life. With a focus on physical exercise level, data from the Swedish National Registry on Congenital Heart Disease (SWEDCON) were analysed and variables associated with health-related quality of life in adults with congenital aortic valve disease were identified. In this registry study, SWEDCON was searched for adult patients with isolated congenital aortic valve disease and valid EuroQol-5Dimensions health questionnaire (EQ-5D) data. This study identified 315 patients. The majority (n = 202, 64%) reported best possible health status (EQ-5D(index) = 1) whereas 113 (35%) reported some impairment (EQ-5D(index)  3 h/week was independently associated with best possible health status (EQ-5D(index) = 1; p = 0.013). Moreover presence of cardiovascular symptoms (p 3 h/week was, as a single variable, associated with best possible health status in adults with congenital aortic valve disease. In contrast, a number of medical and social factors are associated with worse self-reported health status. Among these, symptoms, smoking, and educational level are potential targets for modification and intervention. There is a need for studies investigating the effect of increased level of physical exercise in patients with congenital aortic valve disease. © The European Society of Cardiology 2013 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.

  1. Screening of congenital heart disease patients using multiplex ligation-dependent probe amplification

    DEFF Research Database (Denmark)

    Sørensen, Karina Meden; El-Segaier, Milad; Fernlund, Eva

    2012-01-01

    Recurrent copy number variants (CNVs) are found in a significant proportion of patients with congenital heart disease (CHD) and some of these CNVs are associated with other developmental defects. In some syndromic patients, CHD may be the first presenting symptom, thus screening of patients...

  2. Case Report: Emergency awake craniotomy for cerebral abscess in a patient with unrepaired cyanotic congenital heart disease [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Corinne D’Antico

    2016-10-01

    Full Text Available We report the case of a 39-year-old male with complex cyanotic congenital heart disease undergoing emergency craniotomy for a cerebral abscess. Maintenance of intraoperative hemodynamic stability and adequate tissue oxygenation during anesthesia may be challenging in patients with cyanotic congenital heart disease. In this case, we decided to perform the surgery as an awake craniotomy after interdisciplinary consensus. We discuss general aspects of anesthetic management during awake craniotomy and specific concerns in the perioperative care of patients with congenital heart disease.

  3. Case Report: Emergency awake craniotomy for cerebral abscess in a patient with unrepaired cyanotic congenital heart disease [version 2; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Corinne D’Antico

    2017-02-01

    Full Text Available We report the case of a 39-year-old male with complex cyanotic congenital heart disease undergoing emergency craniotomy for a cerebral abscess. Maintenance of intraoperative hemodynamic stability and adequate tissue oxygenation during anesthesia may be challenging in patients with cyanotic congenital heart disease. In this case, we decided to perform the surgery as an awake craniotomy after interdisciplinary consensus. We discuss general aspects of anesthetic management during awake craniotomy and specific concerns in the perioperative care of patients with congenital heart disease.

  4. Psychosocial functioning of young adults after surgical correction for congenital heart disease in childhood: a follow-up study

    NARCIS (Netherlands)

    Utens, E. M.; Verhulst, F. C.; Erdman, R. A.; Meijboom, F. J.; Duivenvoorden, H. J.; Bos, E.; Roelandt, J. R.; Hess, J.

    1994-01-01

    To investigate the long-term psychosocial outcome of congenital heart disease, the emotional, intellectual and social functioning of 288 (young) adult patients was assessed with standardized assessment procedures 9-23 years (mean follow-up interval: 16 years) after surgical correction for congenital

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

    Science.gov (United States)

    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

  6. 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.

  7. 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.

  8. Growth Status of Iranian Children with Hemodynamically Important Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Mohammad Dalili

    2011-02-01

    Full Text Available The relationship between congenital heart disease (CHD and growth retardation is well documented. We investigated the growth condition of Iranian children with several types of congenital heart disease (CHD and compared it with worldwide researches. Growth condition was investigated in 469 patients with important CHD aged from 1 month to 18 years. The patients were divided into two groups; infants (aged 12 months or less, and children (1-18 yrs of age. Children with hemodynamically unimportant small VSDs or small ASDs were not studied. Other exclusion criteria were prematurity, known genetic disorders and neurologic disease affecting growthd. All patients' cardiac diagnoses were made on the basis of clinical and laboratory examinations; including electrocardiography, echocardiography, cardiac catheterization, and angiography. Body weight and height of all patients were measured using conventional methods and compared with standard growth charts. In all patients body weights and heights were significantly lower than normal population. This difference was greater in the weight of female children. Other risk factors for growth failure were large left-to-right intracardiac shunts, pulmonary hypertension and cyanosis. Iranian children with CHD have growth failure somewhat different from other countries. Lower body weights of cyanotic patients and female children indicated that these patients need more nutritional and psychosocial attention.

  9. Patient-reported outcomes in adults with congenital heart disease: Inter-country variation, standard of living and healthcare system factors.

    Science.gov (United States)

    Moons, Philip; Kovacs, Adrienne H; Luyckx, Koen; Thomet, Corina; Budts, Werner; Enomoto, Junko; Sluman, Maayke A; Yang, Hsiao-Ling; Jackson, Jamie L; Khairy, Paul; Cook, Stephen C; Subramanyan, Raghavan; Alday, Luis; Eriksen, Katrine; Dellborg, Mikael; Berghammer, Malin; Johansson, Bengt; Mackie, Andrew S; Menahem, Samuel; Caruana, Maryanne; Veldtman, Gruschen; Soufi, Alexandra; Fernandes, Susan M; White, Kamila; Callus, Edward; Kutty, Shelby; Van Bulck, Liesbet; Apers, Silke

    2018-01-15

    Geographical differences in patient-reported outcomes (PROs) of adults with congenital heart disease (ConHD) have been observed, but are poorly understood. We aimed to: (1) investigate inter-country variation in PROs in adults with ConHD; (2) identify patient-related predictors of PROs; and (3) explore standard of living and healthcare system characteristics as predictors of PROs. Assessment of Patterns of Patient-Reported Outcomes in Adults with Congenital Heart disease - International Study (APPROACH-IS) was a cross-sectional, observational study, in which 4028 patients from 15 countries in 5 continents were enrolled. Self-report questionnaires were administered: patient-reported health (12-item Short Form Health Survey; EuroQOL-5D Visual Analog Scale); psychological functioning (Hospital Anxiety and Depression Scale); health behaviors (Health Behavior Scale-Congenital Heart Disease) and quality of life (Linear Analog Scale for quality of life; Satisfaction With Life Scale). A composite PRO score was calculated. Standard of living was expressed as Gross Domestic Product per capita and Human Development Index. Healthcare systems were operationalized as the total health expenditure per capita and the overall health system performance. Substantial inter-country variation in PROs was observed, with Switzerland having the highest composite PRO score (81.0) and India the lowest (71.3). Functional class, age, and unemployment status were patient-related factors that independently and consistently predicted PROs. Standard of living and healthcare system characteristics predicted PROs above and beyond patient characteristics. This international collaboration allowed us to determine that PROs in ConHD vary as a function of patient-related factors as well as the countries in which patients live. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. The value of flat-detector computed tomography during catheterisation of congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Gloeckler, Martin [University Hospital Erlangen, Department of Pediatric Cardiology, Erlangen (Germany); Friedrich-Alexander University Erlangen-Nuernberg, Department of Pediatric Cardiology, Erlangen (Germany); Koch, Andreas; Greim, Verena; Shabaiek, Amira; Dittrich, Sven [University Hospital Erlangen, Department of Pediatric Cardiology, Erlangen (Germany); Rueffer, Andre; Cesnjevar, Robert [University Hospital Erlangen, Department of Congenital Heart Surgery, Erlangen (Germany); Achenbach, Stephan [University Hospital Erlangen, Department of Cardiology, Erlangen (Germany)

    2011-12-15

    To analyse the diagnostic utility of flat-detector computed tomography imaging (FD-CT) in patients with congenital heart disease, including the value of image fusion to overlay three-dimensional (3D) reconstructions on fluoroscopic images during catheter-based interventions. We retrospectively analysed 62 consecutive paediatric patients in whom FD-CT was used during catheterisation of congenital heart disease. Expert operators rated the clinical value of FD-CT over conventional fluoroscopic imaging. Added radiation exposure and contrast medium volume were evaluated. During a 12-month period, FD-CT was performed in 62 out of 303 cardiac catheterisations. Median patient age was 3.5 years. In 32/62 cases, FD-CT was used for diagnostic purposes, in 30/62 cases it was used in the context of interventions. Diagnostic utility was never rated as ''misleading''. It was classified as ''not useful'' in six cases (9.7%), ''useful'' in 18 cases (29.0%), ''very useful'' in 37 cases (59.7%) and ''essential'' in one case (1.6%). The median added dose-area product was 111.0 {mu}Gym{sup 2}, the required additional quantity of contrast medium was 1.6 ml/kg. FD-CT provides useful diagnostic information in most of the patients investigated for congenital heart disease. The added radiation exposure and contrast medium volume are reasonable. (orig.)

  11. 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.

  12. Congenital syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-01-01

    Full Text Available Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher than the ones spent with a baby without this infection. The treatment is generally carried out with penicillin and must be extended to sexual partners. Inadequate or lack of treatment of congenital syphilis can result in miscarriage, premature birth, acute complications and other fetal sequelae. KEYWORDS: Congenital syphilis. Treponema pallidum. Vertical transmission.

  13. Psychosocial situation of parents of children with congenital heart disease

    OpenAIRE

    Lawoko, Stephen

    2005-01-01

    Background: Current knowledge of the psychosocial situation of parents of congenital heart disease children (PCCHD) should be interpreted with caution. Most studies may not be representative of the population in question, and tend to concentrate mainly on describing PCCHD's distress experiences. Little is known about determinants of PCCHD's psychosocial situation in general. Aims: The general aim of this thesis was to study the psychosocial situation of PCCHD relative to...

  14. Congenital obstructive posterior urethral membranes and recurrent urinary tract infection: a rare case of congenital hypertrophy of the verumontanum

    Directory of Open Access Journals (Sweden)

    Diana Bancin

    2015-03-01

    Full Text Available Congenital obstructive posterior urethral membranes (COPUM is a complex disease closely related to several pathological changes in kidney development and function, as a result of urinary reflux since in utero. This congenital anomaly of urinary tract potentially causes hydroureteronephrosis that is often associated with recurrent urinary tract infections and, ultimately, one of the most common causes of end-stage renal disease in children.1,2 Congenital hypertrophy of the verumontanum as part of COPUM is very rare. Only a few reports have been written on congenital hypertrophy of the vermontanum causing congenital obstructive uropathy.3-6

  15. Mobile health in adults with congenital heart disease: Current use and future needs

    NARCIS (Netherlands)

    Schuuring, M.J.; A. Backx (Ad); Zwart, R.; Veelenturf, A.H.; D. Robbers-Visser (Daniëlle); M. Groenink (Maarten); A. Abu-Hanna (Ameen); N. Bruining (Nico); M.P. Schijven; B.J.M. Mulder (Barbara); B.J. Bouma (Berto)

    2016-01-01

    textabstractObjective Many adults with congenital heart disease (CHD) are affected lifelong by cardiac events, particularly arrhythmias and heart failure. Despite the care provided, the cardiac event rate remains high. Mobile health (mHealth) brings opportunities to enhance daily monitoring and

  16. Prevalence of cerebral and pulmonary thrombosis in patients with cyanotic congenital heart disease

    DEFF Research Database (Denmark)

    Jensen, A S; Idorn, L; Thomsen, C

    2015-01-01

    BACKGROUND: Patients with cyanotic congenital heart disease (CCHD) have a high prevalence of thrombosis, the most frequently described locations being the cerebral and pulmonary vessels. The reported prevalence of both cerebral infarction and pulmonary thrombosis has been highly variable. The aim...

  17. Determining transition readiness in congenital heart disease: Assessing the utility of the Transition Readiness Questionnaire

    Science.gov (United States)

    The Transition Readiness Assessment Questionnaire (TRAQ) is a tool commonly used to assess transition readiness in adolescents with chronic diseases. It was previously validated in youth with special health care needs (YSHCN), but no patients with congenital heart disease (CHD) were included in the ...

  18. [Rare case of congenital cystic adenomatoid malformation associated with polycystic kidney disease].

    Science.gov (United States)

    Jabłoński, Janusz; Jankowski, Zbigniew; Sitkiewicz, Anna; Lewandowska, Małgorzata; Andrzejewska, Ewa

    2011-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare pulmonary abnormality that results from aberrant fetal lung development. It about 4-26% of cases it can be associated with other congenital abnormalities. We describe a case of congenital cystic adenomatoid malformation 2 associated with polycystic kidney disease. The association of these two congenital malformations is exceptional. Only four similar cases have been reported in the literature. A 2-year-old girl was referred to the Department of Paediatric Surgery and Oncology Medical University of Lodz with pneumonia and left pneumothorax. For three weeks prior to referral the patient was treated with antibiotics. Chest x-ray revealed hyperinflation of left upper lobe with mediastinal shift to right. Computer tomographic scan of the lung revealed multiple cyst in the left upper lobe, left-site pneumothorax and mediastinal shift to the right. The patient underwent thoracotomy. Intraoperatively, multiple cysts in the left upper lobe were found and left upper lobectomy was performed. Histologic study was compatible with type 2 congenital cystic adenomatoid malformation. Ultrasound examination showed multilocular cysts in both kidneys. The dimensions of the cysts were: MWR4. 54x45x45 mm and 25x21x24 mm on the left and right sides, respectively. Significant increase in cyst size on the left side was observed. Ten months after first hospitalization resection of the cystic lower pole of the left kidney was performed. The presence of even a single renal cyst in a child with CCAM is an indication for further follow up examinations.

  19. Congenital Diverticular Disease of the Entire Colon

    Directory of Open Access Journals (Sweden)

    A. Patel

    2013-01-01

    Full Text Available Congenital or true colonic diverticulosis is a rare condition typified by the preservation of the colonic wall architecture within the diverticular outpouching. Cases of multiple jejunal diverticula have been reported as well as cases of solitary giant diverticula of the colon. There have been no reports in the literature of pancolonic congenital diverticulosis.

  20. Congenital myopathy is caused by mutation of HACD1.

    Science.gov (United States)

    Muhammad, Emad; Reish, Orit; Ohno, Yusuke; Scheetz, Todd; Deluca, Adam; Searby, Charles; Regev, Miriam; Benyamini, Lilach; Fellig, Yakov; Kihara, Akio; Sheffield, Val C; Parvari, Ruti

    2013-12-20

    Congenital myopathies are heterogeneous inherited diseases of muscle characterized by a range of distinctive histologic abnormalities. We have studied a consanguineous family with congenital myopathy. Genome-wide linkage analysis and whole-exome sequencing identified a homozygous non-sense mutation in 3-hydroxyacyl-CoA dehydratase 1 (HACD1) in affected individuals. The mutation results in non-sense mediated decay of the HACD1 mRNA to 31% of control levels in patient muscle and completely abrogates the enzymatic activity of dehydration of 3-hydroxyacyl-CoA, the third step in the elongation of very long-chain fatty acids (VLCFAs). We describe clinical findings correlated with a deleterious mutation in a gene not previously known to be associated with congenital myopathy in humans. We suggest that the mutation in the HACD1 gene causes a reduction in the synthesis of VLCFAs, which are components of membrane lipids and participants in physiological processes, leading to congenital myopathy. These data indicate that HACD1 is necessary for muscle function.

  1. 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.

  2. 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.

  3. Profile of congenital heart disease and correlation to risk adjustment for surgery; an echocardiographic study

    International Nuclear Information System (INIS)

    Akhtar, K.; Ahmed, W.

    2008-01-01

    To determine the pattern and profile of Congenital Heart Diseases (CHD) in paediatric patients (age 1 day to 18 years) presenting to a paediatric tertiary referral centre and its correlation to risk adjustment for surgery for congenital heart disease. Over a period of 6 months, 1149 cases underwent 2-D echocardiography. It was a non-probability purposive sampling. This study showed 25% of all referrals had normal hearts. A male preponderance (38%) was observed from 1 year to 5 years age group. Nineteen percent of the cases were categorized as cyanotic CHD with the remaining as acyanotic variety. Tetralogy of Fallot (TOF) represented 10%, Ventricular Septal Defects (VSD) 24%, followed by Patent Ductus Arteriosus (PDA) and Atrial Septal Defect (ASD), which comprised 6.6% and 6.5% respectively. VSD was the most common association in patients with more complex CHD (10%) followed by PDA in 3% and ASD in 1.2% of the cases. Most of the cases were category 2 in the RACHS-1 scoring system. VSD and TOF formed the major groups of cases profiled. Most of the cases recommended for surgery for congenital heart disease belonged to the risk category 2 (28.1%) followed by the risk category 1 (12.7%) of the RACHS-1 scoring system. (author)

  4. Identification of a Divergent Lineage Porcine Pestivirus in Nursing Piglets with Congenital Tremors and Reproduction of Disease following Experimental Inoculation.

    Science.gov (United States)

    Arruda, Bailey L; Arruda, Paulo H; Magstadt, Drew R; Schwartz, Kent J; Dohlman, Tyler; Schleining, Jennifer A; Patterson, Abby R; Visek, Callie A; Victoria, Joseph G

    2016-01-01

    Congenital tremors is a sporadic disease of neonatal pigs characterized by action-related repetitive myoclonus. A majority of outbreaks of congenital tremors have been attributed to an unidentified virus. The objectives of this project were to 1) detect potential pathogen(s) in samples from piglets with congenital tremors and 2) develop an infection model to reproduce disease. Using next-generation sequencing, a divergent lineage pestivirus was detected in piglets with congenital tremors. The virus was originally most closely related to a bat pestivirus but is now more closely related to a recently published novel porcine pestivirus provisionally named atypical porcine pestivirus. A quantitative real-time PCR detected the virus in samples from neonatal piglets with congenital tremors from two separate farms, but not in samples from unaffected piglets from the same farm. To fulfill the second objective, pregnant sows were inoculated with either serum containing the pestivirus or PBS (control) by intravenous and intranasal routes simultaneously with direct inoculation of fetal amniotic vesicles by ultrasound-guided surgical technique. Inoculations were performed at either 45 or 62 days of gestation. All sows inoculated with the novel pestivirus farrowed piglets affected with congenital tremors while PBS-inoculated control piglets were unaffected. Tremor severity for each piglet was scored from videos taken 0, 1 and 2 days post-farrowing. Tremor severity remained relatively constant from 0 to 2 days post-farrowing for a majority of piglets. The prevalence of congenital tremors in pestivirus-inoculated litters ranged from 57% (4 out of 7 affected piglets) to 100% (10 out of 10 affected piglets). The virus was consistently detected by PCR in tissues from piglets with congenital tremors but was not detected in control piglets. Samples positive by PCR in greater than 90% of piglets sampled included brainstem (37 out of 41), mesenteric lymph node (37 out of 41

  5. Identification of a Divergent Lineage Porcine Pestivirus in Nursing Piglets with Congenital Tremors and Reproduction of Disease following Experimental Inoculation.

    Directory of Open Access Journals (Sweden)

    Bailey L Arruda

    Full Text Available Congenital tremors is a sporadic disease of neonatal pigs characterized by action-related repetitive myoclonus. A majority of outbreaks of congenital tremors have been attributed to an unidentified virus. The objectives of this project were to 1 detect potential pathogen(s in samples from piglets with congenital tremors and 2 develop an infection model to reproduce disease. Using next-generation sequencing, a divergent lineage pestivirus was detected in piglets with congenital tremors. The virus was originally most closely related to a bat pestivirus but is now more closely related to a recently published novel porcine pestivirus provisionally named atypical porcine pestivirus. A quantitative real-time PCR detected the virus in samples from neonatal piglets with congenital tremors from two separate farms, but not in samples from unaffected piglets from the same farm. To fulfill the second objective, pregnant sows were inoculated with either serum containing the pestivirus or PBS (control by intravenous and intranasal routes simultaneously with direct inoculation of fetal amniotic vesicles by ultrasound-guided surgical technique. Inoculations were performed at either 45 or 62 days of gestation. All sows inoculated with the novel pestivirus farrowed piglets affected with congenital tremors while PBS-inoculated control piglets were unaffected. Tremor severity for each piglet was scored from videos taken 0, 1 and 2 days post-farrowing. Tremor severity remained relatively constant from 0 to 2 days post-farrowing for a majority of piglets. The prevalence of congenital tremors in pestivirus-inoculated litters ranged from 57% (4 out of 7 affected piglets to 100% (10 out of 10 affected piglets. The virus was consistently detected by PCR in tissues from piglets with congenital tremors but was not detected in control piglets. Samples positive by PCR in greater than 90% of piglets sampled included brainstem (37 out of 41, mesenteric lymph node (37 out of 41

  6. Association of US State Implementation of Newborn Screening Policies for Critical Congenital Heart Disease With Early Infant Cardiac Deaths.

    Science.gov (United States)

    Abouk, Rahi; Grosse, Scott D; Ailes, Elizabeth C; Oster, Matthew E

    2017-12-05

    In 2011, critical congenital heart disease was added to the US Recommended Uniform Screening Panel for newborns, but whether state implementation of screening policies has been associated with infant death rates is unknown. To assess whether there was an association between implementation of state newborn screening policies for critical congenital heart disease and infant death rates. Observational study with group-level analyses. A difference-in-differences analysis was conducted using the National Center for Health Statistics' period linked birth/infant death data set files for 2007-2013 for 26 546 503 US births through June 30, 2013, aggregated by month and state of birth. State policies were classified as mandatory or nonmandatory (including voluntary policies and mandates that were not yet implemented). As of June 1, 2013, 8 states had implemented mandatory screening policies, 5 states had voluntary screening policies, and 9 states had adopted but not yet implemented mandates. Numbers of early infant deaths (between 24 hours and 6 months of age) coded for critical congenital heart disease or other/unspecified congenital cardiac causes for each state-month birth cohort. Between 2007 and 2013, there were 2734 deaths due to critical congenital heart disease and 3967 deaths due to other/unspecified causes. Critical congenital heart disease death rates in states with mandatory screening policies were 8.0 (95% CI, 5.4-10.6) per 100 000 births (n = 37) in 2007 and 6.4 (95% CI, 2.9-9.9) per 100 000 births (n = 13) in 2013 (for births by the end of July); for other/unspecified cardiac causes, death rates were 11.7 (95% CI, 8.6-14.8) per 100 000 births in 2007 (n = 54) and 10.3 (95% CI, 5.9-14.8) per 100 000 births (n = 21) in 2013. Early infant deaths from critical congenital heart disease through December 31, 2013, decreased by 33.4% (95% CI, 10.6%-50.3%), with an absolute decline of 3.9 (95% CI, 3.6-4.1) deaths per 100 000 births after

  7. Treatment of Children with Protein – Losing Enteropathy After Fontan and Other Complex Congenital Heart Disease Procedures in Condition with Limited Human and Technical Resources

    OpenAIRE

    Bejiqi, Ramush; Retkoceri, Ragip; Zeka, Naim; Bejiqi, Hana; Vuqiterna, Armend; Maloku, Arlinda

    2014-01-01

    Background Protein-losing enteropathy (PLE) is a disorder characterized by abnormal and often profound enteric protein loss. It’s relatively uncommon complication of Fontan and other complex congenital heart disease (CCHD) procedures. Because of the complexity and rarity of this disease process, the pathogenesis and pathophysiology of protein-losing enteropathy remain poorly understood, and attempts at treatment seldom yield long-term success. Aim of presentation is to describe single centre ...

  8. 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 ...

  9. [The Relationships among Perceived Parental Bonding, Illness Perception, and Anxiety in Adult Patients with Congenital Heart Diseases].

    Science.gov (United States)

    Shin, Nayeon; Jang, Youha; Kang, Younhee

    2017-04-01

    The purposes of this study were to identify the relationships among perceived parental bonding, illness perception, and anxiety and to determine the influences of perceived parental bonding and illness perception on anxiety in adult patients with congenital heart diseases. In this study a descriptive correlational design with survey method was utilized. The participants were 143 adult patients with congenital heart disease being cared for in the cardiology out-patient clinic of A medical center. Data were collected using the Parental Bonding Instrument, Illness Perception Questionnaire Revised Scale, and Cardiac Anxiety Questionnaire Scale. Data were analyzed using descriptive statistics, independent t-test, one-way ANOVA, Pearson correlation analysis, and hierarchial regression analyses. There showed significant positive relationships of anxiety with maternal overprotection, consequences, and personal control respectively. Among predictors, maternal overprotection (β=.45), consequence (β=.26), and personal control (β=-.03) had statistically significant influence on anxiety. Nursing interventions to decrease maternal overprotection and negative consequence, and to enhance personal control are essential to decrease the anxiety of adult patients with congenital heart diseases. © 2017 Korean Society of Nursing Science

  10. Clinico-roentgenological atlas of congenital malformations in human limbs

    International Nuclear Information System (INIS)

    Luzina, E.V.; Shakirov, Eh.A.

    1990-01-01

    The objective of the present atlas is to familiarize a wide range of physicians with localizations of congenital malformations in human limbs which are little studied clinically and roentgenologically. The atlas illustrates different variants of malformations of upper and lower limbs systematized by nosological principle; multiple and some, rarely occuring system deformations of the skeleton. Malformation features are described and their names are presented in compliance with the international classification taking into account the vocabulary of medical terms. 102 refs.; 121 figs

  11. Early postoperative physical therapy for improving short-term gross motor outcome in infants with cyanotic and acyanotic congenital heart disease.

    Science.gov (United States)

    Haseba, Sumihito; Sakakima, Harutoshi; Nakao, Syuhei; Ohira, Misaki; Yanagi, Shigefumi; Imoto, Yutaka; Yoshida, Akira; Shimodozono, Megumi

    2018-07-01

    We analysed the gross motor recovery of infants and toddlers with cyanotic and acyanotic congenital heart disease (CHD) who received early postoperative physical therapy to see whether there was any difference in the duration to recovery. This study retrospectively evaluated the influence of early physical therapy on postoperative gross motor outcomes of patients with CHD. The gross motor ability of patients with cyanotic (n = 25, average age: 376.4 days) and acyanotic (n = 26, average age: 164.5 days) CHD was evaluated using our newly developed nine-grade mobility assessment scale. Physical therapy was started at an average of five days after surgery, during which each patient's gross motor ability was significantly decreased compared with the preoperative level. Patients (who received early postoperative physical therapy) with cyanotic (88.0%) and acyanotic CHD (96.2%) showed improved preoperative mobility grades by the time of hospital discharge. However, patients with cyanotic CHD had a significantly prolonged recovery period compared to those with acyanotic CHD (p congenital heart disease are likely at greater risk of gross motor delays and have a prolonged recovery period of gross motor ability compared to those with acyanotic congenital heart disease. Early postoperative physical therapy for patients with congenital heart disease after cardiac surgery promoted gross motor recovery. The postoperative recovery period to preoperative mobility grade was affected by pre-, intra-, and postoperative factors. Rehabilitation experts should consider the risk of gross motor delays of patients with congenital heart disease after cardiac surgery and the early postoperative physical therapy to promote their gross motor recovery.

  12. 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)

  13. Three-dimensional printing in congenital heart disease: A systematic review.

    Science.gov (United States)

    Lau, Ivan; Sun, Zhonghua

    2018-02-17

    Three-dimensional (3D) printing has shown great promise in medicine with increasing reports in congenital heart disease (CHD). This systematic review aims to analyse the main clinical applications and accuracy of 3D printing in CHD, as well as to provide an overview of the software tools, time and costs associated with the generation of 3D printed heart models. A search of different databases was conducted to identify studies investigating the application of 3D printing in CHD. Studies based on patient's medical imaging datasets were included for analysis, while reports on in vitro phantom or review articles were excluded from the analysis. A total of 28 studies met selection criteria for inclusion in the review. More than half of the studies were based on isolated case reports with inclusion of 1-12 cases (61%), while 10 studies (36%) focused on the survey of opinion on the usefulness of 3D printing by healthcare professionals, patients, parents of patients and medical students, and the remaining one involved a multicentre study about the clinical value of 3D printed models in surgical planning of CHD. The analysis shows that patient-specific 3D printed models accurately replicate complex cardiac anatomy, improve understanding and knowledge about congenital heart diseases and demonstrate value in preoperative planning and simulation of cardiac or interventional procedures, assist surgical decision-making and intra-operative orientation, and improve patient-doctor communication and medical education. The cost of 3D printing ranges from USD 55 to USD 810. This systematic review shows the usefulness of 3D printed models in congenital heart disease with applications ranging from accurate replication of complex cardiac anatomy and pathology to medical education, preoperative planning and simulation. The additional cost and time required to manufacture the 3D printed models represent the limitations which need to be addressed in future studies. © 2018 The Authors

  14. 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.

  15. Embolization of Uterine Arteriovenous Malformations Associated with Cyanotic Congenital Heart Disease

    International Nuclear Information System (INIS)

    Wijesekera, N. T.; Padley, S. P.; Kazmi, F.; Davies, C. L.; McCall, J. M.

    2009-01-01

    Uterine arteriovenous malformation (AVM) is a rare cause of vaginal bleeding and miscarriage. We report two cases of uterine AVMs in patients with a history of complex congenital heart disease, an association that has not been previously described. Both patients were treated by selective uterine artery embolization, a minimally invasive therapy that has revolutionized the management of uterine AVMs, thus offering an alternative to conventional hysterectomy.

  16. Congenital and inherited neurologic diseases in dogs and cats: Legislation and its effect on purchase in Italy

    Directory of Open Access Journals (Sweden)

    Annamaria Passantino

    2016-05-01

    Full Text Available Many of the congenital neurologic diseases can result in incapacity or death of the animal. Some of them, such as idiopathic epilepsy and hydrocephalus, exhibit breed or familial predisposition and a genetic basis was proved or suggested. Some diseases can be presumptively diagnosed after a detailed signalment (breed predisposition, history (e.g. family history because many of these defects have familial tendencies, and through physical exam; other diagnostic methods (radiography, computed tomography, magnetic resonance, electrophysiologic tests, etc. can provide supportive evidence for the congenital defect and help to confirm the diagnosis. Some cases can lead to civil law-suits when the lesions are congenital, but not easily recognizable, or when the lesions are hereditary but tend to became manifest only after some time (more than 12 months after the date of purchase, e.g., after the vice-free guarantee period has expired. Moreover, quite frequently an early diagnosis is not made because there are delays in consulting the veterinarian or the general practitioner veterinarian does not perceive subtle signs. This study was designed to focus on the medico-legal aspects concerning the buying and selling in Italy of dogs and cats affected by congenital and hereditary neurologic diseases that could constitute vice in these animals. While adequate provisions to regulate in detail the various aspects of pet sale have still to be drawn up by legislators, it may be helpful to involve breeders, by obliging them by contract to extend guarantees in the case of hereditary lesions, including neurologic diseases.

  17. Structural and congenital heart disease interventions: the role of three-dimensional printing.

    Science.gov (United States)

    Meier, L M; Meineri, M; Qua Hiansen, J; Horlick, E M

    2017-02-01

    Advances in catheter-based interventions in structural and congenital heart disease have mandated an increased demand for three-dimensional (3D) visualisation of complex cardiac anatomy. Despite progress in 3D imaging modalities, the pre- and periprocedural visualisation of spatial anatomy is relegated to two-dimensional flat screen representations. 3D printing is an evolving technology based on the concept of additive manufacturing, where computerised digital surface renders are converted into physical models. Printed models replicate complex structures in tangible forms that cardiovascular physicians and surgeons can use for education, preprocedural planning and device testing. In this review we discuss the different steps of the 3D printing process, which include image acquisition, segmentation, printing methods and materials. We also examine the expanded applications of 3D printing in the catheter-based treatment of adult patients with structural and congenital heart disease while highlighting the current limitations of this technology in terms of segmentation, model accuracy and dynamic capabilities. Furthermore, we provide information on the resources needed to establish a hospital-based 3D printing laboratory.

  18. Neonatal screening for treatable congenital disorders

    International Nuclear Information System (INIS)

    Charoensiriwatana, W.; Janejai, N.; Boonwanich, W.; Krasao, P.; Waiyasilp, S.

    2001-01-01

    Congenital hypothyroidism is a treatable disease if detected at the early stage of life. It is one of the most frequent cause of mental retardation in children. In 85 % of cases, congenital hypothyroidism is a consequence of thyroid disgenesis, in which the gland is either absent, located ectopically and/or severely reduced in size. Early detection and treatment with thyroid hormone supplement can significantly reduce mental damage. In 1996, Thailand initiated a neonatal screening programme for congenital hypothyroidism (CHT) and phenylketonuria (PKU), with the objective of bringing a better quality of life to people throughout the country, but especially in the remote areas. The programme involves implementing routine screening nationwide. The plan of action was designed with the goal of having public health service units throughout the country provide neonatal screening by year 2002 for the 1.2 million babies born per annum in Thailand. The government supported the programme by allocating a five-year budget of approximately US$15 million. The programme received additional assistance through technical support and human resource development from the International Atomic Energy Agency (IAEA) and the US Centers for Disease Control. This assistance promoted self-sustainability and strengthened the programme's technical base. The programme is on track. It is expected that by year 2002 all new born babies in Thailand will be screened for CHT and PKU

  19. Antenatal risk factors for symptomatic congenital CMV disease following primary maternal CMV infection.

    Science.gov (United States)

    Hadar, Eran; Salzer, Liat; Dorfman, Elizabeta; Amir, Jacob; Pardo, Joseph

    2016-04-01

    This study aimed to evaluate antenatal risk factors associated with symptomatic congenital cytomegalovirus (CMV) disease, following in utero vertical infection. This study included a retrospective cohort of 155 neonates with congenital CMV infection, following primary maternal CMV infection during pregnancy, and were divided to symptomatic (n=95) and asymptomatic (n=60) newborns. Young maternal age (29.1±5.12 vs. 31.6±5.36 years, P=0.005), high risk occupation for viral exposure (20.0% vs. 11.7%, P=0.04), CMV IgG seroconversion at diagnosis (83.1% vs. 63.3%, P=0.005) and abnormal fetal MRI (11.6% vs. 0%, P=0.003) were found to be prognostic risk factors associated with symptomatic CMV disease of the newborn. Maternal febrile illness at diagnosis, IgG avidity, US findings and the timing of maternal infection were not associated with the occurrence of neonatal symptoms. Knowledge of the reported risk factors may assist in counseling parents with intra uterine CMV infection.

  20. Risk Factors for Gross Motor Dysfunction in Infants with Congenital Heart Disease

    Science.gov (United States)

    Long, Suzanne H.; Eldridge, Bev J.; Galea, Mary P.; Harris, Susan R.

    2011-01-01

    Infants with congenital heart disease (CHD) that is severe enough to require early surgery are at risk for cognitive and motor delays, as well as musculoskeletal impairments, and are best managed by an interdisciplinary team during their hospital stay and after discharge. The purpose of this article is to review some of the risk factors associated…

  1. Mortality in pulmonary arterial hypertension due to congenital heart disease: Serial changes improve prognostication

    NARCIS (Netherlands)

    Schuijt, M.T.U.; Blok, I.M.; Zwinderman, A.H.; Riel, A. van; Schuuring, M.J.; Winter, R.J. de; Duijnhouwer, A.L.; Dijk, A.P.J. van; Mulder, B.J.; Bouma, B.J.

    2017-01-01

    BACKGROUND: Adult patients with pulmonary arterial hypertension due to congenital heart disease (PAH-CHD) suffer from high mortality. This underlines the importance of adequate risk stratification to guide treatment decisions. Several baseline parameters are associated with mortality, however, their

  2. Mortality in pulmonary arterial hypertension due to congenital heart disease: Serial changes improve prognostication

    NARCIS (Netherlands)

    Schuijt, M. T. U.; Blok, I. M.; Zwinderman, A. H.; van Riel, A. C. M. J.; Schuuring, M. J.; de Winter, R. J.; Duijnhouwer, A. L.; van Dijk, A. P. J.; Mulder, B. J. M.; Bouma, B. J.

    2017-01-01

    Background: Adult patients with pulmonary arterial hypertension due to congenital heart disease (PAH-CHD) suffer from high mortality. This underlines the importance of adequate risk stratification to guide treatment decisions. Several baseline parameters are associated with mortality, however, their

  3. Quality of Life of Adults With Congenital Heart Disease in 15 Countries: Evaluating Country-Specific Characteristics

    NARCIS (Netherlands)

    Apers, Silke; Kovacs, Adrienne H.; Luyckx, Koen; Thomet, Corina; Budts, Werner; Enomoto, Junko; Sluman, Maayke A.; Wang, Jou-Kou; Jackson, Jamie L.; Khairy, Paul; Cook, Stephen C.; Chidambarathanu, Shanthi; Alday, Luis; Eriksen, Katrine; Dellborg, Mikael; Berghammer, Malin; Mattsson, Eva; Mackie, Andrew S.; Menahem, Samuel; Caruana, Maryanne; Veldtman, Gruschen; Soufi, Alexandra; Romfh, Anitra W.; White, Kamila; Callus, Edward; Kutty, Shelby; Fieuws, Steffen; Moons, Philip

    2016-01-01

    Measuring quality of life (QOL) is fundamental to understanding the impact of disease and treatment on patients' lives. This study aimed to explore QOL in an international sample of adults with congenital heart disease (CHD), the association between patient characteristics and QOL, and international

  4. Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

    Directory of Open Access Journals (Sweden)

    L. Yu. Barycheva

    2015-01-01

    Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

  5. Congenital heart disease and rheumatic heart disease in Africa: recent advances and current priorities.

    Science.gov (United States)

    Zühlke, Liesl; Mirabel, Mariana; Marijon, Eloi

    2013-11-01

    Africa has one of the highest prevalence of heart diseases in children and young adults, including congenital heart disease (CHD) and rheumatic heart disease (RHD). We present here an extensive review of recent data from the African continent highlighting key studies and information regarding progress in CHD and RHD since 2005. Main findings include evidence that the CHD burden is underestimated mainly due to the poor outcome of African children with CHD. The interest in primary prevention for RHD has been recently re-emphasised, and new data are available regarding echocardiographic screening for subclinical RHD and initiation of secondary prevention. There is an urgent need for comprehensive service frameworks to improve access and level of care and services for patients, educational programmes to reinforce the importance of prevention and early diagnosis and a relevant research agenda focusing on the African context.

  6. 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.

  7. Key aspects congenital infection

    Directory of Open Access Journals (Sweden)

    Yu. V. Lobzin

    2014-01-01

    Full Text Available The key questions to solve the problem of congenital infection in the Russian Federation are: using in national practice over world accepted terminology adapted to the recommendations of the World Health Organization; representation of the modern concepts of an infectious process in the classification of congenital infections; scientific development and introducing in clinical practice the «standard case definitions», applied to different congenital infections; optimization of protocols and clinical guidelines for diagnosis, treatment and prevention of congenital infections; improvement a knowledge in the infectious disease for all  pecialists involved in the risk assessment of congenital infections, manage pregnancy and children. Based on our experience and analysis of publications, the authors suggest possible solutions.

  8. 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

  9. Polymicrogyria and Congenital Parvovirus B19 Infection

    Directory of Open Access Journals (Sweden)

    Grant S. Schulert

    2011-12-01

    Full Text Available Fetal parvovirus B19 infection causes anemia, hydrops, and pregnancy loss but is generally not considered teratogenic. Nevertheless, disturbances of neuronal migration have been described with congenital parvovirus infection. We evaluated a term infant with congenital parvovirus disease and polymicrogyria. We compared this case with four other reports of central nervous system disease after birth to parvovirus-infected mothers. After an extensive diagnostic evaluation, this infant was found to have congenital parvovirus disease with severe anemia and nonimmune hydrops as well as extensive polymicrogyria. Although rare, this report and literature review suggest that parvovirus B19 has the potential to disrupt normal neurodevelopment. We suggest that infants with severe congenital parvovirus infection have close developmental surveillance and if symptomatic undergo neuroimaging to assess for disorders of neuromigration.

  10. [Congenital intestinal lymphangiectasia].

    Science.gov (United States)

    Popović, Dugan D j; Spuran, Milan; Alempijević, Tamara; Krstić, Miodrag; Djuranović, Srdjan; Kovacević, Nada; Damnjanović, Svetozar; Micev, Marjan

    2011-03-01

    Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortuous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and supportive therapy. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  11. Challenges in the management of congenital heart disease in Vietnam: A single center experience

    International Nuclear Information System (INIS)

    Phuc, Vu Minh; Tin, Do Nguyen; Giang, Do Thi Cam

    2015-01-01

    Vietnam, in Asia, is a low middle-income country with a relatively large population to cater to. Not many know about Vietnam, or its healthcare sector especially the field of pediatric cardiology and congenital heart disease. In contrast to the developed world, congenital heart disease (CHD) is not diagnosed early. Since most of the patients visit the hospital only in later stages of the disease there are many complications during the operation and post-operatively. But during the past 5 years (from 2009), there has been major improvement in the treatment of CHD, both by intervention and surgery. At present, all kinds of CHD, both simple and complex are being successfully treated in our country. Today in Vietnam, all children under 6 years of age have health insurance coverage, under which almost all operations and catheter interventions are done free in government hospitals. It is helping many patients, especially those from the poor socioeconomic background. However, the present infrastructure is inadequate and a long waiting list has accumulated for treatment of CHD

  12. Development of an Online, Evidence-Based Patient Information Portal for Congenital Heart Disease: A Pilot Study

    Directory of Open Access Journals (Sweden)

    Jonathan R. G. Etnel

    2017-05-01

    Full Text Available ObjectivesIn response to an increased need for patient information on congenital heart disease in the Netherlands, we initiated a nationwide initiative to develop an online, evidence-based patient information portal, starting with a pilot project aimed at the subgroup of patients with congenital aortic and pulmonary valve disease.Methods and resultsWe developed an information portal that aims to (1 improve patient knowledge and involvement and to subsequently reduce anxiety and decisional conflict and improve mental quality of life and (2 to support physicians in informing and communicating with their patients. The information portal was developed according to the systematic International Patient Decision Aid Standards development process employing Delphi techniques by a multidisciplinary workgroup of pediatric and adult congenital cardiologists, a congenital cardiothoracic surgeon, a psychologist, an epidemiologist, a patient representative, and web and industrial design experts. First, patients and physicians were surveyed and interviewed to assess the current state of patient information and explore their preferences and needs to determine the focus for the development of the information portal. We found that patient knowledge and numeracy are limited, reliable information is scarce, physicians inform patients selectively and patient involvement is suboptimal, and there is a need for more reliable, tailored, and multi-faceted information. Based on the findings of these surveys and interviews, a patient-tailored information portal was designed that presents evidence-based disease- and age-specific medical and psychosocial information about diagnosis, treatment, prognosis, and impact on daily life in a manner that is comprehensible and digestible for patients and that meets the needs expressed by both patients and physicians. The effect of the website on patient outcome is currently being assessed in a multicenter stepped-wedge implementation

  13. Congenital abnormalities in Japanese patients with Menkes disease.

    Science.gov (United States)

    Gu, Yan-Hong; Kodama, Hiroko; Kato, Tadaaki

    2012-10-01

    Menkes disease (MNK) is an X-linked recessive disorder. Incidence of live-born infants with MNK is 2.8 per million live births in Japan. The aim of this study was to observe congenital malformations (CMs) in MNK patients. Subjects comprised 35 Japanese male patients with classical MNK who received copper histidine treatment. Patient clinical data were obtained anonymously from medical records or medical record summaries by pediatrician's retrospective review through a survey. We observed 21 different CMs in 14 patients. Eight of these had a single CM, while six had multiple CMs. The most frequent CM was higher arched palate with other CMs found in five patients. There was no relationship between CMs and mutations in the ATP7A gene. Using Mann-Whitney U tests, age at death was also significantly lower in MNK patients with CMs (Pheart disease, and one with microphallus. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

  14. The Impact of Obesity on Postoperative Outcomes in Adults with Congenital Heart Disease Undergoing Pulmonary Valve Replacement.

    Science.gov (United States)

    Buelow, Matthew W; Earing, Michael G; Hill, Garick D; Cohen, Scott B; Bartz, Peter J; Tweddell, James S; Ginde, Salil

    2015-01-01

    The impact of obesity on surgical morbidity in adults with congenital heart disease is currently unknown. The aim of our study was to investigate the impact of obesity on postoperative outcomes in adults with congenital heart disease undergoing reoperation for pulmonary valve replacement. A retrospective analysis was performed assessing the influence of obesity on surgical outcomes. Obesity was defined as a body mass index ≥30 kg/m2. The mean body mass index of the cohort was 25.9 ± 6.9 kg/m2 . The cohort included 71 patients with 17 patients (24%) being obese. There was no postoperative mortality. Obese patients had a longer hospital length of stay (6.6 vs. 4.7 days; P obesity was independently associated with hospital length of stay >5 days (odds ratio [OR] = 5.2; 95% confidence interval [CI]: 1.5-18.2, P = .01) and with increased postoperative arrhythmias (OR = 4.2; 95% CI: 1.7-40, P Obesity is associated with increased morbidity in adults with congenital heart disease undergoing pulmonary valve replacement, including longer hospitalization and higher risk for postoperative arrhythmias. © 2015 Wiley Periodicals, Inc.

  15. Are grown-ups with congenital heart disease willing to participate in an exercise program?

    NARCIS (Netherlands)

    Dontje, Manon L.; Feenstra, Marlies; de Greef, Mathieu; Nieuwland, Wybe; Hoendermis, Elke S.

    2013-01-01

    OBJECTIVE: To examine the willingness of grown-ups with congenital heart disease (GUCH) to participate in the GUCH Training Program-Individualised (GTI), an exercise program specifically designed for GUCH, and to identify factors affecting their willingness to participate. In this cross-sectional

  16. Understanding age-based transition needs: Perspectives from adolescents and adults with congenital heart disease

    Science.gov (United States)

    The purpose of this study was to explore the transition process in congenital heart disease (CHD) care through the perceived needs and concerns of adolescents (pretransition) and the experiential insight from adults (post-transition), in order to inform future transition initiatives and information ...

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

    Science.gov (United States)

    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.

  18. Oral health status of children with congenital heart disease and the awareness, attitude and knowledge of their parents.

    Science.gov (United States)

    Rai, Kavita; Supriya, S; Hegde, Amitha M

    2009-01-01

    The oral health status of children with congenital heart diseases and the parental awareness on maintaining good oral health and attitude towards preventive dental health measures were evaluated. A total of 170 children between the age group of 1-16 yrs belonging to both genders, with the history of congenital heart disease from Sree Chitra Tirunal Institute of Medical Science and Technology, Thiruvananthapuram and Narayana Hrudayalaya Institute of Medical Sciences, Bangalore were examined. Oral lesions and caries experience were recorded using modified WHO oral health assessment form. Oral hygiene of the children with congenital heart disease was found to be poor with tongue coating (50.6%), plaque (41.8%), calculus (35.3%), and caries (42.4%). Parental awareness on the importance of maintaining good oral hygiene, preventive dentistry, medicinal decay and its systemic effects has been found to be very poor. Dentistry should give priority to patients whose general health may be put at risk by poor dental health. Closer cooperation between Pediatrician, Pediatric Cardiologists and Pediatric Dentists could help improve dental care for these children.

  19. Congenital cytomegalovirus infection: disease burden and screening tools : towards newborn screening

    OpenAIRE

    Vries, Jutte Jacoba Catharina de

    2012-01-01

    Cytomegalovirus (CMV) infection is the most common congenital viral infection worldwide. The symptom of congenital CMV infection encountered most frequently is sensorineural hearing loss, which will affect approximately one out of five congenitally infected newborns. Because of the late-onset nature of the hearing loss, up to half of the children with congenital CMV-related hearing loss may not be detected in the newborn hearing screening. This thesis addresses several aspects of congenital CM...

  20. Congenital hypoventilation syndrome and Hirschsprung's disease - Haddad syndrome: A neonatal case presentation.

    Science.gov (United States)

    Jaiyeola, P; El-Metwally, D; Viscardi, R; Greene, C; Woo, H

    2015-01-01

    Congenital central hypoventilation syndrome (CCHS) is an uncommon cause of apnea in the newborn characterized by the occurrence of apnea predominantly during sleep. Haddad syndrome is CCHS with Hirschsprung's disease. We report a newborn with Haddad syndrome that had a family history of spinal muscular atrophy and discuss aspects of CCHS and important considerations in the evaluation of apnea in the term newborn.

  1. Congenitally transmitted visceral leishmaniasis: report of two brazilian human cases

    Directory of Open Access Journals (Sweden)

    Myrlena Regina Machado Mescouto-Borges

    2013-04-01

    Full Text Available Visceral leishmaniasis is a relevant public health problem worldwide. Most of the reported cases in Latin America are from Brazil. Herein we report two human cases of congenitally transmitted visceral leishmaniasis in two patients who developed symptoms during pregnancy. The diagnosis was made by visual examination of Leishmania parasites in bone marrow aspirates of the mothers and by detecting parasite kDNA in bone marrow samples of the newborn children using polymerase chain reaction.

  2. Employment characteristics of a complex adult congenital heart disease cohort.

    Science.gov (United States)

    Pickup, L; Gaffey, T; Clift, P; Bowater, S; Thorne, S; Hudsmith, L

    2017-08-01

    Due to advances in surgical techniques and subsequent management, there have been remarkable improvements in the survival of patients with congenital heart disease. In particular, larger numbers of patients with complex disease are now living into adulthood and are entering the workforce. To establish the types of employment complex adult congenital heart disease (ACHD) patients are engaged in, based on the largest cohort of patients with a single-ventricle circulation in the UK. Records of all patients with a univentricular (Fontan) circulation at the Queen Elizabeth Hospital were reviewed. Employment status was categorized according to the Standard Occupational Classification criteria (2010). A total of 210 patient records were reviewed. There was the same proportion of professionals in our cohort compared to the rest of the UK (20% versus 20%). There were greater proportions working in the caring, leisure and other service occupations (15% versus 9%), the elementary occupations (17% versus 11%), sales and customer service occupations (14% versus 8%) and administrative and secretarial occupations (12% versus 11%). The reverse trend was observed for associate professions and technical occupations (7% versus 14%), skilled trades (10% versus 11%), process, plant and machine operatives (3% versus 6%) and managers, directors and senior officials (2% versus 10%). The data show that ACHD patients with a single ventricle are engaged in a diverse range of occupations. It is essential that early education and employment advice are given to this cohort to maximize future employment potential. © The Author 2017. Published by Oxford University Press on behalf of the Society of Occupational Medicine. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  3. Congenital and perinatal cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Chun Soo Kim

    2010-01-01

    Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

  4. Gastric Duplication Cyst: A Rare Congenital Disease Often Misdiagnosed in Adults

    Directory of Open Access Journals (Sweden)

    Jessica Falleti

    2013-01-01

    Full Text Available Gastrointestinal duplication is a rare congenital disease which affected more commonly the ileum, while the stomach is rarely involved. Generally diagnosed in paediatric or young age, it could be difficult to suspect a gastrointestinal duplication in adults. Herein, we report a 55-year-old male with a gastric duplication cyst found on routinely checkup for chronic hepatitis and first misdiagnosed as a gastrointestinal stromal tumor (GIST; we also discuss its embryology.

  5. Adult Congenital Heart Disease Patients Experience Similar Symptoms of Disease Activity.

    Science.gov (United States)

    Cedars, Ari M; Stefanescu Schmidt, Ada; Broberg, Craig; Zaidi, Ali; Opotowsky, Alexander; Grewal, Jasmine; Kay, Joseph; Bhatt, Ami B; Novak, Eric; Spertus, John

    2016-03-01

    There is a lack of objective data on the symptoms characterizing disease activity among adults with congenital heart disease (ACHD). The purpose of this study was to elicit the most important symptoms from patients across the spectrum of ACHD and to examine whether reported symptoms were similar across the spectrum of ACHD as a foundation for creating a patient-reported outcome measure(s). We constructed a 39-item survey using input from physicians specializing in ACHD to assess the symptoms patients associate with disease activity. Patients (n=124) prospectively completed this survey, and the results were analyzed based on underlying anatomy and disease complexity. A confirmatory cohort of patients (n=40) was then recruited prospectively to confirm the validity of the initial data. When grouped based on underlying anatomy, significant differences in disease-related symptom rankings were found for only 6 of 39 symptoms. Six symptoms were identified which were of particular significance to patients, regardless of underlying anatomy. Patients with anatomy of great complexity experienced greater overall symptom severity than those with anatomy of low or moderate complexity, attributable exclusively to higher ranking of 5 symptoms. The second patient cohort had symptom experiences similar to those of the initial cohort, differing in only 5 of 39 symptoms. This study identified 6 symptoms relevant to patients across the spectrum of ACHD and remarkable homogeneity of patient experience, suggesting that a single disease-specific patient-reported outcome can be created for quality and outcome assessments. © 2016 American Heart Association, Inc.

  6. The impact of actual and perceived disease severity on pre-operative psychological well-being and illness behaviour in adult congenital heart disease patients

    NARCIS (Netherlands)

    Callus, Edward; Utens, Elisabeth M. W. J.; Quadri, Emilia; Ricci, Cristian; Carminati, Mario; Giamberti, Alessandro; Chessa, Massimo

    2014-01-01

    The purpose of this study was to investigate whether the objective medical parameters related to congenital heart disease and patients' ratings of cardiac disease severity were related to psychological well-being and illness behaviour during the pre-operative period. A total of 143 patients (63 male

  7. Congenital intestinal lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Popović Dušan Đ.

    2011-01-01

    Full Text Available Background. Congenital intestinal lymphangiectasia is a disease which leads to protein losing enteropathy. Tortous, dilated lymphatic vessels in the intestinal wall and mesenterium are typical features of the disease. Clinical manifestations include malabsorption, diarrhea, steatorrhea, edema and effusions. Specific diet and medication are required for disease control. Case report. A 19-year old male patient was hospitalized due to diarrhea, abdominal swelling, weariness and fatigue. Physical examination revealed growth impairment, ascites, and lymphedema of the right hand and forearm. Laboratory assessment indicated iron deficiency anaemia, lymphopenia, malabsorption, inflammatory syndrome, and urinary infection. Enteroscopy and video capsule endoscopy demonstrated dilated lymphatic vessels in the small intestine. The diagnosis was confirmed by intestinal biopsy. The patient was put on high-protein diet containing medium-chain fatty acids, somatotropin and suportive therapy. Conclusion. Congenital intestinal lymphangiectasia is a rare disease, usually diagnosed in childhood. Early recognition of the disease and adequate treatment can prevent development of various complications.

  8. Computed tomography for imaging of pediatric congenital heart disease; Die Computertomographie bei der Bildgebung von Kindern mit kongenitalen Herzvitien

    Energy Technology Data Exchange (ETDEWEB)

    Glaser-Gallion, N.; Stinn, B.; Wildermuth, S.; Leschka, S. [Kantonsspital St.Gallen, Universitaet Zuerich, Institut fuer Radiologie, St. Gallen (Switzerland); Alkadhi, H. [Universitaetsspital Zuerich, Institut fuer Diagnostisch und Interventionelle Radiologie, Zuerich (Switzerland); Lell, M. [Universitaetsklinikum Erlangen, Institut fuer Radiologie, Erlangen (Germany); Goo, H.W. [University of Ulsan, College of Medicine, Asan Medical Center, Department of Radiology, Seoul (Korea, Republic of); Paul, J.F. [Marie Lannelongue Hospital, Radiology Unit, Plessis Robinson (France)

    2011-01-15

    Congenital heart diseases are the most common congenital abnormalities of development. In general, echocardiography and cardiac catheter angiography are considered the gold standard for the evaluation of congenital heart disease. Cardiac magnetic resonance imaging has become an important supplementary imaging modality because of its ability to provide an accurate morphological and functional evaluation. The role of cardiac computed tomography in the imaging of patients with congenital heart disease is becoming increasingly more important due to the development of low radiation dose protocols and improvements in the spatial and temporal resolution. In the preoperative depiction and follow-up after surgical repair of congenital heart diseases, cardiac computed tomography provides detailed information of the heart, the venous and arterial pulmonary circulation as well as systemic arteries. This article reviews the technical aspects of cardiac CT and the modification of examination protocols according to the expected pathology and patient age. The potentials and limitations of the various radiation dose reduction strategies are outlined. (orig.) [German] Kongenitale Herzfehler sind die haeufigsten kongenitalen Fehlbildungen. Echokardiographie und Katheterangiographie gelten allgemein als Goldstandard zur Abklaerung angeborener Herzerkrankungen. Die Magnetresonanztomographie ist aufgrund ihrer Faehigkeit, Herzvitien morphologisch und funktionell zu charakterisieren, als ein wichtiges ergaenzendes Verfahren anzusehen. Durch mehr und mehr dosissparende Untersuchungsprotokolle der neuesten Geraetegenerationen und eine gleichzeitig bessere zeitliche und raeumliche Aufloesung findet die Computertomographie zunehmend Eingang in die Abklaerung kongenitaler Herzfehler. In der praeoperativen Planung und der postoperativen Kontrolle erlaubt sie eine uebersichtliche Darstellung komplexer Fehlbildung nicht nur des Herzens, sondern auch der pulmonalvenoesen und -arteriellen

  9. Embolization of Collateral Vessels Using Mechanically Detachable Coils in Young Children with Congenital Heart Disease

    International Nuclear Information System (INIS)

    Sato, Y.; Ogino, H.; Hara, M.; Satake, M.; Oshima, H.; Banno, T.; Mizuno, K.; Mishima, A.; Shibamoto, Y.

    2003-01-01

    Our objective was to evaluate the usefulness of embolizing collateral vessels using mechanically detachable coils (MDCs) in children aged 3 years or younger with congenital heart disease. The subjects were 8 children with congenital heart disease featuring collateral vessels (age 18 days-3 years): 3 with a single ventricle, 2 with the tetralogy of Fallot, 2 with pulmonary atresia, and 1 with a ventricular septal defect. The embolized vessels were the major aortopulmonary collateral artery (MAPCA) in 5 patients, the persistent left superior vena cava in 2, and the coronary arteriovenous fistula in 1. A 4 or a 5 F catheter was used as the guiding device, and embolization was performed using MDCs and other conventional coils introduced through the microcatheter. One patient had growth of new MAPCAs after embolization, and these MAPCAs were also embolized with MDCs. Thus, a total of 9 embolization procedures were performed in 8 patients. Complete occlusion of the collateral vessels was achieved in 8 of 9 procedures (89%). Seven of 8 patients (88%) had uneventful courses after embolization, and MDC procedures appeared to play important roles in avoiding coil migration and achievement of safe coil embolization. One patient who underwent MAPCA embolization showed no improvement in heart function and died 2 months and 19 days later. Embolization of collateral vessels using MDCs in young children with congenital heart disease can be an effective procedure and a valuable adjunct to surgical management

  10. Risk Factors of Congenital Heart Diseases: A Case-Control Study inNorthwest Iran.

    Science.gov (United States)

    Naghavi-Behzad, Mohammad; Alizadeh, Mahasti; Azami, Saber; Foroughifar, Shirin; Ghasempour-Dabbaghi, Khazar; Karzad, Nazila; Ahadi, Hamid-Reza; Naghavi-Behzad, Ali

    2013-01-01

    Congenital heart diseases are of immense importance and also a high prevalence. Contributing factors to developing these defects have not been abundantly studied. Therefore, the current study was conducted aiming at determining the effective factors on Congenital Heart Disease (CHD) in newborn infants of Northwest Iran. A case-control study was carried out in North-West of Iran from 2002 to 2012 and a total of 473 infants entered the study. Required data were obtained through check lists completed by the information of hospital records and interview with mothers of 267 newborn infants with CHD together with medical records of mothers as the case group, and 206 medical records of healthy infants at the same period all together with those of their mothers as the control group. The obtained data were statistically analyzed using descriptive statistical methods, T-test, Spearman's correlation coefficient, and Multi-variable Logistic Regression Model (OR with 95% CI), using SPSS.19. In the present study, P value less than 0.05 was considered statistically significant. Based on the results of univariable analyses, the number of previous cesarean sections, past medical history of diseases, gestational age (GA), fetal weight at birth, diastolic blood pressure, fetal heart rate, pulse rate, fetal hemoglobin and hematocrit levels, and fetal head circumference at birth have significant relationship with incidence of congenital abnormalities (Prelationship with CHD incidence. Based on the results of present study, in order to control and reduce the cases of CHD, it is crucial to make proper decisions and implement policies for reducing cesarean cases, lowering consanguineous marriages, providing proper pre-marriage counseling, prompt treatment of mothers' illnesses, improving pregnancy health care and mothers' health status for the purpose of better well-being of newborn infants.

  11. Risk Factors of Congenital Heart Diseases: A Case-Control Study in Northwest Iran

    Directory of Open Access Journals (Sweden)

    Naghavi-Behzad Mohammad

    2013-03-01

    Full Text Available Introduction: Congenital heart diseases are of immense importance and also a high prevalence. Contributing factors to developing these defects have not been abundantly studied. Therefore, the current study was conducted aiming at determining the effective factors on Congenital Heart Disease (CHD in newborn infants of Northwest Iran. Methods: A case-control study was carried out in North-West of Iran from 2002 to 2012 and a total of 473 infants entered the study. Required data were obtained through check lists completed by the information of hospital records and interview with mothers of 267 newborn infants with CHD together with medical records of mothers as the case group, and 206 medical records of healthy infants at the same period all together with those of their mothers as the control group. The obtained data were statistically analyzed using descriptive statistical methods, T-test, Spearman’s correlation coefficient, and Multi-variable Logistic Regression Model (OR with 95% CI, using SPSS.19. In the present study, P value less than 0.05 was considered statistically significant. Results: Based on the results of univariable analyses, the number of previous cesarean sections, past medical history of diseases, gestational age (GA, fetal weight at birth, diastolic blood pressure, fetal heart rate, pulse rate, fetal hemoglobin and hematocrit levels, and fetal head circumference at birth have significant relationship with incidence of congenital abnormalities (P<0.05. Family history, past cesarean sections history, past medical history and GA had significant relationship with CHD incidence. Conclusion: Based on the results of present study, in order to control and reduce the cases of CHD, it is crucial to make proper decisions and implement policies for reducing cesarean cases, lowering consanguineous marriages, providing proper pre-marriage counseling, prompt treatment of mothers’ illnesses, improving pregnancy health care and mothers

  12. The impact of obesity on early postoperative outcomes in adults with congenital heart disease.

    Science.gov (United States)

    Zaidi, Ali N; Bauer, John A; Michalsky, Marc P; Olshove, Vincent; Boettner, Bethany; Phillips, Alistair; Cook, Stephen C

    2011-01-01

    As the prevalence of obesity continues to increase, it now includes the growing number of patients with congenital heart disease (CHD). This particular obese patient population may pose additional intraoperative as well as postoperative challenges that may contribute to poor outcomes. Our aims were to determine the influence of obesity on morbidity and mortality in adults with CHD undergoing surgical repair at a free standing children's hospital. A retrospective analysis of adult (≥18 years) CHD surgery cases from 2002 to 2008 was performed. Congenital heart lesions were defined as mild, moderate, or complex. Patients were categorized by body mass index (BMI): underweight (BMI obese (BMI ≥ 30 kg/m(2)). Demographics, incidence of mortality, or specific morbidities were statistically compared using Fisher's exact test and analyses of variance (anovas). In this population (n = 165), overweight (29%) and obese (22%) patients were prevalent. Hypertension (HTN) and pre-HTN were more prevalent in obese and overweight patients. Postoperative renal dysfunction was observed in obese patients with complex CHD (P = .04). Mortality was not different among groups. Obesity is becoming increasingly common among adults with CHD. Despite marginal evidence of postoperative renal complications in obese patients with CHD of severe complexity, the overall presence of obesity did not influence mortality or short term postoperative morbidities. © 2011 Copyright the Authors. Congenital Heart Disease © 2011 Wiley Periodicals, Inc.

  13. 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 ...

  14. Congenital asymmetric crying face: a case report

    Directory of Open Access Journals (Sweden)

    Semra Kara

    2011-12-01

    Full Text Available Congenital asymmetric crying face is an anomalia caused by unilateral absence or weakness of depressor anguli oris muscle The major finding of the disease is the absence or weakness in the outer and lower movement of the commissure during crying. The other expression muscles are normal and the face is symmetric at rest. The asymmetry in congenital asymmetric crying face is most evident during infancy but decreases by age. Congenital asymmetric crying face can be associated with cervicofacial, musclebone, respiratory, genitourinary and central nervous system anomalia. It is diagnosed by physical examination. This paper presents a six days old infant with Congenital asymmetric crying face and discusses the case in terms of diagnosis and disease features.

  15. Building mobile technologies to improve transitions of care in adolescents with congenital heart disease

    Science.gov (United States)

    Congenital heart diseases (CHDs) are the most common type of birth defects. Improvements in CHD care have led to roughly 1.4 million survivors reaching adulthood. This emerging "survivor" population are often palliated but not cured. Thus successful transition from pediatric to adult care for CHD pa...

  16. VACCINATION OF PREMATURE INFANTS AND CHILDREN WITH CONGENITAL HEART DISEASE IN IRKUTSK USING CONJUGATED PNEUMOCOCCAL VACCINES

    Directory of Open Access Journals (Sweden)

    S. V. Il'ina

    2013-01-01

    Full Text Available Study aim: analyzing the results of pneumococcal infection vaccination conducted to reduce infantile morbidity and mortality in 2011-2012 at the expenses of the Irkutsk municipal budget. Patients and methods. Vaccination using the 7- and 13-valent pneumococcal conjugated vaccine was conducted for more than 700 risk group children: premature infants, children with congenital heart diseases or bronchopulmonary dysplasia from 2 months to 2 years of age. 193 vaccinated children had been observed for 1.5 years. 30% of premature infants and 46% of children with congenital heart diseases were vaccinated using the PCV7/PCV13 vaccine at the age of 2-6 months, 52 and 40% - at the age of 7-11 months, accordingly. The PCV7/PCV13 vaccine was administered together with other vaccines of the national preventive vaccination calendar in 65% of cases. Results. Rate of general post-vaccinal reactions (body temperature increase from 37.6 to 38.0oC – 4%; no local reactions were registered. No other unfavorable phenomena were noted in the post-vaccinal period. No cases of pneumonia, meningitis, acute otitis media and bronchoobstructive syndrome were registered within the observation period. Conclusions: pneumococcal infection vaccination of premature infants with congenital heart diseases and bronchopulmonary dysplasia conducted in Irkutsk proved high efficacy and safety of the used vaccine – PCV7/PCV13. 

  17. Congenital heart disease in adults and its problems

    Directory of Open Access Journals (Sweden)

    Teddy Ontoseno

    2001-10-01

    Full Text Available There were 40 adult congenital heart disease (CHD patients seen in the Cardiology Division during 1 year (February 1993 - February 1994. The most frequently seen defect was atrial septal defect; however there were also cases with patent ductus arteriosus, pulmonary stenosis, ventricular septal defect, and tetralogy of Fallot. Hemodynamic disorder, serious hindrance to education achievement, and occupational threat due to limited physical capabilities as well as malnutrition are some of prominent issues to be closely anticipated. In general the older the patients the more serious hemodynamic disorder they suffer due CHD. It is worth thinking how to improve the quality of life of CHD patients who succeed to live their adult lives and minimize any possible fatal complication risks.

  18. 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

  19. Pregnancy-related Health Behavior of Women with Congenital Heart Disease : Room for Behavioral Change Interventions

    NARCIS (Netherlands)

    Moons, Philip; Budts, Werner; Costermans, Els; Huyghe, Els; Pieper, Petronella G.; Drenthen, Wim

    2009-01-01

    Background. Pregnancy in women with congenital heart disease is associated with maternal and neonatal complications. In order to reduce risks for unfavorable outcomes, pregnant women need to adopt specific health behaviors. We investigated the pregnancy-related health behavior of women with

  20. Rhabdomyolysis associated with human parvovirus B19 infection in a patient with Fukuyama-type congenital muscular dystrophy.

    Science.gov (United States)

    Ishikawa, Aki; Yoto, Yuko; Ohya, Kazuhiro; Tsugawa, Takeshi; Tsutsumi, Hiroyuki

    2014-07-01

    Patients with Fukuyama-type congenital muscular dystrophy sometimes experience transient exacerbations of muscle weakness. We took care of a 9-year-old boy with Fukuyama-type congenital muscular dystrophy who presented with acute respiratory failure and decreased exercise ability with marked elevation of serum creatine kinase indicating rhabdomyolysis. At that time, his younger sister suffered from erythema infectiosum. Although he had no particular symptoms, he was tested and proven to have acute human parvovirus B19 infection based on detection of anti-B19 IgM and parvovirus B19 DNA in his serum. His acute rhabdomyolysis was possibly triggered by human parvovirus B19 infection. © The Author(s) 2013.

  1. Management of the Preterm Infant with Congenital Heart Disease.

    Science.gov (United States)

    Axelrod, David M; Chock, Valerie Y; Reddy, V Mohan

    2016-03-01

    The premature neonate with congenital heart disease (CHD) represents a challenging population for clinicians and researchers. The interaction between prematurity and CHD is poorly understood; epidemiologic study suggests that premature newborns are more likely to have CHD and that fetuses with CHD are more likely to be born premature. Understanding the key physiologic features of this special patient population is paramount. Clinicians have debated optimal timing for referral for cardiac surgery, and management in the postoperative period has rapidly advanced. This article summarizes the key concepts and literature in the care of the premature neonate with CHD. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Trends in the utilization of computed tomography and cardiac catheterization among children with congenital heart disease.

    Science.gov (United States)

    Yang, Justin Cheng-Ta; Lin, Ming-Tai; Jaw, Fu-Shan; Chen, Shyh-Jye; Wang, Jou-Kou; Shih, Tiffany Ting-Fang; Wu, Mei-Hwan; Li, Yiu-Wah

    2015-11-01

    Pediatric cardiac computed tomography (CT) is a noninvasive imaging modality used to clearly demonstrate the anatomical detail of congenital heart diseases. We investigated the impact of cardiac CT on the utilization of cardiac catheterization among children with congenital heart disease. The study sample consisted of 2648 cardiac CT and 3814 cardiac catheterization from 1999 to 2009 for congenital heart diseases. Diagnoses were categorized into 11 disease groups. The numbers of examination, according to the different modalities, were compared using temporal trend analyses. The estimated effective radiation doses (mSv) of CT and catheterization were calculated and compared. The number of CT scans and interventional catheterizations had a slight annual increase of 1.2% and 2.7%, respectively, whereas that of diagnostic catheterization decreased by 6.2% per year. Disease groups fell into two categories according to utilization trend differences between CT and diagnostic catheterization. The increased use of CT reduces the need for diagnostic catheterization in patients with atrioventricular connection disorder, coronary arterial disorder, great vessel disorder, septal disorder, tetralogy of Fallot, and ventriculoarterial connection disorder. Clinicians choose either catheterization or CT, or both examinations, depending on clinical conditions, in patients with semilunar valvular disorder, heterotaxy, myocardial disorder, pericardial disorder, and pulmonary vein disorder. The radiation dose of CT was lower than that of diagnostic cardiac catheterization in all age groups. The use of noninvasive CT in children with selected heart conditions might reduce the use of diagnostic cardiac catheterization. This may release time and facilities within the catheterization laboratory to meet the increasing demand for cardiac interventions. Copyright © 2014. Published by Elsevier B.V.

  3. Prevalence of congenital heart disease in rural communities of pakistan

    International Nuclear Information System (INIS)

    Rizvi, S.F.U.; Mustafa, G.; Khan, M.A.; Kundi, A.

    2015-01-01

    Prevalence of congenital heart disease (CHD) is well established in most of the developed countries, where childbirth is obligatory in hospital and allied facilities. In rural Pakistan the situation is reverse, where most of deliveries take place in homes by traditional birth attendants' therefor true prevalence of CHD in our population is unknown. in rural Pakistan almost 80% children are born at home hence the figures are unknown. This study was designed, to determine the prevalence of congenital heart disease in rural Pakistan. Methods: During a cross-sectional survey of rural population belonging to major ethnic groups living in three provinces of Pakistan to determine the prevalence of rheumatic heart disease (RHD), CHD rates were calculated as a sub study. Nine thousand four hundred and seventy-six (9476) subjects of all ages were screened using cluster sampling technique. Socio-demographic variables were recorded. Auscultation and short physical examination performed for initial screening and final diagnosis was confirmed on M-mode/2D/Doppler. Results: Thirty two patients had RHD, 25 Patients identified with CHD and another 7 patients had mixed CHD and RHD. Overall prevalence for CHD was 3.4/1000. The commonest lesion was Atrial Septal Defect (ASD) 40%, Ventricular Septal Defect (VSD) 35%, Aortic Stenosis (AS) 10%, Atrio Ventricular Septal Defect (AVSD) 5%. Conclusion: This is the first study to report CHD prevalence from multiethnic representative sample from rural communities of Pakistan. Apparently CHD rate seems less compared with facility based data because records of still stillbirths are not available and autopsies are not performed as routine. Very high infant mortality from rural areas of Pakistan also favours high prevalence for CHD; however these figures represent an overall picture of CHD in a community where medical facilities are lacking. (author)

  4. Lutembacher's syndrome: A rare combination of congenital and ...

    African Journals Online (AJOL)

    Because the mitral stenosis was, in fact, rheumatic in aetiology, the syndrome was defined eventually as a combination of congenital atrial septal defect and acquired, almost always rheumatic, mitral stenosis. Keywords:Lutembacher's syndrome, congenital heart disease, valvular heart disease, atrial septal defect, mitral ...

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

    Science.gov (United States)

    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.

  6. 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.

  7. Health-related fitness profiles in adolescents with complex congenital heart disease

    DEFF Research Database (Denmark)

    Klausen, Susanne Hwiid; Wetterslev, Jørn; Søndergaard, Lars

    2015-01-01

    PURPOSE: This study investigates whether subgroups of different health-related fitness (HrF) profiles exist among girls and boys with complex congenital heart disease (ConHD) and how these are associated with lifestyle behaviors. METHODS: We measured the cardiorespiratory fitness, muscle strength...... in the Robust clusters reported leading a physically active lifestyle and participants in the Less robust cluster reported leading a sedentary lifestyle. Diagnoses were evenly distributed between clusters. CONCLUSIONS: The cluster analysis attributed some of the variability in cardiorespiratory fitness among...

  8. Movement Induces the Use of External Spatial Coordinates for Tactile Localization in Congenitally Blind Humans.

    Science.gov (United States)

    Heed, Tobias; Möller, Johanna; Röder, Brigitte

    2015-01-01

    To localize touch, the brain integrates spatial information coded in anatomically based and external spatial reference frames. Sighted humans, by default, use both reference frames in tactile localization. In contrast, congenitally blind individuals have been reported to rely exclusively on anatomical coordinates, suggesting a crucial role of the visual system for tactile spatial processing. We tested whether the use of external spatial information in touch can, alternatively, be induced by a movement context. Sighted and congenitally blind humans performed a tactile temporal order judgment task that indexes the use of external coordinates for tactile localization, while they executed bimanual arm movements with uncrossed and crossed start and end postures. In the sighted, start posture and planned end posture of the arm movement modulated tactile localization for stimuli presented before and during movement, indicating automatic, external recoding of touch. Contrary to previous findings, tactile localization of congenitally blind participants, too, was affected by external coordinates, though only for stimuli presented before movement start. Furthermore, only the movement's start posture, but not the planned end posture affected blind individuals' tactile performance. Thus, integration of external coordinates in touch is established without vision, though more selectively than when vision has developed normally, and possibly restricted to movement contexts. The lack of modulation by the planned posture in congenitally blind participants suggests that external coordinates in this group are not mediated by motor efference copy. Instead the task-related frequent posture changes, that is, movement consequences rather than planning, appear to have induced their use of external coordinates.

  9. Toward Improving Early Diagnosis of Congenital Chagas Disease in an Endemic Setting.

    Science.gov (United States)

    Messenger, Louisa A; Gilman, Robert H; Verastegui, Manuela; Galdos-Cardenas, Gerson; Sanchez, Gerardo; Valencia, Edward; Sanchez, Leny; Malaga, Edith; Rendell, Victoria R; Jois, Malasa; Shah, Vishal; Santos, Nicole; Abastoflor, Maria Del Carmen; LaFuente, Carlos; Colanzi, Rony; Bozo, Ricardo; Bern, Caryn

    2017-07-15

    Congenital Trypanosoma cruzi transmission is now estimated to account for 22% of new infections, representing a significant public health problem across Latin America and internationally. Treatment during infancy is highly efficacious and well tolerated, but current assays for early detection fail to detect >50% of infected neonates, and 9-month follow-up is low. Women who presented for delivery at 2 urban hospitals in Santa Cruz Department, Bolivia, were screened by rapid test. Specimens from infants of infected women were tested by microscopy (micromethod), quantitative PCR (qPCR), and immunoglobulin (Ig)M trypomastigote excreted-secreted antigen (TESA)-blots at birth and 1 month and by IgG serology at 6 and 9 months. Among 487 infants of 476 seropositive women, congenital T. cruzi infection was detected in 38 infants of 35 mothers (7.8%). In cord blood, qPCR, TESA-blot, and micromethod sensitivities/specificities were 68.6%/99.1%, 58.3%/99.1%, and 16.7%/100%, respectively. When birth and 1-month results were combined, cumulative sensitivities reached 84.2%, 73.7%, and 34.2%, respectively. Low birthweight and/or respiratory distress were reported in 11 (29%) infected infants. Infants with clinical signs had higher parasite loads and were significantly more likely to be detected by micromethod. The proportion of T. cruzi-infected infants with clinical signs has fallen since the 1990s, but symptomatic congenital Chagas disease still represents a significant, albeit challenging to detect, public health problem. Molecular methods could facilitate earlier diagnosis and circumvent loss to follow-up but remain logistically and economically prohibitive for routine screening in resource-limited settings. © The Author 2017. Published by Oxford University Press for the Infectious Diseases Society of America. All rights reserved. For permissions, e-mail: journals.permissions@oup.com

  10. Congenital cytomegalovirus infection : disease burden and screening tools : towards newborn screening

    NARCIS (Netherlands)

    Vries, Jutte Jacoba Catharina de

    2012-01-01

    Cytomegalovirus (CMV) infection is the most common congenital viral infection worldwide. The symptom of congenital CMV infection encountered most frequently is sensorineural hearing loss, which will affect approximately one out of five congenitally infected newborns. Because of the late-onset nature

  11. Human hereditary diseases associated with elevated frequency of chromosome aberrations

    International Nuclear Information System (INIS)

    Ejima, Yosuke

    1988-01-01

    Human recessive diseases collectively known as chromosome breakage syndromes include Fanconi's anemia, Bloom's syndrome and ataxia telangiectasia. Cells from these patients show chromosome instabilities both spontaneously and following treatments with radiations or certain chemicals, where defects in DNA metabolisms are supposed to be involved. Cells from patients with ataxia telangiectasia are hypersensitive to ionizing radiations, though DNA replication is less affected than in normal cells. Chromatid-type as well as chromosom-type aberrations are induced in cells irradiated in G 0 or G 1 phases. These unusual responses to radiations may provide clues for understanding the link between DNA replicative response and cellular radiosensitivity. Alterations in cellular radiosensitivity or spontaneous chromosome instabilities are observed in some patients with congenital chromosome anomalies or dominant diseases, where underlying defects may be different from those in recessive diseases. (author)

  12. Human hereditary diseases associated with elevated frequency of chromosome aberrations

    Energy Technology Data Exchange (ETDEWEB)

    Ejima, Yosuke; Ikushima, Takaji (ed.)

    1988-07-01

    Human recessive diseases collectively known as chromosome breakage syndromes include Fanconi's anemia, Bloom's syndrome and ataxia telangiectasia. Cells from these patients show chromosome instabilities both spontaneously and following treatments with radiations or certain chemicals, where defects in DNA metabolisms are supposed to be involved. Cells from patients with ataxia telangiectasia are hypersensitive to ionizing radiations, though DNA replication is less affected than in normal cells. Chromatid-type as well as chromosom-type aberrations are induced in cells irradiated in G/sub 0/ or G/sub 1/ phases. These unusual responses to radiations may provide clues for understanding the link between DNA replicative response and cellular radiosensitivity. Alterations in cellular radiosensitivity or spontaneous chromosome instabilities are observed in some patients with congenital chromosome anomalies or dominant diseases, where underlying defects may be different from those in recessive diseases.

  13. Congenital malaria in China.

    Directory of Open Access Journals (Sweden)

    Zhi-Yong Tao

    2014-03-01

    Full Text Available BACKGROUND: Congenital malaria, in which infants are directly infected with malaria parasites from their mother prior to or during birth, is a potentially life-threatening condition that occurs at relatively low rates in malaria-endemic regions. It is recognized as a serious problem in Plasmodium falciparum-endemic sub-Saharan Africa, where recent data suggests that it is more common than previously believed. In such regions where malaria transmission is high, neonates may be protected from disease caused by congenital malaria through the transfer of maternal antibodies against the parasite. However, in low P. vivax-endemic regions, immunity to vivax malaria is low; thus, there is the likelihood that congenital vivax malaria poses a more significant threat to newborn health. Malaria had previously been a major parasitic disease in China, and congenital malaria case reports in Chinese offer valuable information for understanding the risks posed by congenital malaria to neonatal health. As most of the literature documenting congenital malaria cases in China are written in Chinese and therefore are not easily accessible to the global malaria research community, we have undertaken an extensive review of the Chinese literature on this subject. METHODS/PRINCIPAL FINDINGS: Here, we reviewed congenital malaria cases from three major searchable Chinese journal databases, concentrating on data from 1915 through 2011. Following extensive screening, a total of 104 cases of congenital malaria were identified. These cases were distributed mainly in the eastern, central, and southern regions of China, as well as in the low-lying region of southwest China. The dominant species was P. vivax (92.50%, reflecting the malaria parasite species distribution in China. The leading clinical presentation was fever, and other clinical presentations were anaemia, jaundice, paleness, diarrhoea, vomiting, and general weakness. With the exception of two cases, all patients

  14. 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

  15. Clinicians' perspectives on patient satisfaction in adult congenital heart disease clinics--a dimension of health care quality whose time has come.

    Science.gov (United States)

    Rozenblum, Ronen; Gianola, Ann; Ionescu-Ittu, Raluca; Verstappen, Amy; Landzberg, Michael; Gurvitz, Michelle; Jenkins, Kathy; Bates, David W; Marelli, Ariane J

    2015-01-01

    Patient-centered care and patient satisfaction represent key dimensions of health care quality. This is relevant for the growing number of patients with life-long conditions. In the present study, our goal was to examine clinicians' attitudes and behavior with respect to patient satisfaction in adult congenital heart disease outpatient clinics. A 34-question survey was developed to assess adult congenital heart disease clinicians' awareness, attitudes, and behavior relative to patient satisfaction and administered in-person or online to clinicians from the largely U.S.-based Adult Congenital Heart Association's database of adult congenital heart disease health care providers. Overall, 267 questionnaires were filled out: 108 were collected in person (79% response rate) and 159 online (17.5% response rate). Responses were received from physicians (161); nurses (73); physician assistants (20); and others (13). Although 85% of clinicians believed it was important to inquire about patient satisfaction, only 28% reported routinely inquiring about this dimension of care. Only 34% claimed they had adequate training to cope with varying levels of patient satisfaction, 44% stated that their department utilized patient satisfaction surveys, and 37% received feedback from the hospital management in the preceding 12 months. In multivariate analyses, clinicians that received feedback from the hospital management and had adequate training were more likely to inquire about patient satisfaction. Although patient satisfaction is perceived as an important dimension of quality care by adult congenital heart disease clinicians, most of them reported insufficient institutional support to achieve this. Our findings suggest that clinicians would benefit from health care organizations engaging them in the delivery of this dimension of health care quality. © 2014 Wiley Periodicals, Inc.

  16. The Italian National Register of infants with congenital hypothyroidism: twenty years of surveillance and study of congenital hypothyroidism

    Directory of Open Access Journals (Sweden)

    Olivieri Antonella

    2009-02-01

    Full Text Available Abstract All the Italian Centres in charge of screening, diagnosis, and follow-up of infants with congenital hypothyroidism participate in the Italian National Registry of affected infants, which performs the nationwide surveillance of the disease. It was established in 1987 as a program of the Health Ministry and is coordinated by the Istituto Superiore di Sanità. The early diagnosis performed by the nationwide newborn screening programme, the prompt treatment and the appropriate clinical management of the patients carried out by the Follow-up Centres, and the surveillance of the disease performed by the National Register of infants with congenital hypothyroidism are the components of an integrated approach to the disease which has been successfully established in our country. The aim of the Register is to monitor efficiency and effectiveness of neonatal screening, to provide disease surveillance and to allow identification of possible aetiological risk factors for the disease. During the past twenty years the active and continuous collaboration between the Register and the Italian Screening and Follow up Centres for Congenital Hypothyroidism allowed to perform a standardization of screening procedures and considerable improvements in the time at starting treatment and in the dose of therapy. Furthermore, the large amount and the high quality of information collected in the Register provided a unique opportunity for research into the disease. This because data collected in the Register are highly representative as referred to the entire Italian population with congenital hypothyroidism. The results derived from the epidemiological studies performed in these years, by using the Register database, contributed to deepen the knowledge of congenital hypothyroidism, to start identifying the most important risk factors for the disease, and to orient molecular studies aimed at identifying new genes involved in the aetiology of this condition.

  17. Pulse Oximetry and Auscultation for Congenital Heart Disease Detection.

    Science.gov (United States)

    Hu, Xiao-Jing; Ma, Xiao-Jing; Zhao, Qu-Ming; Yan, Wei-Li; Ge, Xiao-Ling; Jia, Bing; Liu, Fang; Wu, Lin; Ye, Ming; Liang, Xue-Cun; Zhang, Jing; Gao, Yan; Zhai, Xiao-Wen; Huang, Guo-Ying

    2017-10-01

    Pulse oximetry (POX) has been confirmed as a specific screening modality for critical congenital heart disease (CCHD), with moderate sensitivity. However, POX is not able to detect most serious and critical cardiac lesions (major congenital heart disease [CHD]) without hypoxemia. In this study, we investigated the accuracy and feasibility of the addition of cardiac auscultation to POX as a screening method for asymptomatic major CHD. A multicenter prospective observational screening study was conducted at 15 hospitals in Shanghai between July 1, 2012, and December 31, 2014. Newborns with either an abnormal POX or cardiac auscultation were defined as screen positive. All screen-positive newborns underwent further echocardiography. False-negative results were identified by clinical follow-up, parents' feedback, and telephone review. We assessed the accuracy of POX plus cardiac auscultation for the detection of major CHD. CHD screening was completed in all 15 hospitals, with a screening rate of 94.0% to 99.8%. In total, 167 190 consecutive asymptomatic newborn infants were screened, of which 203 had major CHD (44 critical and 159 serious). The sensitivity of POX plus cardiac auscultation was 95.5% (95% confidence interval 84.9%-98.7%) for CCHD and 92.1% (95% confidence interval 87.7%-95.1%) for major CHD. The false-positive rate was 1.2% for detecting CCHD and 1.1% for detecting major CHD. In our current study, we show that using POX plus cardiac auscultation significantly improved the detection rate of major CHD in the early neonatal stage, with high sensitivity and a reasonable false-positive rate. It provides strong evidence and a reliable method for neonatal CHD screening. Copyright © 2017 by the American Academy of Pediatrics.

  18. Validity and reliability of the Physical Activity Questionnaire for Children (PAQ-C) and Adolescents (PAQ-A) in individuals with congenital heart disease

    OpenAIRE

    Voss, Christine; Dean, Paige H.; Gardner, Ross F.; Duncombe, Stephanie L.; Harris, Kevin C.

    2017-01-01

    Objective To assess the criterion validity, internal consistency, reliability and cut-point for the Physical Activity Questionnaire for Children (PAQ-C) and Adolescents (PAQ-A) in children and adolescents with congenital heart disease?a special population at high cardiovascular risk in whom physical activity has not been extensively evaluated. Methods We included 84 participants (13.6?2.9 yrs, 50% female) with simple (37%), moderate (31%), or severe congenital heart disease (27%), as well as ...

  19. Hip dysplasia and congenital hip dislocation

    Energy Technology Data Exchange (ETDEWEB)

    Lingg, G.; Nebel, G.; von Torklus, D.

    1981-11-01

    In human genetics and orthopedics quite different answers have been given to the question of hereditary transmission and frequency of hip dysplasia in families of children with congenital hip dislocation. We therefore have made roentgenometric measurements of 110 parents of children with congenital hip dislocation. In 25% we found abnormal flat acetabulae, whereas 12% had pathologic deep hips. This may propose a new concept of morphology of congenital hip dysplasia.

  20. The alteration of interelemental ratios in myocardium under the congenital heart disease (SRXRF)

    International Nuclear Information System (INIS)

    Trunova, V.A.; Zvereva, V.V.; Okuneva, G.N.; Levicheva, E.N.

    2007-01-01

    It is the myocardium that bears the basic functional loading during heart working, including muscle contractility and enzyme activity. The elemental concentrations in myocardium tissue of heart were determined by SRXRF technique. Our investigation is systematical: the elemental content in each compartment (left and right ventricles, left and right auricles) of hearts of healthy and diseased children (congenital heart diseases, transposition of main vessels (TMV)) was analyzed. The elemental distribution in myocardium of four heart chambers of human fetuses was also analyzed. Following elements were determined: S, Cl, K, Ca, Cr, Mn, Fe, Ni, Cu, Zn, As, Se, Br, Rb, Sr. It was revealed that the elemental concentrations in myocardium of both ventricles are almost constant in heart of fetuses and healthy children. The transition from pre-natal study (fetus) to post-natal study is accompanied by the redistribution of chemical elements in myocardium. The higher concentrations of S, Fe, Ca, Sr and Cu in myocardium of children are observed, the content of K, Br, Rb and especially Se is lower than in heart of fetuses. The elemental distribution in myocardium of children TMV is considerably different in comparison with the healthy children: the higher levels of Cu are observed. The content of Se is lower

  1. Generation of human iPSC line from a patient with laterality defects and associated congenital heart anomalies carrying a DAND5 missense alteration

    Directory of Open Access Journals (Sweden)

    Fernando Cristo

    2017-12-01

    Full Text Available A human iPSC line was generated from exfoliated renal epithelial (ERE cells of a patient affected with Congenital Heart Disease (CHD and Laterality Defects carrying tshe variant p.R152H in the DAND5 gene. The transgene-free iPSCs were generated with the human OSKM transcription factor using the Sendai-virus reprogramming system. The established iPSC line had the specific heterozygous alteration, a stable karyotype, expressed pluripotency markers and generated embryoid bodies that can differentiate towards the three germ layers in vitro. This iPSC line offers a useful resource to study the molecular mechanisms of cardiomyocyte proliferation, as well as for drug testing.

  2. Adult congenital heart disease nurse coordination: Essential skills and role in optimizing team-based care a position statement from the International Society for Adult Congenital Heart Disease (ISACHD).

    Science.gov (United States)

    Sillman, Christina; Morin, Joanne; Thomet, Corina; Barber, Deena; Mizuno, Yoshiko; Yang, Hsiao-Ling; Malpas, Theresa; Flocco, Serena Francesca; Finlay, Clare; Chen, Chi-Wen; Balon, Yvonne; Fernandes, Susan M

    2017-02-15

    Founded in 1992, the International Society for Adult Congenital Heart Disease (ISACHD) is the leading global organization of professionals dedicated to pursuing excellence in the care of adults with congenital heart disease (CHD) worldwide. Among ISACHD's objectives is to "promote a holistic team-based approach to the care of the adult with CHD that is comprehensive, patient-centered, and interdisciplinary" (http://www.isachd.org). This emphasis on team-based care reflects the fact that adults with CHD constitute a heterogeneous population with a wide spectrum of disease complexity, frequent association with other organ involvement, and varied co-morbidities and psychosocial issues. Recognizing the vital role of the adult CHD (ACHD) nurse coordinator (ACHD-NC) in optimizing team-based care, ISACHD established a task force to elucidate and provide guidance on the roles and responsibilities of the ACHD-NC. Acknowledging that nursing roles can vary widely from region to region based on factors such as credentials, scopes of practice, regulations, and local culture and tradition, an international panel was assembled with experts from North America, Europe, East Asia, and Oceania. The writing committee was tasked with reviewing key aspects of the ACHD-NC's role in team-based ACHD care. The resulting ISACHD position statement addresses the ACHD-NC's role and skills required in organizing, coordinating, and facilitating the care of adults with CHD, holistic assessment of the ACHD patient, patient education and counseling, and support for self-care management and self-advocacy. Crown Copyright © 2016. Published by Elsevier B.V. All rights reserved.

  3. 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)

  4. 1st and 2nd Trimester Headsize in Fetuses with Congenital Heart Disease: A Cohort Study

    DEFF Research Database (Denmark)

    Lauridsen, Mette Høj; Petersen, Olav Bjørn; Vestergaard, Else Marie

    2014-01-01

    and screening for fetal malformations is carried out. Our cohort includes all fetuses in Western Denmark (2.9 million inhabitants) screened in between January 1st 2012 and December 31st 2013, diagnosed with any structural, non-syndromic congenital heart disease either during pregnancy or up to 6 months after......Background: Congenital heart disease (CHD) is associated with neuro-developmental disorders. The influence of CHD on the brain may be present in the fetus. We hypothesize that fetal cerebral growth is impaired as early as 2nd trimester. Aim: To investigate if fetal cerebral growth is associated...... birth. Results 276 fetuses with CHD were identified. 114 (41%) were genetically screened primarily by chromosomal microarray analysis (n=82). Fetuses with identified chromosomal abnormalities were excluded as were multiple gestation fetuses and fetuses with major extra cardiac malformations. Data from...

  5. Congenital heart disease: a hard case for differential diagnosis and treatment

    Directory of Open Access Journals (Sweden)

    David Gonçalves Nordon

    2012-04-01

    Full Text Available ABSTRACT Congenital heart diseases are important malformations that might compromise not only the patient's survival, but also his/her quality of life. We present the case of a female newborn who presented cardiovascular unbalance and cianosis in spite of her previous month of life without any complication. Her differential diagnosis was rather difficult, due not only to restrictions of exams available for diagnosis, but also to their sensibility and specificity. We discuss such differential diagnosis and the complicated development of the case.

  6. Magnetic resonance imaging (MRI) of congenital cardiovascular malformations

    International Nuclear Information System (INIS)

    Sakakibara, Makoto; Kobayashi, Shirou; Imai, Hitoshi; Watanabe, Shigeru; Masuda, Yoshiaki; Inagaki, Yoshiaki; Morita, Huminori; Uematsu, Sadao; Arimizu, Noboru

    1986-01-01

    In order to determine the value of MRI in diagnosing congenital cardiovascular malformations, MR Images were obtained in 25 adult patients with congenital cardiovascular malformations. Gated MRI detected all of 13 atrial septal defects, and all of 4 ventricular septal defects, but ungated MRI detected none of 3 atrial septal defects. Other congenital cardiovascular malformations (2 with Ebstein's disease, 1 with Fallot's pentalogy, and 1 with Pulmonary stenosis) were well visualized. Vascular malformations (1 with Patent ducts arteriosus, 1 with Supravalvelar aortic stenosis, 1 with Coarctation of Aorta, 1 with Right Aortic Arch) were well visualized in all of 7 patients by ungated MRI. MRI was a valuable noninvasive method of diagnosing congenital heart disease. (author)

  7. Prevalence and Correlates of Post-traumatic Stress Disorder in Adults With Congenital Heart Disease.

    Science.gov (United States)

    Deng, Lisa X; Khan, Abigail May; Drajpuch, David; Fuller, Stephanie; Ludmir, Jonathan; Mascio, Christopher E; Partington, Sara L; Qadeer, Ayesha; Tobin, Lynda; Kovacs, Adrienne H; Kim, Yuli Y

    2016-03-01

    Post-traumatic stress disorder (PTSD) is associated with adverse outcomes and increased mortality in cardiac patients. No studies have examined PTSD in the adult congenital heart disease (ACHD) population. The objectives of this study were to assess the prevalence of self-reported symptoms of PTSD in patients with ACHD and explore potential associated factors. Patients were enrolled from an outpatient ACHD clinic and completed several validated measures including the Impact of Event Scale-Revised, PTSD Checklist-Civilian Version, and the Hospital Anxiety and Depression Scale. Clinical data were abstracted through medical data review. A total of 134 participants (mean age 34.6 ± 10.6; 46% men) were enrolled. Of the 127 participants who completed the Impact of Event Scale-Revised, 14 (11%) met criteria for elevated PTSD symptoms specifically related to their congenital heart disease or treatment. Of the 134 patients who completed PTSD Checklist-Civilian Version, 27 (21%) met criteria for global PTSD symptoms. In univariate analyses, patients with congenital heart disease-specific PTSD had their most recent cardiac surgery at an earlier year (p = 0.008), were less likely to have attended college (p = 0.04), had higher rates of stroke or transient ischemic attack (p = 0.03), and reported greater depressive symptoms on the Hospital Anxiety and Depression Scale (7 vs 2, p <0.001). In multivariable analysis, the 2 factors most strongly associated with PTSD were depressive symptoms (p <0.001) and year of most recent cardiac surgery (p <0.03). In conclusion, PTSD is present in 11% to 21% of subjects seen at a tertiary referral center for ACHD. The high prevalence of PTSD in this complex group of patients has important implications for the medical and psychosocial management of this growing population. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. Pacing in congenital heart disease - A four-decade experience in a single tertiary centre.

    Science.gov (United States)

    Midha, Disha; Chen, Zhong; Jones, David G; Williams, Howell J; Lascelles, Karen; Jarman, Julian; Clague, Jonathan; Till, Janice; Dimopoulos, Konstatinos; Babu-Narayan, Sonya V; Markides, Vias; Gatzoulis, Michael A; Wong, Tom

    2017-08-15

    The increased risk of brady- and tachy-arrhythmias in the congenital heart disease (CHD) population means that cardiac rhythm management devices are often required at an early age and expose patients to device-related complications. The present study drew upon four decades of experience at a tertiary adult congenital heart disease ACHD center and aimed to investigate the indication for cardiac implantable electronic devices (CIEDs) and predictors of late device-related complication requiring re-intervention. A retrospective review of pacing records of ACHD patients over forty years was carried out. The primary outcome measure was device related complication requiring re-intervention. Between 1970 and 2009, 238 structural CHD patients who received CIEDs with follow-up data were identified (structural group). As a comparator group, 98 patients with congenital conduction disease or long QT syndrome with a structurally normal heart (electrical group) were included in the study. During a mean follow-up of 9.6±8.5years, 72 (21%) patients (44 structural group, 28 electrical group) required ≥1 re-intervention due to device related complications. Multivariate analysis showed that age at the time of device implant was an independent predictor of late device-related complications (HR 0.77, 95% CI 0.60-0.98, p=0.04). Sub-analysis of the structural group showed that ACHD complexity (Bethesda guideline) was the only predictor late device-related complication in the structural group (HR 2.96, 95% CI: 1.67-5.26, p<0.01). Increasing age at device implant was inversely associated with late device-related complications. ACHD patients with complex anatomy are at increased risk of device-related complications at mid and long-term follow-up. Copyright © 2017 Elsevier B.V. All rights reserved.

  9. [Research progress in genetic abnormalities and etiological factors of congenital anorectal malformation].

    Science.gov (United States)

    Zhang, Yanli; Ren, Hongxia

    2016-01-01

    Congenital anorectal malformation (ARM) is one of the most common gastrointestinal congenital diseases, accounting for 1/4 in digestive tract malformation, and is one of the congenital malformations in routine surveillance by the World Health Organization. Because of the variety of risk factors and the complexity of the pathological changes, etiology of ARM is still not clear. It is mostly considered that ARM is resulted from hereditary factors and environmental factors in the development of embryogenesis. Through animal experiments, scholars have found that Hox, Shh, Fgf, Wnt, Cdx and TCF4, Eph and ephrin play crucial role during the development of digestive tract. When the genes/signaling pathway dysfunction occurs, ARM may happen. In addition, ARM is related to the external factors in pregnancy. Because of the complexity of related factors in the development of human embryogenesis, the research progress of human ARM is very slow. This paper reviews relevant literatures in genetic factors and environmental factors, in order to provide the theoretical basis for the treatment and prevention of ARM.

  10. Creating Shape Templates for Patient Specific Biventricular Modeling in Congenital Heart Disease

    Science.gov (United States)

    Gilbert, Kathleen; Farrar, Genevieve; Cowan, Brett R.; Suinesiaputra, Avan; Occleshaw, Christopher; Pontré, Beau; Perry, James; Hegde, Sanjeet; Marsden, Alison; Omens, Jeff; McCulloch, Andrew; Young, Alistair A.

    2018-01-01

    Survival rates for infants with congenital heart disease (CHD) are improving, resulting in a growing population of adults with CHD. However, the analysis of left and right ventricular function is very time-consuming owing to the variety of congenital morphologies. Efficient customization of patient geometry and function depends on high quality shape templates specifically designed for the application. In this paper, we combine a method for creating finite element shape templates with an interactive template customization to patient MRI examinations. This enables different templates to be chosen depending on patient morphology. To demonstrate this pipeline, a new biventricular template with 162 elements was created and tested in place of an existing 82-element template. The method was able to provide fast interactive biventricular analysis with 0.31 sec per edit response time. The new template was customized to 13 CHD patients with similar biventricular topology, showing improved performance over the previous template and good agreement with clinical indices. PMID:26736353

  11. Children with hemodynamically significant congenital heart disease can be identified through population-based registers

    DEFF Research Database (Denmark)

    Bergman, Gunnar; Hærskjold, Ann; Stensballe, Lone Graff

    2015-01-01

    BACKGROUND: Epidemiological research is facilitated in Sweden by a history of national health care registers, making large unselected national cohort studies possible. However, for complex clinical populations, such as children with congenital heart disease (CHD), register-based studies...... are challenged by registration limitations. For example, the diagnostic code system International Classification of Diseases, 10th version (ICD-10) does not indicate the clinical significance of abnormalities, therefore may be of limited use if used as the sole parameter in epidemiological research. Palivizumab...

  12. Three-dimensional cine MRI in free-breathing infants and children with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Seeger, Achim; Fenchel, Michael C.; Kramer, Ulrich; Bretschneider, Christiane; Doering, Joerg; Claussen, Claus D.; Miller, Stephan [University of Tuebingen (Germany). Department of Diagnostic and Interventional Radiology; Greil, Gerald F. [St. Thomas Hospital, Division of Imaging Sciences, King' s College London (United Kingdom); Martirosian, Petros [University of Tuebingen, Section of Experimental Radiology, Tuebingen (Germany); Sieverding, Ludger [University of Tuebingen, Department of Pediatric Cardiology, Tuebingen (Germany)

    2009-12-15

    Patients with congenital heart disease frequently have complex cardiac and vascular malformations requiring detailed non-invasive diagnostic evaluation including functional parameters. To evaluate the morphological and functional information provided by a novel 3-D cine steady-state free-precession (SSFP) sequence. Twenty consecutive children (mean age 2.2 years, nine boys) were examined using a 1.5-T MR system including 2-D cine gradient-recalled-echo sequences, static 3-D SSFP and 3-D cine SSFP sequences. Measurement of ventricular structures and volumes showed close agreement between the 3-D cine SSFP sequence and the 2-D cine gradient-recalled-echo and static 3-D SSFP sequences (left ventricular volumes mean difference 1.0-1.9 ml and 8.8-11.4%, respectively; right ventricular volumes 1.7-2.1 ml and 9.9-16.9%, respectively). No systematic bias was observed. 3-D cine MRI provides anatomic as well as functional information with sufficient spatial and temporal resolution in free-breathing infants with congenital heart disease. (orig.)

  13. Three-dimensional cine MRI in free-breathing infants and children with congenital heart disease

    International Nuclear Information System (INIS)

    Seeger, Achim; Fenchel, Michael C.; Kramer, Ulrich; Bretschneider, Christiane; Doering, Joerg; Claussen, Claus D.; Miller, Stephan; Martirosian, Petros; Sieverding, Ludger

    2009-01-01

    Patients with congenital heart disease frequently have complex cardiac and vascular malformations requiring detailed non-invasive diagnostic evaluation including functional parameters. To evaluate the morphological and functional information provided by a novel 3-D cine steady-state free-precession (SSFP) sequence. Twenty consecutive children (mean age 2.2 years, nine boys) were examined using a 1.5-T MR system including 2-D cine gradient-recalled-echo sequences, static 3-D SSFP and 3-D cine SSFP sequences. Measurement of ventricular structures and volumes showed close agreement between the 3-D cine SSFP sequence and the 2-D cine gradient-recalled-echo and static 3-D SSFP sequences (left ventricular volumes mean difference 1.0-1.9 ml and 8.8-11.4%, respectively; right ventricular volumes 1.7-2.1 ml and 9.9-16.9%, respectively). No systematic bias was observed. 3-D cine MRI provides anatomic as well as functional information with sufficient spatial and temporal resolution in free-breathing infants with congenital heart disease. (orig.)

  14. Incidence of Congenital Heart Diseases Anomalies in Newborns with Oral Clefts, Zahedan, Iran

    Directory of Open Access Journals (Sweden)

    Noor Mohammad Noori

    2016-09-01

    Full Text Available Background Oral cleft is the most common orofacial congenital anomaly among live births. This anomaly at birth is one of the main causes of children disability and mortality.  Congenital heart disease (CHD is one of the most common anomalies in oral clefts.  This study aimed to assess the incidence of congenital heart diseases anomalies in newborns with oral clefts. Materials and Methods This study performed on 48,692 live born to estimate incidence of oral clefts from 1 st December 2013 to 31 th November 2015 from three general hospitals in Zahedan, The capital city of the Sistan & Baluchestan  province, Iran. All oral cleft patients were under echocardiography to diagnosis the incidence of CHD as associated anomaly. The collected data were processed using SPSS-16. Results The results of the analysis showed that the incidence of cleft lip was higher in boys than girls, while the cleft palate was higher in girls. Lip/palate cleft was higher for boys.  Oral clefts patients accounted of 102 (0.2% with incidence rate of 2.095 per 1000 lives. Of 102 patients 19 (18.62%, 39(35.24% and 44(43.14% were oral lip, oral palate and both respectively. The incidence of CHD in patients with oral clefts was 26.5%, while the incidences for cleft lip, cleft palate and both were 15.79%, 20.51%, and 36.36% respectively. Conclusion From the study concluded that the rate of CHD among children with oral clefts was high compared with the healthy children.  Strongly is suggested the echocardiography for these patients to have early diagnostic of CHD to manage any life-threatening.

  15. 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

  16. 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

  17. Effects of eHealth physical activity encouragement in adolescents with complex congenital heart disease: The PReVaiL randomized clinical trial.

    Science.gov (United States)

    Klausen, Susanne Hwiid; Andersen, Lars L; Søndergaard, Lars; Jakobsen, Janus Christian; Zoffmann, Vibeke; Dideriksen, Kasper; Kruse, Anne; Mikkelsen, Ulla Ramer; Wetterslev, Jørn

    2016-10-15

    To assess benefit and harms of adding an eHealth intervention to health education and individual counseling in adolescents with congenital heart disease. Randomized clinical trial. Denmark. A total of 158 adolescents aged 13-16years with no physical activity restrictions after repaired complex congenital heart disease. PReVaiL consisted of individually tailored eHealth encouragement physical activity for 52weeks. All patients received 45min of group-based health education and 15min of individual counseling involving patients' parents. The primary outcome was maximal oxygen uptake (VO2 peak) at 52weeks after randomization. The secondary outcome was physical activity. Exploratory outcomes were generic and disease-specific questionnaires. In the intervention group, 58 patients (72%) completed the final test, but of those, only 46 (57%) fulfilled the compliance criteria of using the eHealth application for at least 2 consecutive weeks. In the control group, 61 patients (79%) completed both exercise tests. Adjusted for baseline values, the difference between the intervention group and the control group in mean VO2 peak at 1year was -0.65ml·kg(-1)·min(-1) (95% CI -2.66 to 1.36). Between-group differences at 1year in physical activity, generic health-related quality of life, and disease-specific quality of life were not statistically significant. Adding a tailored eHealth intervention to health education and individual counseling did not affect outcomes among adolescents with congenital heart disease. Our results do not support the use of this eHealth intervention in adolescents with complex congenital heart disease. Clinical trials.gov identifier: NCT01189981. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  18. Congenital toxoplasmosis transmitted by human immunodeficiency-virus infected women

    Directory of Open Access Journals (Sweden)

    Kátia Martins Lopes de Azevedo

    Full Text Available We report the occurrence of congenital toxoplasmosis in three infants born to HIV infected women who had high anti-toxoplasma IgG and negative IgM during pregnancy. We briefly reviewed available literature and discussed the possible transmission mechanisms of congenital toxoplasmosis among HIV infected pregnant women. Serum samples were tested for Toxoplasma gondii IgM and IgG antibodies using commercial enzyme immunoassay and IgG-avidity tests. In the first case, fetal death occurred at 28th week of gestation. In the second case, congenital toxoplasmosis was diagnosis at 6th month of life; and in the third case, an HIV-infected newborn, congenital toxoplasmosis was asymptomatic. These cases point out to the possibility of enhanced maternal-fetal transmission of T. gondii infection by HIV-infected women chronically infected, which may have important public health consequences, considering that increasing frequency of HIV-infection has been observed among women of childbearing age around the world.

  19. Demographic features of subjects with congenital glaucoma

    Science.gov (United States)

    Tamçelik, Nevbahar; Atalay, Eray; Bolukbasi, Selim; Çapar, Olgu; Ozkok, Ahmet

    2014-01-01

    Context: Congenital glaucoma is a potentially blinding ocular disease of the childhood. Identification of the possible associated risk factors and may be helpful for prevention or early detection of this public health problem. Aims: To demonstrate the demographic features of congenital glaucoma subjects. Setting and Design: The charts of congenital glaucoma patients referred to Tamcelik Glaucoma Center were retrospectively reviewed through the dates of 2000 and 2013. Materials and Methods: Analyzed data included diagnosis, age at first presentation, symptoms at first presentation, laterality of the disease, sex, presence of consanguinity, family history of congenital glaucoma, maturity of the fetus at delivery, and maternal age at conception. Statistical Analysis Used: Statistical Package for Social Sciences (SPSS) version 19.0 by IBM (SPSS Inc, Chicago, Illinois, USA) was used to compare the mean of continuous variables with Student's t-test and analysis of variance (ANOVA) and χ2 test was used to test differences in proportions of categorical variables. Results: The data of 600 eyes of 311 patients were analyzed. The distribution of primary and secondary congenital glaucoma among the patients were 63.3% (n = 197) and 36.7% (n = 114), respectively. Of the 311 patients, 57.2% (n = 178) were male and 42.8% (n = 133) were female. The overall frequency of bilateral disease was 92.3% (n = 287). Overall rate of consanguinity and positive family history was 45.3% (n = 141) and 21.2% (n = 66), respectively. Conclusions: Bilateral disease in this study was more common than previously reported studies. Positive family history was more frequent in primary congenital glaucoma although not statistically significant. PMID:24881602

  20. 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....

  1. The genetic landscape of familial congenital hydrocephalus.

    Science.gov (United States)

    Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

    2017-06-01

    Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

  2. Contemporary prevalence of pulmonary arterial hypertension in adult congenital heart disease following the updated clinical classification

    NARCIS (Netherlands)

    van Riel, Annelieke C. M. J.; Schuuring, Mark J.; van Hessen, Irene D.; Zwinderman, Aielko H.; Cozijnsen, Luc; Reichert, Constant L. A.; Hoorntje, Jan C. A.; Wagenaar, Lodewijk J.; Post, Marco C.; van Dijk, Arie P. J.; Hoendermis, Elke S.; Mulder, Barbara J. M.; Bouma, Berto J.

    2014-01-01

    The aging congenital heart disease (CHD) population is prone to develop a variety of sequelae, including pulmonary arterial hypertension (PAH). Previous prevalence estimates are limited in applicability due to the use of tertiary centers, or database encoding only. We aimed to investigate the

  3. Magnetic resonance imaging in congenital superior oblique palsy

    International Nuclear Information System (INIS)

    Sato, Miho; Kondo, Nagako; Awaya, Shinobu; Nomura, Hideki; Yagasaki, Teiji.

    1996-01-01

    MRI examinations were carried out on the defined congenital superior oblique palsy in order to distinguish the congenital and acquired palsies. Subjects were 19 patients diagnosed as congenital and their MRI images of 3 or 5 mm-thick coronary slice were taken. The volume of the oblique muscle was calculated from the images and a comparison was made between the diseased and healthy normal sides. The oblique muscle volume at the diseased side was found reduced in most of congenital superior oblique palsy patients. The reduction was observed even at childhood and was thus considered to be a malformation. Further, it is conceivable that the palsy could be caused by the abnormality in the central nervous system as well as by the present anatomical abnormality. (K.H.)

  4. Pacing and Defibrillators in Complex Congenital Heart Disease

    Science.gov (United States)

    Chubb, Henry; O’Neill, Mark; Rosenthal, Eric

    2016-01-01

    Device therapy in the complex congenital heart disease (CHD) population is a challenging field. There is a myriad of devices available, but none designed specifically for the CHD patient group, and a scarcity of prospective studies to guide best practice. Baseline cardiac anatomy, prior surgical and interventional procedures, existing tachyarrhythmias and the requirement for future intervention all play a substantial role in decision making. For both pacing systems and implantable cardioverter defibrillators, numerous factors impact on the merits of system location (endovascular versus non-endovascular), lead positioning, device selection and device programming. For those with Fontan circulation and following the atrial switch procedure there are also very specific considerations regarding access and potential complications. This review discusses the published guidelines, device indications and the best available evidence for guidance of device implantation in the complex CHD population. PMID:27403295

  5. Congenital cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Katarina Rednak-Paradiž

    2006-11-01

    Full Text Available Background: CMV is the most common agent that causes congenital virus infection. Only 10 % of infected children have symptomatic infection immediately after birth. Signs of central nervous system damage, neurosensory deafness and delayed psychomotor development may manifest as a result of asimptomatic congenital infection later in childhood. In the article we present basic properties of CMV; we describe clinical picture of the congenital infection and possibilities of diagnose and its treatment. We present five children with symptomatic congenital CMV infection that were hospitalized for the period 1992–2002 at the Neonatal department in the University Children’s Hospital in Ljubljana.Conclusions: Identification of infected neonates, especially those with asimptomatic congenital CMV infection, is difficult. Latest incidence of infection in Slovenia is unknown. With new investigations the efficiency of antiviral therapy was discovered but exact indications for therapy are not yet known. CMV vaccine, once available, may ultimately be the best control strategy for this important public health problem. Proper educating women in childbearing age about the risks of CMV and how to avoid disease transmission during pregnancy (hand washing, avoiding mouth-to-mouth contact with preschool children, usage of gloves especially when handling dipers or respiratory secretions are the only control strategies available.

  6. Congenital Toxoplasmosis: A Plea for a Neglected Disease.

    Science.gov (United States)

    Wallon, Martine; Peyron, François

    2018-02-23

    Maternal infection by Toxoplasma gondii during pregnancy may have serious consequences for the fetus, ranging from miscarriage, central nervous system involvement, retinochoroiditis, or subclinical infection at birth with a risk of late onset of ocular diseases. As infection in pregnant women is usually symptomless, the diagnosis relies only on serological tests. Some countries like France and Austria have organized a regular serological testing of pregnant women, some others have no prenatal program of surveillance. Reasons for these discrepant attitudes are many and debatable. Among them are the efficacy of antenatal treatment and cost-effectiveness of such a program. A significant body of data demonstrated that rapid onset of treatment after maternal infection reduces the risk and severity of fetal infection. Recent cost-effectiveness studies support regular screening. This lack of consensus put both pregnant women and care providers in a difficult situation. Another reason why congenital toxoplasmosis is disregarded in some countries is the lack of precise information about its impact on the population. Precise estimations on the burden of the disease can be achieved by systematic screening that will avoid bias or underreporting of cases and provide a clear view of its outcome.

  7. Congenital Toxoplasmosis: A Plea for a Neglected Disease

    Directory of Open Access Journals (Sweden)

    Martine Wallon

    2018-02-01

    Full Text Available Maternal infection by Toxoplasma gondii during pregnancy may have serious consequences for the fetus, ranging from miscarriage, central nervous system involvement, retinochoroiditis, or subclinical infection at birth with a risk of late onset of ocular diseases. As infection in pregnant women is usually symptomless, the diagnosis relies only on serological tests. Some countries like France and Austria have organized a regular serological testing of pregnant women, some others have no prenatal program of surveillance. Reasons for these discrepant attitudes are many and debatable. Among them are the efficacy of antenatal treatment and cost-effectiveness of such a program. A significant body of data demonstrated that rapid onset of treatment after maternal infection reduces the risk and severity of fetal infection. Recent cost-effectiveness studies support regular screening. This lack of consensus put both pregnant women and care providers in a difficult situation. Another reason why congenital toxoplasmosis is disregarded in some countries is the lack of precise information about its impact on the population. Precise estimations on the burden of the disease can be achieved by systematic screening that will avoid bias or underreporting of cases and provide a clear view of its outcome.

  8. Perfusion abnormalities in congenital and neoplastic pulmonary disease: comparison of MR perfusion and multislice CT imaging

    International Nuclear Information System (INIS)

    Boll, Daniel T.; Lewin, Jonathan S.; Young, Philip; Gilkeson, Robert C.; Siwik, Ernest S.

    2005-01-01

    The aim of this work was to assess magnetic resonance (MR) perfusion patterns of chronic, nonembolic pulmonary diseases of congenital and neoplastic origin and to compare the findings with results obtained with pulmonary, contrast-enhanced multislice computed tomography (CT) imaging to prove that congenital and neoplastic pulmonary conditions require MR imaging over the pulmonary perfusion cycle to successfully and directly detect changes in lung perfusion patterns. Twenty-five patients underwent concurrent CT and MR evaluation of chronic pulmonary diseases of congenital (n=15) or neoplastic (n=10) origin. Analysis of MR perfusion and contrast-enhanced CT datasets was realized by defining pulmonary and vascular regions of interest in corresponding positions. MR perfusion calculated time-to-peak enhancement, maximal enhancement and the area under the perfusion curve. CT datasets provided pulmonary signal-to-noise ratio measurements. Vessel centerlines of bronchial arteries were determined. Underlying perfusion type, such as pulmonary arterial or systemic arterial supply, as well as regions with significant variations in perfusion were determined statistically. Analysis of the pulmonary perfusion pattern detected pulmonary arterial supply in 19 patients; six patients showed systemic arterial supply. In pulmonary arterial perfusion, MR and multislice CT imaging consistently detected the perfusion type and regions with altered perfusion patterns. In bronchial arterial supply, MR perfusion and CT imaging showed significant perfusion differences. Patients with bronchial arterial supply had bronchial arteries ranging from 2.0 to 3.6 mm compared with submillimeter diameters in pulmonary arterial perfusion. Dynamic MR imaging of congenital and neoplastic pulmonary conditions allowed characterization of the pulmonary perfusion type. CT imaging suggested the presence of systemic arterial perfusion by visualizing hypertrophied bronchial arteries. (orig.)

  9. Clinical, demographic characteristics and results of the long term follow-up in adolescents and adults with congenital heart disease

    Directory of Open Access Journals (Sweden)

    I.G. Lebid

    2016-05-01

    Full Text Available The aim – to analyze clinical and demographic indicators in adolescents and adults with congenital heart disease (CHD to provide strategy of cardiac care for these patients, to assess risk of cardiological and cardiac surgery interventions in patients with congenital heart malformations. Materials and methods. 2569 consecutive patients, aged 16–88 years, mean age 24.14 ± 0.20 years, were selected in electronic database from April 01, 2011 to December 31, 2015. The majority (92.57 % of the included patients (n = 2378 were younger than 40 years. Results. Among all CHD patients, a significant majority had septal defects (39 % and left heart lesions (24 %, followed by congenital lesions of thoracic arteries and veins (16 % and right heart lesions (10 %. The annual number of the examined patients with CHD progressively increased (from 210 in 2011 to 656 in 2015. The number of patients aged 18 years or older mostly increased. The number of patients older than 40 years increased from nine patients in 2011 to 75 adults in 2015. Patients after cardiac surgery and percutaneous transcatheter interventions dominated (n=1553, 60.45 %, compared to the patients without any interventions for CHD (n = 1016, 39.55 %. Only one intervention for CHD was performed in the majority of these patients (n = 1255, 80.81 %, 12.94 % needed two interventions, 3.99 % – three, 2.26 % – three or more interventions. Conclusions. Among patients with congenital heart disease, patients younger than 40 years old were prevalent (92.57 %, with no significant gender differences. Septal defects (ASD, VSD, left heart lesions (congenital aortic valve stenosis and insufficiency, congenital lesions of thoracic arteries and veins (patent ductus arteriosus and aorta coarctation were registered most often in adolescents and adults.

  10. Explanatory Value of the Ability Index as Assessed by Cardiologists and Patients with Congenital Heart Disease

    DEFF Research Database (Denmark)

    Schrader, Anne-Marie Voss; Lisby, Karen H; King, Catriona

    2012-01-01

    Introduction.  The Ability Index was developed to classify patients with congenital heart disease into four functional classes. Functional class is typically determined by the cardiologist, based on data from a clinical interview. The validity of the Ability Index as assessed by the patient has...

  11. Congenital syphilis as a notifiable disease

    African Journals Online (AJOL)

    in incomplete abortions, and there were 2 (0,96%) ... Congenital syphilis is a significant health problem in South ... and the effectiveness of the programme in terms of ... Subjects and methods ... may be that the admitting staff failed adequately to ... Population Development No notifications were received from areas not merr.

  12. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

    Czeizel, A.E.; Rockenbauer, M.; Sørensen, Henrik Toft

    2001-01-01

    or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use......Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  13. Neurotrophins expression is decreased in lungs of human infants with congenital diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    O'Hanlon LD

    2014-02-01

    Full Text Available Lynn D O'Hanlon, Sherry M Mabry, Ikechukwu I EkekezieChildren's Mercy Hospitals/University of Missouri-Kansas City School of Medicine, Department of Pediatrics, Section of Neonatal-Perinatal Medicine, Kansas City, MO, USAObjectives: To evaluate neurotrophin (NT (nerve growth factor [NGF], NT-3, and brain-derived neurotrophic factor [BDNF] expression in autopsy lung tissues of human congenital diaphragmatic hernia (CDH infants versus that of infants that expired with: 1 "normal" lungs (controls; 2 chronic lung disease (CLD; and 3 pulmonary hypertension (PPHN.Hypothesis: NT expression will be significantly altered in CDH lung tissue compared with normal lung tissue and other neonatal lung diseases.Study design: Immunohistochemical studies for NT proteins NGF, BDNF, and NT-3 were applied to human autopsy neonatal lung tissue samples.Subject selection: The samples included a control group of 18 samples ranging from 23-week gestational age to term, a CDH group of 15 samples, a PPHN group of six samples, and a CLD group of 12 samples.Methodology: The tissue samples were studied, and four representative slide fields of alveoli/saccules and four of bronchioles were recorded from each sample. These slide fields were then graded (from 0 to 3 by three blinded observers for intensity of staining.Results: BDNF, NGF, and NT-3 immunostaining intensity scores were significantly decreased in the CDH lung tissue (n=15 compared with normal neonatal lung tissue (n=18 (P<0.001. The other neonatal pulmonary diseases that were studied, CLD and PPHN, were much less likely to be affected and were much more variable in their neurotrophin expression.Conclusion: NT expression is decreased in CDH lungs. The decreased expression of NT in CDH lung tissue may suggest they contribute to the abnormality in this condition.Keywords: nerve growth factor, NGF, brain-derived neurotrophic factor, BDNF, neurotrophin-3, NT-3, chronic lung disease, persistent pulmonary hypertension, lung

  14. Prevalence of overweight and obesity among patients with congenital and acquired heart disease in Kocaeli, Turkey.

    Science.gov (United States)

    Babaoğlu, Kadir; Deveci, Murat; Kayabey, Özlem; Altun, Gürkan; Binnetoğlu, Köksal

    2015-03-01

    Childhood obesity has increased in the last half of the century. The aim of this study was to evaluate the frequency of obesity in the children with congenital or acquired heart disease. A total of 1410 children were assessed in this study. The study population was composed of 518 children (289 boys, 229 girls) as control group and 892 children (477 boys, 415 girls) as heart disease group. Patients were grouped into four categories: (I) "Clinic control subjects"; (II) "mild heart disease" that has not been treated with either surgical or catheter intervention; (III) congenital heart disease treated with surgical and/or catheter intervention; and (IV) "arrhythmias". A body mass index ⩾85th percentile was defined as overweight, ⩾95th percentile as obese, and heart disease and obesity. There was no difference in the rates of overweight, obesity, and underweight between the healthy control subjects and patients with heart disease (8.1%, 13.3%, and 5.0%; 9.0%, 10.7%, and 4.7%, respectively, p=0.145). All subgroups had a similar prevalence of underweight, overweight, and obesity as the healthy control population. Within the heart disease population, the overall prevalence rates for overweight, obesity, and underweight were similar between the boys and girls. Obesity is a common problem in children with heart disease, at least in general population. It is an important additional risk factor for long-term cardiovascular morbidity and mortality in children with heart disease. Precautions to prevent obesity should be a part of paediatric cardiologist's examination.

  15. Neonatal outcomes and congenital malformations in children born after human menopausal gonadotropin and medroxyprogesterone acetate treatment cycles.

    Science.gov (United States)

    Zhang, Jie; Mao, Xiaoyan; Wang, Yun; Chen, Qiuju; Lu, Xuefeng; Hong, Qingqing; Kuang, Yanping

    2017-12-01

    To investigate neonatal outcomes and congenital malformations in children born after in vitro fertilization (IVF) and vitrified embryo transfer cycles using human menopausal gonadotrophin and medroxyprogesterone acetate (hMG + MPA) treatment. We performed a retrospective cohort study including 4596 live born babies. During January 2014-June 2016, children born after either hMG + MPA treatment, gonadotropin releasing hormone agonist short protocol, or mild ovarian stimulation were included. The main outcome measures were neonatal outcomes and congenital malformations. Neonatal outcomes both for singletons and twins such as mean birth weight and length, gestational age, the frequency of preterm birth were comparable between groups. Rate of stillbirth and perinatal death were also similar. No significant differences were found in the overall incidence of congenital malformations between the three groups. Multivariable logistic regression indicated that hMG + MPA regimen did not significantly increase the risk of congenital malformations compared with short protocol and mild ovarian stimulation, with adjusted odds ratio of 1.22 [95% confidence interval (CI) 0.61-2.44] and 1.38 (CI 0.65-2.93), respectively, after adjusting for confounding factors. Our data suggested that compared with conventional ovarian stimulations, hMG + MPA treatment neither compromised neonatal outcomes of IVF newborns, nor did increase the prevalence of congenital malformations.

  16. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... Topic: Hypoglycemia Health Topic: Metabolic Disorders Genetic and Rare Diseases Information Center (1 link) Congenital hyperinsulinism Educational Resources (7 links) Boston Children's Hospital: Hypoglycemia and Low Blood Sugar in Children Cook Children's Hospital (PDF) Disease InfoSearch: ...

  17. Management of patients with pulmonary arterial hypertension due to congenital heart disease: recent advances and future directions

    NARCIS (Netherlands)

    Blok, Ilja M.; van Riel, Annelieke C. M. J.; Mulder, Barbara J. M.; Bouma, Berto J.

    2015-01-01

    Pulmonary arterial hypertension is a serious complication of adult congenital heart disease associated with systemic-to-pulmonary shunts. Although early shunt closure restricts development of pulmonary arterial hypertension, patients remain at risk even after repair. The development of pulmonary

  18. Human lipodystrophies: genetic and acquired diseases of adipose tissue

    Science.gov (United States)

    Capeau, Jacqueline; Magré, Jocelyne; Caron-Debarle, Martine; Lagathu, Claire; Antoine, Bénédicte; Béréziat, Véronique; Lascols, Olivier; Bastard, Jean-Philippe; Vigouroux, Corinne

    2010-01-01

    Human lipodystrophies represent a heterogeneous group of diseases characterized by generalized or partial fat loss, with fat hypertrophy in other depots when partial. Insulin resistance, dyslipidemia and diabetes are generally associated, leading to early complications. Genetic forms are uncommon: recessive generalized congenital lipodystrophies result in most cases from mutations in the genes encoding seipin or the 1-acyl-glycerol-3-phosphate-acyltransferase 2 (AGPAT2). Dominant partial familial lipodystrophies result from mutations in genes encoding the nuclear protein lamin A/C or the adipose transcription factor PPARγ. Importantly, lamin A/C mutations are also responsible for metabolic laminopathies, resembling the metabolic syndrome and progeria, a syndrome of premature aging. A number of lipodystrophic patients remain undiagnosed at the genetic level. Acquired lipodystrophy can be generalized, resembling congenital forms, or partial, as the Barraquer-Simons syndrome, with loss of fat in the upper part of the body contrasting with accumulation in the lower part. Although their aetiology is generally unknown, they could be associated with signs of auto-immunity. The most common forms of lipodystrophies are iatrogenic. In human immunodeficiency virus-infected patients, some first generation antiretroviral drugs were strongly related with peripheral lipoatrophy and metabolic alterations. Partial lipodystrophy also characterize patients with endogenous or exogenous long-term corticoid excess. Treatment of fat redistribution can sometimes benefit from plastic surgery. Lipid and glucose alterations are difficult to control leading to early occurrence of diabetic, cardio-vascular and hepatic complications. PMID:20551664

  19. Clinical implications of eicosapentaenoic acid/arachidonic acid ratio (EPA/AA) in adult patients with congenital heart disease.

    Science.gov (United States)

    Kanoh, Miki; Inai, Kei; Shinohara, Tokuko; Tomimatsu, Hirofumi; Nakanishi, Toshio

    2017-12-01

    Recent studies showed that a low ratio between the levels of eicosapentaenoic acid and those of arachidonic acid (EPA/AA) is associated with higher incidence of coronary artery disease and poor prognosis of heart failure, arrhythmia, and cardiac sudden death. However, the clinical implications of EPA/AA in adult patients with congenital heart disease remain unclear. We aimed to assess the prognostic value of EPA/AA regarding cardiac events in adult patients with congenital heart disease. We measured the serum levels of eicosapentaenoic acid and arachidonic acid in 130 adult patients (median age, 31 years) stratified into two groups according to their EPA/AA (low, ≤0.22; high, >0.22). We prospectively analyzed the association between EPA/AA and incidence of cardiac events during a mean observation period of 15 months, expressed in terms of hazard ratio (HR) with 95% confidence interval (95% CI). In the subgroup of patients with biventricular circulation (2VC) (n = 76), we analyzed the same clinical endpoints. In our study population, EPA/AA was not associated with the incidence of arrhythmic events (HR, 1.52; 95% CI, 0.82-2.85; p = 0.19), but low EPA/AA was a predictor of heart failure hospitalization (HR, 2.83; 95% CI, 1.35-6.30; p AA of ≤0.25 was associated with a significantly higher risk of arrhythmic events (HR, 2.55; 95% CI, 1.11-6.41; p = 0.03) and heart failure hospitalization (HR, 5.20; 95% CI, 1.78-18.1; p AA represents a useful predictor of cardiac events in adult patients with congenital heart disease.

  20. [Optimization of postoperative medical therapy of infective endocarditis in patients with congenital valvular heart disease].

    Science.gov (United States)

    Chistyakov, I S; Medvedev, A P; Pichugin, V V

    2016-01-01

    The purpose of this study was to evaluate the effectiveness of combined surgical and medical treatment of infective endocarditis in patients with congenital valvular heart disease when included in a regimen of the drug Reamberin. In this regard, the analysis of the effectiveness of a combination regimen of 74 patients with valvular congenital heart diseases complicated with infective endocarditis. Given the indications for surgical correction operative technique features and possible technical difficulties in carrying out such operations, due to the inflammatory changes and tissue destruction, and ways to overcome them. For the correction of metabolic disorders in the postoperative period, 47 patients (main group) was appointed Reamberin: once, intravenous drip 400 ml/day during the first 5 days after surgery. 27 patients (control group) was conducted infusion therapy depending on the severity of the condition according to the classical scheme. In addition to standard clinical and laboratory examination, to assess the effectiveness of Reamberin was investigated catalase activity of CPK in blood serum in the dynamics of observation (1, 3 and 5 days after surgery). It is revealed that surgical approach, used in complex treatment of patients with valvular congenital heart diseases, including reorganization of the cavities of the heart, increasing the frequency of joints and the use of reinforcing strips of synthetic material that prevents the cutting of sutures through the inflamed tissue has achieved good short-and long-term results. Infective endocarditis and destruction of the valvular annulus fibrosus the use of a frame of strips of polytetrafluoroethylene allows you to restore its integrity and to implant a mechanical prosthesis. The inclusion in the regimen of patients with infective endocarditis complicated by cardiac insufficiency in the early postoperative period the drug Reamberin improves the efficiency of treatment by a more rapid restoration of the normal

  1. Should MR imaging be used as the first line of investigation in adult congenital heart disease

    International Nuclear Information System (INIS)

    Sivananthan, M.U. Jr.; Rees, M.R.; Verma, S.P.; Gundroo, G.M.; Ridgway, J.; Bann, K. Jr.

    1991-01-01

    This paper investigates the adequacy of MR imaging in the display of anatomy and flow in adult congenital heart disease. Seventeen adult patients with congenital heart disease were studied with a 1-T Siemens Magnatom imager. Gated spin-echo images in three orthogonal as well as selected oblique planes and gradient cine angiographic images were obtained. The results were compared with the results of echocardiography and conventional angiography. There were 9 patients with coarctation of the aorta, 3 of which were postoperative studies. MR images were adequate in the postoperative cases, and the need for angiography was avoided. Seven additional lesions (2 atrial septal defects (ASD), 2 ventricular septal defects (VSD), and 3 bicuspid aortic valves) were demonstrated that were not demonstrated with echocardiography. Four postoperative Blalock shunts were evaluated, which could not be catheterized with echocardiography (2 occlusions, 2 stenoses), and additional flow and anatomic information of the pulmonary vasculature was obtained. In the other 5 cases, 5 additional lesions were demonstrated compared with echocardiography

  2. 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

  3. Leadless pacemaker implantation in a patient with complex congenital heart disease and limited vascular access

    Directory of Open Access Journals (Sweden)

    Paolo Ferrero

    2016-11-01

    Full Text Available Management of rhythm related issues might be particularly challenging in patients with congenital heart disease due to complex anatomy and restricted vascular access. The leadless technology appears a suitable and attractive alternative for this population. We describe a patient with single ventricle physiology who successfully underwent implantation of a leadless pacemaker.

  4. 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.)

  5. Forkhead box transcription factors in embryonic heart development and congenital heart disease.

    Science.gov (United States)

    Zhu, Hong

    2016-01-01

    Embryonic heart development is a very complicated process regulated precisely by a network composed of many genes and signaling pathways in time and space. Forkhead box (Fox, FOX) proteins are a family of transcription factors characterized by the presence of an evolutionary conserved "forkhead"or "winged-helix" DNA-binding domain and able to organize temporal and spatial gene expression during development. They are involved in a wide variety of cellular processes, such as cell cycle progression, proliferation, differentiation, migration, metabolism and DNA damage response. An abundance of studies in model organisms and systems has established that Foxa2, Foxc1/c2, Foxh1 and Foxm1, Foxos and Foxps are important components of the signaling pathways that instruct cardiogenesis and embryonic heart development, playing paramount roles in heart development. The previous studies also have demonstrated that mutations in some of the forkhead box genes and the aberrant expression of forkhead box gene are heavily implicated in the congenital heart disease (CHD) of humans. This review primarily focuses on the current understanding of heart development regulated by forkhead box transcription factors and molecular genetic mechanisms by which forkhead box factors modulate heart development during embryogenesis and organogenesis. This review also summarizes human CHD related mutations in forkhead box genes as well as the abnormal expression of forkhead box gene, and discusses additional possible regulatory mechanisms of the forkhead box genes during embryonic heart development that warrant further investigation. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. The Burden of Care: Mothers' Experiences of Children with Congenital Heart Disease.

    Science.gov (United States)

    Sabzevari, Sakinne; Nematollahi, Monirsadat; Mirzaei, Tayebeh; Ravari, Ali

    2016-10-01

    Mothers play a key role in caring for their sick children. Their experiences of care were influenced by culture, rules, and the system of health and care services. There are few studies on maternal care of children with congenital heart disease. Also, each of them has studied a particular aspect of care. The present research aimed to understand care experiences of mothers of children with congenital heart disease. A conventional content analysis was used to obtain rich data. The goal of content analysis is "to provide knowledge and deeper understanding of the phenomenon under the study". The study was conducted in Kerman, Iran in 2014, on mothers of children with CHD. The purposive sampling technique was used to select the participants. Participants were 14 mothers of children with CHD and one father and one nurse of open heart surgery unit, from two hospitals affiliated with Kerman University of Medical Sciences. Eighteen semi-structured interviews were constructed. Data were analyzed using conventional content analysis. MAXQDA 2007 software (VERBI GmbH, Berlin, Germany) was used to classify and manage the coding. Constant comparative method was done for data analysis. The reliability and validity of the findings, including the credibility, confirm ability, dependability, and transferability, were assessed. According to the content analysis, the main theme was the catastrophic burden of child care on mothers that included three categories: 1) the tension resulting from the disease, 2) involvement with internal thoughts, and 3) difficulties of care process. The results of this study may help health care professionals to provide supportive and educational packages to the patients, mothers and Family members until improving the management of patient's care.

  7. Congenital spinal malformations

    International Nuclear Information System (INIS)

    Ertl-Wagner, B.B.; Reiser, M.F.

    2001-01-01

    Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [de

  8. Effect of Gastrointestinal Malformations on the Outcomes of Patients With Congenital Heart Disease.

    Science.gov (United States)

    Mery, Carlos M; De León, Luis E; Rodriguez, J Rubén; Nieto, R Michael; Zhang, Wei; Adachi, Iki; Heinle, Jeffrey S; Kane, Lauren C; McKenzie, E Dean; Fraser, Charles D

    2017-11-01

    The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group. Patients were matched by diagnosis, procedure, history of prematurity, presence of genetic syndrome, and a propensity score including weight and year of operation. The cohort included 383 patients: 52 (14%) with thoracic GI malformations and 98 (25%) thoracic GI controls, 80 (21%) with abdominal GI malformations and 153 (40%) abdominal GI controls. Median follow-up was 6 years (range, 16 days to 20 years). Patients with thoracic GI malformations had longer length of stay (p malformations and controls. Patients with thoracic GI malformations have worse perioperative outcomes than controls, but their long-term survival does not seem to be significantly different. Abdominal GI malformations do not have a significant effect on outcomes. The presence of GI malformations should likely not preclude patients from undergoing congenital heart operations, but careful family counseling is necessary, especially for thoracic GI malformations. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  9. Autosomal recessive polycystic kidney disease and congenital hepatic fibrosis (ARPKD/CHF)

    Energy Technology Data Exchange (ETDEWEB)

    Turkbey, Baris; Choyke, Peter L. [National Institutes of Health, Molecular Imaging Program, National Cancer Institute, Bethesda, MD (United States); Ocak, Iclal [National Institutes of Health, Molecular Imaging Program, National Cancer Institute, Bethesda, MD (United States); University of Pittsburgh Medical Center, Department of Radiology, Pittsburgh, PA (United States); Daryanani, Kailash [National Institutes of Health, Clinical Center, Department of Radiology, Bethesda, MD (United States); Font-Montgomery, Esperanza; Lukose, Linda; Bryant, Joy; Tuchman, Maya; Gahl, William A. [National Institutes of Health, National Human Genome Research Institute, Medical Genetics Branch, Bethesda, MD (United States); Mohan, Parvathi [George Washington University, Department of Pediatric Gastroenterology, Washington, DC (United States); Heller, Theo [National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases, Bethesda, MD (United States); Gunay-Aygun, Meral [National Institutes of Health, National Human Genome Research Institute, Medical Genetics Branch, Bethesda, MD (United States); National Institutes of Health, Intramural Program, Office of Rare Diseases, Office of the Directors, Bethesda, MD (United States)

    2009-02-15

    ARPKD/CHF is an inherited disease characterized by non-obstructive fusiform dilatation of the renal collecting ducts leading to enlarged spongiform kidneys and ductal plate malformation of the liver resulting in congenital hepatic fibrosis. ARPKD/CHF has a broad spectrum of clinical presentations involving the kidney and liver. Imaging plays an important role in the diagnosis and follow-up of ARPKD/CHF. Combined use of conventional and high-resolution US with MR cholangiography in ARPKD/CHF patients allows detailed definition of the extent of kidney and hepatobiliary manifestations without requiring ionizing radiation and contrast agents. (orig.)

  10. Tumor disease and associated congenital abnormalities on prenatal MRI.

    Science.gov (United States)

    Nemec, Stefan F; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L; Graham, John M; Prayer, Daniela

    2012-02-01

    Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head-neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  11. Tumor disease and associated congenital abnormalities on prenatal MRI

    International Nuclear Information System (INIS)

    Nemec, Stefan F.; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C.; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L.; Graham, John M. Jr.; Prayer, Daniela

    2012-01-01

    Objective: Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. Materials and methods: This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. Results: There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head–neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Conclusion: Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases.

  12. Functional Analyses of a Novel CITED2 Nonsynonymous Mutation in Chinese Tibetan Patients with Congenital Heart Disease.

    Science.gov (United States)

    Liu, Shiming; Su, Zhaobing; Tan, Sainan; Ni, Bin; Pan, Hong; Liu, Beihong; Wang, Jing; Xiao, Jianmin; Chen, Qiuhong

    2017-08-01

    CITED2 gene is an important cardiac transcription factor that plays a fundamental role in the formation and development of embryonic cardiovascular. Previous studies have showed that knock-out of CITED2 in mice might result in various cardiac malformations. However, the mechanisms of CITED2 mutation on congenital heart disease (CHD) in Chinese Tibetan population are still poorly understood. In the present study, 187 unrelated Tibetan patients with CHD and 200 unrelated Tibetan healthy controls were screened for variants in the CITED2 gene; we subsequently identified one potential disease-causing mutation p.G143A in a 6-year-old girl with PDA and functional analyses of the mutation were carried out. Our study showed that the novel mutation of CITED2 significantly enhanced the expression activity of vascular endothelial growth factor (VEGF) under the role of co-receptor hypoxia inducible factor 1-aipha (HIF-1A), which is closely related with embryonic cardiac development. As a result, CITED2 gene mutation may play a significant role in the development of pediatric congenital heart disease.

  13. Effect of exercise training on sports enjoyment and leisure-time spending in adolescents with complex congenital heart disease: the moderating effect of health behavior and disease knowledge

    NARCIS (Netherlands)

    Dulfer, Karolijn; Duppen, Nienke; Blom, Nico A.; van Dijk, Arie P. J.; Helbing, Wim A.; Verhulst, Frank C.; Utens, Elisabeth M. W. J.

    2014-01-01

    The aim of this study was to evaluate the effects of a standardized exercise program on sports enjoyment and leisure-time spending in adolescents with congenital heart disease and to know what the moderating impact of their baseline health behavior and disease knowledge is. Included were 93

  14. Real-time three dimensional CT and MRI to guide interventions for congenital heart disease and acquired pulmonary vein stenosis.

    Science.gov (United States)

    Suntharos, Patcharapong; Setser, Randolph M; Bradley-Skelton, Sharon; Prieto, Lourdes R

    2017-10-01

    To validate the feasibility and spatial accuracy of pre-procedural 3D images to 3D rotational fluoroscopy registration to guide interventional procedures in patients with congenital heart disease and acquired pulmonary vein stenosis. Cardiac interventions in patients with congenital and structural heart disease require complex catheter manipulation. Current technology allows registration of the anatomy obtained from 3D CT and/or MRI to be overlaid onto fluoroscopy. Thirty patients scheduled for interventional procedures from 12/2012 to 8/2015 were prospectively recruited. A C-arm CT using a biplane C-arm system (Artis zee, VC14H, Siemens Healthcare) was acquired to enable 3D3D registration with pre-procedural images. Following successful image fusion, the anatomic landmarks marked in pre-procedural images were overlaid on live fluoroscopy. The accuracy of image registration was determined by measuring the distance between overlay markers and a reference point in the image. The clinical utility of the registration was evaluated as either "High", "Medium" or "None". Seventeen patients with congenital heart disease and 13 with acquired pulmonary vein stenosis were enrolled. Accuracy and benefit of registration were not evaluated in two patients due to suboptimal images. The distance between the marker and the actual anatomical location was 0-2 mm in 18 (64%), 2-4 mm in 3 (11%) and >4 mm in 7 (25%) patients. 3D3D registration was highly beneficial in 18 (64%), intermediate in 3 (11%), and not beneficial in 7 (25%) patients. 3D3D registration can facilitate complex congenital and structural interventions. It may reduce procedure time, radiation and contrast dose.

  15. Cardiac magnetic resonance imaging in patients with congenital heart disease

    International Nuclear Information System (INIS)

    Kreitner, Karl-Friedrich; Sorantin, Erich

    2015-01-01

    The prevalence of congenital heart disease (CHD) is around 10 per 1000 live births in Germany. More than 90 % of these patients will survive into adulthood due to improvements in therapy. The classification of CHD may be based according to the anatomic structures involved, to the presence of an intracardiac shunt, the presence of a cyanosis and the intensity of therapy and complexity of the disease. Nearly half of all patients with CHD suffer from an intracardiac shunt, whereas complex cases such as patients with a tetralogy of Fallot or transposition of the great arteries are much more rare. Cardiac magnetic resonance imaging plays an important role in the work-up and follow-up of patients with CHD, especially after infancy and childhood. Depending on the abnormality in question, a multiparametric examination protocol is mandatory. Knowledge of operative procedures and findings of other imaging modalities help to optimize examination and time needed for it.

  16. Genetic and environmental risk factors in congenital heart disease functionally converge in protein networks driving heart development

    DEFF Research Database (Denmark)

    Hansen, Kasper Lage; Greenway, Steven C.; Rosenfeld, Jill A.

    2012-01-01

    Congenital heart disease (CHD) occurs in ∼1% of newborns. CHD arises from many distinct etiologies, ranging from genetic or genomic variation to exposure to teratogens, which elicit diverse cell and molecular responses during cardiac development. To systematically explore the relationships between...

  17. Congenital self-healing reticulohistiocytosis - an important diagnostic challenge

    DEFF Research Database (Denmark)

    Jensen, Marie Louise Slott; Bygum, Anette; Clemmensen, Ole

    2011-01-01

    Aim:  To present current and new knowledge on congenital self-healing reticulohistiocytosis, a benign variant of cutaneous Langerhans cell histiocytosis presenting with skin lesions in the neonatal period. Methods:  We describe and photo document two cases of this rare disease and review the lite......Aim:  To present current and new knowledge on congenital self-healing reticulohistiocytosis, a benign variant of cutaneous Langerhans cell histiocytosis presenting with skin lesions in the neonatal period. Methods:  We describe and photo document two cases of this rare disease and review...... the literature. Results:  Only few newborns have acute access to a neonatal dermatologist and we demonstrate how the spontaneous cutaneous involution may happen even prior to the first dermatological assessment. As no sole criterion can reliably distinguish the self-healing form from disseminated disease......, multidisciplinary assessment and follow up are essential. Conclusion:  Our data document how easily the diagnosis congenital self-healing reticulocytosis may be missed and emphasize the importance and value of instant clinical photographing at the neonatal unit and the use of teledermatology whenever congenital...

  18. 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.

  19. Congenital hepatic fibrosis associated with von Recklinghausen's disease Fibrosis hepática congénita asociada a enfermedad de von Recklinghausen

    Directory of Open Access Journals (Sweden)

    O. A. Jorge

    2006-09-01

    Full Text Available Congenital hepatic fibrosis is characterized by a ductal plate malformation with duct-like structures and fibrosis. It manifests clinically with portal hypertension and may be associated with multiple congenital defects. We present the case of a 16-year-old male with splenomegaly, leukopenia and thrombocytopenia, esophageal varices, and a histopathological diagnosis of congenital hepatic fibrosis. He exhibits "café au lait' spots and "Lisch' nodules, with a diagnosis of von Recklinghausen's disease. Congenital hepatic fibrosis belongs to the so-called fibropolycystic diseases, in which there is a disordered interaction between cells and the extracellular matrix. Von Recklinghausen's disease affects tissues derived from the neural crest and its diagnosis is based on clinical criteria. It is associated with multiple diseases. We describe its association with congenital hepatic fibrosis for the first time.La fibrosis hepática congénita se origina como consecuencia de una malformación de la placa ductal con estructuras tipo ductales acompañadas de fibrosis. Se manifiesta con hipertensión portal y puede asociarse a múltiples defectos congénitos. Presentamos un varón de 16 años con esplenomegalia, leuco- y plaquetopenia, varices esofágicas y diagnóstico histopatológico de fibrosis hepática congénita. La exploración física mostraba la existencia de manchas de "café con leche' y nódulos de "Lisch' con diagnóstico de enfermedad de von Recklinghausen. La fibrosis hepática congénita forma parte de las enfermedades fibropoliquísticas donde existiría una alteración en la interacción entre las células y la matriz extracelular. La enfermedad de von Recklinghausen afecta a los tejidos derivados de la cresta neural y su diagnóstico se basa en criterios clínicos. Se asocia a múltiples patologías. Presentamos por primera vez su asociación con fibrosis hepática congénita.

  20. Prevalence of obesity among patients with congenital and acquired heart disease.

    Science.gov (United States)

    Shustak, Rachel J; McGuire, Sharda B; October, Tessie W; Phoon, Colin K L; Chun, Anne J L

    2012-01-01

    Overweight and obesity rates have risen dramatically in the United States, with subsequent detrimental comorbidity risks. The rates for obesity among children with congenital and acquired heart disease have rarely been reported. A retrospective cross-sectional study was conducted to determine the prevalence of overweight and obesity in children with heart disease and to identify subgroups at increased risk. A total of 795 cases were identified from a chart review of patients presenting to an urban center's Pediatric Cardiology Program between 1 January and 31 December 2006. A body mass index (BMI) at the 85th percentile or higher was defined as overweight, and a BMI at the 95th percentile or higher was defined as obese. Subjects with comorbidities affecting body habitus were excluded from the study. Overall, overweight and obesity rates were similar to national data. No significant differences in overweight or obesity rates were detected between heart disease and non-heart disease groups (P = 0.50). According to multivariate analysis, Hispanic ethnicity and male gender were the only predictors of obesity. This study shows that children with heart disease are not immune to the common predictors of obesity such as gender and ethnicity and that the future care of children with heart disease should include general discussions about the risks for obesity.

  1. Treatment of Children with Protein – Losing Enteropathy After Fontan and Other Complex Congenital Heart Disease Procedures in Condition with Limited Human and Technical Resources

    Science.gov (United States)

    Bejiqi, Ramush; Retkoceri, Ragip; Zeka, Naim; Bejiqi, Hana; Vuqiterna, Armend; Maloku, Arlinda

    2014-01-01

    Background Protein-losing enteropathy (PLE) is a disorder characterized by abnormal and often profound enteric protein loss. It’s relatively uncommon complication of Fontan and other complex congenital heart disease (CCHD) procedures. Because of the complexity and rarity of this disease process, the pathogenesis and pathophysiology of protein-losing enteropathy remain poorly understood, and attempts at treatment seldom yield long-term success. Aim of presentation is to describe single centre experience in diagnosis, evaluation, management and treatment of children with protein-losing enteropathy after Fontan and other CCHD procedures in the current era and in centre with limited human and technical resources, follows with a comprehensive review of protein-losing enteropathy publications, and concludes with suggestions for prevention and treatment. Material and methodology Retrospectively we analyzed patients with CCHD and protein-losing enteropathy in our institution, starting from January 2000 to December 2012. The including criteria were age between two and 17 years, to have a complex congenital heart disease and available complete documentation of cardiac surgery under cardiopulmonary bypass. Results Of all patients we evaluated 18 cases with protein-losing enteropathy, aged 6 to 19 years (mean 14±9); there were three children who had undergone screening procedure for D-transposition, one Tetralogy of Fallot, and remaining 14 patients had undergone Fontan procedures; (anatomic diagnosis are: six with tricuspid atresia, seven with d-transposition, double outlet right ventricle and pulmonary atresia and two with hypoplastic left heart syndrome). The diagnosis of protein-losing enteropathy was made at median age of 5.6 years, ranging from 13 months to 15 years. Diagnosis was made using alpha 1-antitrypsin as a gold marker in stool. By physical examination in 14 patients edema was found, in three ascites, and six patients had pleural effusion. Laboratory findings

  2. 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

  3. Lung perfusion scintigraphy in congenital heart disease

    International Nuclear Information System (INIS)

    Sugimura, Hiroshi; Nagamachi, Shigeki; Hoshi, Hiroaki; Jinnouchi, Seishi; Oonishi, Takashi; Futami, Shigemi; Watanabe, Katsushi

    1990-01-01

    Lung perfusion scintigrams were reviewed retrospectively in 28 patients with congenital heart disease, whose ages ranged from the first year to 16 years with an average age of 5 years and 6 months. Seventy four MBq (2 mCi), 111 MBq (2 mCi), and 185 MBq (5 mCi) of Tc-99m macroaggregated albumin were iv injected in the age groups of 0-3, 4-11, and more than 11 years, respectively. Five minutes later, images were obtained in six projections. Abnormal findings on lung perfusion scintigrams were observed in 13 patients (46%). Of these patients, 8 (29%) had a partially decreased blood flow and 5 (17%) had a decreased blood flow in the unilateral lung. No significant difference in the occurrence of abnormal findings was observed among the age groups, although they tended to occur in younger patients. Sex, underlying conditions, and hemodynamics were also independent of scintigraphically abnormal findings. Even when classifying the patients as having either cyanotic or non-cyanotic heart disease, no significant difference in hemodynamics was observed between the group of abnormal findings and the group of normal findings. Pulmonary arteriography available in all patients failed to reveal abnormal findings, with the exception of pulmonary artery stenosis in 2 patients that corresponded to a decreased blood flow in the unilateral lung. Pulmonary artery stenosis seemed to be responsible for abnormal pulmonary blood flow, although other causes remained uncertain. (N.K.)

  4. Retrospective review of congenital heart disease in 976 dogs.

    Science.gov (United States)

    Oliveira, P; Domenech, O; Silva, J; Vannini, S; Bussadori, R; Bussadori, C

    2011-01-01

    Knowledge of epidemiology is important for recognition of cardiovascular malformations. Review the incidence of congenital heart defects in dogs in Italy and assess breed and sex predispositions. Nine hundred and seventy-six dogs diagnosed with congenital heart disease (CHD) of 4,480 dogs presented to Clinica Veterinaria Gran Sasso for cardiovascular examination from 1997 to 2010. A retrospective analysis of medical records regarding signalment, history, clinical examination, radiography, electrocardiography, echocardiography, angiography, and postmortem examination was performed. Breed and sex predisposition were assessed with the odds ratio test. CHD was observed in 21.7% of cases. A total of 1,132 defects were observed with single defects in 832 cases (85%), 2 concurrent defects in 132 cases (14%), and 3 concurrent defects in 12 cases (1%). The most common defects were pulmonic stenosis (PS; 32.1%), subaortic stenosis (SAS; 21.3%), and patent ductus arteriosus (20.9%), followed by ventricular septal defect (VSD; 7.5%), valvular aortic stenosis (AS; 5.7%), and tricuspid dysplasia (3.1%). SAS, PS, and VSD frequently were associated with other defects. Several breed and sex predispositions were identified. The results of this study are in accordance with previous studies, with slight differences. The breed and sex predilections identified may be of value for the diagnosis and screening of CHD in dogs. Additionally, the relatively high percentage of concurrent heart defects emphasizes the importance of accurate and complete examinations for identification. Because these data are from a cardiology referral center, a bias may exist. Copyright © 2011 by the American College of Veterinary Internal Medicine.

  5. CONGENITAL NUTRITIONAL MYODEGENERATION (WHITE MUSCLE DISEASE) IN A GIRAFFE ( GIRAFFA CAMELOPARDALIS) CALF.

    Science.gov (United States)

    Bos, Jan H; Klip, Fokko C; Kik, Marja J L

    2017-12-01

    It is well known that vitamin E and selenium deficiencies in domestic ruminants can lead to white muscle disease. After a clinically normal gestation period at Ouwehand Zoo in the Netherlands, a newborn giraffe ( Giraffa camelopardalis) calf showed clinical signs of white muscle disease almost immediately after birth. The calf was rejected by the mother and was euthanized 3 days later because of deterioration of clinical signs. At necropsy, pulmonary edema and pallor of skeletal and heart muscles was noted. Histologically, there was hyaline degeneration of skeletal muscle myocytes and pulmonary edema. Blood concentrations of vitamin E were ≤ 0.7 mg/L. Based on clinical, biochemical, and gross and microscopic pathological findings, congenital nutritional myodegeneration was diagnosed. This case of neonatal white muscle disease is particularly remarkable given that the diet of the dam contained more than the recommended amount of vitamin E.

  6. Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome.

    Directory of Open Access Journals (Sweden)

    Mallory C Shields

    Full Text Available During chemical transmission, the function of synaptic proteins must be coordinated to efficiently release neurotransmitter. Synaptotagmin 2, the Ca2+ sensor for fast, synchronized neurotransmitter release at the human neuromuscular junction, has recently been implicated in a dominantly inherited congenital myasthenic syndrome associated with a non-progressive motor neuropathy. In one family, a proline residue within the C2B Ca2+-binding pocket of synaptotagmin is replaced by a leucine. The functional significance of this residue has not been investigated previously. Here we show that in silico modeling predicts disruption of the C2B Ca2+-binding pocket, and we examine the in vivo effects of the homologous mutation in Drosophila. When expressed in the absence of native synaptotagmin, this mutation is lethal, demonstrating for the first time that this residue plays a critical role in synaptotagmin function. To achieve expression similar to human patients, the mutation is expressed in flies carrying one copy of the wild type synaptotagmin gene. We now show that Drosophila carrying this mutation developed neurological and behavioral manifestations similar to those of human patients and provide insight into the mechanisms underlying these deficits. Our Drosophila studies support a role for this synaptotagmin point mutation in disease etiology.

  7. Pulmonary vascular volume ratio measured by cardiac computed tomography in children and young adults with congenital heart disease: comparison with lung perfusion scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo; Park, Sang Hyub [University of Ulsan College of Medicine, Department of Radiology and Research Institute of Radiology, Asan Medical Center, Seoul (Korea, Republic of)

    2017-11-15

    Lung perfusion scintigraphy is regarded as the gold standard for evaluating differential lung perfusion ratio in congenital heart disease. To compare cardiac CT with lung perfusion scintigraphy for estimated pulmonary vascular volume ratio in patients with congenital heart disease. We included 52 children and young adults (median age 4 years, range 2 months to 28 years; 31 males) with congenital heart disease who underwent cardiac CT and lung perfusion scintigraphy without an interim surgical or transcatheter intervention and within 1 year. We calculated the right and left pulmonary vascular volumes using threshold-based CT volumetry. Then we compared right pulmonary vascular volume percentages at cardiac CT with right lung perfusion percentages at lung perfusion scintigraphy by using paired t-test and Bland-Altman analysis. The right pulmonary vascular volume percentages at cardiac CT (66.3 ± 14.0%) were significantly smaller than the right lung perfusion percentages at lung perfusion scintigraphy (69.1 ± 15.0%; P=0.001). Bland-Altman analysis showed a mean difference of -2.8 ± 5.8% and 95% limits of agreement (-14.1%, 8.5%) between these two variables. Cardiac CT, in a single examination, can offer pulmonary vascular volume ratio in addition to pulmonary artery anatomy essential for evaluating peripheral pulmonary artery stenosis in patients with congenital heart disease. However there is a wide range of agreement between cardiac CT and lung perfusion scintigraphy. (orig.)

  8. Pulmonary vascular volume ratio measured by cardiac computed tomography in children and young adults with congenital heart disease: comparison with lung perfusion scintigraphy

    International Nuclear Information System (INIS)

    Goo, Hyun Woo; Park, Sang Hyub

    2017-01-01

    Lung perfusion scintigraphy is regarded as the gold standard for evaluating differential lung perfusion ratio in congenital heart disease. To compare cardiac CT with lung perfusion scintigraphy for estimated pulmonary vascular volume ratio in patients with congenital heart disease. We included 52 children and young adults (median age 4 years, range 2 months to 28 years; 31 males) with congenital heart disease who underwent cardiac CT and lung perfusion scintigraphy without an interim surgical or transcatheter intervention and within 1 year. We calculated the right and left pulmonary vascular volumes using threshold-based CT volumetry. Then we compared right pulmonary vascular volume percentages at cardiac CT with right lung perfusion percentages at lung perfusion scintigraphy by using paired t-test and Bland-Altman analysis. The right pulmonary vascular volume percentages at cardiac CT (66.3 ± 14.0%) were significantly smaller than the right lung perfusion percentages at lung perfusion scintigraphy (69.1 ± 15.0%; P=0.001). Bland-Altman analysis showed a mean difference of -2.8 ± 5.8% and 95% limits of agreement (-14.1%, 8.5%) between these two variables. Cardiac CT, in a single examination, can offer pulmonary vascular volume ratio in addition to pulmonary artery anatomy essential for evaluating peripheral pulmonary artery stenosis in patients with congenital heart disease. However there is a wide range of agreement between cardiac CT and lung perfusion scintigraphy. (orig.)

  9. Pulmonary vascular volume ratio measured by cardiac computed tomography in children and young adults with congenital heart disease: comparison with lung perfusion scintigraphy.

    Science.gov (United States)

    Goo, Hyun Woo; Park, Sang Hyub

    2017-11-01

    Lung perfusion scintigraphy is regarded as the gold standard for evaluating differential lung perfusion ratio in congenital heart disease. To compare cardiac CT with lung perfusion scintigraphy for estimated pulmonary vascular volume ratio in patients with congenital heart disease. We included 52 children and young adults (median age 4 years, range 2 months to 28 years; 31 males) with congenital heart disease who underwent cardiac CT and lung perfusion scintigraphy without an interim surgical or transcatheter intervention and within 1 year. We calculated the right and left pulmonary vascular volumes using threshold-based CT volumetry. Then we compared right pulmonary vascular volume percentages at cardiac CT with right lung perfusion percentages at lung perfusion scintigraphy by using paired t-test and Bland-Altman analysis. The right pulmonary vascular volume percentages at cardiac CT (66.3 ± 14.0%) were significantly smaller than the right lung perfusion percentages at lung perfusion scintigraphy (69.1 ± 15.0%; P=0.001). Bland-Altman analysis showed a mean difference of -2.8 ± 5.8% and 95% limits of agreement (-14.1%, 8.5%) between these two variables. Cardiac CT, in a single examination, can offer pulmonary vascular volume ratio in addition to pulmonary artery anatomy essential for evaluating peripheral pulmonary artery stenosis in patients with congenital heart disease. However there is a wide range of agreement between cardiac CT and lung perfusion scintigraphy.

  10. The Burden of Care: Mothers’ Experiences of Children with Congenital Heart Disease

    Science.gov (United States)

    Sabzevari, Sakinne; Nematollahi, Monirsadat; Mirzaei, Tayebeh; Ravari, Ali

    2016-01-01

    ABSTRACT Background: Mothers play a key role in caring for their sick children. Their experiences of care were influenced by culture, rules, and the system of health and care services. There are few studies on maternal care of children with congenital heart disease. Also, each of them has studied a particular aspect of care. The present research aimed to understand care experiences of mothers of children with congenital heart disease. Methods: A conventional content analysis was used to obtain rich data. The goal of content analysis is “to provide knowledge and deeper understanding of the phenomenon under the study”. The study was conducted in Kerman, Iran in 2014, on mothers of children with CHD. The purposive sampling technique was used to select the participants. Participants were 14 mothers of children with CHD and one father and one nurse of open heart surgery unit, from two hospitals affiliated with Kerman University of Medical Sciences. Eighteen semi-structured interviews were constructed. Data were analyzed using conventional content analysis. MAXQDA 2007 software (VERBI GmbH, Berlin, Germany) was used to classify and manage the coding. Constant comparative method was done for data analysis. The reliability and validity of the findings, including the credibility, confirm ability, dependability, and transferability, were assessed. Results: According to the content analysis, the main theme was the catastrophic burden of child care on mothers that included three categories: 1) the tension resulting from the disease, 2) involvement with internal thoughts, and 3) difficulties of care process Conclusion: The results of this study may help health care professionals to provide supportive and educational packages to the patients, mothers and Family members until improving the management of patient’s care. PMID:27713900

  11. The Burden of Care: Mothers’ Experiences of Children with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Sakinne Sabzevari

    2016-10-01

    Full Text Available Background: Mothers play a key role in caring for their sick children. Their experiences of care were influenced by culture, rules, and the system of health and care services. There are few studies on maternal care of children with congenital heart disease. Also, each of them has studied a particular aspect of care. The present research aimed to understand care experiences of mothers of children with congenital heart disease. Methods: A conventional content analysis was used to obtain rich data. The goal of content analysis is “to provide knowledge and deeper understanding of the phenomenon under the study”. The study was conducted in Kerman, Iran in 2014, on mothers of children with CHD. The purposive sampling technique was used to select the participants. Participants were 14 mothers of children with CHD and one father and one nurse of open heart surgery unit, from two hospitals affiliated with Kerman University of Medical Sciences. Eighteen semi-structured interviews were constructed. Data were analyzed using conventional content analysis. MAXQDA 2007 software (VERBI GmbH, Berlin, Germany was used to classify and manage the coding. Constant comparative method was done for data analysis. The reliability and validity of the findings, including the credibility, confirm ability, dependability, and transferability, were assessed. Results: According to the content analysis, the main theme was the catastrophic burden of child care on mothers that included three categories: 1 the tension resulting from the disease, 2 involvement with internal thoughts, and 3 difficulties of care process Conclusion: The results of this study may help health care professionals to provide supportive and educational packages to the patients, mothers and Family members until improving the management of patient’s care.

  12. Prosthetic valves in adult patients with congenital heart disease : Rationale and design of the Dutch PROSTAVA study

    NARCIS (Netherlands)

    Freling, H. G.; van Slooten, Y. J.; van Melle, J. P.; Mulder, B. J. M.; van Dijk, A. P. J.; Hillege, H. L.; Post, M. C.; Sieswerda, G. Tj; Jongbloed, M. R. M.; Willems, T. P.; Pieper, P. G.

    2012-01-01

    Data on long-term complications in adult patients with congenital heart disease (ACHD) and a prosthetic valve are scarce. Moreover, the influence of prosthetic valves on quality of life (QoL) and functional outcome in ACHD patients with prosthetic valves has not been studied. The primary objective

  13. "What I Wish You Knew": Social Barriers toward Physical Activity in Youth with Congenital Heart Disease (CHD)

    Science.gov (United States)

    Moola, Fiona; Fusco, Caroline; Kirsh, Joel A.

    2011-01-01

    Despite the benefits of physical activity for youth with congenital heart disease (CHD), most patients are inactive. Although literature has addressed medical and psychological barriers to participation, little is known about the social barriers that youth encounter. This qualitative study explored sociocultural barriers to physical activity from…

  14. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: executive summary

    NARCIS (Netherlands)

    Silversides, Candice K.; Marelli, Ariane; Beauchesne, Luc; Dore, Annie; Kiess, Marla; Salehian, Omid; Bradley, Timothy; Colman, Jack; Connelly, Michael; Harris, Louise; Khairy, Paul; Mital, Seema; Niwa, Koichiro; Oechslin, Erwin; Poirier, Nancy; Schwerzmann, Markus; Taylor, Dylan; Vonder Muhll, Isabelle; Baumgartner, Helmut; Benson, Lee; Celermajer, David; Greutmann, Matthias; Horlick, Eric; Landzberg, Mike; Meijboom, Folkert; Mulder, Barbara; Warnes, Carole; Webb, Gary; Therrien, Judith

    2010-01-01

    With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. They have distinctive forms of heart failure, and

  15. X-ray diagnosis and treatment for severe respiratory complications during cardiac catheterizations on pediatric congenital heart disease

    International Nuclear Information System (INIS)

    Wang Cheng; Zhao Shihua; Jiang Shiliang; Huang Lianjun; Xu Zhongying; Ling Jian; Zheng Hong; Xie Ruolan; Lu Minjie

    2005-01-01

    Objective: To study the radiological features of severe respiratory complications during cardiac catheterizations on pediatric congenital heart disease so as to make early diagnosis and treatment. We also intend to find the mechanism of these complications. Methods: A total of 9 pediatric cases with severe respiratory complications during cardiac catheterizations were included in the study. The clinical manifestations, radiological features, and corresponding treatments were reviewed. Results: Most of the cases had severe hypoxia, with 6 cases presenting with bradycardia. Opacification of two lung fields was found in 7 cases, pulmonary edema in 1 case, and atelectasis of the upper right lung in 1 case. With intubation, oxygen inhalation and administration of certain drugs, all cases were saved except 1 case with pulmonary edema. Conclusion: Severe respiratory complications during cardiac catheterizations on pediatric congenital heart disease are emergent and critical, and they often presented with various manifestations. Early diagnosis and correct treatment are the key to successful salvage. (authors)

  16. Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark

    DEFF Research Database (Denmark)

    Hove, Marianne N; Kilic-Biyik, Kevser Z; Trotter, Alana

    2016-01-01

    Purpose: To assess clinical characteristics, foveal structure, mutation spectrum, and prevalence rate of Åland eye disease (AED)/incomplete congenital stationary night blindness (iCSNB). Methods: A retrospective survey included individuals diagnosed with AED at a national low-vision center from...

  17. [Spanish Society for Pediatric Infectious Diseases guidelines on tuberculosis in pregnant women and neonates (i): Epidemiology and diagnosis. Congenital tuberculosis].

    Science.gov (United States)

    Baquero-Artigao, F; Mellado Peña, M J; Del Rosal Rabes, T; Noguera Julián, A; Goncé Mellgren, A; de la Calle Fernández-Miranda, M; Navarro Gómez, M L

    2015-10-01

    Tuberculosis (TB) screening in pregnancy using tuberculin skin test (TST) is recommended in case of symptoms of TB disease, close contact with a patient with infectious TB, or high risk of developing active disease. The new interferon gamma release assay (IGRA) tests are recommended in BCG-vaccinated pregnant women with positive TST and no known risk factors for TB, and in those immunocompromised, with clinical suspicion of TB but negative TST. TB diagnosis is difficult due to the non-specific symptoms, the increased frequency of extrapulmonary disease, the delay in radiological examinations, and the high rate of tuberculin anergy. Neonatal TB can be acquired in utero (congenital TB), or through airborne transmission after delivery (postnatal TB). Congenital TB is extremely rare and does not cause fetal malformations. It may be evident at birth, although it usually presents after the second week of life. In newborns with no family history of TB, the disease should be considered in cases of miliary pneumonia, hepatosplenomegaly with focal lesions, or lymphocytic meningitis with hypoglycorrhachia, especially in those born to immigrants from high TB-burden countries. TST is usually negative, and IGRAs have lower sensitivity than in older children. However, the yield of acid-fast smear and culture is higher, mostly in congenital TB. Molecular diagnosis techniques enable early diagnosis and detection of drug resistance mutations. There is a substantial risk of disseminated disease and death. Copyright © 2014 Asociación Española de Pediatría. Published by Elsevier España, S.L.U. All rights reserved.

  18. 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.

  19. Association of temporary complete AV block and junctional ectopic tachycardia after surgery for congenital heart disease

    International Nuclear Information System (INIS)

    Paech, Christian; Dähnert, Ingo; Kostelka, Martin; Mende, Meinhardt; Gebauer, Roman

    2015-01-01

    Junctional ectopic tachycardia (JET) is a postoperative complication with a mortality rate of up to 14% after surgery for congenital heart disease. This study evaluated the risk factors of JET and explored the association of postoperative temporary third degree atrioventricular (AV) block and the occurrence of JET. Data were collected retrospectively from 1158 patients who underwent surgery for congenital heart disease. The overall incidence of JET was 2.8%. Temporary third degree AV block occurred in 1.6% of cases. Permanent third degree AV block requiring pacemaker implantation occurred in 1% of cases. In all, 56% of patients with JET had temporary AV block (P < 0.001), whereas no case of postoperative JET was reported in patients with permanent AV block (P = 0.56). temporary third degree AV block did not suffer from JET. A correlation between temporary third degree AV block and postoperative JET could be observed. The risk factors identified for JET include younger age groups at the time of surgery, longer aortic cross clamping time and surgical procedures in proximity to the AV node

  20. 67Ga imaging in the patients with infective endocarditis after surgery for congenital heart disease

    International Nuclear Information System (INIS)

    Kohata, Tohru; Ono, Yasuo; Kamiya, Tetsuro; Nishimura, Tsunehiko; Takamiya, Makoto; Yagihara, Toshikatsu

    1991-01-01

    67 Ga imaging was performed in sixteen patients (age: 8 m.-18 y.) who had persistent fever and positive acute phase reactants after surgery for congenital heart disease. Abnormal uptake of 67 Ga over the heart and the lungs was evaluated with a computer. Abnormal uptake of 67 Ga was observed in seven patients. Of them, three showed it in the area of peripheral pulmonary artery and the other four showed it in the area of artificial vessels for pulmonary artery reconstruction. In six patients with positive blood cultures, five showed abnormal uptake of 67 Ga and in ten patients with negative blood cultures, two showed it. Vegetation was detected with 2D-echocardiography in four patients and all of them showed abnormal uptake of 67 Ga, while in 12 patients without vegetation three showed it. In conclusion, 67 Ga imaging was useful to detect the foci of infective endocarditis or pulmonary embolism caused by the vegetation in infective endocarditis in the patients after surgery for congenital heart disease, especially in the peripheral pulmonary arteries and artificial vessels which could not be detected with 2D-echo. (author)

  1. 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

    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.

  2. 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

  3. Pulmonary artery closure in combination with patch technique for treating congenital heart disease combined with large patent ductus arteriosus: A clinical study of 9 cases

    OpenAIRE

    Wen, Bing; Yang, Junya; Liu, Huiruo; Jiao, Zhouyang; Zhao, Wenzeng

    2016-01-01

    Objective: To document clinical experience of treating congenital heart disease combined with large patent ductus arteriosus with pulmonary artery closure in combination with patch technique. Methods: Thirty-six patients (8 males and 28 females) who suffered from congenital heart disease and underwent hybrid surgery in the First Affiliated Hospital of Zhengzhou University from October 2010 to February 2014 were selected for this study. They aged 14 to 39 years and weighed 32.20 to 61.50 kg. D...

  4. Pulmonary arterial hypertension in adult congenital heart disease.

    Science.gov (United States)

    Brida, Margarita; Gatzoulis, Michael A

    2018-05-02

    Pulmonary arterial hypertension (PAH) is commonly associated with congenital heart disease (CHD) and relates to type of the underlying cardiac defects and repair history. Large systemic to pulmonary shunts may develop PAH if untreated or repaired late. PAH, when present, markedly increases morbidity and mortality in patients with CHD. Significant progress has been made for patients with Eisenmenger syndrome in pathophysiology, prognostication and disease-targeting therapy (DTT), which needs to be applied to routine patient care. Patients with PAH-CHD and systemic to pulmonary shunting may benefit from late defect closure if pulmonary vascular resistance (PVR) is still normal or near normal. Patients with PAH and coincidental defects, or previous repair of CHD should be managed as those with idiopathic PAH. Patients with a Fontan circulation, despite not strictly fulfilling criteria for PAH, may have elevated PVR; recent evidence suggests that they may also benefit from DTT, but more data are required before general recommendations can be made. CHD-PAH is a lifelong, progressive disease; patients should receive tertiary care and benefit from a proactive DTT approach. Novel biomarkers and genetic advances may identify patients with CHD who should be referred for late defect closure and/or patients at high risk of developing PAH despite early closure in childhood. Ongoing vigilance for PAH and further controlled studies are clearly warranted in CHD. © 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.

  5. Radiological features in congenital erythropoietic porphyria (Gunther's disease). Report of three cases

    Energy Technology Data Exchange (ETDEWEB)

    Levesque, M.; Legmann, P.; Le Cloirec, A.; Deybach, J.C.; Nordmann, Y.

    1988-01-01

    Gunther's disease or congenital erythropoietic porphyria is a rare and severe disorder comprising cutaneous and haemolytic symptoms. Photocutaneous lesions are responsible for scleroderma-like calcifications and deformities of the extremities visible on X-rays. Hemolytic manifestations lead to diffuse major osteopenia. Soft tissue calcifications of the fingers can be seen even in young patients. One case reported here is the first illustration of intracranial calcifications located on dura-mater and calvarium.

  6. The Adolescent and Adult with congenital heart disease: When is the Magnetic Resonance Useful?

    International Nuclear Information System (INIS)

    Delgado, Jorge Andres; Abad, Pedro; Llano, Juan Fernando; Pulgarin, Luis German

    2008-01-01

    Cardiac magnetic resonance imaging (CMR) plays an important and growing role in the morphologic and functional assessment of the adolescent and adult patient with congenital heart disease and their post surgical sequelae. CMR allows a comprehensive noninvasive evaluation of the heart and chest without the limited acoustic window and field of view of trans thoracic echocardiography. This paper reviews the CMR technique and its clinical indications, followed by several representative teaching cases.

  7. Prenatal detection of congenital heart disease in a low risk population undergoing first and second trimester screening

    DEFF Research Database (Denmark)

    Jørgensen, Ditte E S; Vejlstrup, Niels; Jørgensen, Connie

    2015-01-01

    OBJECTIVES: The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark. METHODS: Fetuses and infants diagnosed with CHD in the period 01.01.2008-31.12.2010 were assessed...

  8. Unrecognized Ingestion of Toxoplasma gondii Oocysts Leads to Congenital Toxoplasmosis and Causes Epidemics in North America

    Science.gov (United States)

    Boyer, Kenneth; Hill, Dolores; Mui, Ernest; Wroblewski, Kristen; Karrison, Theodore; Dubey, J. P.; Sautter, Mari; Noble, A. Gwendolyn; Withers, Shawn; Swisher, Charles; Heydemann, Peter; Hosten, Tiffany; Babiarz, Jane; Lee, Daniel

    2011-01-01

    (See the Editorial Commentary by Linn, on pages 1090–1.) Background. Congenital toxoplasmosis presents as severe, life-altering disease in North America. If mothers of infants with congenital toxoplasmosis could be identified by risks, it would provide strong support for educating pregnant women about risks, to eliminate this disease. Conversely, if not all risks are identifiable, undetectable risks are suggested. A new test detecting antibodies to sporozoites demonstrated that oocysts were the predominant source of Toxoplasma gondii infection in 4 North American epidemics and in mothers of children in the National Collaborative Chicago-based Congenital Toxoplasmosis Study (NCCCTS). This novel test offered the opportunity to determine whether risk factors or demographic characteristics could identify mothers infected with oocysts. Methods. Acutely infected mothers and their congenitally infected infants were evaluated, including in-person interviews concerning risks and evaluation of perinatal maternal serum samples. Results. Fifty-nine (78%) of 76 mothers of congenitally infected infants in NCCCTS had primary infection with oocysts. Only 49% of these mothers identified significant risk factors for sporozoite acquisition. Socioeconomic status, hometown size, maternal clinical presentations, and ethnicity were not reliable predictors. Conclusions. Undetected contamination of food and water by oocysts frequently causes human infections in North America. Risks are often unrecognized by those infected. Demographic characteristics did not identify oocyst infections. Thus, although education programs describing hygienic measures may be beneficial, they will not suffice to prevent the suffering and economic consequences associated with congenital toxoplasmosis. Only a vaccine or implementation of systematic serologic testing of pregnant women and newborns, followed by treatment, will prevent most congenital toxoplasmosis in North America. PMID:22021924

  9. Aortic valve prosthesis-patient mismatch and exercise capacity in adult patients with congenital heart disease.

    Science.gov (United States)

    van Slooten, Ymkje J; van Melle, Joost P; Freling, Hendrik G; Bouma, Berto J; van Dijk, Arie Pj; Jongbloed, Monique Rm; Post, Martijn C; Sieswerda, Gertjan T; Huis In 't Veld, Anna; Ebels, Tjark; Voors, Adriaan A; Pieper, Petronella G

    2016-01-01

    To report the prevalence of aortic valve prosthesis-patient mismatch (PPM) in an adult population with congenital heart disease (CHD) and its impact on exercise capacity. Adults with congenital heart disease (ACHD) with a history of aortic valve replacement may outgrow their prosthesis later in life. However, the prevalence and clinical consequences of aortic PPM in ACHD are presently unknown. From the national Dutch Congenital Corvitia (CONCOR) registry, we identified 207 ACHD with an aortic valve prosthesis for this cross-sectional cohort study. Severe PPM was defined as an indexed effective orifice area ≤0.65 cm2/m2 and moderate PPM as an indexed orifice area ≤0.85 cm2/m2 measured using echocardiography. Exercise capacity was reported as percentage of predicted exercise capacity (PPEC). Of the 207 patients, 68% was male, 71% had a mechanical prosthesis and mean age at inclusion was 43.9 years ±11.4. The prevalence of PPM was 42%, comprising 23% severe PPM and 19% moderate PPM. Prevalence of PPM was higher in patients with mechanical prostheses (pHeart Association (NYHA) class remained stable in most patients. PPM showed no significant effect on death or hospitalisation during follow-up (p=0.218). In this study we report a high prevalence (42%) of PPM in ACHD with an aortic valve prosthesis and an independent association of PPM with diminished exercise capacity. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  10. Multi-slice spiral CT in the diagnosis of congenital heart diseases associated with tracheobronchial stenosis in children

    International Nuclear Information System (INIS)

    Wang Rongpin; Liang Changhong; Huang Meiping; Liu Hui; Cui Yanhai; Liu Qishun

    2010-01-01

    Objective: To explore the diagnostic value of post processing techniques of MSCT for diagnosing congenital heart disease associated with tracheobronchial stenosis in children. Methods: Thirty four patients with congenital heart disease complicated by tracheobronchial stenosis were evaluated with MSCT. MPR, CPR, MinIP and VR were performed to show the tracheobronchial morphology. Findings in 43 segments of 32 cases were compared with the findings of surgical operation. Mann-Whitney test was employed to assess the significance of measurement between the post processing techniques and the operation. Results: The length of stenotic segments were variable seen at operation, with values between 4- 39 mm in trachea, 4-33 mm in main bronchi and 3-12 mm in lobe bronchi, respectively. The biggest difference between the measurement of operation and MSCT was 4 mm (3 segments). Other differences of stenotic segments were within 3 mm. Six segments exhibited mild, 16 moderate and 21 severe stenosis at surgery. By contrast, five segments exhibited mild, 17 moderate and 21 severe stenosis by MPR or CPR, 2 mild, 9 moderate and 32 severe stenosis by MinIP and 4 mild, 11 moderate and 28 sever stenosis by VR, respectively. There was no significant difference in measuring the degree of tracheobronchial stenosis between MPR or CPR, VR and the surgery (Z=-0.105, -1.479; P>0.05), while MinIP frequently overrated the degree of stenosis compared with the measurement at surgery (Z=-2.484, P=0.013). Conclusion: The integrated three dimensional reformations of MSCT scan can accurately evaluate the degree and extent of congenital heart disease associated with tracheobronchial stenosis in children and provide valuable information for clinical management. (authors)

  11. Genotypic diversity and mixed infection in newborn disease and hearing loss in congenital cytomegalovirus infection.

    Science.gov (United States)

    Pati, Sunil K; Pinninti, Swetha; Novak, Zdenek; Chowdhury, Nazma; Patro, Raj K; Fowler, Karen; Ross, Shannon; Boppana, Suresh

    2013-10-01

    Congenital cytomegalovirus (cCMV) is a common congenital infection and a leading nongenetic cause of sensorineural hearing loss (SNHL). CMV exhibits extensive genetic variability, and infection with multiple CMV strains (mixed infection) was shown to be common in congenital CMV. The role of mixed infections in disease and outcome remains to be defined. Genotyping of envelope glycoproteins, UL55 (gB), UL73 (gN) and UL75 (gH), was performed on saliva specimens of 79 infants from the ongoing CMV and Hearing Multicenter Screening (CHIMES) Study and on blood and urine specimens of 52 infants who participated in natural history studies at the University of Alabama at Birmingham. Genotyping of UL144 and US28 was also performed in the CHIMES cohort. The association of individual genotypes and mixed infection with clinical findings at birth and SNHL was examined. Thirty-seven of 131 infants (28%) were symptomatic at birth and 26 (20%) had SNHL at birth. All known genotypes of UL55, UL75, UL73 and US28 were represented, and no particular genotype was associated with symptomatic infection or SNHL. UL144 subtype C was more common in symptomatic infants but not associated with SNHL. Mixed infection was observed in 59 infants (45%) and not associated with symptoms (P = 0.43) or SNHL at birth (P = 0.82). In the cohort of 52 infants with long-term hearing outcome, mixed infection at birth was not predictive of SNHL. Mixed infection is common in infants with congenital CMV but is neither associated with symptomatic infection nor associated with SNHL.

  12. [Nosocomial infections after cardiac surgery in infants and children with congenital heart disease].

    Science.gov (United States)

    Barriga, José; Cerda, Jaime; Abarca, Katia; Ferrés, Marcela; Fajuri, Paula; Riquelme, María; Carrillo, Diego; Clavería, Cristián

    2014-02-01

    Nosocomial infections generate high morbidity and mortality in children undergoing cardiac surgery. To determine risk factors for nosocomial infections in children after congenital heart surgery. A retrospective case-control study, in patients younger than 15 years undergoing surgery for congenital heart disease from January 2007 to December 2011 admitted to the Pediatric Critical Patient Unit (UPC-P) in a university hospital. For cases, the information was analyzed from the first episode of infection. 39 patients who develop infections and 39 controls who did not develop infection were enrolled. The median age of cases was 2 months. We identified a number of factors associated with the occurrence of infections, highlighting in univariate analysis: age, weight, univentricular heart physiology, complexity of the surgical procedure according to RACHS-1 and cardiopulmonary bypass (CPB) time ≥ 200 minutes. Multivariate analysis identified CPB time ≥ 200 minutes as the major risk factor, with an OR of 11.57 (CI: 1.04 to 128.5). CPB time ≥ 200 minutes was the mayor risk factor associated with the development of nosocomial infections.

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

    Directory of Open Access Journals (Sweden)

    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.

  14. CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

    Directory of Open Access Journals (Sweden)

    David Neubauer

    2001-07-01

    Full Text Available Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration and endocrinopathy. Men with this disorder have often gonadal atrophy and infertility. On the other hand women are generally fertile. During pregnancy their myopathy worsens, often causing severe obstetrical complications. Their children may develop congenital form of the disease with signs of myopathy in utero and have great difficulties in maintaining life functions after birth, together with other characteristical signs of this form: bilateral facial weakness, severe hypotonia, feeding difficulties, talipes equinovarus and mental retardation. The authors present a female newborn with such congenital form of myotonic dystrophy.Conclusions. The authors have emphasized the importance of medical history, regular updating of all the cases of neuromuscular diseases in the region and clinical characteristics for the recognition of congenital form of myotonic dystrophy because of possible prenatal diagnostics and better antenatal and postantal care.

  15. The Congenital Heart Disease Genetic Network Study: Cohort description.

    Directory of Open Access Journals (Sweden)

    Thanh T Hoang

    Full Text Available The Pediatric Cardiac Genomics Consortium (PCGC designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs cohort. This article describes the PCGC cohort, overall and by major types of CHDs (e.g., conotruncal defects and subtypes of conotrucal heart defects (e.g., tetralogy of Fallot and left ventricular outflow tract obstructions (e.g., hypoplastic left heart syndrome. Cases with CHDs were recruited through ten sites, 2010-2014. Information on cases (N = 9,727 and their parents was collected through interviews and medical record abstraction. Four case characteristics, eleven parental characteristics, and thirteen parent-reported neurodevelopment outcomes were summarized using counts and frequencies and compared across CHD types and subtypes. Eleven percent of cases had a genetic diagnosis. Among cases without a genetic diagnosis, the majority had conotruncal heart defects (40% or left ventricular outflow tract obstruction (21%. Across CHD types, there were significant differences (p<0.05 in the distribution of all four case characteristics (e.g., sex, four parental characteristics (e.g., maternal pregestational diabetes, and five neurodevelopmental outcomes (e.g., learning disabilities. Several characteristics (e.g., sex were also significantly different across CHD subtypes. The PCGC cohort is one of the largest CHD cohorts available for the study of genetic determinants of risk and outcomes. The majority of cases do not have a genetic diagnosis. This description of the PCGC cohort, including differences across CHD types and subtypes, provides a reference work for investigators who are interested in collaborating with or using publically available resources from the PCGC.

  16. Implantable cardioverter defibrillator therapy in pediatric and congenital heart disease patients: a single tertiary center experience in Korea

    Directory of Open Access Journals (Sweden)

    Bo Kyung Jin

    2013-03-01

    Full Text Available Purpose: The use of implantable cardioverter defibrillators (ICDs to prevent sudden cardiac death is increasing in children and adolescents. This study investigated the use of ICDs in children with congenital heart disease. Methods: This retrospective study was conducted on the clinical characteristics and effectiveness of ICD implantation at the department of pediatrics of a single tertiary center between 2007 and 2011. Results: Fifteen patients underwent ICD implantation. Their mean age at the time of implantation was 14.5±5.4 years (range, 2 to 22 years. The follow-up duration was 28.9±20.4 months. The cause of ICD implantation was cardiac arrest in 7, sustained ventricular tachycardia in 6, and syncope in 2 patients. The underlying disorders were as follows: ionic channelopathy in 6 patients (long QT type 3 in 4, catecholaminergic polymorphic ventricular tachycardia [CPVT] in 1, and J wave syndrome in 1, cardiomyopathy in 5 patients, and postoperative congenital heart disease in 4 patients. ICD coils were implanted in the pericardial space in 2 children (ages 2 and 6 years. Five patients received appropriate ICD shock therapy, and 2 patients received inappropriate shocks due to supraventricular tachycardia.During follow-up, 2 patients required lead dysfunction-related revision. One patient with CPVT suffered from an ICD storm that was resolved using sympathetic denervation surgery. Conclusion: The overall ICD outcome was acceptable in most pediatric patients. Early diagnosis and timely ICD implantation are recommended for preventing sudden death in high-risk children and patients with congenital heart disease.

  17. Hypoalbuminaemia predicts outcome in adult patients with congenital heart disease

    Science.gov (United States)

    Kempny, Aleksander; Diller, Gerhard-Paul; Alonso-Gonzalez, Rafael; Uebing, Anselm; Rafiq, Isma; Li, Wei; Swan, Lorna; Hooper, James; Donovan, Jackie; Wort, Stephen J; Gatzoulis, Michael A; Dimopoulos, Konstantinos

    2015-01-01

    Background In patients with acquired heart failure, hypoalbuminaemia is associated with increased risk of death. The prevalence of hypoproteinaemia and hypoalbuminaemia and their relation to outcome in adult patients with congenital heart disease (ACHD) remains, however, unknown. Methods Data on patients with ACHD who underwent blood testing in our centre within the last 14 years were collected. The relation between laboratory, clinical or demographic parameters at baseline and mortality was assessed using Cox proportional hazards regression analysis. Results A total of 2886 patients with ACHD were included. Mean age was 33.3 years (23.6–44.7) and 50.1% patients were men. Median plasma albumin concentration was 41.0 g/L (38.0–44.0), whereas hypoalbuminaemia (disease complexity, hypoalbuminaemia remained a significant predictor of death. Conclusions Hypoalbuminaemia is common in patients with ACHD and is associated with a threefold increased risk of risk of death. Hypoalbuminaemia, therefore, should be included in risk-stratification algorithms as it may assist management decisions and timing of interventions in the growing ACHD population. PMID:25736048

  18. Congenital anomalies among live births in a polluted area. A ten-year retrospective study

    Directory of Open Access Journals (Sweden)

    Gianicolo Emilio Antonio Luca

    2012-12-01

    Full Text Available Abstract Background Congenital anomalies and their primary prevention are a crucial public health issue. This work aimed to estimate the prevalence of congenital anomalies in Brindisi, a city in southeastern Italy at high risk of environmental crisis. Methods This research concerned newborns up to 28 days of age, born between 2001 and 2010 to mothers resident in Brindisi and discharged with a diagnosis of congenital anomaly. We classified cases according to the coding system adopted by the European Network for the Surveillance of Congenital Anomalies (EUROCAT. Prevalence rates of congenital anomalies in Brindisi were compared with those reported by EUROCAT. Logistic regression models were adapted to evaluate the association between congenital anomalies and municipality of residence of the mother during pregnancy. Results Out of 8,503 newborns we recorded 194 subjects with congenital anomalies (228.2/10,000 total births, 1.2 times higher than the one reported by the EUROCAT pool of registries. We observed 83 subjects with congenital heart diseases with an excess of 49.1%. Odds Ratios for congenital heart diseases significantly increased for newborns to mothers resident in Brindisi (OR 1.75 CI 95% 1.30-2.35. Conclusions Our findings indicated an increased prevalence of Congenital Anomalies (especially congenital heart diseases in the city of Brindisi. More research is needed in order to analyze the role of factors potentially involved in the causation of congenital anomalies.

  19. Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects.

    Science.gov (United States)

    Cristo, Fernando; Inácio, José M; de Almeida, Salomé; Mendes, Patrícia; Martins, Duarte Saraiva; Maio, José; Anjos, Rui; Belo, José A

    2017-07-24

    Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is linked with variants of genes involved in the Nodal signaling pathway. With this in mind, we analyzed a cohort of 38 unrelated patients with Congenital Heart Defects that can arise from initial perturbations in the formation of the Left-Right axis and 40 unrelated ethnically matched healthy individuals as a control population. Genomic DNA was extracted from buccal epithelial cells, and variants screening was performed by PCR and direct sequencing. A Nodal-dependent luciferase assay was conducted in order to determine the functional effect of the variant found. In this work, we report two patients with a DAND5 heterozygous non-synonymous variant (c.455G > A) in the functional domain of the DAND5 protein (p.R152H), a master regulator of Nodal signaling. Patient 1 presents left isomerism, ventricular septal defect with overriding aorta and pulmonary atresia, while patient 2 presents ventricular septal defect with overriding aorta, right ventricular hypertrophy and pulmonary atresia (a case of extreme tetralogy of Fallot phenotype). The functional analysis assay showed a significant decrease in the activity of this variant protein when compared to its wild-type counterpart. Altogether, our results provide new insight into the molecular mechanism of the laterality defects and related CHDs, priming for the first time DAND5 as one of multiple candidate determinants for CHDs in humans.

  20. High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease

    DEFF Research Database (Denmark)

    Erdogan, F; Larsen, Lars Allan; Zhang, L

    2008-01-01

    BACKGROUND: Congenital heart disease (CHD) is the most common birth defect and affects nearly 1% of newborns. The aetiology of CHD is largely unknown and only a small percentage can be assigned to environmental risk factors such as maternal diseases or exposure to mutagenic agents during pregnanc...