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Sample records for human congenital disease

  1. Congenital heart disease

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001114.htm Congenital heart disease To use the sharing features on this page, please enable JavaScript. Congenital heart disease (CHD) is a problem with the heart's structure ...

  2. Congenital Heart Disease in Adults

    Science.gov (United States)

    ... and genetics may play a role. Why congenital heart disease resurfaces in adulthood Some adults may find that ... in following adults with congenital heart disease. Congenital heart disease and pregnancy Women with congenital heart disease who ...

  3. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

    970296 Evaluating the degree of pulmonary vascularlesions in congenital heart disease with selective pul-monary angiography. PAN Shiwei(潘世伟), et al.Fuwai Hosp, CAMS & PUMC, Beijing, 100037. Chin JCardiol 1997; 25(1): 39-41. Objective: To evaluate the degree of pulmonary vas-

  4. 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.

  5. Screening and Characterization of Spontaneous Porcine Congenital Heart Defects for Gene Identification and Models of Human Disease

    Science.gov (United States)

    Background: Rodent models of human congenital birth defects have been instrumental for gene discovery and investigation of mechanisms of disease. However, these models are limited by their small size making practiced intervention or detailed anatomic evaluation difficult. Swine have similar anato...

  6. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... Health Conditions critical congenital heart disease critical congenital heart disease Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Critical congenital heart disease (CCHD) is a term that refers to a ...

  7. Role of connexins in human congenital heart disease: the chicken and egg problem

    Directory of Open Access Journals (Sweden)

    Aida eSalameh

    2013-06-01

    Full Text Available Inborn cardiac diseases are among the most frequent congenital anomalies and are the main cause of death in infants within the first year of age in industrialized countries when not adequately treated. They can be divided into simple and complex cardiac malformations. The former ones, for instance atrial and ventricular septal defects, valvular or subvalvular stenosis or insufficiency account for up to 80% of cardiac abnormalities. The latter ones, for example transposition of the great vessels, Tetralogy of Fallot or Shone's anomaly often do not involve only the heart but also the great vessels and although occurring less frequently these severe cardiac malformations will become symptomatically within the first months of age and have a high risk of mortality if the patients remain untreated. In the last decade there is increasing evidence that cardiac gap junction proteins, the connexins (Cx, might have an impact on cardiac anomalies. In the heart mainly three of them (Cx40, Cx43 and Cx45 are differentially expressed with regard to temporal organogenesis and to their spatial distribution in the heart. These proteins, forming gap junction channels, are most important for a normal electrical conduction and coordinated synchronous heart muscle contraction and also for the normal embryonic development of the heart. Animal and also some human studies revealed that at least in some cardiac malformations alterations in certain gap junction proteins are present but until today no particular gap junction mutation could be assigned to a specific cardiac anomaly. As gap junctions transmit growth and differentiation signals from cell to cell it is reasonable to assume that they are somehow involved in misdirected growth present in many inborn heart diseases playing a primary or contributory role. This review addresses potential role of gap junctions in the development of inborn heart anomalies like the conotruncal heart defects.

  8. Role of connexins in human congenital heart disease: the chicken and egg problem.

    Science.gov (United States)

    Salameh, Aida; Blanke, Katja; Daehnert, Ingo

    2013-01-01

    Inborn cardiac diseases are among the most frequent congenital anomalies and are the main cause of death in infants within the first year of age in industrialized countries when not adequately treated. They can be divided into simple and complex cardiac malformations. The former ones, for instance atrial and ventricular septal defects, valvular or subvalvular stenosis or insufficiency account for up to 80% of cardiac abnormalities. The latter ones, for example transposition of the great vessels, Tetralogy of Fallot or Shone's anomaly often do not involve only the heart, but also the great vessels and although occurring less frequently, these severe cardiac malformations will become symptomatic within the first months of age and have a high risk of mortality if the patients remain untreated. In the last decade, there is increasing evidence that cardiac gap junction proteins, the connexins (Cx), might have an impact on cardiac anomalies. In the heart, mainly three of them (Cx40, Cx43, and Cx45) are differentially expressed with regard to temporal organogenesis and to their spatial distribution in the heart. These proteins, forming gap junction channels, are most important for a normal electrical conduction and coordinated synchronous heart muscle contraction and also for the normal embryonic development of the heart. Animal and also some human studies revealed that at least in some cardiac malformations alterations in certain gap junction proteins are present but until today no particular gap junction mutation could be assigned to a specific cardiac anomaly. As gap junctions have often been supposed to transmit growth and differentiation signals from cell to cell it is reasonable to assume that they are somehow involved in misdirected growth present in many inborn heart diseases playing a primary or contributory role. This review addresses the potentional role of gap junctions in the development of inborn heart anomalies like the conotruncal heart defects.

  9. 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

  10. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1995-01-01

    950283 Surgical treatment of congenital coronaryartery fistula.CAO Qingheng(曹庆亨),et al.DeptCardiovasc Surg,Shanghai Chest Hosp,Shanghai,200030.Shanghai Med J 1995;18(1):10-12.From October 1957 through December 1990,twenty-five patients with congenital coronary artery fistula(CCAF),including 3 cases complicated with giantcoronary artery aneurysms,underwent surgical repair.The ages ranged from 4 to 47 years (mean 19.8years).CCAF originated from the right coronaryartery in 17 cases (68.0%) and terminated into RA,RV,pulmonary artery (PA) or LV,in 8 cases (32.

  11. Prenatal diagnosis of congenital diseases

    NARCIS (Netherlands)

    M.F. Niermeijer (Martinus)

    1975-01-01

    textabstractPrenatal diagnosis of a number of congenital diseases is possible by amniocentesis in the 14th - 16th week of pregnancy and subsequent analysis of cultured amniotic fluid cells or amniotic fluid supernatant. Parents at risk for a child with a chromosomal disorder, an X-linked disease, a

  12. [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.

  13. Genes in congenital heart disease: atrioventricular valve formation.

    NARCIS (Netherlands)

    Joziasse, I.C.; van de Smagt, J.J.; Smith, K.; Bakkers, J.; Sieswerda, G.J.; Mulder, B.J.M.; Doevendans, P.A.

    2008-01-01

    Through the use of animal studies, many candidate genes (mainly encoding transcriptional factors and receptors) have been implicated in the development of congenital heart disease. Thus far, only a minority of these genes have been shown to carry mutations associated with congenital disease in human

  14. Congenital Chagas disease: an update.

    Science.gov (United States)

    Carlier, Yves; Sosa-Estani, Sergio; Luquetti, Alejandro O; Buekens, Pierre

    2015-05-01

    Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi.

  15. Congenital Chagas disease: an update

    Directory of Open Access Journals (Sweden)

    Yves Carlier

    2015-05-01

    Full Text Available Congenital infection with Trypanosoma cruzi is a global problem, occurring on average in 5% of children born from chronically infected mothers in endemic areas, with variations depending on the region. This presentation aims to focus on and update epidemiological data, research methods, involved factors, control strategy and possible prevention of congenital infection with T. cruzi. Considering that etiological treatment of the child is always effective if performed before one year of age, the diagnosis of infection in pregnant women and their newborns has to become the standard of care and integrated into the surveillance programs of syphilis and human immunodeficiency virus. In addition to the standard tests, polymerase chain reaction performed on blood of neonates of infected mothers one month after birth might improve the diagnosis of congenital infection. Recent data bring out that its transmission can be prevented through treatment of infected women before they become pregnant. The role of parasite genotypes and host genetic factors in parasite transmission and development of infection in foetuses/neonates has to be more investigated in order to better estimate the risk factors and impact on health of congenital infection with T. cruzi.

  16. Mortality in adult congenital heart disease

    NARCIS (Netherlands)

    Verheugt, Carianne L.; Uiterwaal, Cuno S. P. M.; van der Velde, Enno T.; Meijboom, Folkert J.; Pieper, Petronella G.; van Dijk, Arie P. J.; Vliegen, Hubert W.; Grobbee, Diederick E.; Mulder, Barbara J. M.

    2010-01-01

    Mortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear. The Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regression was used to assess mortality pre

  17. Mortality in adult congenital heart disease

    NARCIS (Netherlands)

    C.L. Verheugt (Carianne); C.S.P.M. Uiterwaal (Cuno); E.T. van der Velde (Enno); F.J. Meijboom (Folkert); P.G. Pieper (Petronella); A.P.J. van Dijk (Arie); H.W. Vliegen (Hubert); D.E. Grobbee (Diederick); B.J.M. Mulder (Barbara)

    2010-01-01

    textabstractAimsMortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear.Methods and resultsThe Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regressio

  18. Mortality in adult congenital heart disease

    NARCIS (Netherlands)

    C.L. Verheugt (Carianne); C.S.P.M. Uiterwaal (Cuno); E.T. van der Velde (Enno); F.J. Meijboom (Folkert); P.G. Pieper (Petronella); A.P.J. van Dijk (Arie); H.W. Vliegen (Hubert); D.E. Grobbee (Diederick); B.J.M. Mulder (Barbara)

    2010-01-01

    textabstractAimsMortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear.Methods and resultsThe Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's

  19. Mortality in adult congenital heart disease.

    NARCIS (Netherlands)

    Verheugt, C.L.; Uiterwaal, C.S.; Velde, E.T. van der; Meijboom, F.J.; Pieper, P.G.; Dijk, A.P.J. van; Vliegen, H.W.; Grobbee, D.E.; Mulder, B.J.

    2010-01-01

    AIMS: Mortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear. METHODS AND RESULTS: The Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regression was

  20. Pathological changes in acute experimental toxoplasmosis with Toxoplasma gondii strains obtained from human cases of congenital disease.

    Science.gov (United States)

    Pinheiro, Breno Veloso; Noviello, Maria de Lourdes Meirelles; Cunha, Mariana Maciel; Tavares, Alice Thomaz; Carneiro, Ana Carolina Aguiar Vasconcelos; Arantes, Rosa Maria Esteves; Vitor, Ricardo Wagner Almeida

    2015-09-01

    There is a lack of studies using Toxoplasma gondii strains isolated from human patients. Here, we present a pathological study of three strains obtained from human cases of congenital toxoplasmosis in Brazil using inbred mice after oral infection with 10 tissue cysts. Multiplex-nested PCR-RFLP of eleven loci revealed atypical genotypes commonly found in Brazil: toxodb #8 for TgCTBr5 and TgCTBr16 strains and toxodb #11 for the TgCTBr9 strain. BALB/c and C57BL/6 mice were evaluated for survival and histological changes during the acute phase of the disease. All mice inoculated with the non-virulent TgCTBR5 strain survived after 30 days, although irreversible tissue damage was found. In contrast, no mice were resistant to infection with the highly virulent TgCTBR9 strain. The TgCTBr16 strain resulted in 80% survival in mice. However, this strain presented low infectivity, especially by the oral route of infection. Despite being identified with the same genotype, TgCTBr5 and TgCTBr16 strains showed biological differences. Histopathologic analysis revealed liver and lungs to be the most affected organs, and the pattern of tissue injury was similar to that found in mice inoculated perorally with strains belonging to clonal genotypes. However, there was a variation in the intensity of ileum lesions according to T. gondii strain and mouse lineage. C57BL/6 mice showed higher susceptibility than BALB/c for histological lesions. Taken together, these results revealed that the pathogenesis of T. gondii strains belonging to atypical genotypes can induce similar tissue damage to those from clonal genotypes, although intrinsic aspects of the strains seem critical to the induction of ileitis in the infected host.

  1. Congenital heart disease in Mexico: advances of the regionalization project.

    Science.gov (United States)

    Calderón-Colmenero, Juan; Cervantes-Salazar, Jorge; Curi-Curi, Pedro; Ramírez-Marroquín, Samuel

    2013-04-01

    Consistent with the mission of the World Society for Pediatric and Congenital Heart Surgery to promote health care for children with congenital heart disease all around the world, a Mexican Association of Specialists in Congenital Heart Disease (abbreviated in Spanish as AMECC) was created in Mexico in 2008. Our efforts were coordinated with those of the National Health Secretary with the objective being implementation of a national plan for regionalization of care for patients with congenital heart disease. To improve our knowledge related to technologic and human resources for management of congenital heart disease, we developed a national survey. Finally, a national database was created for collecting all Mexican centers' information related to congenital heart disease care in order to quantify the advances related to the proposed plans. The database utilized international consensus nomenclature. The aim of this article is to show the sequence of our actions in relation to direct accomplishments and the current status of congenital heart disease care in Mexico. This article emphasizes the main aspects of these actions: regionalization project implementation, national survey results, and cardiovascular pediatric surgical database creation. Knowledge of outcomes related to successful actions would be useful for those countries that face similar challenges and may lead them to consider adoption of similar measures with the respective adjustments to their own reality.

  2. Challenges Faced by Parents of Children with Congenital Heart Disease

    Science.gov (United States)

    ... Challenges Faced by Parents of Children with Congenital Heart Disease Page Content ​​​The first thing most parents want ... common and expected. About Congenital Heart Defects Congenital Heart Disease (CHD) is the most common type of birth ...

  3. [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.

  4. Congenital diseases of the gastrointestinal tract.

    Science.gov (United States)

    Lentze, M

    2014-05-01

    With the rapid increase in knowledge on the genetic origin of diseases within the gastrointestinal tract the number of congenital diseases, which already manifest during childhood have drastically increased. Due to the large application of molecular genetics the number is steadily increasing. To make the access to these rare diseases fast and efficient the data base of the National Library of Medicine (Online Mendelian Inheritance of Man - OMIN) is a very helpful online tool, with which all these disease entities can be found easily (http://www.ncbi.nlm.nih.gov/omim). Detailed tables are given to find most of the congenitally inherited disease, which affect the gastrointestinal tract. A variety of congenital diarrheas with disturbances of digestion, hydrolysis, absorption and secretion is described in detail: lactose intolerance, sucrose intolerance, glucose-galactose malabsorption, fructose malabsorption, trehalase and enterokinase deficiency, congenital chloride and sodium diarrhea, congenital hypomagnesaemia, primary bile acid malabsorption, acrodermatitis enteropathica and Menke's syndrome. Also described in detail are diseases with structural anomalies of the intestine like microvillous inclusion disease, congenital tufting enteropathy and IPEX syndrome. The diagnosis in the disturbances of carbohydrate hydrolysis or absorption can be established by H2-breath tests after appropriate sugar challenge. Treatment consists of elimination of the responsible sugar from the diet. The diagnosis of the congenital secretory diarrheas is established by investigation of electrolytes in blood and stool. Substitution of high doses of the responsible mineral can improve the clinical outcome. In acrodermatitis enteropathica low serum zinc level together with the typical skin lesions guide to the diagnosis. High doses of oral zinc aspartate can cure the symptoms of the disease. The diagnosis of structural congenital lesions of the intestine can be established by histology and

  5. Stroke Recurrence in Congenital Heart Disease

    OpenAIRE

    J Gordon Millichap

    2012-01-01

    Researchers at the Hospital for Sick Children, Toronto, Canada identified 135 patients with congenital heart disease diagnosed with arterial ischemic stroke during 1992-2008 and registered in the Canadian Pediatric Stroke Registry-Toronto site.

  6. 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

  7. 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....... 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....... 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...

  8. Adult congenital heart disease and pregnancy.

    Science.gov (United States)

    Rao, Shaline; Ginns, Jonathan N

    2014-08-01

    Adults with congenital heart disease now form the largest group of women with cardiac disease becoming pregnant in the developed world. This is both a mark of impressive steps forward in the management of congenital heart disease and also a challenge to the medical community to develop systems of care that will best serve these women and their babies. Each woman with congenital heart disease presents a unique pattern of challenges for the cardiologist, obstetrician, and anesthesiologist, and their care should be tailored to deal with their individual circumstances. As this population of patients continues to grow, we must continue to learn and improve our diagnostic tools and management strategies to refine their care. This review intends to focus on reviewing the outcomes in this set of patients and also an approach to the assessment and the management of these patients, primarily for an audience of obstetricians, pediatricians, and anesthesiologists. Copyright © 2014 Elsevier Inc. All rights reserved.

  9. Congenital Minamata disease: warnings from Japan's experience.

    Science.gov (United States)

    Kondo, K

    2000-07-01

    Minamata disease is alkylmercury poisoning causing Hunter-Russell syndrome due to ingestion of seafood polluted by industrial waste. Two epidemics occurred in Minamata (1956) and Niigata (1965), Japan. Many infants with "cerebral palsy" in villages where adult cases occurred were established as having congenital Minamata disease. Developing brains were affected by alkylmercury through transplacental exposure and even by breastfeeding. This report reviews the history, clinical features, pathology, epidemiology, metal analysis, experiments, and sociolegal aspects of congenital Minamata disease. Many victims are still alive and their present conditions are reviewed.

  10. A case of Fabry's disease with congenital agammaglobulinemia.

    Science.gov (United States)

    Lee, Ki-Yeol; Jeon, Su-Young; Hong, Jin-Woo; Kim, Sung-Eun; Song, Ki-Hoon; Kim, Young-Hun; Kim, Ki-Ho

    2011-07-01

    Fabry's disease is an X-linked lysosomal storage disorder caused by abnormalities in the α-galactosidase A (GLA) gene, which leads to a GLA deficiency and to the intracellular deposition of globotriaosylceramide (Gb3) within vascular endothelium and other tissues. It manifests as progressive multiple organ dysfunctions caused by the deposition of Gb3. On the other hand, congenital agammaglobulinemia is usually caused by mutations in Bruton's tyrosine kinase (Btk) gene with X-linked dominence, suppresses B cell maturation, and causes recurrent pyogenic infections. In former reports, the distance between the loci in the Xq22 region of the human X chromosome was found to be about 69 kilobases. A 23-yr-old man diagnosed with congenital agammaglobulinemia at age 5, showed typical clinical and laboratory and histopathological findings of Fabry's disease. The genetic basis of this combination of the two syndromes was studied in this patient. Here, we report a case of Fabry's disease with congenital agammaglobulinemia.

  11. Phase-contrast MRI and applications in congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Goldberg, A., E-mail: adgoldberg@geisinger.edu [Department of Radiology, Geisinger Health System, Danville, PA (United States); Jha, S. [Department of Radiology, Hospital of the University of Pennsylvania, Philadelphia, PA (United States)

    2012-05-15

    A review of phase-contrast magnetic resonance imaging techniques, with specific application to congenital heart disease, is presented. Theory, pitfalls, advantages, and specific examples of multiple, well-described congenital heart disease presentations are discussed.

  12. Marital stability and congenital heart disease.

    Science.gov (United States)

    Silbert, A R; Newburger, J W; Fyler, D C

    1982-06-01

    The incidence of divorce or legal separation was studied in 438 families of children born with heart disease who entered the New England Regional Infant Cardiac Program between 1968 and 1973. The parents were interviewed when the children were 5 1/2 years old. The rate of divorce in 438 families of children with critical congenital heart disease was not significantly different from the rate in two comparison groups: (1) 25 families of children whose cardiac defect was spontaneously cured, and (2) 26 families of children catheterized in infancy for suspected cardiac defect but who were found to be free of heart disease. Rates of divorce or legal separation for the three groups were: critical congenital heart disease, 12.1%, spontaneously cured, 4.2% free of heart disease, 11.5% these rates were not significantly different. The average national divorce rate was 20.3% for the same period.

  13. Congenital Heart Disease and General Practice

    NARCIS (Netherlands)

    W.B. de Koning (Wilfred)

    2012-01-01

    textabstractThe treatment of patients with congenital heart disease (CHD) has progressed vastly over the last five decennia. In the Netherlands, around 200,000 children are born each year, around 1,800 of whom have a CHD. This incidence – 6 – 8 per thousand live births – is reported to be similar ro

  14. Dermatoglyphic’s in Congenital Cardiac Disease

    Directory of Open Access Journals (Sweden)

    Singh Brijendra

    2016-03-01

    Full Text Available Various dermatoglyphic parameters like finger print pattern, atd angle, absolute ridge count & ab, bc ,cd, and ad ridge counts were observed in 150 cases of congenital cardiac disease, comprising of 72 cases of Ventricular Septal Defects (VSD, 60 cases of Atrial Septal Defects (ASD, 9 cases of Coarctation of Aorta (COA & 9 cases of Tetralogy of Fallot’s (TOF. Same dermatoglyphic parameters were also studied in 300 controls and statistical comparison of cases and controls was done. In our study it was observed that the congenital cardiac disease cases exhibited preponderance of whorls (55.8% with decrease in loop pattern (36.2% as compared to those of controls and the difference was highly significant (P<0.001. The difference in the mean total finger ridge count (TFRC of the controls and of the cases of Congenital Cardiac Diseases (CCD was found to be highly significant (P<0.001, while the  mean atd angle in the cases of Congenital Cardiac Disease (CCD was widen up and was statistically significant too. The mean ab, the mean bc ridge, the mean cd ridge and the mean ad ridge counts were also higher in the various type of CCD as compared to that controls and on statistical comparison, the difference was found to be highly significant.

  15. Gender and outcome in adult congenital heart disease

    NARCIS (Netherlands)

    Verheugt, Carianne L.; Uiterwaal, Cuno S. P. M.; van der Velde, Enno T.; Meijboom, Folkert J.; Pieper, Petronella G.; Vliegen, Hubert W.; van Dijk, Arie P. J.; Bouma, Berto J.; Grobbee, Diederick E.; Mulder, Barbara J. M.

    2008-01-01

    Background - Gender differences in prognosis have frequently been reported in cardiovascular disease but less so in congenital heart disease. We investigated whether gender is associated with outcome in adult patients with congenital heart disease. Methods and Results - From the CONgenital CORvitia

  16. Gender and outcome in adult congenital heart disease.

    NARCIS (Netherlands)

    Verheugt, C.L.; Uiterwaal, C.S.; Velde, E.T. van der; Meijboom, F.J.; Pieper, P.G.; Vliegen, H.W.; Dijk, A.P.J. van; Bouma, B.J.; Grobbee, D.E.; Mulder, B.J.M.

    2008-01-01

    BACKGROUND: Gender differences in prognosis have frequently been reported in cardiovascular disease but less so in congenital heart disease. We investigated whether gender is associated with outcome in adult patients with congenital heart disease. METHODS AND RESULTS: From the CONgenital CORvitia

  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: 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 bi

  19. Congenital heart disease in young adulthood and beyond

    NARCIS (Netherlands)

    Verheugt, C.L.

    2009-01-01

    Over 95% of children with congenital heart defects now reach adulthood and the number of adults with congenital heart disease is estimated to be at least 1.2 million in Europe alone. Despite major developments in diagnostic methods and treatment of congenital heart disease, cure is rarely achieved.

  20. [Relationship between congenital heart disease and bronchial dysplasia].

    Science.gov (United States)

    Zeng, Shuang-Lin; Li, Ya-Jun; Huang, Ting; Tan, Li-Hua; Mei, Xi-Long; Sun, Jian-Ning

    2011-11-01

    To study the relationship of the incidence of bronchial dysplasia (bronchial anomalous origin and bronchial stenosis) with congenital heart disease. A total of 185 children with congenital heart disease or bronchial dysplasia were enrolled. Bronchial dysplasia was identified by the 64-MSCT conventional scanning or thin slice scanning with three-dimensional reconstruction. Forty-five children (25.3%) had coexisting bronchial dysplasia and congenital heart disease. The incidence rate of bronchial dysplasia in children with congenital heart disease associated with ventricular septal defect was higher than in those without ventricular septal defect (33.7% vs 15.0%; Pdysplasia between the children with congenital heart disease who had a large vascular malformation and who did not. Bronchial dysplasia often occurs in children with congenital heart disease. It is necessary to perform a tracheobronchial CT scanning with three-dimensional reconstruction to identify tracheobronchial dysplasia in children with congenital heart disease, especially associated with ventricular septal defect.

  1. Airway tissue engineering for congenital laryngotracheal disease

    OpenAIRE

    Maughan, E.; Lesage, F; Butler, C. R.; Hynds, R.E. (Robert E.); Hewitt, R; Janes, S. M.; Deprest, J. A.; Coppi, P. D.

    2016-01-01

    Regenerative medicine offers hope of a sustainable solution for severe airway disease by the creation of functional, immunocompatible organ replacements. When considering fetuses and newborns, there is a specific spectrum of airway pathologies that could benefit from cell therapy and tissue engineering applications. While hypoplastic lungs associated with congenital diaphragmatic hernia (CDH) could benefit from cellular based treatments aimed at ameliorating lung function, patients with upper...

  2. [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.

  3. Airway tissue engineering for congenital laryngotracheal disease.

    Science.gov (United States)

    Maughan, Elizabeth; Lesage, Flore; Butler, Colin R; Hynds, Robert E; Hewitt, Richard; Janes, Sam M; Deprest, Jan A; Coppi, Paolo De

    2016-06-01

    Regenerative medicine offers hope of a sustainable solution for severe airway disease by the creation of functional, immunocompatible organ replacements. When considering fetuses and newborns, there is a specific spectrum of airway pathologies that could benefit from cell therapy and tissue engineering applications. While hypoplastic lungs associated with congenital diaphragmatic hernia (CDH) could benefit from cellular based treatments aimed at ameliorating lung function, patients with upper airway obstruction could take advantage from a de novo tissue engineering approach. Moreover, the international acceptance of the EXIT procedure as a means of securing the precarious neonatal airway, together with the advent of fetal surgery as a method of heading off postnatal co-morbidities, offers the revolutionary possibility of extending the clinical indication for tissue-engineered airway transplantation to infants affected by diverse severe congenital laryngotracheal malformations. This article outlines the necessary basic components for regenerative medicine solutions in this potential clinical niche. Copyright © 2016. Published by Elsevier Inc.

  4. Virtual Surgery in Congenital Heart Disease

    DEFF Research Database (Denmark)

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

    2014-01-01

     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...... 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...

  5. Virtual Surgery in Congenital Heart Disease

    DEFF Research Database (Denmark)

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

    2014-01-01

     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...... 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...

  6. 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.

  7. Ocular pathology in congenital heart disease.

    Science.gov (United States)

    Mansour, A M; Bitar, F F; Traboulsi, E I; Kassak, K M; Obeid, M Y; Megarbane, A; Salti, H I

    2005-01-01

    To describe the ocular findings in subjects with congenital heart disease (CHD). In a prospective study, the same observer examined 240 consecutive patients with CHD admitted to the medical centre. Two independent geneticists performed identification of syndromes. The commonest anatomic cardiac anomalies were ventricular or atrial septal defects (62), tetralogy of Fallot (39), pulmonary stenosis (25), and transposition of the great arteries (24). The heart lesions were divided physiologically into volume overload (90), cyanotic (87), and obstructive (63). In all, 105 syndromic subjects included the velocardiofacial syndrome (18), Down's syndrome (17), CHARGE association (6), DiGeorge syndrome (5), Williams syndrome (3), Edwards syndrome (3), Noonan syndrome (3), VACTERL association (2), and Patau syndrome (trisomy 13) (2). The paediatric team recognized 51 patients as syndromic. Two independent geneticists recognized additional 54 patients as syndromic. Positive eye findings were present in 55% (132) and included retinal vascular tortuosity (46), optic disc hypoplasia (30), trichomegaly (15), congenital ptosis (12), strabismus (11), retinal haemorrhages (8), prominent eyes (7), and congenital cataract (6). There was a strong correlation between the retinal vascular tortuosity and both a low haematocrit (P=0.000) and a low arterial oxygen saturation (P=0.002). Patients with CHD are at a high risk for ocular pathology and need screening for various ocular abnormalities.

  8. Of mice and men: molecular genetics of congenital heart disease.

    Science.gov (United States)

    Andersen, Troels Askhøj; Troelsen, Karin de Linde Lind; Larsen, Lars Allan

    2014-04-01

    Congenital heart disease (CHD) affects nearly 1 % of the population. It is a complex disease, which may be caused by multiple genetic and environmental factors. Studies in human genetics have led to the identification of more than 50 human genes, involved in isolated CHD or genetic syndromes, where CHD is part of the phenotype. Furthermore, mapping of genomic copy number variants and exome sequencing of CHD patients have led to the identification of a large number of candidate disease genes. Experiments in animal models, particularly in mice, have been used to verify human disease genes and to gain further insight into the molecular pathology behind CHD. The picture emerging from these studies suggest that genetic lesions associated with CHD affect a broad range of cellular signaling components, from ligands and receptors, across down-stream effector molecules to transcription factors and co-factors, including chromatin modifiers.

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

    Science.gov (United States)

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2016-11-02

    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.

  10. Anatomical assessment of congenital heart disease.

    Science.gov (United States)

    Wood, John C

    2006-01-01

    Cardiac MRI (CMR) is replacing diagnostic cardiac catheterization as the modality of choice for anatomic and functional characterization of congenital heart disease (CHD) when echocardiographic imaging is insufficient. In this manuscript, we discuss the principles of anatomic imaging of CHD, placing emphasis on the appropriate choice and modification of pulse sequences necessary to evaluate infants and small children. Clinical examples are provided to illustrate the relative strengths and shortcomings of different CMR imaging techniques. Although cardiovascular function and flow techniques are not described, their role in evaluating the severity of anatomic defects is emphasized. Anatomic characterization represents the first component of a carefully-planned, integrated CMR assessment of CHD.

  11. 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.

  12. Keeping children with congenital heart disease healthy.

    Science.gov (United States)

    Woodward, Cathy S

    2011-01-01

    Keeping children with congenital heart disease healthy is vital to their long-term survival and quality of life. Nurse practitioners are in an excellent position to keep these sometimes fragile children healthy before, between, and after their cardiac surgeries. Primary care visits should address developmental morbidity. Referral for in-depth evaluations and intervention should be initiated for children with hemodynamically significant heart disease. Infants may also experience poor feeding. Nutritional guidance may include fortifying formulas or enteral tube feedings. Attention to immunization status and prevention of winter illnesses and endocarditis may reduce complications in this high-risk group of children. Copyright © 2011 National Association of Pediatric Nurse Practitioners. Published by Mosby, Inc. All rights reserved.

  13. Sports participation in adults with congenital heart disease

    NARCIS (Netherlands)

    P. Opic (Petra); E.M.W.J. Utens (Elisabeth); J.A.A.E. Cuypers (Judith); M. Witsenburg (Maarten); A.E. van den Bosch (Annemien); Domburg, R.V. (Ron Van); A.J.J.C. Bogers (Ad); H. Boersma (Eric); Pelliccia, A. (Antonio); J.W. Roos-Hesselink (Jolien)

    2015-01-01

    textabstractBackground: It is unclearwhether sports participation in adultswith repaired congenital heart disease is safe and has benefits. Methods: Congenital heart disease (ConHD) patients who underwent corrective surgery for Atrial Septal Defect, Ventricular Septal Defect, Pulmonary Stenosis, Tet

  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. 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 com

  16. 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

  17. 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

    2014-02-01

    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. 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. 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. 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 at the time of diagnosis are: abnormal enteric protein loss was

  18. Incidence of congenital heart disease in Beijing, China

    Institute of Scientific and Technical Information of China (English)

    YANG Xue-yong; LI Xiao-feng; L(U) Xiao-dong; LIU Ying-long

    2009-01-01

    Background The incidence of congenital heart disease has been studied in developed countries for many years, but rarely in the mainland of China. Fetal echocardiographic screening for congenital heart disease was first performed in Beijing in the early 2000s, but the impact was not clear. The current study was undertaken to determine the incidence of congenital heart disease in Beijing, China and to estimate the impact of fetal echocardiography on the incidence of liveborn congenital heart disease.Methods The study involved all infants with congenital heart disease among the 84 062 total births in Beijing during the period of January 1 and December 31, 2007. An echocardiographic examination was performed on every baby suspected to have congenital heart disease, prenatally or/and postnatally.Results A total of 686 infants were shown to have congenital heart disease among 84 062 total births. The overall incidence was 8.2/1000 total births. Mothers of 128 of 151 babies diagnosed prenatally were chosen to terminate the pregnancy. Two of the 151 infants died in utero. A specific lesion was identified for each infant and the frequencies of lesions were determined for each class of infants (total births, stillbirths and live births). The incidence of congenital heart disease in stillbirths and live births was 168.8/1000 and 6.7/1000, respectively. The difference between the incidence of total birth and the incidence of live birth was statistically significant (P<0.001).Conclusions The incidence of liveborn congenital heart disease in Beijing is within the range reported in developed countries. Fetal echocardiography reduce significantly the incidence of livebom congenital heart disease.

  19. Planar Cell Polarity Signaling Pathway in Congenital Heart Diseases

    Directory of Open Access Journals (Sweden)

    Gang Wu

    2011-01-01

    Full Text Available Congenital heart disease (CHD is a common cardiac disorder in humans. Despite many advances in the understanding of CHD and the identification of many associated genes, the fundamental etiology for the majority of cases remains unclear. The planar cell polarity (PCP signaling pathway, responsible for tissue polarity in Drosophila and gastrulation movements and cardiogenesis in vertebrates, has been shown to play multiple roles during cardiac differentiation and development. The disrupted function of PCP signaling is connected to some CHDs. Here, we summarize our current understanding of how PCP factors affect the pathogenesis of CHD.

  20. 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.

  1. 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

  2. [Congenital atrioventricular block and maternal autoimmune diseases].

    Science.gov (United States)

    Herreman, G; Sauvaget, F; Généreau, T; Galezowski, N

    1990-01-01

    Congenital heart block is rare; it is acquired in utero, definitive and, more often than not, complete. It can be diagnosed by the appearance of fetal bradycardia around the 23rd week of gestation, during ultrasonographic monitoring of pregnancy. Heart block is usually associated with the presence of anti-Ro and/or anti-La antibodies in the mother's serum. These maternal immunological abnormalities can be isolated or associated with an autoimmune disease, usually systemic lupus erythematosus, but also Sjögren's syndrome, or more rarely still, an as yet unclassified connective tissue disease. Anti-Ro and anti-La antibodies cross the placental barrier and react with a fetal heart, leading to acute fetal myocarditis by the 17th week of gestation. When severe, it is lethal, otherwise it can result in degeneration and endocardial fibroelastosis, disrupting conduction and leading to congenital heart block. The ideal treatment would be prevention with corticosteroids. When the mother is Ro or La antibody-positive before pregnancy, elimination of these circulating antibodies can be attempted by treatment with 0.5 mg/kg body wt/d of prednisolone for 3 months. If the treatment is successful, corticotherapy can be prescribed early in the pregnancy to try to protect the fetus. However, there is not always a relationship between maternal anti-Ro antibodies and fetal heart block. If the Ro/La antibody-positive woman is already pregnant, but before her 17th week, it is possible to prescribe dexamethasone, which crosses the placenta and remains active, sometimes in association with plasmapheresis.

  3. Postnatal Cardiac Autonomic Nervous Control in Pediatric Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Ineke Nederend

    2016-04-01

    Full Text Available Congenital heart disease is the most common congenital defect. During childhood, survival is generally good but, in adulthood, late complications are not uncommon. Abnormal autonomic control in children with congenital heart disease may contribute considerably to the pathophysiology of these long term sequelae. This narrative review of 34 studies aims to summarize current knowledge on function of the autonomic nervous system in children with a congenital heart defect. Large scale studies that measure both branches of the nervous system for prolonged periods of time in well-defined patient cohorts in various phases of childhood and adolescence are currently lacking. Pending such studies, there is not yet a good grasp on the extent and direction of sympathetic and parasympathetic autonomic function in pediatric congenital heart disease. Longitudinal studies in homogenous patient groups linking autonomic nervous system function and clinical outcome are warranted.

  4. Evaluation of congenital heart disease by magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Roos, A. de; Roest, A.A.W. [Department of Radiology, Leiden University Medical Center (Netherlands)

    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.)

  5. 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.

  6. Relationship between TBX20 gene polymorphism and congenital heart disease.

    Science.gov (United States)

    Yang, X F; Zhang, Y F; Zhao, C F; Liu, M M; Si, J P; Fang, Y F; Xing, W W; Wang, F L

    2016-06-02

    Congenital heart disease in children is a type of birth defect. Previous studies have suggested that the transcription factor, TBX20, is involved in the occurrence and development of congenital heart disease in children; however, the specific regulatory mechanisms are yet to be evaluated. Hence, this study aimed to evaluate the relationship between the TBX20 polymorphism and the occurrence and development of congenital heart disease. The TBX20 gene sequence was obtained from the NCBI database and the polymorphic locus candidate was predicted. Thereafter, the specific gene primers were designed for the restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) of DNA extracted from the blood of 80 patients with congenital heart disease and 80 controls. The results of the PCR were subjected to correlation analysis to identify the differences between the amplicons and to determine the relationship between the TBX20 gene polymorphism and congenital heart disease. One of the single nucleotide polymorphic locus was found to be rs3999950: c.774T>C (Ala265Ala). The TC genotype frequency in the patients was higher than that in the controls, similar to that for the C locus. The odds ratio of the TC genotypes was above 1, indicating that the presence of the TC genotype increases the incidence of congenital heart diseases. Thus, rs3999950 may be associated with congenital heart disease, and TBX20 may predispose children to the defect.

  7. 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.

  8. Prevalence of Congenital Heart Diseases in Children with Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Mohamed Abdel Megied Abo El-Magd

    2013-04-01

    Full Text Available The aim of the work was to assess the prevalence of cardiac anomalies in primary congenital hypothyroidism (PCH patients. Fifty patients with PCH recruited after diagnosis by ultrasonography or scintigraphy (64% Dysgenesis, 36% Dyshormonogenesis. The prevalence of cardiac anomalies was 18%, with renal anomalies being 8%. There was no significant difference in the longitudinal follow-up of growth and sexual maturation between a hypothyroid with and without anomalies. Statistically significant difference was found with replacement therapy of both groups. Hence, echocardiography should be done to screen this birth defect as soon as possible so as to prevent or delay the possible complications. [Arch Clin Exp Surg 2013; 2(2.000: 85-91

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

    OpenAIRE

    2016-01-01

    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 t...

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

    OpenAIRE

    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 ...

  11. 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.

  12. Heart transplantation in adult congenital heart disease.

    Science.gov (United States)

    Burchill, Luke J

    2016-12-01

    Heart failure (HF) in adult congenital heart disease (ACHD) is vastly different to that observed in acquired heart disease. Unlike acquired HF in which pharmacological strategies are the cornerstone for protecting and improving ventricular function, ACHD-related HF relies heavily upon structural and other interventions to achieve these aims. patients with ACHD constitute a small percentage of the total adult heart transplant population (∼3%), although the number of ACHD heart transplant recipients is growing rapidly with a 40% increase over the last two decades. The worldwide experience to date has confirmed heart transplantation as an effective life-extending treatment option in carefully selected patients with ACHD with end-stage cardiac disease. Opportunities for improving outcomes in patients with ACHD-related HF include (i) earlier recognition and referral to centres with combined expertise in ACHD and HF, (ii) increased awareness of arrhythmia and sudden cardiac death risk in this population, (iii) greater collaboration between HF and ACHD specialists at the time of heart transplant assessment, (iv) expert surgical planning to reduce ischaemic time and bleeding risk at the time of transplant, (v) tailored immunosuppression in the post-transplant period and (vi) development and validation of ACHD-specific risk scores to predict mortality and guide patient selection. The purpose of this article is to review current approaches to diagnosing and treating advanced HF in patients with ACHD including indications, contraindications and clinical outcomes after heart transplantation. 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/.

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

    African Journals Online (AJOL)

    ABEOLUGBENGAS

    Key words:Down syndrome, congenital heart diseases, pattern, Sokoto ... Research Journal of Health Sciences subscribed to terms and conditions of Open Access publication. Articles are .... information such as age, gender, mobile phone.

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

    African Journals Online (AJOL)

    Congenital Heart Diseases in Adults: A Review of Echocardiogram Records in Enugu, South‑East Nigeria. ... Annals of Medical and Health Sciences Research ... Enugu, and to determine whether there are any gender differences in frequency.

  15. 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. ... Children with CHD were 3 and 256 times more likely to

  16. The Spectrum of Paediatric Congenital Heart Disease at The ...

    African Journals Online (AJOL)

    January 2013 Volume 10 Issue 1. 8. The ANNALS of ... Congenital Heart Disease (CHD) is a significant cause of morbidity and ... selected CHD lesions was examined and compared with .... time of conception and that the prevalence of severe.

  17. Right Ventricular Adaptation in Congenital Heart Diseases

    Directory of Open Access Journals (Sweden)

    Beatrijs Bartelds

    2014-05-01

    Full Text Available In the last four decades, enormous progress has been made in the treatment of congenital heart diseases (CHD; most patients now survive into adulthood, albeit with residual lesions. As a consequence, the focus has shifted from initial treatment to long-term morbidity and mortality. An important predictor for long-term outcome is right ventricular (RV dysfunction, but knowledge on the mechanisms of RV adaptation and dysfunction is still scarce. This review will summarize the main features of RV adaptation to CHD, focusing on recent knowledge obtained in experimental models of the most prevalent abnormal loading conditions, i.e., pressure load and volume load. Models of increased pressure load for the RV have shown a similar pattern of responses, i.e., increased contractility, RV dilatation and hypertrophy. Evidence is accumulating that RV failure in response to increased pressure load is marked by progressive diastolic dysfunction. The mechanisms of this progressive dysfunction are insufficiently known. The RV response to pressure load shares similarities with that of the LV, but also has specific features, e.g., capillary rarefaction, oxidative stress and inflammation. The contribution of these pathways to the development of failure needs further exploration. The RV adaptation to increased volume load is an understudied area, but becomes increasingly important in the growing groups of survivors of CHD, especially with tetralogy of Fallot. Recently developed animal models may add to the investigation of the mechanisms of RV adaptation and failure, leading to the development of new RV-specific therapies.

  18. Familial congenital heart disease in Bandung, Indonesia

    Directory of Open Access Journals (Sweden)

    Sri Endah Rahayuningsih

    2013-01-01

    Full Text Available Background Congenital heart disease (CHD may occur in several members of a family. Studies have shown that familial genetic factor play a role in CHD.Objective To identify familial recurrences of CHD in families with at least one member treated for CHD in Dr. Hasan Sadikin Hospital, Bandung Indonesia.Methods In this descriptive study, subjects were CHD patients hospitalized or treated from January 2005 to December 2011. We constructed family pedigrees for five families.Results During the study period, there were 1,779 patients with CHD. We found 5 families with 12 familial CHD cases, consisting of 8 boys and 4 girls. Defects observed in these 12 patients were tetralogy of Fallot, transposition of the great arteries, persistent ductus arteriosus, ventricular septal defect, tricuspid atresia, pulmonary stenosis, and dilated cardiomyopathy. Persistent ductus arteriosus was the most frequently observed defect (4 out of 12 subjects. None of the families had a history of consanguinity. The recurrence risk of CHD among siblings was calculated to be 0.67%, and the recurrence risk of CHD among cousins was 0.16%.Conclusion Familial CHD may indicate the need for genetic counseling and further pedigree analysis.

  19. Familial congenital heart disease in Bandung, Indonesia

    Directory of Open Access Journals (Sweden)

    Sri Endah Rahayuningsih

    2013-03-01

    Full Text Available Background Congenital heart disease (CHD may occur in several members of a family. Studies have shown that familial genetic factor play a role in CHD. Objective To identify familial recurrences of CHD in families with at least one member treated for CHD in Dr. Hasan Sadikin Hospital, Bandung Indonesia. Methods In this descriptive study, subjects were CHD patients hospitalized or treated from January 2005 to December 2011. We constructed family pedigrees for five families. Results During the study period, there were 1,779 patients with CHD. We found 5 families with 12 familial CHD cases, consisting of 8 boys and 4 girls. Defects observed in these 12 patients were tetralogy of Fallot, transposition of the great arteries, persistent ductus arteriosus, ventricular septal defect, tricuspid atresia, pulmonary stenosis, and dilated cardiomyopathy. Persistent ductus arteriosus was the most frequently observed defect (4 out of 12 subjects. None of the families had a history of consanguinity. The recurrence risk of CHD among siblings was calculated to be 0.67%, and the recurrence risk of CHD among cousins was 0.16%. Conclusion Familial CHD may indicate the need for genetic counseling and further pedigree analysis. [Paediatr Indones. 2013;53:173-6.

  20. Cardiac transplantation for pediatric patients. With inoperable congenital heart disease.

    OpenAIRE

    Shaffer, K M; Denfield, S W; Schowengerdt, K O; Towbin, J A; Radovancević, B; Frazier, O. H.; Price, J K; Gajarski, R J

    1998-01-01

    Recent studies have reported the expanding use of transplantation as the definitive option for pediatric patients with inoperable congenital heart disease. This study compares perioperative risk factors and outcomes in pediatric patients who received heart transplants for congenital heart disease with those in pediatric patients who received heart transplants for cardiomyopathy. Retrospective data collected on 40 consecutive pediatric patients undergoing cardiac transplantation from 1 January...

  1. Physical rehabilitation of congenital heart disease as a social problem

    OpenAIRE

    Іrina Kulchenko

    2015-01-01

    Purpose: to attract the attention to the problem of physical rehabilitation of congenital heart diseases. Material and Methods: analyzed the domestic and foreign scientific and methodological literature on the problems of the physical rehabilitation of congenital heart disease. Results: in the domestic literature lacks modern works on the subject. Foreign literature sources indicate the positive impact of the programs of physical rehabilitation on exercise tolerance, health and quality of lif...

  2. Expressing human SHOX in Shox2SHOX KI/KI mice leads to congenital osteoarthritis‑like disease of the temporomandibular joint in postnatal mice.

    Science.gov (United States)

    Liang, Wenna; Li, Xihai; Chen, Houhuang; Shao, Xiang; Lin, Xuejuan; Shen, Jianying; Ding, Shanshan; Kang, Jie; Li, Candong

    2016-10-01

    The temporomandibular joint (TMJ), a unique synovial joint whose development differs from that of other synovial joints, develops from two distinct mesenchymal condensations that grow toward each other and ossify through different mechanisms. The short stature homeobox 2 (Shox2) gene serves an important role in TMJ development and previous studies have demonstrated that Shox2SHOX KI/KI mice display a TMJ defective phenotype, congenital dysplasia and premature eroding of the articular disc, which is clinically defined as a TMJ disorder. In the present study, Shox2SHOX KI/KI mouse models were used to investigate the mechanisms of congenital osteoarthritis (OA)‑like disease during postnatal TMJ growth. Shox2SHOX KI/KI mice were observed to develop a severe muscle wasting syndrome from day 7 postnatal. Histological examination indicated that the condyle and glenoid fossa of Shox2SHOX KI/KI mice was reduced in size in the second week after birth. The condyles of Shox2SHOX KI/KI mice exhibited reduced expression levels of collagen type II and Indian hedgehog, and increased expression of collagen type I. A marked increase in matrix metalloproteinase 9 (MMP9) and MMP13 in the condyles was also observed. These cellular and molecular defects may contribute to the observed (OA)‑like phenotype of Shox2SHOX KI/KI mouse TMJs.

  3. 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

    2017-02-22

    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.

  4. Device complications in adult congenital heart disease.

    Science.gov (United States)

    Hayward, Robert M; Dewland, Thomas A; Moyers, Brian; Vittinghoff, Eric; Tanel, Ronn E; Marcus, Gregory M; Tseng, Zian H

    2015-02-01

    Pacemakers and implantable cardioverter-defibrillators (ICDs) are increasingly implanted in adults with congenital heart disease (CHD), but little is known about implant-related complications and mortality. The purpose of this study was to compare pacemaker and ICD implantation complication rates between adults with and those without CHD using a comprehensive, statewide database. We used the Healthcare Cost and Utilization Project database to identify initial transvenous pacemaker and ICD implantations and implant-related complications in California hospitals from January 1, 2005, to December 31, 2011. We calculated relative risks of implant-related complications by comparing those with and those without CHD using Poisson regression with robust standard errors, adjusting for age and medical comorbidities. We identified 105,852 patients undergoing pacemaker implantation, 1465 with noncomplex CHD and 66 with complex CHD. CHD was not associated with increased risk of pacemaker implant-related complications: adjusted risk ratio (aRR) 0.92, 95% confidence interval (CI) 0.74-1.14, P = .45. We identified 32,948 patients undergoing ICD implantation, 815 with noncomplex CHD and 87 with complex CHD. Patients with CHD had increased risk of ICD implant-related complications: aRR 1.36, 95% CI 1.05-1.76, P = .02. Patients with complex CHD had greater increased risk of ICD implant-related complications: aRR 2.14, 95% CI 1.16-3.95, P = .02. In patients receiving devices, CHD was associated with a trend toward lower 30-day in-hospital mortality after pacemaker (P = .07) and ICD (P = .19) implantation. Among adult patients undergoing device implantation in California, CHD was associated with increased risk of ICD implant-related complications, but not pacemaker implant-related complications or higher 30-day in-hospital mortality. Copyright © 2015 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  5. 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.

  6. 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

  7. Lafora Disease and Congenital Generalized Lipodystrophy: A Case Report

    Directory of Open Access Journals (Sweden)

    Chih-Fan Tseng

    2009-12-01

    Full Text Available We report a patient with congenital generalized lipodystrophy who had suffered from seizures, myoclonus, ataxia and cognitive decline since late childhood. Lafora disease was diagnosed based on skin biopsy results, which revealed pathognomonic Lafora bodies. The results of genetic analysis for mutations in EPM2A and EPM2B genes were negative. This is the first case report describing an association between congenital generalized lipodystrophy and Lafora disease. Further studies focusing on the relationship between these two diseases and the identification of a third locus for Lafora disease are needed.

  8. The tricuspid valve in adult congenital heart disease.

    Science.gov (United States)

    Ginns, Jonathan; Ammash, Naser; Bernier, Pierre-Luc

    2014-01-01

    The tricuspid valve is frequently affected in adults with congenital heart disease but is also frequently overlooked. Disease of this valve can occur primarily or develop secondary to changes in the right ventricle caused by other disease states. The embryology and anatomy of the tricuspid valve are important to understanding pathogenesis of valve dysfunction in congenital heart disease. Clinical findings can be subtle. Multimodality imaging may be necessary to fully assess the cause and impact of tricuspid valve lesions. More research is needed in pathophysiology, imaging, and treatment in this area. Copyright © 2014 Elsevier Inc. All rights reserved.

  9. Echocardiographic evaluation of coronary arteries in congenital heart disease.

    Science.gov (United States)

    Freire, Grace; Miller, Michelle S

    2015-12-01

    Among populations of patients with the congenital heart disease, there is considerable diversity in the anatomy of the coronary arteries. Understanding these anatomical differences is vitally important in directing interventions and surgical repair. In this report, the authors describe the echocardiographic evaluation of the variants of coronary artery anatomy in the following lesions: transposition of the great arteries, congenitally corrected transposition of the great arteries, double-inlet left ventricle, common arterial trunk, tetralogy of Fallot, and double-outlet right ventricle.

  10. 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.

  11. Pregnancy in women with congenital heart disease

    NARCIS (Netherlands)

    Greutmann, Matthias; Pieper, Petronella G.

    2015-01-01

    Congenital heart defects are the most common birth defects. Major advances in open-heart surgery have led to rapidly evolving cohorts of adult survivors and the majority of affected women now survive to childbearing age. The risk of cardiovascular complications during pregnancy and peripartum depend

  12. Spectrum of congenital heart diseases in Kashmir, India.

    Science.gov (United States)

    Ashraf, Mohd; Chowdhary, J; Khajuria, K; Reyaz, A M

    2009-12-01

    A retrospective analysis of case-records data of 53,653 patients (0-18 years) over a two and half year period was conducted to ascertain the spectrum of congenital heart diseases. Two hundred and twenty one patients were found having congenital heart diseases; a prevalence of 4.1/1000. Ventricular septal defect (VSD) was the most frequent lesion seen in 69 (31.2%), followed by patent ductus arteriosus (PDA) in 36 (16.3%) children. Tetralogy of Fallot (TOF) was the most frequent cyanotic heart disease seen in 17 (7.8%) patients.

  13. Non-congenital heart disease associated pediatric pulmonary arterial hypertension

    OpenAIRE

    Ivy, D D; Feinstein, J. A.; Humpl, T; Rosenzweig, E. B.

    2009-01-01

    Recognition of causes of pulmonary hypertension other than congenital heart disease is increasing in children. Diagnosis and treatment of any underlying cause of pulmonary hypertension is crucial for optimal management of pulmonary hypertension. This article discusses the available knowledge regarding several disorders associated with pulmonary hypertension in children: idiopathic pulmonary arterial hypertension (IPAH), pulmonary capillary hemangiomatosis, pulmonary veno-occlusive disease, he...

  14. Educational assessment of the adult with congenital heart disease.

    Science.gov (United States)

    Day, M J

    1994-06-01

    Adults with congenital heart disease (CHD) have specific educational needs that are influenced by a variety of factors. This article identifies and discusses learning needs and factors that impact educational outcomes for the adult CHD patient population. Assessment techniques and an assessment tool are presented to guide the nurse through the process of assessing an adult patient seeking health care for this disease.

  15. Screening of 99 Danish patients with congenital heart disease for GATA4 mutations

    DEFF Research Database (Denmark)

    Zhang, Litu; Tümer, Zeynep; Jacobsen, Joes Ramsøe;

    2006-01-01

    Congenital heart disease (CHD) affects nearly 1% of the population, but only few genes involved in human CHD are presently known. Germ-line mutations in the zinc finger transcription factor GATA4 have been associated with familial cases of atrial and ventricular septal defects and pulmonary...

  16. Gluten Sensitivity among Egyptian Infants with Congenital Heart Disease

    Science.gov (United States)

    El-Alameey, Inas R.; Ahmed, Hanaa H.; Tawfik, Sawsan M.; Hassaballa, Fawzia; Gawad, Ayman M. Abdel; Eltahlawy, Eman

    2017-01-01

    BACKGROUND: Gastrointestinal symptoms are a common feature in infants with congenital heart disease. AIM: This study was designed to evaluate age-dependent serum levels of antigliadin antibodies among malnourished Egyptian infants with congenital heart disease (CHD) and gastrointestinal symptoms. SUBJECTS AND METHODS: This case-control study conducted on 60 infants with established congenital heart disease. They were subdivided into cyanotic and acyanotic groups, and each group includes 30 patients compared with thirty apparently healthy infants of matched age, sex, and social class. Serum antigliadin antibodies levels were measured using ELISA. RESULTS: The mean age of introduction of cereals in the diet and appearance of gastrointestinal symptoms were six months. On comparison with controls, patients showed highly significant higher serum levels of antigliadin antibodies (P Gluten containing foods should never be introduced before the end of the six months. PMID:28293318

  17. Assessment of Diastolic Function in Congenital Heart Disease

    Science.gov (United States)

    Panesar, Dilveer Kaur; Burch, Michael

    2017-01-01

    Diastolic function is an important component of left ventricular (LV) function which is often overlooked. It can cause symptoms of heart failure in patients even in the presence of normal systolic function. The parameters used to assess diastolic function often measure flow and are affected by the loading conditions of the heart. The interpretation of diastolic function in the context of congenital heart disease requires some understanding of the effects of the lesions themselves on these parameters. Individual congenital lesions will be discussed in this paper. Recently, load-independent techniques have led to more accurate measurements of ventricular compliance and remodeling in heart disease. The combination of inflow velocities and tissue Doppler measurements can be used to estimate diastolic function and LV filling pressures. This review focuses on diastolic function and assessment in congenital heart disease.

  18. 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.)

  19. Cardiac resynchronization therapy in congenital heart disease.

    Science.gov (United States)

    Janoušek, Jan; Kubuš, Peter

    2016-06-01

    Cardiac resynchronization therapy (CRT) is an established treatment option for adult patients suffering heart failure due to idiopathic or ischemic cardiomyopathy associated with electromechanical dyssynchrony. There is limited evidence suggesting similar efficacy of CRT in patients with congenital heart disease (CHD). Due to the heterogeneity of structural and functional substrates, CRT implantation techniques are different with a thoracotomy or hybrid approach prevailing. Efficacy of CRT in CHD seems to depend on the anatomy of the systemic ventricle with best results achieved in systemic left ventricular patients upgraded to CRT from conventional pacing. Indications for CRT in patients with CHD were recently summarized in the Pediatric and Congenital Electrophysiology Society (PACES) and the Heart Rhythm Society (HRS) Expert Consensus Statement on the Recognition and Management of Arrhythmias in Adult Congenital Heart Disease and are presented in the text.

  20. Mouse Model of Human Congenital Heart Disease: Progressive Atrioventricular Block Induced by a Heterozygous Nkx2-5 Homeodomain Missense Mutation.

    Science.gov (United States)

    Chowdhury, Rajib; Ashraf, Hassan; Melanson, Michelle; Tanada, Yohei; Nguyen, Minh; Silberbach, Michael; Wakimoto, Hiroko; Benson, D Woodrow; Anderson, Robert H; Kasahara, Hideko

    2015-10-01

    Heterozygous human NKX2-5 homeodomain (DNA-binding domain) missense mutations are highly penetrant for varied congenital heart defects, including progressive atrioventricular (AV) block requiring pacemaker implantation. We recently replicated this genetic defect in a murine knockin model, in which we demonstrated highly penetrant, pleiotropic cardiac anomalies. In this study, we examined postnatal AV conduction in the knockin mice. A murine knockin model (Arg52Gly, Nkx2-5(+/R52G)) in a 129/Sv background was analyzed by histopathology, surface, and telemetry ECG, and in vivo electrophysiology studies, comparing with control Nkx2-5(+/+) mice at diverse postnatal stages, ranging from postnatal day 1 (P1) to 17 months. PR prolongation (first degree AV block) was present at 4 weeks, 7 months, and 17 months of age, but not at P1 in the mutant mice. Advanced AV block was also occasionally demonstrated in the mutant mice. Electrophysiology studies showed that AV nodal function and right ventricular effective refractory period were impaired in the mutant mice, whereas sinus nodal function was not affected. AV nodal size was significantly smaller in the mutant mice than their controls at 4 weeks of age, corresponding to the presence of PR prolongation, but not P1, suggesting, at least in part, that the conduction abnormalities are the result of a morphologically atrophic AV node. The highly penetrant and progressive AV block phenotype seen in human heterozygous missense mutations in NKX2-5 homeodomain was replicated in mice by knocking in a comparable missense mutation. © 2015 American Heart Association, Inc.

  1. Early complications of stenting in patients with congenital heart disease : a multicentre study

    NARCIS (Netherlands)

    van Gameren, Menno; Witsenburg, Maarten; Takkenberg, Johanna J. M.; Boshoff, Derize; Mertens, Luc; van Oort, Anton M.; de Wolf, DanieL; Freund, Matthias; Sreeram, Narayanswani; Bokenkamp, Regina; Talsma, Melle D.; Gewillig, Marc

    2006-01-01

    Aims Stenting has become an established interventional cardiology procedure for congenital heart disease. Although most stent procedures are completed successfully, complications may occur. This multicentre study evaluated early complications after stenting in patients with congenital heart disease,

  2. The emerging burden of hospital admissions of adults with congenital heart disease

    NARCIS (Netherlands)

    Verheugt, Carianne L.; Uiterwaal, Cuno S. P. M.; van der Velde, Enno T.; Meijboom, Folkert J.; Pieper, Petronella G.; Sieswerda, Gertjan Tj; Plokker, Herbert W. M.; Grobbee, Diederick E.; Mulder, Barbara J. M.

    Objective To assess the extent and the characteristics of hospital admissions in registered adult patients with congenital heart disease. Design Observational cohort study. Setting The Netherlands. Patients 5798 adult patients with congenital heart disease from the Dutch CONCOR national registry

  3. The emerging burden of hospital admissions of adults with congenital heart disease

    NARCIS (Netherlands)

    Verheugt, C.L.; Uiterwaal, C.S.P.M.; van der Velde, E.T.; Meijboom, F.J.; Pieper, P.G.; Sieswerda, G.T.; Plokker, H.W.M.; Grobbee, D.E.; Mulder, B.J.M.

    2010-01-01

    Objective To assess the extent and the characteristics of hospital admissions in registered adult patients with congenital heart disease. Design Observational cohort study. Setting The Netherlands. Patients 5798 adult patients with congenital heart disease from the Dutch CONCOR national registry

  4. 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.

  5. Chagas’ Disease: Pregnancy and Congenital Transmission

    Directory of Open Access Journals (Sweden)

    Ana María Cevallos

    2014-01-01

    Full Text Available Chagas disease is a chronic infection that kills approximately 12,000 people a year. Mass migration of chronically infected and asymptomatic persons has caused globalization of Chagas disease and has made nonvectorial infection, including vertical and blood-borne transmission, more of a threat to human communities than vectorial infection. To control transmission, it is essential to test all pregnant women living in endemic countries and all pregnant women having migrated from, or having lived in, endemic countries. All children born to seropositive mothers should be tested not only within the first month of life but also at ~6 months and ~12 months of age. The diagnosis is made by identification of the parasite in blood before the age of 6 months and by identification of the parasite in blood and/or positive serology after 10 months of age. Follow up for a year is essential as a significant proportion of cases are initially negative and are only detected at a later stage. If the condition is diagnosed and treated early, the clinical response is excellent and the majority of cases are cured.

  6. [Central congenital hypothyroidism due to Graves' disease in the mother

    NARCIS (Netherlands)

    Liebrand, C.A.; Mol, A.C. de; Kempers, M.J.E.; Noordam, C.

    2006-01-01

    Two male twins were born at a gestational age of 30 weeks. Five days after delivery, the mother was diagnosed with Graves' disease. The thyroid function in the neonates was therefore evaluated, which led to the detection of central congenital hypothyroidism (central CHT), even though the neonatal

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

    NARCIS (Netherlands)

    Driessen, Mieke M P; Breur, Johannes M. P. J.; Budde, Ricardo P J; van Oorschot, Joep W M; van Kimmenade, Roland R J; Sieswerda, Gertjan Tj.; Meijboom, Folkert J; Leiner, Tim

    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 advan

  8. 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…

  9. Sotalol for atrial tachycardias after surgery for congenital heart disease

    NARCIS (Netherlands)

    BeaufortKrol, GCM; BinkBoelkens, MTE

    1997-01-01

    Atrial tachycardias, in particular atrial flutter after surgery for congenital heart disease, is associated with a high mortality. Treatment with various antiarrhythmic drugs and/or antitachycardia pacemakers is not very successful. Sotalol, a Class III drug, has shown to be a promising drug in adul

  10. Chance of surgery in adult congenital heart disease

    NARCIS (Netherlands)

    Verheugt, Carianne L.; Uiterwaal, Cuno S. P. M.; Vaartjes, Ilonca; van der Velde, Enno T.; Zomer, A. C.; Meijboom, Folkert J.; Pieper, Petronella G.; Post, Marco C.; Vliegen, Hubert W.; Hazekamp, Mark G.; Grobbee, Diederick E.; Mulder, Barbara J. M.

    Background: Young patients with congenital heart disease reaching adulthood face mandatory transition to adult cardiology. Their new cardiologist needs to assess the chances of major future events such as surgery. Using a large national registry, we assessed if patient characteristics at the age of

  11. Congenital metabolic diseases: Diagnosis and treatment

    Energy Technology Data Exchange (ETDEWEB)

    Wapnir, R.A.

    1985-01-01

    This book contains eight parts, each consisting of several papers. The part titles are: The Heritage of Sir Archibald Garrod; New Approaches to the Diagnosis and Treatment of Genetic Disease; Achievements, New Trends, and Policies in the Detection of Inborn Errors of Metabolism; Disorders of Amino Acid Metabolism; Diseases of Energy Metabolism; Problems of Abnormal Storage Diseases; Inherited Diseases of Membrane Transport and Receptors; and Inborn Errors of Purine Metabolism and Urea Synthesis.

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

    Directory of Open Access Journals (Sweden)

    Matthew J. Moulton

    2016-03-01

    Full Text Available 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.

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

    Science.gov (United States)

    Moulton, Matthew J; Letsou, Anthea

    2016-03-01

    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.

  14. Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, associated with human congenital heart disease.

    Directory of Open Access Journals (Sweden)

    Stella Marie Reamon-Buettner

    Full Text Available Germline mutations in cardiac-specific transcription factor genes have been associated with congenital heart disease (CHD and the homeodomain transcription factor NKX2-5 is an important member of this group. Indeed, more than 40 heterozygous NKX2-5 germline mutations have been observed in individuals with CHD, and these are spread along the coding region, with many shown to impact protein function. In pursuit of understanding causes of CHD, we analyzed n = 49 cardiac biopsies from 28 patients and identified by direct sequencing two nonsynonymous NKX2-5 alterations affecting alanine 119, namely c.356C>A (p.A119E and c.355G>T, (p.A119S, in patients with AVSD and HLHS, respectively. In functional assays, a significant reduction in transcriptional activities could be determined for the NKX2-5 variants. Importantly, in one family the mother, besides p.A119E, carried a synonymous mutant allele in the homeodomain (c.543G>A, p.Q181, and a synonymous dbSNP (c.63A>G, p.E21 in the transactivation domain of the protein, that were transmitted to the CHD daughter. The presence of these variants in-cis with the p.A119E mutation led to a further reduction in transcriptional activities. Such difference in activity may be in part related to reduced protein expression for the double variant c.356C>A and c.543G>A. We propose changes in mRNA stability and folding, due to a silent mutation and a dbSNP in the NKX2-5 coding region to contribute to the functional defect. Although the clinical significance of the NKX2-5 haplotype identified in the CHD patients remains to be ascertained, we provide evidence of an interaction of a dbSNP, with synonymous and nonsynonymous mutations to negatively impact NKX2-5 transcriptional activity.

  15. Echocardiographic evaluation of right ventricular function in congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    Yiu-fai Cheung

    2014-01-01

    Objective This review aims to provide an overview of conventional and novel indices used in clinical and research arenas for evaluation of right ventricular (RV) function in congenital heart diseases with a dual-chambered circulation.Data sources Articles cited in this review were selected using PubMed search of publications in English with no date limits.The search terms included "echocardiography","right ventricle","RV function","cardiac function",and "congenital heart disease".Key references were also searched for additional publications.Study selection Articles related to description of echocardiographic techniques in the evaluation of subpulmonary or systemic RV function and their applications in congenital cardiac malformations were retrieved and reviewed.Results Three approaches have been used to evaluate subpulmonary and systemic RV function:(1) assessment of changes in RV size in the cardiac cycle,(2) determination of Doppler-derived velocities and systolic and diastolic time intervals,and (3) quantification of myocardial velocities and deformation.Conclusions Conventional and novel echocardiographic techniques enable the evaluation of subpulmonary and systemic RV function.Novel echocardiographic techniques have further allowed quantification of RV volumes and direct interrogation of myocardial deformation.These new techniques show promise in a more comprehensive evaluation beyond "eye-bailing" of RV function in the growing population of adolescent and adult congenital heart patients.

  16. Trochanteric osteotomy in total hip replacement for congenital hip disease.

    Science.gov (United States)

    Hartofilakidis, G; Babis, G C; Georgiades, G; Kourlaba, G

    2011-05-01

    We studied the effect of trochanteric osteotomy in 192 total hip replacements in 140 patients with congenital hip disease. There was bony union in 158 hips (82%), fibrous union in 29 (15%) and nonunion in five (3%). The rate of union had a statistically significant relationship with the position of reattachment of the trochanter, which depended greatly on the pre-operative diagnosis. The pre-operative Trendelenburg gait substantially improved in all three disease types (dysplasia, low and high dislocation) and all four categories of reattachment position. A persistent Trendelenburg gait post-operatively was noticed mostly in patients with defective union (fibrous or nonunion). Acetabular and femoral loosening had a statistically significant relationship with defective union and the position of reattachment of the trochanter. These results suggest that the complications of trochanteric osteotomy in total hip replacement for patients with congenital hip disease are less important than the benefits of this surgical approach.

  17. Towards defining heart failure in adults with congenital heart disease.

    Science.gov (United States)

    Bolger, Aidan P; Gatzoulis, Michael A

    2004-12-01

    Injury to the myocardium disrupts geometric integrity and results in changes to intracardiac pressure, wall stress and tension, and the pattern of blood flow through the heart. Significant disruption to pump function results in heart failure which is defined in terms of symptoms: breathlessness and fatigue, signs of salt and water retention, and neurohormonal activation. This syndrome most commonly occurs in the context of injury due to ischaemic heart disease and dilated cardiomyopathy but because patients with congenital heart disease (CHD) are born with sometimes gross distortions of cardiac anatomy they too are subject to the forces that drive heart failure. This paper explores the available data relating to the clinical and neurohormonal manifestations of heart failure in patients with congenital heart disease and describes how, by additionally exploring events at a cellular level, we may be able to arrive at a definition of heart failure relevant to this population.

  18. 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.

  19. 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.  

  20. Cardiac CT angiography in children with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Siripornpitak, Suvipaporn, E-mail: ssiripornpitak@yahoo.com [Division of Diagnostic Radiology, Department of Diagnostic and Therapeutic Radiology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Pornkul, Ratanaporn [Division of Diagnostic Radiology, Department of Diagnostic and Therapeutic Radiology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Khowsathit, Pongsak [Pediatric Cardiac Unit, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Layangool, Thanarat; Promphan, Worakan [Pediatric Cardiology Unit, Queen Sirikit National Institute of Child Health, Bangkok (Thailand); Pongpanich, Boonchob [Pediatric Cardiac Unit, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand)

    2013-07-15

    Cardiac imaging plays an important role in both congenital and acquired heart diseases. Cardiac computed tomography (angiography) cCT(A) is a non-invasive, increasingly popular, complementary modality to echocardiography in evaluation of congenital heart diseases (CHD) in children. Despite radiation exposure, cCT(A) is now commonly used for evaluation of the complex CHD, giving information of both intra-cardiac and extra-cardiac anatomy, coronary arteries, and vascular structures. This review article will focus on the fundamentals and essentials for performing cCT(A) in children, including radiation dose awareness, basic techniques, and strengths and weaknesses of cCT(A) compared with cardiac magnetic resonance imaging (cMRI), and applications. The limitations of this modality will also be discussed, including the CHD for which cMRI may be substituted.

  1. 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.

  2. Grown Up Congenital Heart Diseases (GUCH: A Review

    Directory of Open Access Journals (Sweden)

    Ajmer Singh

    2013-10-01

    Full Text Available The survival of children with congenital heart disease into adulthood has increased. These patients may require primary cardiac surgical repair, repair after prior palliation, revision of repair for residual lesion, or non-cardiac surgery. Preoperative cardiac evaluation consists of review of laboratory data, echocardiography, cardiac MRI, CT, cardiopulmonary exercise testing, arrhythmia monitoring, and cardiac catheterization. Perioperative complications are more frequently seen in high-risk patients i.e. those with pulmonary hypertension, cyanosis, heart failure, and poor general health. Guidelines for the management of patients with grown up congenital heart (GUCH diseases suggest that such patients are best treated in dedicated tertiary care centres by a multidisciplinary team, knowledgeable about the anatomy and pathophysiology of the lesion.

  3. Nutritional Approach of Pediatric Patients Diagnosed with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Togănel Rodica

    2013-04-01

    Full Text Available Congenital heart defects are among the most frequent anomalies present at birth, representing a heterogeneous group of malformations, both in terms of pathogenesis and clinical significance of the lesion. Failure to grow is well documented in infants with complex congenital heart defects; the presence of associated chromosomal abnormalities, cyanosis, and cardiac failure adds to the complexity and challenge. Malnutrition etiology can be grouped into the following three categories: inadequate intake, inefficient absorption and utilization, and/or increased energy needs. The consequences of malnutrition are both short and long term, timely nutritional intervention being necessary in order to maintain an adequate nutritional state. Because there are several types of congenital heart defects and multiple mechanisms by which they produce failure to thrive, no single strategy will be adequate to treat all cases. Medical complications such as chylotorax, necrotizing enterocolitis, laryngeal and neurological dysfunction play a major role in the requisite nutrition therapy in infants with congenital heart defect; limited access to human milk and parenteral concerns, as well as stress about feeding are also factors that can contribute to poor outcomes concerning nutrition and growth. Protocols are being considered and designed, and a systematic approach is always needed. The quality of life for patient and family, as well as getting the child back on track for age-appropriate development are always at the fore-front of each care plan.

  4. Mortality from congenital abnormality in Malaysia 1991-1997: the effect of economic development on death due to congenital heart disease.

    Science.gov (United States)

    Ho, J J

    2001-06-01

    An analysis was done of available data from the Department of Statistics Malaysia, on the type of congenital abnormality contributing to death, to determine whether progress in health care over recent years was associated with any decline in mortality from congenital abnormality. A significant decline in death due to congenital abnormality was observed between 1991 and 1996. This was attributable to a decline in deaths due to congenital heart disease occurring because of improvements in cardiac surgical services for infants. In 1997 death due to congenital heart disease increased significantly. This could be attributed to improvements in the diagnosis of congenital heart disease in the neonate.

  5. Practical stepwise approach to rhythm disturbances in congenital heart diseases

    OpenAIRE

    Huh, June

    2010-01-01

    Patients with congenital heart diseases (CHD) are confronted with early- and late-onset complications, such as conduction disorders, arrhythmias, myocardial dysfunction, altered coronary flow, and ischemia, throughout their lifetime despite successful hemodynamic and/or anatomical correction. Rhythm disturbance is a well-known and increasingly frequent cause of morbidity and mortality in patients with CHD. Predisposing factors to rhythm disturbances include underlying cardiac defects, hemodyn...

  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. 10.7.Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

    930270 Clinical analysis of rupture of aorticsinus aneurysm in 30 cases.ZHANG Yuwei (张玉威),et al.Instit Cardiovasc Dis,Dept Med,Shenyang Milit General Hosp,PLA.Chin Cir J1993;8(1):30—31.Rupture of aortic sinus aneurysm is a rarecongenital heart disease.It is sometimes misdi-agnosed and treated because of no typical symp-toms and signs.30 cases with rupture of a-neurysm of aortic sinus were studied.Clinicaldata suggested that the disease could be firstlynoticed when the healthy male aged 20~40years developed suddenly chest pain or extreme-ly uncomfortable feeling with gradually increas-ing heart dysfunction low—frequency harsh andsuperficial continuous precordial murmurs.Chest X-ray exhibited enlargement of heartand asymmetry of pulmonary plethora.ECG

  8. "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.

  9. 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.

  10. Leber congenital amaurosis: genes, proteins and disease mechanisms.

    Science.gov (United States)

    den Hollander, Anneke I; Roepman, Ronald; Koenekoop, Robert K; Cremers, Frans P M

    2008-07-01

    Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping and candidate gene analysis facilitated the identification of 14 genes mutated in patients with LCA and juvenile retinal degeneration, which together explain approximately 70% of the cases. Several of these genes have also been implicated in other non-syndromic or syndromic retinal diseases, such as retinitis pigmentosa and Joubert syndrome, respectively. CEP290 (15%), GUCY2D (12%), and CRB1 (10%) are the most frequently mutated LCA genes; one intronic CEP290 mutation (p.Cys998X) is found in approximately 20% of all LCA patients from north-western Europe, although this frequency is lower in other populations. Despite the large degree of genetic and allelic heterogeneity, it is possible to identify the causative mutations in approximately 55% of LCA patients by employing a microarray-based, allele-specific primer extension analysis of all known DNA variants. The LCA genes encode proteins with a wide variety of retinal functions, such as photoreceptor morphogenesis (CRB1, CRX), phototransduction (AIPL1, GUCY2D), vitamin A cycling (LRAT, RDH12, RPE65), guanine synthesis (IMPDH1), and outer segment phagocytosis (MERTK). Recently, several defects were identified that are likely to affect intra-photoreceptor ciliary transport processes (CEP290, LCA5, RPGRIP1, TULP1). As the eye represents an accessible and immune-privileged organ, it appears to be uniquely suitable for human gene replacement therapy. Rodent (Crb1, Lrat, Mertk, Rpe65, Rpgrip1), avian (Gucy2D) and canine (Rpe65) models for LCA and profound visual impairment have been successfully corrected employing adeno-associated virus or lentivirus-based gene therapy. Moreover, phase 1 clinical trials have been carried out in humans with RPE65 deficiencies. Apart from ethical considerations inherently linked to treating children, major

  11. Implantation of total artificial heart in congenital heart disease.

    Science.gov (United States)

    Adachi, Iki; Morales, David S L

    2014-07-18

    In patients with end-stage heart failure (HF), a total artificial heart (TAH) may be implanted as a bridge to cardiac transplant. However, in congenital heart disease (CHD), the malformed heart presents a challenge to TAH implantation. In the case presented here, a 17 year-old patient with congenital transposition of the great arteries (CCTGA) experienced progressively worsening HF due to his congenital condition. He was hospitalized multiple times and received an implantable cardioverter defibrillator (ICD). However, his condition soon deteriorated to end-stage HF with multisystem organ failure. Due to the patient's grave clinical condition and the presence of complex cardiac lesions, the decision was made to proceed with a TAH. The abnormal arrangement of the patient's ventricles and great arteries required modifications to the TAH during implantation. With the TAH in place, the patient was able to return home and regain strength and physical well-being while awaiting a donor heart. He was successfully bridged to heart transplantation 5 months after receiving the device. This report highlights the TAH is feasible even in patients with structurally abnormal hearts, with technical modification.

  12. Urine β 2-Microglobolin in the Patients with Congenital Heart Disease

    OpenAIRE

    Noor Mohammad Noori; Simin Sadeghi; Iraj Shahramian; Kambiz Keshavarz

    2013-01-01

    Background: This study aimed to evaluate the renal tubular function in the patients with congenital heart disease using β2-microglobulin. Methods: In this case-control study, based on oxymetry, the patients with congenital heart disease were divided into two groups of cyanotic (n=20) and acyanotic (n=20). Congenital heart disease was diagnosed by echocardiography. Healthy individuals within the same age and sex groups were used as controls. Na+, β2-micro globulin, creatinine (Cr), and β2-...

  13. Haemodynamic findings on cardiac CT in children with congenital heart disease

    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, Republic of)

    2011-02-15

    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.)

  14. Pulse oximetry for screening critical congenital heart disease in newborns

    Institute of Scientific and Technical Information of China (English)

    CHEN Cui-ying; WU Shu-yan; YOU Ke-li; CHEN Guan-di; LI Zhi-gang

    2016-01-01

    Background Pulse oximetry screening (POS) has been proposed as an effective,noninvasive,inexpensive tool allowing earlier diagnosis of critical congenital heart disease (CCHD).However,most neonates are discharged from the hospital without this evaluation in China.This study aimed at assessing the feasibility of POS for newborns in detecting CCHD in the department of obstetrics and neonatal intensive care unit (NICU).Methods POS was performed in 355 neonates born in the department of obstetrics or admitted to the NICU between January 2015 and June 2015.These neonates were divided into normal group,mild congenital heart disease group (MCHD) and CCHD group,according to the result of echocardiography or computerized tomography (CT).The gestational age,birth weight and arterial oxygen saturation (SpO2) were compared among the three groups.The SpO2 value and diagnosis time of the CCHD cases were classified and analyzed.Results The premature birth and low birth weight were the high risk factors of mild congenital heart disease.There was no difference (P > 0.05) in SpO2 between the MCHD group and the normal group.Significant difference in the SpO2 appeared between the CCHD group and the normal group (P < 0.05).Combination of POS and clinical examination can reduce the missing diagnosis rate in screening for CCHD.Conclusions POS incurs very low cost and risk of harm and is not required for special gaining,therefore,an effective way to identify CCHD in neonates.

  15. Perinatal and Delivery Management of Infants with Congenital Heart Disease.

    Science.gov (United States)

    Sanapo, Laura; Moon-Grady, Anita J; Donofrio, Mary T

    2016-03-01

    Advances in fetal echocardiography have improved prenatal diagnosis of congenital heart disease (CHD) and allowed better delivery and perinatal management. Some newborns with CHD require urgent intervention after delivery. In these cases, delivery close to a pediatric cardiac center may be considered, and the presence of a specialized cardiac team in the delivery room or urgent transport of the infant should be planned in advance. Delivery planning, monitoring in labor, rapid intervention at birth if needed, and avoidance of iatrogenic preterm delivery have the potential to improve outcomes for infants with prenatally diagnosed CHD.

  16. 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.

  17. 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.

  18. 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.

  19. 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.

  20. 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.

  1. 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.

  2. [Assessment of exercise capacity in congenital heart disease].

    Science.gov (United States)

    Bouzo-López, Raquel; González-Represas, Alicia

    2016-01-01

    For many years, the treatment of congenital heart diseases has been a field in which, based on the seriousness of these conditions, treatment options were viewed with the greatest deference. This has conditioned, in many cases, the interventions to be undertaken in each. In this sense, exercise was thought to have a negative impact and thus the practise of almost any physical activity was limited. Although there has recently been a change in the paradigm with respect to exercise, this idea continues to hold sway. For many cardiopathies, the information obtained through a stress test is essential in order to implement and supervise an exercise program. The aim of this study is to analyze the parameters within the stress test which allow for an adequate stratification of the risk to subjects with congenital heart diseases who undertake exercise, as well as their values in accordance with the type of pathology, the gravity of such, and the age of the patients. Furthermore, these parameters will be analyzed for both their survival markers and the protocols that can best be adjusted for patients with these characteristic. Copyright © 2015 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

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

    Science.gov (United States)

    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 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. PMID:28032030

  4. Washing our hands of the congenital cytomegalovirus disease epidemic

    Directory of Open Access Journals (Sweden)

    Cannon Michael J

    2005-06-01

    Full Text Available Abstract Background Each year in the United States, an estimated 40,000 children are born with congenital cytomegalovirus (CMV infection, causing an estimated 400 deaths and leaving approximately 8000 children with permanent disabilities such as hearing or vision loss, or mental retardation. More children are affected by serious CMV-related disabilities than by several better-known childhood maladies, including Down syndrome, fetal alcohol syndrome, and spina bifida. Discussion Congenital CMV is a prime target for prevention not only because of its substantial disease burden but also because the biology and epidemiology of CMV suggest that there are ways to reduce viral transmission. Because exposure to the saliva or urine of young children is a major cause of CMV infection among pregnant women, it is likely that good personal hygiene, especially hand-washing, can reduce the risk of CMV acquisition. Experts agree that such measures are likely to be efficacious (i.e., they will work if consistently followed and the American College of Obstetricians and Gynecologists recommends that physicians counsel pregnant women about preventing CMV acquisition through careful attention to hygiene. However, because of concerns about effectiveness (i.e., Will women consistently follow hygienic practices as the result of interventions?, the medical and public health communities appear reluctant to embrace primary CMV prevention via improved hygienic practices, and educational interventions are rare. Current data on the effectiveness of such measures in preventing CMV infection are promising, but limited. There is strong evidence, however, that educational interventions can prevent other infectious diseases with similar transmission modes, suggesting that effective interventions can also be found for CMV. Until a CMV vaccine becomes available, effective educational interventions are needed to inform women about congenital CMV prevention. Summary Perhaps no single

  5. 77. Ultrasonography assessment of congenital renal anomalies in children with congenital heart diseases

    Directory of Open Access Journals (Sweden)

    M.H. Hamadah

    2016-07-01

    Full Text Available Ultrasound (US assessment of renal anomalies in children requiring pediatric cardiac surgery is not a standard practice. This study aimed to study the role of bedside US performed by intensivists to detect occult renal anomalies associated with congenital heart disease (CHD. Prospective descriptive study for 100 consecutive children with CHD admitted to Pediatric Cardiac Intensive Care Unit (PCICU from Januarry 1st, 2015 through June, July 2015. Ultrasound of kidneys was performed initially by trained pediatric cardiac intensivists to ascertain the presence of both kidneys in renal fossae and to check for gross kidney anomalies. After screening of 100 consecutive children with CHD with renal US, we identified in 94 cases (94% normal right and left kidney in the standard sonographer shape in the renal fossae. In 6 cases further investigation revealed ectopic kidney in 3 patients (50%, solitary functional kidney in 2 patients (33.4% and bilateral grade IV hydronephrosis in one patient (16.6%. Urinary tract infection developed peri-operatively in 66% of the cases with kidney anomalies. No significant renal impairment was noted in these patients post-surgery. We observed no specific association between the type of renal anomaly and specific CHD. Renal US in children with CHD demonstrated prevalence of associated congenital renal anomalies in 6% of children undergoing cardiac surgery. The presence of occult kidney anomalies did not impact the kidney function or the short term outcome after cardiac repair except for an increased risk of urosepsis. Performing renal US should be a standard practice in all children with CHD.

  6. Containing costs in the treatment of congenital heart disease.

    Science.gov (United States)

    Waldman, J D; George, L; Lamberti, J J; Lodge, F A; Pappelbaum, S J; Turner, S W; Mathewson, J W; Kirkpatrick, S E

    1984-07-01

    In the Congenital Heart Program at San Diego Children's Hospital, alterations in medical practice have reduced costs without impairing quality or access. Pediatric cardiac catheterization was done in 483 consecutive elective patients without overnight hospital stay. Hospital readmission was required in one patient for psoas tendinitis. Avoiding overnight hospital stay minimized attendant risks of hospital care, lessened psychosocial trauma and reduced the average hospital bill by $493 (29%). Hospital stay was also reduced for elective surgical correction of congenital heart disease on a case-by-case basis. Review of 151 consecutive cases (1978 through 1982) showed a decrease in both preoperative days in hospital and postoperative days in an intensive care unit. The duration of the postoperative stay was shortened from 6.8 days in 1978-1979 to 4.4 days in 1982 (P <.05). No increase in morbidity and no mortality resulted from the shortened perioperative hospital stay. Financial savings from this process averaged $991 per procedure.Diagnostic tests were reassessed and many precatheterization laboratory tests were eliminated. Without change in new patients seen or surgical volume, the use of cardiac catheterization decreased from 241 procedures in 1981 to 161 in 1982 and the number of operations without catheterization increased (11 to 22, 1981 to 1982). No increase in surgical morbidity or mortality was found comparing those diagnosed only by echocardiography with those who had preoperative cardiac catheterization. The decrease of 80 catheterizations in one year resulted in a savings of $188,800.True cost containment (reducing cost without reducing quality) can be accomplished in congenital heart programs. Similar cost containments in other disciplines may also be achieved.

  7. 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.…

  8. 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

    Aims 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. Methods and re

  9. Lactacidosis in the neonate is minimized by prenatal detection of congenital heart disease

    NARCIS (Netherlands)

    Verheijen, PM; Lisowski, LA; Stoutenbeek, P; Hitchcock, JF; Bennink, GBWE; Meijboom, EJ

    2002-01-01

    Objectives To investigate the impact of prenatal detection of congenital heart disease on preventing severe preoperative lactacidosis. Design Patients operated upon for congenital heart disease during the first 31 days of life (n=209) were studied retrospectively, 21 were diagnosed prenatally and 18

  10. 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.

  11. Haploinsufficiency of TAB2 causes congenital heart defects in humans

    DEFF Research Database (Denmark)

    Thienpont, Bernard; Zhang, Litu; Postma, Alex V;

    2010-01-01

    Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. We identified a locus for CHDs on 6q24-q25. Genotype-phenotype correlations in 12 patients carrying a chromosomal deletion...... in cardiac development was further supported by its conserved expression in the developing human and zebrafish heart. Moreover, a critical, dosage-sensitive role during development was demonstrated by the cardiac defects observed upon titrated knockdown of tab2 expression in zebrafish embryos...

  12. Genetic counseling in the adult with congenital heart disease: what is the role?

    Science.gov (United States)

    Burchill, Luke; Greenway, Steven; Silversides, Candice K; Mital, Seema

    2011-08-01

    New discoveries using high-resolution methods for detecting genetic aberrations indicate that the genetic contribution to congenital heart disease has been significantly underestimated in the past. DNA diagnostics have become more accessible and genetic test results are increasingly being used to guide clinical management. Adult congenital heart disease specialists seeking to counsel adults with congenital heart disease about the genetic aspects of their condition face the challenge of keeping abreast of new genetic techniques and discoveries. The emphasis of this review is on the genetic basis of structural cardiovascular defects. A framework for identifying adult congenital heart disease patients most likely to benefit from genetic testing is suggested, along with a summary of current techniques for genetic testing. The clinical and ethical challenges associated with genetic counseling are highlighted. Finally, emerging technologies and future directions in genetics and adult congenital heart disease are discussed.

  13. 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.

  14. 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

  15. Studies of Genes Involved in Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Tushar K. Ghosh

    2014-05-01

    Full Text Available Congenital heart disease (CHD affects the intricate structure and function of the heart and is one of the leading causes of death in newborns. The genetic basis of CHD is beginning to emerge. Our laboratory has been engaged in identifying mutations in genes linked to CHD both in families and in sporadic cases. Over the last two decades, we have employed linkage analysis, targeted gene sequencing and genome wide association studies to identify genes involved in CHDs. Cardiac specific genes that encode transcription factors and sarcomeric proteins have been identified and linked to CHD. Functional analysis of the relevant mutant proteins has established the molecular mechanisms of CHDs in our studies.

  16. Pregnancy after fontan repair of complex congenital heart disease.

    Science.gov (United States)

    Hoare, J V; Radford, D

    2001-11-01

    We describe four successful pregnancies in three women who had previously had a Fontan repair for congenital heart disease. Each pregnancy resulted in a live birth and there was no maternal mortality The infants were premature, being delivered at 26, 30 and 35 weeks, and weighing 1,020, 1,333 and 1,930 g respectively The fourth infant was born at 32 weeks and no birthweight is available. Maternal complications occurred and were those anticipated after a Fontan repair. Two mothers required treatment for supraventricular arrhythmias (atrial flutter and fibrillation). Ventricular failure was present in two mothers and required ongoing drug treatment. Raised systemic venous pressures caused peripheral oedema in two mothers and hepatomegaly and ascites in one mother. The physiology, potential complications, anaesthetic concerns and drug treatment in pregnancy after Fontan repair are discussed.

  17. Congenital heart disease in India: a status report.

    Science.gov (United States)

    Saxena, Anita

    2005-07-01

    Pediatric cardiac care in India is still in its infancy. We have no data on congenital heart disease (CHD) prevalence at birth or on proportional mortality from CHD. The resources are not only limited but also are at times improperly utilized. There are very few specialized pediatric cardiology training programs, those that are, are concentrated in certain regions of India and are often imparted through combined adult and pediatric programs. The existing number of trained personnel for pediatric cardiology and pediatric cardiac surgery is inadequate. Above all there is no national policy for pediatric heart care. Increasing awareness of the problem amongst the pediatricians through CMEs, seminars, symposia is likely to be most helpful in early diagnosis and timely referral of cases. Training programs exclusively dedicated to pediatric cardiology and pediatric cardiac surgery need to be established in centres with good standards of pediatric cardiac care.

  18. The team approach to pregnancy and congenital heart disease.

    Science.gov (United States)

    Kafka, Henryk; Johnson, Mark R; Gatzoulis, Michael A

    2006-11-01

    The successful pediatric management of congenital heart disease has resulted in increasing numbers of these patients in the reproductive age group and increasing clinical challenges for their physicians. These challenges can be met successfully, with improved results for mother and child, through a concerted comprehensive team approach that relies on a thorough understanding of the patient's underlying cardiac pathology and its anticipated interaction with the pregnancy, and ongoing close evaluation and communication with a team of trained and experienced specialist, including (but not limited to) cardiologist, obstetricians, anesthetists, pediatricians, clinical nurse specialists, and clinical geneticists. Such teams are not always available locally and it will be necessary to refer medium- and high-risk patients to a specialized tertiary care center.

  19. 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.

  20. 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.

  1. Combination of congenital cleft lip and palate with congenital diaphragmatic hernia: a severe disease course

    Institute of Scientific and Technical Information of China (English)

    LI Yang; XIONG Wan-lin; SHI Bing

    2006-01-01

    @@ Congenital cleft lip and palate (CLP) is the most common birth defect now in China. The incidence is 1.62‰ according to the data (1988-1992) provided by the National Center for Birth Defects Monitoring.1 It is also one of the congenital anomalies that have excellent prognosis. But severe complications may occur in the cases accompanied some other deformities. Here we report a case of death caused by left-sided posterolateral congenital diaphragmatic hernia (CDH), type Bochdalek, after the cleft operation.

  2. [Computerized tomography in the diagnosis of congenital heart disease].

    Science.gov (United States)

    Makarenko, V N; Iurpol'skaia, L A

    2009-01-01

    The aim of the work was to evaluate the possibility to use CT techniques (SCT and MRT) for the diagnosis of congenital heart disease. A total of 426 patient aged 0-54 years were examined (171 by MRT and 255 by SCT. SCT of the heart with bolus injection of a contrast medium was performed on an Evolution C-150 superfast tomograph in the step-scanning regime and prospective synchronization with ECG (slice thickness 1.5-3 mm). Fasting SCT was used to examine children in the first year of life during quiet (unforced) breathing. Contrast material (Omnipack-300, 350; Visipack-270, 320) was administered at a dose of 1.5-2.0 ml/ kg b.w. at 0.2-0.6 ml/s. MRT was performed using a conventional MR tomograph with a 1 T field and pulsed spin-echo sequences synchronized with ECG for obtaining the anatomic picture and gradient echo-signals (cine-MRT) for the assessment of functional parameters (slice thickness 4-7 mm). Babies were examined under medicamentous sedation. All images were treated and analysed using an Advantage Windows 2.0 workstation and a program package for heart image analysis. A rational procedure of CT and image analysis was developed in the course of the study. It provided data on the formation of all segments and intercommunications of the heart, mutual localization of its cavities and major vessels, permitted to perform morphometry of selected cardiac structures and detect anatomic defects. The informative and diagnostic value of methods for comprehensive evaluation of the heart and mediastinum in patients with congenital heart disease was assessed. Methods of choice for the diagnosis of abnormalities and follow-up of the patients in different periods after surgery were identified.

  3. Gene Therapy and Stem Cells in the Treatment of Congenital Diseases

    Directory of Open Access Journals (Sweden)

    Paula Rubya Souza C and acirc;mara

    2015-06-01

    Full Text Available Several congenital diseases are particularly attractive candidates for intervention using gene therapy since the underlying molecular bases for most of the monogenic disorders are well-understood. Transplantation of ex vivo genetically modified stem cells has also shown promise. Although all of these systems are meritorious and worthy of continued investigation, this mini-review article focused on the platforms that have received the most attention and that are maturing in the clinical setting; in particular, the potential of in vivo gene therapy and human-induced pluripotent stem cells. Studies of apparently disparate diseases that are presumably linked through shared metabolic pathways are likely to provide greater insights into the biology of the diseases. This and other opportunities for exchange will hopefully foster acceleration in the development of new and innovative therapies for these devastating diseases. [J Interdiscipl Histopathol 2015; 3(2.000: 58-62

  4. Transcriptional atlas of cardiogenesis maps congenital heart disease interactome.

    Science.gov (United States)

    Li, Xing; Martinez-Fernandez, Almudena; Hartjes, Katherine A; Kocher, Jean-Pierre A; Olson, Timothy M; Terzic, Andre; Nelson, Timothy J

    2014-07-01

    Mammalian heart development is built on highly conserved molecular mechanisms with polygenetic perturbations resulting in a spectrum of congenital heart diseases (CHD). However, knowledge of cardiogenic ontogeny that regulates proper cardiogenesis remains largely based on candidate-gene approaches. Mapping the dynamic transcriptional landscape of cardiogenesis from a genomic perspective is essential to integrate the knowledge of heart development into translational applications that accelerate disease discovery efforts toward mechanistic-based treatment strategies. Herein, we designed a time-course transcriptome analysis to investigate the genome-wide dynamic expression landscape of innate murine cardiogenesis ranging from embryonic stem cells to adult cardiac structures. This comprehensive analysis generated temporal and spatial expression profiles, revealed stage-specific gene functions, and mapped the dynamic transcriptome of cardiogenesis to curated pathways. Reconciling known genetic underpinnings of CHD, we deconstructed a disease-centric dynamic interactome encoded within this cardiogenic atlas to identify stage-specific developmental disturbances clustered on regulation of epithelial-to-mesenchymal transition (EMT), BMP signaling, NF-AT signaling, TGFb-dependent EMT, and Notch signaling. Collectively, this cardiogenic transcriptional landscape defines the time-dependent expression of cardiac ontogeny and prioritizes regulatory networks at the interface between health and disease. Copyright © 2014 the American Physiological Society.

  5. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: Complex congenital cardiac lesions

    OpenAIRE

    Silversides, Candice K.; Oechslin, Erwin; Schwerzmann, Markus; Muhll, Isabelle Vonder; Khairy, Paul; Horlick, Eric; Landzberg, Mike; Meijboom, Folkert; Warnes, Carole; 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 their cardiac disease can be associated with pulmonary hypertension, thromboemboli, complex arrhythmias and sudden death. Medical aspects that need to be considered relate to the long-term and mult...

  6. Congenital labial mucocele: rare presentation of a common disease.

    Science.gov (United States)

    Silva, Igor Henrique; Cardoso, Samantha; Carvalho, Camila Nunes; Carvalho, Alessandra Albuquerque Tavares; Leão, Jair Carneiro; Gueiros, Luiz Alcino

    2016-01-01

    Oral mucoceles are common lesions characterized by accumulation of mucus following rupture of a minor salivary gland duct. However, congenital mucoceles are a rare and distinctive oral condition observed in newborns. This case report details the features of a congenital labial nodule diagnosed as congenital mucocele. These lesions are rare in the oral cavity and should be diagnosed in the delivery room, but many cases are referred for further evaluation. Management is simple, and recurrence is not expected.

  7. 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

    2000-01-01

    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

  8. 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 congenit

  9. 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.

  10. 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.

  11. Myocardial Architecture, Mechanics, and Fibrosis in Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Sarah Ghonim

    2017-05-01

    Full Text Available Congenital heart disease (CHD is the most common category of birth defect, affecting 1% of the population and requiring cardiovascular surgery in the first months of life in many patients. Due to advances in congenital cardiovascular surgery and patient management, most children with CHD now survive into adulthood. However, residual and postoperative defects are common resulting in abnormal hemodynamics, which may interact further with scar formation related to surgical procedures. Cardiovascular magnetic resonance (CMR has become an important diagnostic imaging modality in the long-term management of CHD patients. It is the gold standard technique to assess ventricular volumes and systolic function. Besides this, advanced CMR techniques allow the acquisition of more detailed information about myocardial architecture, ventricular mechanics, and fibrosis. The left ventricle (LV and right ventricle have unique myocardial architecture that underpins their mechanics; however, this becomes disorganized under conditions of volume and pressure overload. CMR diffusion tensor imaging is able to interrogate non-invasively the principal alignments of microstructures in the left ventricular wall. Myocardial tissue tagging (displacement encoding using stimulated echoes and feature tracking are CMR techniques that can be used to examine the deformation and strain of the myocardium in CHD, whereas 3D feature tracking can assess the twisting motion of the LV chamber. Late gadolinium enhancement imaging and more recently T1 mapping can help in detecting fibrotic myocardial changes and evolve our understanding of the pathophysiology of CHD patients. This review not only gives an overview about available or emerging CMR techniques for assessing myocardial mechanics and fibrosis but it also describes their clinical value and how they can be used to detect abnormalities in myocardial architecture and mechanics in CHD patients.

  12. Berlin Heart EXCOR use in patients with congenital heart disease.

    Science.gov (United States)

    Morales, David L S; Zafar, Farhan; Almond, Christopher S; Canter, Charles; Fynn-Thompson, Francis; Conway, Jennifer; Adachi, Iki; Lorts, Angela

    2017-02-08

    Management of mechanical circulatory support in children with congenital heart disease (CHD) is challenging due to physiologic variations and anatomic limitations to device placement. In this study we examine the use of Berlin Heart EXCOR in CHD patients. CHD patients were identified from the EXCOR Pediatric Study data set (2007 to 2010). Mortality and serious adverse events were compared between CHD and non-CHD cohorts, and predictors of poor outcomes in the CHD cohort were identified. CHD was present in 29% (n = 59, 18 with 1-ventricle physiology) of all EXCOR patients (N = 204). Successful bridge (transplant or wean) was less likely in CHD patients compared with non-CHD patients (48% vs 80%; p 1 year) were successfully bridged. Pre-implant congenital heart surgery (CHS) and extracorporeal membrane oxygenation (ECMO) on the same admission occurred in 60% of children ≤1 year of age (83% of neonates, 50% of infants), with 8% survival. Regardless of age, patients who did not have CHS and ECMO had 61% survival. Smaller pump, pre-implant bilirubin >1.2 mg/dl and renal dysfunction were independently associated with mortality. End-organ function at implant reliably predicts adverse outcomes and should be considered when making implant decisions. EXCOR use in neonates and infants with CHD should be approached cautiously. If patients have undergone pre-implant CHS and ECMO, EXCOR support may not provide any survival benefit. EXCOR support in non-infants with CHD is challenging but can be consistently successful with appropriate patient selection. Copyright © 2017 International Society for Heart and Lung Transplantation. Published by Elsevier Inc. All rights reserved.

  13. Fetal extracardiac anomalies associated with congenital cardiac diseases

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    Yi, Bum Ha; Cho, Jung Yeon; Lee, Young Ho; Song, Mi Jin [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2004-06-15

    To evaluate the incidence of associated extracardiac anomalies in fetuses with congenital heart defects on fetal echocardiography, and to estimate the incidence of chromosomal abnormalities according to the extracardiac anomalies. From Jan. 1999 to Dec. 2001, 101 fetuses with prenatally diagnosed extracardiac anomalies and congenital cardiac diseases were selected for study. The mean gestational age at the time of the ultrasound exam was about 25 weeks. Associated extracardiac anomalies were classified into CNS, face and neck, thorax, abdomen, genitourinary system, musculoskeletal, other and multi-systemic anomalies groups. Chromosomal studies including chorionic villi sampling, amniocentesis, cordocentesis, and postnatal exam were correlated. Musculoskeletal anomalies were the most commonly associated extracardiac anomalies (n=28, 27.7%). Abdominal anomaly (n=26, 25.7%), central nervous system anomaly (n=25, 24.8%), genitourinary anomaly(n=12, 11.9%), thoracic anomaly (n=4, 4%), face and neck anomaly (n=3, 3%) were found. Twenty eight fetuses showed other anomalies (n=28, 27.7%). Multi-systemic anomalies were also common (n=20, 19.8%). Fetal anomalies involving two systems were noted in 15 fetuses, and anomalies of more than three systems were not uncommon (5 fetuses). Chromosomal study of 38 fetuses revealed 19 fetuses with abnormal karyotypes (50%). For 19 fetuses with abnormal karyotypes, central nervous system anomalies and musculoskeletal anomalies were the most frequently associated with extracardiac abnormalities (n=9). Multi-systemic anomalies were associated in 9 of the 19 fetuses. In fetuses with cardiac defects, the musculoskeletal, abdomen and CNS anomalies were commonly associated with extracardiac anomalies. Various extracardiac anomalies such as, head and neck anomalies, CNS anomalies, musculoskeletal anomalies, and multi-organ anomalies were highly correlated with chromosomal abnormalities, and so this relationship requires chromosomal study.

  14. Urine β 2-Microglobolin in the Patients with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Noor Mohammad Noori

    2013-06-01

    Full Text Available Background: This study aimed to evaluate the renal tubular function in the patients with congenital heart disease using β2-microglobulin. Methods: In this case-control study, based on oxymetry, the patients with congenital heart disease were divided into two groups of cyanotic (n=20 and acyanotic (n=20. Congenital heart disease was diagnosed by echocardiography. Healthy individuals within the same age and sex groups were used as controls. Na+, β2-micro globulin, creatinine (Cr, and β2-microglobulin/Cr ratio were measured in random urine samples and the results were compared to the same parameters in the control group using Tukey, One-Way ANOVA, and X2 tests. Results: Based on the study results, urine sodium in the patients with cyanotic heart disease was significantly different from that of the controls (P=0.023. The results also revealed a significant difference between the two groups with congenital heart disease regarding urine β2-microglobulin (P=0.045. In addition, the patients with cyanotic heart disease were significantly different from those with acyanotic heart disease and the controls regarding urine β2-micro globulin/Cr ratio (P=0.012 and P=0.026, respectively. Conclusions: The results of this study demonstrated that renal tubular dysfunction began in the patients with congenital heart disease, especially in those with cyanotic congenital heart disease. Besides, early diagnosis before cardiac surgery leads to better control of renal tubular disease.

  15. Pheochromocytoma and paraganglioma in cyanotic congenital heart disease.

    Science.gov (United States)

    Opotowsky, Alexander R; Moko, Lilamarie E; Ginns, Jonathan; Rosenbaum, Marlon; Greutmann, Matthias; Aboulhosn, Jamil; Hageman, Abbie; Kim, Yuli; Deng, Lisa X; Grewal, Jasmine; Zaidi, Ali N; Almansoori, Ghadeera; Oechslin, Erwin; Earing, Michael; Landzberg, Michael J; Singh, Michael N; Wu, Fred; Vaidya, Anand

    2015-04-01

    Aberrant cellular oxygen sensing is a leading theory for development of pheochromocytoma (PHEO) and paraganglioma (PGL). The objective of the study was to test the hypothesis that chronic hypoxia in patients with cyanotic congenital heart disease (CCHD) increases the risk for PHEO-PGL. We investigated the association between CCHD and PHEO-PGL with two complementary studies: study 1) an international consortium was established to identify congenital heart disease (CHD) patients with a PHEO-PGL diagnosis confirmed by pathology or biochemistry and imaging; study 2) the 2000-2009 Nationwide Inpatient Survey, a nationally representative discharge database, was used to determine population-based cross-sectional PHEO-PGL frequency in hospitalized CCHD patients compared with noncyanotic CHD and those without CHD using multivariable logistic regression adjusted for age, sex, and genetic PHEO-PGL syndromes. In study 1, we identified 20 PHEO-PGL cases, of which 18 had CCHD. Most presented with cardiovascular or psychiatric symptoms. Median cyanosis duration for the CCHD PHEO-PGL cases was 20 years (range 1-57 y). Cases were young at diagnosis (median 31.5 y, range 15-57 y) and 7 of 18 had multiple tumors (two bilateral PHEO; six multifocal or recurrent PGL), whereas 11 had single tumors (seven PHEO; four PGL). PGLs were abdominal (13 of 17) or head/neck (4 of 17). Cases displayed a noradrenergic biochemical phenotype similar to reported hypoxia-related PHEO-PGL genetic syndromes but without clinical signs of such syndromes. In study 2, hospitalized CCHD patients had an increased likelihood of PHEO-PGL (adjusted odds ratio 6.0, 95% confidence interval 2.6-13.7, P < .0001) compared with those without CHD; patients with noncyanotic CHD had no increased risk (odds ratio 0.9, P = .48). There is a strong link between CCHD and PHEO-PGL. Whether these rare diseases coassociate due to hypoxic stress, common genetic or developmental factors, or some combination requires further

  16. 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.

  17. Cornelia de Lange syndrome: Congenital heart disease in 149 patients.

    Science.gov (United States)

    Ayerza Casas, Ariadna; Puisac Uriol, Beatriz; Teresa Rodrigo, María Esperanza; Hernández Marcos, María; Ramos Fuentes, Feliciano J; Pie Juste, Juan

    2017-06-16

    Cornelia de Lange syndrome (CdLS) is produced by mutations in genes that encode regulatory or structural proteins of the cohesin complex. Congenital heart disease (CHD) is not a major criterion of the disease, but it affects many individuals. The objective of this study was to study the incidence and type of CHD in patients with CdLS. Cardiological findings were evaluated in 149 patients with CdLS and their possible relationship with clinical and genetic variables. A percentage of 34.9 had CHD (septal defects 50%, pulmonary stenosis 27%, aortic coarctation 9.6%). The presence of CHD was related with neonatal hospitalisation (P=.04), hearing loss (P=.002), mortality (P=.09) and lower hyperactivity (P=.02), it being more frequent in HDAC8+ patients (60%), followed by NIPBL+ (33%) and SMC1A+ (28.5%). While septal defects predominate in NIPBL+, pulmonary stenosis is more common in HDAC8+. Patients with CdLS have a high incidence of CHD, which varies according to the affected gene, the most frequent findings being septal defects and pulmonary stenosis. Perform a cardiologic study in all these patients is suggested. Copyright © 2017 Elsevier España, S.L.U. All rights reserved.

  18. 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

  19. Growth curves in Down syndrome with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Caroline D’Azevedo Sica

    Full Text Available SUMMARY Introduction: To assess dietary habits, nutritional status and food frequency in children and adolescents with Down syndrome (DS and congenital heart disease (CHD. Additionally, we attempted to compare body mass index (BMI classifications according to the World Health Organization (WHO curves and curves developed for individuals with DS. Method: Cross-sectional study including individuals with DS and CHD treated at a referral center for cardiology, aged 2 to 18 years. Weight, height, BMI, total energy and food frequency were measured. Nutritional status was assessed using BMI for age and gender, using curves for evaluation of patients with DS and those set by the WHO. Results: 68 subjects with DS and CHD were evaluated. Atrioventricular septal defect (AVSD was the most common heart disease (52.9%. There were differences in BMI classification between the curves proposed for patients with DS and those proposed by the WHO. There was an association between consumption of vitamin E and polyunsaturated fatty acids. Conclusion: Results showed that individuals with DS are mostly considered normal weight for age, when evaluated using specific curves for DS. Reviews on specific curves for DS would be the recommended practice for health professionals so as to avoid precipitated diagnosis of overweight and/or obesity in this population.

  20. A case of successfully managed pregnancy in a patient with complex cyanotic congenital heart disease.

    Science.gov (United States)

    Liu, J Y; Tan, W K; Tan, E L; Tan, J L; Tan, L K

    2017-06-01

    Medical advances have increased survival of patients with congenital heart disease. However, cardiac disease in pregnancy carries significant maternal and fetal risks, posing enormous challenges to obstetricians. Cyanotic congenital heart disease is associated with maternal complications such as arrhythmias, thromboembolic events and death. Fetal complications include small for gestational age, miscarriage and prematurity. Cyanotic congenital heart disease patients who continue their pregnancies require holistic multidisciplinary team care with early and coordinated planning for delivery. Management of such patients include early counseling regarding pregnancy-associated risks, close monitoring of their cardiac function and regular scanning for fetal assessment. Choice of anesthesia for these patients requires meticulous planning to achieve a favorable balance between systemic and pulmonary vascular resistance, ensuring minimal change in right-to-left shunting. We report a case of a successfully managed pregnancy in a patient with complex congenital heart disease and a single ventricle of left ventricle morphology.

  1. Congenital Hypothyroidism

    Science.gov (United States)

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

  2. Prognosis of the Newborns with Congenital Heart Diseases

    Directory of Open Access Journals (Sweden)

    Akbar Molaei

    2015-07-01

    Full Text Available Background: Congenital heart disease (CHD is defined as problems affecting the heart of the fetus. According to previous studies, the incidence rate varies from 4-12 in 1000 live births. This study aimed to evaluate the demographic characteristics, clinical presentations, and findings that have impact on the prognosis of newborns hospitalized in Tabriz children Hospital, northwest of Iran. Methods: This cross-sectional study was conducted on 82 neonates with CHD admitted in Tabriz children Hospital, northwest of Iran from December 2011 to December 2012. Demographic characteristics, main complaints, symptoms, clinical presentations, associated anomalies, diagnoses, and also the correlation between the treatment process and mortality were evaluated. All data were analyzed using SPSS™ version 16 statistical software. Results: A total of 82 neonates with CHD were enrolled. The mean age and birth weight were 8.54 days and 2828.17 grams, respectively. The most common chief complaint was respiratory distress (58 cases, 70.73%. The most common diagnosis was d-transposition of great arteries and the most frequent therapeutic procedure was medical therapy in combination with mechanical ventilation (31 cases, 37.8%. 10 neonates (12.1% had complications while seizure was the most common complication of the study (4 case, 4.87%. Of 82 newborns in this study, 30 patients (36.6% died of which 13 cases (43.33% had DTGA; the most common therapeutic procedure was mechanical ventilation plus medical therapy which was performed in 22 patients (73.33%. In our study, no significant correlation could be observed between age, sex or weight of neonates and final outcome. Conclusion: Mortality of neonates with critical CHD is high. Also, the neonates treated with more invasive methods have higher mortality rates. It is obvious that both early detection and timely management affect ultimate prognosis of these patients. Hence, prenatal (fetal echocardiography and

  3. Congenital heart disease. Evaluation of anatomy and function by MRI

    Energy Technology Data Exchange (ETDEWEB)

    Rebergen, S.A.; Roos, A. de [Dept. of Radiology, Leiden Univ. Medical Center, Leiden (Netherlands)

    2000-06-01

    With the increasing number of patients surviving after therapeutic intervention for congenital heart disease (CHD), accurate and frequent follow-up of their morphologic and functional cardiovascular status is required, preferably with a noninvasive imaging technique. Echocardiography, either transthoracic or transesophageal, has been the first choice for this purpose, and will probably keep that status, at least in a large segment of the CHD spectrum. Magnetic resonance imaging (MRI) is an established method for high-resolution visualization of cardiovascular morphology. In the past decade, newer MRI techniques have been developed that allow functional evaluation of CHD patients. Particularly the introduction of breath-hold imaging, contrast-enhanced MRA and user-friendly computer software for image analysis may move functional MRI of CHD from the science laboratory to clinical use. It is already evident that MRI is superior to echocardiography in certain areas of limited echocardiographic acces, such as the pulmonary artery branches and the aortic arch in adult patients. But MRI has also a unique potential for accurate volumetric analysis of ventricular function and cardiovascular blood flow, without any geometric assumptions. If supported by increased cooperation between cardiologists and radiologists, MRI will grow into a useful noninvasive imaging tool that, together with echocardiography, will obviate the need for invasive catheter studies for diagnostic purposes. (orig.) [German] Weltweit werden jaehrlich etwa 1,5 Millionen Kinder mit kongenitalen Herzerkrankungen (CHD, congenital heart disease) geboren. Durch Verbesserung der verschiedenen chirurgischen und interventionellen Techniken ist die Ueberlebensrate von CHD-Patienten drastisch gestiegen. Immer mehr Patienten mit postoperativen Residuen, Folgezustaenden und Komplikationen benoetigen eine umfassende Nachsorge. Die Darstellung und Quantifizierung morphologischer und funktioneller kardiovaskulaerer

  4. A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Chengming Fan

    2015-01-01

    Full Text Available A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade.

  5. A Child with Lung Hypoplasia, Congenital Heart Disease, Hemifacial Microsomia, and Inguinal Hernia: Ipsilateral Congenital Malformations

    Science.gov (United States)

    Fan, Chengming; Huang, Can; Liu, Jijia; Yang, Jinfu

    2015-01-01

    A 3-year-old Chinese boy was diagnosed with ipsilateral congenital malformations: right lung hypoplasia, dextroversion of heart, atrial septal defect, hepatic vein drainage directly into the right atrium, facial asymmetry, right microtia and congenital deafness, and indirect inguinal hernia. He underwent indirect inguinal hernia repair at the age of 2. Although without any facial plastic surgery performed, he underwent a repair of atrial septal defect and recovered uneventfully. At 6-month follow-up, the patient was free from any symptom of dyspnea; his heart function returned to the first grade. PMID:26294998

  6. Addressing sexual health in congenital heart disease: when being the same isn't the same.

    Science.gov (United States)

    Loomba, Rohit S; Aggarwal, Saurabh; Pelech, Andrew N

    2015-01-01

    A larger number of individuals born with congenital heart disease is living into adolescence and young adulthood. With this comes the responsibility to counsel these patients regarding their sexual and reproductive health. This study utilizes representative data from the National Health and Nutrition Examination Survey to compare sexual measures including percentage of that sexually active, age of first sexual activity, number of sexual partners, condom use, and history of sexually transmitted diseases in those with and without congenital heart disease. A total of 1086 patients (1057 without congenital heart disease and 29 with congenital heart disease) were included in this study. Likelihood of being sexually active, age of first sexual intercourse, and condom use did not differ significantly between the two groups after multivariate analysis. Incidence of sexually transmitted disease did not differ between the two groups after multivariate analysis except for genital warts. There are no major differences in sexual measures between those with and without congenital heart disease. The absence of significant differences in sexual measures in those with congenital heart disease compared with the general population places this group of individuals at increased health risk known to occur with pregnancy.

  7. Homocysteine related Nutritional and Genetic Risk Factors for Human Congenital Heart Defects

    NARCIS (Netherlands)

    A.C. Verkleij-Hagoort (Anna)

    2007-01-01

    textabstractCongenital heart defects (CHDs) belong to the most common group of major congenital malformations in newborns. Most CHDs are considered complex diseases with a multifactorial aetiology, which are thought to result from interactions between genetic and environmental factors. This thesis p

  8. Routine prenatal screening for congenital heart disease: what can be expected? A decision-analytic approach

    NARCIS (Netherlands)

    E. Buskens (Erik); E.W. Steyerberg (Ewout); J. Hess (Jakob); J.W. Wladimiroff (Juriy); D.E. Grobbee (Diederick)

    1997-01-01

    textabstractOBJECTIVES: This study assessed the potential impact of fetal ultrasound screening on the number of newborns affected by cardiac anomalies. METHODS: A decision model was developed that included the prevalence and history of congenital heart disease, characte

  9. 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.

  10. Fibrinogen function is impaired in whole blood from patients with cyanotic congenital heart disease

    DEFF Research Database (Denmark)

    Jensen, A S; Johansson, P I; Bochsen, Louise;

    2013-01-01

    BACKGROUND: Patients with cyanotic congenital heart disease (CCHD) have haemostatic abnormities associated with bleeding and thrombo-embolic events. The haemostatic abnormalities are not fully understood, but recent studies indicate that elevated haematocrit and fibrinogen function may...

  11. Q and A: Birth Control for Women with Congenital Heart Disease

    Science.gov (United States)

    ... Research Home / Your Heart / Health Information / Birth Control Birth Control for Women with Congenital Heart Disease Of ... woman and/or the baby. For these women, birth control is more than just a method to ...

  12. Clinical features of adult patients with Eisenmenger syndrome associated with different types of congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    陈果

    2013-01-01

    Objective To explore the clinical features and hemodynamics of adult patients with Eisenmenger syndrome in different types of congenital heart diseases (CHD) .Methods Patients with Eisenmenger syndrome with different types of CHD diagnosed by right heart

  13. Routine prenatal screening for congenital heart disease: what can be expected? A decision-analytic approach

    NARCIS (Netherlands)

    E. Buskens (Erik); E.W. Steyerberg (Ewout); J. Hess (Jakob); J.W. Wladimiroff (Juriy); D.E. Grobbee (Diederick)

    1997-01-01

    textabstractOBJECTIVES: This study assessed the potential impact of fetal ultrasound screening on the number of newborns affected by cardiac anomalies. METHODS: A decision model was developed that included the prevalence and history of congenital heart disease, characte

  14. 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.

  15. The Importance of Nomenclature for Congenital Heart Disease: Implications for Research and Evaluation

    Science.gov (United States)

    Strickland, Matthew J; Riehle-Colarusso, Tiffany J; Jacobs, Jeffrey P; Reller, Mark D; Mahle, William T; Botto, Lorenzo D; Tolbert, Paige E; Jacobs, Marshall L; Lacour-Gayet, Francois G; Tchervenkov, Christo I; Mavroudis, Constantine; Correa, Adolfo

    2013-01-01

    Background Administrative databases are often used for congenital heart disease research and evaluation, with little validation of the accuracy of the diagnostic codes. Methods Metropolitan Atlanta Congenital Defects Program surveillance records were reviewed and classified using a version of the International Pediatric and Congenital Cardiac Code. Using this clinical nomenclature as the referent, we report the sensitivity and false positive fraction (1 – positive predictive value) of the International Classification of Diseases, Ninth Revision, Clinical Modification diagnosis codes for tetralogy of Fallot, transposition of the great arteries, and hypoplastic left heart syndrome. Results We identified 4918 infants and foetuses with congenital heart disease from the surveillance records. Using only the International Classification of Diseases diagnosis codes, there were 280 records with tetralogy, 317 records with transposition, and 192 records with hypoplastic left heart syndrome. Based on the International Pediatric and Congenital Cardiac Code, 330 records were classified as tetralogy, 163 records as transposition, and 179 records as hypoplastic left heart syndrome. The sensitivity of International Classification of Diseases diagnosis codes was 83% for tetralogy, 100% for transposition, and 95% for hypoplastic left heart syndrome. The false positive fraction was 2% for tetralogy, 49% for transposition, and 11% for hypoplastic left heart syndrome. Conclusions Analyses based on International Classification of Diseases diagnosis codes may have substantial misclassification of congenital heart disease. Isolating the major defect is difficult, and certain codes do not differentiate between variants that are clinically and developmentally different. PMID:19063779

  16. Genetic testing in congenital heart disease:A clinical approach

    Institute of Scientific and Technical Information of China (English)

    Marie A Chaix; Gregor Andelfinger; Paul Khairy

    2016-01-01

    Congenital heart disease(CHD) is the most common type of birth defect. Traditionally, a polygenic model defined by the interaction of multiple genes and environmental factors was hypothesized to account for different forms of CHD. It is now understood that the contribution of genetics to CHD extends beyond a single unified paradigm. For example, monogenic models and chromosomal abnormalities have been associated with various syndromic and non-syndromic forms of CHD. In such instances, genetic investigation and testing may potentially play an important role in clinical care. A family tree with a detailed phenotypic description serves as the initial screening tool to identify potentially inherited defects and to guide further genetic investigation. The selection of a genetic test is contingent upon the particular diagnostic hypothesis generated by clinical examination. Genetic investigation in CHD may carry the potential to improve prognosis by yielding valuable information with regards to personalized medical care, confidence in the clinical diagnosis, and/or targeted patient followup. Moreover, genetic assessment may serve as a tool to predict recurrence risk, define the pattern of inheritance within a family, and evaluate the need for further family screening. In some circumstances, prenatal or preimplantation genetic screening could identify fetuses or embryos at high risk for CHD. Although genetics may appear to constitute a highly specialized sector of cardiology, basic knowledge regarding inheritance patterns, recurrence risks, and available screening and diagnostic tools, including their strengths and limitations, could assist the treating physician in providing sound counsel.

  17. Congenital Heart Disease in Adolescents With Gluteal Muscle Contracture

    Science.gov (United States)

    You, Tian; Zhang, Xin-tao; Zha, Zhen-gang; Zhang, Wen-tao

    2015-01-01

    Abstract Gluteal muscle contracture (GMC), presented with hip abduction and external rotation when crouching, is common in several ethnicities, particularly in Chinese. It remains unclear that the reasons why these children are weak and have no choice to accept repeated intramuscular injection. Here, we found some unique cases which may be useful to explain this question. We describe a series of special GMC patients, who are accompanied with congenital heart disease (CHD). These cases were first observed in preoperative examinations of a patient with atrial septal defect (ASD), which was proved by chest X-ray and cardiac ultrasound. From then on, we gradually identified additional 3 GMC patients with CHD. The original patient with ASD was sent to cardiosurgery department to repair atrial septal first and received arthroscopic surgery later. While the other 3 were cured postoperative of ventricular septal defect (VSD), tetralogy of fallot (TOF), patent ductus arteriosus (PDA), respectively, and had surgery directly. The study gives us 3 proposals: (1) as to CHD children, it is essential to decrease the use of intramuscular injection, (2) paying more attention to cardiac examination especially cardiac ultrasound in perioperative period, and (3) taking 3D-CT to reconstruct gluteal muscles for observing contracture bands clearly in preoperation. However, more larger series of patients are called for to confirm these findings. PMID:25654394

  18. Congenital heart disease in adolescents with gluteal muscle contracture.

    Science.gov (United States)

    You, Tian; Zhang, Xin-tao; Zha, Zhen-gang; Zhang, Wen-tao

    2015-02-01

    Gluteal muscle contracture (GMC), presented with hip abduction and external rotation when crouching, is common in several ethnicities, particularly in Chinese. It remains unclear that the reasons why these children are weak and have no choice to accept repeated intramuscular injection. Here, we found some unique cases which may be useful to explain this question. We describe a series of special GMC patients, who are accompanied with congenital heart disease (CHD). These cases were first observed in preoperative examinations of a patient with atrial septal defect (ASD), which was proved by chest X-ray and cardiac ultrasound. From then on, we gradually identified additional 3 GMC patients with CHD. The original patient with ASD was sent to cardiosurgery department to repair atrial septal first and received arthroscopic surgery later. While the other 3 were cured postoperative of ventricular septal defect (VSD), tetralogy of fallot (TOF), patent ductus arteriosus (PDA), respectively, and had surgery directly. The study gives us 3 proposals: (1) as to CHD children, it is essential to decrease the use of intramuscular injection, (2) paying more attention to cardiac examination especially cardiac ultrasound in perioperative period, and (3) taking 3D-CT to reconstruct gluteal muscles for observing contracture bands clearly in preoperation. However, more larger series of patients are called for to confirm these findings.

  19. Changing demographics of pulmonary arterial hypertension in congenital heart disease

    Directory of Open Access Journals (Sweden)

    B.J.M. Mulder

    2010-12-01

    Full Text Available Pulmonary arterial hypertension (PAH is a serious complication of congenital heart disease (CHD. Without early surgical repair, around one-third of paediatric CHD patients develop significant PAH. Recent data from the Netherlands suggest that >4% of adult CHD patients have PAH, with higher rates in those with septal defects. A spectrum of cardiac defects is associated with PAH-CHD, although most cases develop as a consequence of large systemic-to-pulmonary shunts. Eisenmenger's syndrome, characterised by reversed pulmonary-to-systemic (right-to-left shunt, represents the most advanced form of PAH-CHD and affects as many as 50% of those with PAH and left-to-right shunts. It is associated with the poorest outcome among patients with PAH-CHD. 40 yrs ago, ∼50% of children with CHD requiring intervention died within the first year, and <15% survived to adulthood. Subsequent advances in paediatric cardiology have seen most patients with CHD survive to adulthood, with resulting shifts in the demographics of CHD and PAH-CHD. The number of adults presenting with CHD is increasing and, although mortality is decreasing, morbidity is increasing as older patients are at increased risk of arrhythmia, heart failure, valve regurgitation and PAH. Data show that probability of PAH increases with age in patients with cardiac defects.

  20. Autonomic regulation in fetuses with congenital heart disease.

    Science.gov (United States)

    Siddiqui, Saira; Wilpers, Abigail; Myers, Michael; Nugent, J David; Fifer, William P; Williams, Ismée A

    2015-03-01

    Exposure to antenatal stressors affects autonomic regulation in fetuses. Whether the presence of congenital heart disease (CHD) alters the developmental trajectory of autonomic regulation is not known. This prospective observational cohort study aimed to further characterize autonomic regulation in fetuses with CHD; specifically hypoplastic left heart syndrome (HLHS), transposition of the great arteries (TGA), and tetralogy of Fallot (TOF). From 11/2010 to 11/2012, 92 fetuses were enrolled: 41 controls and 51 with CHD consisting of 19 with HLHS, 12 with TGA, and 20 with TOF. Maternal abdominal fetal electrocardiogram (ECG) recordings were obtained at 3 gestational ages: 19-27 weeks (F1), 28-33 weeks (F2), and 34-38 weeks (F3). Fetal ECG was analyzed for mean heart rate along with 3 measures of autonomic variability of the fetal heart rate: interquartile range, standard deviation, and root mean square of the standard deviation of the heart rate (RMSSD), a measure of parasympathetic activity. During F1 and F2 periods, HLHS fetuses demonstrated significantly lower mean HR than controls (pHeart rate variability at F3, as measured by standard deviation, interquartile range, and RMSSD was lower in HLHS than controls (p<0.05). Other CHD subgroups showed a similar, though non-significant trend towards lower variability. Autonomic regulation in CHD fetuses differs from controls, with HLHS fetuses most markedly affected. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. Management of supraventricular arrhythmias in adults with congenital heart disease.

    Science.gov (United States)

    Wasmer, Kristina; Eckardt, Lars

    2016-10-15

    Supraventricular arrhythmias are a frequent complication in adults with congenital heart disease (ACHD). The prevalence increases with time since surgery, complexity of the underlying defect, type of repair and older age at surgery. Arrhythmias are the most frequent reason for hospital admission and along with heart failure the leading cause of death. The arrhythmia-associated increase in morbidity and mortality makes their management a key task in patients with ACHD. Intra-atrial re-entry is the most frequent arrhythmia mechanism. Less common arrhythmia mechanisms are supraventricular tachycardias in the presence of an accessory pathway, atrioventricular nodal re-entrant tachycardia or focal tachycardias. Patient management includes stroke prevention, acute termination and prevention of arrhythmia recurrence. Acute treatment depends on patients' symptoms. In cases of haemodynamic instability, immediate cardioversion is warranted. For stable patients, acute treatment includes rate control and termination by antiarrhythmic drugs or electrical cardioversion. Following a symptomatic arrhythmia, catheter ablation or treatment with antiarrhythmic drugs is recommended to prevent recurrences. Advances in mapping and ablation technology are now associated with high success rates of catheter ablation. In patients with a complex substrate recurrence rates of 50% remain high. However, in the presence of side effects and complications associated with long-term antiarrhythmic drug therapy, redo procedures are encouraged by current guidelines. 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/

  2. Prevalence of congenital heart diseases in oral cleft patients.

    Science.gov (United States)

    Barbosa, M M; Rocha, C M G; Katina, T; Caldas, M; Codorniz, A; Medeiros, C

    2003-01-01

    To establish the prevalence of congenital heart diseases (CHDs) in cleft patients, the type of cleft and the presence of a syndrome were coded in 220 patients. A Doppler echocardiogram with color-flow mapping (DE) was obtained in all patients. Mean age was 112.0 +/- 101.2 months (range, 1-576 months), and 56.8% (125) were males. Cleft lip and palate occurred in 144 patients (65.5%), cleft lip in 40 (18.2%), and cleft palate in 36 (16.4%). Cleft palates were more frequent among females. Twenty-four CHDs were diagnosed in 21 of 220 patients (9.5%): 7 mitral valve prolapses, 6 atrial septal defects, 4 patent ductus arteriosus, 3 ventricular septal defects, 2 cases of tetralogy of Fallot, 1 pulmonary stenosis, and 1 bicuspid aortic valve. The presence of CHD did not correlate with the type of cleft. Syndromes occurred in 28 patients (12.7%), and this association was higher among patients with a cleft palate.

  3. Academic proficiency in children after early congenital heart disease surgery.

    Science.gov (United States)

    Mulkey, Sarah B; Swearingen, Christopher J; Melguizo, Maria S; Reeves, Rachel N; Rowell, Jacob A; Gibson, Neal; Holland, Greg; Bhutta, Adnan T; Kaiser, Jeffrey R

    2014-02-01

    Children with early surgery for congenital heart disease (CHD) are known to have impaired neurodevelopment; their performance on school-age achievement tests and their need for special education remains largely unexplored. The study aimed to determine predictors of academic achievement at school age and placement in special education services among early CHD surgery survivors. Children with CHD surgery at codes. Predictors for achieving proficiency in literacy and mathematics and the receipt of special education were determined. Two hundred fifty-six children who attended Arkansas public schools and who had surgery as infants were included; 77.7 % had either school-age achievement-test scores or special-education codes of mental retardation or multiple disabilities. Scores on achievement tests for these children were 7-13 % lower than those of Arkansas students (p < 0.01). They had an eightfold increase in receipt of special education due to multiple disabilities [odds ratio (OR) 10.66, 95 % confidence interval (CI) 4.23-22.35] or mental retardation (OR 4.96, 95 % CI 2.6-8.64). Surgery after the neonatal period was associated with decreased literacy proficiency, and cardiopulmonary bypass during the first surgery was associated with decreased mathematics proficiency. Children who had early CHD surgery were less proficient on standardized school assessments, and many received special education. This is concerning because achievement-test scores at school age are "real-world" predictors of long-term outcomes.

  4. Bioengineering and Stem Cell Technology in the Treatment of Congenital Heart Disease

    Science.gov (United States)

    Bosman, Alexis; Edel, Michael J.; Blue, Gillian; Dilley, Rodney J.; Harvey, Richard P.; Winlaw, David S.

    2015-01-01

    Congenital heart disease places a significant burden on the individual, family and community despite significant advances in our understanding of aetiology and treatment. Early research in ischaemic heart disease has paved the way for stem cell technology and bioengineering, which promises to improve both structural and functional aspects of disease. Stem cell therapy has demonstrated significant improvements in cardiac function in adults with ischaemic heart disease. This finding, together with promising case studies in the paediatric setting, demonstrates the potential for this treatment in congenital heart disease. Furthermore, induced pluripotent stems cell technology, provides a unique opportunity to address aetiological, as well as therapeutic, aspects of disease. PMID:26239354

  5. Fetal echocardiographic screening in twins for congenital heart diseases

    Institute of Scientific and Technical Information of China (English)

    LI Hui; MENG Tao; SHANG Tao; GUAN Yun-ping; ZHOU Wei-wei; YANG Guang; BI Li-hua

    2007-01-01

    Background Congenital heart disease (CHD) is the most common congenital disorder at birth. Yagel and colleagues's method of heart examination has been proved valuable in finding CHD prenatally in single pregnancies. The aim of this study was to analyze the frequency of CHD in twin pregnancies and the sensitivity of the method.Methods A total of 1103 pregnant women with twins were enrolled in this study, including 127 cases with high-risk for CHD. Five transverse ultrasound measurements were used for fetal heart examination, including the upper abdomen view, four-chamber view, five-chamber view, pulmonary artery bifurcation view, and three-vessel view. In the fetuses who were diagnosed with CHD and whose parents requested termination of the pregnancy, autopsy of the fetal heart was performed after an abortion, and a blood sample was collected from the heart for chromosome evaluation. In the other fetuses, a close follow-up was conducted by echocardiography within one year after birth.Results Antenatally, CHD was found in 12 twins, of which 4 were from the high-risk group (3.15%), and 8 from the low-risk group (0.82%). In 2 pairs of the twins, the two fetuses had a same kind of CHD (one pair had tetralogy of Fallot (TOF), another pair had rhabdomyoma). Another pair had different types of anomaly (one fetus had TOF, and the other duodenal atresia with a normal heart). Termination of pregnancy was performed in these three pairs and the autopsy of the fetal heart confirmed the ultrasound findings. In the other 9 pairs, CHD was detected in one fetus, and a normal heart in the others. In the cases who received chromosome evaluation, 2 had abnormal chromosomes. During the follow-up after birth, heart examinations confirmed the prenatal diagnosis in 7 of the 9. The diagnosis of CHD was missed antenatally in 2 pairs of twins. In both the cases, one fetus was normal, and the other was confirmed as having CHD after birth (small ventricle septum defect in one, and persistent

  6. 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.

  7. Sense of coherence in young people with congenital heart disease.

    Science.gov (United States)

    Apers, Silke; Luyckx, Koen; Goossens, Eva; Rassart, Jessica; Budts, Werner; Moons, Philip

    2015-05-01

    Patient-reported outcomes (PROs) have been found to play a role in the development of clinical complications. Hence, it is crucial to understand why some patients do well in terms of PROs and others do not and to identify these groups of patients. Sense of coherence (SOC), capturing a person's outlook on life, is associated with PROs in adolescents with congenital heart disease (CHD). Therefore, we (1) examine how SOC develops in young people with CHD, (2) identify subgroups of SOC development, and (3) characterize subgroups in terms of demographic and clinical variables and PROs. In this 4-wave longitudinal study, 429 adolescents with CHD (53.4% boys; median age = 16.3 years) completed assessments of SOC (SOC-13). PROs included quality of life (linear analog scale), loneliness (UCLA-8), depression (CES-D), and perceived health (PedsQL). Latent class growth analysis was used to identify clinically meaningful subgroups of SOC development. Patients with CHD had a moderate SOC that slightly decreased over the first 18 months. Four subgroups of SOC development emerged: Consistently High (27%), Intermediate Stable (41%), Intermediate Decreasing (25%), and Chronically Low (7%). Subgroups differed in terms of sex and PROs, but not in terms of age, disease complexity, primary diagnosis, or surgical history. Patients with a strong and stable SOC over time showed a better adaptation than patients with a lower and/or decreasing SOC. Our results can guide the identification of patients at risk for adverse health outcomes and the development of interventions to enhance optimal living in patients with CHD.

  8. Early Congenital Syphilis: Recognising Symptoms of an Increasingly Prevalent Disease.

    Science.gov (United States)

    Patel, Nupur U; Oussedik, Elias; Landis, Erin T; Strowd, Lindsay C

    2017-08-01

    Congenital syphilis (CS) is an infectious disease resulting from transplacental transmission of Treponema pallidum spirochetes from an infected mother to fetus during pregnancy. While uncommon, CS has shown an increased incidence in Canada and the United States since 2001 and 2012, respectively. We present the case of a 5-week-old female infant with blistering rash on the palms and soles. The infant displayed decreased movement of the left upper extremity, clinically consistent with Parrot pseudoparalysis. Cutaneous involvement was limited to few tan crusted papules on the palms and soles. Mother reported a "false-positive" result of rapid plasma reagin (RPR) testing at 31 weeks. Cerebrospinal fluid studies of the infant resulted with positive Venereal Disease Research Laboratory (VRDL) test and positive microhemagglutination assay (MHA-TP). Histopathology of a crusted papule revealed a lichenoid infiltrate composed of lymphocytes, histiocytes, and plasma cells. Immunohistochemical staining for T pallidum was negative. The patient completed treatment with a 10-day course of intravenous penicillin. While CS is largely considered a historic entity, it has been increasing in incidence in the United States since 2012 and in Canada since the early 2000s. Diagnosis of CS can be difficult as infants may be asymptomatic or present with nonspecific signs. This case highlights the presentation of minimal cutaneous involvement as well as skeletal involvement after birth. RPR testing may result in false negatives or indeterminate results, further complicating diagnosis. Given these difficulties in screening and the increasing incidence of CS, clinicians may need to refamiliarise themselves with its clinical findings.

  9. Cardiac biomarkers in children with congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    Masaya Sugimoto; Seiko Kuwata; Clara Kurishima; Jeong Hye Kim; Yoich Iwamoto; Hideaki Senzaki

    2015-01-01

    Background: Most congenital heart diseases (CHDs) have specific hemodynamics, including volume and pressure overload, as well as cyanosis and pulmonary hypertension, associated with anatomical abnormalities. Such hemodynamic abnormalities can cause activation of neurohormones, inflammatory cytokines, fibroblasts, and vascular endothelial cells, which in turn contribute to the development of pathologic conditions such as cardiac hypertrophy,fi brosis, and cardiac cell damages and death. Measuring biomarker levels facilitates the prediction of these pathological changes, and provides information about the stress placed on the myocardial cells, the severity of the damage, the responses of neurohumoral factors, and the remodeling of the ventricle. Compared to the ample information on cardiac biomarkers in adult heart diseases, data from children with CHD are still limited. Data sources: We reviewed cardiac biomarkers-specifi cally focusing on troponin as a biomarker of myocardial damage, amino-terminal procollagen type III peptide (PIIIP) as a biomarker of myocardialfi brosis and stromal remodeling, and B-type natriuretic peptide (BNP)/N-terminal proBNP as biomarkers of cardiac load and heart failure, by introducing relevant publications, including our own, on pediatric CHD patients as well as adults. Results: Levels of highly sensitive troponin I are elevated in patients with atrial septal defects (ASDs) and ventricular septal defects (VSDs). PIIIP levels are also elevated in patients with ASD, VSD, pulmonary stenosis, and Tetralogy of Fallot. Measurement of BNP and N-terminal proBNP levels shows good correlation with heart failure score in children. Conclusions: In the treatment of children with CHD requiring delicate care, it is vital to know the specifi c degree of myocardial damage and severity of heart failure. Cardiac biomarkers are useful tools for ascertaining the condition of CHDs with ease and are likely to be useful in determining the appropriate care of

  10. Coronary artery problems and disease in adults with congenital heart disease: how to evaluate, how to prevent, how to treat.

    Science.gov (United States)

    Cataldo, S; Stuart, A G

    2014-10-01

    There are a wide variety of coronary artery anomalies and disease in adults with congenital heart disease (CHD). In fact, the increasing burden of acquired coronary artery disease (CAD) has to be considered in addition to congenital abnormalities of the coronary arteries, isolated or associated to other congenital diseases. This is largely a consequence of the increasing number of patients reaching older age. Due to complex underlying cardiac anatomy, previous surgery and comorbidities, treatment can be challenging. Individualized and multidisciplinary management involving congenital heart cardiologists, cardiac surgeons, coronary interventionists and imaging specialists is essential. This review gives an overview of coronary artery involvement in adults with CHD, summarizes the current literature and focuses on prevention, diagnosis and treatment. The potential role of cardiovascular risk factors for CAD is also discussed.

  11. Isolation and characterization of cardiogenic, stem-like cardiac precursors from heart samples of patients with congenital heart disease.

    Science.gov (United States)

    Ghazizadeh, Zaniar; Vahdat, Sadaf; Fattahi, Faranak; Fonoudi, Hananeh; Omrani, Gholamreza; Gholampour, Maziar; Aghdami, Nasser

    2015-09-15

    Regenerative therapies based on resident human cardiac progenitor cells (hCPCs) are a promising alternative to medical treatments for patients with myocardial infarction. However, hCPCs are rare in human heart and finding efficient source and proper surface marker for isolation of these cells would make them a good candidate for therapy. We have isolated 5.34∗10(6)±2.04∗10(5)/g viable cells from 35 heart tissue samples of 23 patients with congenital heart disease obtained during their heart surgery along with 6 samples from 3 normal subjects during cardiac biopsy. According to FACS analysis, younger ages, atrial specimen and disease with increased pulmonary vascular resistance were associated with higher percentage of c-kit(+) (CD117) hCPCs. Analysis for other stemness markers revealed increased CD133(+) cells in the hearts of patients with congenital heart disease. By using both immune-labeling and PCR, we demonstrated that these cells express key cardiac lineage and endothelial transcription factors and structural proteins during in vitro differentiation and do express stemness transcription factors in undifferentiated state. Another novel datum of potentially relevant interest is their ability in promoting greater myocardial regeneration and better survival in rat model of myocardial infarction following transplantation. Our results could provide evidence for conditions associated with enriched hCPCs in patients with congenital heart disease. Moreover, we showed presence of a significant number of CD133 expressing cardiogenic stem-like cardiac precursors in the heart of patients with congenital heart disease, which could be isolated and stored for future regenerative therapies in these patients. Copyright © 2015 Elsevier Inc. All rights reserved.

  12. Body mass index in adult congenital heart disease.

    Science.gov (United States)

    Brida, Margarita; Dimopoulos, Konstantinos; Kempny, Alexander; Liodakis, Emmanouil; Alonso-Gonzalez, Rafael; Swan, Lorna; Uebing, Anselm; Baumgartner, Helmut; Gatzoulis, Michael A; Diller, Gerhard-Paul

    2017-08-01

    Abnormal body mass index (BMI) is associated with higher mortality in various cardiovascular cohorts. The prognostic implications of BMI in adults with congenital heart disease (ACHD) are unknown. We aim to assess the distribution of BMI and its association with symptoms and survival in the ACHD population. We included 3069 ACHD patients (median age 32.6 years) under follow-up at our institution between 2001 and 2015. Patients were classified based on BMI as underweight (30), and symptoms, exercise capacity and mortality were assessed. Overall, 6.2% of patients were underweight, 51.1% had normal weight, 28.2% were overweight and 14.6% were obese. Higher BMI values were associated with lower all-cause and cardiac mortality on univariable Cox analysis, and this effect persisted after adjustment for age, defect complexity, cyanosis and objective exercise capacity. Higher BMI was especially associated with better prognosis in symptomatic ACHD patients (HR 0.94 (95% CI 0.90 to 0.98), p=0.002) and those with complex underlying cardiac defects (HR 0.96 (95% CI 0.91 to 0.997), p=0.048) In patients with a complex cardiac defect who had repeated weight measurements, weight loss was also associated with a worse survival (HR 1.82 (95% CI 1.02 to 3.24), p=0.04). ACHD patients with a higher BMI had a lower mortality. The association between BMI and mortality was especially pronounced in symptomatic patients with complex underlying cardiac defects, suggesting that cardiac cachexia may play a role. Indeed, weight loss in complex ACHD patients was linked to an even higher mortality. © 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.

  13. Contemporary cardiac surgery for adults with congenital heart disease.

    Science.gov (United States)

    Beurtheret, Sylvain; Tutarel, Oktay; Diller, Gerhard Paul; West, Cathy; Ntalarizou, Evangelia; Resseguier, Noémie; Papaioannou, Vasileios; Jabbour, Richard; Simpkin, Victoria; Bastin, Anthony J; Babu-Narayan, Sonya V; Bonello, Beatrice; Li, Wei; Sethia, Babulal; Uemura, Hideki; Gatzoulis, Michael A; Shore, Darryl

    2017-08-01

    Advances in early management of congenital heart disease (CHD) have led to an exponential growth in adults with CHD (ACHD). Many of these patients require cardiac surgery. This study sought to examine outcome and its predictors for ACHD cardiac surgery. This is an observational cohort study of prospectively collected data on 1090 consecutive adult patients with CHD, undergoing 1130 cardiac operations for CHD at the Royal Brompton Hospital between 2002 and 2011. Early mortality was the primary outcome measure. Midterm to longer-term survival, cumulative incidence of reoperation, other interventions and/or new-onset arrhythmia were secondary outcome measures. Predictors of early/total mortality were identified. Age at surgery was 35±15 years, 53% male, 52.3% were in New York Heart Association (NYHA) class I, 37.2% in class II and 10.4% in class III/IV. Early mortality was 1.77% with independent predictors NYHA class ≥ III, tricuspid annular plane systolic excursion (TAPSE) <15 mm and female gender. Over a mean follow-up of 2.8±2.6 years, 46 patients died. Baseline predictors of total mortality were NYHA class ≥ III, TAPSE <15 mm and non-elective surgery. The number of sternotomies was not independently associated with neither early nor total mortality. At 10 years, probability of survival was 94%. NYHA class among survivors was significantly improved, compared with baseline. Contemporary cardiac surgery for ACHD performed at a single, tertiary reference centre with a multidisciplinary approach is associated with low mortality and improved functional status. Also, our findings emphasise the point that surgery should not be delayed because of reluctance to reoperate only. © 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.

  14. Anthropometric profiles of children with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Damayanti R. Sjarif

    2011-02-01

    Full Text Available Background: Undernutrition is a common cause of morbidity in children with CHD. Previous data from developing country showed prevalence of preoperative undernutrition in children with CHD was up to 45%. The aim of this study are to determine the anthropometric profiles and prevalence of undernutrition in children with CHD by using the anthropometric measurement.Methods: A cross-sectional study was carried out in children aged 0-2 years old with CHD in Cipto Mangunkusumo hospital. All patients underwent an anthropometric evaluation (weight, length and head circumference at presentation. Undernutrition, failure to thrive /FTT, short stature and microcephaly were determined according to WHO, weight-for-length, weight-for-age at 2 points, length-for-age, head circumference-for-age z-score < -2SD accordingly.Results: We had total of 95 patients, 73 patients with acyanotic and 22 patients with cyanotic lesions. Prevalence of undernutrition in CHD was 51.1%, with 22.3% severe undernutrition. FTT was found in 64.9%, short stature in 49.5% and microcephaly in  37% patients. FTT was found higher in acyanotic (72.2% compared to cyanotic lesions (42.9%. In acyanotic, weight was affected more than length (72.2% vs 49.3%. In cyanotic, weight and length affected equally (42.9% vs 54.5%. Diet counseling were done in patients with undernutrition. Medicines, transcatheter or surgery intervention were indicated in selected patients.Conclusions: Prevalence of FTT was higher than undernutrition in children with CHD. FTT was found higher in acyanotic lesions. In acyanotic, weight was affected more than length. In cyanotic, weight and length affected equally. (Med J Indones 2011; 20:40-5Keywords: congenital heart disease, failure to thrive, short stature, undernutrition

  15. Fetal Growth and Neurodevelopmental Outcome in Congenital Heart Disease

    Science.gov (United States)

    Fifer, William P.; Andrews, Howard

    2017-01-01

    We evaluated differences in growth between fetuses with and without congenital heart disease (CHD) and tested associations between growth and early childhood neurodevelopment (ND). In this prospective cohort study, fetuses with hypoplastic left heart syndrome (HLHS), transposition of the great arteries (TGA), and tetralogy of Fallot (TOF) and controls had biparietal diameter (BPD), head (HC) and abdominal circumference (AC), femur length (FL), and estimated fetal weight (EFW) recorded serially during pregnancy at 18and controls were assessed using–26 weeks GA (F1), at 27–33 weeks GA (F2), and at 34–40 weeks GA (F3). CHD subjects underwent Bayley Scales of Infant Development-III ND testing at 18 months. Differences between CHD fetuses and controls were assessed using t tests and generalized linear modeling. Correlations between biometry and ND informed regression modeling. We enrolled 41 controls and 68 fetuses with CHD (N = 24 HLHS, N = 21 TGA, N = 23 TOF), 46 of whom had ND scores available. At 18–26 weeks, CHD fetuses were smaller than controls in all biometric parameters. Differences in growth rates were observed for HC, BPD, and AC, but not for FL or EFW. Cognitive score correlated with HC/AC at F2 (r = −0.33, P = 0.04) and mean HC/AC across gestation (r = −0.35, P = 0.03). Language correlated with FL/BPD at F2 (r = 0.34, P = 0.04). In stepwise linear regression, mean HC/AC predicted Cognition (B = −102, P = 0.026, R2 = 0.13) and FL/BPD at F2 predicted Language score (B = 127, P = 0.03, R2 = 0.12). Differences in growth between CHD fetuses and controls can be measured early in pregnancy. In CHD fetuses, larger abdominal relative to head circumference is associated with better 18-month neurodevelopment. PMID:25753684

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

    Science.gov (United States)

    Passantino, Annamaria; Pugliese, Michela; Quartarone, Valeria; Russo, Natalia; Bussadori, Roberto; Guercio, Bartolomeo

    2017-01-01

    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. PMID:28246457

  17. 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.

  18. Bilateral congenital lumbar hernias in a patient with central core disease--A case report.

    Science.gov (United States)

    Lazier, Joanna; Mah, Jean K; Nikolic, Ana; Wei, Xing-Chang; Samedi, Veronica; Fajardo, Carlos; Brindle, Mary; Perrier, Renee; Thomas, Mary Ann

    2016-01-01

    Congenital lumbar hernias are rare malformations caused by defects in the development of the posterior abdominal wall. A known association exists with lumbocostovertebral syndrome; however other associated anomalies, including one case with arthrogryposis, have been previously reported. We present an infant girl with bilateral congenital lumbar hernias, multiple joint contractures, decreased muscle bulk and symptoms of malignant hyperthermia. Molecular testing revealed an R4861C mutation in the ryanodine receptor 1 (RYR1) gene, known to be associated with central core disease. This is the first reported case of the co-occurrence of congenital lumbar hernias and central core disease. We hypothesize that ryanodine receptor 1 mutations may interrupt muscle differentiation and development. Further, this case suggests an expansion of the ryanodine receptor 1-related myopathy phenotype to include congenital lumbar hernias.

  19. Study of Soluble HLA-G in Congenital Human Cytomegalovirus Infection

    Science.gov (United States)

    Gabrielli, Liliana; Bortolotti, Daria; Gentili, Valentina; Piccirilli, Giulia; Chiereghin, Angela; Pavia, Claudia; Bolzani, Silvia; Guerra, Brunella; Simonazzi, Giuliana; Cervi, Francesca; Capretti, Maria Grazia; Luca, Dario Di; Landini, Maria Paola; Lazzarotto, Tiziana

    2016-01-01

    Human leukocyte antigen-G (HLA-G) is a nonclassical HLA class I antigen that is expressed during pregnancy contributing to maternal-fetal tolerance. HLA-G can be expressed as membrane-bound and soluble forms. HLA-G expression increases strongly during viral infections such as congenital human cytomegalovirus (HCMV) infections, with functional consequences in immunoregulation. In this work we investigated the expression of soluble (s)HLA-G and beta-2 microglobulin (component of HLA) molecules in correlation with the risk of transmission and severity of congenital HCMV infection. We analyzed 182 blood samples from 130 pregnant women and 52 nonpregnant women and 56 amniotic fluid samples from women experiencing primary HCMV infection. The median levels of sHLA-G in maternal serum of women with primary HCMV infection were higher in comparison with nonprimary and uninfected pregnant women (p < 0.001). AF from HCMV symptomatic fetuses presented higher sHLA-G levels in comparison with infected asymptomatic fetuses (p < 0.001), presence of HLA-G free-heavy chain, and a concentration gradient from amniotic fluid to maternal blood. No significant statistical difference of beta-2 microglobulin median levels was observed between all different groups. Our results suggest the determination of sHLA-G molecules in both maternal blood and amniotic fluid as a promising biomarker of diagnosis of maternal HCMV primary infection and fetal HCMV disease. PMID:27699182

  20. [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.

  1. 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.

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

    Science.gov (United States)

    Bertoletti, Juliana; Marx, Giovana Caroline; Hattge, Sérgio Pedro; 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. PMID:24676375

  3. The effect of a resilience improvement program for adolescents with complex congenital heart disease.

    Science.gov (United States)

    Lee, Sunhee; Lee, Junga; Choi, Jae Young

    2017-04-01

    Adolescents with congenital heart disease need to increase their resilience in the face of challenges in order to preserve their health and quality of life. This study aimed to develop a resilience improvement program for adolescents with congenital heart disease and also to evaluate any change in resilience and quality of life as a measure of the effectiveness of the resilience improvement programs. A nonequivalent control group pretest-posttest study was designed. Twenty-five adolescents who attended the first resilience improvement program were included in the experimental group, and 31 adolescents who took part in the second program were placed in the control group. Adolescents with congenital heart disease completed a self-report questionnaire on three separate occasions: the pretest, the first posttest and the second posttest. The self-report questionnaire included general characteristics and instruments to measure resilience and quality of life. For the longitudinal analysis, generalized estimating equations were used to evaluate the difference in the estimated average trajectories of resilience and quality of life changes. Independent predictors of resilience improvement in adolescents with congenital heart disease were the experimental group ( p=0.02) and middle and high school students ( p=0.02). Quality of life was not associated with membership in the experimental group. However, males scored higher than females on quality of life measures ( p=0.02). It is essential for healthcare providers to apply various programs, including those targeted at accepting illness, improving autonomy and independently managing disease, to adolescents with congenital heart disease.

  4. Prepregnancy Diabetes and Offspring Risk of Congenital Heart Disease

    DEFF Research Database (Denmark)

    Øyen, Nina; Diaz, Lars Jorge; Leirgul, Elisabeth

    2016-01-01

    BACKGROUND: Maternal diabetes mellitus is associated with an increased risk of offspring congenital heart defects (CHD); however, the causal mechanism is poorly understood. We further investigated this association in a Danish nationwide cohort. METHODS AND RESULTS: In a national cohort study, we...

  5. Noteworthy Literature in 2015: Anesthesia for Congenital Heart Disease.

    Science.gov (United States)

    Twite, Mark; Ing, Richard J

    2016-03-01

    This article is a review of the literature published during the 12 months of 2015, which is of interest to the congenital cardiac anesthesiologist. While the review is not exhaustive, it identifies 7 themes in the literature for 2015 and cites 78 peer-reviewed publications.

  6. Leber congenital amaurosis: genes, proteins and disease mechanisms.

    NARCIS (Netherlands)

    Hollander, A.I. den; Roepman, R.; Koenekoop, R.K.; Cremers, F.P.M.

    2008-01-01

    Leber congenital amaurosis (LCA) is the most severe retinal dystrophy causing blindness or severe visual impairment before the age of 1 year. Linkage analysis, homozygosity mapping and candidate gene analysis facilitated the identification of 14 genes mutated in patients with LCA and juvenile retina

  7. Prepregnancy Diabetes and Offspring Risk of Congenital Heart Disease

    DEFF Research Database (Denmark)

    Øyen, Nina; Diaz, Lars Jorge; Leirgul, Elisabeth;

    2016-01-01

    BACKGROUND: Maternal diabetes mellitus is associated with an increased risk of offspring congenital heart defects (CHD); however, the causal mechanism is poorly understood. We further investigated this association in a Danish nationwide cohort. METHODS AND RESULTS: In a national cohort study, we...

  8. Basic imaging in congenital heart disease. 3rd Ed

    Energy Technology Data Exchange (ETDEWEB)

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

    1986-01-01

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

  9. Canadian Cardiovascular Society 2009 Consensus Conference on the management of adults with congenital heart disease: complex congenital cardiac lesions.

    Science.gov (United States)

    Silversides, Candice K; Salehian, Omid; Oechslin, Erwin; Schwerzmann, Markus; Vonder Muhll, Isabelle; Khairy, Paul; Horlick, Eric; Landzberg, Mike; Meijboom, Folkert; Warnes, Carole; Therrien, Judith

    2010-03-01

    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 their cardiac disease can be associated with pulmonary hypertension, thromboemboli, complex arrhythmias and sudden death. Medical aspects that need to be considered relate to the long-term and multisystemic effects of single ventricle physiology, cyanosis, systemic right ventricles, complex intracardiac baffles and failing subpulmonary right ventricles. Since the 2001 Canadian Cardiovascular Society Consensus Conference report on the management of adults with CHD, there have been significant advances in the field of adult CHD. Therefore, new clinical guidelines have been written by Canadian adult CHD physicians in collaboration with an international panel of experts in the field. Part III of the guidelines includes recommendations for the care of patients with complete transposition of the great arteries, congenitally corrected transposition of the great arteries, Fontan operations and single ventricles, Eisenmenger's syndrome, and cyanotic heart disease. Topics addressed include genetics, clinical outcomes, recommended diagnostic workup, surgical and interventional options, treatment of arrhythmias, assessment of pregnancy risk and follow-up requirements. The complete document consists of four manuscripts, which are published online in the present issue of The Canadian Journal of Cardiology. The complete document and references can also be found at www.ccs.ca or www.cachnet.org.

  10. Anticoagulation in adults with congenital heart disease: The who, the when and the how?

    Science.gov (United States)

    Jensen, A S; Idorn, L; Nørager, B; Vejlstrup, N; Sondergaard, L

    2015-03-01

    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. 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. 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 recommendations for which patients are likely to benefit from which anticoagulation treatments, when they should be considered and how these would be carried out.

  11. 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.

  12. Late Detection of Critical Congenital Heart Disease Among US Infants

    Science.gov (United States)

    Peterson, Cora; Ailes, Elizabeth; Riehle-Colarusso, Tiffany; Oster, Matthew E.; Olney, Richard S.; Cassell, Cynthia H.; Fixler, David E.; Carmichael, Suzan L.; Shaw, Gary M.; Gilboa, Suzanne M.

    2015-01-01

    IMPORTANCE Critical congenital heart disease (CCHD) was added to the Recommended Uniform Screening Panel for Newborns in the United States in 2011. Many states have recently adopted or are considering requirements for universal CCHD screening through pulse oximetry in birth hospitals. Limited previous research is directly applicable to the question of how many US infants with CCHD might be identified through screening. OBJECTIVES To estimate the proportion of US infants with late detection of CCHD (>3 days after birth) based on existing clinical practice and to investigate factors associated with late detection. DESIGN, SETTING, AND PARTICIPANTS Descriptive and multivariable analysis. Data were obtained from a multisite population-based study of birth defects in the United States, the National Birth Defects Prevention Study (NBDPS). We included all live-born infants with estimated dates of delivery from January 1, 1998, through December 31, 2007, and nonsyndromic, clinically verified CCHD conditions potentially detectable through screening via pulse oximetry. MAIN OUTCOMES AND MEASURES The main outcome measure was the proportion of infants with late detection of CCHD through echocardiography or at autopsy under the assumption that universal screening at birth hospitals might reduce the number of such late diagnoses. Secondary outcome measures included prevalence ratios for associations between selected demographic and clinical factors and late detection of CCHD. RESULTS Of 3746 live-born infants with nonsyndromic CCHD, late detection occurred in 1106 (29.5% [95%CI, 28.1%–31.0%]), including 6 (0.2%) (0.1% –0.4%) first receiving a diagnosis at autopsy more than 3 days after birth. Late detection varied by CCHD type from 9 of 120 infants (7.5%[95%CI, 3.5%–13.8%]) with pulmonary atresia to 497 of 801 (62.0% [58.7%–65.4%]) with coarctation of the aorta. In multivariable analysis, late detection varied significantly by CCHD type and study site, and infants with

  13. Matrix metalloproteinases as candidate biomarkers in adults with congenital heart disease.

    Science.gov (United States)

    Baggen, Vivan J M; Eindhoven, Jannet A; van den Bosch, Annemien E; Witsenburg, Maarten; Cuypers, Judith A A E; Langstraat, Jannette S; Boersma, Eric; Roos-Hesselink, Jolien W

    2016-07-01

    Context Matrix metalloproteinases (MMPs) are associated with diastolic dysfunction and heart failure in acquired heart disease. Objective To investigate the role of MMPs as novel biomarkers in clinically stable adults with congenital heart disease. Methods We measured serum MMP-2, -3, -9 and tissue inhibitor of matrix metalloproteinase-1 in 425 patients and analysed the association with cardiac function and exercise capacity. Results MMP-2 was significantly associated with exercise capacity, ventilatory efficiency and left ventricular deceleration time, independently of age, sex, body surface area and NT-proBNP. Conclusion MMP-2 may provide new information in the clinical evaluation of adults with congenital heart disease.

  14. 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.

  15. 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.

  16. 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.

  17. 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

    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 Ebst

  18. 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.

  19. Vital Signs Changes in Post-Operative Corrective Surgery for Cyanotic and Noncyanotic Congenital Heart Diseases

    Directory of Open Access Journals (Sweden)

    H Amoozegar

    2008-07-01

    Full Text Available Background: Post open cardiac surgery is associated with rises in fever, blood pressure and heart rate. The objective of the present study was to determine the changes in temperature, blood pressure and heart rate in first week after open cardiac surgery of non-complicated cyanotic and noncyanotic congenital heart diseases.Patients and Methods: Temperature, blood pressure and heart rate were obtained from 100 patients with different congenital heart disease after open cardiac surgery. The patients divided in two groups, 40 cyanotic CHD and 60 noncyanotic CHD.Result: Half of patients had fever in first day after surgery. Cyanotic patients became afebrile earlier than noncyanotic group. Cyanotic patients had higher heart rate and lower blood pressure than noncyanotic group.Conclusion: The study suggests that post open heart surgery body temperature, blood pressure and heart rate are different in patients with cyanotic and non cyanotic congenital heart diseases.

  20. Transitioning the young adult with congenital heart disease for life-long medical care.

    Science.gov (United States)

    Fernandes, Susan M; Landzberg, Michael J

    2004-12-01

    Guidelines for the successful orchestration of transitioning of the adolescent and young and older adult patient with congenital heart disease to a health care system appropriate for their long-term congenital heart disease care and counseling appear necessary to improve patient and family confidence, education, therapy, life quality, and survival outcomes. Schema for care organization and delivery for adult patients with congenital heart disease remain primitive and largely unimplemented. The presence of a strong central care oversight organization and the establishment of a multi-institutional database to assist in assessment of care outcomes and guidelines appears requisite to these needs and for the establishment of transitioning guidelines for these patients as they assume a greater and deeper shared control of their futures with their caregivers.

  1. DISTRIBUTION OF CONGENITAL HEART DISEASES AT TERTIARY CARE CENTER: SINGLE CENTER EXPERIENCE

    Directory of Open Access Journals (Sweden)

    Vaishali

    2016-02-01

    Full Text Available BACKGROUND The current study was undertaken at a tertiary care center, Bhopal, MP, India, with the objective of establishing frequency of occurrence of congenital heart diseases by echocardiography. MATERIALS AND METHOD 10,000 consecutive cases undergoing Echo Color Doppler in the Cardiology Department Hamidia Hospital, Bhopal, between 1st Jan 2009 and July 2011 were analysed. Echo CD was performed by consultant cardiologist using Acuson Aspen Color Doppler machine following the ASE guidelines. RESULTS AND CONCLUSIONS In the present study out of 10,000consecutive cases undergoing echo 648 were identified to having congenital heart diseases. Isolated VSD (30.5%, isolated ASD (23.6% PDA (9% and TOF (8.3% were commonest defect observed. Most common congenital heart disease found in the present study is VSD and is most prevalent in males and is highest among 0-5 yrs.

  2. Down syndrome: Molecular mapping of the congenital heart disease and duodenal stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Korenburg, J.R. (University of California, Los Angeles (United States)); Bradley, C.; Disteche, C.M. (University of Washington, Seattle (United States))

    1992-02-01

    Down syndrome (DS) is a major cause of congenital heart and gut disease and mental retardation. DS individuals also have characteristic facies, hands, and dermatoglyphics, in addition to abnormalities of the immune system, and increased risk of leukemia, and an Alzheimer-like dementia. Although their molecular basis is unknown, recent work on patients with DS and partial duplications of chromosome 21 has suggested small chromosomal regions located in band q22 that are likely to contain the genes for some of these features. The authors now extend these analyses to define molecular markers for the congenital heart disease, the duodenal stenosis, and an 'overlap' region for the facial and some of the skeletal features. They report the clinical, cytogenetic, and molecular analysis of two patients. These studies provide the molecular basis for the construction of a DS phenotypic map and focus the search for genes responsible for the physical features, congenital heart disease, and duodenal stenosis of DS.

  3. The present and future of interventional catheterization for congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    @@Over the past decade, the focus of the pediatric catheterization laboratory has changed dramatically from its primary function of providing diagnosis to offering treatment.Since Rashkind first described the technique for atrial septostomy in the setting of complete transposition of the great arteries in 1966, therapeutic catheterization techniques have replaced conventional surgery, including both corrective and palliative surgeries, for many lesions. Interventional catheterization has become an important modality in the treatment of congenital heart disease. In addition, in the staged management of complex congenital heart disease, better outcomes have been acquired by combined surgical and interventional catheterization strategies. Although great advances have been made in the therapeutic catheterization for congenital heart disease in some Chinese medical centers, there is considerable difference in both clinical applications and basic researches between China and other developed countries. Thus, it is very important to expand this advanced technique aggressively but carefully.

  4. Congenital Heart Disease Requiring Maintenance of Ductus Arteriosus in Critically Ill Newborns Admitted at A Tertiary Neonatal Intensive Care Unit

    Directory of Open Access Journals (Sweden)

    Cucerea Manuela

    2016-10-01

    Full Text Available Introduction: Congenital heart diseases (CHD have been reported to be responsible for 30 to 50% of infant mortality caused by congenital disabilities. In critical cases, survival of newborns with CHD depends on the patency of the ductus arteriosus (PDA, for maintaining the systemic or pulmonary circulation. The aim of the study was to assess the efficacy and side effects of PGE (prostaglandin E administration in newborns with critical congenital heart disease requiring maintenance of the ductus arteriosus.

  5. Configural and featural processing in humans with congenital prosopagnosia.

    Science.gov (United States)

    Lobmaier, Janek S; Bölte, Jens; Mast, Fred W; Dobel, Christian

    2010-07-01

    Prosopagnosia describes the failure to recognize faces, a deficiency that can be devastating in social interactions. Cases of acquired prosopagnosia have often been described over the last century. In recent years, more and more cases of congenital prosopagnosia (CP) have been reported. In the present study we tried to determine possible cognitive characteristics of this impairment. We used scrambled and blurred images of faces, houses, and sugar bowls to separate featural processing strategies from configural processing strategies. This served to investigate whether congenital prosopagnosia results from process-specific deficiencies, or whether it is a face-specific impairment. Using a delayed matching paradigm, 6 individuals with CP and 6 matched healthy controls indicated whether an intact test stimulus was the same identity as a previously presented scrambled or blurred cue stimulus. Analyses of d values indicated that congenital prosopagnosia is a face-specific deficit, but that this shortcoming is particularly pronounced for processing configural facial information.

  6. Human Environmental Disease Network

    DEFF Research Database (Denmark)

    Taboureau, Olivier; Audouze, Karine

    2017-01-01

    During the past decades, many epidemiological, toxicological and biological studies have been performed to assess the role of environmental chemicals as potential toxicants for diverse human disorders. However, the relationships between diseases based on chemical exposure have been rarely studied...... by computational biology. We developed a human environmental disease network (EDN) to explore and suggest novel disease-disease and chemical-disease relationships. The presented scored EDN model is built upon the integration on systems biology and chemical toxicology using chemical contaminants information...

  7. Utilization of stem cells to treat congenital heart disease: hype and hope.

    Science.gov (United States)

    Peral, Susana Cantero; Burkhart, Harold M; Nelson, Timothy J

    2014-10-01

    Surgical advances over the past few decades have transformed the clinical management of congenital heart disease, such as hypoplastic left heart syndrome. Congenital heart disease affects more than 1% of liveborn infants and accounts for more than 2.5 million affected children per year worldwide. The cost and availability of complex medical management for these children becomes bluntly realized when heart failure progresses and only palliative options remain. Cell-based cardiac regeneration has been the focus of intensive efforts in adult heart disease for more than a decade and now has promise for pediatrics. Innate cardiac regeneration in the pediatric setting is measurable and potentially modifiable in the early stages of development. Repurposing cell-based manufactured products to promote cardiac regeneration in congenital heart disease has demonstrated significant improvement in cases of dilated cardiomyopathy and structural heart disease in infants. A focus on preemptive cardiac regeneration in the pediatric setting may offer new insights into the timing of surgery, location of cell-based delivery, and type of cell-based regeneration that could further inform acquired cardiac disease applications. The concept of cell-based pediatric cardiac regenerative surgery could transform the management of congenital heart disease when cost-effective strategies produce a valuable adjunctive solution to improve outcomes of cardiac surgery.

  8. Genetic Modifiers Predisposing to Congenital Heart Disease in the Sensitized Down Syndrome Population

    Science.gov (United States)

    Li, Huiqing; Cherry, Sheila; Klinedinst, Donna; DeLeon, Valerie; Redig, Jennifer; Reshey, Benjamin; Chin, Michael T.; Sherman, Stephanie L.; Maslen, Cheryl L.; Reeves, Roger H.

    2012-01-01

    Background About half of people with Down syndrome (DS) exhibit some form of congenital heart disease (CHD). However, trisomy for human chromosome 21 (Hsa21) alone is insufficient to cause CHD as half of all people with DS have a normal heart, suggesting that genetic modifiers interact with dosage sensitive gene(s) on Hsa21 to result in CHD. We hypothesize that a threshold exists in both Down syndrome and euploid populations for the number of genetic perturbations that can be tolerated before CHD results. Methods and Results We ascertained a group of individuals with DS and complete atrioventricular septal defect (AVSD) and sequenced two candidate genes for CHD, CRELD1, which is associated with AVSD in people with or without DS, and HEY2, whose mouse ortholog produces septal defects when mutated. Several deleterious variants were identified but the frequency of these potential modifiers was low. We crossed mice with mutant forms of these potential modifiers to the Ts65Dn mouse model of Down syndrome. Crossing loss-of-function alleles of either Creld1 or Hey2 onto the trisomic background caused a significant increase in the frequency of CHD, demonstrating an interaction between the modifiers and trisomic genes. We showed further that although either of these mutant modifiers is benign by itself, they interact to affect heart development when inherited together. Conclusions Using mouse models of Down syndrome and of genes associated with congenital heart disease we demonstrate a biological basis for an interaction that supports a threshold hypothesis for additive effects of genetic modifiers in the sensitized trisomic population. PMID:22523272

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

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Tae Hoon [Yongdong Severance Hospital, Seoul (Korea, Republic of); Kim, Mi Young; Kim, Yang Min; Lee, Soo Hyun; Kim, Soo Jin; Kim, Woong Han [Sejong General Hospital, Seoul (Korea, Republic of)

    2003-03-15

    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.

  10. Transfer to Adult Care--Experiences of Young Adults with Congenital Heart Disease.

    Science.gov (United States)

    Asp, Ann; Bratt, Ewa-Lena; Bramhagen, Ann-Cathrine

    2015-01-01

    More than 90% of children born with congenital heart disease survive into adulthood due to successes of cardiac surgery and medical management. Interviews with 16 young adults with congenital heart disease to explore their experiences of transfer from pediatric to adult care were performed. The analysis identified five themes; Feeling secure during the transfer process, Experiencing trust in the care, Expecting to be involved, Assuming responsibility for one's health is a process and Lack of knowledge leads to uncertainty. In conclusion; a structured and gradual transfer process was necessary to enable the informants to shoulder the responsibility for self-care.

  11. MR evaluation of cardiovascular physiology in congenital heart disease: flow and function.

    Science.gov (United States)

    Weber, Oliver M; Higgins, Charles B

    2006-01-01

    Cardiovascular magnetic resonance (CMR) has become the method of choice in the evaluation of a number of questions in congenital heart disease. In addition to morphology, modern CMR techniques allow the visualization of function and flow in a temporally resolved manner. Among the pathologies where these methods play a major role are shunts, septal defects, aortic coarctation, anomalies of the pulmonary arteries, and valvular regurgitation. This paper explains the basics of functional and flow encoded CMR and discusses their application in the assessment of several types of congenital heart disease.

  12. 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.

  13. Morbidity After Cardiac Surgery in Patients With Adult Congenital Heart Disease in Comparison With Acquired Disease.

    Science.gov (United States)

    Karangelis, Dimos; Mazine, Amine; Narsupalli, Sreekanth; Mendis, Shamarli; Veldtman, Gruschen; Nikolaidis, Nicolas

    2017-06-28

    Due to the advancements in congenital cardiac surgery and interventional cardiology in the last five decades, more than 85% of congenital heart patients now survive to adulthood. This retrospective study included 135 Adult Congenital Heart Disease (ACHD) patients, who had cardiac surgery at Southampton General Hospital over three consecutive years. We also included 42 patients with a structurally normal heart who had cardiac surgery for acquired cardiac conditions as a control group. Preoperative, intraoperative and postoperative data were analysed in both groups to identify risk factors for morbidity and mortality. In the ACHD group, in hospital mortality was 0.7%. In the control group no deaths were observed. Fifty-eight per cent of the ACHD patients had significantly higher perioperative morbidity with arrhythmias (26%), bleeding (3%), prolonged ventilation (11.3%) and renal replacement therapy 1.5%. In the non ACHD control group 32% (p=0.003) developed perioperative complications with arrhythmias (9.8%), bleeding (2.5%), prolonged ventilation (4.3%) and renal replacement therapy (2.5%). In ACHD patients total in-hospital stay was longer in patients with longer cardiopulmonary bypass (CPB) time (p=0.005), aortic cross clamp time (p=0.013) and higher preoperative alkaline phosphatase level (p=0.005). Early postoperative complications were higher in ACHD patients with longer cardiopulmonary bypass time (p=0.04) and presence of pulmonary artery hypertension (p=0.012). Even though the preoperative and operative characteristics are similar to both groups, the morbidity is more in ACHD group. Longer CBP time, aortic cross clamp time and presence of pulmonary hypertension are risk factors for higher morbidity in this group. Copyright © 2017 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

  14. Elevated NCX1 and NCKX4 expression in the patent postnatal ductus arteriosus of ductal-dependent congenital heart disease patients.

    Science.gov (United States)

    Hong, Haifa; Xia, Yu; Sun, Yanjun; Ye, Lincai; Liu, Jinfen; Bai, Jie; Zhang, Haibo

    2015-04-01

    Patency of the ductus arteriosus (DA) after birth is essential in ductal-dependent congenital heart disease. The Na(+)/Ca(2+) exchanger (NCX) has been demonstrated to play a key role in regulating vascular tone. The potassium-dependent Na(+)/Ca(2+) exchanger (NCKX) is a related family of NCX depending on the K(+) gradients which triggers DA constriction. The present study investigated the comparative expression of NCX and NCKX between a constricted DA and patent DA in human ductal-dependant congenital heart disease. Human DAs, which were patent (n = 10, age = 20.2 ± 4.3 days) or constricted (n = 10, age = 18.3 ± 3.9 days), were excised during surgery from neonates with ductal-dependent congenital heart disease. Western blotting analysis, real-time quantitative polymerase chain reaction analysis and immunofluorescence studies were performed to detect the protein and mRNA levels of NCX1, NCKX3, and NCKX4. The expressions of NCX1 and NCKX4 were significantly higher in the patent DA group at both the protein and mRNA levels, and expression was localized to the smooth muscle layer. These findings indicate that NCX1 and NCKX4 are up-regulated in human postnatal patent DAs and may represent potential therapeutic targets for maintaining DA patency in ductal-dependent congenital heart disease.

  15. 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

  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 (Sparacino, 19

  17. 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 (Sparacino, 19

  18. 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.

  19. 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 ...... 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.......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...

  20. 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.

  1. FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease.

    Science.gov (United States)

    Laux, Daniela; Malan, Valérie; Bajolle, Fanny; Boudjemline, Younes; Amiel, Jeanne; Bonnet, Damien

    2013-10-01

    The objective was to report two new patients with the diagnosis of alveolar capillary dysplasia and congenital heart disease, to describe the associated cardiac defects seen in these cases and in the literature, and to consider recent genetic advances concerning the FOX transcription factor gene cluster in chromosome 16q24.1q24.2. We retrospectively analysed the records of all patients with congenital heart disease and alveolar capillary dysplasia seen in the Pediatric Cardiology Department between 2005 and 2010. We reviewed all literature published in the English language relating to cases of alveolar capillary dysplasia and congenital heart disease. Two infants with alveolar capillary dysplasia and cardiac malformation were identified: one had an atrioventricular septal defect and a de novo balanced reciprocal translocation t(1;16)(q32;q24), the second infant had a ventricular septal defect. Analysis of 31 cases of the literature including these new cases showed a predominant association of alveolar capillary dysplasia with obstructive left heart disease (35%), as well as an atrioventricular septal defect (29%). FOX gene cluster defects were identified in eight of these patients. Genetic background of alveolar capillary dysplasia is discussed in the light of the balanced reciprocal translocation t(1;16)(q32;q24) identified in the first child of this report. Alveolar capillary dysplasia should be suspected in neonates with congenital heart disease and unexpectedly elevated pulmonary vascular resistances, especially in cases of obstructive left heart disease or atrioventricular septal defect. Detecting FOX gene cluster defects should be considered in infants with alveolar capillary dysplasia with or without congenital heart disease.

  2. The impact of illness perceptions and disease severity on quality of life in congenital heart disease.

    Science.gov (United States)

    O'Donovan, Claire E; Painter, Liz; Lowe, Boris; Robinson, Hayley; Broadbent, Elizabeth

    2016-01-01

    Despite an increasing prevalence of adults living with a CHD, little is known about the psychosocial impact of CHD. We sought to investigate the relative impact of disease severity and patients' perceptions about their condition on depression, anxiety, and quality of life over a period of a year. A total of 110 patients aged over 16 years completed an initial questionnaire containing measures for anxiety, depression, quality of life, and illness perceptions when they attended the Adult Congenital Heart Disease Clinic. Cardiologists rated the patients' disease severity and illness course. A year later, patients were invited to complete the same measures. Regression analyses were performed to determine the relative impact of illness perceptions and disease severity on psychological outcomes a year later. At baseline, 23% of the study population had depressive symptoms and 30% had elevated trait anxiety. After controlling for associations with disease-related variables, illness perceptions explained 28% of the variance in depression, 40% anxiety, and 27% overall quality of life at baseline. Baseline illness perceptions bivariately predicted quality of life, cardiac anxiety, and depression 1 year later, and regression analyses controlling for other factors showed that they were significant predictors of outcomes 1 year later. Symptoms of depression and anxiety are common among adults with CHD. Patients' illness perceptions are related to psychological outcomes, especially cross-sectionally. Future research could investigate whether an intervention to discuss patients' perceptions about their CHD can improve mental health and quality of life.

  3. Association between SNP rs10569304 on the Second Expressed Region of Hole Gene and the Congenital Heart Disease

    Institute of Scientific and Technical Information of China (English)

    张亚莉; 徐琳; 邱健; 李志梁; 李林海; 任广立; 董爱荣; 李炳玲; 葛明晓; 蒙仕仁; 王剑青

    2010-01-01

    The correlation of single nucleotide polymorphism (SNP) rs10569304 on the second expressed region of hole gene and congenital heart disease (CHD) of human being, and the effect of hole gene on CHD were investigated. 179 patients with CHD as CHD group and 183 healthy people as control group were selected in the case-control study. DNA was abstracted from the peripheral blood by phenol-chloroform method. Primer was designed for the flanking sequence of SNP rs10569304 on the second expressed region of hole gen...

  4. Configural and featural processing in humans with congenital prosopagnosia.

    OpenAIRE

    Lobmaier, Janek S.; Bölte, Jens; Mast, Fred W.; Dobel, Christian

    2010-01-01

    Prosopagnosia describes the failure to recognize faces, a deficiency that can be devastating in social interactions. Cases of acquired prosopagnosia have often been described over the last century. In recent years, more and more cases of congenital prosopagnosia (CP) have been reported. In the present study we tried to determine possible cognitive characteristics of this impairment. We used scrambled and blurred images of faces, houses, and sugar bowls to separate featural processing strategi...

  5. 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

  6. 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)

  7. Pulmonary arterial hypertension in congenital heart disease : An epidemiologic perspective from a Dutch registry

    NARCIS (Netherlands)

    Duffels, M. G. J.; Engelfriet, P. M.; Berger, R. M. F.; van Loon, R. L. E.; Hoendermis, E.; Vriend, J. W. J.; Bresser, P.; Mulder, B. J. M.; van der Velde, Enno T.

    2007-01-01

    Background: Pulmonary arterial hypertension (PAH) associated with congenital heart disease is usually the result of a large systemic-topulmonary shunt, and often leads to right ventricular failure and early death. The purpose of this study was to determine the prevalence of PAH among adult patients

  8. Outcome of implantable cardioverter defibrillators in adults with congenital heart disease : a multi-centre study

    NARCIS (Netherlands)

    Yap, Sing-Chien; Roos-Hesselink, Jolien W.; Hoendermis, Elke S.; Budts, Werner; Vliegen, Hubert W.; Mulder, Barbara J. M.; van Dijk, Arie P. J.; Schalij, Martin J.; Drenthen, Willem

    2007-01-01

    Aims To investigate outcome and complications of implantable cardioverter defibrillators (ICDs) in adults with congenital heart disease (CHD) and to identify predictors of (in-) appropriate shocks. Methods and results Sixty-four CHD patients >= 18 years at first ICD implantation [63% tetralogy of Fa

  9. Amplitude integrated electroencephalographic activity in infants with congenital heart disease before surgery

    NARCIS (Netherlands)

    ter Horst, H-J.; Mud, M.; Roofthooft, M. T. R.; Bos, A. F.

    2010-01-01

    Background: Infants with congenital heart disease (CHD) are at risk for brain injury. An accurate tool to monitor brain function is amplitude integrated EEG (aEEG). It records both background patterns and electrographic seizure activity (EA). Aims: Our aim was to determine aEEG patterns in infants w

  10. 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.; Berger, Rudolphus

    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 consen

  11. Outcome of pregnancy in women with congenital heart disease - A literature review

    NARCIS (Netherlands)

    Drenthen, Willem; Pieper, Petronella G.; Roos-Hesselink, Jolien W.; van Lottum, Willem A.; Voors, Adriaan A.; Mulder, Barbara J. M.; van Dijk, Arie P. J.; Vliegen, Hubert W.; Yap, Sing C.; Moons, Philip; Ebels, Tjark; van Veldhuisen, Dirk J.

    2007-01-01

    A search of peer-reviewed literature was conducted to identify reports that provide data on complications associated with pregnancy in women with structural congenital heart disease (CHD). This review describes the outcome of 2,491 pregnancies, including 377 miscarriages (15%) and 114 elective abort

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

    NARCIS (Netherlands)

    Riel, A.C. van; Schuuring, M.J.; Hessen, I.D. van; Zwinderman, A.H.; Cozijnsen, L.; Reichert, C.L.; Hoorntje, J.C.A.; Wagenaar, L.J.; Post, M.C.; Dijk, A.P.J. van; Hoendermis, E.S.; Mulder, B.J.; Bouma, B.J.

    2014-01-01

    BACKGROUND: 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 investigat

  13. 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 car

  14. 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 henc

  15. Remifentanil infusion for cardiac catheterization in children with congenital heart disease

    NARCIS (Netherlands)

    Foubert, L; Reyntjens, K; De Wolf, D; Suys, B; Moerman, A; Mortier, E

    2002-01-01

    BACKGROUND: Cardiac catheterization of children with congenital heart disease is increasingly being performed under general anesthesia. Haemodynamic stability during anesthesia and fast and adequate recovery after the procedure is crucial in these patients. We performed a pilot study to evaluate hem

  16. 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…

  17. 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…

  18. 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...

  19. 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 ...

  20. 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...

  1. Physical Activity and Sport Participation in Youth with Congenital Heart Disease: Perceptions of Children and Parents

    Science.gov (United States)

    Moola, Fiona; Faulkner, Guy E. J.; Kirsh, Joel A.; Kilburn, Jennifer

    2008-01-01

    This study explored perceptions toward physical activity and sport in the lives of youth with congenital heart disease. Thirteen cardiac participants were interviewed in the presence of their parents, and a process of inductive analysis was conducted. Sport was not considered a valued pursuit despite the belief that it is essential for the…

  2. Long-Term Prostaglandin E1 Infusion for Newborns with Critical Congenital Heart Disease.

    Science.gov (United States)

    Aykanat, Alper; Yavuz, Taner; Özalkaya, Elif; Topçuoğlu, Sevilay; Ovalı, Fahri; Karatekin, Güner

    2016-01-01

    Prostaglandin E1 is crucial for keeping the patent ductus arteriosus in critical congenital heart disease for the survival and palliation of particularly prematurely born babies until a cardiosurgical intervention is available. In this study, the side effects of prostaglandin E1 in newborns with critical congenital heart disease and clinical outcomes were evaluated. Thirty-five newborns diagnosed with critical congenital heart disease were treated with prostaglandin E1 between January 2012 and September 2014 at our hospital. Patient charts were examined for prostaglandin E1 side effects (metabolic, gastric outlet obstruction, apnea), clinical status, and prognosis. Acquired data were analyzed in the SPSS 20.0 program. Patients with birth weight under 2500 g needed more days of prostaglandin E1 infusion than ones with birthweight over 2500 g (P = 0.016). The ratio of patients with birth weight under 2500 g who received prostaglandin E1 longer than 7 days was higher than the patients with birth weight over 2500 g (P = 0.02). Eighteen side effects were encountered in 11 of 35 patients (31%). Of these side effects, 1 patient had 4, 4 patients had 2, and 6 patients had only 1 side effect. Discontinuation of the therapy was never needed. Prostaglandin E1 is an accepted therapy modality for survival and outcome in critical congenital heart disease in particularly low-birth-weight babies until a surgical intervention is available. Side effects are not less encountered but are almost always manageable, and discontinuation is not needed.

  3. The haematocrit - an important factor causing impaired haemostasis in patients with cyanotic congenital heart disease

    DEFF Research Database (Denmark)

    Jensen, A S; Johansson, P I; Idorn, L;

    2013-01-01

    BACKGROUND: Patients with cyanotic congenital heart disease(CCHD) have haemostatic abnormalities, which result in an increased risk of bleeding. The cause is unknown, but recent studies have indicated that an elevated haematocrit, which is present in cyanotic patients, could be an important factor...

  4. Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.

    OpenAIRE

    1988-01-01

    We report a sibship of two brothers and one sister with the osteoporosis-pseudoglioma syndrome and congenital heart disease. They presented in infancy with visual impairment and psychomotor retardation. Major features included bilateral cataracts, generalised osteopenia, severe platyspondyly, borderline mental retardation, muscular hypotonia, joint laxity, and ventricular septal defect. Parental consanguinity and affected sibs of both sexes strongly suggested autosomal recessive inheritance. ...

  5. Clinical classification in pediatric pulmonary arterial hypertension associated with congenital heart disease

    NARCIS (Netherlands)

    Zijlstra, Willemijn M H; Douwes, Johannes M; Ploegstra, Mark-Jan; Krishnan, Usha; Roofthooft, Marcel; Hillege, Hans L; Ivy, D Dunbar; Rosenzweig, Erika B; Berger, Rolf M F

    2016-01-01

    Congenital heart disease (CHD) is a frequent cause of pediatric pulmonary arterial hypertension (PAH), with diverse etiology and outcome. We aimed to describe phenotypic heterogeneity in pediatric PAH associated with CHD (PAH-CHD), assess the applicability of the Nice CHD classification, and explore

  6. 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

  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.; Berger, Rudolphus

    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. Efficacy of Antiarrhythmic Drugs in Adults With Congenital Heart Disease and Supraventricular Tachycardias

    NARCIS (Netherlands)

    Koyak, Zeliha; Kroon, Bart; de Groot, Joris R.; Wagenaar, Lodewijk J.; van Dijk, Arie P.; Mulder, Bart A.; Van Gelder, Isabelle C.; Post, Marco C.; Mulder, Barbara J. M.; Bouma, Berto J.

    2013-01-01

    Supraventricular tachycardias (SVTs) are a major cause of morbidity in adults with congenital heart disease (CHD). Few data exist on safety and efficacy of antiarrhythmic drugs in this population. Our aim was to determine the efficacy of antiarrhythmic drugs in adults with CHD and first-onset SVT on

  10. Are Grown-ups with Congenital Heart Disease Willing to Participate in an Exercise Program?

    NARCIS (Netherlands)

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

    2014-01-01

    ObjectiveTo 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. Design and SettingIn this cr

  11. Complications of pacemaker therapy in adults with congenital heart disease: A multicenter study

    NARCIS (Netherlands)

    Opic, P.; Kranenburg, M. van; Yap, S.C.; Dijk, A.P.J. van; Budts, W.; Vliegen, H.W.; Erven, L. van; Can, A.; Sahin, G.; Theuns, D.A.; Witsenburg, M.; Roos-Hesselink, J.W.

    2013-01-01

    BACKGROUND: This study aims to investigate indications and complications of permanent cardiac pacing in adults with congenital heart disease (CHD). METHODS AND RESULTS: Two-hundred and seventy-four CHD patients were identified who underwent permanent pacemaker implantation between 1972 and 2009. The

  12. 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 consen

  13. Problems of the neonates with congenital heart disease requiring early interventions: a regional report

    Science.gov (United States)

    Çelik, Muhittin; Aldudak, Bedri; Akar, Melek; Akdeniz, Osman; Tüzün, Heybet; Çelebi, Vefik

    2015-01-01

    Aim: In this study, it was aimed to determine the problems of the neonates who were diagnosed with congenital heart disease requiring early intervention in our hospital. Material and Methods: The files of the newborn babies with congenital heart disease requiring early intervention who were admitted to the neonatal intensive care unit of our hospital between January 2011 and January 2013 were evaluated retrospectively. In all cases, echocardiography and ‘’Score for Neonatal Acute Physiology-II” (SNAP-II) scoring were performed within the first day of admission. The data were interpreted using Number Cruncher Statistical System 2007 software. The statistical significance was set at palprostadil and age were not related to mortality. Three patients were discharged following planning of elective surgery and 60 patients were referred to a tertiary center by air ambulance. Conclusions: The results of our study indicated that prenatal diagnosis could not be made in neonates with congenital heart disease requiring intervention in our region. The mortality rates of these patients were related to the severity of the clinical status at presentation rather than to the age, gender and type of congenital heart disease. The mortality was much higher in the patients who developed circulatory failure. Most of the patients who survived were sent by air ambulance to the centers where the intervention was to be performed. PMID:26568691

  14. Acute Kidney Injury and Fluid Overload in Neonates Following Surgery for Congenital Heart Disease.

    Science.gov (United States)

    Piggott, Kurt D; Soni, Meshal; Decampli, William M; Ramirez, Jorge A; Holbein, Dianna; Fakioglu, Harun; Blanco, Carlos J; Pourmoghadam, Kamal K

    2015-07-01

    Acute kidney injury (AKI) and fluid overload have been shown to increase morbidity and mortality. The reported incidence of AKI in pediatric patients following surgery for congenital heart disease is between 15% and 59%. Limited data exist looking at risk factors and outcomes of AKI or fluid overload in neonates undergoing surgery for congenital heart disease. Neonates aged 6 to 29 days who underwent surgery for congenital heart disease and who were without preoperative kidney disease were included in the study. The AKI was determined utilizing the Acute Kidney Injury Network criteria. Ninety-five neonates were included in the study. The incidence of neonatal AKI was 45% (n = 43), of which 86% had stage 1 AKI. Risk factors for AKI included cardiopulmonary bypass time, selective cerebral perfusion, preoperative aminoglycoside use, small kidneys by renal ultrasound, and risk adjustment for congenital heart surgery category. There were eight mortalities (five from stage 1 AKI group, three from stage 2, and zero from stage 3). Fluid overload and AKI both increased hospital length of stay and postoperative ventilator days. To avoid increased risk of morbidity and possibly mortality, every attempt should be made to identify and intervene on those risk factors, which may be modifiable or identifiable preoperatively, such as small kidneys by renal ultrasound. © The Author(s) 2015.

  15. Mortality in adult congenital heart disease : Are national registries reliable for cause of death?

    NARCIS (Netherlands)

    Zomer, A. Carla; Uiterwaal, Cuno S. P. M.; van der Velde, Enno T.; Tijssen, Jan G. P.; Mariman, Edwin C. M.; Verheugt, Carianne L.; Vaartjes, Ilonca; Pieper, Petronella G.; Meijboom, Folkert J.; Grobbee, Diederick E.; Mulder, Barbara J. M.

    2011-01-01

    Background: Statistics on cause-specific mortality are important for prognostic research. The aim of this study was to assess the utility of the national mortality registry in research on causes of death in adult patients with congenital heart disease (CHD). Methods: The CONCOR registry of over

  16. Evaluation of Neurodevelopment and Factors Affecting it in Children With Acyanotic Congenital Cardiac Disease

    Directory of Open Access Journals (Sweden)

    Ayten Ozmen

    2016-01-01

    Full Text Available Background: The rate of congenital heart disease is 0.8% in all live births. The majority of this, however, is acyanotic congenital heart disease. The survival rate of children with cardiac disease has increased with the developments provided in recent years and their lifetime is extended. Objectives: This study aims to evaluate neurodevelopment of children with uncomplicated acyanotic congenital heart disease in preschool period and determine the factors affecting their neurodevelopmental process. Patients and Methods: 132 children with acyanotic congenital heart disease aged 6 - 72 months were involved in the study. Mental development and intelligence levels of patients under 2 years old were assessed by using Bayley Development Scale-III, and Stanford Binet Intelligence test was employed for patients over 2 years old. Denver Developmental Screening Test II was applied to all patients for their personal-social, fine motor, gross motor and language development. Results: The average age of patients (67 girls, 65 boys included in the study was 35.2 ± 19.6 months. It was determined that there were subnormal mental level in 13 (10% patients and at least one specific developmental disorder in 33 (25% patients. Bayley Mental Development Scale score of patients who had received incubator care in perinatal period was found significantly low (88 ± 4.2 compared to those with no incubator care (93.17 ± 8.5 (P = 0.028. Low educational level of father was established to be linked with low mental development scores at the age of 2 and following that age (P < 0.05. Iron deficiency anemia was discovered to be related to low psychometric test scores at every age (P < 0.05. Conclusions: Neurodevelopmental problems in children with acyanotic congenital heart disease were found higher compared to those in society. Mental development and intelligence levels of patients were determined to be closely associated with receiving incubator care, father’s educational

  17. 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

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

    Energy Technology Data Exchange (ETDEWEB)

    Trunova, V.A. [A.V. Nikolaev Institute of Inorganic Chemistry, SB RAS, 630090 Novosibirsk, Lavrentyeva 3 (Russian Federation)]. E-mail: Trunova@inp.nsk.su; Zvereva, V.V. [A.V. Nikolaev Institute of Inorganic Chemistry, SB RAS, 630090 Novosibirsk, Lavrentyeva 3 (Russian Federation); Okuneva, G.N. [E.N. Meshalkin Institute of Pathology of Circulation of the Blood, 630055 Novosibirsk, Rechkunovskaja 15 (Russian Federation); Levicheva, E.N. [E.N. Meshalkin Institute of Pathology of Circulation of the Blood, 630055 Novosibirsk, Rechkunovskaja 15 (Russian Federation)

    2007-05-21

    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.

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

    Science.gov (United States)

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

    2007-05-01

    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.

  20. 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.

  1. Congenital Heart Disease in an Infant with 49,XXXXY Syndrome

    Directory of Open Access Journals (Sweden)

    Mustafa Argun

    2015-04-01

    Full Text Available 49,XXXXY syndrome which is characterized with the addition of three extra X chromosomes to 46,XY is the rarest sex chromosome aneuploidy syndrome. Its classical findings were defined as a triad of mental retardation, hypogonadism and radioulnar synostosis. In 49,XXXXY syndrome, congenital heart defects like patent ductus arteriosus, atrial septal defect, ventricular septal defect, pulmonary stenosis, Fallot’s tetralogy have been reported. We present a case diagnosed in the newborn stage with low birth weight, short stature, dysmorphic craniofacial findings and hypoplastic male genitalia who was found to have severe pulmonary hypertension and medium patent ductus arteriosus when admitted at 4 months of age with heart failure and who underwent transcathater ductus closure with Amplatzer Duct Occluder I. To our knowledge, our case is the first reported 49,XXXXY syndrome with patent ductus arteriosus closed with the transcathater route.

  2. Sleep-Disordered Breathing in Patients with Pulmonary Valve Incompetence Complicating Congenital Heart Disease.

    Science.gov (United States)

    Miles, Susan; Ahmad, Waheed; Bailey, Amy; Hatton, Rachael; Boyle, Andrew; Collins, Nicholas

    2016-12-01

    Long standing pulmonary regurgitation results in deleterious effects on right heart size and function with late consequences of right heart volume overload including ventricular dilatation, propensity to arrhythmia and right heart failure. As sleep disordered breathing may predispose to elevations in pulmonary vascular resistance and associated negative effects on right ventricular function, we sought to assess this in patients with underlying congenital heart disease. We performed a pilot study to evaluate the incidence of sleep-disordered breathing in a patient population with a history of long standing pulmonary valve incompetence in patients with congenital heart disease using overnight oximetry. Patients with a background of tetralogy of Fallot repair or residual pulmonary incompetence following previous pulmonary valve intervention for congenital pulmonary stenosis were included. Twenty-two patients underwent overnight oximetry. The mean age of the cohort was 34.3 ± 15.2 years with no patients observed to have severe underlying pulmonary hypertension. Abnormal overnight oximetry was seen in 13/22 patients (59.1%) with 2/22 (9.1%) patients considered to have severe abnormalities. An important proportion of patients with a background of pulmonary incompetence complicating congenital heart disease are prone to the development of sleep-disordered breathing as assessed by overnight oximetry. Further study into the prevalence and mechanisms of sleep-disordered breathing in a larger cohort are warranted. © 2016 Wiley Periodicals, Inc.

  3. Recent advances in congenital heart disease genomics [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Anna Wilsdon

    2017-06-01

    Full Text Available Congenital heart disease is the most common congenital abnormality, and advances in medical care mean that this population of individuals is surviving for longer than ever before. It represents a significant healthcare challenge, as many patients require life-long care and individuals may ask about the likelihood of their children being affected. Whilst a number of genes have been identified previously from investigation of families with Mendelian inheritance patterns, sequencing the DNA from large cohorts of individuals with congenital heart disease is now providing fresh insights into the genetics of these conditions. This research has enabled novel gene discovery and uncovered the different genetic mechanisms underlying both isolated congenital heart disease and that which occurs in association with other medical problems. This article discusses the most recent advances in this field and the implications for patient care. In addition, we consider the challenges facing researchers in this field and emphasise the need for close working relationships between clinicians and researchers.

  4. Contraceptive Use and Unintended Pregnancy in Women With Congenital Heart Disease.

    Science.gov (United States)

    Lindley, Kathryn J; Madden, Tessa; Cahill, Alison G; Ludbrook, Philip A; Billadello, Joseph J

    2015-08-01

    To identify patterns of contraceptive use and pregnancy in an academic adult congenital cardiology practice. In this cross-sectional study, from October 2013 through March 2014, 100 women with congenital heart disease aged 18-45 years were recruited from an academic congenital heart disease clinic and administered a survey regarding pregnancy history, contraception use, and understanding of pregnancy-related and contraceptive-related risk. The primary outcome was current use of long-acting reversible contraception, including intrauterine devices or subdermal implants. Of 83 sexually active women, 63 (75.9%, 95% confidence interval [CI] 65.3-85.1) reported currently using any contraceptive method, including 30 of 83 (36.1%, 95% CI 25.9-47.4) using tier I methods (typical-use failure rates of less than 1% per year) and 20 of 83 (24.1%, 95% CI 15.4-34.7) using tier II methods (typical-use failure rates of 6-12% per year). Nine of 83 (10.8%, 95% CI 5.1-19.6) reported currently using long-acting reversible contraception. Sixty-four of 141 total pregnancies (45.4%, 95% CI 31.9-58.9) were self-reported by participants as "unexpected" rather than "planned." Only one (1.6%, 95% CI 0-4.6) of the 64 unintended pregnancies occurred when the woman was using a tier I method of contraception at the time of conception. Most women with congenital heart disease of childbearing age are sexually active. The high incidence of unintended pregnancy in this group may be related to underuse of highly effective methods of contraception. Specific counseling on tier I methods may reduce unintended pregnancies in women with congenital heart disease. III.

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

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    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

  6. Retroviruses and human disease.

    OpenAIRE

    1987-01-01

    Over the past 25 years animal retroviruses have been favoured subjects of research by virologists, oncologists, and molecular biologists. Retroviruses have given us reverse transcriptase, oncogenes, and cloning vectors that may one day be exploited for human gene therapy. They have also given us leukaemia and the acquired immune deficiency syndrome (AIDS). Kawasaki disease and tropical spastic paraparesis are thought to be associated with retrovirus infection, and other diseases such as de Qu...

  7. Clinical utility of ductus venosus flow in fetuses with right-sided congenital heart disease.

    Science.gov (United States)

    Arya, Bhawna; Krishnan, Anita; Donofrio, Mary T

    2014-09-01

    Abnormal ductus venosus flow is associated with fetal compromise and can be present in right-sided congenital heart disease. We hypothesized that the ductus venosus flow pattern in fetuses with obstructive right-sided congenital heart disease will have abnormal flow at baseline. Those with nonobstructive disease will have normal flow at baseline. We further hypothesized that abnormal ductus venosus flow will predict fetal compromise. We conducted a retrospective review of fetuses with right-sided congenital heart disease. Ductus venosus measurements included the presence of atrial reversal, velocity time integral, and peak velocity index. Fetuses were separated into those with obstructive (group 1) and nonobstructive (group 2) lesions. Compromise was defined as fetal distress (pericardial effusion, hydrops, or left ventricular dilatation/dysfunction) or death (fetal/neonatal mortality). Sixty fetuses with right-sided congenital heart disease were identified (mean gestational age ± SD, 24.2 ± 5.4 weeks; group 1, n = 45; group 2, n = 15). Ductus venosus reversal was more often present (49% versus 13%; P = .017), and the peak velocity index was significantly higher (1.39 ± 0.67 versus 0.98 ± 0.33; P= .026) in group 1. In group 1, ductus venosus reversal was more often present (93% versus 32%; P heart disease have ductus venosus reversal at baseline; an abnormal peak velocity index can be used to predict compromise. Fetuses with nonobstructive disease rarely have ductus venosus reversal; the peak velocity index cannot be used to predict outcomes in this group. © 2014 by the American Institute of Ultrasound in Medicine.

  8. Congenital prosopagnosia--a common hereditary cognitive dysfunction in humans.

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    Kennerknecht, Ingo; Pluempe, Nina; Welling, Brigitte

    2008-01-01

    The apparent selectivity of agnosia for faces is termed prosopagnosia or face blindness. This cognitive dysfunction can be seen after traumatic events--involving at least the right occipital temporal region--or very frequently congenital in the absence of any detectable lesions. The familiarity of congenital prosopagnosia was studied in two independently ascertained collections of subjects with prosopagnosia. One was an unselected group of pupils and students who underwent a questionnaire based screening. The others were self reported subjects after having heard for the first time about the phenomenon of prosopagnosia from mass media citing our studies and/or from our homepage (www.prosopagnosia.de). Those who agreed with consecutive studies of their family members had mostly one or more prosopagnosic first degree relatives. The segregation patterns derived from 39 families are compatible with autosomal dominant inheritance. Hence, mutation(s) in one gene are sufficient for manifestation of the phenotype. Still fitting the concept of autosomal dominant inheritance, we have evidence for a slightly reduced penetrance (4 normal transmitters from distinct families) and one or two de novo mutations.

  9. Epidemiology of adult congenital heart disease: demographic variations worldwide.

    Science.gov (United States)

    Mulder, B J M

    2012-12-01

    The population of adults with a congenital heart defect (CHD) is increasing, due to improved survival after cardiac surgery. To accommodate the specialised care for these patients, a profound interest in the epidemiology of CHD is required. The exact size of the current population of adults with CHD is unknown, but the best available evidence suggests that currently overall prevalence of CHD in the adult population is about 3000 per million. Regional differences in CHD prevalence have been described, due to both variations in incidence and in mortality. Knowledge of demographic variations of CHD may lead to new aetiological insights and may be useful for preventive therapies. Socioeconomic status, education, urbanisation, climatological factors, ethnicity and patient-related factors, such as comorbidity, lifestyle and healthcare-seeking behaviour, may play a role in CHD incidence and mortality. The higher risk of several major cardiac outcomes in males with CHD might well explain at least partly the increased mortality rate in men. Regional differences in quality of life among CHD patients have been reported and although methodological differences may play a role, sociocultural differences warrant further attention. Socioeconomic outcomes in CHD patients, such as lower education, more unemployment and less relationships, might have a different impact on quality of life in different cultures. To gain more insight into demographic differences around the world large international multicentre studies on the epidemiology of CHD are needed.

  10. Clinical and molecular characterisation of human syndromes with congenital patellar malformations

    NARCIS (Netherlands)

    Bongers, M.H.F.

    2006-01-01

    In this thesis the results are described of clinical and molecular investigation of human syndromes with congenital patellar malformations as a hallmark feature, with emphasis on nail patella syndrome, small patella syndrome, isolated patellar aplasia or hypoplasia, and Meier-Gorlin syndrome. The el

  11. Clinical and molecular characterisation of human syndromes with congenital patellar malformations

    NARCIS (Netherlands)

    Bongers, M.H.F.

    2006-01-01

    In this thesis the results are described of clinical and molecular investigation of human syndromes with congenital patellar malformations as a hallmark feature, with emphasis on nail patella syndrome, small patella syndrome, isolated patellar aplasia or hypoplasia, and Meier-Gorlin syndrome. The

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

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    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.

  13. Case Report: Emergency awake craniotomy for cerebral abscess in a patient with unrepaired cyanotic congenital heart disease

    Science.gov (United States)

    Fassl, Jens; Tobler, Daniel; Zumofen, Daniel; Steiner, Luzius A.; Goettel, Nicolai

    2017-01-01

    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. PMID:27928498

  14. Methylmercury level in umbilical cords from patients with congenital Minamata disease.

    Science.gov (United States)

    Harada, M; Akagi, H; Tsuda, T; Kizaki, T; Ohno, H

    1999-08-30

    A total of 151 umbilical cords during the period from 1950 to 1969 were collected from the residents of the Minamata area (including 25 patients with congenital Minamata disease) for methylmercury (MeHg) analysis. When the MeHg discharge from the Chisso Company's Minamata factory into the Minamata Bay is compared with the incidence of congenital Minamata disease, the abrupt increase of the former in 1952 [Nishimura H. Chem. Today 1998;323:60-66] was found to precede that of the latter by approximately 2 years, thereby indicating that MeHg is the cause of the disaster. This was confirmed by the elevated levels of MeHg in the umbilical cords from residents of the Minamata area [from 0.35 +/- 0.30 (S.D.) ppm in 1952 to 0.96 +/- 0.75 ppm in 1955], the MeHg levels (1.60 +/- 1.00 ppm) in the cords from patients with congenital Minamata disease showing the highest values [P Minamata disease (0.72 +/- 0.65 ppm), mental retardation (0.74 +/- 0.64 ppm), other diseases (0.22 +/- 0.15 ppm), and no symptoms (0.28 +/- 0.20 ppm), respectively]. Thus, in order to fill a gap, which extends over a long period of time, in studies on environmental Hg pollution, umbilical cord samples were considered to be a useful tool.

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

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    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.

  16. Synaptic roles for phosphomannomutase type 2 in a new Drosophila congenital disorder of glycosylation disease model

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    William M. Parkinson

    2016-05-01

    Full Text Available Congenital disorders of glycosylation (CDGs constitute a rapidly growing family of human diseases resulting from heritable mutations in genes driving the production and modification of glycoproteins. The resulting symptomatic hypoglycosylation causes multisystemic defects that include severe neurological impairments, revealing a particularly critical requirement for tightly regulated glycosylation in the nervous system. The most common CDG, CDG-Ia (PMM2-CDG, arises from phosphomannomutase type 2 (PMM2 mutations. Here, we report the generation and characterization of the first Drosophila CDG-Ia model. CRISPR-generated pmm2-null Drosophila mutants display severely disrupted glycosylation and early lethality, whereas RNAi-targeted knockdown of neuronal PMM2 results in a strong shift in the abundance of pauci-mannose glycan, progressive incoordination and later lethality, closely paralleling human CDG-Ia symptoms of shortened lifespan, movement impairments and defective neural development. Analyses of the well-characterized Drosophila neuromuscular junction (NMJ reveal synaptic glycosylation loss accompanied by defects in both structural architecture and functional neurotransmission. NMJ synaptogenesis is driven by intercellular signals that traverse an extracellular synaptomatrix and are co-regulated by glycosylation and matrix metalloproteinases (MMPs. Specifically, trans-synaptic signaling by the Wnt protein Wingless (Wg depends on the heparan sulfate proteoglycan (HSPG co-receptor Dally-like protein (Dlp, which is regulated by synaptic MMP activity. Loss of synaptic MMP2, Wg ligand, Dlp co-receptor and downstream trans-synaptic signaling occurs with PMM2 knockdown. Taken together, this Drosophila CDG disease model provides a new avenue for the dissection of cellular and molecular mechanisms underlying neurological impairments and is a means by which to discover and test novel therapeutic treatment strategies.

  17. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

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    Franz P W Radner

    2013-06-01

    Full Text Available Autosomal recessive congenital ichthyosis (ARCI is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene deletion syndrome on chromosome 15q26.3. Genome-wide SNP-genotyping revealed a homozygous region in all affected individuals, including the same microdeletion that partially affects two coding genes (ADAMTS17, CERS3 and abolishes a sequence for a long non-coding RNA (FLJ42289. Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3 and FLJ42289 so far. However, analysis of additional patients with non-syndromic ARCI revealed a splice site mutation in CERS3 indicating that a defect in ceramide synthesis is causative for the present skin phenotype of our patients. Functional analysis of patient skin and in vitro differentiated keratinocytes demonstrated that mutations in CERS3 lead to a disturbed sphingolipid profile with reduced levels of epidermis-specific very long-chain ceramides that interferes with epidermal differentiation. Taken together, these data present a novel pathway involved in ARCI development and, moreover, provide the first evidence that CERS3 plays an essential role in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis.

  18. Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans.

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    Franz P W Radner

    2013-06-01

    Full Text Available Autosomal recessive congenital ichthyosis (ARCI is a rare genetic disorder of the skin characterized by abnormal desquamation over the whole body. In this study we report four patients from three consanguineous Tunisian families with skin, eye, heart, and skeletal anomalies, who harbor a homozygous contiguous gene deletion syndrome on chromosome 15q26.3. Genome-wide SNP-genotyping revealed a homozygous region in all affected individuals, including the same microdeletion that partially affects two coding genes (ADAMTS17, CERS3 and abolishes a sequence for a long non-coding RNA (FLJ42289. Whereas mutations in ADAMTS17 have recently been identified in autosomal recessive Weill-Marchesani-like syndrome in humans and dogs presenting with ophthalmologic, cardiac, and skeletal abnormalities, no disease associations have been described for CERS3 (ceramide synthase 3 and FLJ42289 so far. However, analysis of additional patients with non-syndromic ARCI revealed a splice site mutation in CERS3 indicating that a defect in ceramide synthesis is causative for the present skin phenotype of our patients. Functional analysis of patient skin and in vitro differentiated keratinocytes demonstrated that mutations in CERS3 lead to a disturbed sphingolipid profile with reduced levels of epidermis-specific very long-chain ceramides that interferes with epidermal differentiation. Taken together, these data present a novel pathway involved in ARCI development and, moreover, provide the first evidence that CERS3 plays an essential role in human sphingolipid metabolism for the maintenance of epidermal lipid homeostasis.

  19. Wolfram gene (WFS1) mutation causes autosomal dominant congenital nuclear cataract in humans.

    Science.gov (United States)

    Berry, Vanita; Gregory-Evans, Cheryl; Emmett, Warren; Waseem, Naushin; Raby, Jacob; Prescott, DeQuincy; Moore, Anthony T; Bhattacharya, Shomi S

    2013-12-01

    Congenital cataracts are an important cause of bilateral visual impairment in infants. Through genome-wide linkage analysis in a four-generation family of Irish descent, the disease-associated gene causing autosomal-dominant congenital nuclear cataract was mapped to chromosome 4p16.1. The maximum logarithm of odds (LOD) score was 2.62 at a recombination fraction θ=0, obtained for marker D4S432 physically close to the Wolfram gene (WFS1). By sequencing the coding regions and intron-exon boundaries of WFS1, we identified a DNA substitution (c.1385A-to-G) in exon 8, causing a missense mutation at codon 462 (E462G) of the Wolframin protein. This is the first report of a mutation in this gene causing an isolated nuclear congenital cataract. These findings suggest that the membrane trafficking protein Wolframin may be important for supporting the developing lens.

  20. Treatment and Patient Reported Outcome in Children with Hirschsprung Disease and Concomitant Congenital Heart Disease

    Science.gov (United States)

    Hasserius, Johan; Hedbys, Josefine

    2017-01-01

    Purpose. Congenital heart disease (CHD) is reported to be associated with Hirschsprung disease (HD). The aim was to evaluate any differences between children with HD with and without CHD, respectively, with regard to patient characteristics, medical care, and patient reported bowel function. Method. This is a retrospective chart study and a cross-sectional long-term follow-up of patients older than 4 years old, including all children with HD operated on with transanal endorectal pull-through (TERPT) at a tertiary center of pediatric surgery. Information about patient characteristics, diagnostics, surgery, and medical care was compiled. At long-term follow-up, bowel function was assessed by Bowel Function Score. Results. Included were 53 HD-patients, 13 with CHD and 40 without CHD. Children with CHD more commonly presented with failure to thrive; 4 (23%) compared to those without CHD (0%) (p < 0.01). In the long-term follow-up, including 32 patients (6 with CHD), constipation was more commonly reported by children with CHD 5 (83%) than by children without CHD 4 (27%) (p = 0.01). No differences were shown in the other parameters such as fecal control and incontinence. Conclusion. HD-patients with CHD more commonly presented with failure to thrive and more frequently reported constipation than HD-patients without CHD. The findings indicate that HD-patients with CHD might need special consideration in their initial care and long-term follow-up.

  1. Radiologic evaluation of coronary artery disease in adults with congenital heart disease.

    Science.gov (United States)

    Valenzuela, David M; Ordovas, Karen G

    2016-01-01

    Improved surgical and medical therapy have prolonged survival in patients with congenital heart disease (CHD) such that general medical conditions like coronary artery disease (CAD) are now the main determinants of mortality. A summary of the association of CAD with CHD, as well as a discussion of the radiologic evaluation of the coronary arteries in adults with CHD is described herein. Cross sectional imaging to evaluate CAD in adults with CHD should follow the same appropriateness criteria as gender and aged matched patients without CHD. Coronary CT imaging may be particularly valuable in evaluating the coronary arteries in this patient population as invasive coronary angiography may prove challenging secondary to complicated or unconventional anatomy of the coronary arteries. Further, typical methods for evaluating CAD such as stress or echocardiography may be impractical in adults with CHD. Finally, delineating the anatomic relationship of the coronary arteries and their relationship with the sternum, chest wall, conduits, grafts, and valves is highly recommended in patients with CHD prior to reintervention to avoid iatrogenic complications.

  2. IS LOW BIRTH WEIGHT ASSOCIATED WITH CONGENITAL HEART DISEASE?

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    Nutan Nalini

    2016-03-01

    Full Text Available BACKGROUND Daily we see lots of still birth cases and the agony associated with it after carrying the fetus for so many months with the negative outcome it is quite disheartening. Malnutrition is quite rampant in the country as far as the females are concerned and in the name of the religion and rituals, it complicates the issue further. If the mother is malnourished, the chance of low birth weight baby is high. OBJECTIVES To correlate the prevalence of cardiac anomalies in low birth weight fetuses. MATERIAL AND METHOD The study was carried out in 40 stillbirth fetuses with detailed account of nutritional status of the mother, consanguinity, history of previous pregnancies, miscarriages, socio-economic status and exposure to drugs/radiation. The number of cases with fetus having cardiac anomalies was quite significant. RESULTS Out of total 40 stillbirth fetuses, 29 (72.5% stillbirths were from less than 2.5kg and 11 (27.5% were from more than 2.5kg. Cardiac anomalies were present in 16 and 02 cases respectively. Fused heart-01, mesocardia-01, Dextrocardia with CORV-02, Interrupted aortic arch-02, Abnormal origin of right subclavian artery-01, Tetralogy of Fallot-01, VSD-07, ASD-01, transposition of great vessels-01, persistent truncus arteriosus with tricuspid atresia, elongated hypertrophied abnormally positioned Rt. Atrium, rudimentary Rt. Ventricle-01, mal-attachment of ductus arteriosus-03, double superior vena cava-01, dilated caval system-01. CONCLUSION Considering the high incidence of cardiac anomalies in fetuses of low birth weight, we must try to create awareness and support the expectant mothers to avoid the low birth weight babies and thus the congenital anomalies.

  3. Chiari s Network: Association with Other Congenital Heart Diseases

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    Hasim Husrevsahi

    2017-01-01

    Full Text Available Aim: The study was performed to assess the prevalence of Chiari%u2019s Network (CN in a pediatric outpatient department population by using transthoracic echocardiography (TTE and to determine its association with other cardiac anomalies. Material and Method: 2232 children who underwent cardiac examination and TTE at the pediatric cardiology outpatient department of our institution between April 2013 and April 2014 were included in the study. Routine M-mode, 2-D, and Doppler studies were applied. All co-existent lesions were recorded. Results: Of 2232 children, CN was detected in 76 patients (3.41% and found most frequently during the first month. Atrial septal defect and patent foramen ovale (ASD/PFO was the most common congenital defect seen with CN (55.3%. Ten children (13.2% had peripheral pulmonary stenosis (PPS and seven (9.21% showed atrial septal aneurism (ASA associated with CN. Of patients with CN, a total of 11 patients (14.5%, 10 of them 1-8 days old and 1 of them 17 days old, demonstrated right ventricular dysfunction. Three (3.9% patients 1-12 days old demonstrated biventricular diastolic dysfunction. Twenty-nine of the studied patients (11% demonstrated right ventricular diastolic dysfunction (90% 1-30 days old. Of the total 2232 patients, 267 individuals (8.4% showed ASA whereas there were only7 cases (9.6% of CN patients. Discussion: CN is an uncommon and incidental finding that should be recognized appropriately. This may not be always a normal variant. Proper documentation of CN is critical regarding possible future complications.

  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

    2014-01-01

    Aim: 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. Material and Methods: 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. Results: 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. Conclusions: 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. PMID:26078681

  5. Infective endocarditis in adults with congenital heart disease remains a lethal disease.

    Science.gov (United States)

    Tutarel, Oktay; Alonso-Gonzalez, Rafael; Montanaro, Claudia; Schiff, Renee; Uribarri, Aitor; Kempny, Aleksander; Grübler, Martin R; Uebing, Anselm; Swan, Lorna; Diller, Gerhard-Paul; Dimopoulos, Konstantinos; Gatzoulis, Michael A

    2017-07-28

    Infective endocarditis (IE) is associated with significant morbidity and mortality. Patients with adult congenital heart disease (ACHD) have an increased risk of developing IE. The aim of this study is to describe the incidence, predictors of outcome and mortality associated with IE in ACHD in a contemporary cohort. All episodes of IE in adults with congenital heart disease referred to our tertiary centre between 1999 and 2013 were included in the study. Patients were identified from the hospital database. The diagnosis of endocarditis was established according to the modified Duke criteria. The primary endpoint of the study was endocarditis-associated mortality. There were 164 episodes of IE in 144 patients (male 102, 70.8%). Mean age at presentation was 32.3±22.7 years. Out of these, 43% had a simple, 23% a moderate and 32% a complex lesion. It was at least the second bout of IE in 37 episodes (23%). A predisposing event could be identified in only 26.2% of episodes. Surgical intervention during the same admission was performed in 61 episodes (37.2%). During a median follow-up of 6.7 years (IQR 2.9-11.4), 28 (19.4%) patients died. Out of these, 10 deaths were related to IE (IE mortality 6.9%). On unvariate regression analysis, the development of an abscess (OR: 7.23; 95% CI 1.81 to 28.94, p<0.01) and age (OR: 1.05; 95% CI 1.01 to 1.10, p=0.03) were the only predictors of IE-associated mortality. There was no increase in IE cases at our centre during the period of the study. IE-associated morbidity and mortality in a contemporary cohort of ACHD patients is still high in the current era. © 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.

  6. 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.

  7. Ophthalmic Evaluation of Children from the Tibet Plateau with Congenital Heart Disease

    Institute of Scientific and Technical Information of China (English)

    Guiqin Wang; Qian Shi; Lin Sun; Jing Wang; Lei Li; Tianchang Li; Wei Wang

    2014-01-01

    Purpose:.To perform ophthalmic examinations to evaluate the ocular characteristics of children living in the Tibet plateau and diagnosed with congenital heart disease.Methods:.Children with congenital heart disease underwent a conventional ocular examination including distant acuity test, slit-lamp examination,.fundus examination,.non-contact in-traocular pressure measurement,.measurement of corneal thickness, and fundus photography.Results: Forty-two Tibetan children, aged between 4 and 18 years and diagnosed with congenital heart disease,.were en-rolled in this study..The percentage of low visual acuity was 4.76%, mean intraocular pressure was (13.67±2.15) mmHg, average corneal thickness was (492.55±33.79) μm,.96.43%had an anterior chamber depth of 1 / 2 corneal thickness (CT), and 35.7% had an obvious fundus vascular tortuosity.Conclusion:.This study adds to the understanding of the ocu-lar status of the population living in the Tibet plateau, thereby offering clinical evidence for the prevention and treatment of eye diseases in this area. (Eye Science 2014; 29:134-137)

  8. 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 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.

  9. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

    OpenAIRE

    Schenk, Barbara; Imbach, Timo; Frank, Christian G.; Grubenmann, Claudia E.; Raymond, Gerald V.; Hurvitz, Haggit; Raas-Rotschild, Annick; Luder, Anthony S.; Berger, Eric G.; Matthijs, Gert; Hennet, Thierry; Aebi, Markus; Jaeken, Jaak

    2003-01-01

    Deficiencies in the pathway of N-glycan biosynthesis lead to severe multisystem diseases, known as congenital disorders of glycosylation (CDG). The clinical appearance of CDG is variable, and different types can be distinguished according to the gene that is altered. In this report, we describe the molecular basis of a novel type of the disease in three unrelated patients diagnosed with CDG-I. Serum transferrin was hypoglycosylated and patients’ fibroblasts accumulated incomplete lipid-linked...

  10. Myocardial factor revisited: The importance of myocardial fibrosis in adults with congenital heart disease.

    Science.gov (United States)

    Broberg, Craig S; Burchill, Luke J

    2015-06-15

    Pioneers in congenital heart surgery observed that exercise capacity did not return to normal levels despite successful surgical repair, leading some to cite a "myocardial factor" playing a role. They conjectured that residual alterations in myocardial function would be significant for patients' long-term outlook. In fulfillment of their early observations, today's adult congenital heart disease (ACHD) population shows well-recognized features of heart failure, even among patients without clear residual anatomic or hemodynamic abnormalities, demonstrating the vital role of the myocardium in their morbidity and mortality. Whereas the 'myocardial factor' was an elusive concept in the early history of congenital heart care, we now have imaging techniques to detect and quantify one such factor--myocardial fibrosis. Understanding the importance of myocardial fibrosis as a final common pathway in a variety of congenital lesions provides a framework for both the study and treatment of clinical heart failure in this context. While typical heart failure pharmacology should reduce or attenuate fibrogenesis, efforts to show meaningful improvements with standard pharmacotherapy in ACHD repeatedly fall short. This paper considers the importance of myocardial fibrosis and function, the current body of evidence for myocardial fibrosis in ACHD, and its implications for research and treatment.

  11. Congenital Syphilis Presenting with Only Nephrotic Syndrome: Reemergence of a Forgotten Disease.

    Science.gov (United States)

    Kim, Yun Hee; Song, Ji Ho; Kim, Chan Jong; Yang, Eun Mi

    2017-08-01

    Syphilis infection has re-emerged after years of declining incidence. The prevalence of congenital syphilis (CS) has increased in Korea and other countries during the last few decades. Untreated infants develop symptoms such as rhinorrhea, anemia, jaundice, cutaneous lesions, hepatosplenomegaly, and pseudoparalysis within weeks or months. Significant renal disease is uncommon in CS, and clinical renal involvement varies from mild transient proteinuria to frank nephrosis. We report a 2-month-old infant with CS who presented with only nephrotic syndrome (NS). The previously healthy infant presented with NS and showed no other syphilitic manifestations. Remission of the NS was achieved with adequate penicillin treatment. No recurrence of proteinuria was observed during the 1 year of follow-up. Although rare, this long forgotten disease continues to affect pregnant women, resulting in prenatal or postnatal mortality. We still consider the possibility of syphilitic nephropathy and therefore serologic testing for congenital NS. © 2017 The Korean Academy of Medical Sciences.

  12. Eponymous cardiovascular surgeries for congenital heart diseases--imaging review and historical perspectives.

    Science.gov (United States)

    Buethe, Ji; Ashwath, Ravi C; Rajiah, Prabhakar

    2015-01-01

    Advances in pediatric cardiology and cardiac surgical techniques over the past few decades have revolutionized the management of the patients with congenital heart disease, and many now survive into adulthood. Several eponymous surgical procedures performed for congenital heart disease have been named after eminent surgeons. In this article, we provide a short biography of the surgeons associated with these eponymous surgical procedures along with their other important scientific contributions. This is followed by a review of these surgical procedures and their most common complications. Imaging appearances of these surgical procedures along with common complications are described and illustrated, with particular emphasis on magnetic resonance imaging. The surgical procedures described in this review include Blalock-Taussig, Potts, Waterston, Glenn, Fontan, Kawashima, Norwood, Sano, Damus-Kaye-Stansel, Mustard, Senning, Jatene, LeCompte, Rastelli, Rashkind, Ross, and Waldenhausen.

  13. A Primer on Computational Simulation in Congenital Heart Disease for the Clinician

    CERN Document Server

    Clementel, Irene Vignon; Feinstein, Jeffrey A; 10.1016/j.ppedcard.2010.09.002

    2011-01-01

    Interest in the application of engineering methods to problems in congenital heart disease has gained increased popularity over the past decade. The use of computational simulation to examine common clinical problems including single ventricle physiology and the associated surgical approaches, the effects of pacemaker implantation on vascular occlusion, or delineation of the biomechanical effects of implanted medical devices is now routinely appearing in clinical journals within all pediatric cardiovascular subspecialties. In practice, such collaboration can only work if both communities understand each other's methods and their limitations. This paper is intended to facilitate this communication by presenting in the context of congenital heart disease (CHD) the main steps involved in performing computational simulation-from the selection of an appropriate clinical question/problem to understanding the computational results, and all of the "black boxes" in between. We examine the current state of the art and ...

  14. Vitamin D Kinetics and Parathyroid Gland Function in Patients with Congenital Heart Disease.

    Science.gov (United States)

    Izumi, Gaku; Inai, Kei; Shimada, Eriko; Nakanishi, Toshio

    2016-12-01

    It has been recently reported that vitamin D deficiency may contribute to systemic illnesses that accompany chronic heart failure. These reports also suggest the serum levels of parathormone, which activates vitamin D in the liver, can be a useful marker of heart failure. This study was designed to evaluate the clinical implications of vitamin D and parathormone levels in patients with congenital heart diseases and chronic heart failure. We measured 25-hydroxyvitamin D and parathormone serum levels in 103 adult patients with congenital heart diseases (age range 20-89 years). Of 103 patients, 54 were in New York Heart Association functional classes II or III. Their clinical data regarding cardiothoracic ratio, fractional shortening of the systemic ventricle, brain natriuretic peptide plasma levels, and pulse oximetry were also evaluated. Of 54 patients with chronic heart failure, 50 (93%) exhibited vitamin D deficiency (25-hydroxyvitamin D serum levels 65 pg/mL). These two parameters were inversely correlated. In multivariate analyses including age, gender, 25-hydroxyvitamin D, parathormone, pulse oximetry, cardiothoracic ratio, calcium, phosphorus, glomerular filtration rate, albumin, creatine kinase, end-diastolic diameter and fractional shortening of the systemic ventricle, and ratio of early diastolic transmitral flow velocity to mitral annular velosity, only the parathormone serum levels (P < .01) remained independently associated with brain natriuretic peptide plasma levels. Moreover, in multivariate analyses including the same variables minus parathormone serum levels, both pulse oximetry (P < .01) and glomerular filtration rate (P < .01) remained independently associated with parathormone levels. Vitamin D deficiency and secondary hyperparathyroidism are common in patients with congenital heart diseases and heart failure. Serum parathormone and 25-hydroxyvitamin D levels correlated with several clinical heart failure markers, suggesting that

  15. 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...... that the MLPA assay detects clinically relevant CNVs and suggest that it could be used within pediatric cardiology as a first tier screen to detect clinically relevant CNVs and identify syndromic patients at an early stage....

  16. Congenital heart disease in the offspring and maternal habits and home exposures during pregnancy.

    Science.gov (United States)

    Tikkanen, J; Heinonen, O P

    1992-11-01

    To test the effect of maternal habits and home exposures during early pregnancy on the occurrence of congenital heart disease in the offspring, 406 cases and 756 controls were studied. The cases included all cardiovascular malformations detected in Finland during 1982-1983, while the healthy controls were randomly selected from all babies born during the same period. Case and control mothers were interviewed after delivery using a structured and pre-tested questionnaire. Maternal overall drug consumption during the first trimester was as prevalent among case mothers (13.3%) as controls (14.6%). Neither was the risk of congenital heart disease associated with maternal use of contraceptive pills, salicylates, diazepam, or sweetening agents separately. Maternal exposures to disinfectants, dyes, lacquers, paints, pesticides, or glues at home were equally prevalent in case and control groups. Several earlier miscarriages was a predictor of an infant born with congenital heart disease (OR = 2.7, CI95 = 1.4-5.3). Maternal ultrasound examination was performed during the first 16 weeks of pregnancy more often among the case group (28.3%) than among the control group (22.0%). However, the association between ultrasound examination and the risk of congenital heart disease in the offspring was not statistically significant (OR = 1.2, 95% confidence interval 0.9-1.7) when adjusted for confounding factors such as the threat of miscarriage in logistic regression analysis. It is concluded that maternal ultrasound examination, intake of some common drugs, and exposure to a number of environmental factors at home during early pregnancy are probably not harmful for the developing fetal heart.

  17. Feasibility and observer reproducibility of speckle tracking echocardiography in congenital heart disease patients.

    Science.gov (United States)

    Mokhles, Palwasha; van den Bosch, Annemien E; Vletter-McGhie, Jackie S; Van Domburg, Ron T; Ruys, Titia P E; Kauer, Floris; Geleijnse, Marcel L; Roos-Hesselink, Jolien W

    2013-09-01

    The twisting motion of the heart has an important role in the function of the left ventricle. Speckle tracking echocardiography is able to quantify left ventricular (LV) rotation and twist. So far this new technique has not been used in congenital heart disease patients. The aim of our study was to investigate the feasibility and the intra- and inter-observer reproducibility of LV rotation parameters in adult patients with congenital heart disease. The study population consisted of 66 consecutive patients seen in the outpatient clinic (67% male, mean age 31 ± 7.7 years, NYHA class 1 ± 0.3) with a variety of congenital heart disease. First, feasibility was assessed in all patients. Intra- and inter-observer reproducibility was assessed for the patients in which speckle tracking echocardiography was feasible. Adequate image quality, for performing speckle echocardiography, was found in 80% of patients. The bias for the intra-observer reproducibility of the LV twist was 0.0°, with 95% limits of agreement of -2.5° and 2.5° and for interobserver reproducibility the bias was 0.0°, with 95% limits of agreement of -3.0° and 3.0°. Intra- and inter-observer measurements showed a strong correlation (0.86 and 0.79, respectively). Also a good repeatability was seen. The mean time to complete full analysis per subject for the first and second measurement was 9 and 5 minutes, respectively. Speckle tracking echocardiography is feasible in 80% of adult patients with congenital heart disease and shows excellent intra- and inter-observer reproducibility. © 2013, Wiley Periodicals, Inc.

  18. Community-based case-control study of childhood stroke risk associated with congenital heart disease

    OpenAIRE

    Fox, CK; Sidney, S.; Fullerton, HJ

    2015-01-01

    © 2015 American Heart Association, Inc. BACKGROUND AND PURPOSE - : A better understanding of the stroke risk factors in children with congenital heart disease (CHD) could inform stroke prevention strategies. We analyzed pediatric stroke associated with CHD in a large community-based case-control study. METHODS - : From 2.5 million children (aged 30-fold (odds ratio, 31; confidence interval 4-241) increased risk of stroke in children with CHD when compared with controls. After excluding periop...

  19. Clinical Observation of Concomitant Congenital Heart Disease and Anomaly of the Urinary System in Adolescent

    Directory of Open Access Journals (Sweden)

    M.P. Limarenko

    2014-09-01

    Full Text Available The article presents the clinical observation of multiple malformations in a child: combination of congenital heart disease with an anomaly of the urinary system on the background of undifferentiated connective tissue dysplasia syndrome of maximum severity. This case report is of interest to pediatricians. Children with defects of the heart and urinary system often have other malformations, so in these patients it is important to conduct a full multisystem examination.

  20. 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.

  1. Congenital hip disease in adults: terminology, classification, pre-operative planning and management.

    Science.gov (United States)

    Karachalios, T; Hartofilakidis, G

    2010-07-01

    This paper reviews the current knowledge relating to the management of adult patients with congenital hip disease. Orthopaedic surgeons who treat these patients with a total hip replacement should be familiar with the arguments concerning its terminology, be able to recognise the different anatomical abnormalities and to undertake thorough pre-operative planning in order to replace the hip using an appropriate surgical technique and the correct implants and be able to anticipate the clinical outcome and the complications.

  2. Single ventricle, bicuspid aorta and interatrial wall aneurysm as a rare complex adult congenital heart disease: a case report

    OpenAIRE

    Berisha, Blerim; Krasniqi, Xhevdet; Thaqi, Agim; Gashi, Masar; Ko?inaj, Dardan

    2009-01-01

    Background Single ventricle, bicuspid aortic valve and interatrial wall aneurysm in adulthood are a rare and unique case in medical literature. This presented case with congenital heart disease has never been treated surgically and clinical consequences seriously presented in adulthood. Case presentation A 27 year old man with complex congenital heart disease presented. At the age of six, the single ventricle was ultrasonographly diagnosed, but at age 27 clinical consequences started to be se...

  3. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

    Soerensen, Thomas Sangild [University of Aarhus, Department of Computer Science, Aarhus N (Denmark); University of Aarhus, Institute of Clinical Medicine, Aarhus (Denmark); Beerbaum, Philipp; Razavi, Reza; Greil, Gerald Franz [King' s College London School of Medicine, Division of Imaging Sciences, London (United Kingdom); Guy' s and St. Thomas' Hospital, Department of Paediatric Cardiology, London (United Kingdom); Mosegaard, Jesper [Alexandra Institute, Aarhus (Denmark); Rasmusson, Allan [University of Aarhus, Department of Computer Science, Aarhus N (Denmark); Schaeffter, Tobias [King' s College London School of Medicine, Division of Imaging Sciences, London (United Kingdom); Austin, Conal [Guy' s and St. Thomas' Hospital, Department of Cardiothoracic Surgery, London (United Kingdom)

    2008-12-15

    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.)

  5. The emerging burden of hospital admissions of adults with congenital heart disease.

    Science.gov (United States)

    Verheugt, Carianne L; Uiterwaal, Cuno S P M; van der Velde, Enno T; Meijboom, Folkert J; Pieper, Petronella G; Sieswerda, Gertjan Tj; Plokker, Herbert W M; Grobbee, Diederick E; Mulder, Barbara J M

    2010-06-01

    To assess the extent and the characteristics of hospital admissions in registered adult patients with congenital heart disease. Observational cohort study. The Netherlands. 5798 adult patients with congenital heart disease from the Dutch CONCOR national registry linked to the Dutch National Medical Registration (Prismant). All hospital admissions from the years 2001 up until 2006. During 28 990 patient-years, 2908 patients (50%) were admitted to hospital. Median age at admission was 39 years (range 18-86 years); 46% were male. Admission rate in CONCOR patients was high among all ages (range 11-68%) and exceeded that of the general Dutch population two to three times; this difference was most pronounced in the older age groups. Altogether there were 8916 admissions, 5411 (61%) of which were for cardiovascular indications. Among cardiovascular admissions, referrals for arrhythmias were most common (31%). Of 4926 interventions, 2459 (50%) were cardiovascular, most often reparative interventions or cardioversion (53%). Most non-cardiovascular admissions were obstetric. Among defects, univentricular heart and tricuspid atresia had the highest incidence and duration of admission. Healthcare utilisation in registered and medically supervised adult patients with congenital heart disease is high and increases with age. Admission rates are at least two times higher than in the general population, and most marked in the older age groups. With the ageing of this population, a major increase in healthcare utilisation is imminent in the near future. Timely preparation of healthcare resources is crucial to sustain optimal care.

  6. 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. 

  7. The maternal-age-associated risk of congenital heart disease is modifiable.

    Science.gov (United States)

    Schulkey, Claire E; Regmi, Suk D; Magnan, Rachel A; Danzo, Megan T; Luther, Herman; Hutchinson, Alayna K; Panzer, Adam A; Grady, Mary M; Wilson, David B; Jay, Patrick Y

    2015-04-09

    Maternal age is a risk factor for congenital heart disease even in the absence of any chromosomal abnormality in the newborn. Whether the basis of this risk resides with the mother or oocyte is unknown. The impact of maternal age on congenital heart disease can be modelled in mouse pups that harbour a mutation of the cardiac transcription factor gene Nkx2-5 (ref. 8). Here, reciprocal ovarian transplants between young and old mothers establish a maternal basis for the age-associated risk in mice. A high-fat diet does not accelerate the effect of maternal ageing, so hyperglycaemia and obesity do not simply explain the mechanism. The age-associated risk varies with the mother's strain background, making it a quantitative genetic trait. Most remarkably, voluntary exercise, whether begun by mothers at a young age or later in life, can mitigate the risk when they are older. Thus, even when the offspring carry a causal mutation, an intervention aimed at the mother can meaningfully reduce their risk of congenital heart disease.

  8. [Association between fluid overload and acute renal injury after congenital heart disease surgery in infants].

    Science.gov (United States)

    Luo, De-Qiang; Chen, Zi-Li; Dai, Wei; Chen, Feng

    2017-04-01

    To study the association between fluid overload and acute kidney injury (AKI) after congenital heart disease surgery in infants. A retrospective analysis was performed on 88 infants aged less than 6 months who underwent a radical surgery for congenital heart disease. The treatment outcomes were compared between the infants with AKI after surgery and those without. The effect of cumulative fluid overload on treatment outcomes 2 days after surgery was analyzed. The risk factors for the development of AKI after surgery were assessed by logistic regression analysis. Compared with those without AKI after surgery, the patients with AKI had younger age, lower body weights, higher serum creatinine levels and higher vasoactive-inotropic score, as well as longer durations of intraoperative extracorporeal circulation and aortic occlusion (Pfluid overload 2 and 3 days after surgery (Pfluid overload and low cardiac output syndrome were major risk factors for the development of AKI after surgery. The children with cumulative fluid overload >5% at 2 days after surgery had a higher incidence rate of low cardiac output syndrome, a longer duration of mechanical ventilation, a longer length of stay in the ICU, a longer length of hospital stay, and a higher mortality rate (Pfluid overload after surgery for congenital heart disease tend to develop AKI, and fluid overload may be associated with poor outcomes after surgery.

  9. A Genetic Variant in Vitamin B12 Metabolic Genes That Reduces the Risk of Congenital Heart Disease in Han Chinese Populations

    OpenAIRE

    Wang, Jue; Zhao, Jian-Yuan; Wang, Feng; Peng, Qian-Qian; Hou, Jia; Sun, Shu-Na; Gui, Yong-Hao; Duan, Wen-Yuan; Qiao, Bin; Wang, Hong-Yan

    2014-01-01

    Background Genome-wide association studies on components of the one-carbon metabolic pathway revealed that human vitamin B12 levels could be significantly influenced by variationsinthefucosyltransferase 2 (FUT2), cubilin (CUBN), and transcobalamin-I (TCN1) genes. An altered vitamin B12 level is an important factor that disturbs the homeostasis of the folate metabolism pathway, which in turn can potentially lead to the development of congenital heart disease (CHD). Therefore, we investigated t...

  10. Managing congenital heart disease and comorbidities – opening a ...

    African Journals Online (AJOL)

    Rik De Decker, MSc, MB ChB, DCH, FCPaeds (SA), Cert Med Genetics (Paeds). Senior specialist ... On further investigation, it is found that John indeed has biliary .... Some maternal diseases, such as diabetes,9 obesity10 and ... in a study from the UK, that a normal neonatal .... In the light of resource constraints and the.

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

    DEFF Research Database (Denmark)

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

    2017-01-01

    of 12. CT resulted in a total disease burden of 123 DALYs (95% uncertainty interval [UI], 100–148), of which 78 (95% UI, 64–94) were due to foetal loss and 2 (95% UI, 1–3) were due to neonatal death; the remaining burden was due to moderate to severe life-long sequelae. A comparison of the estimated...

  12. 3D-shaded surface rendering of gadolinium-enhanced MR angiography in congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Okuda, S.; Kikinis, R.; Dumanli, H. [Surgical Planning Laboratory, Department of Radiology, Brigham and Women' s Hospital, Boston, MA (United States); Department of Radiology, Harvard Medical School, Boston, MA (United States); Geva, T.; Powell, A.J. [Department of Cardiology, Children' s Hospital, Boston, MA (United States); Department of Pediatrics, Harvard Medical School, Boston, MA (United States); Chung, T. [Department of Radiology, Children' s Hospital, Boston, MA (United States)

    2000-08-01

    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.)

  13. PROFILE OF CONGENITAL HEART DISEASE AS DIAGNOSED BY FETAL ECHOCARDIOGRAPHY, A TERTIARY CARE EXPERIENCE

    Directory of Open Access Journals (Sweden)

    Venkata Arunavalli

    2015-09-01

    Full Text Available BACKGROUND : The incidence of congenital heart disease is 0.8 in 1000 live births. Fetal echo cardiography offers a chance to detect most hemodynamically significant congenital heart disease in early pregnancy, so that their management prenatally, at birth and postnatally can be planned better. OBJECTIVES : To analyze the profile of congenital heart disease as diagnosed by fetal echocardiography, in pregnant women referred to a tertiary care centre. MATERIAL AND METHODS : The study design is retrospective, observational study. A total number of 583 fetal echo studies were performed at our C entre from January 1 st 2014 to June 30 th 2015. All studies were performed by a single operator. The main i ndications for the referral were: inability to visualize a clear four chamber view on obstetric scan, echogenic focus in LV cavity, maternal diabetes, family history of congenital heart disease, and maternal request. Statistical analysis was performed usin g statistical package for social sciences SPSS: CHICAGO, 3L VSA program. All the women with abnormal FE studies, except ones with complex CHDS were instructed to bring the new borns for 2D echo within 1 – 2 days after birth. RESULTS : Overall, significant C HD was found in 5.4% of FE studies (32 out of 583 cases . The most common indications for referral were: inability to visualize a clear four chamber view on obstetric scan, echogenic focus in LV cavity, maternal diabetes, family history of congenital heart disease, and maternal request. The risk factors with highest yield of CHD were poly hydroamnios and maternal diabetes. The commonest lesion found was ostium secundum ASD. There was a significant correlation between the presence of echogenic focus prenatal ly and small to moderate sized ostium secundum ASD after birth. CONCLUSION : Our data suggests that the risk factors with highest yield of CHD are polyhydromnios and meternal diabetes. Presence of echogenic focus in the LV in FE is associated

  14. Urinary metabolomics of bronchopulmonary dysplasia (BPD): preliminary data at birth suggest it is a congenital disease.

    Science.gov (United States)

    Fanos, Vassilios; Pintus, Maria Cristina; Lussu, Milena; Atzori, Luigi; Noto, Antonio; Stronati, Mauro; Guimaraes, Hercilia; Marcialis, Maria Antonietta; Rocha, Gustavo; Moretti, Corrado; Papoff, Paola; Lacerenza, Serafina; Puddu, Silvia; Giuffrè, Mario; Serraino, Francesca; Mussap, Michele; Corsello, Giovanni

    2014-10-01

    Bronchopulmonary dysplasia (BPD) or chronic lung disease is one of the principal causes of mortality and morbidity in preterm infants. Early identification of infants at the greater risk of developing BPD may allow a targeted approach for reducing disease severity and complications. The trigger cause of the disease comprehends the impairment of the alveolar development and the increased angiogenesis. Nevertheless, the molecular pathways characterizing the disease are still unclear. Therefore, the use of the metabolomics technique, due to the capability of identifying instantaneous metabolic perturbation, might help to recognize metabolic patterns associated with the condition. The purpose of this study is to compare urinary metabolomics at birth in 36 newborns with a gestational age below 29 weeks and birth weight congenital disease (genetics plus intrauterine epigenetics). Early identification of infants at the greater risk of developing BPD may allow a targeted approach for reducing disease severity and complications.

  15. Stem cell therapy and tissue engineering for correction of congenital heart disease

    Science.gov (United States)

    Avolio, Elisa; Caputo, Massimo; Madeddu, Paolo

    2015-01-01

    This review article reports on the new field of stem cell therapy and tissue engineering and its potential on the management of congenital heart disease. To date, stem cell therapy has mainly focused on treatment of ischemic heart disease and heart failure, with initial indication of safety and mild-to-moderate efficacy. Preclinical studies and initial clinical trials suggest that the approach could be uniquely suited for the correction of congenital defects of the heart. The basic concept is to create living material made by cellularized grafts that, once implanted into the heart, grows and remodels in parallel with the recipient organ. This would make a substantial improvement in current clinical management, which often requires repeated surgical corrections for failure of implanted grafts. Different types of stem cells have been considered and the identification of specific cardiac stem cells within the heterogeneous population of mesenchymal and stromal cells offers opportunities for de novo cardiomyogenesis. In addition, endothelial cells and vascular progenitors, including cells with pericyte characteristics, may be necessary to generate efficiently perfused grafts. The implementation of current surgical grafts by stem cell engineering could address the unmet clinical needs of patients with congenital heart defects. PMID:26176009

  16. Risk Factors for post-Cardiac Surgery Diaphragmatic Paralysis in Children with Congenital Heart Disease

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    Parvin Akbariasbagh

    2015-12-01

    Full Text Available Background: Injured phrenic nerve secondary to cardiac surgeries is the most common cause of diaphragmatic paralysis (DP in infants. The aim of this study was to determine the risk factors for DP caused by congenital heart defect corrective surgeries in pediatrics.Methods: This cross-sectional study, conducted in a 2-year period (2006–2008, included 451 children with congenital heart diseases admitted to the Pediatric Cardiac Surgery Ward of Imam Khomeini Hospital. The diaphragmatic function was examined via fluoroscopy, and the frequency of DP and its relevant parameters were evaluated.Results: Of the 451 patients, comprising 268 males and 183 females at an age range of 3 days to 204 months (28.2 ± 33.4 months, 25 (5.5% infants (60% male and 40% female, age range = 15 days to 132 months, 41.2 ± 28.1 months had DP as follows: 48% unilateral right-sided and 36% unilateral left-sided. Additionally, 68% had cyanotic congenital heart disease and 84% had DP following total correction surgery.  The highest prevalence rates of DP resulting in phrenic hemiparesis were observed after arterial switch operation, Fontan procedure, and Blalock–Taussig shunt surgery, respectively. Thirteen (52% of the 25 DP patients underwent surgical diaphragmatic plication because of severe respiratory distress and dependency on mechanical ventilation, and most of the cases of plication underwent arterial switch operation. The rate of mortality was 24% (6 patients.Conclusion: DP with a prevalence of 5.5% was one of the most common complications secondary to cardiac surgeries in the infants included in the present study. Effective factors were age, weight, cyanotic congenital heart defects, and previous cardiac surgery. Diaphragmatic plication improved prognosis in severe cases.

  17. Self-representation of children suffering from congenital heart disease and maternal competence

    Directory of Open Access Journals (Sweden)

    Giovanna Perricone

    2013-02-01

    Full Text Available Child development may be subject to forms of motor, physical, cognitive and self-representation impairments when complex congenital heart disease (CHD occurs. In some cases, inadequacy of both self-representation as well as the family system are displayed. It seems to be important to search the likely internal and external resources of the CHD child, and the possible connections among such resources, which may help him/her to manage his/her own risk condition. The research project inquires the possible resources related to the self-representation and self-esteem levels of the CHD child, and those related to maternal self-perception as competent mothers. A group of 25 children (mean age = 10.2; SD=1.8 suffering from specific forms of CHD, and a group made up of their relative mothers (mean age = 38.2; SD=5 were studied. The tools used were the Human Figure Drawing, to investigate child body-related self-representation; the TMA scale (Self-esteem Multidimensional Test, to investigate the child’s self-esteem; and the Q-sort questionnaire, to assess how mothers perceived their maternal competence. Data concerning the likely correlations between the child’s self-representation and the maternal role competence show [that] positive correlations between some indicators of maternal competence, specific aspects of CHD children’s self-representation (mothers’ emotional coping and children’s self-image adequacy and self-esteem (mothers’ emotional scaffolding and children’s self-esteem at an emotional level. By detecting the occurrence of specific correlations among resources of both child and mother, the study provides cardiologists with information that is useful for building a relationship with the families concerned, which would seem to enhance the quality of the process of the cure itself.

  18. Congenital Heart Disease (CHD) and Environmental Physical Activity, Kaunas, 1995-2005.

    Science.gov (United States)

    Stoupel, E.; Dulskiene, V.; Kuciene, R.; Abramson, E.; Israelevich, P.; Sulkes, J.

    2009-12-01

    Recent studies described a number of fetal development sides related to the environmental physical activity. The aim of this study was to check the possible links between congenital heart disease (CHD) born in a non-selected medical network and indices of environmental physical activity. Children born with CHD in Kaunas, Lithuania, in years 1995-2005 were analyzed at the end of the first year of life (including also those died after birth from this condition). Monthly distribution of CHD (total - 371, both gender (178 boys and 193 girls), 41435 births) were compared with parameters of solar (SA), geomagnetic (GMA) and cosmic ray (CRA) activity, as well as the year, at the month of birth, 9 months before and at year of birth and one year before. CRA was represented by neutron activity on the Earth's surface. Heliogeophysical data were obtained from space research centers in the USA, Russia and Finland. There was found a significant correlation between yearly number of births (r = - 0.9, p = 0.00012). Monthly number of CHD was correlated with SA and CRA often highly at the beginning of pregnancy both in monthly and yearly (r = - 0.7, p = 0.025 for SA, r = 0.8, p = 0.005 for CRA) comparison. For boys the correlation was stronger, but also it was significant for girls. GMA has not shown significant effects. It is concluded that the number of yearly and monthly CHD is connected with SA and CRA in pregnancy. Boys show high levels in these correlations. The mechanism of the cosmophysical effects on human development and temporal distribution of CHD deserve special studies.

  19. Self-representation of children suffering from congenital heart disease and maternal competence.

    Science.gov (United States)

    Perricone, Giovanna; Polizzi, Concetta; De Luca, Francesco

    2013-02-05

    Child development may be subject to forms of motor, physical, cognitive and self-representation impairments when complex congenital heart disease (CHD) occurs. In some cases, inadequacy of both self-representation as well as the family system are displayed. It seems to be important to search the likely internal and external resources of the CHD child, and the possible connections among such resources, which may help him/her to manage his/her own risk condition. The research project inquires the possible resources related to the self-representation and self-esteem levels of the CHD child, and those related to maternal self-perception as competent mothers. A group of 25 children (mean age = 10.2; SD=1.8) suffering from specific forms of CHD, and a group made up of their relative mothers (mean age = 38.2; SD=5) were studied. The tools used were the Human Figure Drawing, to investigate child body-related self-representation; the TMA scale (Self-esteem Multidimensional Test), to investigate the child's self-esteem; and the Q-sort questionnaire, to assess how mothers perceived their maternal competence. Data concerning the likely correlations between the child's self-representation and the maternal role competence show [that] positive correlations between some indicators of maternal competence, specific aspects of CHD children's self-representation (mothers' emotional coping and children's self-image adequacy) and self-esteem (mothers' emotional scaffolding and children's self-esteem at an emotional level). By detecting the occurrence of specific correlations among resources of both child and mother, the study provides cardiologists with information that is useful for building a relationship with the families concerned, which would seem to enhance the quality of the process of the cure itself.

  20. Advances in the Genetics of Congenital Heart Disease: A Clinician's Guide.

    Science.gov (United States)

    Blue, Gillian M; Kirk, Edwin P; Giannoulatou, Eleni; Sholler, Gary F; Dunwoodie, Sally L; Harvey, Richard P; Winlaw, David S

    2017-02-21

    Our understanding of the genetics of congenital heart disease (CHD) is rapidly expanding; however, many questions, particularly those relating to sporadic forms of disease, remain unanswered. Massively parallel sequencing technology has made significant contributions to the field, both from a diagnostic perspective for patients and, importantly, also from the perspective of disease mechanism. The importance of de novo variation in sporadic disease is a recent highlight, and the genetic link between heart and brain development has been established. Furthermore, evidence of an underlying burden of genetic variation contributing to sporadic and familial forms of CHD has been identified. Although we are still unable to identify the cause of CHD for most patients, recent findings have provided us with a much clearer understanding of the types of variants and their individual contributions and collectively mark an important milestone in our understanding of both familial and sporadic forms of disease.

  1. Newborn screening for critical congenital heart disease: potential roles of birth defects surveillance programs--United States, 2010-2011.

    Science.gov (United States)

    2012-10-26

    In September 2011, the Secretary of the U.S. Department of Health and Human Services (HHS) approved the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) 2010 recommendation that all newborns be screened for critical congenital heart disease (CCHD) using pulse oximetry, a noninvasive test of blood oxygenation, to prevent mortality and morbidity. CDC partnered with the National Birth Defects Prevention Network (NBDPN) to conduct a survey designed to assess state birth defect surveillance programs' potential roles, capabilities, and readiness to assist with newborn screening activities for CCHD. States were surveyed in November 2010, after the initial SACHDNC recommendation, and again in November 2011, after the Secretary's approval. From 2010 to 2011, the number of birth defects surveillance programs involved in CCHD screening increased from one to 10. Barriers exist, such as the lack of legislative authority, staffing, funding, and informatics infrastructure. Sixty-seven percent of programs take an average of more than 12 months to collect complete data on birth defect cases, including congenital heart defects. An assessment of state birth defects programs' existing data and capability to lead the evaluation of screening for CCHD is warranted.

  2. Ventricular arrhythmias and sudden cardiac death in adults with congenital heart disease.

    Science.gov (United States)

    Khairy, Paul

    2016-11-01

    Remarkable gains in survival have led to an unprecedented number of adults with congenital heart disease. Arrhythmias collectively comprise the most common complication encountered. Recognising the unique issues and challenges involved in managing arrhythmias in adults with congenital heart disease and the consequential decisions surrounding sudden death prevention, expert societies have proposed evidence-based recommendations. On the whole, acute ventricular arrhythmias are managed according to general cardiology guidelines, while taking into consideration congenital heart disease-specific issues, such as positioning of patches or paddles according to location of the heart. Implantable cardioverter-defibrillators (ICDs) are indicated for secondary prevention in patients with sustained ventricular tachycardia or resuscitated cardiac arrest in the absence of a reversible cause. Pharmacological therapy and catheter ablation can be effective in reducing recurrent ICD shocks. Risk-benefit assessment for primary prevention ICDs is a major challenge. Although a clearer picture has emerged of the high-risk patient with tetralogy of Fallot, ICD indications for those with systemic right ventricles or univentricular hearts remain contentious. Challenges to ICD implantation include obstructed veins, conduits and baffles, atrioventricular valve disease and intracardiac shunts. In selected patients, customised systems with epicardial and/or subcutaneous coils may represent a viable solution. Alternatively, the subcutaneous ICD is an attractive option for patients in whom transvenous access is not feasible or desirable and in whom bradycardia and antitachycardia pacing features are not essential. Continued advances in risk stratification and device technologies carry the potential to further improve efficacy and safety outcomes in this growing population of patients. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence

  3. Index of congenital Minamata disease in Canadian areas of concern in the Great Lakes: an eco-social epidemiological approach.

    Science.gov (United States)

    Gilbertson, Michael

    2009-10-01

    Cerebral palsy is one of the symptoms of congenital Minamata disease associated with exposure to methyl mercury. Cerebral palsy hospitalization rates for 17 Canadian Areas of Concern have been used as a health index in evaluating the effectiveness of the United States and Canadian governments in implementing their Great Lakes Water Quality Agreement. Elevated rates in males in several locations was associated with historic uses of mercury and with natural sources indicating that the governments have failed to protect human health from exposures to this persistent toxic substance. Advances in epidemiological theory indicate that the reasons for this failure cannot be explained solely in scientific and technical frames but that the social, economic, and political contexts of the two nations need to be examined.

  4. 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

  5. EARLY DETECTION OF CRITICAL CONGENITAL HEART DISEASE IN NEW BORNS USING PULSE OXIMETRY SCREENING

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    ShahForum,Chatterjee Rajib, PatelPrashant C, Kunkulol Rahul R

    2015-01-01

    Full Text Available Background: Congenital heart diseases which are dependent on the ductusarteriosus to maintain adequate oxygenation or systemic blood flow are termed as a critical congenital heart disease (CCHD. Delay in the diagnosis of CCHD is the major cause leading to morbidity and mortality in newborn infants. Clinical evaluation is likely to miss the diagnosis in first few hours of hospital stay after birth due to absence of signs and symptoms of CCHD. In the absence of clinical findings during early neonatal period, the best parameter that can be assessed is the detection of hypoxemia by pulse oximetry screening. Objectives: To record the value of Pulse Oximetry within 24 hours of birth and evaluate Pulse Oximetry as screening tool for early diagnosis of CCHD. &Methods: Longitudinal descriptive study was conducted on total 700 intramural neonates, satisfying the inclusion and exclusion criteria, who were evaluated within 24 hours of birth with currently available pulse oximeter, after the Institutional Ethical Committee approval. The study was conducted over a period of 4 months. Part-A: Neonatal Case Record, Part-B: Pulse Oximetry Screening Record, Part-C: Clinical Examination Record, Part-D: Echocardiography Record. Results and Conclusion: Total 700 neonates were screened by pulse oximeter with consecutive sampling method. 4 (0.57% subjects were detected to have positive screen and the diagnosis was confirmed by echocardiography. Study revealed that Pulse Oximetry Screening can be an important primary screening tool in routine neonatal care for early detection of Critical Congenital Heart Diseases particularly in rural setup

  6. 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 PTSD were depressive symptoms (p 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.

  7. 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.)

  8. Three-dimensional echocardiographic virtual endoscopy for the diagnosis of congenital heart disease in children.

    Science.gov (United States)

    Xue, Haihong; Sun, Kun; Yu, Jianguo; Chen, Binjin; Chen, Guozhen; Hong, Wenjing; Yao, Liping; Wu, Lanping

    2010-12-01

    Virtual endoscopy (VE) is a new post-processing method that uses volumetric data sets to simulate the tracks of a "conventional" flexible endoscope. However, almost all studies of this method have involved virtual visualizations of the cardiovascular structures applied to computed tomography (CT) and magnetic resonance (MR) datasets. This paper introduces a novel visualization method called the "three-dimensional echocardiographic intracardiac endoscopic simulation system (3DE IESS)", which uses 3D echocardiographic images in a virtual reality (VR) environment to diagnose congenital heart disease. The aim of this study was to analyze the feasibility of VE in the evaluation of congenital heart disease in children and its accuracy compared with 2DE. Three experienced pediatric cardiologists blinded to the patients' diagnoses separately reviewed 40 two-dimensional echocardiographic (2DE) datasets and 40 corresponding VE datasets and judged whether abnormal intracardiac anatomy was present in terms of a five-point scale (1 = definitely absent; 2 = probably absent; 3 = cannot be determined; 4 = probably present; and 5 = definitely present). Compared with clinical diagnosis, the diagnostic accuracy of VE was 98.7% for ASD, 92.4% for VSD, 92.6% for TOF, and 94% for DORV, respectively. Diagnostic accuracy of VE was significantly higher than that of 2DE for TOF and DORV except for ASD and VSD. The receiver operating characteristic (ROC) curve for VE was closer to the optimal performance point than was the ROC curve for 2DE. The area under the ROC curve was 0.96 for VE and 0.93 for 2DE. Kappa values (range, 0.73-0.79) for VE and 2DE indicated substantial agreement. 3D echocardiographic VE can enhance our understanding of intracardiac structures and facilitate the evaluation of congenital heart disease.

  9. [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

  10. Peripheral oxygen saturation, heart rate, and blood pressure during dental treatment of children with cyanotic congenital heart disease.

    Science.gov (United States)

    Dutra, Rosane Menezes Faria; Neves, Itamara Lucia Itagiba; Neves, Ricardo Simões; Atik, Edmar; Santos, Ubiratan de Paula

    2014-01-01

    In this observational study, we evaluated the peripheral oxygen saturation (SpO2), heart rate, and blood pressure of children with cyanotic congenital heart disease who were undergoing dental extraction. Forty-four patients between the ages of 6 and 12 years who underwent upper primary tooth extraction were included in the study. Of these, 20 patients were in the cyanotic congenital heart disease group and 24 were in the control group. Peripheral oxygen saturation, heart rate, and systolic blood pressure in the cyanotic congenital heart disease group varied quite significantly during the treatment protocol (pheart disease using a standardized protocol in decentralized offices without the support of a surgical center is safe.

  11. The epidemiology of heart failure in adults with congenital heart disease.

    Science.gov (United States)

    Rodriguez, Fred H; Marelli, Ariane J

    2014-01-01

    The impact of lifelong exposure to myocardial dysfunction in populations with congenital heart disease (CHD) is becoming increasingly recognized. Most children born with CHD now reach adulthood and the long-term sequelae of treatment are contributing to substantial comorbidity. The combination of structural changes present at birth with changes resulting from cardiac surgery can result in heart failure. This article reports on the current state of knowledge on the epidemiology of heart failure in this patient population. Copyright © 2014 Elsevier Inc. All rights reserved.

  12. Exercise Performance in Children and Young Adults After Complete and Incomplete Repair of Congenital Heart Disease.

    Science.gov (United States)

    Rosenblum, Omer; Katz, Uriel; Reuveny, Ronen; Williams, Craig A; Dubnov-Raz, Gal

    2015-12-01

    Few previous studies have addressed exercise capacity in patients with corrected congenital heart disease (CHD) and significant anatomical residua. The aim of this study was to determine the aerobic fitness and peak cardiac function of patients with corrected CHD with complete or incomplete repairs, as determined by resting echocardiography. Children, adolescents and young adults (heart defect had decreased aerobic fitness, with evidence of impaired peak cardiac function and lower pulmonary perfusion. Patients that had undergone a complete repair had decreased aerobic fitness attributed only to deconditioning. These newly identified differences explain why in previous studies, the lowest fitness was seen in patients with the most hemodynamically significant heart malformations.

  13. Osteoporosis-pseudoglioma syndrome with congenital heart disease: a new association.

    Science.gov (United States)

    Teebi, A S; Al-Awadi, S A; Marafie, M J; Bushnaq, R A; Satyanath, S

    1988-01-01

    We report a sibship of two brothers and one sister with the osteoporosis-pseudoglioma syndrome and congenital heart disease. They presented in infancy with visual impairment and psychomotor retardation. Major features included bilateral cataracts, generalised osteopenia, severe platyspondyly, borderline mental retardation, muscular hypotonia, joint laxity, and ventricular septal defect. Parental consanguinity and affected sibs of both sexes strongly suggested autosomal recessive inheritance. Analysis of the present and previously reported cases showed a wide range of interfamilial variability which may point to the existence of multiple allelism or genetic heterogeneity in this syndrome.

  14. MRI of brain disease in veterinary patients part 1: Basic principles and congenital brain disorders.

    Science.gov (United States)

    Hecht, Silke; Adams, William H

    2010-01-01

    Magnetic resonance imaging (MRI) is increasingly being used in the diagnosis of central nervous system disorders in veterinary patients and is quickly becoming the imaging modality of choice in evaluation of brain and intracranial disease. This article provides an overview of the basic principles of MRI, a description of sequences and their applications in brain imaging, and an approach to interpretation of brain MRI. A detailed discussion of imaging findings in general intracranial disorders including hydrocephalus, vasogenic edema, brain herniation, and seizure-associated changes, and the MR diagnosis of congenital brain disorders is provided. MRI evaluation of acquired brain disorders is described in a second companion article.

  15. Self management of oral anticoagulant therapy in children with congenital heart disease

    DEFF Research Database (Denmark)

    Christensen, Thomas D; Attermann, Jørn; Hjortdal, Vibeke E.

    2001-01-01

    Objective: The concept of self – management of oral anticoagulation has been shown to entail better quality of treatment than conventional management when assessed in selected adults. We have extended the concept of self – management to include children with congenital cardiac disease......, hypothesizing self-management of oral anticoagulation is also possible in this subset of patients. Our aim was to assess the quality of self-management. Methods: We trained 14 children aged from 2.2 to 15.6 years, with a mean age of 9.7 years, and their parents, in domiciliary analysis of the International...

  16. Moving towards universal prenatal detection of critical congenital heart disease in southern Nevada: a community-wide program.

    Science.gov (United States)

    Evans, William; Castillo, William; Rollins, Robert; Luna, Carlos; Kip, Katrinka; Ludwick, Joseph; Madan, Nitin; Ciccolo, Michael; Galindo, Alvaro; Rothman, Abraham; Mayman, Gary; Cass, Kathleen; Thomas, Vincent; Restrepo, Humberto; Acherman, Ruben

    2015-02-01

    This study compares the current, prenatal detection rate for critical congenital heart disease in Southern Nevada with the previously reported rate, after developing and expanding a comprehensive, community-wide fetal cardiology program. For the current-period analysis, we inquired our database and electronic health records for patients born in Clark County, Nevada, with critical congenital heart disease between May 2012 and April 2014, and we compared the results with the previous period between May 2003 and April 2006. The major components of the community-wide program include fetal congenital heart disease screening via general obstetric ultrasound studies performed in obstetrician's offices, radiology imaging centers, or maternal-fetal medicine specialty practices; subsequent referral for comprehensive fetal echocardiography performed in maternal-fetal medicine offices under the on-site supervision by fetal cardiologists; and recurring community educational programs teaching the 5-axial plane, fetal echocardiographic screening protocol to general obstetric sonographers and instructing perinatal sonographers in advanced imaging topics. For the current period, the prenatal detection rate for critical congenital heart disease in Southern Nevada was 71 versus 36% for the previous period (p congenital heart disease may be related to our expanded decentralized, community-wide fetal cardiology program, and our experiences may be applicable to other metropolitan areas.

  17. Bisphenol A and congenital developmental defects in humans

    Energy Technology Data Exchange (ETDEWEB)

    Guida, Maurizio [Department of Medicine, University of Salerno (Italy); Troisi, Jacopo, E-mail: j.troisi@studenti.unisa.it [Department of Medicine, University of Salerno (Italy); Ciccone, Carla [“G. Moscati” Hospital Avellino (Italy); Granozio, Giovanni; Cosimato, Cosimo [Department of Medicine, University of Salerno (Italy); Sardo, Attilio Di Spiezio; Ferrara, Cinzia [Department of Medicine, “Federico II”, University of Naples (Italy); Guida, Marco [Department of Biology, “Federico II”, University of Naples (Italy); Nappi, Carmine [Department of Medicine, “Federico II”, University of Naples (Italy); Zullo, Fulvio [Department of Medicine, University of Salerno (Italy); Di Carlo, Costantino [Department of Medicine, “Federico II”, University of Naples (Italy)

    2015-04-15

    Highlights: • We show a correlation between environmental exposure to BPA and fetal malformations in humans. • We show that a reduced ability to metabolize the BPA in the mother can concur to the occurrence of malformations. • The average value of free BPA appears to be nearly three times greater in case of chromosomal malformations than the controls. - Abstract: Over 50% of the causes of fetal malformations in humans are still unknown. Recent evidence suggests the relationship between environmental exposure to endocrine disruptors and fetal malformations. Our study aims to establish the role of Bisphenol A (BPA), if any, in altering human reproduction. We enrolled 151 pregnant women who were divided into two groups: case group (CS, n = 101), women with established diagnosis of developmental defect, and control group (CL, n = 50), pregnant women with normally developed fetus. Total, free and conjugated BPA were measured in their blood using GC–MS with isotopic dilution. The results show a correlation between environmental exposure to BPA and the genesis of fetal malformations. Conjugated BPA, which was higher in the CL, casts light on the hypothesis that a reduced ability to metabolize the chemical in the mother can concur to the occurrence of malformation. In a more detailed manner, in case of chromosomal malformations, the average value of free BPA appears to be nearly three times greater than that of the controls. Similarly, in case of central and peripheral nervous system non-chromosomal malformations, the value of free BPA is nearly two times greater than that of the controls.

  18. Hirschsprung’s disease and associated congenital heart defects: a prospective observational study from a single institution

    Directory of Open Access Journals (Sweden)

    Giulia eTuo

    2014-09-01

    Full Text Available Objectives: to define the prevalence and characteristics of associated congenital heart diseases in patients with Hirschsprung’s disease.Method: all patients with a histological diagnosis of Hirschsprung’s disease admitted to our hospital between January 2010 and December 2013 were included in this prospective observational study and underwent cardiovascular screening. Cardiac anatomy was assessed by a segmental echocardiographic approach. Measurements of aortic root and left ventricular dimensions, wall thickness and function were obtained. Congenital heart diseases requiring a percutaneous or surgical intervention were described as major hearts diseases.Results: 133 consecutive patients were enrolled at median age of 2.3 years. Eleven patients (8.3% presented an associated heart disease. Moreover five patients had mild dilatation of aortic root. 6/11 (4.5% patients had a major congenital heart diseases requiring surgical repair. Conclusions: prevalence of associated congenital heart diseases was slightly higher than in previous papers, and mostly represented by septal defects. 4/6 patients with major heart disease had also a chromosomal anomaly. If we do not consider the subpopulation of patients with a chromosomal anomaly, cardiac defects were present in 3.8% of the patients. Based on these results we suggest to perform routine echocardiogram in all Hirschsprung patients, with or without associated chromosomal syndromes.

  19. 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.

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

    Directory of Open Access Journals (Sweden)

    Vu Minh Phuc

    2015-01-01

    Full Text Available 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.

  1. Genetic Mapping in Human Disease

    OpenAIRE

    Altshuler, David; Daly, Mark J; Lander, Eric S.

    2008-01-01

    Genetic mapping provides a powerful approach to identify genes and biological processes underlying any trait influenced by inheritance, including human diseases. We discuss the intellectual foundations of genetic mapping of Mendelian and complex traits in humans, examine lessons emerging from linkage analysis of Mendelian diseases and genome-wide association studies of common diseases, and discuss questions and challenges that lie ahead.

  2. Functional analysis of human cytochrome P450 21A2 variants involved in congenital adrenal hyperplasia

    Energy Technology Data Exchange (ETDEWEB)

    Wang, Chunxue; Pallan, Pradeep S.; Zhang, Wei; Lei, Li; Yoshimoto, Francis K.; Waterman, Michael R.; Egli, Martin; Guengerich, F. Peter (Vanderbilt-MED)

    2017-05-24

    Cytochrome P450 (P450, CYP) 21A2 is the major steroid 21-hydroxylase, converting progesterone to 11-deoxycorticosterone and 17α-hydroxyprogesterone (17α-OH-progesterone) to 11-deoxycortisol. More than 100 CYP21A2 variants give rise to congenital adrenal hyperplasia (CAH). We previously reported a structure of WT human P450 21A2 with bound progesterone and now present a structure bound to the other substrate (17α-OH-progesterone). We found that the 17α-OH-progesterone- and progesterone-bound complex structures are highly similar, with only some minor differences in surface loop regions. Twelve P450 21A2 variants associated with either salt-wasting or nonclassical forms of CAH were expressed, purified, and analyzed. The catalytic activities of these 12 variants ranged from 0.00009% to 30% of WT P450 21A2 and the extent of heme incorporation from 10% to 95% of the WT. Substrate dissociation constants (Ks) for four variants were 37–13,000-fold higher than for WT P450 21A2. Cytochrome b5, which augments several P450 activities, inhibited P450 21A2 activity. Similar to the WT enzyme, high noncompetitive intermolecular kinetic deuterium isotope effects (≥ 5.5) were observed for all six P450 21A2 variants examined for 21-hydroxylation of 21-d3-progesterone, indicating that C–H bond breaking is a rate-limiting step over a 104-fold range of catalytic efficiency. Using UV-visible and CD spectroscopy, we found that P450 21A2 thermal stability assessed in bacterial cells and with purified enzymes differed among salt-wasting- and nonclassical-associated variants, but these differences did not correlate with catalytic activity. Our in-depth investigation of CAH-associated P450 21A2 variants reveals critical insight into the effects of disease-causing mutations on this important enzyme.

  3. Human retinal gene therapy for Leber congenital amaurosis shows advancing retinal degeneration despite enduring visual improvement.

    Science.gov (United States)

    Cideciyan, Artur V; Jacobson, Samuel G; Beltran, William A; Sumaroka, Alexander; Swider, Malgorzata; Iwabe, Simone; Roman, Alejandro J; Olivares, Melani B; Schwartz, Sharon B; Komáromy, András M; Hauswirth, William W; Aguirre, Gustavo D

    2013-02-05

    Leber congenital amaurosis (LCA) associated with retinal pigment epithelium-specific protein 65 kDa (RPE65) mutations is a severe hereditary blindness resulting from both dysfunction and degeneration of photoreceptors. Clinical trials with gene augmentation therapy have shown partial reversal of the dysfunction, but the effects on the degeneration are not known. We evaluated the consequences of gene therapy on retinal degeneration in patients with RPE65-LCA and its canine model. In untreated RPE65-LCA patients, there was dysfunction and degeneration of photoreceptors, even at the earliest ages. Examined serially over years, the outer photoreceptor nuclear layer showed progressive thinning. Treated RPE65-LCA showed substantial visual improvement in the short term and no detectable decline from this new level over the long term. However, retinal degeneration continued to progress unabated. In RPE65-mutant dogs, the first one-quarter of their lifespan showed only dysfunction, and there was normal outer photoreceptor nuclear layer thickness retina-wide. Dogs treated during the earlier dysfunction-only stage showed improved visual function and dramatic protection of treated photoreceptors from degeneration when measured 5-11 y later. Dogs treated later during the combined dysfunction and degeneration stage also showed visual function improvement, but photoreceptor loss continued unabated, the same as in human RPE65-LCA. The results suggest that, in RPE65 disease treatment, protection from visual function deterioration cannot be assumed to imply protection from degeneration. The effects of gene augmentation therapy are complex and suggest a need for a combinatorial strategy in RPE65-LCA to not only improve function in the short term but also slow retinal degeneration in the long term.

  4. 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

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

    Energy Technology Data Exchange (ETDEWEB)

    Laya, Bernard F. [St. Luke' s Medical Center, Department of Radiology, Quezon (Philippines); Goske, Marilyn J. [The Cleveland Clinic Foundation, Section of Pediatric Radiology, The Children' s Hospital, Cleveland, OH (United States); Children' s Hospital Medical Center of Akron, Department of Radiology, Akron, OH (United States); Morrison, Stuart; Reid, Janet R. [The Cleveland Clinic Foundation, Section of Pediatric Radiology, The Children' s Hospital, Cleveland, OH (United States); Swischuck, Leonard [The University of Texas Medical Branch, Department of Radiology, Galveston, TX (United States); Ey, Elizabeth H. [The Children' s Medical Center, Department of Medical Imaging, Dayton, OH (United States); Murphy, Daniel J. [Stanford University Medical Center, Department of Pediatrics, Palo Alto, CA (United States); Lieber, Michael; Obuchowski, Nancy [The Cleveland Clinic Foundation, Department of Quantitative Health Sciences, Cleveland, OH (United States)

    2006-07-15

    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.)

  6. Mortality from Congenital Heart Disease in Mexico: A Problem on the Rise.

    Directory of Open Access Journals (Sweden)

    José Luis Torres-Cosme

    Full Text Available Temporal trends in mortality from congenital heart disease (CHD vary among regions. It is therefore necessary to study this problem in each country. In Mexico, congenital anomalies were responsible for 24% of infant mortality in 2013 and CHD represented 55% of total deaths from congenital anomalies among children under 1 year of age. The objectives of this study were to analyze the trends in infant mortality from CHD in Mexico (1998 to 2013, its specific causes, age at death and associated socio-demographic factors.Population-based study which calculated the compounded annual growth rate of death rom CHD between 1998 and 2013. Specific causes, age at which death from CHD occurred and risk factors associated with mortality were analyzed for the year 2013.Infant mortality from CHD increased 24.8% from 1998 to 2013 (114.4 to 146.4/ 100,000 live births. A total of 3,593 CHD deaths occurred in 2013; the main causes were CHD with left-to-right shunt (n = 487; 19.8/100,000 live births and cyanotic heart disease (n = 410; 16.7/100,000. A total of 1,049 (29.2% deaths from CHD occurred during the first week of life. Risk factors associated with mortality from CHD were, in order of magnitude: non-institutional birth, rural area, birth in a public hospital and male sex.Mortality from CHD has increased in Mexico. The main causes were CHD with left-to-right shunt, which are not necessarily fatal if treated promptly. Populations vulnerable to death from CHD were identified. Approximately one-third of the CHD occurred during the first week of life. It is important to promote early diagnosis, especially for non-institutional births.

  7. Mortality from Congenital Heart Disease in Mexico: A Problem on the Rise

    Science.gov (United States)

    Torres-Cosme, José Luis; Rolón-Porras, Constanza; Aguinaga-Ríos, Mónica; Acosta-Granado, Pedro Manuel; Reyes-Muñoz, Enrique; Murguía-Peniche, Teresa

    2016-01-01

    Background and Objectives Temporal trends in mortality from congenital heart disease (CHD) vary among regions. It is therefore necessary to study this problem in each country. In Mexico, congenital anomalies were responsible for 24% of infant mortality in 2013 and CHD represented 55% of total deaths from congenital anomalies among children under 1 year of age. The objectives of this study were to analyze the trends in infant mortality from CHD in Mexico (1998 to 2013), its specific causes, age at death and associated socio-demographic factors. Methods Population-based study which calculated the compounded annual growth rate of death rom CHD between 1998 and 2013. Specific causes, age at which death from CHD occurred and risk factors associated with mortality were analyzed for the year 2013. Results Infant mortality from CHD increased 24.8% from 1998 to 2013 (114.4 to 146.4/ 100,000 live births). A total of 3,593 CHD deaths occurred in 2013; the main causes were CHD with left-to-right shunt (n = 487; 19.8/100,000 live births) and cyanotic heart disease (n = 410; 16.7/100,000). A total of 1,049 (29.2%) deaths from CHD occurred during the first week of life. Risk factors associated with mortality from CHD were, in order of magnitude: non-institutional birth, rural area, birth in a public hospital and male sex. Conclusions Mortality from CHD has increased in Mexico. The main causes were CHD with left-to-right shunt, which are not necessarily fatal if treated promptly. Populations vulnerable to death from CHD were identified. Approximately one-third of the CHD occurred during the first week of life. It is important to promote early diagnosis, especially for non-institutional births. PMID:26937635

  8. 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.

  9. 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

  10. Molecular and Genetic Studies of Congenital Myopathies

    Science.gov (United States)

    2016-12-08

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

  11. 3D Printing to Guide Ventricular Assist Device Placement in Adults With Congenital Heart Disease and Heart Failure.

    Science.gov (United States)

    Farooqi, Kanwal M; Saeed, Omar; Zaidi, Ali; Sanz, Javier; Nielsen, James C; Hsu, Daphne T; Jorde, Ulrich P

    2016-04-01

    As the population of adults with congenital heart disease continues to grow, so does the number of these patients with heart failure. Ventricular assist devices are underutilized in adults with congenital heart disease due to their complex anatomic arrangements and physiology. Advanced imaging techniques that may increase the utilization of mechanical circulatory support in this population must be explored. Three-dimensional printing offers individualized structural models that would enable pre-surgical planning of cannula and device placement in adults with congenital cardiac disease and heart failure who are candidates for such therapies. We present a review of relevant cardiac anomalies, cases in which such models could be utilized, and some background on the cost and procedure associated with this process.

  12. Vitamin D Status After Cardiopulmonary Bypass in Children With Congenital Heart Disease.

    Science.gov (United States)

    Abou Zahr, Riad; Faustino, Edward Vincent S; Carpenter, Thomas; Kirshbom, Paul; Hall, E Kevin; Fahey, John T; Kandil, Sarah B

    2016-06-01

    Deficiency in 25-hydroxyvitamin D (25OHD) is associated with increased morbidity and mortality in the critically ill. Children who underwent surgery for congenital heart disease under cardiopulmonary bypass (CPB) are typically deficient in 25OHD. It is unclear whether this deficiency is due to CPB. We hypothesized that CPB reduces the levels of 25OHD in children with congenital heart disease. We conducted a prospective observational study on children aged 2 months to 17 years who underwent CPB. Serum was collected at 3 time points: immediately before, immediately after surgery, and 24 hours after surgery. 25-Hydroxyvitamin D, 1,25-dihydroxyvitamin D, 1,25(OH)2D, vitamin D binding protein, and albumin levels were measured. Levels were compared using repeated measures analysis of variance. We enrolled 20 patients, 40% were deficient in 25OHD with levels Vitamin D binding protein and albumin levels did not significantly change. Cardiopulmonary bypass decreases 25OHD by reducing the free fraction. Current investigations are geared to establish whether vitamin D deficiency is associated with outcomes and if treatment is appropriate.

  13. 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.)

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

    Science.gov (United States)

    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 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.

  15. Role of Computational Modelling in Planning and Executing Interventional Procedures for Congenital Heart Disease.

    Science.gov (United States)

    Slesnick, Timothy C

    2017-09-01

    Increasingly, computational modelling and numerical simulations are used to help plan complex surgical and interventional cardiovascular procedures in children and young adults with congenital heart disease. From its origins more than 30 years ago, surgical planning with analysis of flow hemodynamics and energy loss/efficiency has helped design and implement many modifications to existing techniques. On the basis of patient-specific medical imaging, surgical planning allows accurate model production that can then be manipulated in a virtual surgical environment, with the proposed solutions finally tested with advanced computational fluid dynamics to evaluate the results. Applications include a broad range of congenital heart disease, including patients with single-ventricle anatomy undergoing staged palliation, those with arch obstruction, with double outlet right ventricle, or with tetralogy of Fallot. In the present work, we focus on clinical applications of this exciting field. We describe the framework for these techniques, including brief descriptions of the engineering principles applied and the interaction between "benchtop" data with medical decision-making. We highlight some early insights learned from pioneers over the past few decades, including refinements in Fontan baffle geometries and configurations. Finally, we offer a glimpse into exciting advances that are presently being explored, including use of modelling for transcatheter interventions. In this era of personalized medicine, computational modelling and surgical planning allows patient-specific tailoring of interventions to optimize clinical outcomes. Copyright © 2017 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  16. Repeatability of cardiac-MRI-measured right ventricular size and function in congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Walsh, Rowan; Salem, Yishay [Mount Sinai School of Medicine, Division of Pediatric Cardiology, New York, NY (United States); Shah, Amee; Lai, Wyman W. [Morgan Stanley Children' s Hospital of New York Presbyterian, New York, NY (United States); Nielsen, James C. [Mount Sinai School of Medicine, Division of Pediatric Cardiology, New York, NY (United States); Mount Sinai Children' s Heart Center, Box 1201, New York, NY (United States)

    2011-08-15

    The measurement error for right ventricular (RV) size and function assessed by cardiac MRI (CMRI) in congenital heart disease has not been fully characterized. As CMRI parameters are being increasingly utilized to make clinical decisions, defining error in the clinical setting is critical. This investigation examines the repeatability of CMRI for RV size and function. Forty consecutive people with congenital heart disease involving the RV were retrospectively identified. Contouring of RV volumes was performed by two expert CMRI clinicians. The coefficient of variability and repeatability coefficients were calculated. Repeatability coefficients were multiplied by the mean value for each group studied to define a threshold beyond which measurement error was unlikely to be responsible. The variability for indexed RV end-diastolic volume = 3.2% and 3.3% for intra- and interobserver comparisons, respectively. The repeatability coefficients were 13.2% and 14.9% for intra- and interobserver comparisons, which yielded threshold values of 15.1 ml/m{sup 2} and 20.2 ml/m{sup 2}, respectively. For RV ejection fraction (EF), the repeatability coefficients for intra- and interobserver comparisons were 5.0% and 6.0%, which resulted in threshold values of 2.6 EF% and 3.0 EF%. The threshold values generated can be used during serial assessment of RV size and function. (orig.)

  17. Cine magnetic resonance imaging for evaluation of cardiac structure and flow dynamics in congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Akagi, Teiji; Kiyomatsu, Yumi; Ohara, Nobutoshi; Takagi, Junichi; Sato, Noboru; Kato, Hirohisa (Kurume Univ., Fukuoka (Japan). School of Medicine); Eto, Takaharu

    1989-10-01

    Cine magnetic resonance imaging (Cine MRI) was performed in 20 patients aged 19 days to 13 years (mean 4.0 years), who had congenital heart disease confirmed at echocardiography or angiography. Prior to cine MRI, gated MRI was performed to evaluate for cardiac structure. Cine MRI was demonstrated by fast low fip angle shot imaging technique with a 30deg flip angle, 15 msec echo time, 30-40 msec pulse repetition time, and 128 x 128 acquisition matrix. Abnormalities of cardiac structure were extremely well defined in all patients by gated MRI. Intracardiac or intravascular blood flow were visualized in 17 (85%) of 20 patients by cine MRI. Left to right shunt flow through ventricular septal defect, atrial septal defect, and endocardial cushion defect were visualized with low signal intensity area. Low intensity jets flow through the site of re-coarctation of the aorta were also visualized. However, the good recording of cine MRI was not obtained because of artifacts in 3 of 20 patients (15%) who had severe congestive heart failure or respiratory arrhythmia. Gated MRI provides excellent visualization of fine structure, and cine MRI can provide high spatial resolution imaging of flow dynamic in a variety of congenital heart disease, noninvasively. (author).

  18. Left-to-Right Shunt with Congenital Heart Disease: Single Center Experience

    Science.gov (United States)

    Cevik, Ayhan; Olgunturk, Rana; Kula, Serdar; Saylan, Berna; Pektas, Ayhan; Oguz, Deniz; Tunaoglu, Sedef

    2013-01-01

    Objective. The objective of this study was to determine the frequency of pulmonary arterial hypertension (PAH) in congenital heart disease (CHD) with an isolated, large left-to-right shunt and to indicate the factors in the development of PAH. Methods. The pressure measurements in the cardiac chambers and the calculations based on the Fick's principle were compared among 3 separate groups of patients, respectively, with PAH, with hyperkinetic pulmonary hypertension (HPH), and with neither PAH nor HPH. Results. PAH was diagnosed in 30 (12.3%) patients, HPH in 35 (14.4%), while 177 (73.1%) were free of either. The highest risk for the development of PAH was found in the presence of perimembranous ventricular septal defect. A statistically significant difference was seen among these groups as to their left atrial pressure (p = 0.005) and the mean pulmonary arterial pressure (PAPmean; p < 0.001). While a correlation was present between RpI on one hand and age on the other (p = 0.014), a multiple linear regression could not evidence any correlation among age (p = 0.321), gender (p = 0.929). Conclusion. Our findings do not allow establishing a correlation between the duration of the high pulmonary flow and pulmonary vascular resistance increase or PAH development in isolated left-to-right shunts with congenital heart diseases. PMID:23862073

  19. Thrombocytosis in asplenia syndrome with congenital heart disease: a previously unrecognized risk factor for thromboembolism.

    Science.gov (United States)

    Yamamura, Kenichiro; Joo, Kunitaka; Ohga, Shouichi; Nagata, Hazumu; Ikeda, Kazuyuki; Muneuchi, Jun; Watanabe, Mamie; Hara, Toshiro

    2013-09-01

    Thrombocytosis and thromboembolic complications occur after splenectomy. However, there is no previous report investigating the presence of thrombocytosis and its association with thromboembolic events in patients having asplenia syndrome with congenital heart disease. Enrolled were 161 consecutive patients with functionally single ventricle who underwent cardiac catheterization between 1997 and 2010. They were divided into two groups: patients having asplenia (Group A, n=46) and patients having no asplenia (Group B, n=115). Aspirin therapy was employed in all patients after surgical interventions except for pulmonary artery banding. We retrospectively reviewed the platelet counts at each seven stage of cardiac catheterization (for pre- and postoperative evaluation of the first palliation, Glenn operation, and Fontan operation, and for late evaluation after Fontan operation), incidence of thromboembolic events, and other possible risk factors for thromboembolism. The median platelet counts in Group A were consistently higher than those in Group B at any of the seven stages of cardiac catheterizations (pthrombocytosis is present in patients with asplenia syndrome. It may greatly contribute to the development of thromboembolism during the management of congenital heart disease than expected. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.

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

    Energy Technology Data Exchange (ETDEWEB)

    Kohata, Tohru; Ono, Yasuo; Kamiya, Tetsuro; Nishimura, Tsunehiko; Takamiya, Makoto; Yagihara, Toshikatsu (National Cardiovascular Center, Suita, Osaka (Japan))

    1991-11-01

    {sup 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 {sup 67}Ga over the heart and the lungs was evaluated with a computer. Abnormal uptake of {sup 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 {sup 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 {sup 67}Ga, while in 12 patients without vegetation three showed it. In conclusion, {sup 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. Identification of a novel ZIC3 isoform and mutation screening in patients with heterotaxy and congenital heart disease.

    Directory of Open Access Journals (Sweden)

    James E J Bedard

    Full Text Available Patients with heterotaxy have characteristic cardiovascular malformations, abnormal arrangement of their visceral organs, and midline patterning defects that result from abnormal left-right patterning during embryogenesis. Loss of function of the transcription factor ZIC3 causes X-linked heterotaxy and isolated congenital heart malformations and represents one of the few known monogenic causes of congenital heart disease. The birth incidence of heterotaxy-spectrum malformations is significantly higher in males, but our previous work indicated that mutations within ZIC3 did not account for the male over-representation. Therefore, cross species comparative sequence alignment was used to identify a putative novel fourth exon, and the existence of a novel alternatively spliced transcript was confirmed by amplification from murine embryonic RNA and subsequent sequencing. This transcript, termed Zic3-B, encompasses exons 1, 2, and 4 whereas Zic3-A encompasses exons 1, 2, and 3. The resulting protein isoforms are 466 and 456 amino acid residues respectively, sharing the first 407 residues. Importantly, the last two amino acids in the fifth zinc finger DNA binding domain are altered in the Zic3-B isoform, indicating a potential functional difference that was further evaluated by expression, subcellular localization, and transactivation analyses. The temporo-spatial expression pattern of Zic3-B overlaps with Zic3-A in vivo, and both isoforms are localized to the nucleus in vitro. Both isoforms can transcriptionally activate a Gli binding site reporter, but only ZIC3-A synergistically activates upon co-transfection with Gli3, suggesting that the isoforms are functionally distinct. Screening 109 familial and sporadic male heterotaxy cases did not identify pathogenic mutations in the newly identified fourth exon and larger studies are necessary to establish the importance of the novel isoform in human disease.

  2. Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha 2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease?

    Science.gov (United States)

    Taniguchi, Mariko; Kurahashi, Hiroki; Noguchi, Satoru; Sese, Jun; Okinaga, Takeshi; Tsukahara, Toshifumi; Guicheney, Pascale; Ozono, Keiichi; Nishino, Ichizo; Morishita, Shinichi; Toda, Tatsushi

    2006-04-07

    Fukuyama-type congenital muscular dystrophy (FCMD) and laminin-alpha2 deficient congenital muscular dystrophy (MDC1A) are congenital muscular dystrophies (CMDs) and they both are categorized into the same clinical entity of muscular dystrophy as Duchenne muscular dystrophy (DMD). All three disorders share a common etiologic defect in the dystrophin-glycoprotein complex, which connects muscle structural proteins with the extracellular basement membrane. To investigate the pathophysiology of these CMDs, we generated microarray gene expression profiles of skeletal muscle from patients in various clinical stages. Despite diverse pathological changes, the correlation coefficient of overall gene expression among these samples was considerably high. We performed a multi-dimensional statistical analysis, the Distillation, to extract determinant genes that distinguish CMD muscle from normal controls. Up-regulated genes were primarily extracellular matrix (ECM) components, whereas down-regulated genes included structural components of mature muscle. These observations reflect active interstitial fibrosis with less active regeneration of muscle cell components in the CMDs, characteristics that are clearly distinct from those of DMD. Although the severity of fibrosis varied among the specimens tested, ECM gene expression was consistently high without substantial changes through the clinical course. Further, in situ hybridization showed more prominent ECM gene expression on muscle cells than on interstitial tissue cells, suggesting that ECM components are induced by regeneration process rather than by 'dystrophy.' These data imply that the etiology of FCMD and MDC1A differs from that of the chronic phase of classical muscular dystrophy, and the major pathophysiologic change in CMDs might instead result from primary active fibrosis.

  3. Variability in noncardiac surgical procedures in children with congenital heart disease.

    Science.gov (United States)

    Sulkowski, Jason P; Cooper, Jennifer N; McConnell, Patrick I; Pasquali, Sara K; Shah, Samir S; Minneci, Peter C; Deans, Katherine J

    2014-11-01

    The purpose of this study was to examine the volume and variability of noncardiac surgeries performed in children with congenital heart disease (CHD) requiring cardiac surgery in the first year of life. Patients who underwent cardiac surgery by 1 year of age and had a minimum 5-year follow-up at 22 of the hospitals contributing to the Pediatric Health Information System database between 2004 and 2012 were included. Frequencies of noncardiac surgical procedures by age 5 years were determined and categorized by subspecialty. Patients were stratified according to their maximum RACHS-1 (Risk Adjustment in Congenital Heart Surgery) category. The proportions of patients across hospitals who had a noncardiac surgical procedure for each subspecialty were compared using logistic mixed effects models. 8857 patients underwent congenital heart surgery during the first year of life, 3621 (41%) of whom had 13,894 noncardiac surgical procedures by 5 years. Over half of all procedures were in general surgery (4432; 31.9%) or otolaryngology (4002; 28.8%). There was significant variation among hospitals in the proportion of CHD patients having noncardiac surgical procedures. Compared to children in the low risk group (RACHS-1 categories 1-3), children in the high-risk group (categories 4-6) were more likely to have general, dental, orthopedic, and thoracic procedures. Children with CHD requiring cardiac surgery frequently also undergo noncardiac surgical procedures; however, considerable variability in the frequency of these procedures exists across hospitals. This suggests a lack of uniformity in indications used for surgical intervention. Further research should aim to better standardize care for this complex patient population. Copyright © 2014 Elsevier Inc. All rights reserved.

  4. The Application of an Anatomical Database for Fetal Congenital Heart Disease

    Institute of Scientific and Technical Information of China (English)

    Li Yang; Qiu-Yan Pei; Yun-Tao Li; Zhen-Juan Yang

    2015-01-01

    Background:Fetal congenital heart anomalies are the most common congenital anomalies in live births.Fetal echocardiography (FECG) is the only prenatal diagnostic approach used to detect fetal congenital heart disease (CHD).FECG is not widely used,and the antenatal diagnosis rate of CHD varies considerably.Thus,mastering the anatomical characteristics of different kinds of CHD is critical for ultrasound physicians to improve FECG technology.The aim of this study is to investigate the applications of a fetal CHD anatomic database in FECG teaching and training program.Methods:We evaluated 60 transverse section databases including 27 types of fetal CHD built in the Prenatal Diagnosis Center in Peking University People's Hospital.Each original database contained 400-700 cross-sectional digital images with a resolution of 3744 pixels × 5616 pixels.We imported the database into Amira 5.3.1 (Australia Visage Imaging Company,Australia) three-dimensional (3D) software.The database functions use a series of 3D software visual operations.The features of the fetal CHD anatomical database were analyzed to determine its applications in FECG continuing education and training.Results:The database was rebuilt using the 3D software.The original and rebuilt databases can be displayed dynamically,continuously,and synchronically and can be rotated at arbitrary angles.The sections from the dynamic displays and rotating angles are consistent with the sections in FECG.The database successfully reproduced the anatomic structures and spatial relationship features of different fetal CHDs.We established a fetal CHD anatomy training database and a standardized training database for FECG.Ultrasound physicians and students can learn the anatomical features of fetal CHD and FECG through either centralized training or distance education.Conclusions:The database of fetal CHD successfully reproduced the anatomic structures and spatial relationship of different kinds of fetal CHD.This database can be

  5. Eisenmenger syndrome and long-term survival in patients with Down syndrome and congenital heart disease.

    Science.gov (United States)

    Körten, Marc-André; Helm, Paul C; Abdul-Khaliq, Hashim; Baumgartner, Helmut; Kececioglu, Deniz; Schlensak, Christian; Bauer, Ulrike M M; Diller, Gerhard-Paul

    2016-10-01

    To characterise patients with trisomy 21 (Down syndrome, DS) based on the data of the German National Register for Congenital Heart Defects, to identify changes in the availability of surgical therapy over time and to analyse the impact of these changes on developing Eisenmenger syndrome (ES) as well as survival. Out of 1549 patients with DS with congenital heart disease in the National Register for Congenital Heart Defects, 894 patients (55% female, mean age 17.5 years) had a post-tricuspid shunt lesion (atrioventricular septal defect 69.5%, ventricular septal defect 27.7%, patent arterial duct 2.6%) and were included in the current study. The likelihood of being treated interventionally or surgically before the age of 1 year increased significantly over time. In parallel, the likelihood of developing ES decreased over time (53% birth cohort during 1950s/1960s vs 0.5% birth cohort during 2000-2009, p<0.0001). Overall survival after 1, 10, 20 and 40 years was 96.8%, 94.1%, 92.6% and 75.5%, respectively. Patients with ES had a significantly worse survival compared with those without ES (HR 18.1; 95% CI 7.2 to 45.4; p<0.0001). The availability of surgical correction was associated with a decrease in the likelihood of developing ES. Patients with DS still have reduced survival prospects compared with the general population, but this effect is largely driven by patients developing ES who still have a very poor prognosis. 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/

  6. The importance of early involvement of paediatric palliative care for patients with severe congenital heart disease.

    Science.gov (United States)

    Bertaud, Sophie; Lloyd, David F A; Laddie, Joanna; Razavi, Reza

    2016-10-01

    Growing numbers of patients with severe congenital heart disease (CHD) are surviving into late childhood and beyond. This increasingly complex patient group may experience multiple formidable and precarious interventions, lifelong morbidity and the very real risk of premature death on many occasions throughout their childhood. In this paper, we discuss the advantages of a fully integrated palliative care ethos in patients with CHD, offering the potential for improved symptom control, more informed decision-making and enhanced support for patients and their families throughout their disease trajectory. These core principles may be delivered alongside expert cardiac care via non-specialists within pre-existing networks or via specialists in paediatric palliative care when appropriate. By broaching these complex issues early-even from the point of diagnosis-an individualised set of values can be established around not just end-of-life but also quality-of-life decisions, with clear benefits for patients and their families regardless of outcome.

  7. Congenital heart disease and cardiac procedural outcomes in patients with trisomy 21 and Turner syndrome.

    Science.gov (United States)

    Morales-Demori, Raysa

    2017-07-24

    Congenital heart disease (CHD) is present in approximately 50% of patients with trisomy 21 (T21) and Turner syndrome (TS). According to the American Academy of Pediatrics, every patient with these genetic disorders should have a postnatal echocardiogram. T21 is usually associated with atrioventricular (30%-60%), atrial (16%-21%), or ventricular septal defects (14%-27%). TS is usually associated with left-sided heart disease. However, the spectrum of CHD in these genetic disorders is wider than those mentioned lesions. More cardiac surgical procedures are offered to these patients and that has influenced positively their life expectancy for some CHD conditions. Single ventricular anatomy is associated with high mortality in these genetic disorders (49% in T21 and 83%-91% in TS). The goal of this article is to describe the spectrum of CHD, screening guidelines, and cardiac surgical outcomes in patients with T21 or TS with CHD. © 2017 Wiley Periodicals, Inc.

  8. 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......%) 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. CONCLUSIONS: Adding a tailored eHealth intervention to health education and individual...

  9. Paternal aging and increased risk of congenital disease, psychiatric disorders, and cancer

    Directory of Open Access Journals (Sweden)

    Simon L Conti

    2016-01-01

    Full Text Available As couples are increasingly delaying parenthood, the effect of the aging men and women on reproductive outcomes has been an area of increased interest. Advanced paternal age has been shown to independently affect the entire spectrum of male fertility as assessed by reductions in sperm quality and fertilization (both assisted and unassisted. Moreover, epidemiological data suggest that paternal age can lead to higher rates of adverse birth outcomes and congenital anomalies. Mounting evidence also suggests increased risk of specific pediatric and adult disease states ranging from cancer to behavioral traits. While disease states associated with advancing paternal age have been well described, consensus recommendations for neonatal screening have not been as widely implemented as have been with advanced maternal age.

  10. Off-label use of cardiovascular medications in children hospitalized with congenital and acquired heart disease.

    Science.gov (United States)

    Pasquali, Sara K; Hall, Matthew; Slonim, Anthony D; Jenkins, Kathy J; Marino, Bradley S; Cohen, Meryl S; Shah, Samir S

    2008-11-01

    Many barriers exist to conducting pediatric cardiovascular (CV) trials, and the majority of therapies used are not evidence based. Recent legislation has aimed to stimulate pediatric research and improve drug labeling. This study describes off-label use of CV medications in children hospitalized with congenital and acquired CV disease. The 2005 Pediatric Health Information System database was queried for patients with CV International Classification of Disease, Ninth Revision codes who received CV medications. Off-label use (patient younger than US Food and Drug Administration-approved age) was described. Multivariate analysis used Poisson regression to model the number of CV drugs received off-label. There were 31,432 patients included (median age, 10.4 months; interquartile range, 30 days to 6.8 years). Congenital heart disease (67%) was the most common diagnosis. Other diagnoses included hypertension, arrhythmia, myocarditis/cardiomyopathy, pulmonary hypertension, rheumatic fever/endocarditis, and heart transplant. Seventy-eight percent received > or = 1 CV medication off-label, and 31% received > or = 3 CV medications off-label. The most commonly used CV medications were furosemide, epinephrine, dopamine, lidocaine, and milrinone. The latter 3 (prescribed in 69% of patients) were used off-label in all cases. Medications studied under recent federal initiatives were prescribed in only 20% of patients, and were still used off-label 62% of the time. In multivariate analysis, heart transplant recipients (odds ratio 1.7; 95% CI 1.5 to 1.9) were most likely to receive a greater number of off-label CV medications. Despite recent legislation, off-label use of CV medications in the pediatric population is common. These data highlight the need for further study to determine which treatments should be used more frequently and which are unsafe or ineffective in children hospitalized with CV disease.

  11. Height, weight and body mass index in adults with congenital heart disease.

    Science.gov (United States)

    Sandberg, Camilla; Rinnström, Daniel; Dellborg, Mikael; Thilén, Ulf; Sörensson, Peder; Nielsen, Niels-Erik; Christersson, Christina; Wadell, Karin; Johansson, Bengt

    2015-01-01

    High BMI is a risk factor for cardiovascular disease and, in contrast, low BMI is associated with worse prognosis in heart failure. The knowledge on BMI and the distribution in different BMI-classes in adults with congenital heart disease (CHD) are limited. Data on 2424 adult patients was extracted from the Swedish Registry on Congenital Heart Disease and compared to a reference population (n=4605). The prevalence of overweight/obesity (BMI ≥ 25) was lower in men with variants of the Fontan procedure, pulmonary atresia (PA)/double outlet right ventricle (DORV) and aortic valve disease (AVD) (Fontan 22.0% and PA/DORV 15.1% vs. 43.0%, p=0.048 and p<0.001) (AVD 37.5% vs. 49.3%, p<0.001). Overt obesity (BMI ≥ 30) was only more common in women with AVD (12.8% vs. 9.0%, p=0.005). Underweight (BMI<18.5) was generally more common in men with CHD (complex lesions 4.9% vs. 0.9%, p<0.001 and simple lesions 3.2% vs. 0.6%, <0.001). Men with complex lesions were shorter than controls in contrast to females that in general did not differ from controls. Higher prevalence of underweight in men with CHD combined with a lower prevalence of overweight/obesity in men with some complex lesions indicates that men with CHD in general has lower BMI compared to controls. In women, only limited differences between those with CHD and the controls were found. The complexity of the CHD had larger impact on height in men. The cause of these gender differences as well as possible significance for prognosis is unknown. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  12. Sight restoration after congenital blindness does not reinstate alpha oscillatory activity in humans.

    Science.gov (United States)

    Bottari, Davide; Troje, Nikolaus F; Ley, Pia; Hense, Marlene; Kekunnaya, Ramesh; Röder, Brigitte

    2016-01-01

    Functional brain development is characterized by sensitive periods during which experience must be available to allow for the full development of neural circuits and associated behavior. Yet, only few neural markers of sensitive period plasticity in humans are known. Here we employed electroencephalographic recordings in a unique sample of twelve humans who had been blind from birth and regained sight through cataract surgery between four months and 16 years of age. Two additional control groups were tested: a group of visually impaired individuals without a history of total congenital blindness and a group of typically sighted individuals. The EEG was recorded while participants performed a visual discrimination task involving intact and scrambled biological motion stimuli. Posterior alpha and theta oscillations were evaluated. The three groups showed indistinguishable behavioral performance and in all groups evoked theta activity varied with biological motion processing. By contrast, alpha oscillatory activity was significantly reduced only in individuals with a history of congenital cataracts. These data document on the one hand brain mechanisms of functional recovery (related to theta oscillations) and on the other hand, for the first time, a sensitive period for the development of alpha oscillatory activity in humans.

  13. Near-infrared spectroscopy as a predictor of clinical deterioration : A case report of two infants with duct-dependent congenital heart disease

    NARCIS (Netherlands)

    Mebius, Mirthe J.; Sarvaas, Gideon J. du Marchie; Wolthuis, Diana W.; Bartelds, Beatrijs; Kneyber, Martin C. J.; Bos, Arend F.; Kooi, Elisabeth M. W.

    2017-01-01

    Background: Some infants with congenital heart disease are at risk of in-hospital cardiac arrest. To better foresee cardiac arrest in infants with congenital heart disease, it might be useful to continuously assess end-organ perfusion. Near-infrared spectroscopy is a non-invasive method to

  14. Characterization of a t(5;8)(q31;q21) translocation in a patient with mental retardation and congenital heart disease: implications for involvement of RUNX1T1 in human brain and heart development

    DEFF Research Database (Denmark)

    Zhang, Litu; Tümer, Zeynep; Møllgård, Kjeld

    2009-01-01

    The chromosome break points of the t(8;21)(q21.3;q22.12) translocation associated with acute myeloid leukemia disrupt the RUNX1 gene (also known as AML1) and the RUNX1T1 gene (also known as CBFA2T3, MTG8 and ETO) and generate a RUNX1-RUNX1T1 fusion protein. Molecular characterization of the trans...... development and support the notion that disruption of the RUNX1T1 gene is associated with the patient's phenotype.European Journal of Human Genetics advance online publication, 28 January 2009; doi:10.1038/ejhg.2008.269....

  15. Cardiac resynchronization therapy in patients with challenging anatomy due to venous anomalies or adult congenital heart disease.

    Science.gov (United States)

    Niazi, Imran; Dhala, Anwer; Choudhuri, Indrajit; Sra, Jasbir; Akhtar, Masood; Tajik, Abdul Jamil

    2014-09-01

    Cardiac resynchronization therapy (CRT) has proven salutary effects in patients with congestive heart failure, systolic dysfunction, and electromechanical dyssynchrony in the setting of ischemic, nonischemic, and congenital cardiomyopathy. While CRT device implants have become routine in the adult ischemic or nonischemic cardiomyopathy populations, patients with congenital heart disease offer special challenges due to unusual anatomic variations. A comprehensive assessment of anatomic abnormalities is essential prior to implant. In addition, implant techniques and equipment must be tailored to the expected anatomy. A flexible approach is necessary-implant may require equipment and techniques adapted from vascular intervention. This article describes our approach to CRT implant in patients with congenital heart disease, and is illustrated by reports of several cases. ©2014 Wiley Periodicals, Inc.

  16. Monitoring for new multiple congenital anomalies in the search for human teratogens.

    Science.gov (United States)

    Khoury, M J; Botto, L; Waters, G D; Mastroiacovo, P; Castilla, E; Erickson, J D

    1993-06-01

    The ability of birth defects monitoring to detect new human teratogenic and mutagenic agents may be limited if only isolated defects are monitored. Surveillance for "new" multiple congenital anomalies (MCA) may improve the detection of environmental agents associated with new defect patterns. To evaluate the feasibility of such monitoring, we examined data from two programs: 1) the Metropolitan Atlanta Congenital Defects Program (MACDP), which ascertains infants with serious defects diagnosed in the first year of life, and, 2) the Italian Multicenter Register for Congenital Malformations (IPIMC), which ascertains newborn infants with birth defects from many hospitals in Italy. We focused on 24 relatively serious defects and defect groups. For a baseline period (MACDP: 1968-1988, 581,000 births; IPIMC: 1986-1989, 448,000 births), we identified all possible combinations of defects occurring in the same baby. For a test period (MACDP: 1989-1990, 77,000 births; IPIMC: 1990, 91,500 births), we identified babies with "new" MCA (i.e., combinations of defects not observed before in the system). During this period in MACDP, of the 85 babies with two or more defects, 9 babies had new MCAs. In IPIMC, of the 54 babies with two or more defects, 10 babies had new MCAs. A review of the records of infants with new MCAs in MACDP and IPIMC did not identify commonalities in maternal characteristics. This analysis illustrates the feasibility of monitoring for new MCAs in surveillance systems. This approach, complemented by an evaluation of exposures, may be a powerful additional tool in searching for human teratogens and mutagens.

  17. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.

    Science.gov (United States)

    Gelb, Bruce; Brueckner, Martina; Chung, Wendy; Goldmuntz, Elizabeth; Kaltman, Jonathan; Kaski, Juan Pablo; Kim, Richard; Kline, Jennie; Mercer-Rosa, Laura; Porter, George; Roberts, Amy; Rosenberg, Ellen; Seiden, Howard; Seidman, Christine; Sleeper, Lynn; Tennstedt, Sharon; Kaltman, Jonathan; Schramm, Charlene; Burns, Kristin; Pearson, Gail; Rosenberg, Ellen

    2013-02-15

    Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions are unknown for most patients. The National Heart, Lung, and Blood Institute-funded Pediatric Cardiac Genomics Consortium established the Congenital Heart Disease Genetic Network Study to investigate relationships between genetic factors, clinical features, and outcomes in CHD. The Pediatric Cardiac Genomics Consortium comprises 6 main and 4 satellite sites at which subjects are recruited, and medical data and biospecimens (blood, saliva, cardiovascular tissue) are collected. Core infrastructure includes an administrative/data-coordinating center, biorepository, data hub, and core laboratories (genotyping, whole-exome sequencing, candidate gene evaluation, and variant confirmation). Eligibility includes all forms of CHD. Annual follow-up is obtained for probands age is 5.5 years. The one third enrolled at age <1 year are contacted annually for follow-up information. The distribution of CHD favors more complex lesions. Approximately, 11% of probands have a genetic diagnosis. Adequate DNA is available from 97% and 91% of blood and saliva samples, respectively. Genomic analyses of probands with heterotaxy, atrial septal defects, conotruncal, and left ventricular outflow tract obstructive lesions are underway. The scientific community's use of Pediatric Cardiac Genomics Consortium resources is welcome.

  18. Outcome of infants with prenatally diagnosed congenital heart disease delivered outside specialist paediatric cardiac centres.

    Science.gov (United States)

    Anagnostou, Katherine; Messenger, Lisa; Yates, Robert; Kelsall, Wilf

    2013-05-01

    To determine the outcome of neonates with a suspected antenatal diagnosis of congenital heart disease (CHD) who were delivered away from a paediatric cardiothoracic centre and were initially managed in a level 3 Neonatal Intensive Care Unit. An 18-year ongoing study conducted in a single institution. Between 1992 and 2009, 143 fetuses with suspected CHD were identified, and 124 babies were delivered locally. 13 babies with a normal postnatal echocardiogram and six with isolated arrhythmias were excluded from the study. Structural CHD was confirmed in 105 infants; of these, 94 (90%) survived the neonatal period. Of the 11 neonatal deaths, only four of these infants underwent surgery; most had additional risk factors including: prematurity, very low birth weight, and genetic and other structural congenital anomalies. This study demonstrates that appropriately selected infants with antenatally diagnosed CHD can be safely delivered and initially managed in a non-cardiac centre during their neonatal period. Deliveries need to be carefully planned with close collaboration among neonatologists, obstetricians, paediatric cardiologists, mid-wives and parents.

  19. Adolescents with congenital heart disease: the importance of perceived parenting for psychosocial and health outcomes.

    Science.gov (United States)

    Luyckx, Koen; Goossens, Eva; Missotten, Lies; Moons, Philip

    2011-11-01

    : Little is known about how parenting relates to psychosocial functioning and health behavior in adolescents with congenital heart disease (CHD). Different parenting styles were identified through relying on adolescent perceptions of multiple dimensions (regulation, responsiveness, and psychological control). The degree to which parents were perceived as consistent in their rearing style was assessed. : Adolescents with CHD were selected from the database of pediatric and congenital cardiology of the University Hospitals Leuven; control individuals were recruited at secondary schools. A total of 429 adolescents (14-18 years) with CHD participated; 403 were matched on gender and age with control individuals. Adolescents completed questionnaires on maternal and paternal regulation, psychological control, and responsiveness. Main outcome measures were depressive symptoms, loneliness, quality of life, health status, alcohol, cigarette, and drug use. : No significant differences emerged between adolescents with CHD and controls in perceived parenting styles. Democratic parenting was accompanied by the most optimal pattern of outcomes in adolescents with CHD, whereas psychologically controlling parenting by the least optimal pattern. Overprotective parenting was related to high patient substance use. Perceiving both parents as democratic turned out most favorably for psychosocial functioning and quality of life, whereas parental consistency was unrelated to substance use in adolescents with CHD. : By building bridges between the fields of adolescent medicine and family studies, the present study generated important information on the role of parents in psychosocial and behavioral functioning of adolescents with CHD. Future longitudinal studies could inform family-based interventions for this population.

  20. 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.

  1. MRI of congenital heart disease in childhood; MR-Tomographie kongenitaler Herzvitien im Kindesalter

    Energy Technology Data Exchange (ETDEWEB)

    Weiss, F.; Habermann, C.R.; Adam, G. [Radiologisches Zentrum, Klinik und Poliklinik fuer Diagnostische und Interventionelle Radiologie, Universitaetsklinikum Hamburg-Eppendorf (Germany); Lilje, C.; Weil, J. [Klinik und Poliklinik fuer Kinder- und Jugendmedizin, Abt. Paediatrische Kardiologie, Universitaetsklinikum Hamburg-Eppendorf (Germany)

    2004-02-01

    MRI provides a non-invasive diagnostic tool complementing echocardiography on one hand, and showing advantages over echocardiography, on the other hand, especially after corrective procedures. The multiple different MRI sequences need to be adapted to examinations of children and patients with congenital heart disease (CHD), and can be used to detect morphologic changes, blood-flow in the heart and thoracic vessels and diastolic or systolic function of myocardium. Several factors determine the success of the examination of a complex congenital heart disease or a postoperative situs. Pediatric radiologists and radiologists experienced in congenital heart diseases have to work in close cooperation. Echocardiography should be performed before MRI. The results of prior examinations and the clinical history of the patients, including possible palliative or reconstructive operations, must be available before MRI to guide the planning of the examination. With a systematic segmental approach to the situs, to the atrial and ventricular morphology, and to the visceroatrial, atrioventricular and ventriculoarterial connections, most CHDs can be diagnosed correctly. With appropriate knowledge, MRI can also be performed quite accurately after complex operations and may avoid or delay invasive diagnostic procedures. The aim of this article is to impart knowledge, to mention problems and to provide guidance in the performance of cardiac MRI in patients with CHD. (orig.) [German] Die MRT bietet sich als nicht-invasive Methode zur Diagnostik kongenitaler Herzvitien im Kindesalter einerseits als Ergaenzung zur Echokardiographie an, andererseits ergeben sich auch Vorteile insbesondere nach Korrektureingriffen. Die verschiedenen MRT-Sequenzen muessen an die Untersuchung von Kindern adaptiert werden und koennen Aufschluss ueber die Morphologie, Blutfluesse im Herz und in den thorakalen Gefaessen und ueber die myokardiale Wandbewegung geben. Die sichere Durchfuehrung und Befundung der

  2. Aortic Valve Disease

    Science.gov (United States)

    ... Tricuspid Valve Disease Cardiac Rhythm Disturbances Thoracic Aortic Aneurysm Pediatric and Congenital Heart Disease Heart abnormalities that are ... Transplantation End-stage Lung Disease Adult Lung Transplantation Pediatric Lung ... Aortic Aneurysm Aortic Valve Disease Overview The human heart has ...

  3. Mycotic aneurysm and subarachnoid hemorrhage following tubercular meningitis in an infant with congenital tuberculosis and cytomegalovirus disease.

    Science.gov (United States)

    Gupta, Kirti; Radotra, Bishan Dass; Suri, Deepti; Sharma, Kusum; Saxena, Akshay Kumar; Singhi, Pratibha

    2012-10-01

    We describe autopsy findings in a 5-month-old infant with disseminated tuberculosis and congenital cytomegalovirus disease. The infant manifested with tubercular meningitis complicating as ruptured mycotic right middle cerebral artery aneurysm. Infiltrative, proliferative, and necrotizing vascular pathologies have been described; however, the occurrence of these is dependent on the duration of illness. The vessel pathology appears to be a payback of its immersion in the local inflammatory cell-rich exudates. Strokes early in the course of the disease are believed to be a consequence of vasospasm, and those occurring later during the disease course are due to proliferative intimal disease. Intracranial mycotic aneurysm following tubercular meningitis developing at such a young age has not been reported in the literature. The lung lesions in a congenitally transmitted tuberculosis and cytomegalovirus disease have also been elaborated.

  4. 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 o

  5. Atrial-based pacing has no benefit over ventricular pacing in preventing atrial arrhythmias in adults with congenital heart disease

    NARCIS (Netherlands)

    Opic, P.; Yap, S.C.; Kranenburg, M. van; Dijk, A.P.J. van; Budts, W.; Vliegen, H.W.; Erven, L. van; Can, A.; Sahin, G.; Groot, N.M. de; Witsenburg, M.; Roos-Hesselink, J.W.

    2013-01-01

    AIMS: To determine whether atrial-based pacing prevents atrial arrhythmias in adults with congenital heart disease (CHD) compared with ventricular pacing. METHODS AND RESULTS: All adult CHD patients from four participating centres with a permanent pacemaker were identified. Patients with permanent a

  6. Congenital Heart Disease With and Without Cyanotic Potential and the Long-term Risk of Diabetes Mellitus

    DEFF Research Database (Denmark)

    Madsen, Nicolas L; Marino, Bradley S; Woo, Jessica G

    2016-01-01

    BACKGROUND: Long-term survival for persons born with congenital heart disease (CHD) is improved, but limited knowledge exists of this growing population's acquired cardiovascular risk profile. This study's purpose was to assess CHD survivors' risk for type 2 diabetes mellitus (T2DM) with attention...

  7. "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…

  8. "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…

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

    NARCIS (Netherlands)

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

    2012-01-01

    BACKGROUND: 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. OBJECTIVES:

  10. Delivery of care for adult patients with congenital heart disease in Europe: Results from the Euro Heart Survey

    NARCIS (Netherlands)

    P. Moons (Philip); P.M. Engelfriet (Peter); H. Kaemmerer (Harald); F.J. Meijboom (Folkert); E.N. Oechslin (Erwin); B.J.M. Mulder (Barbara)

    2006-01-01

    textabstractAims: The increasing number of adults with congenital heart disease (CHD) has prompted the development of recommendations for the management of these patients and for the organization of their healthcare. The aim of this report is to describe the delivery of care in Europe for adults wit

  11. Systematic review of the effects of physical exercise training programmes in children and young adults with congenital heart disease.

    NARCIS (Netherlands)

    Duppen, N.; Takken, T.; Hopman, M.T.E.; Harkel, A.D. Ten; Dulfer, K.; Utens, E.M.; Helbing, W.A.

    2013-01-01

    BACKGROUND: Most patients with congenital heart disease (ConHD) do not perform regular physical exercise. Consensus reports have stated that exercise should be encouraged and regularly performed in these patients, but this is not common practise. We reviewed the literature on actual evidence for

  12. 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, K.; Duppen, N.; Blom, N.A.; Dijk, A.P.J. van; Helbing, W.A.; Verhulst, F.C.; Utens, E.M.

    2014-01-01

    OBJECTIVE: 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. METHODS:

  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, K.; Duppen, N.; Blom, N.A.; Dijk, A.P.J. van; Helbing, W.A.; Verhulst, F.C.; Utens, E.M.

    2014-01-01

    OBJECTIVE: 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. METHODS: Inclu

  14. The Comparison of Pulse Oximetry and Cardiac Catheterization in Managing the Treatment of Children with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    R Abbasi

    2015-03-01

    Full Text Available Bachground & aim: Pulse oximetry and cardiac catheterization are concerned in the treatment of children with congenital heart disease. Diagnosis of arterial oxygen saturation in patients with congenital heart disease (CHD can be used to assess and manage their effecacy. The purpose of this study was to compare pulse oximetry and cardiac catheterizations in treatment manage of children with congenital heart disease. Methods: In the present cross sectional study, 110 patients with cyanic and non syani heart disease were studied undergoing right and left heart catheterization by pulse oximetry of index finger and simultaneously, oxygen saturation was measured by cardiac catheterization. Data were analyzed with SPSS software by using Pearson correlation and linear regression. Results: A significant correlation was seen between arterial oxygen saturation measured by pulse oximetry and arterial oxygen saturation (p<0.0001 as well as heart rate, electrocardiogram and pulse oximetry (p<0.0001 respectively. Furthermore, the presence of cyanosis (p=0.001, digital clubbing of the fingers ((p=0.001, low oxygen saturation in the superior vena cava and right atrium (p=0.002 can reduce the accuracy of pulse oximetry for detection of arterial oxygen saturation. The mean right atrial pressure can effect on accuracy of pulse oximetry to detect heartbeat (p=0.034. Maximum sensitivity and specificity for detection of pulse oximetry oxygen saturation was 88 % and 88 heart rate per minute. Conclusion: Pulse oximetric is a useful tool for estimating the arterial oxygen saturation and heart rate in children with congenital heart disease (CHD and is a non-invasive method in comparison with cardiac catheterization. Key words: Pulse oximeter, Congenital Heart Disease, Cardiac Catheterization

  15. Clinical countermeasures against congenital heart disease in adults%成人先天性心脏病临床对策

    Institute of Scientific and Technical Information of China (English)

    徐仲英

    2013-01-01

    Congenital heart disease is common among the newborns, and the incidence rate is about 0. 8%. Over the past 30 years,great progress has been made in the diagnosis and treatment of congenital heart disease in children. As a result,many children with such diseases now survive to adulthood. In the United States alone, the population of adults with congenital heart disease, either surgically corrected or uncorrected, is estimated to be increasing at a rate of about 5 percent every year; in 2008 there had be almost 1 million such patients. Currently in China, although there is no statistical data of incidence of adult congenital heart disease,the number of such patients must be huge. This article discusses congenital heart disease from two aspects: acyanotic and cyanotic;and clinical countermeasures against each type will be described.%先天性心脏病比较常见的,在新生儿中发生率约0.8%.在过去的30年,儿童先天性心脏病诊断和治疗取得了巨大进步,许多孩子因此可以存活到成年.仅在美国,经矫治或未矫治的先天性心脏病成人数,预计将以每年约5%的速度增长,2008已达近100万例患者.中国还没有成人先天性心脏病的统计数据,但患者数目必须是巨大的.文章从紫绀型和紫绀型2个方面阐述常见成人先天性心脏病的临床对策.

  16. Congenital heart diseases: post-operative appearance on multi-detector CT - a pictorial essay

    Energy Technology Data Exchange (ETDEWEB)

    Tomasian, Anderanik; Malik, Sachin; Shamsa, Kamran; Krishnam, Mayil S. [UCLA Medical Center, Department of Radiological Science, Los Angeles, CA (United States)

    2009-12-15

    Echocardiography is considered as an initial imaging modality of choice in patients with congenital heart disease (CHD), and magnetic resonance (MR) imaging is preferred for detailed functional information. Multi-detector computed tomography (CT) plays an important role in clinical practice in assessing post-operative morphological and functional information of patients with complex CHD when echocardiography and MR imaging are not contributory. Radiologists should understand and become familiar with the complex morphology and physiology of CHD, as well as with various palliative and corrective surgical procedures performed in these patients, to obtain CT angiograms with diagnostic quality and promptly recognise imaging features of normal post-operative anatomy and complications of these complex surgeries. (orig.)

  17. Factors Influencing Adaptation and Performance at Physical Exercise in Complex Congenital Heart Diseases after Surgical Repair

    Directory of Open Access Journals (Sweden)

    P. P. Bassareo

    2014-01-01

    Full Text Available In the last thirty years, steady progress in the diagnostic tools and care of subjects affected by congenital heart diseases (CHD has resulted in a significant increase in their survival to adulthood, even for those affected by complex CHD. Based on these premises, a number of teenagers and adults affected by corrected (surgically or through interventional techniques CHD ask to be allowed to undertake sporting activities, both at a recreational and competitive level. The purpose of this review is to examine the mechanisms influencing the adaption at physical exercise of patients suffering from complex CHD. The conclusion is that even if there are some modest risks with exercise, they should be seen in perspective, and the life-long benefits of regular exercise on general health, mood, and well-being should be emphasized.

  18. Exogenous hormones and other drug exposures of children with congenital heart disease.

    Science.gov (United States)

    Rothman, K J; Fyler, D C; Goldblatt, A; Kreidberg, M B

    1979-04-01

    A history of oral contraceptive use, hormonal pregnancy tests, prescribed hormones and other drugs was obtained from 390 mothers of infants with congenital heart disease and 1254 mothers of normal infants in Massachusetts. The data show a small positive association between estrogen/progesterone exposure and cardiac malformation, the prevalence ratio estimate of exposed to non-exposed being 1.5 (90 per cent confidence limits are 1.0, 2.1). No association was evident, however, between hormones and trunco-conal or any other class of defect among the cases, an observation which casts doubt on a causal relationship betweem hormones and cardiovascular malformations. Several other drugs were reported more frequently by cases' mothers. These include: ampicillin; aspirin; a combined anti-nausea agent (doxylamine succinate, dicyclomine hydrochloride and pyridoxine hydrochloride); chlordiazopoxide, codeine, diazepam, diphenylhydantoin; insulin; phenobarbital; phenothiazine; phenylephrine; and tetracycline.

  19. Orthotropic heart transplantation for adult congenital heart disease: a case with heterotaxy and dextrocardia.

    Science.gov (United States)

    Matsuda, Hikaru; Fukushima, Norihide; Ichikawa, Hajime; Sawa, Yoshiki

    2017-01-01

    A 41-year-old male with heterotaxy (left isomerism) and dextrocardia composed by single ventricle, absent inferior vena cava, bilateral superior vena cava (SVC), common atrioventricular valve has received orthotopic heart transplantation (HTx) after long waiting period as Status-1. Reconstructions of bilateral SVC and hepatic vein route were successful without use of prosthetic material, and the donor heart was placed in the left mediastinum. In spite of satisfactory early recovery, the patient expired 4 months after transplantation mainly from fungal infection which developed following humoral rejection. HTx for adult patients with complex congenital heart disease is demanding in technical as well as pre- and post-transplant management, and indication should be critically determined.

  20. Mechanical Circulatory Support Devices for Pediatric Patients With Congenital Heart Disease.

    Science.gov (United States)

    Chopski, Steven G; Moskowitz, William B; Stevens, Randy M; Throckmorton, Amy L

    2017-01-01

    The use of mechanical circulatory support (MCS) devices is a viable therapeutic treatment option for patients with congestive heart failure. Ventricular assist devices, cavopulmonary assist devices, and total artificial heart pumps continue to gain acceptance as viable treatment strategies for both adults and pediatric patients as bridge-to-transplant, bridge-to-recovery, and longer-term circulatory support alternatives. We present a review of the current and future MCS devices for patients having congenital heart disease (CHD) with biventricular or univentricular circulations. Several devices that are specifically designed for patients with complex CHD are in the development pipeline undergoing rigorous animal testing as readiness experiments in preparation for future clinical trials. These advances in the development of new blood pumps for patients with CHD will address a significant unmet clinical need, as well as generally improve innovation of the current state of the art in MCS technology.

  1. MR and cine-MR imaging in the diagnosis of infantile congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    朱会英; 韩立新; 黄新华; 王霞

    2001-01-01

    目的评价磁共振成像(MRI)及电影磁共振成像(cine-MRI)在小儿先天性心脏病(简称先心病)中的诊断 价值。方法对34例先心患儿常规行横轴位、冠状位、矢状位成像,并根据诊断需要选择垂直于室间隔的长轴 位、短轴位及平行于室间隔的长轴位。在图像中选择感兴趣的层面做心脏cine-MRI,每个心动周期内采集 16-32帧图像,以动态观察心脏及大血管变化,并与二维超声心动图(2DE)、心血管造影(CAG)及手术结 果进行对照分析。 结果MRI测量6例左向右分流型先心病患儿缺损口或内径值与手术所见相吻合(P=0.924),与2DE呈 正相关(r=0.973),且MRI较2DE更接近手术实测值。MRI及cine-MRI诊断28例复杂型先心病,27例与 手术诊断相一致。 结论MRI能准确显示房、室间隔的缺损、动脉导管未闭部位及内径,cine-MRI能以电影的方式显示间隔 缺损的分流、心脏与大血管血流状况及畸形的病理形态。本组资料证实MRI及cine-MRI是一种安全、无 创的诊断小儿先天性心脏病的检查方法,有较大的临床应用价值。%Objective To assess the effectiveness of magnetic resonanceimaging (MRI) and cine magnetic resonance imaging (cine-MRI) in the diagnosis of infantile congenital heart disease. Methods A total of 34 cases were studied with MRI and cine-MRI. The data were analyzed and compared with those of two-dimensional echocardiography (2DE), cardioangiography (CAG) and surgery. Results The size of the defect or its caliber obtained from MRI in 6 patients with left to right shunt congenital heart disease was compatible with that observed in surgery (P=0.924). Comparison of cine-MRI and CAG in 28 patients with complicated congenital heart disease showed that the diagnosis of 27 cases by cine-MRI was the same as that by CAG. Conclusion Both MRI and cine-MRI play an important role in diagnosing infantile congenital heart disease.

  2. Is Pulse Oximetry Useful for Screening Neonates for Critical Congenital Heart Disease at High Altitudes?

    Science.gov (United States)

    Hoffman, Julien I E

    2016-06-01

    Now that pulse oximetry is used widely to screen for critical congenital heart disease, it is time to consider whether this screening method is applicable to those who live at high altitudes. Consideration of basic physical principles and reports from the literature indicate that not only is the 95 % cutoff point for arterial oxygen saturation incorrect at high altitudes, but the lower saturations are accompanied by greater variability and therefore there is the possibility of a greater percentage of false-positive screening tests at high altitudes. Because of ethnic differences in response to high altitudes, normative data will have to be collected separately in different countries and perhaps for different ethnic groups.

  3. ALTERATIONS IN FREQUENCY OF ULNAR LOOPS AND ‘ATD’ ANGLE IN CONGENITAL HEART DISEASE

    Directory of Open Access Journals (Sweden)

    Jaywant

    2016-01-01

    Full Text Available INTRODUCTION Dermatoglyphics is a scientific study of epidermal ridge configuration on palm, soles and fingertips valuable for medico legal and genetic investigations. Dermatoglyphics form in utero during early gestation and may be influenced by genetic and environmental factors operating at that time. Present investigation was undertaken to study alterations in dermatoglyphic patterns with special reference to various congenital heart diseases (CHD. The study involved 102 cases of CHD and 100 cases of normal individuals. It was observed that percent frequency of ulnar loops significantly increased in CHD group as compared to control group. Mean 'atd' angle was also increased in CHD group as compared to control group indicating distal displacement of palmar axial triradius (t. Thus, rise in frequency of ulnar loops and increase in 'atd' angle can be considered as one of the diagnostic criteria for CHD.

  4. Multiorgan Involvement Confounding the Diagnosis of Bartonella henselae Infective Endocarditis in Children With Congenital Heart Disease.

    Science.gov (United States)

    Ouellette, Christopher P; Joshi, Sarita; Texter, Karen; Jaggi, Preeti

    2017-05-01

    Two children with congenital heart disease status post surgical correction presented with prolonged constitutional symptoms, hepatosplenomegaly and pancytopenia. Concern for malignancy prompted bone marrow biopsies that were without evidence thereof. In case 1, echocardiography identified a multilobulated vegetation on the conduit valve. In case 2, transthoracic, transesophageal and intracardiac echocardiography were performed and were without evidence of cardiac vegetations; however, pulmonic emboli raised concern for infective endocarditis. Both patients underwent surgical resection of the infected material and had histopathologic evidence of infective endocarditis. Further diagnostics identified elevated cytoplasmic antineutrophil cytoplasmic antibodies and antiproteinase 3 antibodies in addition to acute kidney injury with crescentic glomerulonephritis on renal biopsy. Serologic evidence of infection with Bartonella henselae was observed in both patients. These 2 cases highlight the potential multiorgan involvement that may confound the diagnosis of culture-negative infective endocarditis caused by B. henselae.

  5. Cellular and molecular basis of RV hypertrophy in congenital heart disease.

    Science.gov (United States)

    Iacobazzi, D; Suleiman, M-S; Ghorbel, M; George, S J; Caputo, M; Tulloh, R M

    2016-01-01

    RV hypertrophy (RVH) is one of the triggers of RV failure in congenital heart disease (CHD). Therefore, improving our understanding of the cellular and molecular basis of this pathology will help in developing strategic therapeutic interventions to enhance patient benefit in the future. This review describes the potential mechanisms that underlie the transition from RVH to RV failure. In particular, it addresses structural and functional remodelling that encompass contractile dysfunction, metabolic changes, shifts in gene expression and extracellular matrix remodelling. Both ischaemic stress and reactive oxygen species production are implicated in triggering these changes and will be discussed. Finally, RV remodelling in response to various CHDs as well as the potential role of biomarkers will be addressed.

  6. Interventional and surgical treatment of cardiac arrhythmias in adults with congenital heart disease.

    Science.gov (United States)

    Koyak, Zeliha; de Groot, Joris R; Mulder, Barbara J M

    2010-12-01

    Arrhythmias are a major cause of morbidity, mortality and hospital admission in adults with congenital heart disease (CHD). The etiology of arrhythmias in this population is often multifactorial and includes electrical disturbances as part of the underlying defect, surgical intervention or hemodynamic abnormalities. Despite the numerous existing arrhythmia management tools including drug therapy, pacing and ablation, management of arrhythmias in adults with CHD remains difficult and challenging. Owing to improvement in mapping and ablation techniques, ablation and arrhythmia surgery are being performed more frequently in adults with CHD. However, there is little information on the long-term results of these treatment strategies. The purpose of this article is therefore to review the available data on nonpharmacological treatment of cardiac arrhythmias in adult patients with CHD and to give an overview of the available data on the early and late outcomes of these treatment strategies.

  7. Brain Dysplasia Associated with Ciliary Dysfunction in Infants with Congenital Heart Disease.

    Science.gov (United States)

    Panigrahy, Ashok; Lee, Vincent; Ceschin, Rafael; Zuccoli, Giulio; Beluk, Nancy; Khalifa, Omar; Votava-Smith, Jodie K; DeBrunner, Mark; Munoz, Ricardo; Domnina, Yuliya; Morell, Victor; Wearden, Peter; Sanchez De Toledo, Joan; Devine, William; Zahid, Maliha; Lo, Cecilia W

    2016-11-01

    To test for associations between abnormal respiratory ciliary motion (CM) and brain abnormalities in infants with congenital heart disease (CHD) STUDY DESIGN: We recruited 35 infants with CHD preoperatively and performed nasal tissue biopsy to assess respiratory CM by videomicroscopy. Cranial ultrasound scan and brain magnetic resonance imaging were obtained pre- and/or postoperatively and systematically reviewed for brain abnormalities. Segmentation was used to quantitate cerebrospinal fluid and regional brain volumes. Perinatal and perioperative clinical variables were collected. A total of 10 (28.5%) patients with CHD had abnormal CM. Abnormal CM was not associated with brain injury but was correlated with increased extraaxial cerebrospinal fluid volume (P dysplasia including the hippocampus (P dysplasia score (P dysplasia. These findings suggest that ciliary defects may play a role in brain dysplasia in patients with CHD and have the potential to prognosticate neurodevelopmental risks. Copyright © 2016 Elsevier Inc. All rights reserved.

  8. A Post-operative Feeding Protocol to Improve Outcomes for Neonates With Critical Congenital Heart Disease.

    Science.gov (United States)

    Newcombe, Jennifer; Fry-Bowers, Eileen

    2017-01-04

    Neonates with critical congenital heart disease (CCHD) are vulnerable to malnutrition during the post-operative period due to hypermetabolism and hypercatabolism. To improve nutritional outcomes during hospitalization, a nurse led post-operative enteral feeding protocol was implemented at a large U.S. children's hospital. During an eight-month implementation period, twenty-one neonates met protocol inclusion criteria. Days for neonates to achieve goal caloric feedings (120kcal/kg/day) were decreased. A one-way repeated measures analysis of variance showed serum albumin levels and serial anthropometric measurements improved significantly throughout hospitalization (ppost-operative period is an effective way to improve nutritional outcomes and shorten length of hospital stay.

  9. Managing the Morbidity Associated with Respiratory Viral Infections in Children with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Joseph M. Geskey

    2012-01-01

    Full Text Available Children with congenital heart disease (CHD are at risk for increased morbidity from viral lower respiratory tract infections because of anatomical cardiac lesions than can worsen an already compromised respiratory status. Respiratory syncytial virus (RSV remains an important pathogen in contributing toward the morbidity in this population. Although the acute treatment of RSV largely remains supportive, the development of monoclonal antibodies, such as palivuzumab, has reduced the RSV-related hospitalization rate in children with CHD. This review highlights the specific cardiac complications of RSV infection, the acute treatment of bronchiolitis in patients with CHD, and the search for new therapies against RSV, including an effective vaccine, because of the high cost associated with immunoprophylaxis and its lack of reducing RSV-related mortality.

  10. 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...

  11. A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation.

    Science.gov (United States)

    Mutesa, Leon; Jamar, Mauricette; Hellin, Anne Cecile; Pierquin, Genevieve; Bours, Vincent

    2012-09-01

    While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes.

  12. A new 48, XXYY/47, XYY syndrome associated with multiple skeletal abnormalities, congenital heart disease and mental retardation

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    Leon Mutesa

    2012-01-01

    Full Text Available While the XYY and XXYY syndromes have been several time described in patients, the combination of both syndromes in an individual is a rare event and may result in a severe phenotype. In the present observation, a boy with congenital scoliosis due to segmented thoracic hemivertebra associated with radioulnar synostosis and congenital heart disease is described. Chromosome G-banding and FISH analysis demonstrated a de novo mosaic karyotype 48, XXYY/47, XYY in this patient. To the best of our knowledge, this is the first report of a combination of XYY and XXYY syndromes.

  13. Evolving hybrid approaches: the preservation of the 'neglected' pulmonary valve function in patients with congenital heart disease.

    Science.gov (United States)

    Vida, Vladimiro L; Bacha, Emile; Stellin, Giovanni

    2016-07-01

    The involvement of the hemodynamic expertise in the operating room led to the development of new strategies aimed to improve both early and long-term outcome of patients with congenital heart disease. During the last decade, with the aim of preserving the pulmonary valve function, we embarked on a new surgical approach, which combines surgical and interventional techniques, which are performed in the operating room. We believe that the preservation of the pulmonary valve function can be extended to any patients with classic tetralogy of Fallot and other selected patients with congenital pulmonary valve hypoplasia and dysfunction.

  14. Functional Capacity in Congenital Heart Disease: A Systematic Review and Meta-Analysis

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    Camila Wohlgemuth Schaan

    2017-09-01

    Full Text Available Abstract Background: Children and adolescents with congenital heart disease often have alterations in their exercise capacity that can be evaluated by various functional testing. Objective: To evaluate the functional capacity of children and adolescents with congenital heart disease (CHD with systematic review and meta-analyses. Methods: The review included observational studies, data from the first evaluation of randomized clinical trials or observational follow-up periods after clinical trials which evaluated functional capacity by cardiopulmonary exercise test, stress testing, six-minute walk test or step test, in children and adolescents with CHD, aged between six and 18 years, and comparisons with healthy controls in the same age group. The quantitative assessment was performed by meta-analysis, by comparing the maximal oxygen consumption (VO2max of children and adolescents with CHD and respective control groups. Results: Twenty-five of 2.683 studies identified in the search met the inclusion criteria. The VO2max measurement showed that patients with CHD have a decrease of 9.31 ml/Kg/min (95% CI. -12.48 to -6.13; I2, 94.3%, P for heterogeneity < 0.001 compared with the control group. The meta-analysis of the data of maximum heart rate (HR reached during cardiopulmonary test and stress testing, retrieved from 18 studies, showed a HR value of -15.14 bpm (95% CI. -20.97 to -9.31; I2, 94.3%, P for heterogeneity < 0.001 compared with the control group. Conclusion: Children and adolescents with CHD have lower VO2max and HR compared to controls.

  15. Clinically silent preoperative brain injuries do not worsen with surgery in neonates with congenital heart disease.

    Science.gov (United States)

    Block, A J; McQuillen, P S; Chau, V; Glass, H; Poskitt, K J; Barkovich, A J; Esch, M; Soulikias, W; Azakie, A; Campbell, A; Miller, S P

    2010-09-01

    Preoperative brain injury, particularly stroke and white matter injury, is common in neonates with congenital heart disease. The objective of this study was to determine the risk of hemorrhage or extension of preoperative brain injury with cardiac surgery. This dual-center prospective cohort study recruited 92 term neonates, 62 with transposition of the great arteries and 30 with single ventricle physiology, from 2 tertiary referral centers. Neonates underwent brain magnetic resonance imaging scans before and after cardiac surgery. Brain injury was identified in 40 (43%) neonates on the preoperative magnetic resonance imaging scan (median 5 days after birth): stroke in 23, white matter injury in 21, and intraventricular hemorrhage in 7. None of the brain lesions presented clinically with overt signs or seizures. Preoperative brain injury was associated with balloon atrial septostomy (P = .003) and lowest arterial oxygen saturation (P = .007); in a multivariable model, only the effect of balloon atrial septostomy remained significant when adjusting for lowest arterial oxygen saturation. On postoperative magnetic resonance imaging in 78 neonates (median 21 days after birth), none of the preoperative lesions showed evidence of extension or hemorrhagic transformation (0/40 [95% confidence interval: 0%-7%]). The presence of preoperative brain injury was not a significant risk factor for acquiring new injury on postoperative magnetic resonance imaging (P = .8). Clinically silent brain injuries identified preoperatively in neonates with congenital heart disease, including stroke, have a low risk of progression with surgery and cardiopulmonary bypass and should therefore not delay clinically indicated cardiac surgery. In this multicenter cohort, balloon atrial septostomy remains an important risk factor for preoperative brain injury, particularly stroke. 2010 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.

  16. Unenhanced steady state free precession versus traditional MR imaging for congenital heart disease

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    Chang, Dandan, E-mail: chchsister@163.com [Department of Diagnostic Radiology, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong (China); Kong, Xiangquan, E-mail: kxq0525@126.com [Department of Radiology, the Affiliated Union Hospital, Huazhong University of Science and Technology, Wuhan, Hubei (China); Zhou, Xuhui, E-mail: xiaolintongqq@126.com [Department of Diagnostic Radiology, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong (China); Li, Shurong, E-mail: 80917333@qq.com [Department of Diagnostic Radiology, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong (China); Wang, Huanjun, E-mail: 463822507@qq.com [Department of Diagnostic Radiology, the First Affiliated Hospital of Sun Yat-Sen University, Guangzhou, Guangdong (China)

    2013-10-01

    Purpose: To assess potential benefits of three dimensional (3D) steady state free precession (SSFP) magnetic resonance sequence for congenital heart disease (CHD). Materials and methods: Twenty consecutive patients with CHD (male:female ratio,14:6, mean age, 27.5 ± 8.5 years) underwent both 3D SSFP and traditional MR imaging (TMRI) [including two dimensional (2D) SSFP and contrast enhanced magnetic resonance angiography (CEMRA)]. Image quality and diagnosis were compared, and Bland–Altman analysis was used to evaluate consistency of 3D SSFP and CEMRA for diameter measurements. Results: A total of 35 intra and 81 extra cardiac anomalies were identified in all patients. The image quality of 3D SSFP and TMRI for either intra or extra cardiac anomalies of all patients scored ≥3, which allowed an establishment of diagnosis for all cases. The diagnostic sensitivity, specificity, and accuracy of 3D SSFP for the detection of intra cardiac anomalies were all 100%, whereas for extra cardiac anomalies they were 93.8%, 93.8%, 100%, respectively. Mean differences (3D SSFP minus CEMRA) for aorta and pulmonary arteries were 0.5 ± 1.2 mm and 0.0 ± 1.7 mm, respectively, showing good consistency of 3D SSFP and CEMRA for diameter measurements. Conclusion: 3D SSFP MRI can be an alternative image modality to TMRI for patients with congenital heart disease, especially for those who have renal insufficiency, breath-hold difficulty or who are allergic to contrast agent. It can also provide powerful complementary information for patients who undergo TMRI, especially at ventriculoarterial connection site.

  17. Contrast-enhanced MR angiography of cavopulmonary connections in adult patients with congenital heart disease.

    Science.gov (United States)

    Wagner, Moritz; Nguyen, Kim-Lien; Khan, Sarah; Mirsadraee, Saeed; Satou, Gary M; Aboulhosn, Jamil; Finn, J Paul

    2012-11-01

    The purpose of this study is to evaluate combined time-resolved and high-spatial resolution contrast-enhanced MR angiography (MRA) for assessment of cavopulmonary connections in adult patients with congenital heart disease. Twenty-eight adults with various surgical cavopulmonary connections (Glenn shunt and Fontan connection) underwent high-spatial-resolution contrast-enhanced MRA (voxel size, 1.95 mm(3); temporal resolution, 22 seconds) and time-resolved contrast-enhanced MRA (voxel size, 6.5-9.3 mm(3); temporal resolution, contrast-enhanced MRA) and pulmonary artery (PA) perfusion patterns (using time-resolved contrast-enhanced MRA). High-spatial-resolution contrast-enhanced MRA yielded diagnostic-quality images for morphologic assessment of cavopulmonary connections in 27 of 28 (96%) patients. The anatomic dimensions (cross-sectional area) of the PA and cavopulmonary connections showed a wide variation (right PA, 0.99-5.67 cm(2); left PA, 0.80-5.69 cm(2); Glenn shunt, 0.93-6.94 cm(2); and Fontan connection, 1.25-6.67 cm(2)). The anatomic dimensions could be assessed with excellent interobserver agreement on high-spatial-resolution contrast-enhanced MRA (r = 0.895). Time-resolved contrast-enhanced MRA yielded diagnostic-quality images in all patients and enabled characterization of PA perfusion via the superior vena cava as follows: preferential inflow to the right PA (n = 12), preferential inflow to the left PA (n = 5), and balanced inflow to the right and left PA (n = 11). In those patients who had technically successful flow quantification measurements, phase contrast data confirmed patency of the cavopulmonary connections. Combined time-resolved contrast-enhanced MRA and high-spatial-resolution contrast-enhanced MRA allowed detailed morphologic and dynamic evaluation of cavopulmonary connections in adult patients with congenital heart disease. A wide variation in anatomic dimensions and perfusion patterns was confidently identified in this patient population.

  18. Alterations in antioxidant and oxidant status of children after on-pump surgery for cyanotic and acyanotic congenital heart diseases.

    Science.gov (United States)

    Altin, Firat H; Yildirim, Hayriye A; Tanidir, Ibrahim C; Yildiz, Okan; Kahraman, Meliha Z; Ozturk, Erkut; Celebi, Sinem B; Kyaruzi, Mugisha; Bakir, İhsan

    2017-03-01

    Oxidative stress refers to an imbalance between reactive oxidative species and antioxidants. In this case-controlled, prospective, observational study, we investigated the total oxidant status, total antioxidant status, oxidative stress index, and albumin and C-reactive protein levels of children with cyanotic and acyanotic congenital heart diseases who had undergone on-pump cardiac surgery. The study groups consisted of 60 patients with congenital heart disease, who were operated under cardiopulmonary bypass, and a control group of 30 healthy individuals. The patients were classified into two groups. Among them, one was a patient group that consisted of 30 patients with acyanotic congenital heart disease and the other group consisted of 30 patients with cyanotic congenital heart disease. In the patient groups, blood samples were collected before surgery and at one and 24 hours following surgery. In control groups, blood samples were collected once during hospital admission. No statistically significant differences were found between the groups in terms of baseline total oxidant status, total antioxidant status, and oxidative stress index values. Regarding the postoperative first-hour and 24-hour total oxidant status and total antioxidant status levels as well as oxidative stress index values, there were no significant differences between the groups, except for an increase in total antioxidant status levels (p=0.002) 24 hours after surgery in cyanotic patients. There was no difference between oxidative stress status of cyanotic and acyanotic congenital heart disease patients and healthy individuals. Oxidative stress status of cyanotic and acyanotic patients does not change after cardiac surgery under cardiopulmonary bypass.

  19. [Management of heart diseases in pregnancy: rheumatic and congenital heart disease, myocardial infarction and post partum cardiomyopathy].

    Science.gov (United States)

    Westhoff-Bleck, M; Hilfiker-Kleiner, D; Günter, H H; Schieffer, E; Drexler, H

    2008-07-01

    Heart disease is present in 0.5-1% of all pregnancies. It is the leading non-obstetric cause of maternal mortality accounting for about 10-15% of all maternal death. Over the last decades the underlying cardiac disease has changed. Also new therapeutic options have been developed. In western industrial countries the incidence of acquired rheumatic heart disease has declined. In contrast, as a result of neonatal corrective or palliative surgery, congenital heart disease has become an increasing and challenging problem. Maternal older age and the increase in women's smoking habits amplify the likelihood of coronary artery disease. Multiple therapeutic options including percutaneous interventions are available and novel therapeutic concepts are emerging i.e. for peripartum cardiomyopathy. Management of pregnancy, labor and delivery requires accurate diagnosis of the underlying cardiac disorder. Hemodynamic changes physiologically occurring during pregnancy have a different impact depending on the type and severity of cardiac anomalies. Management of these patients requires teamwork of obstetricians, neonatologists, cardiologists, anesthetists and sometimes cardiac surgeons.

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

    Directory of Open Access Journals (Sweden)

    Yu-Sheng Lee

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

  1. [Endemic level of congenital Trypanosoma cruzi infection in the areas of maternal residence and the development of congenital Chagas disease in Bolivia].

    Science.gov (United States)

    Torrico, Faustino; Alonso-Vega, Cristina; Suarez, Eduardo; Rodríguez, Patricia; Torrico, Mary-Cruz; Dramaix, Michele; Truyens, Carine; Carlier, Yves

    2005-01-01

    In Bolivia, the prevalence of infection by T. cruzi in women in fertile age can vary between 20 and 60%. The present study made in the Maternity Germin Urquidi of Cochabamba - Bolivia, it has demonstrated, that 19.9% of the mothers who go to this hospitable center to be taken care of in the childbirth, they are carrying of the infection and that 4,6% of them, they are going to transmit, by transplacentaria route, the infection to its babies. Of the 71 children born with congenital Chagas, only 47,8 % present/display some type of alteration or of development(Apgar to 1 minute low, BPN, prematuridad, pathological dismadurez) or signs (SDR, hepatomegalia, esplenomegalia, neurological signs, cardiomegalia, anasarca, petequias). When investigating the effect of the differences in the vectorial density (low, medium and high) of the zone of maternal residence, on the transmission of the infection of the mother infected to the fetus, we concluded that the rate of transmission of the congenital infection of T. cruzi is not modified by the level of endemicidad of the zone of maternal residence. By another infected new born sides whose mothers reside in zones of high endemicidad present/display, most frequently and of significant way, Apgar to 1 minute prematuridad or an association of these alterations with respiratory syndrome of distress or anasarca, when one compares them with new born of resident mothers in the zones of loss or medium endemicidad, mortality in this group is greater. These results suggest calls to account it of the mothers, in areas of high endemicidad, she is associate with a serious increase in the risk of Disease of newborn severe and mortal congenital Chagas in.

  2. [Congenital aniridia].

    Science.gov (United States)

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  3. Measles, mumps, rubella, and human parvovirus B19 infections and neurologic disease.

    Science.gov (United States)

    Bale, James F

    2014-01-01

    While the systemic disorders associated with measles, mumps, and rubella viruses and human parvovirus B19 tend to be mild, each virus can produce potentially life-threatening neurologic disease in human hosts, especially when these viruses infect young children. Two of the viruses, rubella and parvovirus B19, can be vertically transmitted to fetuses during maternal infection and cause congenital infection. Neurologic complications are common after intrauterine infection with the rubella virus, a condition known as the congenital rubella syndrome. Two, measles and rubella viruses, can induce "slow viral" infections, serious, disorders that can occur several years after the initial exposure to the virus and typically have fatal outcomes.

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

    OpenAIRE

    Silversides, Candice K.; Bradley, Timothy; Colman, Jack; Connelly, Michael; Harris, Louise; Khairy, Paul; Mital, Seema; Niwa, Koichiro; Oechslin, Erwin; Poirier, Nancy; Schwerzmann, Markus; Taylor, Dylan; Muhll, Isabelle Vonder; Baumgartner, Helmut; Benson, Lee

    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 their cardiac disease can be associated with pulmonary hypertension, thromboemboli, complex arrhythmias and sudden death. Medical aspects that need to be considered relate to the long-term and mul...

  5. Interactions between Cytokines, Congenital Anomalies of Kidney and Urinary Tract and Chronic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Ana Cristina Simões e Silva

    2013-01-01

    Full Text Available Fetal hydronephrosis is the most common anomaly detected on antenatal ultrasound, affecting 1–5% of pregnancies. Postnatal investigation has the major aim in detecting infants with severe urinary tract obstruction and clinically significant urinary tract anomalies among the heterogeneous universe of patients. Congenital uropathies are frequent causes of pediatric chronic kidney disease (CKD. Imaging techniques clearly contribute to this purpose; however, sometimes, these exams are invasive, very expensive, and not sufficient to precisely define the best approach as well as the prognosis. Recently, biomarkers have become a focus of clinical research as potentially useful diagnostic tools in pediatric urological diseases. In this regard, recent studies suggest a role for cytokines and chemokines in the pathophysiology of CAKUT and for the progression to CKD. Some authors proposed that the evaluation of these inflammatory mediators might help the management of postnatal uropathies and the detection of patients with high risk to developed chronic kidney disease. Therefore, the aim of this paper is to revise general aspects of cytokines and the link between cytokines, CAKUT, and CKD by including experimental and clinical evidence.

  6. Clinical and psychological characteristics predict future healthcare use in adults with congenital heart disease.

    Science.gov (United States)

    Schoormans, Dounya; Sprangers, Mirjam A G; van Melle, Joost P; Pieper, Petronella G; van Dijk, Arie P J; Sieswerda, Gertjan T J; Hulsbergen-Zwarts, Mariët S; Plokker, Thijs Hwm; Brunninkhuis, Leo G H; Vliegen, Hubert W; Mulder, Barbara J M

    2016-02-01

    To deliver adequate care to patients with congenital heart disease (CHD), it is important to know which patients use what type of care. This knowledge is valuable, as modification of these factors may be used as means to regulate healthcare use. Our objective was to examine the predictive value of psychological characteristics for future healthcare use, independent of clinical characteristics. In total 845 adult CHD-patients participated in a longitudinal questionnaire study, with a two-year follow-up period. Linear regression analyses with negative binomial log link function were performed predicting healthcare used during the previous year. Psychological predictors were Type D personality, quality of life (QoL), depressive symptoms, trait-anxiety, happiness, optimism, and illness perceptions, independent of the number of co-morbidities, disease complexity and functional status. To control for clustering we included the variable type of centre (regional versus tertiary referral). Patients who reported more healthcare use had a complex defect, a poor functional status, no Type D personality, and a poor QoL. They moreover felt their CHD had a severe impact on their life and believed their CHD could be managed by themselves or treatment. Healthcare use is not entirely determined by disease complexity and functional status but also by psychological patient characteristics. It can by hypothesised that reducing the negative impact experienced and informing patients about strategies to manage their CHD, will modify their future healthcare use. Additional research is necessary to examine this possibility. © The European Society of Cardiology 2014.

  7. The Relationship between Parental Rearing Behavior, Resilience, and Depressive Symptoms in Adolescents with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Ju Ryoung Moon

    2017-09-01

    Full Text Available ObjectivesParental rearing behavior is one factor that influences the strength of resilience. In turn, resilience influences depression. However, it is unclear whether resilience has a mediating effect on the relationship between parental rearing and depression in adolescents with congenital heart disease (CHD. Therefore, the associations between parental rearing behavior and resilience and between rearing behavior and symptoms of depression were investigated with respect to age, gender and disease severity.Subjects and methodsPatients completed a parental rearing behavior questionnaire, a resilience scale and the Children’s Depression Inventory during a routine clinic visit. Structural equation modeling with maximum likelihood estimation was used to analyze the data.ResultsThe median age of the 180 patients included in the study was 17.8 years, and 64% were male. Lower resilience was found to be associated with overprotection, punishment, rejection, and control. There was a strong relationship between resilience and symptoms of depression. Resilience varied according to gender, age group, and disease severity.ConclusionParental rearing behaviors such as emotional warmth, rejection, punishment, control, and overprotection have a significant influence on adolescent’s resilience. When developing intervention programs to increase resilience and reduce depression in adolescents with CHD, parenting attitudes, gender, age, and CHD severity should be considered.

  8. Atlas-Based Ventricular Shape Analysis for Understanding Congenital Heart Disease.

    Science.gov (United States)

    Farrar, Genevieve; Suinesiaputra, Avan; Gilbert, Kathleen; Perry, James C; Hegde, Sanjeet; Marsden, Alison; Young, Alistair A; Omens, Jeffrey H; McCulloch, Andrew D

    2016-12-01

    Congenital heart disease is associated with abnormal ventricular shape that can affect wall mechanics and may be predictive of long-term adverse outcomes. Atlas-based parametric shape analysis was used to analyze ventricular geometries of eight adolescent or adult single-ventricle CHD patients with tricuspid atresia and Fontans. These patients were compared with an "atlas" of non-congenital asymptomatic volunteers, resulting in a set of z-scores which quantify deviations from the control population distribution on a patient-by-patient basis. We examined the potential of these scores to: (1) quantify abnormalities of ventricular geometry in single ventricle physiologies relative to the normal population; (2) comprehensively quantify wall motion in CHD patients; and (3) identify possible relationships between ventricular shape and wall motion that may reflect underlying functional defects or remodeling in CHD patients. CHD ventricular geometries at end-diastole and end-systole were individually compared with statistical shape properties of an asymptomatic population from the Cardiac Atlas Project. Shape analysis-derived model properties, and myocardial wall motions between end-diastole and end-systole, were compared with physician observations of clinical functional parameters. Relationships between altered shape and altered function were evaluated via correlations between atlas-based shape and wall motion scores. Atlas-based shape analysis identified a diverse set of specific quantifiable abnormalities in ventricular geometry or myocardial wall motion in all subjects. Moreover, this initial cohort displayed significant relationships between specific shape abnormalities such as increased ventricular sphericity and functional defects in myocardial deformation, such as decreased long-axis wall motion. These findings suggest that atlas-based ventricular shape analysis may be a useful new tool in the management of patients with CHD who are at risk of impaired ventricular

  9. The perspective of patients with congenital heart disease: does health care meet their needs?

    Science.gov (United States)

    Schoormans, Dounya; Sprangers, Mirjam A G; Pieper, Petronella G; van Melle, Joost P; van Dijk, Arie P J; Sieswerda, Gertjan Tj; Hulsbergen-Zwarts, Mariët S; Plokker, Thijs H W M; Brunninkhuis, Leo G H; Vliegen, Hubert W; Mulder, Barbara J M

    2011-01-01

    A first step in the delivery of tailored care is answering the following question: does health care meet the needs of patients? Therefore patients' perspective on health care use and their needs was examined. The design used was cross-sectional questionnaire study. A total of 1109 adult congenital heart defect (CHD) patients attending one of eight Dutch hospitals were randomly selected from a national database (10% of all registered patients). Patient reported questionnaires on in- and outpatient health care use during the past year and need for additional care. A total of 66% and 40% of patients had contact with their cardiologist and general practitioner, respectively. Six to 10 percent were hospitalized, operated upon, or visited the emergency room. For the majority, the amount of contact was sufficient. Most patients indicated that the communication skills and expertise of the cardiologist and general practitioner were sufficient, and health care improvements were not necessary. Frequent health care users had a poor functional status and frequent contact with their cardiologist and general practitioner. Patients who want more contact with their cardiologist rated the communication skills of the cardiologist as insufficient. For most patients, the amount and quality of care are both sufficient. Patients who rate the communication skills of the cardiologist as insufficient have need more contact. In addition to the recommended training program as described in the American College of Cardiology/American Heart Association (ACC/AHA) and European Society of Cardiology (ESC) guidelines, we recommend the incorporation of communication training. This is the first study to provide insight into health care use and needs of CHD patients in countries with a compulsory health insurance system from the patient perspective. © 2011 Copyright the Authors. Congenital Heart Disease © 2011 Wiley Periodicals, Inc.

  10. Is advanced maternal age a risk factor for congenital heart disease?

    Science.gov (United States)

    Best, Kate E; Rankin, Judith

    2016-06-01

    Studies have reported that advanced maternal age is a risk factor for congenital heart disease (CHD), but none of these have been performed in the United Kingdom. Currently, women in the United Kingdom are not referred for specialist fetal echocardiography based on maternal age alone. The aim of this study is to examine the association between maternal age at delivery and CHD prevalence in the North of England. Singleton cases of CHD notified to the Northern Congenital Abnormality Survey and born between January 1, 1998, to December 31, 2013, were included. Cases with chromosomal anomalies were excluded. The relative risk (RR) of CHD according to maternal age at delivery was estimated using Poisson regression. There were 4024 singleton cases of nonchromosomal CHD, giving a prevalence of 8.1 (95% confidence interval [CI], 7.8-8.3) per 1000 live and stillbirths. There was no association between maternal age at delivery and CHD prevalence (p = 0.97), with no evidence of an increased risk of CHD in mothers aged ≥35 compared to aged 25 to 29 (RR = 0.99; 95% CI, 0.89-1.09). There were no significant associations between maternal age at delivery and severity III CHD (p = 0.84), severity II CHD (p = 0.74), or severity I CHD (p = 0.66), although there was a slight increased risk of severity I CHD in mothers aged ≥35 (RR = 1.27; 95% CI, 0.83-1.95). We found little evidence that advanced maternal age is a risk factor for CHD. There is no evidence that women in the United Kingdom should be referred for specialist prenatal cardiac screening based on their age. Birth Defects Research (Part A) 106:461-467, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  11. Evaluation of High Resolution Melting for MTHFR C677T Genotyping in Congenital Heart Disease.

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    Ying Wang

    Full Text Available High resolution melting (HRM is a simple, flexible and low-cost mutation screening technique. The methylenetetrahydrofolate reductase (MTHFR gene encoding a critical enzyme, potentially affects susceptibility to some congenital defects like congenital heart disease (CHD. We evaluate the performance of HRM for genotyping of the MTHFR gene C677T locus in CHD cases and healthy controls of Chinese Han population.A total of 315 blood samples from 147 CHD patients (male72, female 75 and 168 healthy controls (male 92, female 76 were enrolled in the study. HRM was utilized to genotype MTHFR C677T locus of all the samples. The results were compared to that of PCR-RFLP and Sanger sequencing. The association of the MTHFR C677T genotypes and the risk of CHD was analyzed using odds ratio with their 95% confidence interval (CIs from unconditional logistic regression.All the samples were successfully genotyped by HRM within 1 hour and 30 minutes while at least 6 hours were needed for PCR-RFLP and sequencing. The genotypes of MTHFR C677T CC, CT, and TT were 9.52%, 49.66%, and 40.82% in CHD group but 29.17%, 50% and 20.83% in control group, which were identical using both methods of HRM and PCR-RFLP, demonstrating the sensitivity and specificity of HRM were all 100%.MTHFR C677T is a potential risk factor for CHD in our local residents of Shandong province in China. HRM is a fast, sensitive, specific and reliable method for clinical application of genotyping.

  12. Viral diseases and human evolution

    OpenAIRE

    2000-01-01

    The interaction of man with viral agents was possibly a key factor shaping human evolution, culture and civilization from its outset. Evidence of the effect of disease, since the early stages of human speciation, through pre-historical times to the present suggest that the types of viruses associated with man changed in time. As human populations progressed technologically, they grew in numbers and density. As a consequence different viruses found suitable conditions to thrive and establish l...

  13. Emerging Research Directions in Adult Congenital Heart Disease: A Report From an NHLBI/ACHA 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

    2016-04-26

    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. 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 adult CHD. 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.

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

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    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.

  15. The Influence of Exercise Training on Quality of Life and Psychosocial Functioning in Children with Congenital Heart Disease:A Review of Intervention Studies

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    Karolijn Dulfer

    2017-02-01

    Full Text Available Children and adolescents operated upon for congenital heart disease may show reduced exercise capacity and physical activity, associated with lowered quality of life. This review presents intervention studies on the influence of an exercise program on quality of life and psychosocial functioning in children with severe congenital heart disease. Participation in an exercise program among young people with complex congenital heart disease seemed to have positive effects on quality of life and passive leisure time spent. However, more effects of the exercise programs may have been expected. For future research it is important to critically evaluate the content of the exercise programs.

  16. Viral diseases and human evolution

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    Leal Élcio de Souza

    2000-01-01

    Full Text Available The interaction of man with viral agents was possibly a key factor shaping human evolution, culture and civilization from its outset. Evidence of the effect of disease, since the early stages of human speciation, through pre-historical times to the present suggest that the types of viruses associated with man changed in time. As human populations progressed technologically, they grew in numbers and density. As a consequence different viruses found suitable conditions to thrive and establish long-lasting associations with man. Although not all viral agents cause disease and some may in fact be considered beneficial, the present situation of overpopulation, poverty and ecological inbalance may have devastating effets on human progress. Recently emerged diseases causing massive pandemics (eg., HIV-1 and HCV, dengue, etc. are becoming formidable challenges, which may have a direct impact on the fate of our species.

  17. Intestinal perforation after combined liver-kidney transplantation for a case of congenital polycystic disease

    Institute of Scientific and Technical Information of China (English)

    Tao Peng; Bin Chen; Qin Zhong; Min-Yi Wei; Min-Hao Peng; Le-Qun Li; Yao-Liang Deng; Ding-Hua Yang; Bang-Yu Lu; Xi-Gang Chen; Ya Guo; Kai-Yin Xiao

    2004-01-01

    AIM: To highlight the intestinal perforation (IP), an uncommon and catastrophic complication after combined liver-kidney transplantation.METHODS: Combined liver-kidney transplantation (LKTx) with left kidney excision and a cyst fenestration procedure on the right kidney were performed on a case of 46-year-old female with congenital polycystic disease (CPCD). RFSULTS: Two sites of IP were noted 40-50 cm proximal to ileocecal area during emergent laparotomy 10 d postoperatively.Despite aggressive surgical and medical management, disease progressed toward a fatal outcome due to sepsis and multiple organ failure 11 d later. CONCLUSION: Long duration of operation without venovenous bypass, overdose of steroid together with postoperative volume excess may all contribute to the risk of idiopathic multiple IPs. Microbiology and pathology inspections suggested that the infected cyst of the fenestrated kidney might be one reason for the fatal intra-peritoneal infection. Thus for the CPCD patients who seem to be very susceptible to infectious complications, any sign of suspected renal-infection found before or during LKTx is indication for the excision of original kidney. And the intensity of immunosuppression therapy should be controlled cautiously.

  18. [Congenital heart disease: Recent technical advances in three-dimensional echocardiography].

    Science.gov (United States)

    Karsenty, Clement; Hadeed, Khaled; Acar, Philippe

    2017-05-01

    The recent technical advances allow the use in practice of three-dimensional echocardiography in children especially through the new high frequency matrix probe. It is difficult or even impossible to hold breathing during children' acquisition so to avoid motion full volume artifact, one beat and live 3D modes are suitable. 3D echocardiography is more accurate than 2D to assess the size, location, and relationship with surrounding structures of atrial and ventricular septal defects and thus helps in the therapeutic decision. 3D echocardiography enables to guide precisely percutaneous procedure. The morphology of the valve leaflets, chordal support apparatus, papillary muscle and the annulus are particularly well described in 3D and allows assessment of the regurgitation before repair and after as well for the common valve of the atrioventricular septal defect or in the Ebstein anomaly. Complex heart diseases such as double outlet right ventricle are suitable to a tridimensional assessment to plan surgical strategy. 3D printing, fusion imaging in cathlab and automated volume quantification embody recent innovations of new techniques in congenital heart disease. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  19. Congenital vestibular disease in captive Sumatran tigers (Panthera tigris ssp. sumatrae) in Australasia.

    Science.gov (United States)

    Wheelhouse, Jaimee L; Hulst, Frances; Beatty, Julia A; Hogg, Carolyn J; Child, Georgina; Wade, Claire M; Barrs, Vanessa R

    2015-11-01

    The Sumatran tiger (Panthera tigris ssp. sumatrae) is a critically endangered species in the wild. To ensure that demographic and genetic integrity are maintained in the longer term, those Sumatran tigers held in captivity are managed as a global population under a World Association of Zoos and Aquariums Global Species Management Plan (GSMP). A retrospective study, including segregation and pedigree analysis, was conducted to investigate potential cases of congenital vestibular disease (CVD) in captive Sumatran tigers in Australasian zoos using medical and husbandry records, as well as video footage obtained from 50 tigers between 1975 and 2013. Data from the GSMP Sumatran tiger studbook were made available for pedigree and segregation analysis. Fourteen cases of CVD in 13 Sumatran tiger cubs and one hybrid cub (Panthera tigris ssp. sumatrae × Panthera tigris) were identified. Vestibular signs including head tilt, circling, ataxia, strabismus and nystagmus were observed between birth and 2 months of age. These clinical signs persisted for a median of 237 days and had resolved by 2 years of age in all cases. Pedigree analysis revealed that all affected tigers were closely related and shared a single common ancestor in the last four generations. A genetic cause for the disease is suspected and, based on pedigree and segregation analysis, an autosomal dominant mode of inheritance is likely. Further investigations to determine the world-wide prevalence and underlying pathology of this disorder are warranted.

  20. Extracorporeal membrane oxygenation in the neonate with congenital renal disease and pulmonary hypoplasia.

    Science.gov (United States)

    Caesar, R E; Packer, M G; Kaplan, G W; Dudell, G G; Guerrant, A L; Griswold, W R; Lemire, J M; Mendoza, S A; Reznik, V M

    1995-11-01

    Extracorporeal membrane oxygenation (ECMO) is an effective treatment modality for the newborn with refractory hypoxemia. Oligohydramnios can be associated with congenital renal disease (CRD) and can result in respiratory insufficiency from pulmonary hypoplasia, delayed lung maturation, and persistent pulmonary hypertension of the newborn. In this retrospective study, the authors reviewed the outcome of four children with CRD who required ECMO in the neonatal period. Between October 1987 and December 1995, ECMO was used in four newborns with CRD and pulmonary hypoplasia unresponsive to maximal medical management. The causes of CRD were urinary obstruction (2), renal dysplasia (1), and vesicoureteral reflux (1). Neonatal survivors of ECMO with CRD had regular follow-up with a nephrologist, urologist, and pediatrician. Developmental history, assessment of renal function, and a nutritional evaluation were recorded on each visit. The follow-up period ranged from 6 months to 5 years. All patients with CRD were successfully weaned from ECMO. One child died, at 1 month of age, because of renal failure. The estimated glomerular filtration rates in the three survivors were 20, 24, and 60 mL/min/1.73 m2. Growth and development have been delayed in two patients. Based on the author's experience, ECMO may improve the survival of neonates with pulmonary hypoplasia and CRD. Factors associated with successful long-term outcome include (1) renal disease amenable to surgical correction, (2) aggressive nutritional support, and (3) a reliable social support system.

  1. Heart failure treatment in adults with congenital heart disease: where do we stand in 2014?

    Science.gov (United States)

    Krieger, Eric V; Valente, Anne Marie

    2014-09-01

    Heart failure (HF) is the leading cause of death in adults with repaired congenital heart disease (CHD). However there is currently little evidence to guide treatment strategies in this growing group of patients. Unlike the majority of HF, which is usually caused by LV systolic or diastolic dysfunction, CHD-HF is more often a consequence of RV disease, valve dysfunction, shunting or pulmonary hypertension. It is therefore not appropriate to extrapolate from the acquired HF literature and apply it to this heterogeneous population of CHD patients. Additionally, patients with CHD have been excluded from most large trials of medical or device therapy of HF, which has resulted in small retrospective and underpowered studies in the CHD population. This article critically reviews the current knowledge about CHD-HF, paying particular attention to medical therapy in different CHD populations, cardiac resynchronisation therapy and implantable cardiac defibrillators, and the challenges of heart transplantation and mechanical circulatory support in CHD patients. 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.

  2. Determination of the prevalence of congenital heart disease in the patients admitted to the heart clinic

    Institute of Scientific and Technical Information of China (English)

    Shokoufeh Ahmadipour; Behzad Mohammadpour Ahranjani; Sara Daeichin; Zahra Mirbeig Sabzevari

    2015-01-01

    Objective:To investigate the prevalence of congenital heart disease (CHD) among the patients who refferred to the heart clinic so as to make an early and correct diagnosis. Methods: In this descriptive-cross sectional study, all the patients admitted to the heart clinic who had symptoms or signs ofCHDwere included. The data were collected in one year based on the medical records. The main variables consisted of age, gender, history of folic acid consumption by the mother in pregnancy, clinical signs, symptoms and so on. Results: Among the 763 admitted patients, 498 were males and the rest were females. Infants were the most common group and teenagers were the least one. The most common findings for which the patients had been referred were chest pain and a murmur heard during a normal physical examination. Based on the echocardiography findings, ventricular and atrial septal defects were the most common ones. The history of folic acid consumption was negative in 168 mothers within their pregnancy. Conclusions: Since the causes and risk factors in the incidence ofCHD in children are numerous, we recommended that the information about these diseases should be given to the community and strengthen the referral system, design registration system ofCHD set up in the country round.

  3. Heart Transplantation in Congenital Heart Disease: In Whom to Consider and When?

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    Christine H. Attenhofer Jost

    2013-01-01

    Full Text Available Due to impressive improvements in surgical repair options, even patients with complex congenital heart disease (CHD may survive into adulthood and have a high risk of end-stage heart failure. Thus, the number of patients with CHD needing heart transplantation (HTx has been increasing in the last decades. This paper summarizes the changing etiology of causes of death in heart failure in CHD. The main reasons, contraindications, and risks of heart transplantation in CHD are discussed and underlined with three case vignettes. Compared to HTx in acquired heart disease, HTx in CHD has an increased risk of perioperative death and rejection. However, outcome of HTx for complex CHD has improved over the past 20 years. Additionally, mechanical support options might decrease the waiting list mortality in the future. The number of patients needing heart-lung transplantation (especially for Eisenmenger’s syndrome has decreased in the last years. Lung transplantation with intracardiac repair of a cardiac defect is another possibility especially for patients with interatrial shunts. Overall, HTx will remain an important treatment option for CHD in the near future.

  4. [DNA-diagnosis of congenital diseases in companion animals and the role of the practicing veterinarian].

    Science.gov (United States)

    Ubbink, G J; Stades, F C; Rothuizen, J

    2002-04-15

    The knowledge on the impact of gene defects on the development of disease in companion animals is increasing rapidly. The gene defects may be differentiated in an initiating defect, which is the cause of illness, and a promoting defect, which enhances the chance on illness. Up till now only initiating defects are known in dogs and cats. All this is of great importance for breeding purposes, because within a breed there is narrow relationship which means the genetic diversity is small, and with all the disadvantages thereof. The identification in good time of gene defects in breeding animals, so that these animals being excluded from breeding, is of utmost importance in preventing congenital diseases. For that reason more and more the owners will appeal to veterinary surgeons to cooperate in procedures to screen potential breeding animals, or to declare the animals free from gene defects. The problems with regard to the diagnostic tests, including the DNA-tests, and their predictive values are discussed.

  5. Characterization of SMAD3 Gene Variants for Possible Roles in Ventricular Septal Defects and Other Congenital Heart Diseases.

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    Fei-Feng Li

    Full Text Available Nodal/TGF signaling pathway has an important effect at early stages of differentiation of human embryonic stem cells in directing them to develop into different embryonic lineages. SMAD3 is a key intracellular messenger regulating factor in the Nodal/TGF signaling pathway, playing important roles in embryonic and, particularly, cardiovascular system development. The aim of this work was to find evidence on whether SMAD3 variations might be associated with ventricular septal defects (VSD or other congenital heart diseases (CHD.We sequenced the SMAD3 gene for 372 Chinese Han CHD patients including 176 VSD patients and evaluated SNP rs2289263, which is located before the 5'UTR sequence of the gene. The statistical analyses were conducted using Chi-Square Tests as implemented in SPSS (version 13.0. The Hardy-Weinberg equilibrium test of the population was carried out using the online software OEGE.Three heterozygous variants in SMAD3 gene, rs2289263, rs35874463 and rs17228212, were identified. Statistical analyses showed that the rs2289263 variant located before the 5'UTR sequence of SMAD3 gene was associated with the risk of VSD (P value=0.013 <0.05.The SNP rs2289263 in the SMAD3 gene is associated with VSD in Chinese Han populations.

  6. Characterization of nodal/TGF-lefty signaling pathway gene variants for possible roles in congenital heart diseases.

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    Xia Deng

    Full Text Available BACKGROUND: Nodal/TGF-Lefty signaling pathway has important effects at early stages of differentiation of human embryonic stem cells in directing them to differentiate into different embryonic lineages. LEFTY, one of transforming growth factors in the Nodal/TGF-Lefty signaling pathway, plays an important role in the development of heart. The aim of this work was to find evidence on whether Lefty variations are associated with congenital heart diseases (CHD. METHODS: We sequenced the Lefty gene for 230 Chinese Han CHD patients and evaluated SNPs rs2295418, rs360057 and g.G169A, which are located within the translated regions of the genes. The statistical analyses were conducted using Chi-Square Tests as implemented in SPSS (version 13.0. The Hardy-Weinberg equilibrium test of the population was carried out using online software OEGE, and multiple-sequence alignments of LEFTY proteins were carried out using the Vector NTI software. RESULTS: Two heterozygous variants in Lefty1 gene, g.G169A and g.A1035C, and one heterozygous variant in Lefty2 gene, g.C925A, were identified. Statistical analyses showed that the rs2295418 (g.C925A variant in Lefty2 gene was obviously associated with the risk of CHD (P value = 0.0160.05. CONCLUSIONS: The SNP rs2295418 in the Lefty2 gene is associated with CHD in Chinese Han populations.

  7. Pyrrolizidine Alkaloids: Potential Role in the Etiology of Cancers, Pulmonary Hypertension, Congenital Anomalies, and Liver Disease.

    Science.gov (United States)

    Edgar, John A; Molyneux, Russell J; Colegate, Steven M

    2015-01-20

    Large outbreaks of acute food-related poisoning, characterized by hepatic sinusoidal obstruction syndrome, hemorrhagic necrosis, and rapid liver failure, occur on a regular basis in some countries. They are caused by 1,2-dehydropyrrolizidine alkaloids contaminating locally grown grain. Similar acute poisoning can also result from deliberate or accidental consumption of 1,2-dehydropyrrolizidine alkaloid-containing herbal medicines, teas, and spices. In recent years, it has been confirmed that there is also significant, low-level dietary exposure to 1,2-dehydropyrrolizidine alkaloids in many countries due to consumption of common foods such as honey, milk, eggs, salads, and meat. The level of 1,2-dehydropyrrolizidine alkaloids in these foods is generally too low and too intermittent to cause acute toxicity. However, these alkaloids are genotoxic and can cause slowly developing chronic diseases such as pulmonary arterial hypertension, cancers, cirrhosis, and congenital anomalies, conditions unlikely to be easily linked with dietary exposure to 1,2-dehydropyrrolizidine alkaloids, especially if clinicians are unaware that such dietary exposure is occurring. This Perspective provides a comprehensive review of the acute and chronic toxicity of 1,2-dehydropyrrolizidine alkaloids and their potential to initiate certain chronic diseases, and suggests some associative considerations or indicators to assist in recognizing specific cases of diseases that may have resulted from dietary exposure to these hazardous natural substances. If it can be established that low-level dietary exposure to 1,2-dehydropyrrolizidine alkaloids is a significant cause of some of these costly and debilitating diseases, then this should lead to initiatives to reduce the level of these alkaloids in the food chain.

  8. Congenital central hypoventilation syndrome associated with Hirschsprung's Disease: case report and literature review

    Science.gov (United States)

    Sandoval, Renata Lazari; Zaconeta, Carlos Moreno; Margotto, Paulo Roberto; Cardoso, Maria Teresinha de Oliveira; França, Evely Mirella Santos; Medina, Cristina Touguinha Neves; Canó, Talyta Matos; de Faria, Aline Saliba

    2016-01-01

    Abstract Objective: To report the case of a newborn with recurrent episodes of apnea, diagnosed with Congenital Central hypoventilation syndrome (CCHS) associated with Hirschsprung's disease (HD), configuring Haddad syndrome. Case description: Third child born at full-term to a non-consanguineous couple through normal delivery without complications, with appropriate weight and length for gestational age. Soon after birth he started to show bradypnea, bradycardia and cyanosis, being submitted to tracheal intubation and started empiric antibiotic therapy for suspected early neonatal sepsis. During hospitalization in the NICU, he showed difficulty to undergo extubation due to episodes of desaturation during sleep and wakefulness. He had recurrent episodes of hypoglycemia, hyperglycemia, metabolic acidosis, abdominal distension, leukocytosis, increase in C-reactive protein levels, with negative blood cultures and suspected inborn error of metabolism. At 2 months of age he was diagnosed with long-segment Hirschsprung's disease and was submitted to segment resection and colostomy through Hartmann's procedure. A genetic research was performed by polymerase chain reaction for CCHS screening, which showed the mutated allele of PHOX2B gene, confirming the diagnosis. Comments: This is a rare genetic, autosomal dominant disease, caused by mutation in PHOX2B gene, located in chromosome band 4p12, which results in autonomic nervous system dysfunction. CCHS can also occur with Hirschsprung's disease and tumors derived from the neural crest. There is a correlation between phenotype and genotype, as well as high intrafamilial phenotypic variability. In the neonatal period it can simulate cases of sepsis and inborn errors of metabolism. PMID:26838603

  9. Chagas disease prevalence in pregnant women: migration and risk of congenital transmission.

    Science.gov (United States)

    Kolliker-Frers, Rodolfo A; Insua, Ivan; Razzitte, Gabriela; Capani, Francisco

    2016-09-30

    Argentina has been a preferential target for Bolivian immigrants for decades. The relatively recent migratory flux includes Germany, France, the United States, Australia, Japan, and some Latin American countries. The aim of this cross-sectional study was to describe the prevalence of Chagas disease in pregnant women, analyzing the Bolivian-specific Chagas prevalence as the main contributor of migratory populations from Chagas disease-endemic areas to Buenos Aires city, Argentina, and to evaluate the impact of these migrant influxes on the process of the "urbanization" of the disease in reference hospital José Maria Ramos Mejia (JMRM). Overall, 21,332 pregnant women (100%) between 15 and 49 years of age derived from the public maternity service of JMRMH were studied. Serology data was obtained from registered serological diagnosis data, consisting of three different serological tests performed at the Public Parasitology Unit. Although general prevalence decreased during the analyzed period, the specific prevalence of pregnant women from Bolivian origin showed a sustained growth during 1983-2013. Solely 5% of the total pregnant women population from Bolivia contributed to one third of the total Chagas prevalence. This study showed that a cohort of pregnant women from Bolivia who attended JMRMH during the period 1983-2007 constituted a population at risk for congenital transmission. Increased migration from endemic areas of Bolivia might potentially increase the prevalence of Chagas disease among pregnant women. In addition, this study highlights the importance to analyze specific prevalence according to endemic areas to determine the profiles of potential hidden prevalence.

  10. The Prevalence of Celiac Disease in Down syndrome Children with and without Congenital Heart Defects

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    Noor Mohammad Noori

    2016-07-01

    Full Text Available Background The prevalence of celiac disease (CD is remarkably varied in Down syndrome(DSpatientscompared with other diseases.  This study aimed to assess celiac disease prevalence in Down syndrome children with and without congenital heart defects (CHD and its comparison with controls. Materials and Methods This case-control study was performed at a single center on 132 participants in three groups. Clinical and genetic tests were performed on all patients suspected with Down syndrome to confirm their diseases.  After that in patients with confirmed Down syndrome echocardiography was carried out to diagnosis of CHD. Healthy children selected randomly among those who referred to the center for annual check-up. Statistical evaluation was done using SPSS-16. Results For the factors of age, weight, height and Body Mass Index (BMI not observed significant differences between three groups of participants, but it would be observed statistically differences for the variable of tTG- IgA.  For variables of weight, tTG- IgA and BMI was observed statistically different in the case and controls. The status of tTG- IgA (normal or 20 had significant correlation with three groups of controls, Down syndrome with and without CHD. The status of tTG- IgA also had significant correlation with groups of case and controls. In comparison of tTG- IgA in DS patients with and without CHD, no significant differences were observed. Conclusion The prevalence of CD in DS patients was higher compared the controls population; and in DS patients with CHD was higher compared the DS patients without CHD.

  11. Human KATP channelopathies: diseases of metabolic homeostasis

    Science.gov (United States)

    2009-01-01

    Assembly of an inward rectifier K+ channel pore (Kir6.1/Kir6.2) and an adenosine triphosphate (ATP)-binding regulatory subunit (SUR1/SUR2A/SUR2B) forms ATP-sensitive K+ (KATP) channel heteromultimers, widely distributed in metabolically active tissues throughout the body. KATP channels are metabolism-gated biosensors functioning as molecular rheostats that adjust membrane potential-dependent functions to match cellular energetic demands. Vital in the adaptive response to (patho)physiological stress, KATP channels serve a homeostatic role ranging from glucose regulation to cardioprotection. Accordingly, genetic variation in KATP channel subunits has been linked to the etiology of life-threatening human diseases. In particular, pathogenic mutations in KATP channels have been identified in insulin secretion disorders, namely, congenital hyperinsulinism and neonatal diabetes. Moreover, KATP channel defects underlie the triad of developmental delay, epilepsy, and neonatal diabetes (DEND syndrome). KATP channelopathies implicated in patients with mechanical and/or electrical heart disease include dilated cardiomyopathy (with ventricular arrhythmia; CMD1O) and adrenergic atrial fibrillation. A common Kir6.2 E23K polymorphism has been associated with late-onset diabetes and as a risk factor for maladaptive cardiac remodeling in the community-at-large and abnormal cardiopulmonary exercise stress performance in patients with heart failure. The overall mutation frequency within KATP channel genes and the spectrum of genotype–phenotype relationships remain to be established, while predicting consequences of a deficit in channel function is becoming increasingly feasible through systems biology approaches. Thus, advances in molecular medicine in the emerging field of human KATP channelopathies offer new opportunities for targeted individualized screening, early diagnosis, and tailored therapy. PMID:20033705

  12. Clinical Characteristics of Down Syndrome Children With Congenital Heart Disease in a Developing Country

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    Mottaghi Moghaddam

    2015-11-01

    Full Text Available Background Down syndrome (DS is the most common chromosomal abnormality in newborns and is associated with other congenital malformations and health problems. The features of Down syndrome differ according to ethnicity and geographic region. Objectives The main aim was to assess the clinical characteristics of DS patients in a referral pediatric cardiology department. Patients and Methods In this cross-sectional study, we assessed the clinical characteristics of children with Down syndrome and heart defects in an educational hospital over 11 years (from September 2001 to September 2012 in Iran. All data were collected according to a checklist created by the researchers, which included the clinical information, genetic characteristics, cardiac and non-cardiac co-existing diseases, and parental variables of the children. An independent t-test and a chi-square test were used to compare qualitative variables such as birth weight and age of diagnosis. P < 0.05 was considered statistically significant. Results 100 patients with Down syndrome and congenital heart disease were evaluated; 52 were female (52% and 48 were male (48%. The average birth weight of the subjects was 2745 ± 523 (mean ± SD grams. The mean age of the patients’ mothers was 32 ± 6 years, and the mean age of the patients’ fathers was 36 ± 6 years. Chromosomal analysis was performed for 61 patients, 60 of whom had free trisomy (98.4%, one of whom had translocation (1.6%, and none of whom had a mosaic pattern of chromosomal abnormality. The parents of 33 the patients in this study were consanguineous. All patients had cardiac disorders, but non-cardiac disorder also was recorded in 37 patients (37%. The most common non-cardiac disorder in patients was hypothyroidism, and the second most common was gastrointestinal problems. Conclusions Parents were blood relatives in 33 (33% of the patient cases, which is a very high rate. Therefore, non-random mating is an important issue in

  13. Decreased plasma ADAMTS-13 activity as a predictor of postoperative bleeding in cyanotic congenital heart disease

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    Rosangela P.S. Soares

    2013-04-01

    Full Text Available OBJECTIVE: To analyze the preoperative plasma antigenic concentration and activity of von Willebrand factor and its main cleaving protease ADAMTS-13 in pediatric patients with cyanotic congenital heart disease undergoing surgical treatment and investigate possible correlations with postoperative bleeding. METHODS: Plasma antigenic concentrations (von Willebrand factor:Ag and ADAMTS-13:Ag were measured using enzyme-linked immunoassays. Collagen-binding assays were developed to measure biological activities (von Willebrand factor:collagen binding and ADAMTS-13 activity. The multimeric structure of von Willebrand factor was analyzed using Western immunoblotting. Demographic, diagnostic, and general and specific laboratory data and surgery-related variables were subjected to univariate, bivariate, and multivariate analysis for the prediction of postoperative bleeding. RESULTS: Forty-eight patients were enrolled, with ages ranging from 9 months to 7.6 years (median 2.5 years. The plasma concentrations of von Willebrand factor:Ag and ADAMTS-13:Ag were decreased by 65 and 82%, respectively, in the patients compared with the controls (p<0.001. An increased density of low-molecular-weight fractions of von Willebrand factor, which are suggestive of proteolytic degradation (p = 0.0081, was associated with decreased ADAMTS-13 activity, which was likely due to ADAMTS-13 consumption (71% of controls, p = 0.0029 and decreased von Willebrand factor:collagen binding (76% of controls, p = 0.0004. Significant postoperative bleeding occurred in 13 patients. The preoperative ADAMTS-13 activity of <64.6% (mean level for the group, preoperative activated partial thromboplastin time, and the need for cardiopulmonary bypass were characterized as independent risk factors for postoperative bleeding, with respective hazard ratios of 22.35 (95% CI 1.69 to 294.79, 1.096 (95% CI 1.016 to 1.183, and 37.43 (95% CI 1.79 to 782.73. CONCLUSION: Low plasma ADAMTS-13

  14. [Assessment of undiagnosed critical congenital heart disease before discharge from the maternity hospital].

    Science.gov (United States)

    Zhao, Q M; Liu, F; Wu, L; Ye, M; Jia, B; Ma, X J; Huang, G Y

    2017-04-02

    Objective: Undiagnosed critical congenital heart disease (CCHD) was assessed before discharge from maternity hospital.Basic information was provided for screening CCHD in the early neonatal stage.Chi-squared test was used for comparison of categorical variables(detection rate of different types of CCHD). Method: A retrospective cohort study was conducted in neonates with CCHD who were admitted to Children's Hospital of Fudan University between 1 January 2012 and 31 December 2015. For comparing with the previously reported undiagnosed rate of CCHD at discharge, CCHD was defined as all duct dependent congenital heart disease (DDCHD) and any cyanotic CHD that required early surgery. Result: A total of 1 036 infants with CCHD were included. The prenatal detection rate of CCHD was 14.04%(122/869). As a whole, 52.51% (544/1 036) of CCHD cases were undiagnosed at discharge, and 14.09%(146/1 036)were still missed after 6-week examination. The diagnoses most likely to be unrecognized at discharge included critical coarctation of the aorta (COA) (75.00%), total anomalous pulmonary venous connection (61.54%), pulmonary atresia (PA) with ventricle septal defect (VSD) (61.45%), single ventricle (SV) (60.10%) and critical aortic stenosis (52.94%). Among newborns diagnosed prior to discharge, 54.88% (270/492) due to symptom or prenatal ultrasonographic diagnosis, 45.12% (222/492) due to abnormal findings in routine examination. Among asymptomatic CCHD cases without prenatal diagnosis, 71.02% (544/766) were undiagnosed and the most common delayed diagnosis was SV (82.78%), interrupted aortic arch (81.82%), transposition of the great arteries with intact ventricular septum (79.63%), PA/VSD (79.07%), and critical COA (78.57%). Newborns with DDC were more likely to develop symptoms within the first few days after birth, in comparison with non-DDC cases. However, their detection rates were close to each other. Conclusion: The rate of misdiagnosis of CCHD before discharge from

  15. Peripheral oxygen saturation, heart rate, and blood pressure during dental treatment of children with cyanotic congenital heart disease

    Directory of Open Access Journals (Sweden)

    Rosane Menezes Faria Dutra

    2014-01-01

    Full Text Available OBJECTIVES: In this observational study, we evaluated the peripheral oxygen saturation (SpO2, heart rate, and blood pressure of children with cyanotic congenital heart disease who were undergoing dental extraction. METHODS: Forty-four patients between the ages of 6 and 12 years who underwent upper primary tooth extraction were included in the study. Of these, 20 patients were in the cyanotic congenital heart disease group and 24 were in the control group. RESULTS: Peripheral oxygen saturation, heart rate, and systolic blood pressure in the cyanotic congenital heart disease group varied quite significantly during the treatment protocol (p<0.05, with values of 80.5% (±7.6 to 82.8% (±7.8, 95.3 beats per minute (bpm (±11.3 to 101.3 bpm (±9.8, and 93.6 mm Hg (±13,3 to 103.8 mm Hg (±12.7, respectively. The variations in the control group during the procedure were also significant. CONCLUSIONS: The changes observed during the study protocol, although statistically significant, were mild and lacked clinical relevance. The results indicate that dental treatment of children with cyanotic heart disease using a standardized protocol in decentralized offices without the support of a surgical center is safe.

  16. Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

    Directory of Open Access Journals (Sweden)

    Felipe Alves Mourato

    2014-06-01

    Full Text Available OBJECTIVE:To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis.METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7.RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1% and 112 (81.2% were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age.CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.

  17. 小儿先天性心脏病封堵术后的护理体会%Nursing Experience of Children with Congenital Heart Disease after Transcatheter Closure of Congenital Heart Disease

    Institute of Scientific and Technical Information of China (English)

    曾珍; 郭文馨

    2015-01-01

    目的:探讨小儿先天性心脏病封堵术后护理要点。方法回顾性分析我科自2014年1月~2015年5月共50例小儿先天性心脏病封堵术的案例。结果手术成功,术后恢复快,无严重并发症。结论患者年龄小,体重低,护理难度大,规范有效的护理能有效预防并发症的发生,促进术后恢复。%Objective To explore the nursing points of the patients with congenital heart disease in children. Methods A retrospective analysis of 50 cases of congenital heart disease in children from January 2014 to May 2015, a total of cases of congenital heart disease. Results The operation was successful, and the recovery was fast and no serious complication. Conclusion Patients with low age, low weight, dif iculty of nursing, standardized and ef ective nursing can ef ectively prevent the occur ence of complications, promote postoperative recovery.

  18. Linking Microbiota to Human Diseases

    DEFF Research Database (Denmark)

    Wu, Hao; Tremaroli, Valentina; Bäckhed, F

    2015-01-01

    diabetes (T2D), and irritable bowel syndrome, and some animal experiments have suggested causality. However, few studies have validated causality in humans and the underlying mechanisms remain largely to be elucidated. We discuss how systems biology approaches combined with new experimental technologies......The human gut microbiota encompasses a densely populated ecosystem that provides essential functions for host development, immune maturation, and metabolism. Alterations to the gut microbiota have been observed in numerous diseases, including human metabolic diseases such as obesity, type 2...... may disentangle some of the mechanistic details in the complex interactions of diet, microbiota, and host metabolism and may provide testable hypotheses for advancing our current understanding of human-microbiota interaction....

  19. Chromatin remodeling and human disease.

    Science.gov (United States)

    Huang, Cheng; Sloan, Emily A; Boerkoel, Cornelius F

    2003-06-01

    In the past few years, there has been a nascent convergence of scientific understanding of inherited human diseases with epigenetics. Identified epigenetic processes involved in human disease include covalent DNA modifications, covalent histone modifications, and histone relocation. Each of these processes influences chromatin structure and thereby regulates gene expression and DNA methylation, replication, recombination, and repair. The importance of these processes for nearly all aspects of normal growth and development is illustrated by the array of multi-system disorders and neoplasias caused by their dysregulation.

  20. Complications of pacemaker therapy in adults with congenital heart disease: a multicenter study.

    Science.gov (United States)

    Opić, Petra; van Kranenburg, Matthijs; Yap, Sing-Chien; van Dijk, Arie P; Budts, Werner; Vliegen, Hubert W; van Erven, Lieselot; Can, Anil; Sahin, Gulhan; Theuns, Dominic A M J; Witsenburg, Maarten; Roos-Hesselink, Jolien W

    2013-10-09

    This study aims to investigate indications and complications of permanent cardiac pacing in adults with congenital heart disease (CHD). Two-hundred and seventy-four CHD patients were identified who underwent permanent pacemaker implantation between 1972 and 2009. The indication for pacing was acquired sinus node or AV node conduction disease (63%), sinus node or AV node conduction disease after cardiac surgery (28%), and drug/arrhythmia-related indications (9%). Patients with complex CHD received a pacemaker at younger age (23 versus 31 years, ppacemaker implantation (general population: 5.2%). The most common acute complications were lead dysfunction (4.0%), bleeding (2.6%), pocket infection (1.5%) and pneumothorax (1.5%). During a median follow-up of 12 years, pacemaker-related complications requiring intervention occurred in 95 patients (34.6%). The most common late pacemaker-related complications included lead failure (24.8%), pacemaker dysfunction/early battery depletion (5.1%), pacemaker migration (4.7%) and erosion (4.7%). Pacemaker implantation at younger age (pacemaker-related complication (adjusted hazard ratio 1.68, 95% confidence interval 1.07 to 2.63, p=0.023). The risk of periprocedural complications seems higher in the CHD population compared to the general population and more than one-third of CHD patients encountered a pacemaker-related complication during long-term follow-up. This risk increases for those who receive a pacemaker at younger age. Crown Copyright © 2013. Published by Elsevier Ireland Ltd. All rights reserved.