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Sample records for grown-up congenital heart

  1. Challenges of congenital heart disease in grown-up patients.

    Science.gov (United States)

    Schwerzmann, Markus; Schwitz, Fabienne; Thomet, Corina; Kadner, Alexander; Pfammatter, Jean-Pierre; Wustmann, Kerstin

    2017-10-04

    Nowadays, more than 90% of all children born with congenital heart disease (CHD) reach adult life. Although initially considered to be cured, the majority of them continue to need specialised follow-up because they require re-do interventions or are at increased risk of cardiovascular complications and premature death. Arrhythmias are the most common cause of unscheduled hospital visits for grown-up CHD (GUCH) patients, accounting for one third of emergency admissions in these patients. Some GUCH patients are also at increased risk for sudden cardiac death. The principles of arrhythmia management and the prevention of sudden cardiac death in GUCH patients are similar to those used in adults with acquired heart disease, but are not evidence based. Decompensated heart failure is the other leading cause of death. Conventional medical heart-failure therapy for left ventricular dysfunction is not effective in GUCH patients at highest risk of heart failure, i.e., those with right or single ventricular failure. Careful haemodynamic assessment and structural interventions are the first step to consider in GUCH patients presenting with heart failure symptoms. Adults with moderate or complex CHD and regular follow-up in specialised GUCH centres have a survival benefit compared with patients without such follow-up. Cardiac surgery in GUCH patients should be performed by surgeons trained in treatment of CHD, i.e., surgeons also operating on paediatric patients. A structured transition programme with a defined transfer of care from the paediatric to the adult care environment is important to avoid lapses of care in today's adolescents with CHD. For GUCH patients with an intervention performed decades ago and no specific cardiac follow-up in later life, referral to a specialised GUCH centre is recommended and may save lives.

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

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

    2017-12-01

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

  3. Are grown-ups with congenital heart disease willing to participate in an exercise program? : willingness of GUCH to exercise

    NARCIS (Netherlands)

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

    2013-01-01

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

  4. A Striking Coronary Artery Pattern in a Grown-Up Congenital Heart Disease Patient

    Directory of Open Access Journals (Sweden)

    Fortunato Iacovelli

    2016-01-01

    Full Text Available Left ventricular noncompaction (LVNC is a myocardial disorder probably due to the arrest of normal embryogenesis of the left ventricle. It could be isolated or associated with other extracardiac and cardiac abnormalities, including coronary artery anomalies. Despite the continuous improvement of imaging resolution quality, this cardiomyopathy still remains frequently misdiagnosed, especially if associated with other heart diseases. We report a case of LVNC association with both malposition of the great arteries and a very original coronary artery pattern.

  5. Congenital heart disease

    Science.gov (United States)

    ... this 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 ...

  6. Visual and Motor Deficits in Grown-up Mice with Congenital Zika Virus Infection

    Directory of Open Access Journals (Sweden)

    Liyuan Cui

    2017-06-01

    Full Text Available Human infants with congenital Zika virus (ZIKV infection exhibit a range of symptoms including microcephaly, intracranial calcifications, macular atrophy and arthrogryposis. More importantly, prognosis data have lagged far behind the recent outbreak of ZIKV in 2015. In this work, we allow congenitally ZIKV-infected mice to grow into puberty. These mice exhibited motor incoordination and visual dysfunctions, which can be accounted by anatomical defects in the retina and cerebellar cortex. In contrary, anxiety level of the ZIKV-infected mice is normal. The spectrum of anatomical and behavioral deficits is consistent across different mice. Our data provided evidence that may help predict the public health burden in terms of prognosis of ZIKV-related congenital brain malformations in an animal model. Our study provided behavioral evaluation for the prognosis of congenital ZIKV infection and provides a platform for screening and evaluation of drugs candidates and treatment aiming at improving regeneration of infected neurons to prevent sequelae caused by ZIKV infection of fetus.

  7. Visual and Motor Deficits in Grown-up Mice with Congenital Zika Virus Infection.

    Science.gov (United States)

    Cui, Liyuan; Zou, Peng; Chen, Er; Yao, Hao; Zheng, Hao; Wang, Qian; Zhu, Jing-Ning; Jiang, Shibo; Lu, Lu; Zhang, Jiayi

    2017-06-01

    Human infants with congenital Zika virus (ZIKV) infection exhibit a range of symptoms including microcephaly, intracranial calcifications, macular atrophy and arthrogryposis. More importantly, prognosis data have lagged far behind the recent outbreak of ZIKV in 2015. In this work, we allow congenitally ZIKV-infected mice to grow into puberty. These mice exhibited motor incoordination and visual dysfunctions, which can be accounted by anatomical defects in the retina and cerebellar cortex. In contrary, anxiety level of the ZIKV-infected mice is normal. The spectrum of anatomical and behavioral deficits is consistent across different mice. Our data provided evidence that may help predict the public health burden in terms of prognosis of ZIKV-related congenital brain malformations in an animal model. Our study provided behavioral evaluation for the prognosis of congenital ZIKV infection and provides a platform for screening and evaluation of drugs candidates and treatment aiming at improving regeneration of infected neurons to prevent sequelae caused by ZIKV infection of fetus. Copyright © 2017 The Authors. Published by Elsevier B.V. All rights reserved.

  8. The heart: Congenital disease

    International Nuclear Information System (INIS)

    Higgins, C.B.

    1987-01-01

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

  9. Radiology of congenital heart disease

    International Nuclear Information System (INIS)

    Amplatz, K.

    1986-01-01

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

  10. General Concepts in Adult Congenital Heart Disease

    OpenAIRE

    Ferit Onur Mutluer; Alpay Çeliker

    2018-01-01

    Congenital heart disease in adults (adult congenital heart disease) is a growing burden for healthcare systems. While infant mortality due to congenital heart disease in the last four decades decreased by almost 3-fold, adult congenital heart disease prevalence increased by more than 2-fold in United States. Adult congenital heart disease prevalence is expected to increase steadily until 2050 in projections. Adult congenital heart disease is a multifaceted problem with many dimensions. This m...

  11. General Concepts in Adult Congenital Heart Disease.

    Science.gov (United States)

    Mutluer, Ferit Onur; Çeliker, Alpay

    2018-01-20

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

  12. General Concepts in Adult Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Ferit Onur Mutluer

    2018-02-01

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

  13. Graphic Grown Up

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    Kim, Ann

    2009-01-01

    It's no secret that children and YAs are clued in to graphic novels (GNs) and that comics-loving adults are positively giddy that this format is getting the recognition it deserves. Still, there is a whole swath of library card-carrying grown-up readers out there with no idea where to start. Splashy movies such as "300" and "Spider-Man" and their…

  14. Cyanotic congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

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

    1979-12-15

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

  15. Cyanotic congenital heart disease

    International Nuclear Information System (INIS)

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

    1979-01-01

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

  16. Profiles in congenital heart disease

    International Nuclear Information System (INIS)

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

    1986-01-01

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

  17. [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.

  18. [Congenital Heart Diseases and Sports].

    Science.gov (United States)

    Wippermann, Friederike; Oberhoffer, Renate; Hager, Alfred

    2017-01-01

    Daily activity is essential for children's development. Especially children with congenital heart disease do not burden adequate, even physical activity is beneficial for them. They should get used to activity and individual athletic performance. Once risks are defined or excluded in a cardiological examination, a detailed sports medical examination is recommended to give advice on individual intensity for leisure and school sports activities. By participation in sporting activities with their peers, they will benefit both physically as well as psychologically. Furthermore, children with congenital heart disease are able to experience their performance limitations. © Georg Thieme Verlag KG Stuttgart · New York.

  19. Genetic Counseling for Congenital Heart Defects

    Science.gov (United States)

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

  20. Congenital Heart Disease and ADHD

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-05-01

    Full Text Available Risk factors for inattention, hyperactivity and impaired school performance were examined in 109 children, 5 to 10 years of age, who had undergone newborn cardiac surgery for complex congenital heart disease (CHD at Children's Hospital of Philadelphia, PA.

  1. The association of congenital neuroblastoma and congenital heart disease

    International Nuclear Information System (INIS)

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

    1989-01-01

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

  2. Bradyarrhythmias in Congenital Heart Disease.

    Science.gov (United States)

    Carlson, Steven K; Patel, Akash R; Chang, Philip M

    2017-06-01

    Bradyarrhythmias in adults with congenital heart disease (CHD) comprise a complex group of arrhythmia disorders with congenital and acquired origins, highly variable long-term sequelae, and complicated treatment options. They can develop across the spectrum of CHD defects and can be encountered at all ages. Although permanent pacing is effective in treating bradyarrhythmias, it is associated with many complications and morbidity, where it is often used early in life. This section discusses the incidence and prevalence of bradyarrhythmias in the CHD population, their timing of occurrence with respect to specific disease entities and interventions, and their short- and long-term clinical sequelae. Copyright © 2017 Elsevier Inc. All rights reserved.

  3. 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/.

  4. Heart transplantation in adults with congenital heart disease.

    Science.gov (United States)

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

    2017-05-01

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

  5. The changing epidemiology of congenital heart disease

    NARCIS (Netherlands)

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

    2011-01-01

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

  6. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

    ... MW, Willems PJ. Genetic factors in non-syndromic congenital heart malformations. Clin Genet. 2010 Aug;78(2):103-23. doi: 10.1111/j.1399-0004.2010.01435.x. Epub 2010 May 17. Review. Citation on ... genes in congenital heart disease. Nature. 2013 Jun 13;498(7453): ...

  7. Cardiac Arrhythmias In Congenital Heart Diseases

    Directory of Open Access Journals (Sweden)

    Paul Khairy

    2009-11-01

    Full Text Available Arrhythmias figure prominently among the complications encountered in the varied and diverse population of patients with congenital heart disease, and are the leading cause of morbidity and mortality. The incidence generally increases as the patient ages, with multifactorial predisposing features that may include congenitally malformed or displaced conduction systems, altered hemodynamics, mechanical or hypoxic stress, and residual or postoperative sequelae. The safe and effective management of arrhythmias in congenital heart disease requires a thorough appreciation for conduction system variants, arrhythmia mechanisms, underlying anatomy, and associated physiology. We, therefore, begin this review by presenting the scope of the problem, outlining therapeutic options, and summarizing congenital heart disease-related conduction system anomalies associated with disorders of the sinus node and AV conduction system. Arrhythmias encountered in common forms of congenital heart disease are subsequently discussed. In so doing, we touch upon issues related to risk stratification for sudden death, implantable cardiac devices, catheter ablation, and adjuvant surgical therapy.

  8. Cardiovascular magnetic resonance in congenital heart disease

    International Nuclear Information System (INIS)

    Cazacu, A.; Ciubotaru, A.

    2010-01-01

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

  9. Genetics of congenital heart disease.

    Science.gov (United States)

    Edwards, Jonathan J; Gelb, Bruce D

    2016-05-01

    The goal of this review is to highlight recent discoveries in the field of genetics as it relates to congenital heart disease (CHD). Recent advancements in next generation sequencing technology and tools to interpret this growing body of data have allowed us to refine our understanding of the molecular mechanisms that result in CHD. From multiple different study designs, the genetic lesions that cause CHD are increasingly being elucidated. Of the more novel findings, a forward genetic screen in mice has implicated recessive inheritance and the ciliome broadly in CHD pathogenesis. The developmental delays frequently observed in patients with CHD appear to result from mutations affecting genes that overlap heart and brain developmental regulation. A meta-analysis has provided clarity, discriminating pathologic from incidental copy number variations and defining a critical region or gene. Recent technological advances have rapidly expanded our understanding of CHD genetics, and support the applicability to the clinical domain in both sporadic and inherited disease. Though significant gaps remain, genetic lesions remain the primary explanation for CHD pathogenesis, although the precise mechanism is likely multifactorial.

  10. Congenital Heart Diseases associated with Identified Syndromes ...

    African Journals Online (AJOL)

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

  11. 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.

  12. Congenital Heart Defects and Physical Activity

    Science.gov (United States)

    ... make you breath heavily. Examples include brisk walking, swimming, biking, jogging, rowing, cross-country skiing, hiking or ... the lungs; and it often means there's more force on the chest wall, and many congenital heart ...

  13. Employment after heart transplantation among adults with congenital heart disease.

    Science.gov (United States)

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

    2017-12-01

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

  14. Anticoagulation in adults with congenital heart disease

    DEFF Research Database (Denmark)

    Jensen, A S; Idorn, L; Nørager, B

    2015-01-01

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

  15. What Are Congenital Heart Defects?

    Science.gov (United States)

    ... of a Normal Heart and a Heart With Tetralogy of Fallot Figure A shows the structure and blood flow ... shows a heart with the four defects of tetralogy of Fallot. Babies and children who have tetralogy of Fallot ...

  16. Adult congenital heart disease: the patient's perspective.

    Science.gov (United States)

    Verstappen, Amy; Pearson, Disty; Kovacs, Adrienne H

    2006-11-01

    This article presents the adult congenital heart disease (ACHD) patient "voice" by high-lighting issues and challenges commonly identified in peer support forums but rarely addressed in the existing literature. Representative patient quotations are provided, and relevant research on patient education and psychosocial function is referenced. Issues discussed include the provision of overly pessimistic and overly optimistic prognoses, common patient misperceptions and knowledge gaps, frustrations and dangerous encounters in the medical system, and living with invisible disabilities. Patient self-perception of congenital heart disease, the gifts of congenital heart disease, and the role of patient associations are also discussed. For each issue identified, implications for the ACHD health professional are outlined and recommendations for best practices are made.

  17. Cyanotic Congenital Heart Defects – literature review

    Directory of Open Access Journals (Sweden)

    Vlad Drăgoi

    2017-11-01

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

  18. Epidemiology of congenital heart disease in Brazil

    Directory of Open Access Journals (Sweden)

    Valdester Cavalcante Pinto Júnior

    2015-04-01

    Full Text Available AbstractIntroduction:Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007.Objective:To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes.Methods:The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables.Results:The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498; atrial septal defect (4,693; persistent ductus arteriosus (2,490; pulmonary stenosis (1,431; tetralogy of Fallot (973; coarctation of the aorta (973; transposition of the great arteries (887; and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults.Conclusion:In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration.

  19. Changing Landscape of Congenital Heart Disease.

    Science.gov (United States)

    Bouma, Berto J; Mulder, Barbara J M

    2017-03-17

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

  20. 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

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

    African Journals Online (AJOL)

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

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

    African Journals Online (AJOL)

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

  3. Employment in adults with congenital heart disease

    NARCIS (Netherlands)

    Kamphuis, Mascha; Vogels, Ton; Ottenkamp, Jaap; van der Wall, Ernst E.; Verloove-Vanhorick, S. Pauline; Vliegen, Hubert W.

    2002-01-01

    To evaluate job participation, career-related problems, and actual job problems in adults with complex congenital heart disease (CHD) compared with adults with mild CHD and reference groups. Cross-sectional study. Patients were randomly selected from the archives of the Department of Pediatric

  4. Employment in adults with congenital heart disease

    NARCIS (Netherlands)

    Kamphuis, M.; Vogels, T.; Ottenkamp, J.; Wall, E.E. van der; Verloove-Vanhorick, S.P.; Vliegen, H.W.

    2002-01-01

    Objective: To evaluate job participation, careerrelated problems, and actual job problems in adults with complex congenital heart disease (CHD) compared with adults with mild CHD and reference groups. Design: Cross-sectional study. Setting: Patients were randomly selected from the archives of the

  5. The right side in congenital heart disease

    NARCIS (Netherlands)

    Schuuring, M.J.

    2014-01-01

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

  6. Cyanotic congenital heart disease and atherosclerosis

    DEFF Research Database (Denmark)

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

    2017-01-01

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

  7. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... diagnosed until the teen years — or even adulthood. Newborn Screening Newborns in the U.S. are screened at ... Has a Heart Defect Coarctation of the Aorta Arrhythmias Mitral Valve Prolapse Atrial Septal Defect Ventricular Septal ...

  8. Congenital Heart Defects and CCHD

    Science.gov (United States)

    ... procedures with catheters (thin, flexible tubes) can fix medium and large ASDs. Heart surgery may be needed ... parts. Conditions in your everyday life (lifestyle and environment) Some things in your life and environment (where ...

  9. 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.)

  10. 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.

  11. Interactive Whole-Heart Segmentation in Congenital Heart Disease.

    Science.gov (United States)

    Pace, Danielle F; Dalca, Adrian V; Geva, Tal; Powell, Andrew J; Moghari, Mehdi H; Golland, Polina

    2015-10-01

    We present an interactive algorithm to segment the heart chambers and epicardial surfaces, including the great vessel walls, in pediatric cardiac MRI of congenital heart disease. Accurate whole-heart segmentation is necessary to create patient-specific 3D heart models for surgical planning in the presence of complex heart defects. Anatomical variability due to congenital defects precludes fully automatic atlas-based segmentation. Our interactive segmentation method exploits expert segmentations of a small set of short-axis slice regions to automatically delineate the remaining volume using patch-based segmentation. We also investigate the potential of active learning to automatically solicit user input in areas where segmentation error is likely to be high. Validation is performed on four subjects with double outlet right ventricle, a severe congenital heart defect. We show that strategies asking the user to manually segment regions of interest within short-axis slices yield higher accuracy with less user input than those querying entire short-axis slices.

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

    Science.gov (United States)

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2017-04-01

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

  13. Early extubation after congenital heart surgery

    Directory of Open Access Journals (Sweden)

    Mirza Halimić

    2014-12-01

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

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

    Science.gov (United States)

    Mazor Dray, Efrat; Marelli, Ariane J

    2015-11-01

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

  15. 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.

  16. Pulmonary Hypertension in Congenital Heart Disease: Beyond Eisenmenger Syndrome.

    Science.gov (United States)

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

    2015-11-01

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

  17. 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.

  18. Occupational risk factors for congenital heart disease.

    Science.gov (United States)

    Tikkanen, J; Heinonen, O P

    1992-01-01

    To investigate possible associations between cardiovascular malformations and maternal occupational exposure to various factors during the first trimester of pregnancy, 406 cases and 756 controls were studied retrospectively. The cases were taken from all infants diagnosed with cardiovascular malformations born in Finland during 1982 and 1983. The controls were randomly selected from all normal births in the country during the same period. All mothers were interviewed approximately 3 months after delivery by a midwife, using a structured questionnaire. Maternal overall exposure to chemicals at work was more prevalent among the case group (35.8%) than the control group (26.2%, P less than 0.01). Among the specific chemical groups, maternal exposure to dyes, lacquers, or paints was significantly associated with the risk of congenital heart disease. Exposure to organic solvents during the first trimester seemed to increase to risk of ventricular septal defect (P less than 0.05). Work at video display terminals was slightly more prevalent among the case group (6.3%) than among the control group (5.0%). The mothers' education level, regular exposure to passive smoking at work, or temperature at the workplace were not risk factors for congenital heart disease in the offspring, neither was maternal exposure to microwave ovens, disinfectants, pesticides, or anesthetic gases. It is concluded that many maternal exposures at work seem not to have a teratogenic effect on the fetal heart, although the limited power of this investigation needs to be borne in mind.

  19. Overview of adult congenital heart transplants

    Science.gov (United States)

    Morales, David

    2018-01-01

    Transplantation for adult patients with congenital heart disease (ACHD) is a growing clinical endeavor in the transplant community. Understanding the results and defining potential high-risk patient subsets will allow optimization of patient outcomes. This review summarizes the scope of ACHD transplantation, the mechanisms of late ventricular dysfunction, the ACHD population at risk of developing heart failure, the indications and potential contraindications for transplant, surgical considerations, and post-transplant outcomes. The findings reveal that 3.3% of adult heart transplants occur in ACHD patients. The potential mechanisms for the development of late ventricular dysfunction include a morphologic systemic right ventricle, altered coronary perfusion, and ventricular noncompaction. The indications for transplant in ACHD patients include systemic ventricular failure refractory medical therapy, Fontan patients failing from chronic passive pulmonary circulation, and progressive cyanosis leading to functional decline. Transplantation in ACHD patients can be quite complex and may require extensive reconstruction of the branch pulmonary arteries, systemic veins, or the aorta. Vasoplegia, bleeding, and graft right ventricular dysfunction can complicate the immediate post-transplant period. The post-transplant operative mortality ranges between 14% and 39%. The majority of early mortality occurs in ACHD patients with univentricular congenital heart disease. However, there has been improvement in operative survival in more contemporary studies. In conclusion, the experience with cardiac transplantation for ACHD patients with end-stage heart failure is growing, and high-risk patient subsets have been defined. Significant strides have been made in developing evidence-based guidelines of indications for transplant, and the intraoperative management of complex reconstruction has evolved. With proper patient selection, more aggressive use of mechanical circulatory support

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

    NARCIS (Netherlands)

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

    2007-01-01

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

  1. 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......., Interact Cardiovasc Thorac Surg 5:536–539, 2006; Sorensen et al., Pediatr Radiol 38:1314–1322, 2008). This chapter serves as an introduction to virtual surgery for patient-specific preoperative planning and teaching of cardiovascular anatomy and interventions for clinicians. The chapter is mainly based...

  2. 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

  3. Risk factors predisposing to congenital heart defects

    International Nuclear Information System (INIS)

    Ul Haq, Faheem; Jalil, Fatima; Hashmi, Saman; Jumani, Maliha Iqbal; Imdad, Aamer; Jabeen, Mehnaz; Hashmi, Javad Tauseef; Irfan, Furqan Bin; Imran, Muhammad; Atiq, Mehnaz

    2011-01-01

    Congenital heart disease (CHD) is associated with multiple risk factors, consanguinity may be one such significant factor. The role of consanguinity in the etiology of CHD is supported by inbreeding studies, which demonstrate an autosomal recessive pattern of inheritance of some congenital heart defects. This study was done to find out the risk factors for CHD. A case-control study was done on pediatric patients at a tertiary care hospital, Aga Khan University Hospital, located in Karachi, Pakistan. A total of 500 patients, 250 cases and 250 controls were included in the study. Amongst the 250 cases (i.e. those diagnosed with CHD), 122 patients (48.8%) were born of consanguineous marriages while in the controls (i.e. non-CHD) only 72 patients (28.9%) showed a consanguinity amongst parents. On multivariate analysis, consanguinity emerged as an independent risk factor for CHD; adjusted odds ratio 2.59 (95% C. I. 1.73 - 3.87). Other risk factors included low birth weight, maternal co-morbidities, family history of CHD and first born child. On the other hand, medications used by the mother during the index pregnancy, maternal age and gender of the child did not significantly increase the risk of developing CHD. Analyses of our results show that parental consanguinity, family history of CHD, maternal co-morbidities, first born child and low birth weight are independent risk factors for CHD

  4. Imaging congenital heart disease in adults.

    Science.gov (United States)

    Kilner, P J

    2011-12-01

    Transthoracic echocardiography is the first-line modality for cardiovascular imaging in adults with congenital heart disease (ACHD). The windows of access that are possible with transthoracic echocardiography are, however, rarely adequate for all regions of interest. The choice of further imaging depends on the clinical questions that remain to be addressed. The strengths of MRI include comprehensive access and coverage, providing imaging of all parts of the right ventricle, the pulmonary arteries, pulmonary veins and aorta. Cine images and velocity maps are acquired in specifically aligned planes, with stacks of cines or dynamic contrast angiography providing more comprehensive coverage. Tissues can be characterised if necessary, and MRI provides relatively accurate measurements of biventricular function and volume flow. These parameters are important in the assessment and follow-up of adults after repairs for tetralogy of Fallot or transposition of the great arteries and after Fontan operations. The superior spatial resolution and rapid acquisition of CT are invaluable in selected situations, including the visualisation of anomalous coronary or aortopulmonary collateral arteries, the assessment of luminal patency after stenting and imaging in patients with pacemakers. Ionising radiation is, however, a concern in younger patients who may need repeated investigation. Adults with relatively complex conditions should ideally be imaged in a specialist ACHD centre, where dedicated echocardiographic and cardiovascular MRI services are a necessary facility. General radiologists should be aware of the nature and pathophysiology of congenital heart disease, and should be alert for previously undiagnosed cases presenting in adulthood, including cases of atrial septal defect, aortic coarctation, patent ductus arteriosus, double-chambered right ventricle and congenitally corrected transposition.

  5. The trace elements in congenital cyanotic heart disease

    Directory of Open Access Journals (Sweden)

    Mohamed Ali Hegazi

    2014-03-01

    Conclusion: Congenital cyanotic heart disease were associated with a highly significant decrease in the mean serum selenium and zinc levels, when compared with control group and non significant increase the mean serum copper levels. Changes in these trace elements suggested to play an important role in the pathogenesis of myocardial damage in congenital cyanotic heart disease.

  6. The renin–angiotensin–aldosterone-system and right heart failure in congenital heart disease

    OpenAIRE

    Stine Andersen, Stine Andersen; Andersen, Asger; Nielsen-Kudsk, Jens Erik

    2017-01-01

    Adults with congenital heart disease represent a rapidly growing patient group. Dysfunction of the right ventricle is often present, and right heart failure constitutes the main cause of death. Heart failure therapies used in acquired left heart failure are often initiated in adults with right heart failure due to congenital heart disease, but the right ventricle differs substantially from the left ventricle, and the clinical evidence for this treatment strategy is lacking. In this review,...

  7. Xenopus: An Emerging Model for Studying Congenital Heart Disease

    Science.gov (United States)

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

    2011-01-01

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

  8. [Sports in children with congenital heart diseases].

    Science.gov (United States)

    Bosser, Gilles; Moulin-Zinsch, Anne; Fischer-Atalla, Reem

    2017-05-01

    The practice of physical activity is one of the essential elements for health in general but also for the well-being and the quality of life. It is highly desirable to encourage physical activities in children with congenital heart diseases, taking into account all the benefits associated with this practice (quality of life, life expectancy) and this especially since these children often have limited capacity (due to their heart disease but also often by relative deconditioning). While there is a transient increase in risk of cardiac complications during intense activity, it would nevertheless be inappropriate to contra-indicate physical activities considering the well-known benefits in the medium and long term. The risks associated with the practice of physical activity must be assessed, on one hand, in terms of the severity of the heart disease, and on the other hand, on the nature and intensity of the activity. The stress test is here an essential tool because it helps to assess the physical capacity and cardiorespiratory adaptations to exercise. The international recommendations for competitive sports generally give an appropriate advice for a specific situation but the practice of moderate activity or leisure sports which are highly desirable should not be neglected and be strongly encouraged. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  9. 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.

  10. Chance of surgery in adult congenital heart disease.

    Science.gov (United States)

    Verheugt, Carianne L; Uiterwaal, Cuno Spm; 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 Jm

    2017-08-01

    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 18 years could predict the chance of congenital heart surgery in adulthood. Design and methods Of 10,300 patients from the CONCOR national registry, we used general patient characteristics at age 18 years, underlying congenital heart defect, history of complications, and interventions in childhood as potential predictors of congenital heart surgery occurring from age 18 years up to age 40 and 60 years. Cox regression was used to calculate hazard ratios with 95% confidence intervals. Analyses were performed separately for all congenital heart surgery and for valvular surgery alone. Results Altogether 2427 patients underwent congenital heart surgery after age 18 years, 1389 of whom underwent valvular surgery. Underlying heart defect, male sex, multiple defects, childhood endocarditis, supraventricular arrhythmia, aortic complications and paediatric cardiovascular surgery, independently predicted adult congenital heart surgery. The mean chance of congenital heart surgery was 22% up to age 40 and 43% up to age 60 years; individual chances spanned from 9-68% up to age 40 and from 19-93% up to age 60 years. Conclusion At the time of transition from paediatric to adult cardiology, an easily obtainable set of characteristics of patients with congenital heart disease can meaningfully inform cardiologists about the patient's individual chance of surgery in adulthood. Our findings warrant validation in other cohorts.

  11. 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

    2017-11-01

    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.

  12. Genetics and Genomics of Congenital Heart Disease

    Science.gov (United States)

    Zaidi, Samir; Brueckner, Martina

    2017-01-01

    Congenital heart disease is the most common birth defect, and due to major advances in medical and surgical management, there are now more adults living with CHD than children. Until recently, the cause of the majority of CHD was unknown. Advances in genomic technologies have discovered the genetic etiology of a significant fraction of CHD, while at the same time pointing to remarkable complexity in CHD genetics. This review will focus on the evidence for genetic causes underlying CHD and discuss data supporting both monogenic and complex genetic mechanisms underlying CHD. The discoveries from CHD genetic studies draw attention to biological pathways that simultaneously open the door to a better understanding of cardiac development, and impact clinical care of CHD patients. Finally, we address clinical genetic evaluation of patients and families affected by CHD. PMID:28302740

  13. Increased arterial stiffness in children with congenital heart disease.

    Science.gov (United States)

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

    2018-01-01

    Objective Central systolic blood pressure (SBP) is a measure of arterial stiffness and strongly associated with atherosclerosis and end-organ damage. It is a stronger predictor of cardiovascular events and all-cause mortality than peripheral SBP. In particular, for children with congenital heart disease, a higher central SBP might impose a greater threat of cardiac damage. The aim of the study was to analyse and compare central SBP in children with congenital heart disease and in healthy counterparts. Patients and methods Central SBP was measured using an oscillometric method in 417 children (38.9% girls, 13.0 ± 3.2 years) with various congenital heart diseases between July 2014 and February 2017. The test results were compared with a recent healthy reference cohort of 1466 children (49.5% girls, 12.9 ± 2.5 years). Results After correction for several covariates in a general linear model, central SBP of children with congenital heart disease was significantly increased (congenital heart disease: 102.1 ± 10.2 vs. healthy reference cohort: 100.4 ± 8.6, p congenital heart disease subgroups revealed higher central SBP in children with left heart obstructions (mean difference: 3.6 mmHg, p hearts after total cavopulmonary connection (mean difference: 2.1 mmHg, p = .015) compared with the reference. Conclusion Children with congenital heart disease have significantly higher central SBP compared with healthy peers, predisposing them to premature heart failure. Screening and long-term observations of central SBP in children with congenital heart disease seems warranted in order to evaluate the need for treatment.

  14. Congenital heart disease and chromossomopathies detected by the karyotype.

    Science.gov (United States)

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

    2014-06-01

    To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. 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. 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. 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.

  15. 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.

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

    African Journals Online (AJOL)

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

  17. Genetics of Congenital Heart Malformations: Clinical and Molecular Studies

    NARCIS (Netherlands)

    M.W. Wessels (Marja)

    2009-01-01

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

  18. Screening for congenital heart malformation in child health centres

    NARCIS (Netherlands)

    R.E. Juttmann (Rikard); J. Hess (Jakob); C.W.N. Looman (Caspar); G.J. van Oortmarssen (Gerrit); P.J. van der Maas (Paul)

    1998-01-01

    textabstractBACKGROUND: Although screening for congenital heart malformations is part of the child health care programme in several countries, there are very few published evaluations of these activities. This report is concerned with the evaluation of this screening at

  19. Parental reactions to children with congenital heart disease.

    Science.gov (United States)

    Garson, A; Benson, R S; Ivler, L; Patton, C

    1978-01-01

    Informal discussions with 260 families of children with congenital heart disease are reported. Parents raised questions concerning etiology, timing of the diagnosis, pathophysiology and symptomatology, and need for restriction. Depending upon the stage and seriousness of the disease, common parental behavior was observed. A psychological process similar to mourning is required at the time of diagnosis and at the time of corrective surgery in order to promote the family's adaptation to the child with congenital heart disease. Management suggestions are included.

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

    Science.gov (United States)

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

    2017-08-01

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

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

    NARCIS (Netherlands)

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

    2016-01-01

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

  2. Nocturnal breathing in cyanotic congenital heart disease.

    Science.gov (United States)

    Legault, Sylvie; Lanfranchi, Paola; Montplaisir, Jacques; Nielsen, Tore; Dore, Annie; Khairy, Paul; Marcotte, François; Mercier, Lise-Andrée

    2008-08-18

    Sleep disordered breathing is frequently observed in patients with cardiovascular disease. Even in the absence of heart disease, acute and chronic hypoxia have been shown to promote sleep-related periodic breathing with central apnea characterized by a repetitive reduction or lack of respiratory activity. Cyanotic congenital heart disease (CCHD) is associated with chronic hypoxia, regardless of whether an increase in pulmonary artery pressures coexists. Sleep aggravated hypoxia has been observed in many such patients, but it remains to be determined whether sleep disordered breathing is contributory. We, therefore, sought to assess sleep-related breathing pattern in patients with CCHD. Adults with CCHD, resting arterial oxygen saturation 40% were prospectively enrolled in a cross-sectional study. To assess sleep and respiratory indices, subjects underwent a standardized clinical appraisal that included arterial blood gas analysis and a comprehensive sleep study with an ambulatory device. An apnea-hypopnea index (AHI) >or=5/h was considered to indicate sleep apnea. Ten adults with CCHD, aged 38+/-11 years, completed the study. Seven patients had elevated pulmonary artery pressures, with a mean systolic pressure of 86.3+/-18.1 mm Hg. All patients demonstrated normal sleep parameters. Oxygen saturation further declined in 5 patients during sleep. However, no associated alteration in respiratory parameters was observed and no significant arrhythmia. The mean AHI was 1.1+/-1.0/h. No subject met the pre-defined criterion for sleep apnea. Although further oxygen desaturation may be observed during sleep in patients with CCHD, it occurs in the absence of sleep disordered breathing.

  3. 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.

  4. Genomic imbalances in syndromic congenital heart disease.

    Science.gov (United States)

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

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

  5. Genomic imbalances in syndromic congenital heart disease,

    Directory of Open Access Journals (Sweden)

    Miriam Coelho Molck

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

  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. Congenital heart defects in children with oral clefts

    Directory of Open Access Journals (Sweden)

    Nahvi H.

    2007-09-01

    Full Text Available   Background: Oral clefts are among the most common congenital anomalies. Infants with oral clefts often have other associated congenital defects, especially congenital heart defects. The reported incidences and the types of associated malformations and congenital heart defects vary between different studies. The purpose of this study was to assess the incidence of associated congenital heart defects in children with oral clefts. Methods: All infants with cleft lip and palate referred to the Children's Medical Center and Bahramy; the teaching Hospitals of the Tehran University of Medical Sciences from 1991 to 2005 were prospectively enrolled in this study group. All patients were examined and noted by an academic cleft team contain; a pediatrician and a pediatric surgeon, and received cardiac consultation and echocardiography by a pediatric cardiologist. non cardiac associated anomalies, still born and patients without echocardiography were excluded from the study.  Data including age, gender, exposure to contagions and high risk elements ,consanguinity and familial history of oral cleft, type of oral cleft, results of cardiac consultation and echocardiography and associated cardiac anomalies were cumulated and analyzed by SSPS version 13.5Results: Among the 284 infants with oral clefts, 162 were male (57% and 122 were female (43%. Seventy-nine patients (27.8% had cleft lip, 84 (29.5% had cleft palate and 121 (42.6% had both cleft lip and palate. Of all the patients, 21.1% had congenital heart defects. the most common type Of these congenital heart defects(28.3%  was atrial septal defect.Conclusions: For patients with cleft lip and palate, we recommend preoperative cardiac consultation, careful examination and routine echocardiography for associated cardiac anomalies, as well as appropriate management and prophylactic antibiotic therapy for those with associated congenital heart anomaly.

  8. Serum zinc values in children with congenital heart disease | Sadoh ...

    African Journals Online (AJOL)

    Background: Some children with congenital heart diseases (CHD) may have increased pulmonary blood flow that causes recurrent bronchopneumonia and congestive heart failure. Serum zinc is reduced in children with pneumonia and patients on diuretics. Objective: To evaluate the serum zinc level of children with CHD ...

  9. Heartbeat sensitivity in adults with congenital heart disease

    NARCIS (Netherlands)

    Rietveld, Simon; Karsdorp, Petra A.; Mulder, Barbara J. M.

    2004-01-01

    This study tested the hypothesis that patients with a congenital heart disease are sensitive regarding heartbeat perception, reflected in enhanced attention for heartbeat, estimation of own heart rate, and a vulnerability to become anxious by listening to heartbeat sounds. Twenty adults with a

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

    African Journals Online (AJOL)

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

  11. Increasing mortality burden among adults with complex congenital heart disease.

    Science.gov (United States)

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

    2015-01-01

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

  12. 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.

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

    Science.gov (United States)

    Moore, Jeremy P; Aboulhosn, Jamil A

    2017-06-01

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

  14. Significance of MR imaging in congenital heart disease

    International Nuclear Information System (INIS)

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

    1989-01-01

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

  15. 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.

  16. Arsenic in drinking water and congenital heart anomalies in Hungary.

    Science.gov (United States)

    Rudnai, Tamás; Sándor, János; Kádár, Mihály; Borsányi, Mátyás; Béres, Judit; Métneki, Júlia; Maráczi, Gabriella; Rudnai, Péter

    2014-11-01

    Inorganic arsenic can get easily through the placenta however there are very few human data on congenital anomalies related to arsenic exposure. Objective of our study was to explore the associations between arsenic content of drinking water and prevalence of some congenital anomalies. Four anomalies reported to the Hungarian Congenital Anomalies Registry between 1987 and 2003 were chosen to be analysed in relation to arsenic exposure: congenital anomalies of the circulatory system (n=9734) were considered as cases, while Down syndrome, club foot and multiple congenital malformations were used as controls (n=5880). Arsenic exposure of the mothers during pregnancy was estimated by using archive measurement data for each year and for each settlement where the mothers lived. Analysis of the associations between the prevalence of congenital heart anomalies and arsenic exposure during pregnancy was performed by logistic regression. The child's gender and age of the mother were adjusted for. The associations were evaluated by using the present EU health limit value of 10.0 μg/L arsenic concentration as a cut-off point. Regular consumption of drinking water with arsenic concentration above 10 μg/L during pregnancy was associated with an increased risk of congenital heart anomalies in general (adjusted OR=1.41; 95% C.I.: 1.28-1.56), and especially that of ductus Botalli persistens (adjusted OR=1.81, 95%C.I.: 1.54-2.11) and atrial septal defect (adjusted OR=1.79; 95%C.I.: 1.59-2.01). The presented results showed an increased risk of congenital heart anomalies among infants whose mothers were exposed to drinking water with arsenic content above 10 μg/L during pregnancy. Further studies of possible similar effects of concentrations below 10 μg/L are warranted. Copyright © 2014 Elsevier GmbH. All rights reserved.

  17. 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.

  18. Obstetric and perinatal aspects in patients with congenital heart diseases

    Directory of Open Access Journals (Sweden)

    Tenilson Amaral Oliveira

    Full Text Available The benefits of surgical treatment for patients with congenital heart disease in relation to pregnancy are still controversial. We studied 48 pregnant women (mean age = 25 years with surgically-corrected congenital heart diseases (Group 1. This included 15 cyanotic diseases: Fallot's tetralogy (11 cases; Ebstein's anomaly (2 cases; transposition of the great arteries (1 case; and double outlet of the right ventricle (1 case. We compared them to 52 pregnant women (mean age = 26 years with untreated congenital heart diseases, which included 11 cases of Eisenmenger's syndrome (Group 2. Group 2 showed a higher incidence of maternal death (12 vs. 0 percent; p=0.01, perinatal mortality (15 vs. 0 percent; p=0.01 and prematurity (32 vs. 7 percent; p=0.01. Spontaneous abortion (4 vs. 10 percent, Caesarean deliveries (48 vs. 66 percent or growth retardation (13 vs. 28 percent did not present any significant differences between these groups. Surgical treatment in patients with heart diseases is associated with a better maternal and fetal prognosis. Therefore, surgery must be considered when counseling patients with congenital heart diseases.

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

    Science.gov (United States)

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

    2018-01-01

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

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

    Science.gov (United States)

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

    2018-01-01

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

  1. Congenital heart disease in the dog

    International Nuclear Information System (INIS)

    Matic, S.E.

    1988-01-01

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

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

    OpenAIRE

    Venkata Arunavalli; Imamuddin; Udaykiran

    2015-01-01

    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 r...

  3. 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.

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

    NARCIS (Netherlands)

    Mulder, B. J. M.

    2010-01-01

    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

  5. Occupational challenges of young adult patients with congenital heart disease

    NARCIS (Netherlands)

    Sluman, M. A.; de Man, S.; Mulder, B. J. M.; Sluiter, J. K.

    2014-01-01

    Background Despite improved survival of adults with congenital heart disease (CHD), higher rates of unemployment and work-related problems are seen, especially among younger adults. This study was performed to gain insight into current barriers and facilitating experiences at work among young adult

  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. Profile of congenital heart defects among children at Aminu Kano ...

    African Journals Online (AJOL)

    Profile of congenital heart defects among children at Aminu Kano Teaching Hospital, Kano, Nigeria. ... VSD and TOF are the most common, accounting for about half of the cases with CHDs. There is an urgent need for government and non.government organizations to establish well.equipped cardiothoracic surgical centes ...

  8. Pattern of congenital heart defects in children with Down syndrome ...

    African Journals Online (AJOL)

    Down syndrome (DS) is the most common chromosomal abnormality in man and congenital heart defects (CHD) the most life threatening of its manifestations. The cardiac anomalies and early pulmonary hypertension are associated with high morbidity and mortality. It is thus important to diagnose and intervene early to ...

  9. 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…

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

    NARCIS (Netherlands)

    Mulder, B. J. M.

    2012-01-01

    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

  11. Genetics and inheritance issues in congenital heart disease

    NARCIS (Netherlands)

    van Engelen, K.

    2013-01-01

    Congenital heart disease (CHD) is among the most common birth defects, occurring in approximately 8 per 1,000 live births. It leads to significant morbidity and mortality in children as well as adults. Due to improvements in cardiac surgery and medical care, nowadays approximately 90% of CHD

  12. Congenital malformation of the systemic heart of Sepia officinalis l ...

    African Journals Online (AJOL)

    Numerous preparations of the circulatory system of Sepia officinalis L. caught from the Bay of Arcachon (Atlantic Coast of France) in 1989 and 1996 showed an obvious congenital malformation of the systemic heart complex. The malformation consisted of a cord- or truncus-like structure at the left cranio-apical ventricle.

  13. Junctional ectopic tachycardia following repair of congenital heart ...

    African Journals Online (AJOL)

    Background: Postoperative junctional ectopic tachycardia (JET) is a rare and transient phenomenon occurring after repair of congenital heart defects. Report on this arrhythmia in the subregion is rare. We set out to determine the incidence of this arrhythmia and review the treatment and outcomes of treatment in our centre.

  14. 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...

  15. Serum zinc values in children with congenital heart disease

    African Journals Online (AJOL)

    EB

    2013-09-03

    Sep 3, 2013 ... Benin City, Nigeria. Abstract. Background: Some children with congenital heart diseases (CHD) may have increased pulmonary blood flow that causes ... to be involved in growth and development; its deficiency is associated with ..... children: double-blind placebo controlled trial. Lancet 2004; 22: 363: 1683 ...

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

    African Journals Online (AJOL)

    EB

    2013-09-03

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

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

    African Journals Online (AJOL)

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

  18. Pattern of congenital heart disease in Ilorin, Nigeria.

    Science.gov (United States)

    Kolo, P M; Adeoye, P O; Omotosho, A B; Afolabi, J K

    2012-12-01

    This study aimed at determining the frequencies and pattern of congenital heart lesions among patients who had echocardiographic scan for various cardiovascular-related complaints at the University of Ilorin Teaching Hospital, Nigeria. All patients referred for echocardiography between May 2004 and April 2007 for various cardiovascular complaints were reviewed. Patients diagnosed with congenital heart disease were selected and analysed for frequencies of lesions, sex ratio and mean age. Seventy-six patients with a diagnosis of congenital heart disease were reviewed. Ventricular septal defect was the commonest lesion; seen in 27.6% of patients followed by atrial septal defect (21.1%), patent ductus arteriosus (13.1%) and tetralogy of Fallot (11.8%). Others were dextrocardia with situs inversus (6.6%) and bicuspid aortic valve (2.6%). The distribution of congenital heart lesions is similar to that reported from other parts of the world except for higher frequency of atrial septal defect and lower incidence of bicuspid aortic valve. There has been an improvement in diagnosis of CHD in the middle belt of Nigeria due to availability of echocardiographic imaging facility even though most patients have no access to surgical correction.

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

    Science.gov (United States)

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

    2017-03-01

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

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

    NARCIS (Netherlands)

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

    2009-01-01

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

  1. 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

  2. Stress-induced heart symptoms and perceptual biases in patients with congenital heart disease

    NARCIS (Netherlands)

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

    2007-01-01

    BACKGROUND: The aim of the present study is to clarify whether biased symptom perception towards heart symptoms may explain a reduced quality of life in patients with congenital heart disease (ConHD). The present study tested the hypothesis that the combination of ConHD and high trait anxiety

  3. The renin–angiotensin–aldosterone-system and right heart failure in congenital heart disease

    Directory of Open Access Journals (Sweden)

    Stine Andersen

    2016-06-01

    To conclude, existing studies do not support the use of RAAS inhibitory treatments in right heart failure due to congenital heart disease but contain important limitations. Hence, there is a need for new well-designed trials including higher numbers of patients and validated endpoints to optimize and guide future treatment of this patient group.

  4. Behaviour Problems in Children with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Beena Johnson

    2015-01-01

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

  5. 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.  

  6. Living with a Congenital Heart Defect

    Science.gov (United States)

    ... Living With Heart Defects Data & Statistics Tracking & Research Articles & Key Findings Free Materials Multimedia and Tools Links to Other Websites ... was followed by a year of a salt-free diet and no school. Having ... I opted to become a software engineer, and took up a career in information ...

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

    International Nuclear Information System (INIS)

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

    1996-01-01

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

  8. 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.

  9. 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.

  10. Assessing the influence of consanguinity on congenital heart disease

    International Nuclear Information System (INIS)

    Bittles, Alan H.

    2011-01-01

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

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

    Science.gov (United States)

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

    2016-03-01

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

  12. Absent pulmonary valve, tricuspid atresia, and congenital heart block.

    Science.gov (United States)

    Juaneda, Ignacio; Rychik, Jack; Fuller, Stephanie; Weinberg, Paul M; Rome, Jonathan J; Mahle, William T; Gaynor, J William

    2015-01-01

    We describe management of a patient with a prenatal diagnosis of absent pulmonary valve, tricuspid atresia, ventricular septal defect, and congenital heart block. Initial treatment consisted of temporary pacemaker implantation, and subsequent palliation included a central shunt during the neonatal period and placement of a permanent pacemaker. At seven months of age, a bidirectional Glenn anastomosis was performed. Cardiac catheterization revealed high cavopulmonary pressures and ventricular dysfunction precluding Fontan completion. Heart transplantation was performed at 3.75 years of age. The patient is alive and well 26 months posttransplantation. © The Author(s) 2014.

  13. 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.

  14. 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.

  15. Postoperative nosocomial infections among children with congenital heart disease

    Science.gov (United States)

    Zhang, Jian; Yuan, Yan; Li, Peiling; Wang, Tuanjie; Gao, Jun; Yao, Jinhua; Li, Shujun

    2014-01-01

    Objective: To study the pathogen distribution, antimicrobial susceptibility and risk factors of postoperative nosocomial infections among children with congenital heart disease. Methods: Three hundreds children with congenital heart disease admitted to our hospital to receive surgeries from February 2010 to February 2013 were selected. Results: A total of 120 children were tested as positive by sputum culture, with the infection rate of 40.0%. The top five most common pathogenic microorganisms included Staphylococcus epidermidis, Staphylococcus aureus, Enterococcus, Pseudomonas aeruginosa, and Candida albicans. S. epidermidis, S. aureus and Enterococcus were highly resistant to penicillin, azithromycin and erythromycin, moderately susceptible to levofloxacin and cefazolin, and completely susceptible to vancomycin. Multivariate Logistic regression analysis showed that hospitalization stay length, combined use of antibiotics, systemic use of hormones, mechanical ventilation and catheter indwelling were the independent risk factors of postoperative nosocomial infections (P<0.05). Conclusion: Nosocomial infection, which was the most frequent postoperative complication of pediatric congenital heart disease, was predominantly induced by Gram-positive bacteria that were highly susceptible to cephalosporins and vancomycin. Particular attention should be paid to decrease relevant risk factors to improve the prognosis. PMID:24948978

  16. Prevalence of Dyslipidemia in Children with Congenital Heart Disease

    International Nuclear Information System (INIS)

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

    2013-01-01

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

  17. Congenital and Acquired Valvular Heart Disease in Pregnancy.

    Science.gov (United States)

    Goldstein, Sarah A; Ward, Cary C

    2017-08-24

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

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

    Science.gov (United States)

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

    2016-06-01

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

  19. 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.

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

    Science.gov (United States)

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

    2011-09-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

  2. Radiation exposure during follow-up of adults with congenital heart disease

    NARCIS (Netherlands)

    Hoffmann, Andreas; Engelfriet, Peter; Mulder, Barbara

    2007-01-01

    Adult patients with congenital heart disease under follow-up often need to undergo diagnostic procedures which expose them to radiation. To evaluate radiation doses in adult patients with congenital heart disease during follow-up. Data on diagnostic procedures were used from the European Heart

  3. Smoking and its effects on mortality in adults with congenital heart disease

    NARCIS (Netherlands)

    Engelfriet, Peter M.; Drenthen, Willem; Pieper, Petronella G.; Tijssen, Jan G. P.; Yap, Sing C.; Boersma, Eric; Mulder, Barbara J. M.

    2008-01-01

    Aims: To describe smoking habits in adults with congenital heart disease (ACHD) and to assess the relationship between smoking exposure and cardiovascular mortality. Methods: Data on smoking history and cardiovascular mortality were extracted from the Euro Heart Survey on adult congenital heart

  4. Smoking and its effects on mortality in adults with congenital heart disease

    NARCIS (Netherlands)

    Engelfriet, Peter M.; Drenthen, Willem; Pieper, Petronella G.; Tijssen, Jan G. P.; Yap, Sing C.; Boersma, Eric; Mulder, Barbara J. M.

    2008-01-01

    AIMS: To describe smoking habits in adults with congenital heart disease (ACHD) and to assess the relationship between smoking exposure and cardiovascular mortality. METHODS: Data on smoking history and cardiovascular mortality were extracted from the Euro Heart Survey on adult congenital heart

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

    Science.gov (United States)

    Simmons, M Abigail; Brueckner, Martina

    2017-10-01

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

  6. Three-dimensional MR imaging of congenital heart disease

    International Nuclear Information System (INIS)

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

    1987-01-01

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

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

    International Nuclear Information System (INIS)

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

    2014-01-01

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

  8. Cardiac Embryology and Molecular Mechanisms of Congenital Heart Disease – A Primer for Anesthesiologists

    Science.gov (United States)

    Kloesel, Benjamin; DiNardo, James A.; Body, Simon C.

    2016-01-01

    Congenital heart disease is diagnosed in 0.4% to 5% of live births and presents unique challenges to the pediatric anesthesiologist. Furthermore, advances in surgical management have led to improved survival of those patients, and many adult anesthesiologists now frequently take care of adolescents and adults who have previously undergone surgery to correct or palliate congenital heart lesions. Knowledge of abnormal heart development on the molecular and genetic level extends and improves the anesthesiologist's understanding of congenital heart disease. In this paper we aim to review current knowledge pertaining to genetic alterations and their cellular effects that are involved in the formation of congenital heart defects. Given that congenital heart disease can currently only occasionally be traced to a single genetic mutation, we highlight some of the difficulties that researchers face when trying to identify specific steps in the pathogenetic development of heart lesions. PMID:27541719

  9. 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.

  10. MR imaging of congenital heart diseases in adolescents and adults

    International Nuclear Information System (INIS)

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

    2001-01-01

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

  11. MR imaging of congenital heart diseases in adolescents and adults

    Energy Technology Data Exchange (ETDEWEB)

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

    2001-09-01

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

  12. Does the Aristotle Score predict outcome in congenital heart surgery?

    Science.gov (United States)

    Kang, Nicholas; Tsang, Victor T; Elliott, Martin J; de Leval, Marc R; Cole, Timothy J

    2006-06-01

    The Aristotle Score has been proposed as a measure of 'complexity' in congenital heart surgery, and a tool for comparing performance amongst different centres. To date, however, it remains unvalidated. We examined whether the Basic Aristotle Score was a useful predictor of mortality following open-heart surgery, and compared it to the Risk Adjustment in Congenital Heart Surgery (RACHS-1) system. We also examined the ability of the Aristotle Score to measure performance. The Basic Aristotle Score and RACHS-1 risk categories were assigned retrospectively to 1085 operations involving cardiopulmonary bypass in children less than 18 years of age. Multiple logistic regression analysis was used to determine the significance of the Aristotle Score and RACHS-1 category as independent predictors of in-hospital mortality. Operative performance was calculated using the Aristotle equation: performance = complexity x survival. Multiple logistic regression identified RACHS-1 category to be a powerful predictor of mortality (Wald 17.7, p Aristotle Score was only weakly associated with mortality (Wald 4.8, p = 0.03). Age at operation and bypass time were also highly significant predictors of postoperative death (Wald 13.7 and 33.8, respectively, p Aristotle Score was only weakly associated with postoperative mortality in this series. Operative performance appeared to be inflated by the fact that the overall complexity of cases was relatively high in this series. An alternative equation (performance = complexity/mortality) is proposed as a fairer and more logical method of risk-adjustment.

  13. Ambient air pollution and congenital heart defects in Lanzhou, China

    International Nuclear Information System (INIS)

    Jin, Lan; Bell, Michelle L; Qiu, Jie; Qiu, Weitao; He, Xiaochun; Wang, Yixuan; Sun, Qingmei; Cui, Hongmei; Liu, Sufen; Tang, Zhongfeng; Chen, Ya; Yue, Li; Da, Zhenqiang; Xu, Xiaoying; Liu, Qing; Zhang, Yaqun; Li, Min; Zhao, Nan; Huang, Huang; Zhang, Yawei

    2015-01-01

    Congenital heart defects are the most prevalent type of birth defects. The association of air pollution with congenital heart defects is not well understood. We investigated a cohort of 8969 singleton live births in Lanzhou, China during 2010–2012. Using inverse distance weighting, maternal exposures to particulate matter with diameters ≤10 μm (PM 10 ), nitrogen dioxide (NO 2 ), and sulfur dioxide (SO 2 ) were estimated as a combination of monitoring station levels for time spent at home and in a work location. We used logistic regression to estimate the associations, adjusting for maternal age, education, income, BMI, disease, folic acid intake and therapeutic drug use, and smoking; season of conception, fuel used for cooking and temperature. We found significant positive associations of Patent Ductus Arteriosus (PDA) with PM 10 during the 1st trimester, 2nd trimester and the entire pregnancy (OR 1st trimester  = 3.96, 95% confidence interval (CI): 1.36, 11.53; OR 2nd trimester  = 3.59, 95% CI: 1.57, 8.22; OR entire pregnancy  = 2.09, 95% CI: 1.21, 3.62, per interquartile range (IQR) increment for PM 10 (IQR = 71.2, 61.6, and 27.4 μg m −3 , respectively)), and associations with NO 2 during 2nd trimester and the entire pregnancy (OR 2nd trimester  = 1.92, 95% CI: 1.11, 3.34; OR entire pregnancy  = 2.32, 95% Cl: 1.14, 4.71, per IQR increment for NO 2 (IQR = 13.4 and 10.9 μg m −3 , respectively)). The associations for congenital malformations of the great arteries and pooled cases showed consistent patterns. We also found positive associations for congenital malformations of cardiac septa with PM 10 exposures in the 2nd trimester and the entire pregnancy, and SO 2 exposures in the entire pregnancy. Results indicate a health burden from maternal exposures to air pollution, with increased risk of congenital heart defects. (letter)

  14. Ambient air pollution and congenital heart defects in Lanzhou, China

    Science.gov (United States)

    Jin, Lan; Qiu, Jie; Zhang, Yaqun; Qiu, Weitao; He, Xiaochun; Wang, Yixuan; Sun, Qingmei; Li, Min; Zhao, Nan; Cui, Hongmei; Liu, Sufen; Tang, Zhongfeng; Chen, Ya; Yue, Li; Da, Zhenqiang; Xu, Xiaoying; Huang, Huang; Liu, Qing; Bell, Michelle L.; Zhang, Yawei

    2015-07-01

    Congenital heart defects are the most prevalent type of birth defects. The association of air pollution with congenital heart defects is not well understood. We investigated a cohort of 8969 singleton live births in Lanzhou, China during 2010-2012. Using inverse distance weighting, maternal exposures to particulate matter with diameters ≤10 μm (PM10), nitrogen dioxide (NO2), and sulfur dioxide (SO2) were estimated as a combination of monitoring station levels for time spent at home and in a work location. We used logistic regression to estimate the associations, adjusting for maternal age, education, income, BMI, disease, folic acid intake and therapeutic drug use, and smoking; season of conception, fuel used for cooking and temperature. We found significant positive associations of Patent Ductus Arteriosus (PDA) with PM10 during the 1st trimester, 2nd trimester and the entire pregnancy (OR 1st trimester = 3.96, 95% confidence interval (CI): 1.36, 11.53; OR 2nd trimester = 3.59, 95% CI: 1.57, 8.22; OR entire pregnancy = 2.09, 95% CI: 1.21, 3.62, per interquartile range (IQR) increment for PM10 (IQR = 71.2, 61.6, and 27.4 μg m-3, respectively)), and associations with NO2 during 2nd trimester and the entire pregnancy (OR 2nd trimester = 1.92, 95% CI: 1.11, 3.34; OR entire pregnancy = 2.32, 95% Cl: 1.14, 4.71, per IQR increment for NO2 (IQR = 13.4 and 10.9 μg m-3, respectively)). The associations for congenital malformations of the great arteries and pooled cases showed consistent patterns. We also found positive associations for congenital malformations of cardiac septa with PM10 exposures in the 2nd trimester and the entire pregnancy, and SO2 exposures in the entire pregnancy. Results indicate a health burden from maternal exposures to air pollution, with increased risk of congenital heart defects.

  15. The Congenital Heart Disease Genetic Network Study: Cohort description.

    Directory of Open Access Journals (Sweden)

    Thanh T Hoang

    Full Text Available The Pediatric Cardiac Genomics Consortium (PCGC designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs cohort. This article describes the PCGC cohort, overall and by major types of CHDs (e.g., conotruncal defects and subtypes of conotrucal heart defects (e.g., tetralogy of Fallot and left ventricular outflow tract obstructions (e.g., hypoplastic left heart syndrome. Cases with CHDs were recruited through ten sites, 2010-2014. Information on cases (N = 9,727 and their parents was collected through interviews and medical record abstraction. Four case characteristics, eleven parental characteristics, and thirteen parent-reported neurodevelopment outcomes were summarized using counts and frequencies and compared across CHD types and subtypes. Eleven percent of cases had a genetic diagnosis. Among cases without a genetic diagnosis, the majority had conotruncal heart defects (40% or left ventricular outflow tract obstruction (21%. Across CHD types, there were significant differences (p<0.05 in the distribution of all four case characteristics (e.g., sex, four parental characteristics (e.g., maternal pregestational diabetes, and five neurodevelopmental outcomes (e.g., learning disabilities. Several characteristics (e.g., sex were also significantly different across CHD subtypes. The PCGC cohort is one of the largest CHD cohorts available for the study of genetic determinants of risk and outcomes. The majority of cases do not have a genetic diagnosis. This description of the PCGC cohort, including differences across CHD types and subtypes, provides a reference work for investigators who are interested in collaborating with or using publically available resources from the PCGC.

  16. The Congenital Heart Disease Genetic Network Study: Cohort description.

    Science.gov (United States)

    Hoang, Thanh T; Goldmuntz, Elizabeth; Roberts, Amy E; Chung, Wendy K; Kline, Jennie K; Deanfield, John E; Giardini, Alessandro; Aleman, Adolfo; Gelb, Bruce D; Mac Neal, Meghan; Porter, George A; Kim, Richard; Brueckner, Martina; Lifton, Richard P; Edman, Sharon; Woyciechowski, Stacy; Mitchell, Laura E; Agopian, A J

    2018-01-01

    The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. This article describes the PCGC cohort, overall and by major types of CHDs (e.g., conotruncal defects) and subtypes of conotrucal heart defects (e.g., tetralogy of Fallot) and left ventricular outflow tract obstructions (e.g., hypoplastic left heart syndrome). Cases with CHDs were recruited through ten sites, 2010-2014. Information on cases (N = 9,727) and their parents was collected through interviews and medical record abstraction. Four case characteristics, eleven parental characteristics, and thirteen parent-reported neurodevelopment outcomes were summarized using counts and frequencies and compared across CHD types and subtypes. Eleven percent of cases had a genetic diagnosis. Among cases without a genetic diagnosis, the majority had conotruncal heart defects (40%) or left ventricular outflow tract obstruction (21%). Across CHD types, there were significant differences (p<0.05) in the distribution of all four case characteristics (e.g., sex), four parental characteristics (e.g., maternal pregestational diabetes), and five neurodevelopmental outcomes (e.g., learning disabilities). Several characteristics (e.g., sex) were also significantly different across CHD subtypes. The PCGC cohort is one of the largest CHD cohorts available for the study of genetic determinants of risk and outcomes. The majority of cases do not have a genetic diagnosis. This description of the PCGC cohort, including differences across CHD types and subtypes, provides a reference work for investigators who are interested in collaborating with or using publically available resources from the PCGC.

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

    Science.gov (United States)

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

    2010-01-01

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

  18. 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.

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

    Science.gov (United States)

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

    2016-12-01

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

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

    Science.gov (United States)

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

    2018-01-01

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

  1. Arrhythmias in Adults with Congenital Heart Disease: What Are Risk Factors for Specific Arrhythmias?

    Science.gov (United States)

    Loomba, Rohit S; Buelow, Matthew W; Aggarwal, Saurabh; Arora, Rohit R; Kovach, Joshua; Ginde, Salil

    2017-04-01

    An increasing number of patients with congenital heart disease are now surviving into adulthood. This has also led to the emergence of complications from the underlying congenital heart disease, related surgical interventions, and associated combordities. While the prevalence of particular arrhythmias with specific congenital heart disease has been previously described, a detailed analysis of all lesions and a large number of comorbidities has not been previously published. Admissions with congenital heart disease were identified in the National Inpatient Sample. Associated comorbidities were also identified for these patients. Univariate analysis was done to compare those risk factors associated with specific arrhythmias in the setting of congenital heart disease. Next, regression analysis was done to identify what patient characteristics and comorbidities were associated with increased risk of specific arrhythmias. A total of 52,725,227 admissions were included in the analysis. Of these, 109,168 (0.21%) had congenital heart disease. Of those with congenital heart disease, 27,088 (25%) had an arrhythmia at some point. The most common arrhythmia in those with congenital heart disease was atrial fibrillation, which was noted in 86% of those with arrhythmia followed by atrial flutter which was noted in 20% of those with congenital heart disease. The largest burden of arrhythmia was found to be in those with tricuspid atresia with a 51% prevalence of arrhythmia in this group followed by Ebstein anomaly which had an arrhythmia prevalence of 39%. Increasing age, male gender, double outlet right ventricle, atrioventricular septal defect, heart failure, obstructive sleep apnea, transposition of the great arteries, congenitally corrected transposition, and tetralogy of Fallot were frequently noted to be independent risk factors of specific arrhythmias. Approximately, 25% of adult admissions with congenital heart disease are associated with arrhythmia. The burden of

  2. 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.

  3. The current trends of mortality following congenital heart surgery: the Japan Congenital Cardiovascular Surgery Database.

    Science.gov (United States)

    Hoashi, Takaya; Miyata, Hiroaki; Murakami, Arata; Hirata, Yasutaka; Hirose, Keiichi; Matsumura, Goki; Ichikawa, Hajime; Sawa, Yoshiki; Takamoto, Shinichi

    2015-08-01

    Whereas surgical outcomes of congenital heart surgery have improved during the past two decades, there are still measurable postoperative mortalities in this field. This study is aimed at evaluating the current situation of mortality following congenital heart surgery. Data on all registered 28 810 patients in The Japan Congenital Cardiovascular Surgery Database (JCCVSD) between 2008 and 2012 were analysed, except for patients with degenerative cardiomyopathy including dilated, restrictive and hypertrophic cardiomyopathy, and pathologically or histologically malignant cardiac tumours. The number of registered cases increased every year, and reached ∼9000 cases in 2012. The median age at surgery was 0.8 years (range, 0-82). More than half of the patients (54%) who underwent surgery were <1 year old, and 6.0% of all patients were over 18 years old (adults). In this study, all mortalities within 90 days after the operation and mortality at discharge beyond 90 days of hospitalization were defined as '90-day and in-hospital mortality'. The 30-, 90-day and in-hospital mortality rates were 2.3, 3.5 and 4.5%, respectively. The mean and median durations from surgery to death were 61 ± 89 and 28 days (range, 0-717), respectively. Whereas 658 mortalities (51%) occurred within 30 days of surgery, 265 (21%) occurred later than 90 days after surgery. A total of 3630 patients (13%) were hospitalized for more than 90 days after the operation; of those, 3365 patients survived at discharge (93%). Cardiac problems were the most frequent causes of death after the surgery at any point in time, and 7.1 per 1000 patients died at over 30 days after the operation due to solely cardiac. The investigation of JCCVSD revealed that about a half of mortalities occurred later than 30 days; hence 90-day and in-hospital mortality would be a good discriminator that accurately represented the current situation of mortality after congenital heart surgery. Mortalities long after the operation due to

  4. Case complexity scores in congenital heart surgery: a comparative study of the Aristotle Basic Complexity score and the Risk Adjustment in Congenital Heart Surgery (RACHS-1) system.

    Science.gov (United States)

    Al-Radi, Osman O; Harrell, Frank E; Caldarone, Christopher A; McCrindle, Brian W; Jacobs, Jeffrey P; Williams, M Gail; Van Arsdell, Glen S; Williams, William G

    2007-04-01

    The Aristotle Basic Complexity score and the Risk Adjustment in Congenital Heart Surgery system were developed by consensus to compare outcomes of congenital cardiac surgery. We compared the predictive value of the 2 systems. Of all index congenital cardiac operations at our institution from 1982 to 2004 (n = 13,675), we were able to assign an Aristotle Basic Complexity score, a Risk Adjustment in Congenital Heart Surgery score, and both scores to 13,138 (96%), 11,533 (84%), and 11,438 (84%) operations, respectively. Models of in-hospital mortality and length of stay were generated for Aristotle Basic Complexity and Risk Adjustment in Congenital Heart Surgery using an identical data set in which both Aristotle Basic Complexity and Risk Adjustment in Congenital Heart Surgery scores were assigned. The likelihood ratio test for nested models and paired concordance statistics were used. After adjustment for year of operation, the odds ratios for Aristotle Basic Complexity score 3 versus 6, 9 versus 6, 12 versus 6, and 15 versus 6 were 0.29, 2.22, 7.62, and 26.54 (P Aristotle Basic Complexity (likelihood ratio chi2 = 162, P Aristotle Basic Complexity contributed much less predictive value over Risk Adjustment in Congenital Heart Surgery (likelihood ratio chi2 = 13.4, P = .009). Neither system fully adjusted for the child's age. The Risk Adjustment in Congenital Heart Surgery scores were more concordant with length of stay compared with Aristotle Basic Complexity scores (P Aristotle Basic Complexity. The use of Aristotle Basic Complexity or Risk Adjustment in Congenital Heart Surgery as risk stratification and trending tools to monitor outcomes over time and to guide risk-adjusted comparisons may be valuable.

  5. At last, a medical website designed for grown-ups

    Science.gov (United States)

    ... At last, a medical website designed for grown-ups Past Issues / Winter 2007 Table of Contents For ... U.S. Department of Health and Human Services. For up-to-date health information tailor-made just for ...

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

    Directory of Open Access Journals (Sweden)

    Nelson Itiro Miyague

    2003-03-01

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

  7. Magnetic resonance imaging in congenital heart disease in newborns

    International Nuclear Information System (INIS)

    Kastler, B.; Zollner, G.; Wackenheim, A.; Livolsi, A.; Willard, D.; Germain, P.

    1990-01-01

    Until now little attention has been paid to the potential of MR imaging in congenital heart disease of the newborn. ECG-gated MRI was therefore performed at 0.5 tesla in 23 newborns with suspected congenital heart disease. Two newborns were controlled after surgery. All had undergone prior evaluation by two-dimensional Doppler echocardiogrpahy. MR imaging was of a satisfying quality in all but one newborn. The aim of this study was to assess complementary information provided by MRI in comparison to 2-D DE. Pre-operatively MRI missed some abnormalities shown by 2-D DE: one coartaction, one ductus arteriosus and one ulmonary atresia. MRI demonstrated lesions that echocardiography had either failed to visualize or found inconclusive, inlcuding double aortic arch, muscular ventricular septum defect and severe ductus arteriosus. In one of the two patients with a ventricular septum defect, angiography was avoided and in the other patient is merely confirmed the MRI results. Post-operatively, MRI demonstrated information complementary to that obtained from to 2-D DE: (1) clearly visualizing the reinsertion of the coronary arteries in the 'switched' transposition of the great vessels, (2) appreciating the diameter and patency of the palliative shunt in the Blalock-Taussig procedure. (author). 25 refs.; 9 figs.; 1 tab

  8. 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.

  9. Somatic Development in Children with Congenital Heart Defects.

    Science.gov (United States)

    Poryo, Martin; Paes, Laura Antonia; Pickardt, Thomas; Bauer, Ulrike M M; Meyer, Sascha; Wagenpfeil, Stefan; Abdul-Khaliq, Hashim

    2018-01-01

    Somatic development is impaired in children with congenital heart defects (CHDs), and head circumference seems to be a strong predictor of neurodevelopmental prognosis. The aim of this study was to generate up-to-date reference values for the somatic development (head circumference, body weight, and length/height) of children with CHDs. Our study population consisted of all patients included in the PAN study (Prävalenz angeborener Herzfehler bei Neugeborenen in Deutschland), which was conducted prospectively over a 3-year study period by the Competence Network for Congenital Heart Defects. All children with mild, moderate, and severe CHDs born in 2006-2009 in Germany were enrolled. For computing of z-scores, only children with the following characteristics were included: appropriate for gestational age, nonsyndromic disease, term or post-term delivery, and no cardiac surgery. There were 2818 patients included. New z-scores for the described somatic measures of children with mild, moderate, and severe CHDs were computed. Comparisons with the KiGGS study (Gesundheit von Kindern und Jugendlichen in Deutschland) and the Berlin Longitudinal Study revealed significantly lower measurements for all measures-most notably in children with severe CHDs and/or cardiac surgery. In our cohort, no catch-up growth was seen after cardiac surgery. Children with severe CHDs demonstrated the most abnormal pattern in growth, including head circumference before and after cardiac surgery, which is indicative of accompanying brain pathology unrelated to operative injury. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. 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.

  11. [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.

  12. 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.…

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

    NARCIS (Netherlands)

    Meijboom, Folkert; Mulder, Barbara

    2010-01-01

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

  14. Congenital heart defects in europe: prevalence and perinatal mortality, 2000 to 2005

    DEFF Research Database (Denmark)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2011-01-01

    This study determines the prevalence of Congenital Heart Defects (CHD), diagnosed prenatally or in infancy, and fetal and perinatal mortality associated with CHD in Europe.......This study determines the prevalence of Congenital Heart Defects (CHD), diagnosed prenatally or in infancy, and fetal and perinatal mortality associated with CHD in Europe....

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

    NARCIS (Netherlands)

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

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

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

    NARCIS (Netherlands)

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

    2016-01-01

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

  17. Management of newborns with duct-dependent congenital heart disease with prostaglandin E1 – Slovenian guidelines

    Directory of Open Access Journals (Sweden)

    Mojca Grošelj Grenc

    2012-02-01

    Conclusions: It is critical to start with PGE1 infusion as soon as we clinically suspect ductdependent congenital heart disease. With this approach, morbidity and mortality of newborns with congenital heart disease is significantly reduced.

  18. Educational achievement among long-term survivors of congenital heart defects: a Danish population-based follow-up study

    DEFF Research Database (Denmark)

    Olsen, Morten; Hjortdal, Vibeke E.; Mortensen, Laust Hvas

    2011-01-01

    Congenital heart defect patients may experience neurodevelopmental impairment. We investigated their educational attainments from basic schooling to higher education.......Congenital heart defect patients may experience neurodevelopmental impairment. We investigated their educational attainments from basic schooling to higher education....

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

    Science.gov (United States)

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

    2017-07-12

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

  20. [Perspectives in the management of congenital heart defects in adult patients].

    Science.gov (United States)

    Hartyánszky, István; Varga, Sándor; Havasi, Kálmán; Babik, Barna; Katona, Márta; Bogáts, Gábor

    2015-01-18

    Due to improving results in congenital heart surgery, the number of adult patients with congenital heart defect is increasing. The question is: what kind of problems can be managed in this patient-group? The authors review the different problems of management of congenital heart defects in adults based on national and international literature data. Simple defects recognised in adults, postoperative residual problems, changing of small grafts and valves, correction of primary or operated coarctation aortae can be usually managed without problems. A very close follow-up is necessary to establish the correct period for heart transplantation in patients with transposition of great arteries with Senning/Mustard operation, and univentricular heart corrected with "Fontan-circulation" type surgical procedure. The authors conclude that although the number of patients increases, only a few congenital heart diseases may cause problems. It seems important (1) to monitor asymptomatic patient who underwent operation (Fallot-IV, Ross procedure, etc.), (2) follow up regularly patients who underwent Senning/Mustard procedure (magnetic resonance imaging, echocardiography, brain natriuretic peptide measurement), (3) define the proper period of preparation for heart transplantation of patients with a univentricular heart, with special attention to the possibility of multiorgan (lung, liver, etc.) failure. Due to the improvement of foetal diagnosis of congenital heart defects, the number of patients with complex congenital heart defects is decreasing. The standard management of these patients could be primary heart transplantation in infancy.

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

    International Nuclear Information System (INIS)

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

    2015-01-01

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

  2. 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.

  3. Air travel and adults with cyanotic congenital heart disease.

    Science.gov (United States)

    Harinck, E; Hutter, P A; Hoorntje, T M; Simons, M; Benatar, A A; Fischer, J C; de Bruijn, D; Meijboom, E J

    1996-01-15

    Concern has been expressed that a reduction of partial oxygen pressure during flight in commercial aircraft may induce dangerous hypoxemia in patients with cyanotic congenital heart disease. To evaluate the validity of this concern, the transcutaneous SaO2 was measured in 12 adults with this type of heart disease and 27 control subjects during simulated commercial flights of 1.5 and 7 hours in a hypobaric chamber. Ten of those patients and 6 control subjects also were evaluated during two actual flights of approximately 2.5 hours in a DC-10 and an A-310, respectively. During the prolonged simulated and actual flights, the capillary blood pH, gases, and lactic acid were analyzed in the patients and during one of the actual flights also in the control subjects. During the simulated flights the SaO2 was at all times lower in the patients than in the control subjects. However, the maximal mean actual percentage decrease, as compared with sea level values, did not exceed 8.8% in either patients or control subjects. During the actual flights, this maximal decrease in the patients was 6%. In-flight reduction of the capillary PO2 was considerable in the control subjects but not in the patients. It is our hypothesis that the lack of a significant decrease of the PO2 in the patients might possibly be due to a high concentration of 2.3 diphosphoglycerate in the red cells. The flights had no influence on the capillary blood pH, PCO2, bicarbonate, or lactic acid levels in either patients or control subjects. Atmospheric pressure changes during commercial air travel do not appear to be detrimental to patients with cyanotic congenital heart disease.

  4. 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

  5. [Cardiac rehabilitation for children and adults with congenital heart disease].

    Science.gov (United States)

    Amedro, Pascal; Gavotto, Arthur; Bredy, Charlène; Guillaumont, Sophie

    2017-05-01

    Advances in heart surgery over the past 30 years have significantly improved the prognosis of congenital heart diseases (CHD). Therefore, the epidemiology of CHD has changed dramatically with a shift of mortality from pediatrics to adulthood and an increased prevalence of complex CHD. Today, caregivers and patients focus their interests to new perspectives: improving the quality of life, practicing sports, improving psychosocial care. Cardiac rehabilitation is completely integrated in these new therapeutic strategies. The starting point is the cardiopulmonary exercise test (CPET), with the measurement of oxygen uptake, or "VO2". CPET is now recommended in the follow-up of the adults with CHD. Maximum oxygen uptake correlates to the quality of life of children and adults with CHD. The principles of the rehabilitation in patients with heart failure may usually be applied to CHD patients. Some studies in complex CHD showed improvement of VO2 and quality of life after rehabilitation, without any adverse events. However few physicians have the experience in rehabilitation among CHD patients, especially children. Randomized trials on cardiac rehabilitation in adult and pediatric CHD patients are essential to increase the level of evidence and lead to specific guidelines in this population. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  6. 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.

  7. R1 version, self-concept in Taiwanese adolescents with congenital heart disease.

    Science.gov (United States)

    Chen, Chi-Wen; Chen, Yueh-Chih; Beckstead, Jason W; Kennel, Susan; Evans, Mary E

    2011-04-01

      The objectives of this study were to evaluate and compare differences in self-concept between male and female adolescents with congenital heart disease, and to compare the self-concepts of these adolescents to that of the general adolescent population using normative data.   A total of 300 adolescents, 143 male and 157 female, from two medical centers in Taiwan completed the Tennessee Self-Concept Scales and the scores of male and female subjects were compared. The scores of adolescents with congenital heart disease were also compared with normative data of healthy Taiwanese adolescents.   Girls with congenital heart disease showed significantly lower mean scores in Physical Self, Social Self, Personal Self, Academic Self and Overall Self domains on the Tennessee Self-Concept Scales when compared to boys with congenital heart disease. When compared to the average value of normative data, adolescent boys with congenital heart disease had significantly higher mean T-scores on Physical Self, Family Self, Social Self, Personal Self, Academic Self and Overall Self, and adolescent girls had significantly higher mean T-scores in Moral-ethical Self, Social Self, Personal Self, Academic Self and Overall Self domains. There were weak negative correlations between severity of congenital heart disease and Physical Self T-scores, and between the number of heart operations and Academic T-scores.   Self-concept in adolescents with congenital heart disease is similar to or even higher than that of their normal counterparts. More holistic views of adolescents with congenital heart disease, including their self-concept, appear warranted, especially for adolescent girls with congenital heart disease. © 2011 The Authors.Pediatrics International © 2011 Japan Pediatric Society.

  8. Magnetic resonance imaging in patients with congenital heart disease.

    Science.gov (United States)

    Higgins, C B; Byrd, B F; Farmer, D W; Osaki, L; Silverman, N H; Cheitlin, M D

    1984-11-01

    Magnetic resonance imaging (MRI) was conducted with use of the spin-echo technique (0.35 Tesla) in 22 patients with a variety of congenital and cardiovascular anomalies and in 16 normal volunteers. Electrocardiographic (ECG) synchronization of the data acquisition produced transverse, parasagittal, and coronal tomograms that were used to define size and relationship of the great vessels and internal cardiac structures. MRI findings were corroborated by angiography and sector-scan echocardiography. In most patients the diagnosis had been established before the MRI study. MRI detected all of 11 abnormalities at the level of the great vessels, all of six atrial septal abnormalities, and 10 of 11 ventricular septal defects. Images of poor quality resulting from patient motion were obtained in the one instance in which a small ventricular septal defect was not imaged. Of two patients with Ebstein's anomaly, the displacement of the tricuspid leaflets was shown in one patient but was not evident in another. Complex anomalies such as double-outlet right ventricle, uncorrected L-transposition, single atrioventricular valve, single ventricle, and common ventricle were clearly shown by MRI. Initial experience with MRI has indicated the effectiveness of this technique for defining great vessel and internal cardiac anatomy in patients with congenital heart disease. This is accomplished without the use of contrast media and is thus a completely noninvasive technique for cardiovascular diagnosis.

  9. 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.

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

    International Nuclear Information System (INIS)

    Kreitner, Karl-Friedrich; Sorantin, Erich

    2015-01-01

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

  11. 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.

  12. Pacing and Defibrillators in Complex Congenital Heart Disease

    Science.gov (United States)

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

    2016-01-01

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

  13. 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.

  14. Postoperative management in patients with complex congenital heart disease.

    Science.gov (United States)

    Tweddell, James S; Hoffman, George M

    2002-01-01

    Life-threatening problems occur in the neonate and infant after cardiac surgery because of the interplay of diminished cardiac output (CO), increased metabolic demand, inflammatory responses to cardiopulmonary bypass, and maladaptive responses to stress. Therefore, the postoperative management of patients with complex congenital heart defects is directed at optimization of oxygen delivery to maintain end-organ function and promote wound healing. Traditionally, assessment of circulation in the postoperative congenital heart patient has depended on indirect assessment of CO using parameters such as blood pressure, pulses, capillary refill, and urine output. Because of the limitations of indirect and observer-dependent assessment of CO, we rely on objective measures of tissue oxygen levels for the complex postoperative patient. We have found that continuous monitoring of the mixed venous saturation (SvO2) allows for identification of acute changes in systemic oxygen delivery and frequently precedes other indicators of decreased CO. The postoperative patient can be expected to have a period of decreasing CO, and the need for intervention should be anticipated because critical low output syndrome will develop in a subset of patients. Strategies for postoperative care are developed based on the diagnosis and procedure, but optimizing SvO2 is a consistent goal. A uniform approach to airway maintenance, vascular access, and drug infusions, all universal concerns during the perioperative period, minimizes the potential for these predictable and necessary interventions to result in morbidity or mortality. Management of the postoperative single ventricle patient targets stabilization of the systemic vascular resistance through the use of vasodilators to improve systemic perfusion and simplify ventilator management. Management of any individual patient should be driven by objective analysis of available data and must include efforts to re-evaluate the treatment plan as well as

  15. Sudden unexpected death in children with congenital heart defects.

    Science.gov (United States)

    Jortveit, Jarle; Eskedal, Leif; Hirth, Asle; Fomina, Tatiana; Døhlen, Gaute; Hagemo, Petter; Tell, Grethe S; Birkeland, Sigurd; Øyen, Nina; Holmstrøm, Henrik

    2016-02-14

    Congenital heart defects (CHDs) are the most common birth defects and are an important cause of death in children. The fear of sudden unexpected death has led to restrictions of physical activity and competitive sports. The aim of the present study was to investigate the rate of sudden unexpected deaths unrelated to surgery in children 2-18 years old with CHDs and, secondarily, to determine whether these deaths were related to cardiac disease, comorbidity, or physical activity. To identify children with CHDs and to determine the number of deaths, data concerning all 9 43 871 live births in Norway in 1994-2009 were retrieved from the Medical Birth Registry of Norway, the Cardiovascular Disease in Norway project, the Oslo University Hospital's Clinical Registry for Congenital Heart Defects and the Norwegian Cause of Death Registry. Survivors were followed through 2012, and information for the deceased children was retrieved from medical records at Norwegian hospitals. Among 11 272 children with CHDs, we identified 19 (0.2%) children 2-18 years old who experienced sudden unexpected deaths unrelated to cardiac surgery. A cardiac cause of death was identified in seven of these cases. None of the children died during physical activity, whereas two children survived cardiac arrest during sports. Sudden unexpected death was infrequent among children with CHDs who survived 2 years of age. Comorbidity was common among the children who died. This study indicates that sudden unexpected death in children with CHDs rarely occurs during physical activity. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2015. For permissions please email: journals.permissions@oup.com.

  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. © The Author 2017. Published by Oxford University Press on behalf of the Society of Occupational Medicine. All rights reserved. For Permissions, please email: journals.permissions@oup.com

  17. 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.

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

    Science.gov (United States)

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

    2014-09-01

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

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

    Science.gov (United States)

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

    2009-01-01

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

  20. Heart Transplantation in Congenital Heart Disease: In Whom to Consider and When?

    Science.gov (United States)

    Attenhofer Jost, Christine H.; Schmidt, Dörthe; Huebler, Michael; Balmer, Christian; Noll, Georg; Caduff, Rosmarie; Greutmann, Matthias

    2013-01-01

    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. PMID:23577237

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

    Science.gov (United States)

    Zhu, Hong

    2016-01-01

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

  2. [Prevalence of congenitial kidney and urinary tract anomalies in neonates and infants with congenital heart disease].

    Science.gov (United States)

    Czarniak, Piotr; Kosiak, Wojciech; Chojnicki, Maciej; Król, Ewa; Zurowska, Aleksandra

    2006-01-01

    Congenital heart diseases are the most frequent anomalies and one of the most important reasons of mortality and morbidity in neonates and infants. Coincidence of additional malformation aggravates prognosis. The frequency of incidence of other anomalies accompanying congenital hart diseases is defined as 11 to 45%. Estimation of the frequency of a coincidence of congenital kidney anomalies on the basis of the ultrasound examination (US) in children with congenital heart disease in first year of life. Abdominal US were done in 350 neonates and infants hospitalized in Department of Pediatric Cardiology Medical University of Gdansk in the first twenty-four hours after diagnosis of congenital heart disease. Examinations were performed in 187 male (53%) and 163 female (47%) in average age 54.9 days (range from 1 to 349 days). In examined population congenital kidney anomalies were found in 4.9% of children from which 18% represent hipoplasia, and another 18% dysplasia. 15.3% of examined patients were diagnosed by dilatation of collecting system, whereof 3% mild, 7% moderate, and 5% severe degree. 1. The frequency of incidence of kidney anomalies and collecting system dilatation in the examined population of neonates and infants with congenital heart disease accounts for 20.2%. 2. Abdominal ultrasound screening with carefully examination of urinary tract should be performed in neonates and infants with congenital heart disease.

  3. Role of virtual reality in congenital heart disease.

    Science.gov (United States)

    Ong, Chin Siang; Krishnan, Aravind; Huang, Chen Yu; Spevak, Philip; Vricella, Luca; Hibino, Narutoshi; Garcia, Juan R; Gaur, Lasya

    2018-02-05

    New platforms for patient imaging present opportunities for improved surgical planning in complex congenital heart disease (CHD). Virtual reality (VR) allows for interactive manipulation of high-resolution representations of patient-specific imaging data, as a supplement to traditional 2D visualizations and 3D printed heart models. We present the novel use of VR for the presurgical planning of cardiac surgery in two infants with complex CHD to demonstrate interactive real-time views of complex intra and extracardiac anatomy. The use of VR for cardiac presurgical planning is feasible using existing imaging data. The software was evaluated by both pediatric cardiac surgeons and pediatric cardiologists, and felt to be reliable and operated with a very short learning curve. VR with controller-based interactive capability allows for interactive viewing of 3D models with complex intra and extracardiac anatomy. This serves as a useful complement to traditional preoperative planning methods in terms of its potential for group based collaborative discussion, user defined illustrative views, cost-effectiveness, and facility of use. © 2018 Wiley Periodicals, Inc.

  4. 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

  5. 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.

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

    Science.gov (United States)

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

    2017-09-01

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

  7. 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

  8. Left-sided congenital heart lesions in mosaic Turner syndrome.

    Science.gov (United States)

    Bouayed Abdelmoula, Nouha; Abdelmoula, Balkiss; Smaoui, Walid; Trabelsi, Imen; Louati, Rim; Aloulou, Samir; Aloulou, Wafa; Abid, Fatma; Kammoun, Senda; Trigui, Khaled; Bedoui, Olfa; Denguir, Hichem; Mallek, Souad; Ben Aziza, Mustapha; Dammak, Jamila; Kaabi, Oldez; Abdellaoui, Nawel; Turki, Fatma; Kaabi, Asma; Kamoun, Wafa; Jabeur, Jihen; Ltaif, Wided; Chaker, Kays; Fourati, Haytham; M'rabet, Samir; Ben Ameur, Hedi; Gouia, Naourez; Mhiri, Mohamed Nabil; Rebai, Tarek

    2018-04-01

    In the era of the diseasomes and interactome networks, linking genetics with phenotypic traits in Turner syndrome should be studied thoroughly. As a part of this stratagem, mosaicism of both X and Y chromosome which is a common finding in TS and an evaluation of congenital heart diseases in the different situations of mosaic TS types, can be helpful in the identification of disturbed sex chromosomes, genes and signaling pathway actors. Here we report the case of a mosaic TS associated to four left-sided CHD, including BAV, COA, aortic aneurysms and dissections at an early age. The mosaicism included two cell lines, well-defined at the cytogenetic and molecular levels: a cell line which is monosomic for Xp and Xq genes (45,X) and another which is trisomic for pseudoautosomal genes that are present on the X and Y chromosomes and escape X inactivation: 45,X[8]/46,X,idic(Y)(pter→q11.2::q11.2→pter)[42]. This case generates two hypotheses about the contribution of genes linked to the sex chromosomes and the signaling pathways involving these genes, in left-sided heart diseases. The first hypothesis suggests the interaction between X chromosome and autosomal genes or loci of aortic development, possibly dose-dependent, and which could be in the framework of TGF-β-SMAD signaling pathways. The second implies that left-sided congenital heart lesions involve sex chromosomes loci. The reduced dosage of X chromosome gene(s), escaping X inactivation during development, contributes to this type of CHD. Regarding our case, these X chromosome genes may have homologues at the Y chromosome, but the process of inactivation of the centromeres of the isodicentric Y spreads to the concerned Y chromosome genes. Therefore, this case emerges as an invitation to consider the mosaics of Turner syndrome and to study their phenotypes in correlation with their genotypes to discover the underlying developmental and genetic mechanisms, especially the ones related to sex chromosomes.

  9. Can folic acid protect against congenital heart defects in Down syndrome?

    NARCIS (Netherlands)

    Meijer, Willemijn M.; Werler, Martha M.; Louik, Carol; Hernandez-Diaz, Sonia; de Jong-van den Berg, Lolkje T. W.; Mitchell, Allen A.

    2006-01-01

    BACKGROUND: Several studies have suggested a protective effect of folic acid (FA) on congenital heart anomalies. Down syndrome (DS) infants are known to have a high frequency of heart anomalies. Not all children with DS suffer from heart anomalies, which raises the question whether maternal factors

  10. Grandparents and siblings of children with congenital heart disease.

    Science.gov (United States)

    Ravindran, Vinitha Paul; Rempel, Gwen R

    2011-01-01

    This paper is a report of a study of the process of grandparent involvement with siblings of preschool children with hypoplastic left heart syndrome. An increasing number of grandparents are involved in parental or near-parental roles with their grandchildren. Most research concerns grandparent involvement due to parental issues (e.g. teenage pregnancy, mental illness, addiction). Some research addresses grandparent involvement when their grandchild is ill. Grandparents''double concern' for both their adult children and their ill grandchildren is reported in the literature. In this paper, we describe a third concern for grandparents: the sibling(s) of their sick grandchild. Individual interviews were conducted in 2007 with 15 grandparents of six preschool children with complex congenital heart disease. Open and selective coding, categorization, and theoretical memoing were used to analyse the data. 'Stepping in as needed' and 'safeguarding relationships' were identified as two core categories related to grandparenting siblings of children with heart disease. Grandparents stepped into a parent role with toddler and preschool-aged siblings by attending to their daily care routines, recreational and play times, and relational needs while parents were occupied with their sick and hospitalized infants. Grandparents' concerted efforts to sustain parent-child and child-sibling relationships were also striking. Our findings extend the concept of 'double concern' to 'triple concern', and direct a research and practice focus towards the unexplored roles and needs of grandparents and siblings in families whose young children have life-threatening illnesses. © 2010 The Authors. Journal of Advanced Nursing © 2010 Blackwell Publishing Ltd.

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

    Science.gov (United States)

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

    2011-01-01

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

  12. 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.

  13. Personality traits, quality of life, and perceived health in adolescents with congenital heart disease

    NARCIS (Netherlands)

    Rassart, J.; Luyckx, K.; Goossens, E.; Apers, S.; Klimstra, T.A.; Moons, P.

    2013-01-01

    This study investigated how the Big Five personality traits were related to quality of life and perceived health in adolescents with congenital heart disease (CHD). Adolescents with CHD were selected from the database of paediatric and congenital cardiology of the University Hospitals Leuven. A

  14. Factors associated with coronary artery disease and stroke in adults with congenital heart disease

    NARCIS (Netherlands)

    Bokma, Jouke P.; Zegstroo, Ineke; Kuijpers, Joey M.; Konings, Thelma C.; van Kimmenade, Roland R. J.; van Melle, Joost P.; Kiès, Philippine; Mulder, Barbara J. M.; Bouma, Berto J.

    2017-01-01

    To determine factors associated with coronary artery disease (CAD) and ischaemic stroke in ageing adult congenital heart disease (ACHD) patients. We performed a multicentre case-control study, using data from the national CONgenital CORvitia (CONCOR) registry to identify ACHD patients within five

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

    Directory of Open Access Journals (Sweden)

    Edward Araujo Júnior

    2014-09-01

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

  16. 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.

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

    DEFF Research Database (Denmark)

    Jensen, A S; Johansson, Pär 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...

  18. Adults with congenital heart disease: patients' knowledge and concerns about inheritance

    NARCIS (Netherlands)

    van Engelen, Klaartje; Baars, Marieke J. H.; van Rongen, Lotte T.; van der Velde, Enno T.; Mulder, Barbara J. M.; Smets, Ellen M. A.

    2011-01-01

    With recent advances in medical and surgical management, most patients with congenital heart disease (CHD) survive to reproductive age. Current guidelines recommend counseling about inheritance and transmission of CHD to offspring. We evaluated whether adult CHD patients recalled having received

  19. 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,

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

    Science.gov (United States)

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

    2015-01-01

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

  1. 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

  2. Congenital heart disease in children: coronary MR angiography during systole and diastole with dual cardiac phase whole-heart imaging.

    NARCIS (Netherlands)

    Uribe, S.; Hussain, T.; Valverde, I.; Tejos, C.; Irarrazaval, P.; Fava, M.; Beerbaum, P.B.J.; Botnar, R.M.; Razavi, R.; Schaeffter, T.; Greil, G.F.

    2011-01-01

    PURPOSE: To assess the optimal timing for coronary magnetic resonance (MR) angiography in children with congenital heart disease by using dual cardiac phase whole-heart MR imaging. MATERIALS AND METHODS: The local institutional review board approved this study, and informed consent was obtained from

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

    Science.gov (United States)

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

    2018-03-10

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

  4. Guidelines and protocols for cardiovascular magnetic resonance in children and adults with congenital heart disease: SCMR expert consensus group on congenital heart disease

    Science.gov (United States)

    2013-01-01

    Cardiovascular magnetic resonance (CMR) has taken on an increasingly important role in the diagnostic evaluation and pre-procedural planning for patients with congenital heart disease. This article provides guidelines for the performance of CMR in children and adults with congenital heart disease. The first portion addresses preparation for the examination and safety issues, the second describes the primary techniques used in an examination, and the third provides disease-specific protocols. Variations in practice are highlighted and expert consensus recommendations are provided. Indications and appropriate use criteria for CMR examination are not specifically addressed. PMID:23763839

  5. Improving the quality of transition and transfer of care in young adults with congenital heart disease.

    Science.gov (United States)

    Everitt, Ian K; Gerardin, Jennifer F; Rodriguez, Fred H; Book, Wendy M

    2017-05-01

    The transition and transfer from pediatric to adult care is becoming increasingly important as improvements in the diagnosis and management of congenital heart disease allow patients to live longer. Transition is a complex and continuous process that requires careful planning. Inadequate transition has adverse effects on patients, their families and healthcare delivery systems. Currently, significant gaps exist in patient care as adolescents transfer to adult care and there are little data to drive the informed management of transition and transfer of care in adolescent congenital heart disease patients. Appropriate congenital heart disease care has been shown to decrease mortality in the adult population. This paper reviews the transition and transfer of care processes and outlines current congenital heart disease specific guidelines in the United States and compares these recommendations to Canadian and European guidelines. It then reviews perceived and real barriers to successful transition and identifies predictors of success during transfer to adult congenital heart disease care. Lastly, it explores how disease-specific markers of outcomes and quality indicators are being utilized to guide transition and transfer of care in other chronic childhood illnesses, and identifies existing knowledge gaps and structural impediments to improving the management of transition and transfer among congenital heart disease patients. © 2017 Wiley Periodicals, Inc.

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

    Science.gov (United States)

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

    2018-02-01

    Currently, chromosomal microarray analysis is considered the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of chromosomal microarray analysis for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. In this prospective study, 602 prenatal cases of congenital heart disease were investigated using single nucleotide polymorphism array over a 5-year period. Overall, pathogenic chromosomal abnormalities were identified in 125 (20.8%) of 602 prenatal cases of congenital heart disease, with 52.0% of them being numerical chromosomal abnormalities. The detection rates of likely pathogenic copy number variations and variants of uncertain significance were 1.3% and 6.0%, respectively. The detection rate of pathogenic chromosomal abnormalities in congenital heart disease plus additional structural anomalies (48.9% vs 14.3%, P microarray analysis is a reliable and high-resolution technology and should be used as the first-tier test for prenatal diagnosis of congenital heart disease in clinical practice. Copyright © 2017 Elsevier Inc. All rights reserved.

  7. 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.

  8. Pediatric Inpatient Hospital Resource Use for Congenital Heart Defects

    Science.gov (United States)

    Simeone, Regina M.; Oster, Matthew E.; Cassell, Cynthia H.; Armour, Brian S.; Gray, Darryl T.; Honein, Margaret A.

    2015-01-01

    Background Congenital heart defects (CHDs) occur in approximately 8 per 1000 live births. Improvements in detection and treatment have increased survival. Few national estimates of the healthcare costs for infants, children and adolescents with CHDs are available. Methods We estimated hospital costs for hospitalizations using pediatric (0–20 years) hospital discharge data from the 2009 Healthcare Cost and Utilization Project Kids’ Inpatient Database (KID) for hospitalizations with CHD diagnoses. Estimates were up-weighted to be nationally representative. Mean costs were compared by demographic factors and presence of critical CHDs (CCHDs). Results Up-weighting of the KID generated an estimated 4,461,615 pediatric hospitalizations nationwide, excluding normal newborn births. The 163,980 (3.7%) pediatric hospitalizations with CHDs accounted for approximately $5.6 billion in hospital costs, representing 15.1% of costs for all pediatric hospitalizations in 2009. Approximately 17% of CHD hospitalizations had a CCHD, but it varied by age: approximately 14% of hospitalizations of infants, 30% of hospitalizations of patients aged 1 to 10 years, and 25% of hospitalizations of patients aged 11 to 20 years. Mean costs of CHD hospitalizations were higher in infancy ($36,601) than at older ages and were higher for hospitalizations with a CCHD diagnosis ($52,899). Hospitalizations with CCHDs accounted for 26.7% of all costs for CHD hospitalizations, with hypoplastic left heart syndrome, coarctation of the aorta, and tetralogy of Fallot having the highest total costs. Conclusion Hospitalizations for children with CHDs have disproportionately high hospital costs compared with other pediatric hospitalizations, and the 17% of hospitalizations with CCHD diagnoses accounted for 27% of CHD hospital costs. PMID:24975483

  9. 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

    2017-10-11

    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.

  10. 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 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 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.

  11. 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.

  12. Congenital heart disease at Laos Children's Hospital: Two year experience.

    Science.gov (United States)

    Hwang, In-Chang; Sisavanh, Malouny; Billamay, Somxay; Phangmanixay, Sommanikhone; Oudavong, Bounleua; Kang, Jeehoon; Kwon, Bo Sang; Kim, Gi Beom; Bae, Eun Jung; Noh, Chung Il; Choi, Jung Yun

    2017-03-01

    Management of congenital heart disease (CHD) in developing countries is challenging because of limited access to health-care facilities and socioeconomic limitations. The aim of this study was to describe the recent experience with CHD at Children's Hospital, Vientiane, Laos, the only pediatric referral hospital in the country. From July 2013 to November 2015, 1009 echocardiograms were carried out in 797 individuals who visited Children's Hospital, in whom CHD was identified in 213. Demographic characteristics, echocardiography and age at first CHD diagnosis on echocardiogram were compared by residential area. Among the 213 patients, the most frequent anomalies, in descending order, were ventricular septal defect, atrial septal defect, patent ductus arteriosus, and tetralogy of Fallot. Moderate or severe CHD requiring surgery or intervention was detected in 137 patients; median age at initial diagnosis was 6.0 months (IQR, 1.5-29.8). Among those with moderate or severe CHD, 89 patients were from rural areas and 48 from the capital area. The proportion of patients from rural areas older than 1 and 3 years at diagnosis was 46.1% and 32.6%, respectively. In contrast, patients from the capital area were diagnosed at a significantly earlier age: 16.7% at age >1 year and 6.2% at age >3 years (both P Laos, especially in rural areas. Better education and training of local medical staff, and greater access to medical advice are required to improve CHD care in Laos. © 2016 Japan Pediatric Society.

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

    Science.gov (United States)

    Chaix, Marie A; Andelfinger, Gregor; Khairy, Paul

    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 follow-up. 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. PMID:26981213

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

    Science.gov (United States)

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

    2016-01-01

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

  15. Congenital heart disease affects cerebral size but not brain growth.

    Science.gov (United States)

    Ortinau, Cynthia; Inder, Terrie; Lambeth, Jennifer; Wallendorf, Michael; Finucane, Kirsten; Beca, John

    2012-10-01

    Infants with congenital heart disease (CHD) have delayed brain maturation and alterations in brain volume. Brain metrics is a simple measurement technique that can be used to evaluate brain growth. This study used brain metrics to test the hypothesis that alterations in brain size persist at 3 months of age and that infants with CHD have slower rates of brain growth than control infants. Fifty-seven infants with CHD underwent serial brain magnetic resonance imaging (MRI). To evaluate brain growth across the first 3 months of life, brain metrics were undertaken using 19 tissue and fluid spaces shown on MRIs performed before surgery and again at 3 months of age. Before surgery, infants with CHD have smaller frontal, parietal, cerebellar, and brain stem measures (p < 0.001). At 3 months of age, alterations persisted in all measures except the cerebellum. There was no difference between control and CHD infants in brain growth. However, the cerebellum trended toward greater growth in infants with CHD. Somatic growth was the primary factor that related to brain growth. Presence of focal white matter lesions before and after surgery did not relate to alterations in brain size or growth. Although infants with CHD have persistent alterations in brain size at 3 months of age, rates of brain growth are similar to that of healthy term infants. Somatic growth was the primary predictor of brain growth, emphasizing the importance of optimal weight gain in this population.

  16. Screening for Critical Congenital Heart Disease in Newborns.

    Science.gov (United States)

    Bruno, Christie J; Havranek, Thomas

    2015-08-01

    CCHD affects more than 25% of neonates born with congenital heart disease. Patients with CCHD require timely intervention in the form of surgery or cardiac catheterization to survive. These interventions may improve survival and outcomes for these patients. There is strong evidence that performing newborn pulse oximetry screening after the first 24 hours of life may help to detect more than 1200 neonates in the United States each year with CCHD. Pulse oximetry screening for CCHD has been demonstrated to be reasonable to implement and seems to be cost-effective. There is evidence that asymptomatic patients with CCHD can be diagnosed before clinical presentation or cardiovascular collapse with this screening. Pulse oximeter screening has been endorsed by several national organizations as a valuable newborn screening tool. Implementation of pulse oximetry screening programs in a standardized manner with strong communication among all involved parties will likely improve outcomes as well. As we move forward, we as clinicians should work to have a centralized system of reporting positive CCHD results, prompt patient evaluation, and good follow-up for the families of those neonates with positive screening results. Achieving these objectives will likely help us to achieve the goal of improving outcomes of the most critical neonates with CCHD.

  17. Remission of congenital complete heart block without anti-Ro/La antibodies: A case report

    Directory of Open Access Journals (Sweden)

    Souvik Mitra

    2013-01-01

    Full Text Available Anti-Ro/La negative congenital heart block (CHB is uncommon. We report one such case of CHB, with no associated structural heart disease or maternal autoantibodies. The heart block reverted to sinus rhythm spontaneously at two weeks of age, and the patient remains in sinus rhythm at a one year followup. Whether patients with antibody negative complete heart block have a different clinical course is conjectural.

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

    OpenAIRE

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

    2016-01-01

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

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

    Science.gov (United States)

    Eslami, Bahareh

    2017-05-01

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

  20. 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.

  1. The usefulness of brain natriuretic peptide in simple congenital heart disease-a systematic review

    NARCIS (Netherlands)

    J.A. Eindhoven (Jannet); A.E. van den Bosch (Annemien); H. Boersma (Eric); J.W. Roos-Hesselink (Jolien)

    2013-01-01

    textabstractBrain natriuretic peptide and N-terminal pro-brain natriuretic peptide are two well-established markers for cardiac failure in acquired heart disease. Nevertheless, the clinical utility of these markers in patients with congenital heart disease remains unclear. Therefore, the aim of this

  2. 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

  3. Mobile health in adults with congenital heart disease: current use and future needs

    NARCIS (Netherlands)

    Schuuring, M. J.; Backx, A. P.; Zwart, R.; Veelenturf, A. H.; Robbers-Visser, D.; Groenink, M.; Abu-Hanna, A.; Bruining, N.; Schijven, M. P.; Mulder, B. J.; Bouma, B. J.

    2016-01-01

    Objective 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 hence timely

  4. Delayed cortical gray matter development in neonates with severe congenital heart disease

    NARCIS (Netherlands)

    Claessens, Nathalie H P; Moeskops, Pim; Buchmann, Andreas; Latal, Beatrice; Knirsch, Walter; Scheer, Ianina; Išgum, Ivana; De Vries, Linda S.; Benders, Manon J N L; Von Rhein, Michael

    2016-01-01

    Background: This study aimed to assess cortical gray matter growth and maturation in neonates with congenital heart disease (CHD). Methods: Thirty-one (near) term neonates with severe CHD (8 univentricular heart malformation (UVH), 21 d-transposition of great arteries (d-TGA) and 2 aortic

  5. Peri-operative care in adults with congenital heart disease : Room for improvement in after care

    NARCIS (Netherlands)

    Schoormans, D.; Smets, E.M.A.; Zwart, R.; Sprangers, M.A.G.; Veelenturg, T.H.; de Mol, B.A.; Hazekamp, M.G.; Koolbergen, D.R.; Sojak, V.; Bouma, B.J.; Groenink, M.; Boekholdt, M.S.; Backx, A.P.; Mulder, B.J.

    2013-01-01

    Patient satisfaction with care has received little attention within the field of congenital heart disease. Our objective was to examine patient satisfaction with the care received when undergoing open-heart surgery in order to identify the best and worst aspects of peri-operative care. Moreover, we

  6. Peri-operative care in adults with congenital heart disease: room for improvement in after care

    NARCIS (Netherlands)

    Schoormans, Dounya; Smets, Ellen M. A.; Zwart, Ronald; Sprangers, Mirjam A. G.; Veelenturg, Tonny H. M.; de Mol, Bas A. J. M.; Hazekamp, Mark G.; Koolbergen, Dave R.; Sojak, Vladimir; Bouma, Berto J.; Groenink, Maarten; Boekholdt, Matthijs S. M.; Backx, Ad P. C. M.; Mulder, Barbara J. M.

    2013-01-01

    Patient satisfaction with care has received little attention within the field of congenital heart disease. Our objective was to examine patient satisfaction with the care received when undergoing open-heart surgery in order to identify the best and worst aspects of peri-operative care. Moreover, we

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

    Science.gov (United States)

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

    2018-02-13

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

  8. 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.

  9. Prenatal Diagnosis of Congenital Heart Disease and Birth Outcomes

    Science.gov (United States)

    Levey, Allison; Levasseur, Stephanie M.; Glickstein, Julie S.; Kleinman, Charles S.; Simpson, Lynn L.; Williams, Ismee A.

    2013-01-01

    This study was undertaken to examine the impact that prenatal diagnosis of congenital heart disease (CHD) has on birth and early neonatal outcomes. The prevalence of prenatally diagnosed CHD has risen over the past decade, but the effect that prenatal diagnosis of CHD has on peripartum decisions remains unclear. No consensus exists on the effect of prenatal diagnosis on neonatal outcomes. Between January 2004 and July 2009, a retrospective chart review of all neonates with CHD admitted to our institution’s neonatal intensive care unit was conducted. Obstetric and postnatal variables were collected. Among the 993 subjects, 678 (68.3 %) had a prenatal diagnosis. A prenatal diagnosis increased the odds of a scheduled delivery [odds ratio (OR) 4.1, 95 % confidence interval (CI) 3.0–5.6] and induction of labor (OR 11.5, 95 % CI 6.6–20.1). Prenatal diagnosis was not significantly associated with cesarean delivery when control was used for maternal age, multiple gestation, and presence of extracardiac anomaly. Mean gestational age had no impact on prenatal diagnosis, but prenatal diagnosis was associated with increased odds of delivery before a gestational age of 39 weeks (OR 1.5, 95 % CI 1.1–1.9) and decreased odds of preoperative intubation (OR 0.5, 95 % CI 0.3–0.6). Prenatal diagnosis did not have an impact on preoperative or predischarge mortality. Prenatal diagnosis was associated with increased odds of a scheduled delivery, birth before a gestational age of 39 weeks, and a decreased need for invasive respiratory support. Prenatal diagnosis of CHD was not associated with preoperative or predischarge mortality. PMID:23052660

  10. 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.

  11. Congenital Heart Defects and Receipt of Special Education Services.

    Science.gov (United States)

    Riehle-Colarusso, Tiffany; Autry, Andrew; Razzaghi, Hilda; Boyle, Coleen A; Mahle, William T; Van Naarden Braun, Kim; Correa, Adolfo

    2015-09-01

    We investigated the prevalence of receipt of special education services among children with congenital heart defects (CHDs) compared with children without birth defects. Children born from 1982 to 2004 in metropolitan Atlanta with CHDs (n = 3744) were identified from a population-based birth defect surveillance program; children without birth defects (n = 860 715) were identified from birth certificates. Cohorts were linked to special education files for the 1992-2012 school years to identify special education services. Children with noncardiac defects or genetic syndromes were excluded; children with CHDs were classified by presence or absence of critical CHDs (ie, CHDs requiring intervention by age one year). We evaluated the prevalence of receipt of special education services and prevalence rate ratios using children without birth defects as a reference. Compared with children without birth defects, children with CHDs were 50% more likely to receive special education services overall (adjusted prevalence rate ratio [aPRR] = 1.5; 95% confidence interval [CI]: 1.4-1.7). Specifically, they had higher prevalence of several special education categories including: intellectual disability (aPRR = 3.8; 95% CI: 2.8-5.1), sensory impairment (aPRR = 3.0; 95% CI: 1.8-5.0), other health impairment (aPRR = 2.8; 95% CI: 2.2-3.5), significant developmental delay (aPRR = 1.9; 95% CI: 1.3-2.8), and specific learning disability (aPRR = 1.4; 95% CI: 1.1-1.7). For most special education services, the excess prevalence did not vary by presence of critical CHDs. Children with CHDs received special education services more often than children without birth defects. These findings highlight the need for special education services and the importance of developmental screening for all children with CHDs. Copyright © 2015 by the American Academy of Pediatrics.

  12. 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

  13. Functional basis of sinus bradycardia in congenital heart block.

    Science.gov (United States)

    Hu, Keli; Qu, Yongxia; Yue, Yuankun; Boutjdir, Mohamed

    2004-03-05

    Congenital heart block (CHB) is a conduction abnormality characterized by complete atrioventricular (AV) block. CHB affects fetuses and/or newborn of mothers with autoantibodies reactive with ribonucleoproteins 48-kDa SSB/La, 52-kDa SSA/Ro, and 60-kDa SSA/Ro. We recently established animal models of CHB and reported, for the first time, significant sinus bradycardia preceding AV block. This unexpected observation implies that the spectrum of conduction abnormalities extends beyond the AV node to also affect the SA node. To test this hypothesis, we investigated the functional basis of this sinus bradycardia by characterizing the effects of antibodies from mothers with CHB children (positive IgG) on ionic currents that are known to significantly contribute to spontaneous pacing in SA node cells. We recorded L- (I(Ca.L)) and T- (I(Ca.T)) type Ca2+, delayed rectifier K+ (I(K)), hyperpolarization-activated (I(f)) currents, and action potentials (APs) from young rabbit SA node cells. We demonstrated that positive IgG significantly inhibited both I(Ca.T) and I(Ca.L) and induced sinus bradycardia but did not affect I(f) and I(K). Normal IgG from mothers with healthy children did not affect all the currents studied and APs. These results establish that IgG from mothers with CHB children causes substantial inhibition of I(Ca.T) and I(Ca.L), two important pacemaker currents in rabbit SA node cells and point to both I(Ca.T) and I(Ca.L) as major players in the ionic mechanism by which maternal antibodies induce sinus bradycardia in CHB. These novel findings have important clinical significance and suggest that sinus bradycardia may be a potential marker in the detection and prevention of CHB. The full text of this article is available online at http://circres.ahajournals.org

  14. Social independence of adult congenital heart disease patients in Japan.

    Science.gov (United States)

    Ochiai, Ryota; Ikeda, Yukitaka; Kato, Hitoshi; Shiraishi, Isao

    2017-06-01

    As treatment outcomes for congenital heart disease (CHD) have improved, the social independence of adult CHD patients has become a key goal. The aims of this study were therefore to (i) determine the relationship between social independence and psychological profile, and (ii) identify patient anxieties, difficulties, and demands related to life in society. A total of 143 patients aged ≥15 years with physical disability certificates were selected using a questionnaire distributed by a patients' association. Each participant was asked about employment status, income, and receipt of disability pension as a social independence index, and about financial and psychological distress as a psychological status index. Furthermore, each participant was asked to freely describe his or her difficulties, anxieties, and needs pertaining to life in society. The subjects were 15-73 years old. Seventy-one (50%) were female, and 94 (66%) had a grade 1 physical disability certificate. Fifty-nine subjects (41%) were employed, 37 (26%) were unemployed, and 45 (31%) were students. Of those employed, 34 subjects (58%) reported annual individual income ≤2 million yen. Frequent hospital visits, low total household income, low individual annual income, work dissatisfaction, and receipt of a disability pension were associated with poorer psychological profile. In an open description section, subjects expressed desires for better pension systems, support for medical fees, and employment support. Because financial issues can adversely affect the psychological profiles of adult CHD patients, enhancement of social welfare and employment support may improve their social independence. © 2017 Japan Pediatric Society.

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

    Science.gov (United States)

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

    2016-12-01

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

  16. 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.

  17. Characteristics and outcomes of heart failure-related hospitalization in adults with congenital heart disease.

    Science.gov (United States)

    Moussa, Nidhal Ben; Karsenty, Clement; Pontnau, Florence; Malekzadeh-Milani, Sophie; Boudjemline, Younes; Legendre, Antoine; Bonnet, Damien; Iserin, Laurence; Ladouceur, Magalie

    2017-05-01

    Heart failure (HF) is the main cause of death in adult congenital heart disease (ACHD). We aimed to characterize HF-related hospitalization of patients with ACHD, and to determine HF risk factors and prognosis in this population. We prospectively included 471 patients with ACHD admitted to our unit over 24 months. Clinical and biological data and HF management were recorded. Major cardiovascular events were recorded for ACHD with HF. HF was the main reason for hospitalization in 13% of cases (76/583 hospitalizations). Patients with HF were significantly older (median age 44±14 years vs. 37±15 years; Pcongenital heart disease (P=0.04). In the multivariable analysis, pulmonary arterial hypertension (odds ratio [OR] 6.2, 95% confidence interval [CI] 3.5-10.7), history of HF (OR 9.8, 95% CI 5.7-16.8) and history of atrial arrhythmia (OR 3.6, 95% CI 2.2-5.9) were significant risk factors for HF-related admissions (Pheart transplantation during the median follow-up of 18 months (95% CI 14-20 months). The risk of cardiovascular events was 19-fold higher after HF-related hospitalization. HF is emerging as a leading cause of morbidity and mortality in the ACHD population. Earlier diagnosis and more active management are required to improve outcomes of HF in ACHD. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  18. Tropomyosin 1: Multiple roles in the developing heart and in the formation of congenital heart defects.

    Science.gov (United States)

    England, Jennifer; Granados-Riveron, Javier; Polo-Parada, Luis; Kuriakose, Diji; Moore, Christopher; Brook, J David; Rutland, Catrin S; Setchfield, Kerry; Gell, Christopher; Ghosh, Tushar K; Bu'Lock, Frances; Thornborough, Christopher; Ehler, Elisabeth; Loughna, Siobhan

    2017-05-01

    Tropomyosin 1 (TPM1) is an essential sarcomeric component, stabilising the thin filament and facilitating actin's interaction with myosin. A number of sarcomeric proteins, such as alpha myosin heavy chain, play crucial roles in cardiac development. Mutations in these genes have been linked to congenital heart defects (CHDs), occurring in approximately 1 in 145 live births. To date, TPM1 has not been associated with isolated CHDs. Analysis of 380 CHD cases revealed three novel mutations in the TPM1 gene; IVS1+2T>C, I130V, S229F and a polyadenylation signal site variant GATAAA/AATAAA. Analysis of IVS1+2T>C revealed aberrant pre-mRNA splicing. In addition, abnormal structural properties were found in hearts transfected with TPM1 carrying I130V and S229F mutations. Phenotypic analysis of TPM1 morpholino-treated embryos revealed roles for TPM1 in cardiac looping, atrial septation and ventricular trabeculae formation and increased apoptosis was seen within the heart. In addition, sarcomere assembly was affected and altered action potentials were exhibited. This study demonstrated that sarcomeric TPM1 plays vital roles in cardiogenesis and is a suitable candidate gene for screening individuals with isolated CHDs. Copyright © 2017 The Authors. Published by Elsevier Ltd.. All rights reserved.

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

    International Nuclear Information System (INIS)

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

    2003-01-01

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

  20. 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.

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

    Directory of Open Access Journals (Sweden)

    Masoud Motasaddi Zarandy

    2016-03-01

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

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

    International Nuclear Information System (INIS)

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

    2014-01-01

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

  3. 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.

  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. A systematic review of prenatal screening for congenital heart disease by fetal electrocardiography.

    Science.gov (United States)

    Verdurmen, Kim M J; Eijsvoogel, Noortje B; Lempersz, Carlijn; Vullings, Rik; Schroer, Christian; van Laar, Judith O E H; Oei, S Guid

    2016-11-01

    Congenital heart disease (CHD) is the most common severe congenital anomaly worldwide. Diagnosis early in pregnancy is important, but the detection rate by two-dimensional ultrasonography is only 65%-81%. To evaluate existing data on CHD and noninvasive abdominal fetal electrocardiography (ECG). A systematic review was performed through a search of the Cochrane Library, PubMed, and Embase for studies published up to April 2016 using the terms "congenital heart disease," "fetal electrocardiogram," and other similar keywords. Primary articles that described changes in fetal ECG among fetuses with CHD published in English were included. Outcomes of interest were changes in fetal ECG parameters observed for fetuses with congenital heart disease. Findings were reported descriptively. Only five studies described changes observed in the fetal electrocardiogram for fetuses with CHD, including heart rate, heart rate variability, and PR, QRS, and QT intervals. Fetal ECG reflects the intimate relationship between the cardiac nerve conduction system and the structural morphology of the heart. It seems particularly helpful in detecting the electrophysiological effects of cardiac anatomic defects (e.g. hypotrophy, hypertrophy, and conduction interruption). Fetal ECG might be a promising clinical tool to complement ultrasonography in the screening program for CHD. Copyright © 2016 International Federation of Gynecology and Obstetrics. Published by Elsevier Ireland Ltd. All rights reserved.

  6. Myocardial Factor Revisited: The Importance of Myocardial Fibrosis in Adults with Congenital Heart Disease

    Science.gov (United States)

    Broberg, Craig S.; Burchill, Luke J.

    2015-01-01

    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. PMID:25897907

  7. 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.

  8. Ultrasonographic views for the screening of congenital heart defects in the first level of care

    International Nuclear Information System (INIS)

    Garcia Guevara, Carlos; Arenciabia Faife, Jakeline; Ley Vega, Lisset

    2009-01-01

    Congenital heart diseases are the main cause of infant mortality for congenital malformations in our country and they are the defects that more usually escape diagnosis in ultrasonographic screening, especially if we consider that associated risk factors call for a fetal echocardiogram are not identified in most pregnant women with fetuses affected with a heart disease. With this paper, we intend to bring within reach of both the specialists dedicated to this activity in primary care and the Masters in Genetic Counseling a review article about the principal aspects to be evaluated in each of the three echocardiography views that are used in Cuba as part of screening these defects, as well as the main signs of suspicion of congenital heart diseases that give reason for having a pregnant woman referred to the immediately higher level of care

  9. Deletion of a single-copy DAAM1 gene in congenital heart defect: a case report

    Directory of Open Access Journals (Sweden)

    Bao Bihui

    2012-08-01

    Full Text Available Abstract Background With an increasing incidence of congenital heart defects (CHDs in recent years, genotype-phenotype correlation and array-based methods have contributed to the genome-wide analysis and understanding of genetic variations in the CHD population. Here, we report a copy number deletion of chromosomal 14q23.1 in a female fetus with complex congenital heart defects. This is the first description of DAAM1 gene deletion associated with congenital heart anomalies. Case Presentation Compared with the control population, one CHD fetus showed a unique copy number deletion of 14q23.1, a region that harbored DAAM1 and KIAA0666 genes. Conclusions Results suggest that the copy number deletion on chromosome 14q23.1 may be critical for cardiogenesis. However, the exact relationship and mechanism of how DAAM1 and KIAA0666 deletion contributes to the onset of CHD is yet to be determined.

  10. Magnetic resonance imaging of congenital heart disease at 0.3 T

    International Nuclear Information System (INIS)

    Malmgren, N.

    1995-11-01

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

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

  12. THE CONGENITAL MALFORMATIONS OF THE HEART FROM THE RURAL ENVIRONMENT OF BACĂU COUNTY

    Directory of Open Access Journals (Sweden)

    Aura Manuela David

    2006-08-01

    Full Text Available : During 1998 – 2003 it has been realized a study on a lot of 27,623 subjects represented by children from Bacu county. There were found 128 cases of congenital malformations of the heart, from which 82 cases are coming from the rural environment. The cases of congenital malformations of the heart are found more at boys (45 than at girls (37. The children found with congenital malformations of the heart are of different ages as following: 0-1 year – 55 cases, 1-3 years – 13 cases, 3-5 years – 3 cases, 5-7 years – 3 cases, 7-10 years – 3 cases and over 10 years – 6 cases. From the cases found in the rural environment, 18 deceases have been registered (14 boys and 4 girls who were under 1 year old. The most frequent congenital malformations of the heart found and confirmed are defects of auricular and ventricular septum, the transposition of the great blood vessels, the auricular and ventricular hypoplasia, coarctation of aorta, the congenital aortic insufficiency, the tetralogy of Fallot, hypoplasic aortic stenosis, the persistence of Botall orifice and the heart’s position right part of the body. A number of 16 children have benefited of surgical treatment of reparation in special clinics from Iai, Bucureti and Târgu Mure.

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

    Science.gov (United States)

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

    2017-05-01

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

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

    International Nuclear Information System (INIS)

    Ding Zhongru; Qin Yongwen

    2008-01-01

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

  15. 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.

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

    NARCIS (Netherlands)

    E.H.M. van Rijen (Susan)

    2003-01-01

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

  17. Pattern of congenital heart disease in Southern Yemeni children referred for echocardiography.

    Science.gov (United States)

    Saleh, Hussein K

    2009-06-01

    To study the distribution of age, gender, and the relative frequency of congenital heart defects at the time of the diagnosis in Southern Yemeni children. This retrospective study focused on echocardiographic findings of 393 symptomatic children affected by congenital heart disease. It was conducted in the Echocardiography Department of a referral hospital for Aden city and surrounding governorates, Yemen, from January 2001 to December 2005. Out of 987 referred children, congenital heart defects were detected in 393 (39.8%); mean age was 3.45+/-4 years; of them, 48% males and 52% females. They were 85% non-cyanotic and 15% cyanotic. Patients comprised neonates, 5 (1.3%); infants under one year, 156 (39.7%), and children more than one year, 232 (59%). Most cyanotic patients (66%) presented during their first year of life, but only 8.5% were neonates. Most non-cyanotic (64%) presented after their first year mean age 3.9 years, none of them were neonates. The most frequent defects were: ventricular septal defect (26.5%), pulmonary stenosis (17.6%), patent ductus arteriosus (17.3%), and atrial septal defect (15.8%). Tetralogy of Fallot (8.9%) and transposition of great vessels (3.1%) were the most frequent cyanotic defects. The pattern of congenital heart diseases in Southern Yemen, is characterized by simple, potentially correctable heart defects, under-representation of cyanotic, and absence of critical defects that provokes high mortality during infancy.

  18. [Organizational and medical aspects of transition of juveniles with congenital heart defects to adult cardiology care].

    Science.gov (United States)

    Oechslin, E; Hoffmann, A

    2001-02-01

    A growing, heterogeneous group of children with congenital heart disease is surviving into adulthood due to advances in medicine. These patients including those with simple and complex congenital heart disease and operated on during childhood are facing long-term complications. Superspecialist care and expertise are required during their life to deal with their unique problems the most common being ventricular failure, arrhythmias, valve and conduit longevity. Teenagers and adolescents disappear from both medical and parental care because of the lack of transition programs. Transition of care from pediatric to adult cardiologists must be organized in each country and must reflect regional history, regional politics and realities. Transition of care requires goodwill from parents, adolescents, pediatric and adult cardiologists. Transition clinics being held jointly by pediatric and adult cardiologists between the age of 16 and 18 years are essential to encourage the adolescents to take charge of their own life and health issues. Adequate information about their heart defect, their operations and their residual lesions may help them understand the implications for the future and improve their compliance. A transition program must include counseling on education, career, endocarditis prophylaxis, insurance and lifestyle issues such as sexuality and reproduction (including anticonception, pregnancy), cardiovascular risk factors and sports activities. Medical reports including operative reports and heart catheterization reports must be transferred to the adult cardiologists. In Switzerland, care of adults with congenital heart disease is based on three levels: 1) primary caregivers including general practiioners, internists and community cardiologists; 2) cardiologists with special commitment and expertise to patients with congenital heart disease who organize regional outpatient clinics; 3) supraregional referral centers with cardiologists trained in pediatric and

  19. Genotypic and phenotypic predictors of complete heart block and recovery of conduction after surgical repair of congenital heart disease.

    Science.gov (United States)

    Murray, Laura E; Smith, Andrew H; Flack, English C; Crum, Kim; Owen, Jill; Kannankeril, Prince J

    2017-03-01

    Complete heart block (CHB) is a major complication that occurs after congenital heart surgery. We hypothesized that genetic and clinical factors are associated with the development of postoperative CHB and recovery of atrioventricular (AV) conduction. The purpose of this study was to identify predictors of CHB and recovery after congenital heart surgery. Patients undergoing congenital heart surgery at our institution from September 2007 through June 2015 were prospectively enrolled in a parent study of postoperative arrhythmias. Patients with onset of CHB within 48 hours postoperatively were included in the study. Daily rhythm assessment was performed until demonstration of 1:1 conduction or pacemaker implantation. Of 1199 subjects enrolled, 56 (4.7%) developed postoperative CHB. In multivariate analysis, preoperative digoxin exposure (odds ratio [OR] 2.4, 95% confidence interval [CI] 1.3-4.4), aortic cross-clamp time (OR 1.08, 95% CI 1.04-1.11), ventricular septal defect closure (OR 2.2, 95% CI 1.2-4.1), and a common polymorphism in the gene encoding connexin-40 (GJA5 rs10465885 TT genotype; OR 2.1, 95% CI 1.2-3.8) were independently associated with postoperative CHB. Junctional acceleration (JA) (OR 4.0, 95% CI 1.1-15.1) and intermittent conduction noted during complete AV block (OR 9.1, 95% CI 1.0-80) were independently associated with 1:1 AV conduction recovery. Use of a multivariate model including both JA and intermittent conduction demonstrated good discrimination with a positive predictive value of 86% (95% CI 67%-96%) in predicting 1:1 conduction recovery. Preoperative factors, including a missense polymorphism in GJA5, are independently associated with increased risk for CHB. JA and intermittent conduction may prove useful in predicting recovery of AV conduction among patients with CHB after congenital heart surgery. Copyright © 2016 Heart Rhythm Society. Published by Elsevier Inc. All rights reserved.

  20. The concept of double inlet-double outlet right ventricle: a distinct congenital heart disease

    OpenAIRE

    Spadotto, V; Frescura, C; Ho, SY; Thiene, G

    2016-01-01

    The aim of this study was to estimate the incidence and to analyze the anatomy of double inlet-double outlet right ventricle complex and its associated cardiac anomalies in our autopsy series. Among the 1640 hearts with congenital heart disease of our Anatomical Collection, we reviewed the specimens with double inlet-double outlet right ventricle, according to the sequential-segmental analysis, identifying associated cardiac anomalies and examining lung histology to assess the presence of pul...

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

    Directory of Open Access Journals (Sweden)

    M.P. Limarenko

    2014-08-01

    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.

  2. The Adolescent and Adult with congenital heart disease: When is the Magnetic Resonance Useful?

    International Nuclear Information System (INIS)

    Delgado, Jorge Andres; Abad, Pedro; Llano, Juan Fernando; Pulgarin, Luis German

    2008-01-01

    Cardiac magnetic resonance imaging (CMR) plays an important and growing role in the morphologic and functional assessment of the adolescent and adult patient with congenital heart disease and their post surgical sequelae. CMR allows a comprehensive noninvasive evaluation of the heart and chest without the limited acoustic window and field of view of trans thoracic echocardiography. This paper reviews the CMR technique and its clinical indications, followed by several representative teaching cases.

  3. Down syndrome: Prevalence and distribution of congenital heart disease in Brazil

    Directory of Open Access Journals (Sweden)

    Beatriz Elizabeth Bagatin Veleda Bermudez

    Full Text Available ABSTRACT CONTEXT AND OBJECTIVE: Down syndrome is the most common genetic disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of congenital heart disease. The objective of this study was to determine the prevalence and profile of congenital heart disease among patients attended at a Down syndrome outpatient clinic in southern Brazil between 2005 and 2013. DESIGN AND SETTING : Cross-sectional study conducted in a referral center. METHODS : Data were retrospectively gathered from the medical files of 1,207 patients with Down syndrome, among whom 604 (50.0% had been diagnosed with congenital heart disease. These data were subjected to descriptive analysis using the Statistica software. RESULTS : Among the 604 patients with congenital heart disease, 338 (55.8% were male and 269 (44.5% were female. The most common heart diseases were atrial septal defect in 254 patients (42.1%; total atrioventricular septal defect in 91 (15.1%; atrial septal defect and ventricular septal defect in 88 (14.6%; ventricular septal defect in 77 (12.7%; patent ductus arteriosus in 40 (6.6%; patent foramen ovale in 34 (5.6% patients; tetralogy of Fallot in 12 (2%; and other diseases in 8 (1.3%. Pulmonary hypertension was present in 57 (9.4%. Out of the total, 150 patients (24.8% underwent cardiac surgery. CONCLUSION : The high prevalence of congenital heart disease among the patients at the Down syndrome outpatient clinic (50% was similar to findings from other studies and justifies investigation during the neonatal period, so as to decrease mortality and morbidity.

  4. 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

  5. Hospital experiences of young adults with congenital heart disease: divergence in expectations and dissonance in care.

    Science.gov (United States)

    Kools, Susan; Tong, Elizabeth M; Hughes, Rene; Jayne, Rae; Scheibly, Kimberly; Laughlin, Judith; Gilliss, Catherine L

    2002-03-01

    Despite increasing survival for adults with congenital heart disease, little is known about hospitalization for young adult patients with this disease and for their families. Because of the complexity of the disease and its management during the life span, young adults are often hospitalized on both pediatric and adult units during a stay in the hospital. To explore the experience of hospitalization of young adults with congenital heart disease, the experience of their families, and the views of the nurses who cared for these patients and to generate substantive theory on interactions between patients, patients' families, and nurses. Semistructured interviews and naturalistic observations were conducted with young adults with congenital heart disease (mean age, 28.6 years), their family members, and nurses who cared for the patients during hospitalization (N=34). Dimensional analysis was used to analyze interviews and field notes from observations. A grounded theory was derived, explaining how the hospital context and relationships between patients, patients' families, and nurses affect patients' hospital experiences. Expectations differed among the groups, leading to dissonance in care, as exemplified by role confusion and power struggles over control of care. This dissonance resulted in interpersonal conflict, distrust, anxiety, and dissatisfaction with the care and caring experiences. Changes in hospital units, a better understanding of the healthcare needs of young adults with congenital heart disease, and acknowledgment of the expertise of patients and patients' families are needed to improve nursing care for these patients and their families.

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

    NARCIS (Netherlands)

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

    2014-01-01

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

  7. MTRR gene variants may predispose to the risk of Congenital Heart ...

    African Journals Online (AJOL)

    Ambreen Asim

    b Department of Pediatrics, PGIMER, Chandigarh 160012, India. Received 13 January 2016; accepted 15 February 2016. Available online 4 May 2016. KEYWORDS. Down syndrome;. Congenital heart defects or disease;. MTRR. Abstract Background: Down syndrome (DS), also called as trisomy 21, is one of the most ...

  8. Prenatal exposure to serotonin reuptake inhibitors and congenital heart anomalies : An exploratory pharmacogenetics study

    NARCIS (Netherlands)

    Daud, Aizati N A; Bergman, Jorieke E H; Kerstjens-Frederikse, Wilhelmina S; van der Vlies, Pieter; Hak, Eelko; Berger, Rolf M F; Groen, Henk; Wilffert, Bob

    2017-01-01

    Aim: To explore the role of pharmacogenetics in determining the risk of congenital heart anomalies (CHA) with prenatal use of serotonin reuptake inhibitors.  Methods: We included 33 case-mother dyads and 2 mother-only (child deceased) cases of CHA in a case-only study. Ten genes important in

  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. Efficacy of antiarrhythmic drugs in adults with congenital heart disease and supraventricular tachycardias

    NARCIS (Netherlands)

    Koyak, Z.; Kroon, B.; Groot, J.R. de; Wagenaar, L.J.; Dijk, A.P.J. van; Mulder, B.A.; Gelder, I.C.; Post, M.C.; Mulder, B.J.; Bouma, B.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

  11. 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 steno...

  12. Care of Preschoolers with Congenital Heart Disease by Kindergarten and Nursery Teachers in Japan.

    Science.gov (United States)

    Tabata, Hisae

    2017-09-01

    The purpose of this study was to elucidate the involvement of kindergarten and nursery school teachers with young children with congenital heart disease. The study was designed as a qualitative descriptive study. Interviews of kindergarten and nursery school teachers with experience in the care and education of young children with congenital heart disease were conducted, during which they described their experience. Verbatim transcripts of the interviews were prepared, and the content was categorized. The study participants were 11 kindergarten and nursery school teachers. Extracted from the content of the interviews of the study participants were 282 codes, 33 subcategories, 6 categories, and 2 major categories. In their responses, the teachers indicated that they had been "Providing care for the children while seeking ways to avoid special treatment in a group setting." In addition, they established a "Framework for school-parent cooperation in order to promptly accommodate the wishes of parents" of these children. The study showed that the kindergarten and nursery school teachers involved other pupils and monitored the condition of children with congenital heart disease to avoid special treatment of the children in the group setting. In addition, the teachers established a framework for cooperation between the school and parents. In the future, these findings will be used to create a nursing support model for the group life of young children with congenital heart disease.

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

    Directory of Open Access Journals (Sweden)

    Paolo Ferrero

    2016-11-01

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

  14. Swarm intelligence applied to the risk evaluation for congenital heart surgery.

    Science.gov (United States)

    Zapata-Impata, Brayan S; Ruiz-Fernandez, Daniel; Monsalve-Torra, Ana

    2015-01-01

    Particle Swarm Optimization is an optimization technique based on the positions of several particles created to find the best solution to a problem. In this work we analyze the accuracy of a modification of this algorithm to classify the levels of risk for a surgery, used as a treatment to correct children malformations that imply congenital heart diseases.

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

    Science.gov (United States)

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

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

    NARCIS (Netherlands)

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

    1998-01-01

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

  17. Right Ventricular Assessment by Real-time Three-dimensional Echocardiography in Congenital Heart Disease

    NARCIS (Netherlands)

    H.B. van der Zwaan (Heleen)

    2011-01-01

    textabstractThe remarkable improvement in survival of patients with congenital heart disease has led to a growing number of adult patients. In particular, patients with more complex disease showed favorable outcomes in the last decades. In addition, some defects (e.g. atrial septal

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

    Science.gov (United States)

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

  19. 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...

  20. 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 ...

  1. 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…

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

    Science.gov (United States)

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

    2017-08-15

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

  3. Non-cardiac Surgery in a Child with Major Congenital Heart Disease ...

    African Journals Online (AJOL)

    Surgery in children with congenital heart disease poses an increased risk of morbidity and mortality. Ideally such children should be managed in specialist cardiac centres. However, it is not unusual in developing countries for the patients to present in non-specialist centres. This was the case with a 5 month old baby who ...

  4. Dietary intake of B-vitamins in mothers born a child with a congenital heart defect

    NARCIS (Netherlands)

    Verkleij-Hagoort, A.C.; Vries, de J.H.M.; Ursem, N.T.C.; Jonge, de R.; Hop, W.C.J.; Steegers-Theunissen, R.P.M.

    2006-01-01

    BACKGROUND: Periconceptional use of multivitamins reduces the risk of a child with a congenital heart defect (CHD). Data on the impact of maternal diet, however, are lacking. AIM OF THE STUDY: We investigated the association between the maternal dietary intake of B-vitamins and having a child with a

  5. Masquerading acidosis after cardiopulmonary bypass: a case of propionic acidemia and congenital heart disease.

    Science.gov (United States)

    Palermo, Robert A; Monge, Michael C; Charrow, Joel; Costello, John M; Epting, Conrad L

    2015-04-01

    We report the case of a child with both propionic acidemia and cyanotic congenital heart disease. The presence of an underlying inborn error of metabolism confounded the management of this patient in the postoperative period, resulting in therapeutic misdirection until the true etiology of hyperlactemia was recognized. © The Author(s) 2014.

  6. Mental health problems in parents of children with congenital heart disease

    NARCIS (Netherlands)

    Kolaitis, G.A.; Meentken, M.G.; Utens, E.M.W.J.

    2017-01-01

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

  7. 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

  8. Right ventricular function declines after cardiac surgery in adult patients with congenital heart disease

    NARCIS (Netherlands)

    Schuuring, Mark J.; Bolmers, Pauline P. M.; Mulder, Barbara J. M.; de Bruin-Bon, Rianne H. A. C. M.; Koolbergen, Dave R.; Hazekamp, Mark G.; Lagrand, Wim K.; de Hert, Stefan G.; de Beaumont, E. M. F. H.; Bouma, Berto J.

    2012-01-01

    Right ventricular function (RVF) is often selectively declined after coronary artery bypass graft surgery. In adult patients with congenital heart disease (CHD) the incidence and persistence of declined RVF after cardiac surgery is unknown. The current study aimed to describe RVF after cardiac

  9. 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, Marcus T. R.; Hillege, Hans L.; Ivy, D. Dunbar; Rosenzweig, Erika B.; Berger, Rolf M. F.

    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

  10. 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

  11. 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.

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

    Science.gov (United States)

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

    2016-01-01

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

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

    NARCIS (Netherlands)

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

    2014-01-01

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

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

    NARCIS (Netherlands)

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

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

  15. The prevalence of adult congenital heart disease, results from a systematic review and evidence based calculation

    NARCIS (Netherlands)

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

    2012-01-01

    Purpose The prevalence of adult patients with congenital heart disease (CHD) has been reported with a high degree of variability. Prevalence estimates have been calculated using birth rate, birth prevalence, and assumed survival and derived from large administrative databases. To report more robust

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

    Science.gov (United States)

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

    2017-11-13

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

  17. Time Course of Atrial Fibrillation in Patients With Congenital Heart Defects

    NARCIS (Netherlands)

    Teuwen, C.P.; Ramdjan, T.T.; Gotte, M.; Brundel, B.J.; Evertz, R.; Vriend, J.W.; Molhoek, S.G.; Dorman, H.G.; Opstal, J.M. van; Konings, T.C.; Voort, P. van der; Delacretaz, E.; Houck, C.; Yaksh, A.; Jansz, L.J.; Witsenburg, M.; Roos-Hesselink, J.W.; Triedman, J.K.; Bogers, A.J.; Groot, N.M. de

    2015-01-01

    BACKGROUND: The incidence of atrial fibrillation (AF) is rising in the aging patients with congenital heart defects (CHD). However, studies reporting on AF in patients with CHD are scarce. The aim of this multicenter study was to examine in a large cohort of patients with a variety of CHD: (1) the

  18. Time Course of Atrial Fibrillation in Patients With Congenital Heart Defects

    NARCIS (Netherlands)

    Teuwen, Christophe P.; Ramdjan, Tanwier T. T. K.; Gotte, Marco; Brundel, Bianca J. J. M.; Evertz, Reinder; Vriend, Joris W. J.; Molhoek, Sander G.; Dorman, Henderikus G. R.; van Opstal, Jurren M.; Konings, Thelma C.; van der Voort, Pepijn; Delacretaz, Etienne; Houck, Charlotte; Yaksh, Ameeta; Jansz, Luca. J.; Witsenburg, Maarten; Roos-Hesselink, Jolien W.; Triedman, John K.; Bogers, Ad J. J. C.; de Groot, Natasja M. S.

    2015-01-01

    Background The incidence of atrial fibrillation (AF) is rising in the aging patients with congenital heart defects (CHD). However, studies reporting on AF in patients with CHD are scarce. The aim of this multicenter study was to examine in a large cohort of patients with a variety of CHD: (1) the

  19. Determinants of clinical right ventricular failure after congenital heart surgery in adults

    NARCIS (Netherlands)

    Schuuring, Mark J.; van Gulik, E. Charlotte; Koolbergen, Dave R.; Hazekamp, Mark G.; Lagrand, Wim K.; Backx, Ad P. C. M.; Mulder, Barbara J. M.; Bouma, Berto J.

    2013-01-01

    Right ventricular (RV) failure after cardiac surgery is a clinical entity with high morbidity and mortality. Patients with congenital heart disease (CHD) often undergo right-sided cardiac surgery. The authors aimed to identify determinants of RV failure after cardiac surgery to differentiate

  20. MTRR gene variants may predispose to the risk of Congenital Heart ...

    African Journals Online (AJOL)

    Background: Down syndrome (DS), also called as trisomy 21, is one of the most leading cause of intellectual disability. DS is associated with a number of phenotypes including Congenital Heart Disease (CHD), Leukemia, Alzheimer's disease, Hirschsprung's disease and others. DS affects about 1 in 700 live births.

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

    NARCIS (Netherlands)

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

    2008-01-01

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

  2. 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

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

    NARCIS (Netherlands)

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

    2010-01-01

    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

  4. 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

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

    Science.gov (United States)

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

    2018-01-01

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

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

    International Nuclear Information System (INIS)

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

    2017-01-01

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

  7. 22q11 microdeletion studies in the heart tissue of an abortus involving a familial form of congenital heart disease.

    Science.gov (United States)

    Patel, Z M; Gawde, H M; Khatkhatay, M I

    2006-01-01

    Microdeletion of chromosome 22 is responsible for DiGeorge syndrome, Velo Cardio Facial syndrome, and conotruncal defects. Here, we report on a case of microdeletion 22q11.2 in the heart tissue of a miscarried fetus in a family whose two children had died due to complex congenital heart disease. Fluorescence in situ hybridization (FISH) analysis in the couple revealed that the mother was mosaic for microdeletion of chromosome 22q11.2 in 10% of her peripheral lymphocytes. Prenatal diagnosis was offered to her in her third pregnancy. On routine ultrasonography at 10 weeks, the overall view of the heart was normal. However, before any further tests could be performed, she miscarried at 16 weeks. FISH studies on the heart tissue of the abortus revealed 22q11.2 microdeletion with two different cell lines. This suggests the importance of performing FISH studies when there is a history of congenital heart disease, even though ultrasonography shows a normal view of the heart.

  8. The role of pulse oximetry in neonatal screening for critical and complex congenital heart defects

    Directory of Open Access Journals (Sweden)

    M. V. Tarayan

    2017-01-01

    Full Text Available Background: Timely diagnosis of complex and critical congenital heart defects in neonates can help to avoid fatal complications of their natural history and to establish correct treatment strategies. Therefore, easily available and inexpensive screening methods for their routine diagnostics are important.Aim: To demonstrate the role of pulse oximetry in the diagnosis of complex and critical congenital heart defects.Materials and methods: Forty six neonates aged from 1 to 27 days with congenital heart defects, diagnosed after birth, were included into the study. Their diagnoses were verified by expert echocardiography performed after positive pulse oximetry test or due to unexplainable oxygen dependency and/or clinical manifestation of severe heart failure. The pulse oximetry test was considered positive with SaO2 < 95% in any extremity and the difference between the right hand and foot of above 3%.Results: The pulse oximetry test was positive in all neonates with transposition of the great arteries (n = 5, hypoplastic left heart syndrome (n = 6, total anomalous pulmonary venous collection (n = 2, common arterial trunk (n = 3, pulmonary artery atresia with ventricular septum defect (n = 1. The pulse oximetry test was non-informative in those with obstructive abnormalities of the left heart, such as aortic valve stenosis and aortic coarctation.Conclusion: The pulse oximetry test can be used for routine screening for complex and critical congenital heart defects in neonates.

  9. 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 congenital 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.

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

    Science.gov (United States)

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

    2018-01-01

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

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

    International Nuclear Information System (INIS)

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

    2007-01-01

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

  12. 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.

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

    Science.gov (United States)

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

    2014-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Jagdish Menghraj Shahani

    2012-01-01

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

  15. 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

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

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    Terzić Rifet

    2013-01-01

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

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

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    Mitsui, Hideaki [Yamagata City Hospital Saiseikan (Japan); Saito, Haruo; Ishibashi, Tadashi; Takahashi, Shoki; Zuguchi, Masayuki; Yamada, Shogo

    2002-01-01

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

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

    Science.gov (United States)

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

    2017-12-27

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

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

    International Nuclear Information System (INIS)

    Hussain, S.; Sabir, M.U.

    2014-01-01

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

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

    Science.gov (United States)

    Duess, Johannes W; Puri, Prem

    2015-08-01

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

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

    International Nuclear Information System (INIS)

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

    2003-01-01

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

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

    International Nuclear Information System (INIS)

    Akhtar, K.; Ahmed, W.

    2008-01-01

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

  3. Pulse oximetry screening: a review of diagnosing critical congenital heart disease in newborns

    Directory of Open Access Journals (Sweden)

    Engel MS

    2016-07-01

    Full Text Available Melissa S Engel,1 Lazaros K Kochilas2 1Division of Neonatology, University of Minnesota, Minneapolis, MN, 2Children’s Healthcare of Atlanta, Emory University, Atlanta, GA, USA Abstract: Congenital heart disease (CHD is one of the most common birth defects, with an incidence of nine out of every 1,000 live births. The mortality of infants with CHD has decreased over the past 3 decades, but significant morbidity and mortality continue to occur if not diagnosed shortly after birth. Pulse oximetry was recommended as a screening tool to detect critical CHD in 2011 by the American Academy of Pediatrics and the American Heart Association. Pulse oximetry is a tool to measure oxygen saturation, and based on the presence of hypoxemia, many cardiac lesions are detected. Due to its ease of application to the patient, providing results in a timely manner and without the need for calibrating the sensor probe, pulse oximetry offers many advantages as a screening tool. However, pulse oximetry has also important limitations of which physicians should be aware to be able to assess the significance of the pulse oximetry measurement for a given patient. This review aims to highlight the benefits and shortcomings of pulse oximetry within the context of screening for critical CHD and suggests future avenues to cover existing gaps in current practices. Keywords: congenital heart disease, critical congenital heart disease, pulse oximetry, newborn, newborn screening

  4. Cardiopulmonary stress testing in children and adults with congenital heart disease.

    Science.gov (United States)

    Miliaresis, Christa; Beker, Susan; Gewitz, Michael

    2014-01-01

    Cardiopulmonary exercise stress testing (CPET) is a vital tool used to assess patients with a history of congenital heart disease. There are several tests in the cardiologist's armamentarium that allow for assessment of cardiac anatomy and function. The majority of these tests are only performed with the body at rest and some even require sedation. Exercise stress testing is unique in allowing assessment of the hemodynamic status of a patient in motion. In addition to providing all the information obtained during an exercise stress test, such as heart rate, rhythm, ST-segment analysis, and blood pressure, the CPET provides critical metabolic information. Parameters such as VO2, oxygen pulse, and VE/VCO2 slope help to detail the patient's physiology in a dynamic state. Decisions can then be better made regarding follow-up plans, acceptable exercise recommendations, and future interventions, if necessary. It allows insight into the patient's exercise capacity and quality of life. Norms for both children and adults with many forms of congenital heart disease are now available allowing appropriate comparisons to be made. This review will discuss in detail the CPET and its application in congenital heart disease.

  5. Salivary sialic acid levels and dental health in children with congenital heart disease.

    Science.gov (United States)

    Hegde, A M; Kavita, Rai; Sushma, K S; Suchetha, Shetty

    2012-01-01

    Congenital cardiac disease is one of the most common developmental anomalies in children. Higher caries prevalence and gingivitis compared to healthy children have been shown in children with congenital heart disease which has a significant implication in the medical care of these patients associated with bacteraemia and endocarditis. Sialic acids being terminal sugar components and marker of chronic inflammatory response are found to be present at higher levels in children with poor oral health status. So the present study aimed to evaluate the oral health status and salivary sialic acid levels among the children with congenital heart disease and normal healthy siblings. A total of 71 children with heart diseases aged 6-10 years attending various heart institutes were examined for oral hygiene status, gingival status and dental caries status by using modified WHO oral assessment form. A case-matched control group of 50 children were also examined. Salivary flow rate, pH and sialic acid levels were measured after saliva collection. The results were subjected to Unpaired t test and Pearson's Correlation Coefficient Test. The salivary pH, salivary flow rate, dental caries status, oral hygiene and the gingival status were significantly compromised with a positive correlation with the sialic acid levels in saliva, leading to increased treatment needs in the study group. Therefore the amount of sialic acid in the saliva can be a useful index of the severity of oral disease.

  6. Oral health of children with congenital heart disease following preventive treatment.

    Science.gov (United States)

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

    2011-01-01

    Congenital heart disease (CHD), abnormalities in the structural development of the heart, occurs in approximately 8:1000 live births. The causative microorganism for infective endocarditis in more than 60% of the patients with positive hemoculture of viridans streptococci (s.mutans, s.mitior) thus making it mandatory for these children to maintain their oral health. The present study assessed the oral health of children with congenital heart disease following preventive treatment. A total of 74 children with congenital heart disease were selected for the study with 30 healthy controls between the ages 5-16. The oral health was assessed by measuring the microbial counts, the OHI-S and the gingival indices. The data thus obtained were subjected to paired and unpaired t-test. Poor oral health was prevalent among these children of the study group as compared to the controls indicating a lack of sound knowledge of the maintenance of oral hygiene. Following preventive treatment the oral health improved considerably.

  7. [Long-term psychosocial functioning in congenital heart disease children and adolescents and in their parents].

    Science.gov (United States)

    Utens, E; Amianto, F

    2015-04-28

    This review describes the main findings of two follow-up studies into long-term psychosocial outcomes of in children and adolescents with congenital heart disease (CHD) and their parents. For both studies, all consecutive patients, who underwent their first open heart surgery or invasive treatment for congenital heart disease (study 1: between 1968-1980, study 2: between 1990-1995) in the Erasmus Medical Center Rotterdam, the Netherlands, who were younger than 15 years of age at the time of surgery, were eligible. The first study was performed between 1989-1991, the second one between 2003-2005. The first study demonstrated that 10-17 year-old CHD children and adolescents, who underwent surgical "correction" for congenital heart disease before 1980, showed significantly higher levels of behavioural/emotional problems compared to normative groups, both according to parents' reports (N=144) and self-reports (N=179). The second, more recent study was executed in 7-17-year-old patients (N=124). Despite improvements in medical treatment over the years, patients from this more recent study still showed higher levels of behavioural/emotional problems and also a poorer health-related quality of life, compared to reference groups. Parents of patients showed favorable outcomes on psychosocial well-being (N=100 mothers, 61 fathers) and coping styles. In both studies, no clear relationships were found between cardiac diagnoses and psychosocial outcomes. Considering the poorer behavioural/emotional functioning and poorer health related quality of life of these children and adolescents with congenital heart disease, we recommend early screening to identify children are at risk.

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

    Science.gov (United States)

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

    2014-01-01

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

  9. 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.

  10. A newborn infant with congenital cerebral arteriovenous malformation, and congestive heart failure: case report

    Directory of Open Access Journals (Sweden)

    Hamed Tabasizadeh

    2017-06-01

    Full Text Available Background: Cerebral arteriovenous malformations are rare congenital anomalies presenting as different symptoms depending on their size and the age of patient. Congestive heart failure is a rare condition in neonatal period and is most common due to structural heart defects, but rarely may be a result of peripheral shunts such as cerebral arteriovenous malformation. Case presentation: A term male newborn infant who was delivered by Caesarean Section in Chamran Hospital, Ferdows, South Khorasan Province, June 2016. The infant was admitted to neonatal care unit due to nonreactive nonstress (NST with normal Apgar score. In first postpartum visit, a systolic heart murmur was detected. Echocardiography showed small atrial septal defect secundum type and patent foramen ovale (PFO. He presented clinical manifestations of heart failure after 72 hours of birth. Antibiotic and treatment of heart failure was started. Following excluding most common etiologies of heart failure such as sepsis, anemia and arrhythmias, for detecting less common conditions such as cerebral vascular aneurism a transfontanelle ultrasonography was performed which showed dilated cerebral venous system. Magnetic resonance imaging (MRI and Magnetic resonance venography (MRV revealed a large congenital cerebral arterio-venous malformation (CAVM, in right cerebral hemisphere. Finally, he was expired 9 days after birth due to severe heart failure before any definitive treatment for closing CAVM could be done.  Conclusion: CAVM are extremely rare vascular anomalies in newborns which may present occasionally as congestive heart failure in neonatal period. So after excluding other most common etiologies of heart failure such as structural heart defects, screening CAVMs should be done. Inspite of early diagnosis, usually they have extremely poor prognosis.

  11. 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.

  12. Altering hemodynamics leads to congenital heart defects (Conference Presentation)

    Science.gov (United States)

    Ford, Stephanie M.; McPheeters, Matthew T.; Wang, Yves T.; Gu, Shi; Doughman, Yong Qiu; Strainic, James P.; Rollins, Andrew M.; Watanabe, Michiko; Jenkins, Michael W.

    2016-03-01

    The role of hemodynamics in early heart development is poorly understood. In order to successfully assess the impact of hemodynamics on development, we need to monitor and perturb blood flow, and quantify the resultant effects on morphology. Here, we have utilized cardiac optical pacing to create regurgitant flow in embryonic hearts and OCT to quantify regurgitation percentage and resultant morphology. Embryonic quail in a shell-less culture were optically paced at 3 Hz (well above the intrinsic rate or 1.33-1.67 Hz) on day 2 of development (3-4 weeks human) for 5 minutes. The pacing fatigued the heart and led to a prolonged period (> 1 hour) of increased regurgitant flow. Embryos were kept alive until day 3 (cardiac looping - 4-5 weeks human) or day 8 (4 chambered heart - 8 weeks human) to quantify resultant morphologic changes with OCT. All paced embryos imaged at day 3 displayed cardiac defects. The extent of regurgitant flow immediately after pacing was correlated with cardiac cushion size 24-hours post pacing (p-value cardio-facial/DiGeorge syndrome models suggesting that hemodynamics plays a role in these syndromes as well. Utilizing OCT and optical pacing to understand hemodynamics in development is an important step towards determining CHD mechanisms and ultimately developing earlier treatments.

  13. Congenital heart surgery: what we do to our patients

    African Journals Online (AJOL)

    knowledge of potential late complications. This article adresses these issues without dwelling on the technicalities of the surgery per se. The common operations we do can be grouped into 5 categories by their longer-term outlook: • temporary palliation for defects that cannot initially be repaired. • operations for heart defects ...

  14. Prevalence of congenital heart defects among 54 Egyptian children ...

    African Journals Online (AJOL)

    Alyaa A. Kotby

    2017-10-19

    Oct 19, 2017 ... Maple syrup urine disease (MSUD) is an autosomal recessive disorder caused by a defect in any of ... Branched chain amino acids; BCKA,. Branched chain keto acids; LC-MS/MS, Liquid chromatography-Tandem mass ... the nervous system in the liver, muscles, and heart [7]. It has been shown that skeletal ...

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

    NARCIS (Netherlands)

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

    2015-01-01

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

  16. Cardiac resynchronisation therapy in paediatric and congenital heart disease: differential effects in various anatomical and functional substrates

    NARCIS (Netherlands)

    Janousek, J.; Gebauer, R. A.; Abdul-Khaliq, H.; Turner, M.; Kornyei, L.; Grollmuss, O.; Rosenthal, E.; Villain, E.; Früh, A.; Paul, T.; Blom, N. A.; Happonen, J.-M.; Bauersfeld, U.; Jacobsen, J. R.; van den Heuvel, F.; Delhaas, T.; Papagiannis, J.; Trigo, C.

    2009-01-01

    BACKGROUND: Cardiac resynchronisation therapy (CRT) is increasingly used in children in a variety of anatomical and pathophysiological conditions, but published data are scarce. OBJECTIVE: To record current practice and results of CRT in paediatric and congenital heart disease. DESIGN: Retrospective

  17. Cardiac resynchronisation therapy in paediatric and congenital heart disease : differential effects in various anatomical and functional substrates

    NARCIS (Netherlands)

    Janousek, J.; Gebauer, R. A.; Abdul-Khaliq, H.; Turner, M.; Kornyei, L.; Grollmuss, O.; Rosenthal, E.; Villain, E.; Frueh, A.; Paul, T.; Blom, N. A.; Happonen, J-M; Bauersfeld, U.; Jacobsen, J. R.; van den Heuvel, F.; Delhaas, T.; Papagiannis, J.; Trigo, C.

    2009-01-01

    Background: Cardiac resynchronisation therapy (CRT) is increasingly used in children in a variety of anatomical and pathophysiological conditions, but published data are scarce. Objective: To record current practice and results of CRT in paediatric and congenital heart disease. Design: Retrospective

  18. UDP-glucose Dehydrogenase Polymorphisms from Patients with Congenital Heart Valve Defects Disrupt Enzyme Stability and Quaternary Assembly

    NARCIS (Netherlands)

    Hyde, Annastasia S.; Farmer, Erin L.; Easley, Katherine E.; van Lammeren, Kristy; Christoffels, Vincent M.; Barycki, Joseph J.; Bakkers, Jeroen; Simpson, Melanie A.

    2012-01-01

    Cardiac valve defects are a common congenital heart malformation and a significant clinical problem. Defining molecular factors in cardiac valve development has facilitated identification of underlying causes of valve malformation. Gene disruption in zebrafish revealed a critical role for

  19. UDP-glucose dehydrogenase polymorphisms from patients with congenital heart valve defects disrupt enzyme stability and quaternary assembly

    NARCIS (Netherlands)

    Hyde, A.S.; Farmer, E.L.; Easley, K.E.; van Lammeren, K.; Christoffels, V.M.; Barycki, J.J.; Bakkers, J.; Simpson, M.A.

    2012-01-01

    Cardiac valve defects are a common congenital heart malformation and a significant clinical problem. Defining molecular factors in cardiac valve development has facilitated identification of underlying causes of valve malformation. Gene disruption in zebrafish revealed a critical role for

  20. Recommendations for participation in competitive and leisure sports in patients with congenital heart disease: a consensus document.

    Science.gov (United States)

    Hirth, Asle; Reybrouck, Tony; Bjarnason-Wehrens, Birna; Lawrenz, Wolfgang; Hoffmann, Andreas

    2006-06-01

    Physical activity is important for patients with congenital heart disease. The aim of this paper is to provide a consensus document for participation in competitive or leisure sport activity in children and adults with congenital heart disease. The recommendations are based on expert consensus meetings, personal experience of the contributing authors and an updated review of the literature regarding exercise performance and risk stratification in patients with congenital heart disease. Physical performance and exercise tolerance is close to normal in patients with simple lesions with successful repair or no need for therapy. Most patients with complex lesions have some degree of residual disease, making them less suitable for participation in competitive sport. Regular exercise at recommended levels can be performed and should be encouraged in all patients with congenital heart disease. Many can attend sports with no restrictions. Special concern should be given to those patients with a significant ventricular dysfunction or recent history or risk of arrhythmia.

  1. Balloon Angioplasty as a Modality to Treat Children with Pulmonary Stenosis Secondary to Complex Congenital Heart Diseases

    Directory of Open Access Journals (Sweden)

    Yan Gu

    2017-01-01

    Conclusions: Balloon angioplasty was proven to be a safe and useful modality in children with complex congenital heart diseases and postoperative pulmonary stenosis, which should be the initial therapeutic modality in selected patients.

  2. Growing up with congenital heart disease: the dilemmas of adolescents and young adults [see comment].

    Science.gov (United States)

    Tong, E M; Sparacino, P S; Messias, D K; Foote, D; Chesla, C A; Gilliss, C L

    1998-07-01

    Advances in diagnosis, medical management and surgical intervention have improved the longevity and quality of life for children with congenital heart disease. Despite this, research studies specifically examining the psychosocial concerns of adolescents and young adults with congenital heart disease are few. To explore the subjective experiences and dilemmas of this population during the transition from adolescence to young adulthood, we interviewed, using a semi-structured protocol, a convenience sample of nine adolescents and young adults. Using analytic procedures inherent in Grounded Theory methodology, seven themes were identified: the dilemma of normality; dilemmas in disclosure; dilemmas in strategies for management of illness; the challenge of social integration versus social isolation; the challenge of dependence versus independence; the challenge of uncertainty; and strategies for coping. An understanding of these experiences by health professionals can be beneficial in helping this clinical population as they grow up and face the challenges of an uncertain, yet promising, future.

  3. Pulmonary arterial hypertension in congenital heart disease: Current perspectives and future challenges

    Directory of Open Access Journals (Sweden)

    George Giannakoulas, MD, PhD

    2016-07-01

    Full Text Available Medical and scientific research in the field of pulmonary arterial hypertension (PAH in adults with congenital heart disease (ACHD has gradually become globalized, inclusive and collaborative over the past few years. The education of physicians, health administrators and patients on congenital heart disease (CHD, specifically in the field of PAH, is of paramount importance. It is also crucial for ACHD patients with PAH to be followed in tertiary centers and to benefit from a multidisciplinary approach. Shared care models dictate a closer collaboration between tertiary expert centers and local non-specialist services, as well as networking between expert physicians in CHD and PAH and geneticists/epidemiologists, with the inclusion of PAH-CHD patients in national and international registries with a detailed genotypic/phenotypic characterization.

  4. The Congenital Heart Surgeons Society Datacenter: unique attributes as a research organization.

    Science.gov (United States)

    Caldarone, Christopher A; Williams, William G

    2010-01-01

    Over the last 25 years, the Congenital Heart Surgeons Society (CHSS) has evolved from an informal club to a mature organization. A central feature of the CHSS has been dedication to evaluating outcomes of congenital heart surgery across a wide array of clinical diagnoses. These research activities have been orchestrated through the CHSS Datacenter, which has developed a unique organizational structure that has strengths and weaknesses in comparison to other research organizational structures (e.g., prospective randomized trials, registries, etc). This review will highlight the unique attributes of the CHSS Datacenter with emphasis on the Datacenter's strengths and weaknesses in comparison to other organizational structures. Copyright (c) 2010 Elsevier Inc. All rights reserved.

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

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  6. Maternal Abortion History and the Risk of Congenital Heart Defects. A Case-Control Study.

    Science.gov (United States)

    Li, Na-Na; Chen, Xin-Lin; Liu, Zhen; Li, Xiao-Hong; Deng, Ying; Zhu, Jun

    2015-01-01

    To explore the association between maternal abortion history and congenital heart defect (CHD) risk in subsequent pregnancies. A multihospital-based case-control study was conducted. The cases included 370 women whose fetuses were diagnosed with CHDs. The controls were 413 women with fetuses without an apparent malformation in the same hospital. All of the participants were investigated by trained interviewers. Univariate analysis was performed, followed by multivariate logistic regression analysis to calculate odds ratio and 95% confidence interval to evaluate the risk of maternal abortion history on CHD risk. There were no statistically significant positive associations between maternal abortion (induced abortion and spontaneous abortion) occurrence and the risk of CHDs. There were no statistically significant positive associations between the number of maternal abortions (induced and spontaneous) and the risk of congenital heart defects. Maternal abortion history may not be associated with fetal CHDs.

  7. 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...

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

    Science.gov (United States)

    2017-10-01

    behaviors to determine whether training affects behaviors of the intervention group at home and in school . The investigators will also identify the...training for a duration of 5 weeks. Cogmed is a set of home -based, child- friendly, computerized activities that targets the active training of EF...most efficiently in the future. -Congenital Heart Disease -Neurodevelopmental Disorders - School -aged Children -Executive Function -Working

  9. [Prenatal exposure to ambient air pollution and congenital heart disease: a Meta-analysis].

    Science.gov (United States)

    Li, S S; Zhang, R; Lan, X; Qu, P F; Dang, S N; Chen, F Y; Yan, H

    2017-08-10

    Objective: To explore the association between exposure to ambient air pollution during pregnancy and congenital heart disease so as to provide evidence for primary prevention of congenital heart disease. Methods: Epidemiologic studies on ambient air pollution and congenital heart diseases were reviewed. Summary risk estimates were calculated at high versus low exposure levels and risk per-unit-increase in continuous pollutant concentration. Meta-analysis was conducted with Stata 12.0 software. Results: A total of 20 articles in English were qualified for inclusion. Results from Meta-analysis showed that CO exposures were related to the increase on the risk of tetralogy of fallot (high versus low exposure level OR =1.22, 95% CI : 1.03-1.44), while the exposures to NO(2) were related to the increase on risk of coarctation of aorta (per 10 mm(3)/m(3) OR =1.01, 95% CI : 1.01-1.20). Exposures to O(3) were related to the increase on risk of atrial septal defect (per 10 mm(3)/m(3) OR =1.14, 95% CI : 1.03-1.26), and PM(10) exposures were related to the increase on risk of atrial septal defect (per 10 μg/m(3) OR =1.10, 95% CI : 1.03-1.19). In addition, there were inverse associations between CO and atrial septal defect and between PM(10) and ventricular septal defect. Conclusion: Exposures to CO, NO(2), O(3), PM(10) during pregnancy seemed to be associated with congenital heart diseases.

  10. Brain Volumetrics, Regional Cortical Thickness and Radiographic Findings in Adults with Cyanotic Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Rachael Cordina

    2014-01-01

    Conclusions: We present the first comprehensive analysis of brain structure in adults with chronic neurocyanosis due to congenital heart disease. We demonstrate clear evidence for marked macro- and microvascular injury. Cyanotic patients show global evidence for reduced brain volume as well as specific foci of cortical thickness reduction. The GM volume loss correlated with hsCRP, BNP and ADMA suggesting that inflammation, neurohormonal activation and endothelial dysfunction may have important roles in its pathogenesis.

  11. Developing and Evaluating Virtual Cardiotomy for Preoperative Planning in Congenital Heart Disease

    DEFF Research Database (Denmark)

    Sørensen, Thomas Sangild; Beerbaum, Philipp; Mosegaard, Jesper

    2009-01-01

    Careful preoperative planning is of outmost importance -- in particular when considering complex corrective surgery on congenitally malformed hearts. As an aid to such decisionsmaking we describe a system for virtual reconstruction of patient-specific morphology from 3D-capable imaging modalities...... implemtation of the various components of the system, namely 3D imaging, segmentation and reconstruction, visualization, and simulation of tissue elasticity. Finally we summarize the main findings from a resent evaluation study on 42 infants and children....

  12. Exercise in children with common congenital heart lesions: balancing benefits with risks.

    Science.gov (United States)

    Halliday, Melanie; Selvadurai, Hiran; Sherwood, Megan; Fitzgerald, Dominic A

    2013-10-01

    Children with corrected common congenital heart lesions are often withheld from regular exercise by their parents. While 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 emphasised. © 2013 The Authors. Journal of Paediatrics and Child Health © 2013 Paediatrics and Child Health Division (Royal Australasian College of Physicians).

  13. An unusual type of congenital heart disease associated with the Holt-Oram-Syndrome

    International Nuclear Information System (INIS)

    Ruzic, B.; Bosnar, B.; Beleznay, O.

    1981-01-01

    Case report of a very rare case of Holt-Oram-Syndrome (in a seven months old baby) associated with tricuspid atresia (itself a rare condition of isolated congenital heart desease) and anomalous return of pulmonary vein into the right atrium. According to the classification based on anatomy, our case corresponds to type Ia. The diagnosis was confirmed clinically, electrocardiographically, radiologically and angiographically. (orig.) [de

  14. The Use Of Blalock-Taussig Shunt In Cyanotic Congenital Heart Diseases

    Directory of Open Access Journals (Sweden)

    Walla Luay AL_Falluji

    2017-12-01

    Full Text Available Blalock-Taussig Shunt provides palliation for patients with cyanotic congenital heart diseases, where an intracardiac shunting from right-to-left with inadequate pulmonary blood flow. From June (1993 to June (2015, a retrospective study was conducted on 29  patients with complex congenital cyanotic heart diseases.They underwent Blalock-Taussig Shunt at Ibn Albitar Hospital for Cardiac Surgery. Both classical (n=4 and modified Blalock-Taussig Shunts (n=25 were done. The underlying cyanotic congenital heart diseases included tetraology of fallot (n=14, transposition of great arteries (n=6, tricusp atrasia (n=3, double outlet ventricle (n=5 and pulmonary stenosis with atrial septal defect (n=1. The age of patients at the operation ranged between 2 weeks to 13 years with a mean age of 49 ± 59, and the patients' weight ranged between 3-30 Kg with a mean weight of 11.3 ± 7.5.All shunts were performed through left or right lateral thoracotomy via fourth intercostal space. In modified Blalock-Taussig Shunts, different sizes of PTFE vascular grafts ranged between 3 to 8 mm were used . Echocardiographic studies were performed for all patients, but cardiac catheterizations were less frequently used. Shunt patency and length of satisfactory palliation for all patients were determined by different criteria. The overall mortalities were 12 patients. The majority of their deaths was related to shunt failure. Early deaths were recorded for 7 patients, 5 of them were related to shunt failure, and other 2 deaths are irrelative to shunt failure. Late deaths were 5 shunts. The overall shunt failures were 12 shunts. Most of shunt failures occurred in patients with main pulmonary artery size 6mm using graft size 6mm in modified Blalock-Taussig Shunt. In conclusions, Blalock-Taussig Shunt is good palliation for cyanotic congenital heart diseases

  15. A congenital malformation of the systemic heart complex in Sepia officinalis L. (Cephalopoda)

    Science.gov (United States)

    Schipp, R.; von Boletzky, S.; Jakobs, P.; Labourg, P. J.

    1998-03-01

    In semi-adult Sepia officinalis L. (Cephalopoda) from the Bay of Arcachon (France) a congenital malformation of the systemic heart is described by macro-and microscopical methods. It concerns an atypical doubling of the site of insertion at the cephalic aorta at the apical ventricle. Its comparison with the paired anlagen of the systemic heart complex in normal embryogenesis and the central circulatory system of Nautilus gives rise to interpret it as a form of atavism. The possible causal role of mutagenic antifoulings is discussed.

  16. Description and initial evaluation of an educational and psychosocial support model for adults with congenitally malformed hearts.

    Science.gov (United States)

    Rönning, Helén; Nielsen, Niels Erik; Swahn, Eva; Strömberg, Anna

    2011-05-01

    Various programmes for adults with congenitally malformed hearts have been developed, but detailed descriptions of content, rationale and goals are often missing. The aim of this study was to describe and make an initial evaluation of a follow-up model for adults with congenitally malformed hearts, focusing on education and psychosocial support by a multidisciplinary team (EPS). The model is described in steps and evaluated with regards to perceptions of knowledge, anxiety and satisfaction. The EPS model included a policlinic visit to the physician/nurse (medical consultation, computer-based and individual education face-to-face as well as psychosocial support) and a 1-month telephone follow-up. Fifty-five adults (mean age 34, 29 women) with the nine most common forms of congenitally malformed hearts participated in the EPS model as well as the 3-months follow-up. Knowledge about congenital heart malformation had increased in 40% of the participants at the 3-months follow-up. This study describes and evaluates a model that combines a multidisciplinary approach and computer-based education for follow-up of adults with congenitally malformed hearts. The EPS model was found to increase self-estimated knowledge, but further evaluations need to be conducted to prove patient-centred outcomes over time. The model is now ready to be implemented in adults with congenitally malformed hearts. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  17. Ablation of supraventricular arrhythmias in adult congenital heart disease: A contemporary review.

    Science.gov (United States)

    Combes, Nicolas; Derval, Nicolas; Hascoët, Sebastien; Zhao, Alexandre; Amet, Denis; Le Bloa, Mathieu; Maltret, Alice; Heitz, François; Thambo, Jean-Benoit; Marijon, Eloi

    2017-05-01

    Supraventricular arrhythmias are an important and increasing cause of morbidity in adults with congenital heart disease, requiring specific management strategies. Pharmacological treatment has limited efficacy, and is often associated with some side-effects. Major improvements in catheter ablation techniques have opened new opportunities to better understand underlying mechanisms of supraventricular arrhythmias, offer better therapy, and eventually improve symptoms and quality of life in these patients. An array of tools and techniques are necessary to access relevant anatomical areas to address the arrhythmogenic substrate. The mechanism of these arrhythmias is mostly related to macroreentry around surgical scars or cavotricuspid isthmus-dependent flutter. The efficacy of catheter ablation is mainly dependent on the underlying congenital heart condition, with the most complex cases typically being associated with atrial switch and Fontan surgeries. Although relatively high rates of recurrence are seen after a single procedure, additional attempts are often helpful to decrease recurrences and improve symptoms. Catheter ablation in such patients continues to present many unique challenges that are best addressed by experienced multidisciplinary teams, at centres equipped with the proper catheters, imaging capabilities, mapping systems and support staff needed to maximize safety and success. Consensus indications have emerged that often support ablation as first-line therapy in these patients. In this comprehensive review, we aim to describe the specific issues associated with ablation of supraventricular arrhythmias in adult congenital heart disease, assess the results in contemporary practice and, finally, review the current indications. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  18. Autoimmune reaction against neurospecific proteins and life quality of patients with congenital heart failure

    Directory of Open Access Journals (Sweden)

    H. M. Lisunets

    2014-03-01

    Full Text Available The results of experimental investigation of autoimmune reaction targeted against neirospecific protein antigens in patients with congenital heart failure are presented. It is shown that titer for autoanibodies to these patients’ brain proteins is significantly higher compared with healthy persons. Elevation of titer of these autoantibodies is correlated with the ability to solve tasks for revealing complex analogies and decrease of life quality. Therefore, worsening of life quality and development of cognitive deficit in patients with cardiovascular diseases might be associated with autoimmune reaction against specific proteins of nervous tissue cells. The results obtained demonstrate that generation of autoantibodies in patients with congenital heart failure is linked with the cognitive deficit. One of the most important causes of cognitive decline could be hypoxia state due to surgery intervention. Consequences of hypoxia, in their turn, are accompanied by chronic oxidative stress. Molecular and cell injuries induced by free radicals are known to be the widely spread cause of various pathologies. Further investigations for validation of diagnostic hallmarks for estimation of the origin of progression of the cognitive deficit in patients with congenital heart failure are needed. These studies will allow clarifying mechanisms of influence of hypoxia-induced injuries associated with the aggravation of oxidative stress in nervous tissue cells. Understanding of relationship between decline of cognitive function and pathologies of cardiovascular system is necessary for more precise clinical diagnostics of the early prevention of possible complications and proper treatment of patients.

  19. The Influence of Fluid Overload on the Length of Mechanical Ventilation in Pediatric Congenital Heart Surgery.

    Science.gov (United States)

    Sampaio, Tatiana Z A L; O'Hearn, Katie; Reddy, Deepti; Menon, Kusum

    2015-12-01

    Fluid overload and prolonged mechanical ventilation lead to worse outcomes in critically ill children. However, the association between these variables in children following congenital heart surgery is unknown. The objectives of this study were to describe the association between fluid overload and duration of mechanical ventilation, oxygen requirement and radiologic findings of pulmonary and chest wall edema. This study is a retrospective chart review of patients who underwent congenital heart surgery between June 2010 and December 2013. Univariate and multivariate associations between maximum cumulative fluid balance and length of mechanical ventilation and OI were tested using the Spearman correlation test and multiple linear regression models, respectively. There were 85 eligible patients. Maximum cumulative fluid balance was associated with duration of mechanical ventilation (adjusted analysis beta coefficient = 0.53, CI 0.38-0.66, P mechanical ventilation (P = 0.012 and 0.014, respectively). Fluid overload is associated with prolonged duration of mechanical ventilation and PICU length of stay after congenital heart surgery. Fluid overload was also associated with physiological markers of respiratory restriction. A randomized controlled trial of a restrictive versus liberal fluid replacement strategy is necessary in this patient population, but in the meantime, accumulating observational evidence suggests that cautious use of fluid in the postoperative care may be warranted.

  20. Quality of life of adult congenital heart disease patients: a systematic review of the literature.

    Science.gov (United States)

    Fteropoulli, Theodora; Stygall, Jan; Cullen, Shay; Deanfield, John; Newman, Stanton P

    2013-08-01

    This review explores the quality of life of adult congenital heart disease patients and the relationship between disease severity and quality of life. We searched seven electronic databases and the bibliography of articles. The 31 selected studies fulfilled the following criteria: adult population; quantitative; assessment of quality of life and/or impact of disease severity on quality of life using validated measures; English language. Data extraction forms were used to summarise the results. There are evident methodological limitations within the reviewed studies such as heterogeneous populations, designs, and quality of life conceptualisations and measurements. Despite these problems, findings suggest that the quality of life of adult congenital heart disease patients is compromised in the physical domain compared with their healthy counterparts, whereas no differences were found in relation to the psychosocial and environmental/occupational domain. Some severity variables appear to be significant correlates of quality of life and could be considered in a future standardised classification of disease severity. The methodological limitations of past research in relation to the definition and measurement of quality of life, the study designs, and disease severity classifications need to be addressed in future studies in order to provide robust evidence and valid conclusions in this area of study. This will enable the development of targeted interventions for the improvement of quality of life in the adult population of congenital heart disease patients.

  1. Prevalence of congenital heart disease among Palestinian children born in the Gaza Strip.

    Science.gov (United States)

    Zaqout, Mahmoud; Aslem, Emad Said; Oweida, Forijat Sadeldin; De Wolf, Daniel

    2014-10-01

    This study was designed to estimate the birth prevalence of children with congenital heart disease born in the Gaza Strip during 2010 and to compare these with estimates from elsewhere. We reviewed the medical records of all children born in 2010 who were diagnosed, treated, and/or followed up in the four paediatric cardiology clinics in the Gaza Strip. Data were also obtained from El Makassed Hospital in East Jerusalem and from the Schneider Hospital, Wolfson Medical Center, and Tel HaShomer Hospital in Israel, where we had referred some of our patients for percutaneous or surgical treatment. A total of 598 children with congenital heart disease were detected among the 59,757 children born alive in the Gaza Strip during 2010, yielding a birth incidence of 10 per 1000 live births. The most frequently occurring conditions were ventricular septal defects (28%), ostium secundum atrial septal defects (17%), patent ductus arteriosus (8.5%), and pulmonary valve abnormalities (8%). In this study, 7% of the children died. The actuarial survival at 6 months and 1 year of age was 94% and 93%, respectively, and remained stable over 18 months of follow-up. The birth incidence of congenital heart disease in the Gaza Strip in 2010 (10 per 1000) is higher than most estimates in Western Europe (8.2 per 1000 live births) and North America (6.9 per 1000 live births) but is similar to estimates from other parts of Asia (9.3 per 1000 live births).

  2. 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. 

  3. Imaging modalities in the treatment of congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Leeuwen, H. van; Vorstenbosch, E. van [Philips Medical Systems, Best (Netherlands)

    2004-07-01

    Approximately one child in a hundred is born with some form of heart defect. Many of these conditions can now be treated, either by surgery or by less invasive interventional procedures. In almost every case, successful treatment depends on diagnostic imaging, in order to determine the nature, location and severity of the condition. Nowadays, diagnosis and sometimes treatment may start even before birth. This article describes the roles of the various imaging modalities in diagnosis and treatment, including echocardiography, X-ray angiography, MRI and multislice CT. Particular attention is paid to the importance of radiation safety in pediatric imaging. (orig.)

  4. Congenital heart disease in children: coronary MR angiography during systole and diastole with dual cardiac phase whole-heart imaging.

    Science.gov (United States)

    Uribe, Sergio; Hussain, Tarique; Valverde, Israel; Tejos, Cristian; Irarrazaval, Pablo; Fava, Mario; Beerbaum, Philipp; Botnar, Rene M; Razavi, Reza; Schaeffter, Tobias; Greil, Gerald F

    2011-07-01

    To assess the optimal timing for coronary magnetic resonance (MR) angiography in children with congenital heart disease by using dual cardiac phase whole-heart MR imaging. The local institutional review board approved this study, and informed consent was obtained from parents or guardians. Thirty children (13 girls; overall mean age, 5.01 years) were examined with a 1.5-T MR system. A free-breathing three-dimensional steady-state free precession dual cardiac phase sequence was used to obtain MR angiographic data during end-systolic and middiastolic rest periods. Vessel length, diameter, and sharpness, as well as image quality of the coronary artery segments, were analyzed and compared by using Bland-Altman plots, linear regression analysis, the t test, and Wilcoxon signed rank tests. Optimal coronary artery imaging timing was patient dependent and different for each coronary artery segment (36 segments favored end systole, 28 favored middiastole). In 15 patients (50%), different segments favored different cardiac phases within the same patient. Image quality and vessel sharpness degraded with higher heart rates, with a similar correlation for end systole (right coronary artery [RCA], 0.39; left main [LM] coronary artery, 0.46; left anterior descending [LAD] artery, 0.51; and left circumflex [LCX] artery, 0.50) and middiastole (RCA, 0.34; LM, 0.45; LAD, 0.48; and LCx, 0.55). Mean image quality difference or mean vessel sharpness difference showed no indication to prefer a specific cardiac phase. The optimal cardiac rest period for coronary MR angiography in children with congenital heart disease is specific for each coronary artery segment. Dual cardiac phase whole-heart coronary MR angiography enables optimal coronary artery visualization by retrospectively choosing the optimal imaging rest period.

  5. Ro/SSA autoantibodies directly bind cardiomyocytes, disturb calcium homeostasis, and mediate congenital heart block.

    Science.gov (United States)

    Salomonsson, Stina; Sonesson, Sven-Erik; Ottosson, Lars; Muhallab, Saad; Olsson, Tomas; Sunnerhagen, Maria; Kuchroo, Vijay K; Thorén, Peter; Herlenius, Eric; Wahren-Herlenius, Marie

    2005-01-03

    Congenital heart block develops in fetuses after placental transfer of Ro/SSA autoantibodies from rheumatic mothers. The condition is often fatal and the majority of live-born children require a pacemaker at an early age. The specific antibody that induces the heart block and the mechanism by which it mediates the pathogenic effect have not been elucidated. In this study, we define the cellular mechanism leading to the disease and show that maternal autoantibodies directed to a specific epitope within the leucine zipper amino acid sequence 200-239 (p200) of the Ro52 protein correlate with prolongation of fetal atrioventricular (AV) time and heart block. This finding was further confirmed experimentally in that pups born to rats immunized with p200 peptide developed AV block. p200-specific autoantibodies cloned from patients bound cultured cardiomyocytes and severely affected Ca2+ oscillations, leading to accumulating levels and overload of intracellular Ca2+ levels with subsequent loss of contractility and ultimately apoptosis. These findings suggest that passive transfer of maternal p200 autoantibodies causes congenital heart block by dysregulating Ca2+ homeostasis and inducing death in affected cells.

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

    International Nuclear Information System (INIS)

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

    2007-01-01

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

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

    Science.gov (United States)

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

    2016-01-01

    To report the prevalence of aortic valve prosthesis-patient mismatch (PPM) in an adult population with congenital heart disease (CHD) and its impact on exercise capacity. Adults with congenital heart disease (ACHD) with a history of aortic valve replacement may outgrow their prosthesis later in life. However, the prevalence and clinical consequences of aortic PPM in ACHD are presently unknown. From the national Dutch Congenital Corvitia (CONCOR) registry, we identified 207 ACHD with an aortic valve prosthesis for this cross-sectional cohort study. Severe PPM was defined as an indexed effective orifice area ≤0.65 cm2/m2 and moderate PPM as an indexed orifice area ≤0.85 cm2/m2 measured using echocardiography. Exercise capacity was reported as percentage of predicted exercise capacity (PPEC). Of the 207 patients, 68% was male, 71% had a mechanical prosthesis and mean age at inclusion was 43.9 years ±11.4. The prevalence of PPM was 42%, comprising 23% severe PPM and 19% moderate PPM. Prevalence of PPM was higher in patients with mechanical prostheses (preport a high prevalence (42%) of PPM in ACHD with an aortic valve prosthesis and an independent association of PPM with diminished exercise capacity. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  8. Congenital heart defects in newborns with apparently isolated single gastrointestinal malformation: A retrospective study.

    Science.gov (United States)

    Schierz, Ingrid Anne Mandy; Pinello, Giuseppa; Giuffrè, Mario; La Placa, Simona; Piro, Ettore; Corsello, Giovanni

    2016-12-01

    Congenital gastrointestinal system malformations/abdominal wall defects (GISM) may appear as isolated defects (single or complex), or in association with multiple malformations. The high incidence of association of GISM and congenital heart defects (CHD) in patients with syndromes and malformative sequences is known, but less expected is the association of apparently isolated single GISM and CHD. The aim of this study was to investigate the frequency of CHD in newborns with isolated GISM, and the possibility to modify the diagnostic-therapeutic approach just before the onset of cardiac symptoms or complications. Anamnestic, clinical, and imaging data of newborns requiring abdominal surgery for GISM, between 2009 and 2014, were compared with a control group of healthy newborns. Distribution of GISM and cardiovascular abnormalities were analyzed, and risk factors for adverse outcomes were identified. Seventy-one newborns with isolated GISM were included in this study. More frequent GISM were intestinal rotation and fixation disorders. CHD were observed in 15.5% of patients, augmenting their risk for morbidity. Risk factors for morbidity related to sepsis were identified in central venous catheter, intestinal stoma, and H2-inhibitor-drugs. Moreover, 28.2% of newborns presented only functional cardiac disorders but an unexpectedly higher mortality. The high incidence of congenital heart disease in infants with apparently isolated GISM confirms the need to perform an echocardiographic study before surgery to improve perioperative management and prevent complications such as sepsis and endocarditis. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  9. Caries experience in young children with congenital heart disease in a developing country

    Directory of Open Access Journals (Sweden)

    Elizangela Lins Cavalcanti Pimentel

    2013-04-01

    Full Text Available Oral care is frequently suboptimal in children from developing countries, especially those suffering from severe systemic diseases. The aim of the present study was to analyze the oral epidemiological profile of 3-to-5-year-old children with congenital heart disease. Dental and medical records of children evaluated at the Dental Service of the National Institute of Cardiology, Rio de Janeiro, Brazil, were reviewed. Caries experience was reported using the dmft index. Negative behavior towards dental management was recorded. The sample consisted of 144 children aged 4.41 ± 0.95 years. The mean dmft value was 5.4 ± 4.9, and 80.5% had at least one caries lesion. Dmft index was greater in the presence of cyanotic cardiac disease and in children with negative behavior. An increase in the “missing” component of the dmft index was also found in children using medicine on a daily basis. A higher caries experience was associated with children whose fathers had only an elementary education. In conclusion, children with congenital heart disease had high levels of caries experience at a young age. Cyanosis, negative behavior, daily use of medicine, one-parent family and the educational level of fathers seem to influence caries experience in children with congenital cardiac disease.

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

    Science.gov (United States)

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

    2014-01-01

    In patients with acquired valvar disease, morbidity and mortality rates after tricuspid valve replacement (TVR) are high. However, in adult patients with congenital heart disease, though data concerning outcome after TVR are scarce, even poorer results are suggested in patients with Ebstein anomaly. To investigate the applicability of these results to a broader array of congenital heart disease patients, we report the long-term follow-up of prosthesis-related complications, including re-replacement of patients with a tricuspid valve prosthesis and congenital heart disease. From the Dutch Congenital Corvitia (CONCOR) registry, we identified 20 patients with a biological or mechanical tricuspid valve prosthesis implanted between 1977 and 2012 (total of 31 prostheses). We analysed the tricuspid valve-related complications and mortality. Ten patients with a median age of 16.2 years at the time of surgery (interquartile range 13.2-28.2 years) received a bioprosthesis while 10 patients with a median age of 36.4 years (interquartile range 14.0-47.0) at the time of surgery received a mechanical prosthesis (P = 0.28). During a mean follow-up of 14 years, 50% needed a re-replacement because of valve-related complications (e.g. valve degeneration or valve thrombosis). The yearly percentage of patients with valve-related complications was 4.2% in patients with a bioprosthesis and 2.7% in those with a mechanical prosthesis. Within 20 years of implantation, the median duration of event-free survival was significantly shorter in 3 patients with a prosthesis-patient mismatch (PPM; 1.0 year; interquartile range 0.01-2.6), compared with 7 without mismatch (8.0 years; interquartile range 5.1-12.3; P = 0.02). Compared with previous literature on acquired valvar disease, we found a higher incidence of valve-related complications in patients with congenital heart disease that was unrelated to prosthesis material. Our data suggest that PPM may have a negative effect on the event

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

    NARCIS (Netherlands)

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

    2010-01-01

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

  12. Establishment of Relational Model of Congenital Heart Disease Markers and GO Functional Analysis of the Association between Its Serum Markers and Susceptibility Genes

    OpenAIRE

    Liu, Min; Zhao, Luosha; Yuan, Jiaying

    2016-01-01

    Purpose. The purpose of present study was to construct the best screening model of congenital heart disease serum markers and to provide reference for further prevention and treatment of the disease. Methods. Documents from 2006 to 2014 were collected and meta-analysis was used for screening susceptibility genes and serum markers closely related to the diagnosis of congenital heart disease. Data of serum markers were extracted from 80 congenital heart disease patients and 80 healthy controls,...

  13. Variety of prenatally diagnosed congenital heart disease in 22q11.2 deletion syndrome

    Science.gov (United States)

    Lee, Mi-Young; Baek, Ju Won; Cho, Jae-Hyun; Shim, Jae-Yoon; Lee, Pil-Ryang; Kim, Ahm

    2014-01-01

    Objective To analyze the spectrum of prenatally diagnosed congenital heart disease in a Korean population with 22q11.2 deletion syndrome, and to provide guidelines for screening 22q11.2 deletion prenatally. Methods This retrospective study evaluated 1,137 consecutive fetuses that had prenatal genetic testing for 22q11.2 deletion because of suspected congenital heart disease between September 2002 and December 2012, at Asan Medical Center, Seoul, Korea. Results Main cardiovascular diseases in the 53 fetuses with confirmed 22q11.2 deletions were tetralogy of Fallot (n = 24, 45%), interrupted aortic arch (n = 10, 19%), ventricular septal defect (n = 5, 9%), double outlet right ventricle (n = 4, 8%), and coarctation of the aorta (n = 4, 8%). Other cardiac defects were rarely associated with 22q11.2 deletion. One fetus had persistent truncus arteriosus, one had aortic stenosis, and one had hypoplastic right heart syndrome. Two fetuses had normal intracardiac anatomy with an isolated right aortic arch, and one had an isolated bilateral superior vena cava. Conclusion A variety of congenital heart diseases were seen during the prenatal period. Conotruncal cardiac defects except transposition of great arteries were strongly associated with 22q11.2 deletion. When such anomalies are diagnosed by fetal echocardiography, genetic testing for 22q11.2 deletion should be offered. Even if less frequent deletion-related cardiac defects are detected, other related anomalies, such as thymic hypoplasia or aplasia, should be evaluated to rule out a 22q11.2 deletion. PMID:24596813

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

    Science.gov (United States)

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

    2018-03-01

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

  15. Case Report: First Reported Combined Heart-Liver Transplant in a Patient With a Congenital Solitary Kidney.

    Science.gov (United States)

    Hanna, R M; Kamgar, M; Hasnain, H; Khorsan, R; Nsair, A; Kaldas, F; Baas, A; Bunnapradist, S; Wilson, J M

    2018-02-16

    We report a case of successful combined heart liver transplant in a patient with a congenital solitary kidney. The patient had normal renal function before combined heart-liver transplantation and developed acute kidney injury requiring slow continuous dialysis and subsequent intermittent dialysis for almost 8 weeks post transplantation. Her renal function recovered and she remains off dialysis now 7 months post transplantation. She only currently has mild chronic renal insufficiency. We believe this is the first reported case of successful heart liver transplant in a patient with a congenital solitary kidney. Published by Elsevier Inc.

  16. Organ Allocation In Adults With Congenital Heart Disease Listed For Heart Transplant: The Impact Of Ventricular Assist Devices

    Science.gov (United States)

    Gelow, Jill M.; Song, Howard K.; Weiss, Joseph B.; Mudd, James O.; Broberg, Craig S.

    2013-01-01

    Background Adults with congenital heart disease (CHD) listed for heart transplantation infrequently are supported with ventricular assist devices (VADs). This may disadvantage their priority for organ allocation. We sought to determine the relationship between VAD implantation and successful transplantation among patients listed for heart transplant. Methods Adults with CHD patients (N=1,250) were identified in the United Network for Organ Sharing (UNOS) database from 1985 – 2010 and compared to patients without congenital etiology for heart failure (N=59,606). VAD use at listing, listing status, status upgrades, and reasons for upgrade prior to transplant were trended at 5 year intervals and appropriate statistical comparisons were made between groups. Results Since 1985, VAD use prior to transplant has increased significantly in patients without CHD but not in CHD patients (17% vs. 3% in 2006–2010, p<0.0001). CHD patients were more likely to be listed as status 2, compared to those without (66% vs. 40%, p<0.001 for 2006–2010), and less likely to be upgraded to status 1 after listing (43% vs. 55%, p=0.03). Among those upgraded to status 1, CHD patients were less likely to have a VAD at transplant than those without (3% vs. 18%, p=0.005). VAD use was more likely to result in death in CHD patients. Conclusions VAD use is less common in CHD patients than patients without CHD, both at the time of listing and transplantation. Reduced VAD use appears to contribute to lower listing status and organ allocation. These differences have grown more disparate over time. Separate criteria for organ allocation for CHD patients may be justified. PMID:23921356

  17. Congenital anomalies of coronary arteries in complex congenital heart disease: diagnosis and analysis with dual-source CT.

    Science.gov (United States)

    Yu, Fang-fang; Lu, Bin; Gao, Yang; Hou, Zhi-hui; Schoepf, U Joseph; Spearman, James V; Cao, Hui-li; Sun, Ming-li; Jiang, Shi-liang

    2013-01-01

    Congenital heart diseases (CHDs) are sometimes associated with coronary artery anomalies (CAAs). Accurate preoperative evaluation of coronary artery anatomy is essential for successful surgical repair of complex CHD. The aim of this study was to evaluate the incidence of congenital CAAs in patients with complex CHD at dual-source CT. Four hundred seventeen consecutive patients with complex CHD underwent contrast-enhanced cardiac CT angiography. The results were retrospectively analyzed, including the types and incidences of CAAs in various forms of complex CHD. Each patient was analyzed independently by 2 experienced cardiovascular radiologists. Image quality of coronary arteries was assessed on a 5-point scale with 2 or less being nondiagnostic. Thirty-five of 417 studies were nondiagnostic (8.39%). Sixty-three cases of CAA (15.11%) were detected by anomalous ostia and coronary arteries. CAA was involved in 6 of 108 patients with tetralogy of Fallot (5.56%), 18 of 84 patients with double outlet right ventricle (21.43%), 11 of 97 patients with pulmonary artery atresia (11.34%), 7 of 36 patients with transposition of the great arteries (22.22%), 15 of 41 patients with single ventricle (36.59%), 4 of 12 patients with truncus arteriosus/aortopulmonary window (33.33%), and 2 of 39 patients with interruption of the aortic arch/coarctation of the aorta (5.13%). Twenty of these were accompanied with an anomalous coronary course (31.74%). Patients with complex CHD have a higher prevalence of CAAs, which should be considered before surgery. Dual-source CT is an effective technique to visualize and evaluate complex CHD. Copyright © 2013 Society of Cardiovascular Computed Tomography. Published by Elsevier Inc. All rights reserved.

  18. Family-based studies to identify genetic variants that cause congenital heart defects.

    Science.gov (United States)

    Arrington, Cammon B; Bleyl, Steven B; Brunelli, Luca; Bowles, Neil E

    2013-07-01

    Congenital heart defects (CHDs) are the most common congenital abnormalities. Analysis of large multigenerational families has led to the identification of a number of genes for CHDs. However, identifiable variations in these genes are the cause of a small proportion of cases of CHDs, suggesting significant genetic heterogeneity. In addition, large families with CHDs are rare, making the identification of additional genes difficult. Next-generation sequencing technologies will provide an opportunity to identify more genes in the future. However, the significant genetic variation between individuals will present a challenge to distinguish between 'pathogenic' and 'benign' variants. We have demonstrated that the analysis of multiple individuals in small families using combinations of algorithms can reduce the number of candidate variants to a small, manageable number. Thus, the analysis of small nuclear families or even distantly related 'sporadic' cases may begin to uncover the 'dark matter' of CHD genetics.

  19. A brief history of fetal echocardiography and its impact on the management of congenital heart disease.

    Science.gov (United States)

    Maulik, Dev; Nanda, Navin C; Maulik, Devika; Vilchez, Gustavo

    2017-12-01

    Congenital heart disease (CHD), the most common congenital malformation, is associated with adverse outcome. Development of fetal echocardiography has made prenatal diagnosis of CHD a reality, and in the process revolutionized its management. This historical review briefly narrates this development over the decades focusing on the emergence of the primary modalities of fetal echocardiography comprised of the time-motion mode, two-dimensional B-mode, spectral Doppler, color Doppler, and three- and four-dimensional cardiac imaging. Collaboration between clinicians and engineers has been central to these advances. Also discussed are the accuracy and impact of fetal echocardiography on the management of CHD, and especially its role in the prenatal diagnosis of critical CHD in individualizing the management and improving the outcome. Despite these advances, most cases of CHD are not identified prenatally, emphasizing the continuing need for further technological and educational innovation and improvement. © 2017, Wiley Periodicals, Inc.

  20. Home-based interval training increases endurance capacity in adults with complex congenital heart disease.

    Science.gov (United States)

    Sandberg, Camilla; Hedström, Magnus; Wadell, Karin; Dellborg, Mikael; Ahnfelt, Anders; Zetterström, Anna-Klara; Öhrn, Amanda; Johansson, Bengt

    2017-12-04

    The beneficial effects of exercise training in acquired heart failure and coronary artery disease are well known and have been implemented in current treatment guidelines. Knowledge on appropriate exercise training regimes for adults with congenital heart disease is limited, thus further studies are needed. The aim of this study was to examine the effect of home-based interval exercise training on maximal endurance capacity and peak exercise capacity. Randomized controlled trial. Twenty-six adults with complex congenital heart disease were recruited from specialized units for adult congenital heart disease. Patients were randomized to either an intervention group-12 weeks of home-based interval exercise training on a cycle ergometer (n = 16), or a control group (n = 10). The latter was instructed to maintain their habitual physical activities. An incremental cardiopulmonary exercise test and a constant work rate cardiopulmonary exercise test at 75% of peak workload were performed preintervention and postintervention. Twenty-three patients completed the protocol and were followed (intervention n = 13, control n = 10). Postintervention exercise time at constant work rate cardiopulmonary exercise test increased in the intervention group compared to controls (median[range] 12[-4 to 52]min vs 0[-4 to 5]min, P = .001). At incremental cardiopulmonary exercise test, peak VO 2 increased 15% within the intervention group (P = .019) compared to 2% within the control group (P = .8). However, in comparison between the groups no difference was found (285[-200 to 535] ml/min vs 17[-380 to 306] ml/min, P = .10). In addition, peak workload at incremental cardiopulmonary exercise test increased in the intervention group compared to controls (20[-10 to 70]W vs 0[-20 to 15]W, P = .003). Home-based interval exercise training increased endurance capacity and peak exercise capacity in adults with complex congenital heart disease. Aerobic endurance

  1. The concept of double inlet-double outlet right ventricle: a distinct congenital heart disease.

    Science.gov (United States)

    Spadotto, Veronica; Frescura, Carla; Ho, Siew Yen; Thiene, Gaetano

    The aim of this study was to estimate the incidence and to analyze the anatomy of double inlet-double outlet right ventricle complex and its associated cardiac anomalies in our autopsy series. Among the 1640 hearts with congenital heart disease of our Anatomical Collection, we reviewed the specimens with double inlet-double outlet right ventricle, according to the sequential-segmental analysis, identifying associated cardiac anomalies and examining lung histology to assess the presence of pulmonary vascular disease. We identified 14 hearts with double inlet-double outlet right ventricle (0.85%). Right atrial isomerism was observed in 10 hearts, situs solitus in 3 and left atrial isomerism in one. Regarding the mode of atrioventricular connection, all hearts but one had a common atrioventricular valve. Systemic or pulmonary venous abnormalities were noted in all patients with atrial isomerism. In nine patients a valvular or subvalvular pulmonary stenosis was present. Among the functionally "univentricular hearts", double inlet- double outlet right ventricle represents a peculiar entity, mostly in association with right atrial isomerism. Multiple cardiac anomalies are associated and may complicate surgical repair. Copyright © 2016 Elsevier Inc. All rights reserved.

  2. Current Interventional and Surgical Management of Congenital Heart Disease: Specific Focus on Valvular Disease and Cardiac Arrhythmias.

    Science.gov (United States)

    Holst, Kimberly A; Said, Sameh M; Nelson, Timothy J; Cannon, Bryan C; Dearani, Joseph A

    2017-03-17

    Successful outcome in the care of patients with congenital heart disease depends on a comprehensive multidisciplinary team. Surgery is offered for almost every heart defect, despite complexity. Early mortality for cardiac surgery in the neonatal period is ≈10% and beyond infancy is Arrhythmias and heart failure are the most common late complications for the majority of defects, and reoperation for valvar problems is common. Lifelong surveillance for monitoring of recurrent or residual structural heart defects, as well as periodic assessment of cardiac function and arrhythmia monitoring, is essential for all patients. The field of congenital heart surgery is poised to incorporate new innovations such as bioengineered cells and scaffolds that will iteratively move toward bioengineered patches, conduits, valves, and even whole organs. © 2017 American Heart Association, Inc.

  3. Cardiovascular and Neonatal Outcomes in Pregnant Women With High-Risk Congenital Heart Disease.

    Science.gov (United States)

    Pillutla, Priya; Nguyen, Tina; Markovic, Daniela; Canobbio, Mary; Koos, Brian J; Aboulhosn, Jamil A

    2016-05-15

    Congenital heart disease (CHD) increases the risk of adverse maternal and neonatal outcomes. However, previous studies have included mainly women with low-risk features. A single-center, retrospective analysis of pregnant women with CHD was performed. Inclusion criteria were the following high-risk congenital lesions and co-morbidities: maternal cyanosis; New York Heart Association (NHYA) functional class >II; severe ventricular dysfunction; maternal arrhythmia, single ventricle (SV) physiology, severe left-sided heart obstruction and severe pulmonary arterial hypertension. Multivariate analyses for predictors of adverse maternal cardiovascular and neonatal outcomes were performed. Forty-three women reported 61 pregnancies. There were no maternal or neonatal deaths. Maternal cardiac (31%) and neonatal (54%) complications were frequent. The most frequent cardiac events were pulmonary edema, arrhythmia, and reduced NYHA class. Previous arrhythmia conferred a 12-fold increase in the odds of experiencing at least one major cardiac complication. Maternal SV physiology was an independent risk factor for low birth weight, risk of neonatal intensive care unit admission and lower gestational age. Maternal cyanosis and severe pulmonary arterial hypertension also predicted adverse neonatal outcomes. In conclusion, mothers without antepartum arrhythmia or functional incapacity are unlikely to experience arrhythmias or a decrease in NYHA class during pregnancy. In addition, SV physiology is a robust predictor of neonatal complications. Antepartum counseling and assessment of maternal fitness are crucial for the woman with CHD. Copyright © 2016 Elsevier Inc. All rights reserved.

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

    International Nuclear Information System (INIS)

    Akagi, Teiji; Kiyomatsu, Yumi; Ohara, Nobutoshi; Takagi, Junichi; Sato, Noboru; Kato, Hirohisa; Eto, Takaharu.

    1989-01-01

    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)

  5. Effect of complex cardiac rehabilitation on physical activity and quality of life during long-term follow-up after surgical correction of congenital heart disease.

    Science.gov (United States)

    Gierat-Haponiuk, Katarzyna; Haponiuk, Ireneusz; Szalewska, Dominika; Chojnicki, Maciej; Jaworski, Radosław; Niedoszytko, Piotr; Leszczyńska, Katarzyna; Bakuła, Stanisław

    2015-01-01

    Comprehensive cardiac rehabilitation (CCR) is an important element of the comprehensive management of grown-up congenital heart disease (GUCH) patients after surgical correction of congenital heart disease (CHD) but access to this treatment is still limited. We still lack Polish guidelines on CCR, including controlled training in young adults several years after surgical correction of CHD. To assess the effect of a CCR program on physical capacity, exercise tolerance, quality of life, and severity of depressive symptoms in GUCH patients long-term after surgical correction of CHD. We studied 57 CHD patients (30 females, 27 males, mean age 23 ± 3.4 years) at least 12 months after surgical correction of a ventricular septal defect (VSD) or ostium secundum atrial septal defect (ASD II). All patients were offered a CCR program, and 31 of them participated (rehabilitation group [Reh]) and 26 refused (non-rehabilitated group [NReh]). All patients underwent baseline cardiopulmonary exercise testing (CPET) using a cycloergometer and a ramp protocol with an initial load of 20 W followed by 10 W load increments per minute. Psychological evaluation included the Beck Depression Inventory (BDI) and the Euro QoL 5D questionnaire to evaluate quality of life. Patients were reassessed 30 days after the initial evaluation using the same investigations. During CPET, all patients reached peak exercise intensity at the level of 15-17 in the Borg scale without complications. Resting HR was lower in the Reh group (74 ± 8 bpm) compared to the NReh group (81 ± 14 bpm). During CPET, patients in the Reh group reached significantly higher peak HR and percent maximum HR. Workload increased nonsignificantly (144 W vs. 124 W, p = 0.121), while duration of exercise and peak oxygen consumption was significantly longer in the Reh group compared to the NReh group (14 min vs. 11 min, p = 0.001; and 27.5 mL/kg/min vs. 23 mL/kg/min, p = 0.003, respectively). Patients in the NReh group showed non

  6. Psychosocial risk in families of infants undergoing surgery for a serious congenital heart disease.

    Science.gov (United States)

    Hearps, Simone J; McCarthy, Maria C; Muscara, Frank; Hearps, Stephen J C; Burke, Kylie; Jones, Bryn; Anderson, Vicki A

    2014-08-01

    The aim of this study was to explore the acute psychosocial risk in families with infants undergoing surgery for a congenital heart disease and, secondarily, to explore the psychosocial impact of antenatal versus post-natal diagnoses. The study sample comprised 39 caregivers (28 mothers) of 29 children diagnosed with a congenital heart disease and requiring surgery within the first 4 weeks of life. Psychosocial risk was measured using the Psychosocial Assessment Tool, which was adapted to include four novel items examining infant risk factors, namely, sleeping, feeding, crying, and bonding difficulties. Parents' psychosocial risk was measured within 4 weeks after their child's surgery and stratified into a three-tiered framework: Universal, Targeted, and Clinical risk. Of the total sample, 61.5% of parents were classified as Universal, that is, at lowest risk; 35.9% as Targeted, and 2.6% as Clinical. The within-family parent total Psychosocial Assessment Tool score correlations were non-significant, and there were no differences between families of infants who received post-natal versus antenatal diagnosis or single ventricle versus biventricular repair. Linear regression found that a higher parent education significantly predicted a lower total Psychosocial Assessment Tool score. Findings indicate that, although the majority of parents adapt to the acute stress of surgery for a serious cardiac illness in their infant, the remaining 38.5% report an increased psychosocial risk associated with higher rates of emotional distress, which may impact on the parental quality of life and capacity for optimal parenting. The distribution of psychosocial risk in parents of children undergoing surgery for a congenital heart disease is consistent with that described for parents of children with other serious paediatric diagnoses.

  7. The Aristotle Comprehensive Complexity score predicts mortality and morbidity after congenital heart surgery.

    Science.gov (United States)

    Bojan, Mirela; Gerelli, Sébastien; Gioanni, Simone; Pouard, Philippe; Vouhé, Pascal

    2011-04-01

    The Aristotle Comprehensive Complexity (ACC) score has been proposed for complexity adjustment in the analysis of outcome after congenital heart surgery. The score is the sum of the Aristotle Basic Complexity score, largely used but poorly related to mortality and morbidity, and of the Comprehensive Complexity items accounting for comorbidities and procedure-specific and anatomic variability. This study aims to demonstrate the ability of the ACC score to predict 30-day mortality and morbidity assessed by the length of the intensive care unit (ICU) stay. We retrospectively enrolled patients undergoing congenital heart surgery in our institution. We modeled the ACC score as a continuous variable, mortality as a binary variable, and length of ICU stay as a censored variable. For each mortality and morbidity model we performed internal validation by bootstrapping and assessed overall performance by R(2), calibration by the calibration slope, and discrimination by the c index. Among all 1,454 patients enrolled, 30-day mortality rate was 3.4% and median length of ICU stay was 3 days. The ACC score strongly related to mortality, but related to length of ICU stay only during the first postoperative week. For the mortality model, R(2) = 0.24, calibration slope = 0.98, c index = 0.86, and 95% confidence interval was 0.82 to 0.91. For the morbidity model, R(2) = 0.094, calibration slope = 0.94, c index = 0.64, and 95% confidence interval was 0.62 to 0.66. The ACC score predicts 30-day mortality and length of ICU stay during the first postoperative week. The score is an adequate tool for complexity adjustment in the analysis of outcome after congenital heart surgery. Copyright © 2011 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  8. Comparative study of the Aristotle Comprehensive Complexity and the Risk Adjustment in Congenital Heart Surgery scores.

    Science.gov (United States)

    Bojan, Mirela; Gerelli, Sébastien; Gioanni, Simone; Pouard, Philippe; Vouhé, Pascal

    2011-09-01

    The Aristotle Comprehensive Complexity (ACC) and the Risk Adjustment in Congenital Heart Surgery (RACHS-1) scores have been proposed for complexity adjustment in the analysis of outcome after congenital heart surgery. Previous studies found RACHS-1 to be a better predictor of outcome than the Aristotle Basic Complexity score. We compared the ability to predict operative mortality and morbidity between ACC, the latest update of the Aristotle method and RACHS-1. Morbidity was assessed by length of intensive care unit stay. We retrospectively enrolled patients undergoing congenital heart surgery. We modeled each score as a continuous variable, mortality as a binary variable, and length of stay as a censored variable. We compared performance between mortality and morbidity models using likelihood ratio tests for nested models and paired concordance statistics. Among all 1,384 patients enrolled, 30-day mortality rate was 3.5% and median length of intensive care unit stay was 3 days. Both scores strongly related to mortality, but ACC made better prediction than RACHS-1; c-indexes 0.87 (0.84, 0.91) vs 0.75 (0.65, 0.82). Both scores related to overall length of stay only during the first postoperative week, but ACC made better predictions than RACHS-1; U statistic=0.22, p<0.001. No significant difference was noted after adjusting RACHS-1 models on age, prematurity, and major extracardiac abnormalities. The ACC was a better predictor of operative mortality and length of intensive care unit stay than RACHS-1. In order to achieve similar performance, regression models including RACHS-1 need to be further adjusted on age, prematurity, and major extracardiac abnormalities. Copyright © 2011 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  9. 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

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

    Science.gov (United States)

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

    2017-11-01

    The goal of this study was to assess the effect of associated gastrointestinal malformations (GI) on the outcomes of patients undergoing congenital heart operations. Neonates and infants with thoracic (esophageal atresia, tracheoesophageal fistula) and abdominal (duodenal stenosis/atresia, imperforate anus, Hirschsprung disease) GI malformations undergoing congenital heart operations between 1995 and 2015 were included. Two control groups were created, one for each group. Patients were matched by diagnosis, procedure, history of prematurity, presence of genetic syndrome, and a propensity score including weight and year of operation. The cohort included 383 patients: 52 (14%) with thoracic GI malformations and 98 (25%) thoracic GI controls, 80 (21%) with abdominal GI malformations and 153 (40%) abdominal GI controls. Median follow-up was 6 years (range, 16 days to 20 years). Patients with thoracic GI malformations had longer length of stay (p < 0.001), longer intubation times (p = 0.002), and higher perioperative death (p = 0.015) than controls. There was a tendency for worse overall survival than controls, mainly explained by the higher risk of early death (p = 0.06). No difference was found in outcomes between patients with abdominal GI malformations and controls. Patients with thoracic GI malformations have worse perioperative outcomes than controls, but their long-term survival does not seem to be significantly different. Abdominal GI malformations do not have a significant effect on outcomes. The presence of GI malformations should likely not preclude patients from undergoing congenital heart operations, but careful family counseling is necessary, especially for thoracic GI malformations. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

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

    Science.gov (United States)

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

    2016-03-01

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

  12. 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.

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

    International Nuclear Information System (INIS)

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

    1987-01-01

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

  14. 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.

  15. The Brain in Congenital Heart Disease across the Lifespan: The Cumulative Burden of Injury

    Science.gov (United States)

    Marelli, Ariane; Miller, Steven P.; Marino, Bradley Scott; Jefferson, Angela L.; Newburger, Jane W.

    2017-01-01

    The number of patients surviving with congenital heart disease (CHD) has soared over the last three decades. Adults constitute the fastest growing segment of the CHD population, now outnumbering children. Research to date on the heart-brain intersection in this population has largely been focused on neurodevelopmental outcomes in childhood and adolescence. Mutations in genes that are highly expressed in heart and brain may cause cerebral dysgenesis. Together with altered cerebral perfusion in utero, these factors are associated with abnormalities of brain structure and brain immaturity in a significant portion of neonates with critical CHD even before they undergo cardiac surgery. In infancy and childhood, the brain may be affected by risk factors related to heart disease itself or to its interventional treatments. As children with CHD become adults, they increasingly develop heart failure, atrial fibrillation, hypertension, diabetes and coronary disease. These acquired cardiovascular comorbidities can be expected to have effects similar to those in the general population on cerebral blood flow, brain volumes, and dementia. In both children and adults, cardiovascular disease may have adverse effects on achievement, executive function, memory, language, social interactions, and quality of life. In summary, against the backdrop of shifting demographics, risk factors for brain injury in the CHD population are cumulative and synergistic. As neurodevelopmental sequelae in children with CHD evolve to cognitive decline or dementia during adulthood, a growing population of CHD can be expected to require support services. We highlight evidence gaps and future research directions. PMID:27185022

  16. Transition of care in congenital heart disease from pediatrics to adulthood.

    Science.gov (United States)

    Said, Sameh M; Driscoll, David J; Dearani, Joseph A

    2015-04-01

    Improvement in surgical techniques, anesthesia, and perioperative care has resulted in the majority of children born with congenital heart defects surviving into adulthood with a normal or near-normal quality of life. A careful transition from pediatric to adult care providers is important to avoid issues related to loss of continuity of care and any undue financial or psychological burdens to the patients and their families. The patients, their families, and the health care providers are faced with many challenges during this transition process that can be optimized and overcome by education about the heart defects and a team approach with clear lines of communication. This review addresses the challenges related to the transition of care from pediatrics to adults and provides the necessary recommendations to ensure a smooth transition process. Copyright © 2015 Elsevier Inc. All rights reserved.

  17. Diagnosis and Management of Noncardiac Complications in Adults With Congenital Heart Disease: A Scientific Statement From the American Heart Association.

    Science.gov (United States)

    Lui, George K; Saidi, Arwa; Bhatt, Ami B; Burchill, Luke J; Deen, Jason F; Earing, Michael G; Gewitz, Michael; Ginns, Jonathan; Kay, Joseph D; Kim, Yuli Y; Kovacs, Adrienne H; Krieger, Eric V; Wu, Fred M; Yoo, Shi-Joon

    2017-11-14

    Life expectancy and quality of life for those born with congenital heart disease (CHD) have greatly improved over the past 3 decades. While representing a great advance for these patients, who have been able to move from childhood to successful adult lives in increasing numbers, this development has resulted in an epidemiological shift and a generation of patients who are at risk of developing chronic multisystem disease in adulthood. Noncardiac complications significantly contribute to the morbidity and mortality of adults with CHD. Reduced survival has been documented in patients with CHD with renal dysfunction, restrictive lung disease, anemia, and cirrhosis. Furthermore, as this population ages, atherosclerotic cardiovascular disease and its risk factors are becoming increasingly prevalent. Disorders of psychosocial and cognitive development are key factors affecting the quality of life of these individuals. It is incumbent on physicians who care for patients with CHD to be mindful of the effects that disease of organs other than the heart may have on the well-being of adults with CHD. Further research is needed to understand how these noncardiac complications may affect the long-term outcome in these patients and what modifiable factors can be targeted for preventive intervention. © 2017 American Heart Association, Inc.

  18. Socioeconomic status and impact of treatment on families of children with congenital heart disease

    International Nuclear Information System (INIS)

    Mughal, A.R.; Sidiq, M.; Hyder, S.N.; Qureshi, A.U.

    2011-01-01

    Objective: To assess the socioeconomic status, treatment being offered and the impact of congenital heart disease treatment on families. Study Design: Observational study. Place and Duration of Study: The Children's Hospital / Institute of Child Health, Lahore, from first March to 31 August 2010. Methodology: All patients undergoing a cardiac surgical or angiographic intervention were enrolled. Socioeconomic status was assessed by Kuppuswamy socioeconomic status scale with income group modification. The impact was measured by the source of financing, effect on family financing source and schooling and health of siblings. Results: Of 211 patients undergoing treatment in the study period, surgery was the definitive treatment in 164 (77.7%) and angiographic intervention in 47 (22.3%) patients. Male to female ratio was 1.5:1. The mean age of the patient was 39.1 +- 3.2 months (range 01 day to 15 years). Majority of families belonged to middle (66.4%, n=140) and lower (27%, n=57) socioeconomic class. The mean cost of medicines and disposable was PKR 78378.2 +- 8845.9 (US$ 933.1 +- 105.3) in open heart surgery, PKR 12581 +- 7010.8 (US$ 149.8 +- 83.5) in closed heart surgery and PKR 69091 + 60906 in angiographic interventions. In 63.1% patients, families contributed towards these costs either completely (12.3%) or partly (50.8%) with significant contribution from the hospital. Adverse effect on families ranged from leave without pay to losing jobs or business (46%), and selling their assets (11.3%). It also affected schooling and health of siblings (22.7% and 26.1% respectively). Conclusion: Majority of children with congenital heart disease belonged to middle and lower socioeconomic status in this study. Main definitive treatment was surgery. The cost of health care facilities posed a marked socioeconomic burden on those families. (author)

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

    Directory of Open Access Journals (Sweden)

    I.G. Lebid

    2016-05-01

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

  20. The dilemmas of parents of adolescents and young adults with congenital heart disease.

    Science.gov (United States)

    Sparacino, P S; Tong, E M; Messias, D K; Foote, D; Chesla, C A; Gilliss, C L

    1997-01-01

    To provide a better understanding of parents' experiences as their children with congenital heart disease mature through adolescence and young adulthood. A qualitative pilot study. The physician practices of the pediatric cardiology service of a large university medical center. Eight parents of adolescents and young adults with congenital heart disease. Each parent was separately interviewed with use of a semistructured interview guide. Our study has identified seven themes--the dilemmas of normality, disclosure dilemmas, the challenge of uncertainty, illness management dilemmas and strategies, social integration versus social isolation, the impact of illness on the family, and coping--with which parents have struggled through-out their adolescent's and young adult's life. It was not possible to determine whether the experiences described by these parents are unique. Parents experience distress, as outlined in the seven themes. They need assistance to determine what is "normal" for their child and how to monitor their child's health and safety. Further research is needed to develop specific interventions.

  1. Magnetic resonance imaging of complex congenital heart disease in aduits; Magnetresonanztomographie komplexer kongenitaler Herzerkrankungen beim Erwachsenen

    Energy Technology Data Exchange (ETDEWEB)

    Bremerich, J. [San Francisco Univ, CA (United States). Dept. of Radiology]|[Universitaetsklinik Basel (Switzerland). Abt. fuer Medizinische Radiologie; Wyttenbach, R.; Higgins, C.B. [San Francisco Univ, CA (United States). Dept. of Radiology; Buser, P. [Universitaetsklinik Basel (Switzerland). Abt. fuer Kardiologie; Steinbrich, W. [Universitaetsklinik Basel (Switzerland). Abt. fuer Medizinische Radiologie

    1999-04-01

    An increasing number of patients with complex congenital heart disease reaches adulthood, because treatment and patient outcome have improved considerably in recent years. Monitoring of these patients requires both definition of cardiac anatomy and assessment of function with good reproducibility. Complications after surgical repair such as restenoses of pulmonary arteries after surgical repair of Tetralogy of Fallot, ventricular hypertrophy, stenoses or leakage of baffles, or stenosis and aneurysms of anastomoses have to be detected at an early stage. Magnetic Resonance Imaging (MRI) is an excellent tool to monitor these patients because of its noninvasive nature, its good interstudy and interobserver reproducibility, and because it allows assessment of both cardiac anatomy and function. This paper reviews the current applications of MRI in complex congenital heart disease in adults. (orig.) [Deutsch] Durch Verbesserungen in der Diagnose und Therapie komplexer kongenitaler Herzerkrankungen kann eine zunehmende Anzahl von betroffenen Patienten das Erwachsenenalter erreichen. Diese Patienten benoetigen regelmaessige postoperative Verlaufskontrollen, um Komplikationen wie z.B. Restenosen der grossen Arterien, Stenosen, Lecks und Aneurysmata von Anastomosen, Ventrikelhypertrophie und -dilatation oder Klappendysfunktionen fruehzeitig zu erkennen und zu behandeln. Fuer nichtinvasive regelmaessige Verlaufskontrollen bietet sich die Magnetresonanztomographie (MRT) des Herzens an, da sie eine umfassende Untersuchung sowohl der Morphologie als auch der Funktion des Herzens mit guter Reproduzierbarkeit erlaubt. Die gegenwaertigen klinischen Anwendungen der MRT bei komplexen kongenitalen Herzerkrankungen beim Erwachsenen werden in dieser Uebersicht beschrieben. (orig.)

  2. [Pathologic markers for evaluation of reversibility in pulmonary hypertension related to congenital heart disease].

    Science.gov (United States)

    Li, Li; Huang, Li; Chen, Guo; Huang, Shian; Liu, Chao; Wang, Hongyue; Duan, Xuejin; Wang, Qingzhi; Zhao, Ranxu; He, Jianguo

    2016-01-01

    To assess the pathologic markers for evaluation of reversibility in pulmonary hypertension (PAH) related to congenital heart disease. Twenty-eight patients with congenital heart disease complicated by PAH were subclassified into reversible pulmonary hypertension (RPAH) and irreversible pulmonary hypertension (IPAH), according to post-operative mean pulmonary artery pressure (MPAP). Pulmonary vascular lesion was analyzed according to Ruan's method. Mean medium thickness percent, mean medium area percent and pulmonary arteriolar density were measured by quantitative morphometry. Immunohistochemical study for transgelin and filamin A was carried out. Amongst the 28 cases studied, 24 were RPAH and 4 were IPAH. Of the 24 patients with RPAH, 13 (54.2%, 13/24) had pulmonary vascular lesion of grade 0, 9 (37.5%, 9/24) of grade 1 and 2 (8.3%, 2/24) of grade 2. Of the 4 patients with IPAH, 1 had lesion of grade 1, 1 of grade 2 and 2 of grade 3. Both preoperative and postoperative MPAP were higher in IPAH patients than that in RPAH patients[(53.3±23.4) mmHg versus (34.1±12.7) mmHg, P=0.020 and (35.0±8.8) mmHg versus (17.8±3.9) mmHg, Pheart disease. Mean medium thickness percent, mean medium area percent and immunoreactivity for transgelin and filamin A are useful parameters.

  3. 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.

  4. Surgical management of congenital heart disease: correlation between hospital costs and the Aristotle complexity score.

    Science.gov (United States)

    Sinzobahamvya, N; Kopp, T; Photiadis, J; Arenz, C; Schindler, E; Haun, C; Hraska, V; Asfour, B

    2010-09-01

    Hospital costs are expected to correlate with clinical complexity. Do costs for congenital heart surgery correlate with Aristotle complexity scores? 442 inpatient stays in 2008 were evaluated. Aristotle scores and levels were determined. Costs were estimated according to the German Institute for Hospital Reimbursement system. Pearson and Spearman R correlation coefficients and corresponding goodness-of-fit regression coefficients R2 were calculated. Mean basic and comprehensive Aristotle scores were 7.60 +/- 2.74 and 9.23 +/- 2.94 points, respectively. Mean expenses per hospital stay amounted to 29,369 +/- 30,823 Euros. Aristotle basic and comprehensive scores and levels were positively correlated with hospital costs. With a Spearman R of 1 and related R2 of 0.9436, scores of the 6 Aristotle comprehensive levels correlated best. Mean hospital reimbursement was 26,412 +/- 17,962 Euros. Compensation was higher than expenses for patients in comprehensive levels 1 to 3, but much lower for those in levels 4 to 6. Aristotle comprehensive complexity scores were highly correlated with hospital costs. The Aristotle score could be used as a scale to establish the correct reimbursement after congenital heart surgery. Georg Thieme Verlag KG Stuttgart, New York.

  5. Aristotle score predicts outcome in patients requiring extracorporeal circulatory support following repair of congenital heart disease.

    Science.gov (United States)

    Derby, Christopher D; Kolcz, Jacek; Kerins, Paul J; Duncan, Daniel R; Quezada, Emilio; Pizarro, Christian

    2007-01-01

    Extracorporeal membrane oxygenation (ECMO) has become the standard technique of mechanical support for the failing circulation following repair of congenital heart lesions. The objective of this study was to identify predictors of survival in patients requiring postcardiotomy ECMO. The Aristotle score, a method developed to evaluate quality of care based on complexity, was investigated as a potential predictor of outcome. Between 2003 and 2005, 37 patients required ECMO following corrective surgery for congenital heart disease. Records were reviewed retrospectively with emphasis on factors affecting survival to discharge. The comprehensive Aristotle complexity score was calculated for each patient. Overall, 28 patients (76%) survived to decannulation and 17 patients (46%) survived to discharge. There were 24 (65%) neonates and 10 patients (27%) with single ventricle physiology, with a hospital survival of 42% (10 of 24) and 50% (5 of 10), respectively. Univariate factors associated with survival included Aristotle score, duration of support, reexploration, multiple organ failure, and number of complications. Age, weight, and single-ventricle physiology were not significant. In a logistic regression model, an Aristotle score Aristotle score is predictive of outcome in patients requiring postcardiotomy ECMO and may serve as a uniform criterion when comparing and evaluating quality of care and performance in this complex patient population.

  6. Aid decision algorithms to estimate the risk in congenital heart surgery.

    Science.gov (United States)

    Ruiz-Fernández, Daniel; Monsalve Torra, Ana; Soriano-Payá, Antonio; Marín-Alonso, Oscar; Triana Palencia, Eddy

    2016-04-01

    In this paper, we have tested the suitability of using different artificial intelligence-based algorithms for decision support when classifying the risk of congenital heart surgery. In this sense, classification of those surgical risks provides enormous benefits as the a priori estimation of surgical outcomes depending on either the type of disease or the type of repair, and other elements that influence the final result. This preventive estimation may help to avoid future complications, or even death. We have evaluated four machine learning algorithms to achieve our objective: multilayer perceptron, self-organizing map, radial basis function networks and decision trees. The architectures implemented have the aim of classifying among three types of surgical risk: low complexity, medium complexity and high complexity. Accuracy outcomes achieved range between 80% and 99%, being the multilayer perceptron method the one that offered a higher hit ratio. According to the results, it is feasible to develop a clinical decision support system using the evaluated algorithms. Such system would help cardiology specialists, paediatricians and surgeons to forecast the level of risk related to a congenital heart disease surgery. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  7. Long-Term Outcome of Catheter-Related Arterial Thrombosis in Infants with Congenital Heart Disease.

    Science.gov (United States)

    Rizzi, Mattia; Kroiss, Sabine; Kretschmar, Oliver; Forster, Ishilde; Brotschi, Barbara; Albisetti, Manuela

    2016-03-01

    To investigate the long-term outcome of catheter-related arterial thrombosis in children. Data from clinical and radiologic long-term follow-up of infants with congenital heart disease developing arterial thrombosis following femoral catheterization are presented. Ninety-five infants with radiologically proven arterial thrombosis because of cardiac catheter (n = 52; 55%) or indwelling arterial catheter (n = 43; 45%) were followed for a median time of 23.5 months (IQR 13.3-47.3). Overall, radiologic complete thrombus resolution was observed in 64 (67%), partial resolution in 8 (9%), and no resolution in 23 (24%) infants. Complete resolution was significantly more frequent in infants with indwelling arterial catheter-related thrombosis compared with cardiac catheter-related thrombosis (P = .001). Patients with complete resolution had a significantly lower blood pressure difference and increased ankle-ankle index compared with patients with partial or no resolution (P < .0001). However, symptoms of claudication were present only in 1 case and clinical significant legs growth retardation (≥ 15 mm) was present in 1%. A significant percentage of persistent occlusion is present in children with arterial catheter-related thrombosis on long-term follow-up. In these children, the magnitude of leg growth retardation is small and possibly not clinically relevant. However, in children with congenital heart disease, the high prevalence of persistent arterial occlusion may hamper future diagnostic and/or interventional catheterization. Copyright © 2016 Elsevier Inc. All rights reserved.

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

    International Nuclear Information System (INIS)

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

    2009-01-01

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

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

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    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.

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

    International Nuclear Information System (INIS)

    Lee, Jongmin J.; Kang, Duk-Sik

    2001-01-01

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

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

    International Nuclear Information System (INIS)

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

    2015-01-01

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

  12. Complete Congenital Heart Block in a Newborn Associated with Maternal Systemic Lupus Erythematosus: A Case Report

    Directory of Open Access Journals (Sweden)

    Mahmoud A. Kiblawi

    2013-12-01

    Full Text Available Background: Complete Congenital Heart Block (CCHB is a rare disease of the newborn that carries significant morbidity and mortality. CCHB can be diagnosed early or late in life. In newborns, it is usually associated with maternal autoantibodies or a congenital cardiac structural abnormality. The most common presentation of CCHB is bradycardia that can be diagnosed by an electrocardiogram. Results: This is a case report of a male infant born to a mother with an autoimmune disease, Systemic Lupus Erythematosus (SLE, who was found to have third degree heart block at birth. Conclusion: Early diagnosis and prompt management of the case is important for a better prognosis and prevention of associated complications. Neonates with CCHB should be managed at a tertiary care center and the only definite treatment is insertion of a pacemaker. Moreover, prenatal diagnosis and specific obstetric counseling of pregnant women with SLE along with careful monitoring with serial ultrasonography and echocardiography are of paramount importance in prevention of the disease in subsequent offspring.

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

    Science.gov (United States)

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

    2015-10-05

    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. 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. 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. The database of fetal CHD successfully reproduced the anatomic structures and spatial relationship of different kinds of fetal CHD. This database can be widely used in

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

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    Noor Mohammad Noori

    2016-09-01

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

  15. Renal complications associated with the treatment of patients with congenital cardiac disease: consensus definitions from the Multi-Societal Database Committee for Pediatric and Congenital Heart Disease.

    Science.gov (United States)

    Welke, Karl F; Dearani, Joseph A; Ghanayem, Nancy S; Beland, Marie J; Shen, Irving; Ebels, Tjark

    2008-12-01

    A complication is an event or occurrence that is associated with a disease or a healthcare intervention, is a departure from the desired course of events, and may cause, or be associated with, suboptimal outcome. A complication does not necessarily represent a breech in the standard of care that constitutes medical negligence or medical malpractice. An operative or procedural complication is any complication, regardless of cause, occurring (1) within 30 days after surgery or intervention in or out of the hospital, or (2) after 30 days during the same hospitalization subsequent to the operation or intervention. Operative and procedural complications include both intraoperative/intraprocedural complications and postoperative/postprocedural complications in this time interval. The MultiSocietal Database Committee for Pediatric and Congenital Heart Disease has set forth a comprehensive list of complications associated with the treatment of patients with congenital cardiac disease, related to cardiac, pulmonary, renal, haematological, infectious, neurological, gastrointestinal, and endocrinal systems, as well as those related to the management of anaesthesia and perfusion, and the transplantation of thoracic organs. The objective of this manuscript is to examine the definitions of operative morbidity as they relate specifically to the renal system. These specific definitions and terms will be used to track morbidity associated with surgical and transcatheter interventions and other forms of therapy in a common language across many separate databases. Although renal dysfunction and renal failure are known risks of congenital heart surgery, accurate estimates of the incidences of these complications are limited. This lack of knowledge is in part due to the lack of uniform definitions of these postoperative complications. The purpose of this effort is to propose consensus definitions for renal complications following congenital cardiac surgery so that collection of such

  16. Regional differences in right versus left congenital heart disease diagnoses in neonates in the United States.

    Science.gov (United States)

    Nelson, Jennifer S; Strassle, Paula D

    2018-03-01

    Differences in the prevalence of left and right congenital heart defects (CHD) across the United States are unclear. This study evaluated the overall prevalence and the distribution of right versus left CHD across US regions and divisions in neonates. Newborns born from 2000 to 2014 diagnosed with CHD were identified using the National Inpatient Sample. Heart defects were stratified into right, left, and "neither" subtypes. The risk of right and left heart diagnoses between US Census regions and divisions was compared using multivariable binomial regression, adjusting for infant, and hospital characteristics. Two hundred forty thousand four hundred fifty-five newborns were included and 38,185 (15.9%) were classifiable as having either right or left subtypes. Between 2000 and 2014, the prevalence of right defects increased from 1.65 to 2.88 cases/1,000 live born infants (p right heart defect diagnosis compared to the West. When stratified by division, New England states had a significantly higher prevalence of right defects compared to the Pacific (RD adj .09, 95% CI .06, 0.11). No differences in the prevalence of left defects were seen. The prevalence of CHD diagnoses at birth in the US has increased, and regional differences in the prevalence of right defects appear to exist. © 2017 Wiley Periodicals, Inc.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2009-10-15

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

  18. Abnormal lung function in adults with congenital heart disease: prevalence, relation to cardiac anatomy, and association with survival.

    Science.gov (United States)

    Alonso-Gonzalez, Rafael; Borgia, Francesco; Diller, Gerhard-Paul; Inuzuka, Ryo; Kempny, Aleksander; Martinez-Naharro, Ana; Tutarel, Oktay; Marino, Philip; Wustmann, Kerstin; Charalambides, Menelaos; Silva, Margarida; Swan, Lorna; Dimopoulos, Konstantinos; Gatzoulis, Michael A

    2013-02-26

    Restrictive lung defects are associated with higher mortality in patients with acquired chronic heart failure. We investigated the prevalence of abnormal lung function, its relation to severity of underlying cardiac defect, its surgical history, and its impact on outcome across the spectrum of adult congenital heart disease. A total of 1188 patients with adult congenital heart disease (age, 33.1±13.1 years) undergoing lung function testing between 2000 and 2009 were included. Patients were classified according to the severity of lung dysfunction based on predicted values of forced vital capacity. Lung function was normal in 53% of patients with adult congenital heart disease, mildly impaired in 17%, and moderately to severely impaired in the remainder (30%). Moderate to severe impairment of lung function related to complexity of underlying cardiac defect, enlarged cardiothoracic ratio, previous thoracotomy/ies, body mass index, scoliosis, and diaphragm palsy. Over a median follow-up period of 6.7 years, 106 patients died. Moderate to severe impairment of lung function was an independent predictor of survival in this cohort. Patients with reduced force vital capacity of at least moderate severity had a 1.6-fold increased risk of death compared with patients with normal lung function (P=0.04). A reduced forced vital capacity is prevalent in patients with adult congenital heart disease; its severity relates to the complexity of the underlying heart defect, surgical history, and scoliosis. Moderate to severe impairment of lung function is an independent predictor of mortality in contemporary patients with adult congenital heart disease.

  19. NT-proBNP and exercise capacity in adult patients with congenital heart disease and a prosthetic valve : a multicentre PROSTAVA study

    NARCIS (Netherlands)

    Schoonbeek, R C; Pieper, P. G.; van Slooten, Y. J.; Freling, Hendrik G.; Sieswerda, G. T.; van Dijk, A. P. J.; Jongbloed, M. R. M.; Post, M. C.; Bouma, B. J.; Berger, R. M. F.; Ebels, T.; van Melle, J. P.

    2016-01-01

    Objectives N-terminal B-type natriuretic peptide (NT-proBNP) is an important biomarker for the detection of heart failure. Adults with congenital heart disease (ACHD) and a prosthetic heart valve are at risk for heart failure. This study aimed to determine the value of NT-proBNP in ACHD patients

  20. NT-proBNP and exercise capacity in adult patients with congenital heart disease and a prosthetic valve: a multicentre PROSTAVA study

    NARCIS (Netherlands)

    Schoonbeek, R. C.; Pieper, P. G.; van Slooten, Y. J.; Freling, H. G.; Sieswerda, G. T.; van Dijk, A. P. J.; Jongbloed, M. R. M.; Post, M. C.; Bouma, B. J.; Berger, R. M. F.; Ebels, T.; van Melle, J. P.

    2016-01-01

    N-terminal B‑type natriuretic peptide (NT-proBNP) is an important biomarker for the detection of heart failure. Adults with congenital heart disease (ACHD) and a prosthetic heart valve are at risk for heart failure. This study aimed to determine the value of NT-proBNP in ACHD patients with a

  1. 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.

  2. High postoperative serum levels of surfactant type B as novel prognostic markers for congenital heart surgery

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    Onur Is?k

    2014-04-01

    Full Text Available Objective: Congenital heart diseases are observed in 5 to 8 of every 1000 live births. The presence of a valuable biomarker during the surgical periods may aid the clinician in a more accurate prognosis during treatment. Methods: For this reason, surfactant protein B plasma levels may help to evaluate patients with cardiac problems diminishing the alveolocapillary membrane stability. In this study, plasma levels of this biomarker were measured in the preoperative and postoperative periods. This study was conducted to detect the differences between pulmonary hypertensive and normotensive patients. The differences before and after cardiopulmonary bypass were examined. Results: The differences in cardiopulmonary bypass time, cross-clamp time , inotropic support dose, and duration of intensive care of patients with and without pulmonary hypertensive were found to be statistically significant (P<0.05. The results revealed that this pathophysiological state was related to other variables that were studied. We believe that the differences in preoperative and postoperative SPB levels could be attributed to alveolocapillary membrane damage and alveolar surfactant dysfunction. We found that this pathophysiological condition was significantly associated with postoperative parameters. Conclusion: The findings of the current study showed that surfactant protein B was present in the blood of patients with a congenital heart disease during the preoperative period. Long by-pass times may exert damage to the alveolocapillary membrane in patients with pulmonary hypertension and preoperative heart failure, and it is recommended to keep the option of surfactant therapy in mind during the postoperative course at the intensive care unit before preparing the patients for extubation.

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

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    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.

  4. The care of adults with congenital heart disease across the globe : Current assessment and future perspective A position statement from the International Society for Adult Congenital Heart Disease (ISACHD)

    NARCIS (Netherlands)

    Webb, Gary; Mulder, Barbara J.; Aboulhosn, Jamil; Daniels, Curt J.; Elizari, Maria Amalia; Hong, Gu; Horlick, Eric; Landzberg, Michael J.; Marelli, Ariane J.; O'Donnell, Clare P.; Oechslin, Erwin N.; Pearson, Dorothy D.; Pieper, Els P. G.; Saxena, Anita; Schwerzmann, Markus; Stout, Karen K.; Warnes, Carole A.; Khairy, Paul

    2015-01-01

    The number of adults with congenital heart disease (CHD) has increased markedly over the past few decades as a result of astounding successes in pediatric cardiac care. Nevertheless, it is now well understood that CHD is not cured but palliated, such that life-long expert care is required to

  5. Type 2 diabetes mellitus induces congenital heart defects in murine embryos by increasing oxidative stress, endoplasmic reticulum stress, and apoptosis.

    Science.gov (United States)

    Wu, Yanqing; Reece, E Albert; Zhong, Jianxiang; Dong, Daoyin; Shen, Wei-Bin; Harman, Christopher R; Yang, Peixin

    2016-09-01

    Maternal type 1 and 2 diabetes mellitus are strongly associated with high rates of severe structural birth defects, including congenital heart defects. Studies in type 1 diabetic embryopathy animal models have demonstrated that cellular stress-induced apoptosis mediates the teratogenicity of maternal diabetes leading to congenital heart defect formation. However, the mechanisms underlying maternal type 2 diabetes mellitus-induced congenital heart defects remain largely unknown. We aim to determine whether oxidative stress, endoplasmic reticulum stress, and excessive apoptosis are the intracellular molecular mechanisms underlying maternal type 2 diabetes mellitus-induced congenital heart defects. A mouse model of maternal type 2 diabetes mellitus was established by feeding female mice a high-fat diet (60% fat). After 15 weeks on the high-fat diet, the mice showed characteristics of maternal type 2 diabetes mellitus. Control dams were either fed a normal diet (10% fat) or the high-fat diet during pregnancy only. Female mice from the high-fat diet group and the 2 control groups were mated with male mice that were fed a normal diet. At E12.5, embryonic hearts were harvested to determine the levels of lipid peroxides and superoxide, endoplasmic reticulum stress markers, cleaved caspase 3 and 8, and apoptosis. E17.5 embryonic hearts were harvested for the detection of congenital heart defect formation using India ink vessel patterning and histological examination. Maternal type 2 diabetes mellitus significantly induced ventricular septal defects and persistent truncus arteriosus in the developing heart, along with increasing oxidative stress markers, including superoxide and lipid peroxidation; endoplasmic reticulum stress markers, including protein levels of phosphorylated-protein kinase RNA-like endoplasmic reticulum kinase, phosphorylated-IRE1α, phosphorylated-eIF2α, C/EBP homologous protein, and binding immunoglobulin protein; endoplasmic reticulum chaperone gene

  6. The role of 3D printing in preoperative planning for heart transplantation in complex congenital heart disease.

    Science.gov (United States)

    Smith, M L; McGuinness, J; O'Reilly, M K; Nolke, L; Murray, J G; Jones, J F X

    2017-08-01

    The presence of a structural cardiac defect in the setting of dextrocardia is extremely rare. Graspable models allow enhanced appreciation of aberrant structures and vascular relations, particularly in rare and complex cases. This is the first case report of the use of a replica of a patients' anatomy to plan the surgical strategy in the setting of dextrocardia. We intend to demonstrate the benefit of three-dimensional printing to enhance preoperative planning in complex congenital heart disease undergoing heart transplantation. The anomalous structures encountered include situs inversus dextrocardia, transposition of the great vessels, a single atrium and a dilated double-outlet single right ventricle. Computed Tomography acquisition was performed with the use of ECG multiphase gating technology and contrast enhancement. The structures of interest were segmented and the generated 3D mesh was exported as a stereolithographic (STL) file. The model was printed on a Z-Corp 250 binder jetting printer. Post processing techniques were used to enhance model strength. Pre-operative 3D visualisation of the patients' anatomy allowed for a more comprehensive surgical strategy to be planned, thus reducing the intra-operative duration and cross-clamp time which are recognised to correlate with reduced patient morbidity. The ongoing advances in medical image procurement and 3D processing software and printing technology will continue to enhance preoperative planning and thereby improve patient care. We demonstrate the pivotal role played by such technologies in advancing spatial comprehension of complex aberrant anatomy.

  7. Brain Injury in Neonates with Complex Congenital Heart Disease: What Is the Predictive Value of MRI in the Fetal Period?

    Science.gov (United States)

    Brossard-Racine, M; du Plessis, A; Vezina, G; Robertson, R; Donofrio, M; Tworetzky, W; Limperopoulos, C

    2016-07-01

    Brain injury in neonates with congenital heart disease is an important predictor of adverse neurodevelopmental outcome. Impaired brain development in congenital heart disease may have a prenatal origin, but the sensitivity and specificity of fetal brain MR imaging for predicting neonatal brain lesions are currently unknown. We sought to determine the value of conventional fetal MR imaging for predicting abnormal findings on neonatal preoperative MR imaging in neonates with complex congenital heart disease. MR imaging studies were performed in 103 fetuses with confirmed congenital heart disease (mean gestational age, 31.57 ± 3.86 weeks) and were repeated postnatally before cardiac surgery (mean age, 6.8 ± 12.2 days). Each MR imaging study was read by a pediatric neuroradiologist. Brain abnormalities were detected in 17/103 (16%) fetuses by fetal MR imaging and in 33/103 (32%) neonates by neonatal MR imaging. Only 9/33 studies with abnormal neonatal findings were preceded by abnormal findings on fetal MR imaging. The sensitivity and specificity of conventional fetal brain MR imaging for predicting neonatal brain abnormalities were 27% and 89%, respectively. Brain abnormalities detected by in utero MR imaging in fetuses with congenital heart disease are associated with higher risk of postnatal preoperative brain injury. However, a substantial proportion of anomalies on postnatal MR imaging were not present on fetal MR imaging; this result is likely due to the limitations of conventional fetal MR imaging and the emergence of new lesions that occurred after the fetal studies. Postnatal brain MR imaging studies are needed to confirm the presence of injury before open heart surgery. © 2016 by American Journal of Neuroradiology.

  8. Over-expression of DSCAM and COL6A2 cooperatively generates congenital heart defects.

    Directory of Open Access Journals (Sweden)

    Tamar R Grossman

    2011-11-01

    Full Text Available A significant current challenge in human genetics is the identification of interacting genetic loci mediating complex polygenic disorders. One of the best characterized polygenic diseases is Down syndrome (DS, which results from an extra copy of part or all of chromosome 21. A short interval near the distal tip of chromosome 21 contributes to congenital heart defects (CHD, and a variety of indirect genetic evidence suggests that multiple candidate genes in this region may contribute to this phenotype. We devised a tiered genetic approach to identify interacting CHD candidate genes. We first used the well vetted Drosophila heart as an assay to identify interacting CHD candidate genes by expressing them alone and in all possible pairwise combinations and testing for effects on rhythmicity or heart failure following stress. This comprehensive analysis identified DSCAM and COL6A2 as the most strongly interacting pair of genes. We then over-expressed these two genes alone or in combination in the mouse heart. While over-expression of either gene alone did not affect viability and had little or no effect on heart physiology or morphology, co-expression of the two genes resulted in ≈50% mortality and severe physiological and morphological defects, including atrial septal defects and cardiac hypertrophy. Cooperative interactions between DSCAM and COL6A2 were also observed in the H9C2 cardiac cell line and transcriptional analysis of this interaction points to genes involved in adhesion and cardiac hypertrophy. Our success in defining a cooperative interaction between DSCAM and COL6A2 suggests that the multi-tiered genetic approach we have taken involving human mapping data, comprehensive combinatorial screening in Drosophila, and validation in vivo in mice and in mammalian cells lines should be applicable to identifying specific loci mediating a broad variety of other polygenic disorders.

  9. Adult patients with pulmonary arterial hypertension due to congenital heart disease: a review on advanced medical treatment with bosentan

    NARCIS (Netherlands)

    Schuuring, Mark J.; Vis, Jeroen C.; Duffels, Marielle G.; Bouma, Berto J.; Mulder, Barbara J. M.

    2010-01-01

    Pulmonary arterial hypertension (PAH) is a progressive disease with poor survival outcome. PAH is classified by the 2009 updated clinical classification of pulmonary hypertension and a major subgroup is PAH due to congenital heart disease (CHD) with systemic-to-pulmonary shunt. CHD-PAH is a result

  10. First-trimester measurement of the ductus venosus pulsatility index and the prediction of congenital heart defects

    NARCIS (Netherlands)

    Timmerman, E.; Clur, S. A.; Pajkrt, E.; Bilardo, C. M.

    2010-01-01

    Objective This study was carried out to evaluate the additional predictive value of ductus venosus pulsatility index for veins (DV-PIV) in the identification of congenital heart defects (CHDs) in fetuses with an enlarged nuchal translucency (NT) and a normal karyotype. Methods All chromosomally

  11. Maternal intake of fat, riboflavin and nicotinamide and the risk of having offspring with congenital heart defects

    NARCIS (Netherlands)

    Smedts, H.P.M.; Rakhshandehroo, M.; Verkleij-Hagoort, A.C.; Vries, de J.H.M.; Ottenkamp, J.; Steegers, E.A.P.; Steegers-Theunissen, R.P.M.

    2008-01-01

    With the exception of studies on folic acid, little evidence is available concerning other nutrients in the pathogenesis of congenital heart defects (CHDs). Fatty acids play a central role in embryonic development, and the B-vitamins riboflavin and nicotinamide are co-enzymes in lipid metabolism.

  12. Maternal intake of fat, riboflavin and nicotinamide and the risk of having offspring with congenital heart defects

    NARCIS (Netherlands)

    Smedts, Huberdina P. M.; Rakhshandehroo, Maryam; Verkleij-Hagoort, Anna C.; de Vries, Jeanne H. M.; Ottenkamp, Jaap; Steegers, Eric A. P.; Steegers-Theunissen, Régine P. M.

    2008-01-01

    BACKGROUND: With the exception of studies on folic acid, little evidence is available concerning other nutrients in the pathogenesis of congenital heart defects (CHDs). Fatty acids play a central role in embryonic development, and the B-vitamins riboflavin and nicotinamide are co-enzymes in lipid

  13. The value of the clinical geneticist caring for adults with congenital heart disease: diagnostic yield and patients' perspective

    NARCIS (Netherlands)

    van Engelen, Klaartje; Baars, Marieke J. H.; Felix, Joyce P.; Postma, Alex V.; Mulder, Barbara J. M.; Smets, Ellen M. A.

    2013-01-01

    For adult patients with congenital heart disease (CHD), knowledge about the origin and inheritance of their CHD is important. Clinical geneticists may play a significant role in their care. We explored the diagnostic yield of clinical genetic consultation of adult CHD patients, patients' motivations

  14. Prenatal detection of congenital heart disease in a low risk population undergoing first and second trimester screening

    DEFF Research Database (Denmark)

    Jørgensen, Ditte E S; Vejlstrup, Niels; Jørgensen, Connie

    2015-01-01

    OBJECTIVES: The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark. METHODS: Fetuses and infants diagnosed with CHD in the period 01.01.2008-31.12.2010 were assessed...

  15. "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…

  16. Associations between exercise capacity, physical activity, and psychosocial functioning in children with congenital heart disease: a systematic review

    NARCIS (Netherlands)

    Dulfer, Karolijn; Helbing, Willem A.; Duppen, Nienke; Utens, Elisabeth M. W. J.

    2014-01-01

    Children and adolescents operated upon for congenital heart disease (ConHD) may show reduced exercise capacity and physical activity, possibly associated with lowered self-esteem and quality of life (QoL). The studies into associations between these parameters have not been reviewed before. Review

  17. Brown fat necrosis in the setting of congenital heart disease and prostaglandin E1 use: a case report

    International Nuclear Information System (INIS)

    Raboi, C.A.; Smith, W.

    1999-01-01

    We report a case of a child with D-transposition of the great arteries treated with prostaglandin E1 (PGE1) who subsequently developed extensive brown fat necrosis. To the best of our knowledge, no previous association among congenital heart disease, PGE1, and brown fat necrosis has been reported

  18. Brown fat necrosis in the setting of congenital heart disease and prostaglandin E1 use: a case report

    Energy Technology Data Exchange (ETDEWEB)

    Raboi, C.A.; Smith, W. [Iowa Univ., Iowa City, IA (United States). Dept. of Radiology; 2

    1999-01-01

    We report a case of a child with D-transposition of the great arteries treated with prostaglandin E1 (PGE1) who subsequently developed extensive brown fat necroisis. To the best of our knowledge, no previous association among congenital heart diseace, PGE1, and brwon fat necrosis has been reported.

  19. Life and Death of a Child with Down Syndrome and a Congenital Heart Condition: Experiences of Six Couples

    Science.gov (United States)

    Reilly, Deirdre; Huws, Jaci; Hastings, Richard; Vaughan, Frances

    2010-01-01

    Individuals with Down syndrome are at increased risk of congenital heart conditions (CHCs), and mortality is higher in people with Down syndrome and a CHC than those without (J. C. Vis et al., 2009). As a consequence, parents of children with Down syndrome and a CHC are more likely to outlive their child. In this research, semistructured…

  20. Health related quality of life and health status in adult survivors with previously operated complex congenital heart disease

    NARCIS (Netherlands)

    Kamphuis, M.; Ottenkamp, J.; Vliegen, H. W.; Vogels, T.; Zwinderman, K. H.; Kamphuis, R. P.; Verloove-Vanhorick, S. P.

    2002-01-01

    To examine the impact of previously operated complex congenital heart disease on health related quality of life and subjective health status and to determine the relation between these parameters and physical status. Cross sectional; information on medical follow up was sought retrospectively.

  1. Early pregnancy exposure to antihistamines and risk of congenital heart defects : results of two case-control studies

    NARCIS (Netherlands)

    Smedts, Huberdina P. M.; de Jonge, Linda; Bandola, Sarah J. G.; Baardman, Marlies E.; Bakker, Marian K.; Stricker, Bruno H. C.; Steegers-Theunissen, Regine P. M.

    UNLABELLED: We aimed to study the association between use of antihistamines in early pregnancy and congenital heart defects (CHD) in the offspring. DESIGN: Two case-control studies. SETTING: HAVEN study, Erasmus MC, University Medical Centre, Rotterdam, and Eurocat Northern Netherlands (NNL),

  2. Outcomes of Tracheostomy in Children Requiring Surgery for Congenital Heart Disease.

    Science.gov (United States)

    Ortmann, Laura A; Manimtim, Winston M; Lachica, Charisse I

    2017-02-01

    Outcomes after discharge in children requiring tracheostomy after cardiac surgery have not been fully described. A retrospective, single-center study was performed on all children tracheostomy and surgery for congenital heart disease from January 2002 to May 2015. Forty-six tracheostomies were placed after surgery and four before. Single-ventricle anatomy was present in 12 (33%) patients. Incidence of tracheostomy after heart surgery increased from 0.8% the first half of the study period to 2% the second half. Median time between cardiac surgery and tracheostomy was 58 days. The most common indication for tracheostomy was multifactorial (30%) followed by airway malacia (22%). Median length to follow-up for survivors was 3.9 years (range 0.4-11.8 years). Survival to hospital discharge was 72%, and intermediate survival was 48%. Survival in those with systemic to pulmonary artery shunts at the time of tracheostomy was 22% compared to 59% for those with biventricular anatomy. Heart failure and multiple indications for tracheostomy were associated with worse outcome. There was no difference in survival for those discharged with a ventilator compared to those that were not. The most common cause of death after discharge was tracheostomy tube dislodgement/obstruction, accounting for 5 of 11 that died. Survival with a tracheostomy after cardiac surgery is poor, and children with systemic to pulmonary artery shunts are at especially high risk of death.

  3. Multidetector CT for congenital heart patients: what a paediatric radiologist should know

    Energy Technology Data Exchange (ETDEWEB)

    Paul, Jean-Francois; Rohnean, Adela; Sigal-Cinqualbre, Anne [Radiology Unit, Marie Lannelongue Hospital, Plessis-Robinson (France)

    2010-06-15

    Multidetector CT (MDCT) is increasingly used for imaging congenital heart disease (CHD) patients in addition to echocardiography, due to its ability to provide high quality three-dimensional images, giving a comprehensive evaluation of complex heart malformations. Using 4-slice or 16-slice CT, diagnostic information in CHD patients is limited to extra-cardiac anatomy, mainly the pulmonary arteries, aorta and venous connections. Due to high heart rates in babies however, coronary evaluation and intra-cardiac analysis were not reliable with the first generations of MDCT. Larger detector size with 64-slice CT and faster acquisition time, up to 75 ms for one slice, has progressively improved coronary and intra-cardiac visualization. Because radiation dose is the main concern, especially in children, every attempt to minimize dose whilst preserving image quality is important: the ALARA concept should always be applied in this population. The 80 kVp setting is now well accepted as a standard for more and more radiological teams involved in CT of children. Different acquisition strategies are now possible for childhood coronary imaging, using retrospective or even prospective gating. Using the latest technology, sub-mSv acquisitions are now attainable for scanning a whole thorax, providing a complete analysis of any 3-D cardiac malformation, including coronary artery course visualisation. This review will describe how technological developments have improved image quality with continuous reduction of radiation dose. (orig.)

  4. The influence of congenital heart disease on psychological conditions in adolescents and adults after corrective surgery.

    Science.gov (United States)

    Norozi, Kambiz; Zoege, Monika; Buchhorn, Reiner; Wessel, Armin; Geyer, Siegfried

    2006-11-01

    The present study was designed to examine psychological characteristics of adolescents and adults with operated congenital heart disease (ACHD). Particularly it was to be examined whether cardiological parameters may be associated with subjectively perceived impairments and measures of psychological distress. A total of 361 men (209) and women (152) between 14 and 45 years underwent medical checkups and an interview on psychological and sociological issues. The medical part consisted of a complete cardiological examination including the classification of residual symptoms according to the New York Heart Association (NYHA), and spiroergometry. The Brief Symptom Inventory was used for depicting current psychological and somatic symptoms. These were assessed on 9 subscales: somatization, obsession-compulsion, interpersonal sensitivity, depression, anxiety, hostility, phobic anxiety, paranoid ideation, and psychoticism. The analyses revealed statistically significant associations between the degree of NYHA class and psychological symptoms. These findings could not be reproduced for physical fitness as measured by peak oxygen consumption. No gender differences emerged. Our results suggest that psychological measures of ACHD are not directly dependent on their physical fitness or on the severity of residual symptoms. Instead, patients' subjective appraisal of their disease severity and the conviction to what degree one can depend on the operated heart may be important determinants of psychological states.

  5. Asplenia in children with congenital heart disease as a cause of poor outcome.

    Science.gov (United States)

    Erdem, Semiha Bahceci; Genel, Ferah; Erdur, Baris; Ozbek, Erhan; Gulez, Nesrin; Mese, Timur

    2015-01-01

    The absence of a spleen is a well-known risk factor for severe bacterial infections, especially due to encapsulated bacteria. Congenital asplenia can be part of multiple congenital abnormalities as in heterotaxy including Ivemark syndrome with congenital anomalies of the heart or great vessels, or it can be isolated, which is extremely rare. In these cases, asplenia is an important factor effecting mortality. In this report, the clinical courses of five children with asplenia and concomitant minor or complex cardiac anomalies are presented. The ages of the children ranged between 1.5 and 17 months at the time of diagnosis. All of the cases had had a history of hospitalisation for infectious diseases before the diagnosis. The patient who was diagnosed at 17 months old had a history pneumonia, urinary tract infection, and bacterial meningitis beginning at five months old. Three children had complex cardiac anomalies, one child had ventricular septal defect, and one child had atrial septal defect. Howell-Jolly bodies were determined in peripheral blood smear in all of the patients. The diagnoses of asplenia were confirmed with spleen scintigraphy. One of the patients with complex cardiac anomalies died a short time after diagnosis, because of cardiac failure. The rest of the four patients were vaccinated for encapsulated bacteria and were taken under antibiotic prophylaxis. These children did not need hospitalisation for infectious diseases during the follow-up period (5-40 months). In asplenic children, early diagnosis, antibiotic prophylaxis, and immunisation for encapsulated bacteria can decrease the risk of morbidity and mortality.

  6. Recent advances in cardiac catheterization for congenital heart disease [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Sok-Leng Kang

    2018-03-01

    Full Text Available The field of pediatric and adult congenital cardiac catheterization has evolved rapidly in recent years. This review will focus on some of the newer endovascular technological and management strategies now being applied in the pediatric interventional laboratory. Emerging imaging techniques such as three-dimensional (3D rotational angiography, multi-modal image fusion, 3D printing, and holographic imaging have the potential to enhance our understanding of complex congenital heart lesions for diagnostic or interventional purposes. While fluoroscopy and standard angiography remain procedural cornerstones, improved equipment design has allowed for effective radiation exposure reduction strategies. Innovations in device design and implantation techniques have enabled the application of percutaneous therapies in a wider range of patients, especially those with prohibitive surgical risk. For example, there is growing experience in transcatheter duct occlusion in symptomatic low-weight or premature infants and stent implantation into the right ventricular outflow tract or arterial duct in cyanotic neonates with duct-dependent pulmonary circulations. The application of percutaneous pulmonary valve implantation has been extended to a broader patient population with dysfunctional ‘native’ right ventricular outflow tracts and has spurred the development of novel techniques and devices to solve associated anatomic challenges. Finally, hybrid strategies, combining cardiosurgical and interventional approaches, have enhanced our capabilities to provide care for those with the most complex of lesions while optimizing efficacy and safety.

  7. Representativeness of the German National Register for Congenital Heart Defects: a clinically oriented analysis.

    Science.gov (United States)

    Helm, Paul C; Koerten, Marc-André; Abdul-Khaliq, Hashim; Baumgartner, Helmut; Kececioglu, Deniz; Bauer, Ulrike M M

    2016-06-01

    Approximately 6000 children are born with CHD in Germany each year. It is increasingly rare that these children die from their chronic illness. In the present study, data recorded in the National Register for Congenital Heart Defects with respect to the prevalence of specific lesions and sex distribution are compared with that recorded in a published German prevalence study (Prevalence Study) and with the meta-analysis by van der Linde et al. A descriptive data analysis was performed using a minimal data set. The demographic data included sex and birth year; the medical data comprised the cardiovascular diagnosis according to the short list of the International Paediatric and Congenital Cardiac Code. As the data analysis shows, the National Register is a clinical register including primarily clinical cases/cases relevant to healthcare. The prevalence values and sex ratios recorded in the register are closer to the values given in the literature than those determined by the Prevalence Study. Severe CHD was slightly over-represented in the National Register compared with the van der Linde et al meta-analysis. The deviations with respect to prevalence values are within an acceptable range. With its 48,000 patients, the National Register plays a unique and important role for research in the field of CHD. Samples from the National Register can be used as a gold standard for future studies, as the patient population registered in it can be considered representative of CHD in Germany and Europe.

  8. Current Surgical Outcomes of Congenital Heart Surgery for Patients With Down Syndrome in Japan.

    Science.gov (United States)

    Hoashi, Takaya; Hirahara, Norimichi; Murakami, Arata; Hirata, Yasutaka; Ichikawa, Hajime; Kobayashi, Junjiro; Takamoto, Shinichi

    2018-01-25

    Current surgical outcomes of congenital heart surgery for patients with Down syndrome are unclear.Methods and Results:Of 29,087 operations between 2008 and 2012 registered in the Japan Congenital Cardiovascular Surgery Database (JCCVSD), 2,651 were carried out for patients with Down syndrome (9%). Of those, 5 major biventricular repair procedures [ventricular septal defect repair (n=752), atrioventricular septal defect repair (n=452), patent ductus arteriosus closure (n=184), atrial septal defect repair (n=167), tetralogy of Fallot (TOF) repair (n=108)], as well as 2 major single ventricular palliations [bidirectional Glenn (n=21) and Fontan operation (n=25)] were selected and their outcomes were compared. The 90-day and in-hospital mortality rates for all 5 major biventricular repair procedures and bidirectional Glenn were similarly low in patients with Down syndrome compared with patients without Down syndrome. On the other hand, mortality after Fontan operation in patients with Down syndrome was significantly higher than in patients without Down syndrome (42/1,558=2.7% vs. 3/25=12.0%, P=0.005). Although intensive management of pulmonary hypertension is essential, analysis of the JCCVSD revealed favorable early prognostic outcomes after 5 major biventricular procedures and bidirectional Glenn in patients with Down syndrome. Indication of the Fontan operation for patients with Down syndrome should be carefully decided.

  9. [Analysis of microdeletions in 22q11 in Colombian patients with congenital heart disease].

    Science.gov (United States)

    Salazar, Marleny; Villalba, Guiovanny; Mateus, Heidi; Villegas, Victoria; Fonseca, Dora; Núñez, Federico; Caicedo, Víctor; Pachón, Sonia; Bernal, Jaime E

    2011-12-01

    Cardiac defects are the most frequent congenital malformations, with an incidence estimated between 4 and 12 per 1000 newborns. Their etiology is multifactorial and might be attributed to genetic predispositions and environmental factors. Since 1990 these types of pathologies have been associated with 22q11 microdeletion. In this study, the frequency of microdeletion 22q11 was determined in 61 patients with non-syndromic congenital heart disease. DNA was extracted from peripheral blood and TUPLE1 and STR D10S2198 genes were amplified by multiplex PCR and visualized in agarose gels. Gene content was quantified by densitometry. Three patients were found with microdeletion 22q11, representing a 4.9% frequency. This microdeletion was associated with two cases of Tetralogy of Fallot and a third case with atrial septal defect (ASD). In conclusion, the frequency for microdeletion 22q11 in the population analyzed was 4.9%. The cases that presented Teratology of Fallot had a frequency for this microdeletion of 7.4% and for ASD of 11.1%.

  10. 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.

  11. Evaluation of nutritional status and support in children with congenital heart disease.

    Science.gov (United States)

    Blasquez, A; Clouzeau, H; Fayon, M; Mouton, J-B; Thambo, J-B; Enaud, R; Lamireau, T

    2016-04-01

    The objective of this disease was to determine the prevalence of malnutrition in children with congenital heart disease (CHD). A total of 125 children with CHD, under 6 months of age, were divided into four groups: no pulmonary hypertension (PH) or cyanosis (group 1, n=47), isolated cyanosis (group 2, n=52), isolated PH (group 3, n=16), and PH and cyanosis (group 4, n=10). Six children died at 6 months (n=4), 12 months (n=1) and 19 months (n=1). The remaining children were followed-up for 24 months. Prevalence of moderate to severe malnutrition (weight/weight for height children of group 4 and rarely in other groups (group 1, 15.8%; group 2, 8.6% and group 3, 11.1%; Pchildren with CHD, and it is more frequent in case of PH. Half of these children demonstrate low caloric intake, whereas few have proper nutritional support.

  12. Self-efficacy and physical activity in children with congenital heart disease: is there a relationship?

    Science.gov (United States)

    Ray, Trenda D; Henry, Karen

    2011-04-01

    This study examined the relationship between self-efficacy and physical activity in 10- to 14-year-old children with congenital heart disease. Cross-sectional study using self-report instruments. In 84 participants, self-efficacy scores were similar to those published for healthy adolescents, 30.8 as compared with 29.4. Physical activity participation as prescribed by the Centers for Disease Control and Prevention was low (38%). Self-efficacy scores were moderately correlated with physical activity participation (r = .47; p physical activity in this high-risk group. Interventions that focus on self-efficacy may be particularly helpful given the link between self-efficacy and physical activity. © 2011, Wiley Periodicals, Inc.

  13. 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.

  14. Hemodynamic correction of univentricular congenital heart diseases: the role of additional sources of pulmonary blood flow

    Directory of Open Access Journals (Sweden)

    Ю. Н. Горбатых

    2015-10-01

    Full Text Available Analysis of the impact of additional sources of pulmonary blood flow on the outcomes of hemodynamic correction of univentricular congenital heart disease is presented. From 2003 to 2010 31 patients received a bidirectional cavopulmonary shunt (BCPS with/without preservation of additional pulmonary blood flow sources. The latter were preserved in 18 patients (1st group and eliminated in 13 patients (2nd group. Later on all patients had Fontan procedure. Our results showed no significant impact of additional pulmonary blood flow sources on the system ventricle function and systemic AV valve regurgitation. Preservation of adequate additional pulmonary blood flow during BCPS promotes pulmonary arterial growth and increases the degree of freedom from operative intervention, while optimizing hemodynamic features of Fontan-borderline patients.

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

    Science.gov (United States)

    Iacobazzi, D; Suleiman, M-S; Ghorbel, M; George, SJ; Caputo, M; Tulloh, RM

    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. PMID:26516182

  16. Loss of RNA expression and allele-specific expression associated with congenital heart disease

    Science.gov (United States)

    McKean, David M.; Homsy, Jason; Wakimoto, Hiroko; Patel, Neil; Gorham, Joshua; DePalma, Steven R.; Ware, James S.; Zaidi, Samir; Ma, Wenji; Patel, Nihir; Lifton, Richard P.; Chung, Wendy K.; Kim, Richard; Shen, Yufeng; Brueckner, Martina; Goldmuntz, Elizabeth; Sharp, Andrew J.; Seidman, Christine E.; Gelb, Bruce D.; Seidman, J. G.

    2016-01-01

    Congenital heart disease (CHD), a prevalent birth defect occurring in 1% of newborns, likely results from aberrant expression of cardiac developmental genes. Mutations in a variety of cardiac transcription factors, developmental signalling molecules and molecules that modify chromatin cause at least 20% of disease, but most CHD remains unexplained. We employ RNAseq analyses to assess allele-specific expression (ASE) and biallelic loss-of-expression (LOE) in 172 tissue samples from 144 surgically repaired CHD subjects. Here we show that only 5% of known imprinted genes with paternal allele silencing are monoallelic versus 56% with paternal allele expression—this cardiac-specific phenomenon seems unrelated to CHD. Further, compared with control subjects, CHD subjects have a significant burden of both LOE genes and ASE events associated with altered gene expression. These studies identify FGFBP2, LBH, RBFOX2, SGSM1 and ZBTB16 as candidate CHD genes because of significantly altered transcriptional expression. PMID:27670201

  17. Update on the Role of Cardiac Magnetic Resonance Imaging in Congenital Heart Disease.

    Science.gov (United States)

    Rajiah, Prabhakar; Tandon, Animesh; Greil, Gerald F; Abbara, Suhny

    2017-01-01

    Cardiac magnetic resonance imaging (CMR) is an important imaging modality in the evaluation of congenital heart diseases (CHD). CMR has several strengths including good spatial and temporal resolutions, wide field-of-view, and multi-planar imaging capabilities. CMR provides significant advantages for imaging in CHD through its ability to measure function, flow and vessel sizes, create three-dimensional reconstructions, and perform tissue characterization, all in a single imaging study. Thus, CMR is the most comprehensive imaging modality available today for the evaluation of CHD. Newer MRI sequences and post-processing tools will allow further development of quantitative methods of analysis, and opens the door for risk stratification in CHD. CMR also can interface with computer modeling, 3D printing, and other methods of understanding the complex anatomic and physiologic relationships in CHD.

  18. Stress and coping in Japanese mothers whose infants required congenital heart disease surgery.

    Science.gov (United States)

    Nakazuru, Aya; Sato, Naho; Nakamura, Nobue

    2017-06-01

    With the growing number of severe congenital heart disease (CHD) surgeries, some hospitals in Japan are experiencing difficulty meeting the demand for CHD surgery. As a result, CHD surgery preparation is difficult for mothers of these infants. To examine the stress and coping of mothers whose infants needed CHD surgery and to identify the factors that influenced maternal coping. Semistructured interviews were conducted with 11 mothers whose infants had undergone CHD surgery. Qualitative analyses of transcribed interviews were performed. The coping of mothers for surgery began when mothers received news of their infant's CHD diagnosis. Maternal stress appraisal and coping changed as surgery approached. In particular, maternal coping was influenced by diagnosis event, symptoms of their child, anticipated number of surgeries, presence of chromosomal abnormality, and infant age. The stressors and coping challenges of mothers whose infants needed CHD surgery changed as the surgery date approached, and these were influenced by 5 factors. © 2017 John Wiley & Sons Australia, Ltd.

  19. Familial co-occurrence of congenital heart defects follows distinct patterns

    DEFF Research Database (Denmark)

    Ellesøe, Sabrina G.; Workman, Christopher T.; Bouvagnet, Patrice

    2017-01-01

    Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision......-making, but the recurrence patterns in families are poorly understood. We aimed to determine recurrence patterns, by investigating the co-occurrences of CHD in 1163 families with known malformations, comprising 3080 individuals with clinically confirmed diagnosis. We calculated rates of concordance and discordance for 41...... specific types of malformations, observing a high variability in the rates of concordance and discordance. By calculating odds ratios for each of 1640 pairs of discordant lesions observed between affected family members, we were able to identify 178 pairs of malformations that co-occurred significantly...

  20. Pulmonary hypertension in infants with congenital heart defects: are leukotrienes involved?

    Directory of Open Access Journals (Sweden)

    A. Serraf

    1997-01-01

    Full Text Available The circulating levels of leukotriene E4 in infants with congenital heart defects, increased pulmonary blood flow and pulmonary arterial hypertension, were determined and compared with infants with decreased pulmonary blood flow (Tetralogy of Fallot. There was no correlation (r=0.38 between the pulmonary arterial pressure (56 ± 4 mmHg and the leukotriene E4 levels (1.37 ± 0.67 ng/ml blood measured in peripheral blood samples from the hypertensive group prior to surgery. There was considerable variation in the detectable leukotriene E4 levels in blood samples from different patients. The levels detected in the blood samples between the two groups of patients was similar. These data suggest that neither the surgical repair during cardiopulmonary bypass nor the pulmonary hypertension appeared to modify the leukotriene E4 blood levels in the small number of patients studied.

  1. Perioperative pharmacological management of pulmonary hypertensive crisis during congenital heart surgery.

    Science.gov (United States)

    Brunner, Nathan; de Jesus Perez, Vinicio A; Richter, Alice; Haddad, François; Denault, André; Rojas, Vanessa; Yuan, Ke; Orcholski, Mark; Liao, Xiaobo

    2014-03-01

    Pulmonary hypertensive crisis is an important cause of morbidity and mortality in patients with pulmonary arterial hypertension secondary to congenital heart disease (PAH-CHD) who require cardiac surgery. At present, prevention and management of perioperative pulmonary hypertensive crisis is aimed at optimizing cardiopulmonary interactions by targeting prostacyclin, endothelin, and nitric oxide signaling pathways within the pulmonary circulation with various pharmacological agents. This review is aimed at familiarizing the practitioner with the current pharmacological treatment for dealing with perioperative pulmonary hypertensive crisis in PAH-CHD patients. Given the life-threatening complications associated with pulmonary hypertensive crisis, proper perioperative planning can help anticipate cardiopulmonary complications and optimize surgical outcomes in this patient population.

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    as having hemodynamically significant CHD according to the recommendations for treatment with palivizumab. CONCLUSION: It was possible to identify a subgroup of children with hemodynamically significant CHD using an epidemiological approach and an algorithm with high validity. Our results will enable well-powered......BACKGROUND: Epidemiological research is facilitated in Sweden by a history of national health care registers, making large unselected national cohort studies possible. However, for complex clinical populations, such as children with congenital heart disease (CHD), register-based studies...... is indicated as a prophylactic treatment against respiratory syncytial virus infections in children with hemodynamically significant CHD. AIM: The aim of the study reported here was to develop and validate an algorithm to identify children with hemodynamically significant CHD according to recommendations...

  3. Stenting and overdilating small Gore-Tex vascular grafts in complex congenital heart disease.

    Science.gov (United States)

    Penford, Gemma; Quandt, Daniel; Mehta, Chetan; Bhole, Vinay; Dhillon, Rami; Seale, Anna; Stumper, Oliver

    2018-01-01

    Gore-Tex ® grafts are integral in the management of congenital heart disease. Issues of graft stenosis or somatic outgrowth may precipitate high-risk early surgery, and catheter intervention is a relatively under-reported management option. To assess efficacy, safety, and outcomes of stenting and overdilating small Gore-Tex ® vascular grafts with the aim of optimizing surgical timing. Retrospective analysis of single-center, 13-year experience of 93 graft stenting interventions or reintervention in 80 patients, with the aim of relieving stenosis ± overdilation, to depose surgical graft revision or optimize surgical timing and candidacy. Median preintervention graft diameter was 52% (IQR 43-63) of nominal size, postintervention this increased to median 102% (IQR 96-120) [P Gore-Tex ® vascular grafts can be stented effectively and expanded beyond nominal diameters by around +26%. This improves oxygen saturations, providing excellent palliation and optimized surgical timing. Adverse events are most frequent in precavopulmonary shunt patients. Gore-Tex ® grafts are widely used in the palliation of cyanotic congenital heart disease. Grafts may become stenosed and do not allow for somatic growth. Over a 13 year period, graft stenting was performed in 80 patients (93 technically successful interventions, 4 unsuccessful.) Median internal lumen change was +50% (of nominal graft size), mean oxygen saturation change +13%. Over-dilation was performed in more than half of the cohort, with a median gain of +26% on nominal graft size. In precavopulmonary shunt patients, there was a moderate incidence of serious complications. Clinically useful deferral of surgery was achieved for the majority. © 2018 Wiley Periodicals, Inc.

  4. A guide for identification and continuing care of adult congenital heart disease patients in primary care.

    Science.gov (United States)

    Ellison, S; Lamb, J; Haines, A; O'Dell, S; Thomas, G; Sethi, S; Ratcliffe, J; Chisholm, S; Vaughan, J; Mahadevan, V S

    2013-03-10

    Surgical and other advances in the treatment and care of congenital heart disease have resulted in a significant increase in the number of adults with congenital heart disease (ACHD), many of whom have no regular cardiology follow-up. Optimised care for ACHD patients requires continuity of specialist and shared care and education of practitioners and patients. The challenges for managing ACHD were identified by a Health Needs Assessment in the North West and are addressed within the UK Department of Health's ACHD Commissioning Guide. An ACHD model of care was recommended in the North West of England and developed by the three North West Cardiac & Stroke Networks. Within this, a Task Group focused on the role of primary care in the identification and continuing care of ACHD patients. A feasibility study demonstrated that existing diagnostic Read Codes can identify ACHD patients on general practice registers. An ACHD Toolkit was developed to provide algorithms to guide the appropriate management of ACHD patients through primary, secondary and/or specialist ACHD care and to improve education/knowledge amongst primary care staff about ACHD and its wider implications. Early findings during the development of this Toolkit illustrate a wide disparity of provision between current and optimal management strategies. Patients lost to follow-up have already been identified and their management modified. By focusing on identifying ACHD patients in primary care and organising/delivering ACHD services, the ACHD Toolkit could help to improve quality, timeliness of care, patient experience and wellbeing. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  5. Functional study of DAND5 variant in patients with Congenital Heart Disease and laterality defects.

    Science.gov (United States)

    Cristo, Fernando; Inácio, José M; de Almeida, Salomé; Mendes, Patrícia; Martins, Duarte Saraiva; Maio, José; Anjos, Rui; Belo, José A

    2017-07-24

    Perturbations on the Left-Right axis establishment lead to laterality defects, with frequently associated Congenital Heart Diseases (CHDs). Indeed, in the last decade, it has been reported that the etiology of isolated cases of CHDs or cases of laterality defects with associated CHDs is linked with variants of genes involved in the Nodal signaling pathway. With this in mind, we analyzed a cohort of 38 unrelated patients with Congenital Heart Defects that can arise from initial perturbations in the formation of the Left-Right axis and 40 unrelated ethnically matched healthy individuals as a control population. Genomic DNA was extracted from buccal epithelial cells, and variants screening was performed by PCR and direct sequencing. A Nodal-dependent luciferase assay was conducted in order to determine the functional effect of the variant found. In this work, we report two patients with a DAND5 heterozygous non-synonymous variant (c.455G > A) in the functional domain of the DAND5 protein (p.R152H), a master regulator of Nodal signaling. Patient 1 presents left isomerism, ventricular septal defect with overriding aorta and pulmonary atresia, while patient 2 presents ventricular septal defect with overriding aorta, right ventricular hypertrophy and pulmonary atresia (a case of extreme tetralogy of Fallot phenotype). The functional analysis assay showed a significant decrease in the activity of this variant protein when compared to its wild-type counterpart. Altogether, our results provide new insight into the molecular mechanism of the laterality defects and related CHDs, priming for the first time DAND5 as one of multiple candidate determinants for CHDs in humans.

  6. Disease-specific knowledge and information preferences of young patients with congenital heart disease.

    Science.gov (United States)

    Lesch, Wiebke; Specht, Katharina; Lux, Anke; Frey, Michael; Utens, Elisabeth; Bauer, Ulrike

    2014-04-01

    Persons suffering from congenital heart defects require lifelong specialist medical care. Failure to attend cardiological follow-up examinations and risky health behaviour in the transition phase may cause severe medical complications. A good level of disease-specific knowledge enhances compliance. Therefore, the study's aim was to investigate: (a) the level of disease-specific knowledge, (b) information preferences, and (c) sources of information for children, adolescents, and young adults regarding their illness. In all, 596 patients, aged 10-30 years, participated in this cross-sectional survey study (response rate: 53%). All patients were already enrolled in the German National Register for Congenital Heart Defects. The main outcome measures included disease-specific knowledge, information preferences, and information sources regarding patients' individual cardiac condition. The patients demonstrated a major knowledge gap concerning their illness and how to live with it. For all three age groups, patients' information needs were unmet on nearly half of the topics of interest. Children's information needs were comparable to those of adolescents and adults concerning several important topics, for example, work/career, sports. Information preferences varied according to age and gender, rather than disease severity. The most important sources of information were physicians (71.0%), family and friends (58.2%), and the Internet (37.5%). The study revealed substantial knowledge gaps, indicating a need for structured multidisciplinary patient education interventions. These interventions should start as early as in childhood and help patients manage their condition and assume responsibility for their own health, so that the transition phase runs smoothly.

  7. Identifying improvements to complex pathways: evidence synthesis and stakeholder engagement in infant congenital heart disease.

    Science.gov (United States)

    Crowe, Sonya; Knowles, Rachel; Wray, Jo; Tregay, Jenifer; Ridout, Deborah A; Utley, Martin; Franklin, Rodney; Bull, Catherine L; Brown, Katherine L

    2016-06-06

    Many infants die in the year following discharge from hospital after surgical or catheter intervention for congenital heart disease (3-5% of discharged infants). There is considerable variability in the provision of care and support in this period, and some families experience barriers to care. We aimed to identify ways to improve discharge and postdischarge care for this patient group. A systematic evidence synthesis aligned with a process of eliciting the perspectives of families and professionals from community, primary, secondary and tertiary care. UK. A set of evidence-informed recommendations for improving the discharge and postdischarge care of infants following intervention for congenital heart disease was produced. These address known challenges with current care processes and, recognising current resource constraints, are targeted at patient groups based on the number of patients affected and the level and nature of their risk of adverse 1-year outcome. The recommendations include: structured discharge documentation, discharging certain high-risk patients via their local hospital, enhanced surveillance for patients with certain (high-risk) cardiac diagnoses and an early warning tool for parents and community health professionals. Our recommendations set out a comprehensive, system-wide approach for improving discharge and postdischarge services. This approach could be used to address challenges in delivering care for other patient populations that can fall through gaps between sectors and organisations. 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/

  8. Congenital heart surgery: surgical performance according to the Aristotle complexity score.

    Science.gov (United States)

    Arenz, Claudia; Asfour, Boulos; Hraska, Viktor; Photiadis, Joachim; Haun, Christoph; Schindler, Ehrenfried; Sinzobahamvya, Nicodème

    2011-04-01

    Aristotle score methodology defines surgical performance as 'complexity score times hospital survival'. We analysed how this performance evolved over time and in correlation with case volume. Aristotle basic and comprehensive complexity scores and corresponding basic and comprehensive surgical performances were determined for primary (main) procedures carried out from 2006 to 2009. Surgical case volume performance described as unit performance was estimated as 'surgical performance times the number of primary procedures'. Basic and comprehensive complexity scores for the whole cohort of procedures (n=1828) were 7.74±2.66 and 9.89±3.91, respectively. With an early survival of 97.5% (1783/1828), mean basic and comprehensive surgical performances reached 7.54±2.54 and 9.64±3.81, respectively. Basic surgical performance varied little over the years: 7.46±2.48 in 2006, 7.43±2.58 in 2007, 7.50±2.76 in 2008 and 7.79±2.54 in 2009. Comprehensive surgical performance decreased from 9.56±3.91 (2006) to 9.22±3.94 (2007), and then to 9.13±3.77 (2008), thereafter increasing up to 10.62±3.67 (2009). No significant change of performance was observed for low comprehensive complexity levels 1-3. Variation concerned level 4 (p=0.048) which involved the majority of procedures (746, or 41% of cases) and level 6 (pAristotle scoring of surgical performance allows quality assessment of surgical management of congenital heart disease over time. The newly defined unit performance appears to well reflect the trend of activity and efficiency of a congenital heart surgery department. Copyright © 2010 European Association for Cardio-Thoracic Surgery. Published by Elsevier B.V. All rights reserved.

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

    Energy Technology Data Exchange (ETDEWEB)

    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.

  10. Minimally Invasive Epicardial Pacemaker Implantation in Neonates with Congenital Heart Block.

    Science.gov (United States)

    Costa, Roberto; Silva, Katia Regina da; Martinelli Filho, Martino; Carrillo, Roger

    2017-10-01

    Few studies have characterized the surgical outcomes following epicardial pacemaker implantation in neonates with congenital complete atrioventricular block (CCAVB). This study sought to assess the long-term outcomes of a minimally invasive epicardial approach using a subxiphoid access for pacemaker implantation in neonates. Between July 2002 and February 2015, 16 consecutive neonates underwent epicardial pacemaker implantation due to CCAVB. Among these, 12 (75.0%) had congenital heart defects associated with CCAVB. The patients had a mean age of 4.7 ± 5.3 days and nine (56.3%) were female. Bipolar steroid-eluting epicardial leads were implanted in all patients through a minimally invasive subxiphoid approach and fixed on the diaphragmatic ventricular surface. The pulse generator was placed in an epigastric submuscular position. All procedures were successful, with no perioperative complications or early deaths. Mean operating time was 90.2 ± 16.8 minutes. None of the patients displayed pacing or sensing dysfunction, and all parameters remained stable throughout the follow-up period of 4.1 ± 3.9 years. Three children underwent pulse generator replacement due to normal battery depletion at 4.0, 7.2, and 9.0 years of age without the need of ventricular lead replacement. There were two deaths at 12 and 325 days after pacemaker implantation due to bleeding from thrombolytic use and progressive refractory heart failure, respectively. Epicardial pacemaker implantation through a subxiphoid approach in neonates with CCAVB is technically feasible and associated with excellent surgical outcomes and pacing lead longevity.

  11. Effectiveness of simulator-based echocardiography training of noncardiologists in congenital heart diseases.

    Science.gov (United States)

    Wagner, Robert; Razek, Vit; Gräfe, Florentine; Berlage, Thomas; Janoušek, Jan; Daehnert, Ingo; Weidenbach, Michael

    2013-07-01

    Congenital heart diseases (CHD) are responsible for substantial morbidity and mortality in neonates. The preliminary diagnosis often is made by noncardiologists. For this reason, there is a huge demand of training in echocardiography of CHD. This is difficult to achieve due to limited resources of specialized centers. The goal of this study was to investigate the training effect of the echocardiography simulator EchoCom on trainee's ability to diagnose CHD. We enrolled 10 residents for simulator-based training in echocardiography of CHD. All participants were instructed on the simulator's basic handling and had one hour to scan the first 9 datasets information (ventricular septal defect, atrial septal defect, atrioventricular septal defect, Tetralogy of Fallot, transposition of great arteries, congenital corrected transposition of great arteries, common arterial trunk, hypoplastic left heart syndrome, normal anatomy) and establish a diagnosis. No help was given except for support regarding simulator related issues. Afterward, 2 rounds of structured simulator based echocardiography training focused on echocardiographic anatomy, spatial orientation, standard views, and echocardiographic anatomy of different CHD followed. All participants completed a standardized questionnaire containing 10 multiple-choice (MC) questions focusing on basic theoretical knowledge in echocardiographic anatomy and common CHD. Almost all of the residents invited from the affiliated children's hospital had little (20%) or no experience (80%) in echocardiography of CHD. Their Pretest and Posttest scores showed significant improvement for both, MC test and performance test, respectively. Our study showed that simulator-based training in echocardiography in CHD could be very effective and may assist with training outside the scope of CHD. © 2013, Wiley Periodicals, Inc.

  12. Design and Implementation of a Prospective Adult Congenital Heart Disease Biobank.

    Science.gov (United States)

    Opotowsky, Alexander R; Loukas, Brittani; Ellervik, Christina; Moko, Lilamarie E; Singh, Michael N; Landzberg, Elizabeth I; Rimm, Eric B; Landzberg, Michael J

    2016-11-01

    Adults with congenital heart disease (ACHD) comprise a growing, increasingly complex population. The Boston Adult Congenital Heart Disease Biobank is a program for the collection and storage of biospecimens to provide a sustainable resource for scientific biomarker investigation in ACHD. We describe a protocol to collect, process, and store biospecimens for ACHD or associated diagnoses developed based on existing literature and consultation with cardiovascular biomarker epidemiologists. The protocol involves collecting urine and ∼48.5 mL of blood. A subset of the blood and urine undergoes immediate clinically relevant testing. The remaining biospecimens are processed soon after collection and stored at -80°C as aliquots of ethylenediaminetetraacetic acid (EDTA) and lithium heparin plasma, serum, red cell and buffy coat pellet, and urine supernatant. Including tubes with diverse anticoagulant and clot accelerator contents will enable flexible downstream use. Demographic and clinical data are entered into a database; data on biospecimen collection, processing, and storage are managed by an enterprise laboratory information management system. Since implementation in 2012, we have enrolled more than 650 unique participants (aged 18-80 years, 53.3% women); the Biobank contains over 11,000 biospecimen aliquots. The most common primary CHD diagnoses are single ventricle status-post Fontan procedure (18.8%), repaired tetralogy of Fallot with pulmonary stenosis or atresia (17.6%), and left-sided obstructive lesions (17.5%). We describe the design and implementation of biospecimen collection, handling, and storage protocols with multiple levels of quality assurance. These protocols are feasible and reflect the size and goals of the Boston ACHD Biobank. © The Author(s) 2016.

  13. Mice carrying a hypomorphic Evi1 allele are embryonic viable but exhibit severe congenital heart defects.

    Directory of Open Access Journals (Sweden)

    Emilie A Bard-Chapeau

    Full Text Available The ecotropic viral integration site 1 (Evi1 oncogenic transcription factor is one of a number of alternative transcripts encoded by the Mds1 and Evi1 complex locus (Mecom. Overexpression of Evi1 has been observed in a number of myeloid disorders and is associated with poor patient survival. It is also amplified and/or overexpressed in many epithelial cancers including nasopharyngeal carcinoma, ovarian carcinoma, ependymomas, and lung and colorectal cancers. Two murine knockout models have also demonstrated Evi1's critical role in the maintenance of hematopoietic stem cell renewal with its absence resulting in the death of mutant embryos due to hematopoietic failure. Here we characterize a novel mouse model (designated Evi1(fl3 in which Evi1 exon 3, which carries the ATG start, is flanked by loxP sites. Unexpectedly, we found that germline deletion of exon3 produces a hypomorphic allele due to the use of an alternative ATG start site located in exon 4, resulting in a minor Evi1 N-terminal truncation and a block in expression of the Mds1-Evi1 fusion transcript. Evi1(δex3/δex3 mutant embryos showed only a mild non-lethal hematopoietic phenotype and bone marrow failure was only observed in adult Vav-iCre/+, Evi1(fl3/fl3 mice in which exon 3 was specifically deleted in the hematopoietic system. Evi1(δex3/δex3 knockout pups are born in normal numbers but die during the perinatal period from congenital heart defects. Database searches identified 143 genes with similar mutant heart phenotypes as those observed in Evi1(δex3/δex3 mutant pups. Interestingly, 42 of these congenital heart defect genes contain known Evi1-binding sites, and expression of 18 of these genes are also effected by Evi1 siRNA knockdown. These results show a potential functional involvement of Evi1 target genes in heart development and indicate that Evi1 is part of a transcriptional program that regulates cardiac development in addition to the development of blood.

  14. Mice carrying a hypomorphic Evi1 allele are embryonic viable but exhibit severe congenital heart defects.

    Science.gov (United States)

    Bard-Chapeau, Emilie A; Szumska, Dorota; Jacob, Bindya; Chua, Belinda Q L; Chatterjee, Gouri C; Zhang, Yi; Ward, Jerrold M; Urun, Fatma; Kinameri, Emi; Vincent, Stéphane D; Ahmed, Sayadi; Bhattacharya, Shoumo; Osato, Motomi; Perkins, Archibald S; Moore, Adrian W; Jenkins, Nancy A; Copeland, Neal G

    2014-01-01

    The ecotropic viral integration site 1 (Evi1) oncogenic transcription factor is one of a number of alternative transcripts encoded by the Mds1 and Evi1 complex locus (Mecom). Overexpression of Evi1 has been observed in a number of myeloid disorders and is associated with poor patient survival. It is also amplified and/or overexpressed in many epithelial cancers including nasopharyngeal carcinoma, ovarian carcinoma, ependymomas, and lung and colorectal cancers. Two murine knockout models have also demonstrated Evi1's critical role in the maintenance of hematopoietic stem cell renewal with its absence resulting in the death of mutant embryos due to hematopoietic failure. Here we characterize a novel mouse model (designated Evi1(fl3)) in which Evi1 exon 3, which carries the ATG start, is flanked by loxP sites. Unexpectedly, we found that germline deletion of exon3 produces a hypomorphic allele due to the use of an alternative ATG start site located in exon 4, resulting in a minor Evi1 N-terminal truncation and a block in expression of the Mds1-Evi1 fusion transcript. Evi1(δex3/δex3) mutant embryos showed only a mild non-lethal hematopoietic phenotype and bone marrow failure was only observed in adult Vav-iCre/+, Evi1(fl3/fl3) mice in which exon 3 was specifically deleted in the hematopoietic system. Evi1(δex3/δex3) knockout pups are born in normal numbers but die during the perinatal period from congenital heart defects. Database searches identified 143 genes with similar mutant heart phenotypes as those observed in Evi1(δex3/δex3) mutant pups. Interestingly, 42 of these congenital heart defect genes contain known Evi1-binding sites, and expression of 18 of these genes are also effected by Evi1 siRNA knockdown. These results show a potential functional involvement of Evi1 target genes in heart development and indicate that Evi1 is part of a transcriptional program that regulates cardiac development in addition to the development of blood.

  15. Right upper limb bud triplication and polythelia, left sided hemihypertrophy and congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis: disorganisation-like spectrum or patterning gene defect?

    Science.gov (United States)

    Sabry, M A; al-Saleh, Q; al-Saw'an, R; al-Awadi, S A; Farag, T I

    1995-07-01

    A Somali female baby with right upper limb triplication, polythelia, left sided hemihypertrophy, congenital hip dislocation, facial dysmorphism, congenital heart disease, and scoliosis is described. It seems that the above described pattern of anomalies has not been reported before. The possible developmental genetic mechanism responsible for this phenotype is briefly discussed.

  16. Objectively assessed physical activity and sedentary behaviour does not differ between children and adolescents with and without a congenital heart defect: a pilot examination.

    Science.gov (United States)

    Ewalt, Lauren A; Danduran, Michael J; Strath, Scott J; Moerchen, Victoria; Swartz, Ann M

    2012-02-01

    To objectively evaluate and describe physical activity levels in children with a stable congenital heart defect and compare those levels with children who do not have a congenital heart defect. We matched 21 pairs of children for gender and grade in school and gave them an accelerometer-based motion sensor to wear for 7 consecutive days. Physical activity levels did not differ between children with and without a congenital heart defect. During the 7 days of monitoring, children in this study spent most of their time in sedentary behaviours, that is, 6.7 hours of the 13 monitored hours, 54 minutes in moderate-intensity physical activity, and 12 minutes in vigorous-intensity physical activity. Less than one-fifth of all participants, with or without a congenital heart defect, accumulated sufficient physical activity to meet current physical activity recommendations for children and adolescents. Children with a stable congenital heart defect have activity behaviours that are similar to children without a congenital heart defect. Habitual physical activity in children with a congenital heart defect should be encouraged early on in life to develop strong physical activity habits that will hopefully follow them across their lifespan.

  17. A case study of infant physiologic response to skin-to-skin contact following surgery for complex congenital heart disease

    Science.gov (United States)

    Harrison, Tondi M.; Ludington-Hoe, Susan

    2014-01-01

    Background Infants with complex congenital heart disease requiring surgical intervention within the first days or weeks of life may be the most seriously ill infants needing intensive nursing and medical care immediately after birth. Skin to skin contact (SSC) is well-accepted and practiced as a positive therapeutic intervention in premature infants, but is not routinely offered to infants in cardiac intensive care units. Physiologic effects of SSC in the congenital heart disease population must be examined before recommending incorporation of SSC into standard care routines. Objective The purpose of this case study was to describe the physiologic response to a single session of SSC in an 18-day-old infant with hypoplastic left heart syndrome. Methods Repeated measures of heart rate, respiratory rate, oxygen saturation, blood pressure, and temperature were recorded 30 minutes prior to SSC, during SSC (including interruptions for bottle and breast feedings), and 10 minutes after SSC was completed. Results All physiologic parameters were clinically acceptable throughout the 135-minute observation. Conclusion This case study provides beginning evidence that SSC is safe in full-term infants following surgery for complex congenital heart disease. Further research with a larger sample is needed to examine effects of SSC on infant physiology before surgery and earlier in the postoperative time period as well as on additional outcomes such as length of stay, maternal-infant interaction, and neurodevelopment. PMID:25325374

  18. How to deliver the best: a call for action for congenital heart disease treatments in India.

    Science.gov (United States)

    Saxena, Anita

    2014-05-01

    Most of the children born with congenital heart disease are expected to lead normal, productive lives if treated in time. However, the privilege of early diagnosis and timely intervention is restricted to children born in developed countries. India has one of the highest birth rates in the world and, considering that the prevalence of congenital heart disease does not vary in different regions, a large number of babies with congenital heart disease are born in India every year. It is estimated that approximately 80,000 newborns with heart disease need early intervention to survive their first birthday. Less than 10% of these actually undergo intervention. Providing optimal care for all these children is a daunting task, and requires funds and proper planning at various levels of the healthcare system. Currently, India only has 22 cardiac centers for children with heart diseases and only three of these are funded by the government. This article describes the magnitude of the problem, lacunae in the current state, and challenges and opportunities for providing care to this large population of children.

  19. 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.

  20. Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects.

    Science.gov (United States)

    Agopian, A J; Goldmuntz, Elizabeth; Hakonarson, Hakon; Sewda, Anshuman; Taylor, Deanne; Mitchell, Laura E

    2017-06-01

    Maternal and inherited (ie, case) genetic factors likely contribute to the pathogenesis of congenital heart defects, but it is unclear whether individual common variants confer a large risk. To evaluate the relationship between individual common maternal/inherited genotypes and risk for heart defects, we conducted genome-wide association studies in 5 cohorts. Three cohorts were recruited at the Children's Hospital of Philadelphia: 670 conotruncal heart defect (CTD) case-parent trios, 317 left ventricular obstructive tract defect (LVOTD) case-parent trios, and 406 CTD cases (n=406) and 2976 pediatric controls. Two cohorts were recruited through the Pediatric Cardiac Genomics Consortium: 355 CTD trios and 192 LVOTD trios. We also conducted meta-analyses using the genome-wide association study results from the CTD cohorts, the LVOTD cohorts, and from the combined CTD and LVOTD cohorts. In the individual genome-wide association studies, several genome-wide significant associations ( P ≤5×10 -8 ) were observed. In our meta-analyses, 1 genome-wide significant association was detected: the case genotype for rs72820264, an intragenetic single-nucleotide polymorphism associated with LVOTDs ( P =2.1×10 -8 ). We identified 1 novel candidate region associated with LVOTDs and report on several additional regions with suggestive evidence for association with CTD and LVOTD. These studies were constrained by the relatively small samples sizes and thus have limited power to detect small to moderate associations. Approaches that minimize the multiple testing burden (eg, gene or pathway based) may, therefore, be required to uncover common variants contributing to the risk of these relatively rare conditions. © 2017 American Heart Association, Inc.