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Sample records for adult congenital heart

  1. Adult congenital heart disease

    OpenAIRE

    Morphet, John AM

    2006-01-01

    One million people over the age of 20 suffer from congenital heart disease in the United States. These adult patients can slip through the cracks of our medical system; many are too old to be cared for in most pediatric institutions by pediatric cardiologists and, unfortunately, most adult cardiologists are not trained in congenital heart disease. Therefore, it is important to identify the common lesions in adult congenital heart disease and how they should be managed. Acyanotic congenital he...

  2. Health in adults with congenital heart disease.

    Science.gov (United States)

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

    2016-09-01

    Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. PMID:27451323

  3. Gender differences in adult congenital heart disease

    NARCIS (Netherlands)

    P. Engelfriet; B.J.M. Mulder

    2009-01-01

    Objective. To assess gender differences in morbidity, mortality and patient management among adults born with a heart defect. Methods and results. The database of the European Heart Survey on adult congenital heart disease was explored. This contains data on 4110 patients with one of eight congenita

  4. Anticoagulation in adults with congenital heart disease

    DEFF Research Database (Denmark)

    Jensen, A S; Idorn, L; Nørager, B;

    2015-01-01

    Adults with congenital heart disease are a growing population. One of the major challenges in the care of these patients is to prevent thromboembolic episodes. Despite relative young age and no typical cardiovascular risk factors, this cohort has a high prevalence of thrombotic events. It is....... 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...... 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...

  5. The changing state of surgery for adult congenital heart disease

    OpenAIRE

    Monro, J

    2005-01-01

    The number of patients with adult congenital heart disease is expected to increase by 25% during this decade, so that by 2010 there will be more patients undergoing surgery for congenital heart disease over 16 years of age than under

  6. Evaluation of Adults With Congenital Heart Disease.

    Science.gov (United States)

    Graziani, Francesca; Delogu, Angelica Bibiana

    2016-03-01

    The clinical approach to adults with congenital heart diseases (ACHDs) is unique in cardiovascular medicine because these patients encompass a broad range of presentations. Each patient, despite having similar diagnosis, will be anatomically and physiologically unlike others within ACHD population, in relation to the type of repair, age at repair, associated defects, with specific long-term risk factors and complications. Furthermore, as many patients will not complain of symptoms, clinical evaluation and diagnostic testing must also be based on the underlying main diagnostic category, with complete standardized lesion-specific clinical protocols, investigating all known risk factors specific for each congenital heart disease and performed as part of screening for significant long-term complications. The first part of this review will focus on clinical history, physical examination, and the most important diagnostic testing in ACHD population. The second part of the article will focus on some clinical issues we have to face in our daily practice, such as heart failure, cyanosis, and pulmonary hypertension. Furthermore, as survival rates of ACHD population continue to improve and patients with this condition live longer, we will briefly report on a new clinical concern regarding the impact of acquired morbidities like coronary artery disease that appear to be of greater importance in defining outcome in older patients with ACHD. PMID:26957402

  7. Cardiac Magnetic Resonance In Adults With Congenital Heart Disease

    OpenAIRE

    Partington, Sara L.; Valente, Anne Marie

    2013-01-01

    Increasing numbers of adults with congenital heart disease are referred for cardiac magnetic resonance imaging. Knowledge of the congenital heart anatomy, prior surgical interventions, and the development of an imaging focus for each individual patient plays a crucial role when performing a successful cardiac magnetic resonance imaging examination. The following manuscript focuses on cardiac magnetic resonance imaging considerations of three specific conotruncal congenital heart lesions: tetr...

  8. Cardiac arrhythmias in adults with congenital heart disease

    NARCIS (Netherlands)

    Z. Koyak

    2016-01-01

    Arrhythmias are a major cause of hospital admissions and morbidity in adults with congenital heart disease (CHD). Furthermore, the leading cause of death in adults with CHD is sudden cardiac death (SCD) of presumed arrhythmic aetiology. The main objectives of this thesis were to identify risk factor

  9. [Adult patients with congenital heart disease].

    Science.gov (United States)

    Grabitz, R G; Kaemmerer, H; Mohr, F-W

    2013-01-01

    Unlike a few decades ago, today most patients with congenital heart disease reach adulthood after intervention or reparative surgery. As complete correction is generally not possible, a patient population with great complexity and a particular challenge to medical management is rising and a regular follow-up is mandatory. The aim of care is the timely recognition of residual or associated problems. Frequency and intensity of follow-up examinations depend on type and complexity of the lesion. The standard repertoire at follow-up consists of a specific history, clinical examination, ECG, Holter-monitoring, exercise tests, and echocardiography. Depending on the indication, cardio-MRI, CT scan, and sophisticated cardiac catheterization may become necessary. Long-term complications like rhythm disturbances, pulmonary hypertension, or heart failure are frequent, despite optimal care. Acute complications like arrhythmias, infective endocarditis, cerebral events, cerebral abscesses, aortic dissection, pulmonary embolism, and bleeding have to be recognized early and treated appropriately. Additional focus has to be placed on counseling and management of noncardiac disease and surgery, pregnancy and delivery, exercise at work and in private life, driving, and insurance issues. Training and certification of physicians as well as the establishment of specialized centers will help to ensure high quality health care for the affected patient population. PMID:23318541

  10. 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.

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

    International Nuclear Information System (INIS)

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

    Institute of Scientific and Technical Information of China (English)

    陈果

    2013-01-01

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

  13. Adult congenital heart disease: experience with the surgical approach

    Directory of Open Access Journals (Sweden)

    Fernando Tadeu Vasconcelos Amaral

    2013-09-01

    Full Text Available OBJECTIVE: To report the institution experience with the surgical treatment of adults with congenital heart disease due to the increasing number of these patients and the need for a better discussion of the subject. METHODS: Retrospective analysis describing demographic data, risk factors and results. RESULTS: 191 patients between 16 and 74 years old were operated on. Primary correction was done in 171 cases, 93 (55% for atrial septal defect repair. Among 20 (12% reoperations, pulmonary valve replacement was done in six cases. The mean intensive care and hospital stay were 2.7 and 8.5 days respectively, significantly greater for the reoperated cases (P=0.001. The mean bypass and clamping times were 68.6 and 44.7 minutes respectively, greater for the reoperated cases (P<0.0001 and P=0.0003 respectively. Hospital mortality was 4.2% and male sex, functional class III-IV and older age at operation were predictive risk factors. Significant complications were more frequent in the reoperated cases (P<0.003, mainly atrial flutter and fibrillation. Among 183 patients discharged, 149 (82% are being followed and atrial flutter and fibrillation are common. The mean functional class value improved significantly after operation (1.66 to 1.11; P<0.0001. The estimated survival was 96.2% in six years. CONCLUSION: Heart surgery in adults with congenital heart disease can be accomplished with low mortality and functional class improvement. Immediate and late complications are frequent. Multicenter studies are important to better characterize this patient population in the country.

  14. 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.

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

    Science.gov (United States)

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

    2016-04-01

    Exercise capacity in adults with various forms of congenital heart disease is substantially lower than that of the general population. Although the underlying congenital heart defect, and its sequelae, certainly contribute to observed exercise limitations, there is evidence suggesting that deconditioning and a sedentary lifestyle are important implicated factors. The prevalence of acquired cardiovascular comorbidities is on the increase in the aging population with congenital heart disease, such that obesity and a sedentary lifestyle confer increased risk. Health fears and misconceptions are common barriers to regular physical activity in adults with congenital heart disease, despite evidence linking lower functional capacity to poor outcomes, and data supporting the safety and efficacy of exercise in bestowing numerous physical and psychosocial rewards. With few exceptions, adults with congenital heart disease should be counselled to exercise regularly. In this contemporary review, we provide a practical approach to assessing adults with congenital heart disease before exercise training. We examine available evidence supporting the safety and benefits of exercise training. Risks associated with exercise training in adults with congenital heart disease are discussed, particularly with regard to sudden cardiac death. Finally, recommendations for exercise training are provided, with consideration for the type of congenital heart disease, the nature (ie, static vs dynamic) and intensity (ie, low, medium, high) of the physical activity, and associated factors such as systemic ventricular dysfunction and residual defects. Further research is required to determine optimal exercise regimens and to identify effective strategies to implement exercise training as a key determinant of healthy living. PMID:26868839

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

    NARCIS (Netherlands)

    F. Meijboom; B.J.M. Mulder

    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 patien

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

    OpenAIRE

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

    2010-01-01

    With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. They have distinctive forms of heart failure and their cardiac disease can be associated with pulmonary hypertension, thromboemboli, complex arrhythmias and sudden death. Medical aspects that need to be considered relate to the long-term and mult...

  18. Physical performance, physical activity, body composition and exercise training in adults with congenital heart disease

    OpenAIRE

    Sandberg, Camilla

    2016-01-01

    Background Adults with congenital heart disease (CHD) is a growing population and related to advances in surgical and medical treatment, they now outnumber the children with corresponding lesions. Since a congenital heart lesion often results in reduced exercise capacity, this population is a potential target for physiotherapy. To what extent this reduction in exercise capacity is caused by abnormal cardiovascular anatomy and physiology or to what degree insufficient physical activity contrib...

  19. Adult congenital heart disease: A paradigm of epidemiological change.

    Science.gov (United States)

    Ntiloudi, Despοina; Giannakoulas, George; Parcharidou, Despοina; Panagiotidis, Theofilos; Gatzoulis, Michael A; Karvounis, Haralambos

    2016-09-01

    Increasing survival rates for patients with congenital heart disease (CHD) represent a major achievement of modern medicine. Despite incredible progress been made in diagnosis, follow-up, early treatment and management in adulthood, many patients are faced with long-term complications, such as arrhythmia, thromboembolism, heart failure, pulmonary hypertension, endocarditis and/or the need for reoperation. In parallel, half of the patients are female, most of childbearing age, and, thus warrant specialist reproductive counseling and appropriate obstetric care. It is not surprising therefore, that healthcare utilization has steadily increased for CHD in recent years. Furthermore, cardiology and other medical disciplines are now faced with new challenges, namely the provision of expert care and optimal, lifelong medical surveillance for these patients. PMID:27240150

  20. 3D Printing to Guide Ventricular Assist Device Placement in Adults With Congenital Heart Disease and Heart Failure.

    Science.gov (United States)

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

    2016-04-01

    As the population of adults with congenital heart disease continues to grow, so does the number of these patients with heart failure. Ventricular assist devices are underutilized in adults with congenital heart disease due to their complex anatomic arrangements and physiology. Advanced imaging techniques that may increase the utilization of mechanical circulatory support in this population must be explored. Three-dimensional printing offers individualized structural models that would enable pre-surgical planning of cannula and device placement in adults with congenital cardiac disease and heart failure who are candidates for such therapies. We present a review of relevant cardiac anomalies, cases in which such models could be utilized, and some background on the cost and procedure associated with this process. PMID:27033018

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

    OpenAIRE

    Swan, L.; Hillis, W

    2000-01-01

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

  2. Real-Time Color-Flow CMR in Adults with Congenital Heart Disease

    OpenAIRE

    de la Pena, Erasmo; Nguyen, Patricia K.; Nayak, Krishna S; Yang, Phillip C.; Rosenthal, David N.; Hu, Bob S; Pauly, John M; Michael V. McConnell

    2006-01-01

    CMR is valuable in the evaluation of congenital heart disease (CHD). Traditional flow imaging sequences involve cardiac and respiratory gating, increasing scan time and susceptibility to arrhythmias. We studied a real-time color-flow CMR system for the detection of flow abnormalities in 13 adults with CHD. All 16 congenital flow abnormalities previously detected by echocardiography were visualized using color-flow CMR, including atrial septal defects (n = 4), ventricular septal defects (n = 9...

  3. Report of the National Heart, Lung, and Blood Institute Working Group on research in adult congenital heart disease.

    Science.gov (United States)

    Williams, Roberta G; Pearson, Gail D; Barst, Robyn J; Child, John S; del Nido, Pedro; Gersony, Welton M; Kuehl, Karen S; Landzberg, Michael J; Myerson, Merle; Neish, Steven R; Sahn, David J; Verstappen, Amy; Warnes, Carole A; Webb, Catherine L

    2006-02-21

    The Working Group on research in adult congenital heart disease (ACHD) was convened in September 2004 under the sponsorship of National Heart, Lung, and Blood Institute (NHLBI) and the Office of Rare Diseases, National Institutes of Health, Department of Health and Human Services, to make recommendations on research needs. The purpose of the Working Group was to advise the NHLBI on the current state of the science in ACHD and barriers to optimal clinical care, and to make specific recommendations for overcoming those barriers. The members of the Working Group were chosen to provide expert input on a broad range of research issues from both scientific and lay perspectives. The Working Group reviewed data on the epidemiology of ACHD, long-term outcomes of complex cardiovascular malformations, issues in assessing morphology and function with current imaging techniques, surgical and catheter-based interventions, management of related conditions including pregnancy and arrhythmias, quality of life, and informatics. After research and training barriers were discussed, the Working Group recommended outreach and educational programs for adults with congenital heart disease, a network of specialized adult congenital heart disease regional centers, technology development to support advances in imaging and modeling of abnormal structure and function, and a consensus on appropriate training for physicians to provide care for adults with congenital heart disease. PMID:16487831

  4. Congenital Heart Information Network

    Science.gov (United States)

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

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

    International Nuclear Information System (INIS)

    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.

  6. Nationwide Hospitalization Trends in Adult Congenital Heart Disease Across 2003–2012

    OpenAIRE

    Agarwal, Shikhar; Sud, Karan; Menon, Venu

    2016-01-01

    Background We aimed to assess trends in hospitalization, outcomes, and resource utilization among patients admitted with adult congenital heart disease (ACHD). Methods and Results We used the 2003–2012 US Nationwide Inpatient Sample for this study. All admissions with an ACHD were identified using standard ICD codes. Resource utilization was assessed using length of stay, invasive procedure utilization, and cost of hospitalization. There was a significant increase in the number of both simple...

  7. 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. PMID:25162333

  8. Is vaginal delivery or caesarean section the safer mode of delivery in patients with adult congenital heart disease?

    OpenAIRE

    Asfour, Victoria; Murphy, Michael O; Attia, Rizwan

    2013-01-01

    A best evidence topic in cardiac surgery was written according to a structured protocol. The question addressed was: is vaginal delivery or caesarean section (CS) the safer mode of delivery in patients with adult congenital heart disease? Of the 119 studies, 13 papers represented the best evidence on the topic. Recommendations are based on 29 262 patients. Those having undergone successful corrective or palliative cardiac surgery for congenital heart disease, in addition to patients with unop...

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

    Science.gov (United States)

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

    2012-01-01

    The Adult Congenital and Pediatric Cardiology (AC/PC) Section was established to develop a clear voice within the American College of Cardiology and address the myriad issues facing the congenital heart disease profession. The Section is governed by the AC/PC Council, which includes pediatric cardiologists, adult congenital cardiologists, a cardiac care associate, and a fellow-in-training member. The Council is responsible for bidirectional communication between the College's Board of Trustees and the AC/PC Section members. Since its founding in 2004, Section objectives have been defined by the College's mission: to advocate for quality cardiovascular care through education, research promotion, and the development and application of standards and guidelines and to influence health care policy. The pillars of the College-advocacy, quality, education, and member engagement-serve as the defining template for the Section's strategy. The Section has developed work groups in advocacy, clinical practice, education and training, quality, and publications. A separate leadership group has been developed for adult congenital heart disease. Work groups are open to all Section members. Recognition of the importance of lifelong care in congenital heart disease led Section leaders to incorporate pediatric cardiology and adult congenital heart disease content into each of the work groups. There are more than 1,200 Section members, with nearly 400 members actively contributing to Section activities. This article outlines Section efforts to date and highlights significant successes to date. PMID:22192673

  10. Impact of Congenital Heart Defects

    Science.gov (United States)

    ... High Blood Pressure Tools & Resources Stroke More The Impact of Congenital Heart Defects Updated:Oct 21,2015 ... is an important part of successful coping. The Impact of Congenital Heart Defects • Home • About Congenital Heart ...

  11. Emerging Research Directions in Adult Congenital Heart Disease: A Report From an NHLBI/ACHA Working Group.

    Science.gov (United States)

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

    2016-04-26

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

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

    OpenAIRE

    Silversides, Candice K.; Bradley, Timothy; Colman, Jack; Connelly, Michael; Harris, Louise; Khairy, Paul; Mital, Seema; Niwa, Koichiro; Oechslin, Erwin; Poirier, Nancy; Schwerzmann, Markus; Taylor, Dylan; Muhll, Isabelle Vonder; Baumgartner, Helmut; Benson, Lee

    2010-01-01

    With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. They have distinctive forms of heart failure, and their cardiac disease can be associated with pulmonary hypertension, thromboemboli, complex arrhythmias and sudden death. Medical aspects that need to be considered relate to the long-term and mul...

  13. 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. PMID:26471823

  14. Grown-up congenital heart (GUCH) disease: current needs and provision of service for adolescents and adults with congenital heart disease in the UK

    OpenAIRE

    2002-01-01

    The size of the national population of patients with grown-up congenital heart disease (GUCH) is uncertain, but since 80–85% of patients born with congenital heart disease now survive to adulthood (age 16 years), an annual increase of 2500 can be anticipated according to birth rate. Organisation of medical care is haphazard with only three of 18 cardiac surgical centres operating on over 30 cases per annum and only two established specialised units fully equipped and staffed.

  15. Congenital heart defect corrective surgeries

    Science.gov (United States)

    ... open Arrhythmias Atrial septal defect (ASD) Breathing difficulty Cardiac catheterization Cardiovascular Coarctation of the aorta Congenital heart disease Heart failure - overview Heart transplant Hypoplastic left heart syndrome Patent ductus arteriosus Pediatric ...

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

    Institute of Scientific and Technical Information of China (English)

    徐仲英

    2013-01-01

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

  17. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1997-01-01

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

  18. Challenges Caring for Adults With Congenital Heart Disease in Pediatric Settings: How Nurses Can Aid in the Transition.

    Science.gov (United States)

    Anton, Kristin

    2016-08-01

    As surgery for complex congenital heart disease is becoming more advanced, an increasing number of patients are surviving into adulthood, yet many of these adult patients remain in the pediatric hospital system. Caring for adult patients is often a challenge for pediatric nurses, because the nurses have less experience and comfort with adult care, medications, comorbid conditions, and rehabilitation techniques. As these patients age, the increased risk of complications and comorbid conditions from their heart disease may complicate their care further. Although these patients are admitted on a pediatric unit, nurses can aid in promoting their independence and help prepare them to transition into the adult medical system. Nurses, the comprehensive medical teams, and patients' families can all effectively influence the process of preparing these patients for transition to adult care. PMID:27481810

  19. Pregnancy in women with congenital heart disease

    NARCIS (Netherlands)

    Greutmann, Matthias; Pieper, Petronella G.

    2015-01-01

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

  20. Genetics Home Reference: critical congenital heart disease

    Science.gov (United States)

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

  1. Perioperative Anaesthetic Management of a Patient of Gilbert’s Syndrome with Adult Congenital Heart Disease - A Rare Presentation

    Directory of Open Access Journals (Sweden)

    Sambhunath Das

    2014-11-01

    Full Text Available Gilbert's syndrome is a hereditary condition with the genetic mutation of the enzyme uridine diphosphate glucuronosyltransferase, characterized by intermittent jaundice in the absence of hemolysis or underlying liver disease. These patients develop jaundice when subjected to fasting, stress and exercise. Majority of anaesthetics are metabolized by liver. Anaesthesia, surgery and cardiopulmonary bypass (CPB can act as triggers to hepatic injury. The successful perioperative management of an adult congenital heart disease patient for atrial septal defect closure under cardiopulmonary bypass was discussed in this report.

  2. A cardiac-specific health-related quality of life module for young adults with congenital heart disease: development and validation

    NARCIS (Netherlands)

    Kamphuis, M.; Zwinderman, K.A.H.; Vogels, T.; Vliegen, H.W.; Kamphuis, R.P.; Ottenkamp, J.; Verloove-Vanhorick, S.P.; Bruil, J.

    2004-01-01

    This study represents the development and validation of a cardiac-specific module of the generic health-related quality of life (HRQoL) instrument, the TAAQOL (TNO/AZL Adult Quality Of Life), for young adults with congenital heart disease (CHD). Items were selected based on literature, an explorativ

  3. Congenital Heart Disease and the Long Winding Road to Adulthood

    Science.gov (United States)

    ... article is to dis- cuss some of the twists and turns that young people with CHD may ... The Adult Congenital Heart Association. Reprinted from the spring 2007 issue of Heart Matters . doctor by yourself. ...

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

    OpenAIRE

    Stine Andersen; Asger Andersen; Jens Erik Nielsen-Kudsk

    2016-01-01

    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,...

  5. 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

  6. Cyanotic congenital heart disease

    International Nuclear Information System (INIS)

    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

  7. Genetic Counseling for Congenital Heart Defects

    Science.gov (United States)

    ... High Blood Pressure Tools & Resources Stroke More Genetic Counseling for Congenital Heart Defects Updated:Oct 26,2015 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

  8. Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1995-01-01

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

  9. The right side in congenital heart disease

    OpenAIRE

    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 patients with CHD are at risk of complications. This thesis focused on the right sided complications often seen in patients with CHD, the implications on survival, the various treatment options availa...

  10. Mortality Resulting From Congenital Heart Disease Among Children and Adults in the United States, 1999 to 2006

    Science.gov (United States)

    Gilboa, Suzanne M.; Salemi, Jason L.; Nembhard, Wendy N.; Fixler, David E.; Correa, Adolfo

    2016-01-01

    Background Previous reports suggest that mortality resulting from congenital heart disease (CHD) among infants and young children has been decreasing. There is little population-based information on CHD mortality trends and patterns among older children and adults. Methods and Results We used data from death certificates filed in the United States from 1999 to 2006 to calculate annual CHD mortality by age at death, race-ethnicity, and sex. To calculate mortality rates for individuals ≥1 year of age, population counts from the US Census were used in the denominator; for infant mortality, live birth counts were used. From 1999 to 2006, there were 41 494 CHD-related deaths and 27 960 deaths resulting from CHD (age-standardized mortality rates, 1.78 and 1.20 per 100 000, respectively). During this period, mortality resulting from CHD declined 24.1% overall. Mortality resulting from CHD significantly declined among all race-ethnicities studied. However, disparities persisted; overall and among infants, mortality resulting from CHD was consistently higher among non-Hispanic blacks compared with non-Hispanic whites. Infant mortality accounted for 48.1% of all mortality resulting from CHD; among those who survived the first year of life, 76.1% of deaths occurred during adulthood (≥18 years of age). Conclusions CHD mortality continued to decline among both children and adults; however, differences between race-ethnicities persisted. A large proportion of CHD-related mortality occurred during infancy, although significant CHD mortality occurred during adulthood, indicating the need for adult CHD specialty management. PMID:21098447

  11. Adult patients with pulmonary arterial hypertension due to congenital heart disease: a review on advanced medical treatment with bosentan

    Directory of Open Access Journals (Sweden)

    Mark J Schuuring

    2010-08-01

    treatment for adults with CHD-PAH. This review focuses on bosentan in CHD-PAH. In particular, we discuss outcome of various clinical trials and compare efficacy and safety of bosentan to other advanced therapies.Keywords: pulmonary arterial hypertension, bosentan, endothelin-1 receptor antagonist, congenital heart disease

  12. Transition is the Change from Pediatric Medicine to Adult Medicine by the Example of Congenital Heart Disease. Epidemiology and Health Care

    Directory of Open Access Journals (Sweden)

    Schmaltz А.А.

    2012-03-01

    Full Text Available Owing to significant medical progress in the last decades, at present there are more adults with congenital heart disease (CHD than children and adolescents. The three cardiac scientific societies — Deutsche Gesellschaft für Kardiologie — DGK (German Society of Cardiology, Deutsche Gesellschaft für Pädiatrische Kardiologie — DGPK (German Society of Pediatric Cardiology and Deutsche Gesellschaft für Thorax-, Herz- und Gefüchirurgie — DGTHG (German Society for Thoracic and Cardiovascular Surgery — have taken this fact into consideration and developed the statement of an integrated medical care of adult patients with CHD, the curriculum of post-doctoral education of pediatric and adult cardiologists and medical guidelines for diagnosis and therapy of CHD patients. The certification of adult CHD physicians and interregional centers of CHD in adults have been started. The approach enables to smooth the transition of CHD patients from children group to adult age group.

  13. Risk Factors for Increased Hospital Resource Utilization and In-Hospital Mortality in Adults With Single Ventricle Congenital Heart Disease.

    Science.gov (United States)

    Collins, Ronnie Thomas; Doshi, Pratik; Onukwube, Jennifer; Fram, Ricki Y; Robbins, James M

    2016-08-01

    Most patients with single ventricle congenital heart disease are now expected to survive to adulthood. Co-morbid medical conditions (CMCs) are common. We sought to identify risk factors for increased hospital resource utilization and in-hospital mortality in adults with single ventricle. We analyzed data from the 2001 to 2011 Nationwide Inpatient Sample database in patients aged ≥18 years admitted to nonteaching general hospitals (NTGHs), TGHs, and pediatric hospitals (PHs) with either hypoplastic left heart syndrome, tricuspid atresia or common ventricle. National estimates of hospitalizations were calculated. Elixhauser CMCs were identified. Length of stay (LOS), total hospital costs, and effect of CMCs were determined. Age was greater in NTGH (41.5 ± 1.3 years) than in TGH (32.8 ± 0.5) and PH (25.0 ± 0.6; p <0.0001). Adjusted LOS was shorter in NTGH (5.6 days) than in PH (9.7 days; p <0.0001). Adjusted costs were higher in PH ($56,671) than in TGH ($31,934) and NTGH ($18,255; p <0.0001). CMCs are associated with increased LOS (p <0.0001) and costs (p <0.0001). Risk factors for in-hospital mortality included increasing age (odds ratio [OR] 5.250, CI 2.825 to 9.758 for 45- to 64-year old vs 18- to 30-year old), male gender (OR 2.72, CI 1.804 to 4.103]), and the presence of CMC (OR 4.55, CI 2.193 to 9.436) for 2 vs none). No differences in mortality were found among NTGH, TGH, and PH. Cardiovascular procedures were more common in PH hospitalizations and were associated with higher costs and LOS. CMCs increase costs and mortality. In-hospital mortality is increased with age, male gender, and the presence of hypoplastic left heart syndrome. PMID:27291967

  14. Effects of iloprost combined with low dose tadalafil in adult congenital heart disease patients with severe pulmonary arterial hypertension: a single-center,open-label controlled study

    Institute of Scientific and Technical Information of China (English)

    张曹进

    2014-01-01

    Objective To evaluate the therapy efficacy of iloprost combined with low dose tadalafil in adult congenital heart disease(CHD)patients with severe pulmonary arterial hypertension(PAH).Methods Adult CHD patients with severe PAH were included and divided into the sequential combination therapy group[iloprost:10μg/inhalation,6 times per day for 6 months,and then add oral tadalafil(5 mg/d)till 12 months,n=32]and upfront combination therapy group[iloprost:10μg/inhalation,6 times per day combined with oral tadalafil(5 mg)

  15. Cross-sectional imaging of the Fontan circuit in adult congenital heart disease

    International Nuclear Information System (INIS)

    The Fontan circuit is the result of a palliative surgical procedure that is performed in patients with a functionally single ventricle cardiac anomaly. The success of this operation has resulted in an increasing population of adults with this anatomy and physiology. The purpose of this article is to familiarize the general radiologist with the expected anatomy and cross-sectional imaging findings, highlight special imaging considerations, and examine the common complications that are encountered in this group of patients

  16. The changing epidemiology of congenital heart disease

    NARCIS (Netherlands)

    T. van der Bom; A.C. Zomer; A.H. Zwinderman; F.J. Meijboom; B.J. Bouma; B.J.M. Mulder

    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 failur

  17. Congenital Heart Defects and Physical Activity

    Science.gov (United States)

    ... Tools & Resources Stroke More Congenital Heart Defects and Physical Activity Updated:Apr 19,2016 Exercise Is for Everyone ... almost all patients do some form of regular physical activity. There are a few exceptions, so it's good ...

  18. Congenital bronchoesophageal fistula in adults

    Institute of Scientific and Technical Information of China (English)

    Bao-Shi Zhang; Nai-Kang Zhou; Chang-Hai Yu

    2011-01-01

    AIM: To study the clinical characteristics, diagnosis and surgical treatment of congenital bronchoesophageal fistulae in adults. METHODS: Eleven adult cases of congenital bronchoesophageal fistula diagnosed and treated in our hospital between May 1990 and August 2010 were reviewed. Its clinical presentations, diagnostic methods, anatomic type, treatment, and follow-up were recorded. RESULTS: Of the chief clinical presentations, nonspecific cough and sputum were found in 10 (90.9%), recurrent bouts of cough after drinking liquid food in 6 (54.6%), hemoptysis in 6 (54.6%), low fever in 4 (36.4%), and chest pain in 3 (27.3%) of the 11 cases, respectively. The duration of symptoms before diagnosis ranged 5-36.5 years. The diagnosis of congenital bronchoesophageal fistulae was established in 9 patients by barium esophagography, in 1 patient by esophagoscopy and in 1 patient by bronchoscopy, respectively. The congenital bronchoesophageal fistulae communicated with a segmental bronchus, a main bronchus, and an intermediate bronchus in 8, 2 and 1 patients, respectively. The treatment of congenital bronchoesophageal fistulae involved excision of the fistula in 10 patients or division and suturing in 1 patient. The associated lung lesion was removed in all patients. No long-term sequelae were found during the postoperative follow-up except in 1 patient with bronchial fistula who accepted reoperation before recovery. CONCLUSION: Congenital bronchoesophageal fistula is rare in adults. Its most useful diagnostic method is esophagography. It must be treated surgically as soon as the diagnosis is established.

  19. Energy expenditure in congenital heart disease.

    OpenAIRE

    Barton, J S; Hindmarsh, P C; Scrimgeour, C M; Rennie, M J; Preece, M A

    1994-01-01

    Growth failure is a well recognised consequence of severe congenital heart disease. Total daily energy expenditure (TDEE) was investigated in eight infants with severe congenital heart disease to determine whether an increase in this parameter is an important factor in their failure to thrive, and to estimate the energy intake that would be required to allow normal growth. The infants were studied over a seven day period before surgery using the doubly labelled water method. Growth failure wa...

  20. 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

    2016-09-01

    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 article, 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

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

    International Nuclear Information System (INIS)

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

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

    Science.gov (United States)

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

    2015-01-01

    Due to advances in cardiac surgery, survival of patients with congenital heart disease has increased considerably during the past decades. Many of these patients require repeated cardiovascular magnetic resonance imaging to assess cardiac anatomy and function. In the past decade, technological advances have enabled faster and more robust cardiovascular magnetic resonance with improved image quality and spatial as well as temporal resolution. This review aims to provide an overview of advances in cardiovascular magnetic resonance hardware and acquisition techniques relevant to both pediatric and adult patients with congenital heart disease and discusses the techniques used to assess function, anatomy, flow and tissue characterization. PMID:25552386

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-01-01

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

  4. 3D Echo systematically underestimates right ventricular volumes compared to cardiovascular magnetic resonance in adult congenital heart disease patients with moderate or severe RV dilatation

    Directory of Open Access Journals (Sweden)

    Crean Andrew M

    2011-12-01

    Full Text Available Abstract Background Three dimensional echo is a relatively new technique which may offer a rapid alternative for the examination of the right heart. However its role in patients with non-standard ventricular size or anatomy is unclear. This study compared volumetric measurements of the right ventricle in 25 patients with adult congenital heart disease using both cardiovascular magnetic resonance (CMR and three dimensional echocardiography. Methods Patients were grouped by diagnosis into those expected to have normal or near-normal RV size (patients with repaired coarctation of the aorta and patients expected to have moderate or worse RV enlargement (patients with repaired tetralogy of Fallot or transposition of the great arteries. Right ventricular end diastolic volume, end systolic volume and ejection fraction were compared using both methods with CMR regarded as the reference standard Results Bland-Altman analysis of the 25 patients demonstrated that for both RV EDV and RV ESV, there was a significant and systematic under-estimation of volume by 3D echo compared to CMR. This bias led to a mean underestimation of RV EDV by -34% (95%CI: -91% to + 23%. The degree of underestimation was more marked for RV ESV with a bias of -42% (95%CI: -117% to + 32%. There was also a tendency to overestimate RV EF by 3D echo with a bias of approximately 13% (95% CI -52% to +27%. Conclusions Statistically significant and clinically meaningful differences in volumetric measurements were observed between the two techniques. Three dimensional echocardiography does not appear ready for routine clinical use in RV assessment in congenital heart disease patients with more than mild RV dilatation at the current time.

  5. AIR TRAVEL FOR INFANTS WITH CONGENITAL HEART DISEASE

    Directory of Open Access Journals (Sweden)

    Adarsh Patil

    2015-01-01

    Full Text Available INTRODUCTION : It is well documented that, healthy person can tolerate the cabin environment of a commercial airline which is pressurized to the level of 5000 ft. however this environment brings profound physiological changes in patients with cardiovascular dise a se. With rise in number of patients travelling internationally for treatment of cardiac problems especially infants travelling by air for congenital heart disease treatment has increased in the recent time and is evident by the reports of medical incidents involving infants with congenital heart disease onboard . (1 Though the IATA medical manual mentions that adult patients with Esenminger Syndrome should not undertake air travel . (2 This article examines the case for infants with congenital heart diseases as there have been no previous studies reported

  6. Indications for Heart Transplantation in Congenital Heart Disease

    OpenAIRE

    Siân Pincott, E; Burch, M

    2011-01-01

    In this review we have looked at indications for cardiac transplantation in congenital heart disease. An outline of the general principles of the use of transplant as a management strategy both as a first line treatment and following other surgical interventions is discussed. We explore the importance of the timing of patient referral and the evaluations undertaken, and how the results of these may vary between patients with congenital heart disease and patients with other causes of end-stage...

  7. Overweight predicts poorer exercise capacity in congenital heart disease patients

    OpenAIRE

    Karen Kuehl; Alicia Tucker; Munziba Khan; Paula Goldberg; E. Anne Greene; Megan Smith

    2015-01-01

    Background: Overweight (OW) and obesity (OB) are endemic in the United States and affect adolescents and adults with congenital heart disease (ACHD). Defining the burden of excess weight on the cardiovascular system in ACHD is the goal of this study. Limitation of exercise capacity due to overweight or obesity might be reversible with weight loss and improve quality of life for ACHD adults. Methods: Exercise tests performed using a Bruce protocol and measurement of maximum oxygen consumpti...

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

    NARCIS (Netherlands)

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

    2011-01-01

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

  9. Air pollution and congenital heart defects.

    Science.gov (United States)

    Agay-Shay, Keren; Friger, Michael; Linn, Shai; Peled, Ammatzia; Amitai, Yona; Peretz, Chava

    2013-07-01

    Environmental factors such as ambient air pollution have been associated with congenital heart defects. The aim of this study was to investigate the association between gestational exposure to air pollution and the risk of congenital heart defects. We conducted a registry-based cohort study with a total of 135,527 live- and still-births in the Tel-Aviv region during 2000-2006. We used a Geographic Information System-based spatiotemporal approach with weekly inverse distance weighting modeling to evaluate associations between gestational exposure to ambient air pollution during weeks 3-8 of pregnancy and the risk for congenital heart defects. The following pollutants were studied: carbon monoxide, nitrogen-dioxide, ozone, sulfur-dioxide and particulate matter with aerodynamic diameter smaller than 10 μm and 2.5 μm (PM10, PM2.5 respectively). Logistic models, adjusted for socio-demographic covariates were used to evaluate the associations. We found that maternal exposure to increased concentrations of PM10 was associated with multiple congenital heart defects (adjusted OR 1.05, 95% CI: 1.01 to 1.10 for 10 μg/m(3) increment). An inverse association was observed between concentrations of PM2.5 and isolated patent ductus arteriosus (adjusted OR 0.78, 95% CI: 0.68 to 0.91 for 5 µg/m(3) increment). Sensitivity analyses showed that results were consistent. Generally there were no evidence for an association between gaseous air pollutants and congenital heart defects.Our results for PM10 and congenital heart defects confirm results from previous studies. The results for PM2.5 need further investigations. PMID:23623715

  10. Paternal age and offspring congenital heart defects

    DEFF Research Database (Denmark)

    Su, Xiu Juan; Yuan, Wei; Huang, Guo Ying;

    2015-01-01

    Paternal age has been associated with offspring congenital heart defects (CHDs), which might be caused by increased mutations in the germ cell line because of cumulated cell replications. Empirical evidences, however, remain inconclusive. Furthermore, it is unknown whether all subtypes of CHDs are.......17-2.43). We observed similar results when subanalyses were restricted to children born to mothers of 27-30 years old. After taking into consideration of maternal age, our data suggested that advanced paternal age was associated with an increased prevalence of one subtype of offspring congenital heart defects...

  11. Diagnosis and treatment of congenital heart defects

    International Nuclear Information System (INIS)

    The Clinic for Congenital Heart Defects in Bad Oeynhausen, Germany, specializes in the interdisciplinary care of children and adolescents with congenital heart defects. The available expertise covers all aspects of diagnosis and treatment, as well as clinical research at the highest level. The clinic has a complete array of imaging systems, including a Philips Integris BV5000 Biplane cath lab system, Philips Gyroscan Intera CV MR system, ultrasound and PET systems. The range of available equipment makes it possible to select the most appropriate imaging modality for each situation, with particular reference to the need to minimize the overall radiation exposure. (orig.)

  12. Diagnosis and treatment of congenital heart defects

    Energy Technology Data Exchange (ETDEWEB)

    Peuster, M.; Beerbaum, P.; Meyer, H. [Ruhr-Universitaet Bochum, Bad Oeyenhausen (Germany). Herz- und Diabeteszentrum NRW

    2004-07-01

    The Clinic for Congenital Heart Defects in Bad Oeynhausen, Germany, specializes in the interdisciplinary care of children and adolescents with congenital heart defects. The available expertise covers all aspects of diagnosis and treatment, as well as clinical research at the highest level. The clinic has a complete array of imaging systems, including a Philips Integris BV5000 Biplane cath lab system, Philips Gyroscan Intera CV MR system, ultrasound and PET systems. The range of available equipment makes it possible to select the most appropriate imaging modality for each situation, with particular reference to the need to minimize the overall radiation exposure. (orig.)

  13. Recurrent congenital fibrosarcoma with heart metastases.

    Science.gov (United States)

    Lohi, Olli; Vornanen, Martine; Kähkönen, Marketta; Vettenranta, Kim; Parto, Katriina; Arola, Mikko

    2012-07-01

    Congenital fibrosarcomas are malignant tumors that arise in soft tissues. In infants this unique tumor does not commonly metastasize, even though there may be local recurrences. We report here a boy who had congenital fibrosarcoma in his right foot, which was completely excised at the age of 3 days. Four months later, a solitary encapsulated metastasis emerged in thoracic chest wall, which was operated. During adjuvant chemotherapy he developed histologically confirmed fibrosarcoma metastases in the heart. After extended treatment with cyclophosphamide/topotecan and gemcitabine/docetaxel, the heart tumors disappeared and he has been in complete remission for 3 years. PMID:22217490

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2012-05-15

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

  15. Diaphragmatic congenital hernia in adults

    International Nuclear Information System (INIS)

    Congenital diaphragmatic hernias in adults are a rare entity that is not yet published, in thoracic surgery books and there are only few reports in the world. It is a problem that requires a precise diagnostic and not delayed surgery because of its complications sometimes lethal. We present two cases treated in the Colombia national institute of cancer, with the diagnostic workup, the procedure and the literature review

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

    OpenAIRE

    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 in those with septal defects. A spectrum of cardiac defects is associated with PAH-CHD, although most cases develop as a consequence of large systemic-to-pulmonary shunts. Eisenmenger's syndrome, ch...

  17. Types of Congenital Heart Defects

    Science.gov (United States)

    ... Thus, the heart has to work harder to pump blood through the valve. Atresia (ah-TRE-ze-AH). ... right ventricle can get very overworked trying to pump blood to the pulmonary artery. These infants may have ...

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

    OpenAIRE

    Ineke Nederend; Jongbloed, Monique R. M.; de Geus, Eco J. C.; Blom, Nico A; Arend D. J. ten Harkel

    2016-01-01

    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...

  19. 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.)

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

    Institute of Scientific and Technical Information of China (English)

    Yiu-fai Cheung

    2014-01-01

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

  1. Computerized screening of children congenital heart diseases.

    Science.gov (United States)

    Sepehri, Amir A; Hancq, Joel; Dutoit, Thierry; Gharehbaghi, Arash; Kocharian, Armen; Kiani, A

    2008-11-01

    In this paper, we propose a method for automated screening of congenital heart diseases in children through heart sound analysis techniques. Our method relies on categorizing the pathological murmurs based on the heart sections initiating them. We show that these pathelogical murmur categories can be identified by examining the heart sound energy over specific frequency bands, which we call, Arash-Bands. To specify the Arash-Band for a category, we evaluate the energy of the heart sound over all possible frequency bands. The Arash-Band is the frequency band that provides the lowest error in clustering the instances of that category against the normal ones. The energy content of the Arash-Bands for different categories constitue a feature vector that is suitable for classification using a neural network. In order to train, and to evaluate the performance of the proposed method, we use a training data-bank, as well as a test data-bank, collectively consisting of ninety samples (normal and abnormal). Our results show that in more than 94% of cases, our method correctly identifies children with congenital heart diseases. This percentage improves to 100%, when we use the Jack-Knife validation method over all the 90 samples. PMID:18718691

  2. Quantification of left-to-right shunting in adult congenital heart disease: phase-contrast cine MRI compared with invasive oximetry.

    Science.gov (United States)

    Debl, K; Djavidani, B; Buchner, S; Heinicke, N; Poschenrieder, F; Feuerbach, S; Riegger, G; Luchner, A

    2009-05-01

    Atrial septum defects (ASDs), ventricular septum defects (VSDs) and patent ductus arteriosus (PDA) are the most common adult congenital heart defects. The degree of left-to-right shunting as assessed by the ratio of flow in the pulmonary (Qp) and systemic circulation (Qs) is crucial in the management of these conditions. This study compared phase-contrast cine magnetic resonance imaging (PC-MRI), a non-invasive imaging technique, with invasive oximetry for the measurement of shunt volumes during cardiac catheterisation in adults with left-to-right shunting. Both invasive oximetry and shunt quantification by PC-MRI (1.5 T scanner; Sonata, Siemens Medical Solutions) were performed on 21 patients with left-to-right shunting (14 ASD, 5 VSD, 2 PDA) and data on Qp/Qs ratios and left-to-right shunt fraction compared. Mean Qp/Qs ratios assessed by PC-MRI and oximetry were 2.10+/-0.76 and 1.96+/-0.77, respectively (p = 0.37). Mean shunt fraction was 46.3+/-19.6% when calculated by PC-MRI and 42.3+/-20.1% when obtained by oximetry (p = 0.12). There was a strong correlation of Qp/Qs ratios and shunt fraction between both methods (r = 0.61, p or =1.5:1 were 93% and 100% at a PC-MRI threshold of a Qp/Qs ratio > or =1.75:1 (area under curve (AUC) = 0.99). Quantification of left-to-right shunting can be performed reliably and accurately by PC-MRI and the data obtained by this method correlate closely to those from invasive oximetry. PMID:19153187

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

    OpenAIRE

    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, ...

  4. 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.  

  5. Nutrition in neonatal congenital heart disease

    OpenAIRE

    Morgan CT; Shine AM; McMahon CJ

    2013-01-01

    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...

  6. Nutrition in neonatal congenital heart disease

    OpenAIRE

    McMahon, Colin

    2013-01-01

    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 cardiopulmona...

  7. Evaluation of neonates with congenital heart disease

    OpenAIRE

    Tokel, Kürşad; Saygılı, Arda; Mercan, Şükrü; Varan, Birgül; Gürakan, Berkan; Aşlamacı, Sait

    2001-01-01

    From April 1995 to June 1999 190 neonates with congenital heart disease underwent medical interventional and surgical treatment in our institution The symptoms physical findings and cardiac diagnoses of patients were retrospectively analysed in four age groups according to age at admission: before 3 days 3 14 days 14 28 days and 28 42 days The results of interventional catheterization medical and surgical treatment and complications were also investigated The mean age at admission was 19 2 ± ...

  8. Virtual Surgery in Congenital Heart Disease

    DEFF Research Database (Denmark)

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

    2014-01-01

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

  9. 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.

  10. Congenital heart disease and chromossomopathies detected by the karyotype

    OpenAIRE

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

    2014-01-01

    OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on. DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of les...

  11. [Real time 3D echocardiography in congenital heart disease].

    Science.gov (United States)

    Acar, P; Dulac, Y; Taktak, A; Villacèque, M

    2004-05-01

    The introduction of the 3D mode in echocardiography has led to its use in everyday clinical practice. One hundred and fifty real time 3D echocardiographic examinations were performed in 20 foetus, 110 children and 20 adults with various congenital heart lesions (shunts, valvular lesions, aortic diseases). The 4x matricial probe enables the instantaneous acquisition of transthoracic volumes. Four modes of 3D imaging were used: real time, total volume, colour Doppler and biplane. Quantitative measurements were performed at an outlying station. The feasibility of the method in the foetus, the child and the adult was respectively 90%, 99% and 85%. Real time 3D echocardiography did not affect the diagnoses made by standard echocardiography. The 3D imaging gave a more accurate description of atrial septal defects and congenital valvular lesions. Biplane imaging was decisive in the quantitative approach to aortic dilatation of Marfan's syndrome and in segmental analysis of the foetal heart. 3D colour Doppler imaging has been disappointing but the possibilities of volumic quantification of blood flow are very promising. The present limitations of the method are the inadequate resolution in the small child and the absence of quantitative measurement on the echograph. The facility of utilisation of the matricial probe should lead to routine usage of 3D echocardiography as with 2D and the Doppler modes. Its value should be decisive in many congenital cardiac lesions requiring surgery or interventional catheterisation. PMID:15214550

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

    NARCIS (Netherlands)

    E.H.M. van Rijen (Susan)

    2003-01-01

    markdownabstract__Abstract__ Adults with congenital heart disease form a rather new phenomenon. Improvements in surgical techniques over the last decades have lead to lower mortality rates for children born with a congenital heart disease, enabling more of them to grow into adulthood (Sparacino, 19

  13. Screening for Critical Congenital Heart Disease.

    Science.gov (United States)

    Oster, Matthew E; Kochilas, Lazaros

    2016-03-01

    Screening for critical congenital heart disease (CCHD) was added to the United States Recommended Uniform Screening Panel in 2011. Since that time, CCHD screening with pulse oximetry has become nearly universal for newborns born in the United States. There are various algorithms in use. Although the goal of the screening program is to identify children who may have CCHD, most newborns who have a low oxygen saturation will not have CCHD. Further study is needed to determine optimal guidelines for CCHD screening in special settings such as the neonatal intensive care unit, areas in high altitude, and home births. PMID:26876122

  14. Therapeutic Cardiac Catheterizations for Children with Congenital Heart Disease

    Science.gov (United States)

    Therapeutic Cardiac Catheterizations for Children with Congenital Heart Disease Introduction A therapeutic cardiac catheterization is a procedure performed to treat your child’s heart defect. A doctor will use special techniques and ...

  15. 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

  16. Risk factors predisposing to congenital heart defects

    International Nuclear Information System (INIS)

    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

  17. Risk factors predisposing to congenital heart defects

    Science.gov (United States)

    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

    Introduction: 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. Methods: 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. Results: 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. Conclusions: 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. PMID:21976868

  18. Aortopathy associated with congenital heart disease: A current literature review

    International Nuclear Information System (INIS)

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

  19. Aortopathy associated with congenital heart disease: A current literature review

    Directory of Open Access Journals (Sweden)

    Katrien Francois

    2015-01-01

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

  20. Aortopathy associated with congenital heart disease: a current literature review

    OpenAIRE

    Katrien Francois

    2015-01-01

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

  1. Computed tomography for imaging of pediatric congenital heart disease

    International Nuclear Information System (INIS)

    Congenital heart diseases are the most common congenital abnormalities of development. In general, echocardiography and cardiac catheter angiography are considered the gold standard for the evaluation of congenital heart disease. Cardiac magnetic resonance imaging has become an important supplementary imaging modality because of its ability to provide an accurate morphological and functional evaluation. The role of cardiac computed tomography in the imaging of patients with congenital heart disease is becoming increasingly more important due to the development of low radiation dose protocols and improvements in the spatial and temporal resolution. In the preoperative depiction and follow-up after surgical repair of congenital heart diseases, cardiac computed tomography provides detailed information of the heart, the venous and arterial pulmonary circulation as well as systemic arteries. This article reviews the technical aspects of cardiac CT and the modification of examination protocols according to the expected pathology and patient age. The potentials and limitations of the various radiation dose reduction strategies are outlined. (orig.)

  2. Incidence of congenital heart disease in Beijing, China

    Institute of Scientific and Technical Information of China (English)

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

    2009-01-01

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

  3. Effects of congenital heart disease on brain development

    OpenAIRE

    McQuillen, Patrick S.; Goff, Donna A.; Licht, Daniel J.

    2010-01-01

    Brain and heart development occurs simultaneously in the fetus with congenital heart disease. Early morphogenetic programs in each organ share common genetic pathways. Brain development occurs across a more protracted time-course with striking brain growth and activity-dependent formation and refinement of connections in the third trimester. This development is associated with increased metabolic activity and the brain is dependent upon the heart for oxygen and nutrient delivery. Congenital h...

  4. Pregnant women with congenital heart disease: cardiac, anesthetic and obstetrical implications.

    Science.gov (United States)

    Fernandes, Susan M; Arendt, Katherine W; Landzberg, Michael J; Economy, Katherine E; Khairy, Paul

    2010-03-01

    Remarkable advances in surgical and clinical management have resulted in survival to adulthood in the large majority of patients with congenital heart malformations, even with the most complex disease. Over 1 million adults with congenital heart disease currently live in the USA, approximately half of whom are women of childbearing age. Collectively, congenital malformations are the most common form of heart disease in pregnant women. Indeed, in North America, congenital defects are now the leading cause of maternal morbidity and mortality from heart disease. This article begins with a summary of cardiovascular changes during pregnancy and highlights key features in pre-pregnancy counseling, maternal cardiac and obstetric risk, and neonatal complications. Management issues regarding pregnancy and delivery are elaborated, including anesthesia considerations. While it is beyond the scope of this article to discuss particulars related to all forms of congenital heart disease, selected subtypes are detailed at greater length. In the absence of clinical trial evidence to inform the care of pregnant women with congenital heart disease, this article is inspired by the premise that knowledgeable multidisciplinary assessment and management provides the best opportunity to substantially improve outcomes for mother and baby. PMID:20222821

  5. 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.

  6. Right ventricular failure in congenital heart disease

    Directory of Open Access Journals (Sweden)

    Young Kuk Cho

    2013-03-01

    Full Text Available Despite developments in surgical techniques and other interventions, right ventricular (RV failure remains an important clinical problem in several congenital heart diseases (CHD. RV function is one of the most important predictors of mortality and morbidity in patients with CHD. RV failure is a progressive disorder that begins with myocardial injury or stress, neurohormonal activation, cytokine activation, altered gene expression, and ventricular remodeling. Pressure-overload RV failure caused by RV outflow tract obstruction after total correction of tetralogy of Fallot, pulmonary stenosis, atrial switch operation for transposition of the great arteries, congenitally corrected transposition of the great arteries, and systemic RV failure after the Fontan operation. Volume-overload RV failure may be caused by atrial septal defect, pulmonary regurgitation, or tricuspid regurgitation. Although the measurement of RV function is difficult because of many reasons, the right ventricle can be evaluated using both imaging and functional modalities. In clinical practice, echocardiography is the primary mode for the evaluation of RV structure and function. Cardiac magnetic resonance imaging is increasingly used for evaluating RV structure and function. A comprehensive evaluation of RV function may lead to early and optimal management of RV failure in patients with CHD.

  7. Three dimensional echocardiography in congenital heart defects

    Directory of Open Access Journals (Sweden)

    Shirali Girish

    2008-01-01

    Full Text Available Three dimensional echocardiography (3DE is a new, rapidly evolving modality for cardiac imaging. Important technological advances have heralded an era where practical 3DE scanning is becoming a mainstream modality. We review the modes of 3DE that can be used. The literature has been reviewed for articles that examine the applicability of 3DE to congenital heart defects to visualize anatomy in a spectrum of defects ranging from atrioventricular septal defects to mitral valve abnormalities and Ebstein′s anomaly. The use of 3DE color flow to obtain echocardiographic angiograms is illustrated. The state of the science in quantitating right and left ventricular volumetrics is reviewed. Examples of novel applications including 3DE transesophageal echocardiography and image-guided interventions are provided. We also list the limitations of the technique, and discuss potential future developments in the field.

  8. 3 tesla magnetic resonance imaging in children and adults with congenital heart disease; 3-Tesla-Magnetresonanztomographie zur Untersuchung von Kindern und Erwachsenen mit angeborenen Herzfehlern

    Energy Technology Data Exchange (ETDEWEB)

    Voges, I.; Hart, C.; Kramer, H.H.; Rickers, C. [Universitaetsklinikum Schleswig-Holstein, Klinik fuer angeborene Herzfehler und Kinderkardiologie, Kiel (Germany); Jerosch-Herold, M. [Harvard Medical School, Department of Radiology, Brigham and Women' s Hospital, Boston (United States); Helle, M. [Universitaetsklinikum Schleswig-Holstein, Institut fuer Neuroradiologie, Kiel (Germany)

    2010-09-15

    Cardiovascular magnetic resonance imaging (CMR) has become a routinely used imaging modality for congenital heart disease. A CMR examination allows the assessment of thoracic anatomy, global and regional cardiac function, blood flow in the great vessels and myocardial viability and perfusion. In the clinical routine cardiovascular MRI is mostly performed at field strengths of 1.5 Tesla (T). Recently, magnetic resonance systems operating at a field strengths of 3 T became clinically available and can also be used for cardiovascular MRI. The main advantage of CMR at 3 T is the gain in the signal-to-noise ratio resulting in improved image quality and/or allowing higher acquisition speed. Several further differences compared to MRI systems with lower field strengths have to be considered for practical applications. This article describes the impact of CMR at 3 T in patients with congenital heart disease by meanings of methodical considerations and case studies. (orig.) [German] Die kardiovaskulaere Magnetresonanztomographie (MRT) hat sich zu einer etablierten bildgebenden Methode zur Untersuchung von Patienten mit angeborenen Herzfehlern entwickelt. Sie erlaubt in einer einzigen Untersuchung die exakte Beurteilung von Anatomie, globaler und regionaler Funktion, Blutfluessen sowie der myokardialen Perfusion und Vitalitaet. In der klinischen Routine erfolgen die Untersuchungen zumeist bei einer Feldstaerke von 1,5 Tesla (T), mittlerweile gibt es jedoch Geraete und Bildgebungstechniken, die die kardiovaskulaere MRT auch bei 3 T ermoeglichen. Der wesentliche Vorteil der MRT bei 3 T ist das hoehere Signal-zu-Rausch-Verhaeltnis, das sowohl zu einer Verbesserung der Bildqualitaet als auch zu einer Verkuerzung der Untersuchungszeit genutzt werden kann. Darueber hinaus bestehen verschiedene andere Unterschiede gegenueber Systemen mit niedriger Feldstaerke, die im praktischen Einsatz beachtet werden muessen. Dieser Artikel beschreibt die Erfahrungen der 3-T-MRT fuer die

  9. Transcriptional atlas of cardiogenesis maps congenital heart disease interactome

    OpenAIRE

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

    2014-01-01

    Mammalian heart development is built on highly conserved molecular mechanisms with polygenetic perturbations resulting in a spectrum of congenital heart diseases (CHD). However, knowledge of cardiogenic ontogeny that regulates proper cardiogenesis remains largely based on candidate-gene approaches. Mapping the dynamic transcriptional landscape of cardiogenesis from a genomic perspective is essential to integrate the knowledge of heart development into translational applications that accelerat...

  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. 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.

  12. Cancer risk among patients with congenital heart defects

    DEFF Research Database (Denmark)

    Olsen, Morten; Garne, Ester; Sværke, Claus;

    2013-01-01

    OBJECTIVE: We aimed to assess cancer risk in congenital heart defect patients, with and without Down's syndrome, compared with the general population. METHODS: We identified all patients born and diagnosed with congenital heart defects from 1977 to 2008 using the Danish National Registry of...... Patients, covering all Danish hospitals. We compared cancer incidence in the congenital heart defect cohort with that expected in the general population (∼5.5 million) using the Danish Cancer Registry, and computed age- and gender-standardised incidence ratios. RESULTS: We identified 15,905 congenital...... heart defect patients, contributing a total of 151,172 person-years at risk; the maximum length of follow-up was 31 years (median 8 years). In all, 53 patients were diagnosed with cancer, including 30 female and 23 male patients (standardised incidence ratio = 1.63; 95% confidence interval: 1...

  13. Cardiac biomarkers in children with congenital heart disease

    Institute of Scientific and Technical Information of China (English)

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

    2015-01-01

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

  14. Hyperuricemia in Congenital Heart Diseases: True or Numbers

    OpenAIRE

    A Zavarehi; ATabib; M Meraji; P Nakhostin Davari; MY Arabi Mghadam; AA Shahmohamadi; SR Miri

    2006-01-01

    Background: Uric acid has been shown to be increased in congenital heart diseases (CHD) and Eisenmenger syndrome. The present study was undertaken to investigate the incidence of hyperuricemia, renal dysfunction and the exacerebrating factors in congenital heart diseases (CHD). Methods: We studied prospective cross sectionaly 500 patients, aged one month to 18 years. Blood for serum uric acid, hemoglobin (Hb), hamatocrit (Hct), arterial blood gas (ABG), blood urea nitrogen (BUN), creatinine (...

  15. Adultos com cardiopatia congênita submetidos à primeira cirurgia: prevalência e resultados em um hospital terciário Adults with congenital heart disease undergoing first surgery: prevalence and outcomes at a tertiary hospital

    Directory of Open Access Journals (Sweden)

    Gustavo Alves de Mello

    2012-12-01

    Full Text Available INTRODUÇÃO: O tratamento cirúrgico da cardiopatia congênita em adultos apresentou importante crescimento nos últimos anos. Contudo, ainda assim, o número de pacientes que atingem a idade adulta sem tratamento cirúrgico adequado permanece elevado. OBJETIVO: Avaliar os resultados hospitalares e diagnósticos dos pacientes adultos com cardiopatia congênita submetidos à primeira operação. MÉTODOS: Estudo retrospectivo, que analisou prontuários de pacientes operados para correção de cardiopatia congênita com idade maior ou igual a 18 anos. O critério de exclusão foi cirurgia para reoperação. Foi analisado o período entre dezembro de 2007 e dezembro de 2010, com inclusão de 79 pacientes. RESULTADOS: Os defeitos do septo atrial foram os mais prevalentes (53,1%, seguidos de comunicação interventricular (15,2%, coarctação da aorta (6,3% e canal atrioventricular parcial (6,3%. Treze (16,4% pacientes apresentavam doença associada adquirida e 14 pacientes (17,7%, congênita. Trinta e três (41,8% pacientes apresentavam hipertensão pulmonar. O tempo médio de internamento em UTI e hospitalar foi de 3,9 e 14,5 dias, respectivamente. Complicações ocorreram em 18 (22,8% pacientes, sendo as infecciosas as mais comuns. A mortalidade hospitalar foi de dois (2,5% pacientes. CONCLUSÃO: O tratamento da cardiopatia congênita em adultos como primeira cirurgia apresentou resultado bastante favorável. Contudo, em nossa série, houve maior tempo de internamento em UTI e hospitalar.INTRODUCTION: Surgical treatment of congenital heart disease in adults showed a significant growth in recent years. But even so, the number of patients who reach adulthood without adequate surgical treatment remains high. OBJECTIVE: To demonstrate the results and hospital diagnoses of adult patients with congenital heart disease underwent the first surgery. METHODS: A retrospective analysis of records of patients operated for correction of congenital heart

  16. The Right Heart in Congenital Heart Disease, Mechanisms and Recent Advances

    OpenAIRE

    Guihaire, Julien; Haddad, François; Mercier, Olaf; Murphy, Daniel J.; Wu, Joseph C; Fadel, Elie

    2012-01-01

    In patients with congenital heart disease, the right heart may support the pulmonary or the systemic circulation. Several congenital heart diseases primarily affect the right heart including Tetralogy of Fallot, transposition of great arteries, septal defects leading to pulmonary vascular disease, Ebstein anomaly and arrhythmogenic right ventricular cardiomyopathy. In these patients, right ventricular dysfunction leads to considerable morbidity and mortality. In this paper, our objective is t...

  17. Familial congenital heart disease in Bandung, Indonesia

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    Sri Endah Rahayuningsih

    2013-01-01

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

  18. Familial congenital heart disease in Bandung, Indonesia

    Directory of Open Access Journals (Sweden)

    Sri Endah Rahayuningsih

    2013-03-01

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

  19. Right Ventricular Adaptation in Congenital Heart Diseases

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    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.

  20. The use of MRI in congenital heart disease

    International Nuclear Information System (INIS)

    Early studies of the use of magnetic resonance imaging in patients with congenital heart disease have shown that the method has both strengths and weaknesses compared with two-dimensional echocardiography, which is the principle noninvasive technique used at present for these studies. MR image planes can be precisely oriented to any appropriate cardiac axis for optimum display. Because of uniformly high quality throughout a large image field, MR images are particularly well suited for evaluation of conditions which include anomalies of the great vessel (both arterial and venous) in older children and adults. The method appears to be sensitive in detection, localization, and sizing of atrial and ventricular septal defects. At present, MRI is less well adapted to studies of rapidly moving structures such as cardiac valves

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

    Science.gov (United States)

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

    2009-12-01

    Recognition of causes of pulmonary hypertension other than congenital heart disease is increasing in children. Diagnosis and treatment of any underlying cause of pulmonary hypertension is crucial for optimal management of pulmonary hypertension. This article discusses the available knowledge regarding several disorders associated with pulmonary hypertension in children: idiopathic pulmonary arterial hypertension (IPAH), pulmonary capillary hemangiomatosis, pulmonary veno-occlusive disease, hemoglobinopathies, hepatopulmonary syndrome, portopulmonary hypertension and HIV. Three classes of drugs have been extensively studied for the treatment of IPAH in adults: prostanoids (epoprostenol, treprostinil, iloprost, beraprost), endothelin receptor antagonists (bosentan, sitaxsentan, ambrisentan), and phosphodiesterase inhibitors (Sildenafil, tadalafil). These medications have been used in treatment of children with pulmonary arterial hypertension, although randomized clinical trial data is lacking. As pulmonary vasodilator therapy in certain diseases may be associated with adverse outcomes, further study of these medications is needed before widespread use is encouraged. PMID:21852894

  2. Pancreatic Agenesis with Congenital Diaphragmatic Hernia and Congenital Heart Disease: A Case Report

    OpenAIRE

    Atsushi Nakao; Tomohiro Takeda; Yoshiya Hisaeda; Atsushi Hirota; Syusuke Amagata; Yuko Sakurai; Tadashi Kawakami

    2013-01-01

    Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus). Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceri...

  3. The application of transcatheter closure procedure in congenital heart diseases

    International Nuclear Information System (INIS)

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

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

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    B.J.M. Mulder

    2010-12-01

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

  5. Congenital heart defects in children with oral clefts

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    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.

  6. Congenital heart disease screening: which referral factors are most important

    International Nuclear Information System (INIS)

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

  7. Common Tests for Congenital Heart Defects

    Science.gov (United States)

    ... take clear pictures of the heart and measure heart function. The MRI uses painless magnet waves to evaluate the heart ... done instead of or in addition to the cardiac catheterization and angiogram. Your cardiologist will decide if you ... (Computerized Tomography) of the Heart The ...

  8. Risk factors for congenital heart diseases in Alexandria, Egypt

    International Nuclear Information System (INIS)

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

  9. Echocardiography for the Assessment of Congenital Heart Defects in Calves.

    Science.gov (United States)

    Mitchell, Katharyn Jean; Schwarzwald, Colin Claudio

    2016-03-01

    Congenital heart disease should be considered when evaluating calves with chronic respiratory signs, failure to thrive, poor growth, or if a murmur is heard on physical examination. Echocardiography is currently the gold standard for diagnosing congenital heart defects. A wide variety of defects, either alone or in combination with a ventricular septal defect, are possible. A standardized approach using sequential segmental analysis is required to fully appreciate the nature and severity of more complex malformations. The prognosis for survival varies from guarded to poor and depends on the hemodynamic relevance of the defects and the degree of cardiac compensation. PMID:26922111

  10. Significance of MR imaging in congenital heart disease

    International Nuclear Information System (INIS)

    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

  11. 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.

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

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    Mohamed Abdel Megied Abo El-Magd

    2013-04-01

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

  13. Pancreatic Agenesis with Congenital Diaphragmatic Hernia and Congenital Heart Disease: A Case Report

    Directory of Open Access Journals (Sweden)

    Atsushi Nakao

    2013-10-01

    Full Text Available Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus. Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceride -enriched formula. This is the first case of pancreatic agenesis with both malformations where the patient is discharged from the hospital. Early diagnosis and adequate treatments to compensate pancreatic function may prevent mortality and improve growth.

  14. Normoxic and Hyperoxic Cardiopulmonary Bypass in Congenital Heart Disease

    OpenAIRE

    2014-01-01

    Cyanotic congenital heart disease comprises a diverse spectrum of anatomical pathologies. Common to all, however, is chronic hypoxia before these lesions are operated upon when cardiopulmonary bypass is initiated. A range of functional and structural adaptations take place in the chronically hypoxic heart, which, whilst protective in the hypoxic state, are deleterious when the availability of oxygen to the myocardium is suddenly improved. Conventional cardiopulmonary bypass delivers hyperoxic...

  15. Diagnostic Value of Fetal Echocardiography for Congenital Heart Disease

    OpenAIRE

    Zhang, Ya-Fei; Zeng, Xian-Ling; Zhao, En-Fa; Lu, Hong-Wei

    2015-01-01

    Abstract Prenatal diagnosis of fetal congenital heart disease (CHD) has been shown to have a significant effect on prenatal and postnatal management and outcomes. However, the factors influencing the diagnostic accuracy and which pregnant trimester is the most adaptive for fetal heart disease remain uncertain despite of extensive researches. The aim of the present study was to evaluate the accuracy of echocardiography for detecting CHD and potential influence factors. We searched Chinese Biom...

  16. Accuracy of Pulse Oximetry in Children with Congenital Heart Disease.

    OpenAIRE

    Amoozgar, Hamid; Abbasi, Reza; Ajami, Gholam Hossein; BORZEE, Mohammad; Cheriki, Sirous; SOLTANI, Manuchehr

    2010-01-01

    Background: Detection of arterial oxygen saturation in pediatric patients with congenital heart disease (CHD) can be helpful for their management. Methods: We compared oxygen saturation and heart rate detected by pulse oximeter with the data of cardiac catheterization in order to determine the reliability and pitfalls of pulse oximetry (PO) in pediatric patients with CHD. 110 patients with different cyanotic and acyanotic CHD who were referred for right and left sided cardiac catheterizat...

  17. Management of pulmonary arterial hypertension associated with congenital heart disease.

    Science.gov (United States)

    Togănel, Rodica; Benedek, I; Suteu, Carmen; Blesneac, Cristina

    2007-01-01

    Congenital heart diseases are the most common congenital malformations and account for about eight cases per 1000 births and are often associated with pulmonary arterial hypertension. Increased shear stress and the excess flow through the pulmonary vascular bed due to a systemic-to-pulmonary shunt lead to the development of pulmonary vascular disease and an increase in pulmonary vascular resistance. Without surgical repair approximately 30% of patients develop pulmonary vascular disease. Eisenmenger syndrome represents the extreme end of pulmonary arterial hypertension with congenital heart disease. We summarized the current therapeutic options for pulmonary arterial hypertension; conventional treatments including calcium channel blockers, anticoagulation, digitalis, diuretics, and new treatment: prostacyclin, bosentan, sildenafil, ambrisentan. Preliminary data of new therapies are encouraging with disease significantly improved natural history, but there is need for more evidence-based data. PMID:18333354

  18. 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

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

    NARCIS (Netherlands)

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

    2015-01-01

    Due to advances in cardiac surgery, survival of patients with congenital heart disease has increased considerably during the past decades. Many of these patients require repeated cardiovascular magnetic resonance imaging to assess cardiac anatomy and function. In the past decade, technological advan

  20. Prepregnancy Diabetes and Offspring Risk of Congenital Heart Disease

    DEFF Research Database (Denmark)

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

    2016-01-01

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

  1. 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…

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

    Directory of Open Access Journals (Sweden)

    Togănel Rodica

    2013-04-01

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

  3. How Do We Define Congenital Heart Defects for Scientific Studies?

    DEFF Research Database (Denmark)

    Garne, Ester; Olsen, Morten Smærup; Johnsen, Søren Paaske;

    2011-01-01

    will increase overall mortality of CHD. The Danish Register of Congenital Heart Disease is based on hospital discharge diagnoses and diagnoses from outpatient visits. To increase the validity of these data, extensive data cleaning has been carried out based on record review and knowledge on the discharge coding...

  4. Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

    NARCIS (Netherlands)

    B. Thienpont; L. Zhang; A.V. Postma; J. Breckpot; L.C. Tranchevent; P. van Loo; K. Møllgård; N. Tommerup; I. Bache; Z. Tümer; K. van Engelen; B. Menten; G. Mortier; D. Waggoner; M. Gewillig; Y. Moreau; K. Devriendt; L.A. Larsen

    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

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

    OpenAIRE

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

    2009-01-01

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

  6. A cluster randomized trial of a transition intervention for adolescents with congenital heart disease: rationale and design of the CHAPTER 2 study

    OpenAIRE

    Mackie, Andrew S; Rempel, Gwen R; Kovacs, Adrienne H.; Kaufman, Miriam; Rankin, Kathryn N.; Jelen, Ahlexxi; Manlhiot, Cedric; Anthony, Samantha J.; Magill-Evans, Joyce; Nicholas, David; Sananes, Renee; Oechslin, Erwin; Dragieva, Dimi; Mustafa, Sonila; Williams, Elina

    2016-01-01

    Background The population of adolescents and young adults with congenital heart disease (CHD) is growing exponentially. These survivors are at risk of late cardiac complications and require lifelong cardiology care. However, there is a paucity of data on how to prepare adolescents to assume responsibility for their health and function within the adult health care system. Evidence-based transition strategies are required. Methods The Congenital Heart Adolescents Participating in Transition Eva...

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

    International Nuclear Information System (INIS)

    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.)

  8. CT of the congenital heart diseases

    International Nuclear Information System (INIS)

    Full text: The purpose of this lecture is to examine the role of MDCT in the diagnosis of congenital cardiac malformations - when and how to apply it, as well as some problematic aspects. Imaging methods to study their diversity play a leading role in the earliest diagnosis and treatment of congenital cardiovascular malformations in children and underwent tremendous development over the past two decades. Application of MDCT as noninvasive, fast and high-informative method was able to complement the gaps between echocardiography, cardiac catheterization and MRI with new information. Advantages of the method are: short time of the display, extensive anatomical space and ECG synchronized scanning with the possibility of simultaneous imaging of cardiovascular and pulmonary structures. MDCT modern techniques with advanced options for further processing of the images allow precise assessment of extracardiac vessels, lung and airways simultaneously Coronary Vessel, intracardiac structures and entricular functional parameters. The disadvantages of the method are related to the risk of ionizing radiation and contrast medium administration. Application of MDCT in the diagnosis of cardiovascular diseases in children requires excellent understanding of normal and pathological characteristics of CT images and an optimal application of the scanning techniques

  9. 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.

  10. 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.

  11. A method for accurate, non-destructive diagnosis of congenital heart defects from heart specimens

    OpenAIRE

    Schleich, Jean-Marc; Abdulla, Tariq; Houyel, Lucile; Paul, Jean-François; Summers, Ron; Dillenseger, Jean-Louis

    2013-01-01

    International audience The accurate analysis of congenital heart defect (CHD) specimens is often difficult and up to now required the opening of the heart. The objective of this study is to define a non-destructive method that allows for the precise analysis of each specimen and its different cardiac components in order to improve classification of the defect and thus provide an indication of underpinning causal mechanisms. We propose a method in which the heart volume is acquired by a CT ...

  12. Living with a Congenital Heart Defect

    Science.gov (United States)

    ... for people with CHD. I have always loved cycling; and in 2005, I completed my first endurance ... important to talk with a healthcare provider about diet and nutrition. Medications Some children and adults with ...

  13. 10.7.Congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    1993-01-01

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

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

    International Nuclear Information System (INIS)

    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

  15. 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.

  16. 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.

  17. Assessing the influence of consanguinity on congenital heart disease

    International Nuclear Information System (INIS)

    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

  18. Catheterization in congenital heart diseased patients with stage operation

    International Nuclear Information System (INIS)

    Objective: To explore the indications and clinical assessment for catheterization in congenital heart diseased patients with stage operation. Methods: Sixty five patients were selected from Apr. 1999 to Dec. 2002 undergoing second catheterization. 47 male, 18 females with age ranging from 5 months to 22 years old on average of 6.8 years. EKG, chest X-ray, ECHO, cardiovascular pressure and blood oxygen saturation were taken in all patients during the procedure. Results: According to the physiologic data recorded during the procedure of catheterization, 39 cases needed one more surgery, 9 cases for intervention, 4 cases would be placed with endovascular stent, 9 cases should be follow-up and 4 cases couldn't be operated again. Conclusions: Catheterization is not only offering the accurate physiologic data, but also revealing the details about anatomy with important information to the diagnosis and treatment for the congenital heart disease, especially for the stage-operation

  19. Cardiac CT angiography in children with congenital heart disease

    International Nuclear Information System (INIS)

    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

  20. Arrhythmia diagnosis and management throughout life in congenital heart disease.

    Science.gov (United States)

    Clark, Bradley C; Berul, Charles I

    2016-03-01

    Arrhythmias, covering bradycardia and tachycardia, occur in association with congenital heart disease (CHD) and as a consequence of surgical repair. Symptomatic bradycardia can occur due to sinus node dysfunction or atrioventricular block secondary to either unrepaired CHD or surgical repair in the area of the conduction system. Tachyarrhythmias are common in repaired CHD due to scar formation, chamber distension or increased chamber pressure, all potentially leading to abnormal automaticity and heterogeneous conduction properties as a substrate for re-entry. Atrial arrhythmias occur more frequently, but ventricular tachyarrhythmias may be associated with an increased risk of sudden cardiac death, notably in patients with repaired tetralogy of Fallot or aortic stenosis. Defibrillator implantation provides life-saving electrical therapy for hemodynamically unstable arrhythmias. Ablation procedures with 3D electroanatomic mapping technology offer a viable alternative to pharmacologic or device therapy. Advances in electrophysiology have allowed for successful management of arrhythmias in patients with congenital heart disease. PMID:26642231

  1. Grown Up Congenital Heart Diseases (GUCH): A Review

    OpenAIRE

    Bhuvnesh Kansara; Ajmer Singh

    2013-01-01

    The survival of children with congenital heart disease into adulthood has increased. These patients may require primary cardiac surgical repair, repair after prior palliation, revision of repair for residual lesion, or non-cardiac surgery. Preoperative cardiac evaluation consists of review of laboratory data, echocardiography, cardiac MRI, CT, cardiopulmonary exercise testing, arrhythmia monitoring, and cardiac catheterization. Perioperative complications are more frequently seen in high-risk...

  2. Implantable cardioverter-defibrillators in congenital heart disease

    OpenAIRE

    Chubb, H; Rosenthal, E

    2016-01-01

    Implantable cardioverter-defibrillators (ICD) have an important role in reducing sudden cardiac death in patients with congenital heart disease (CHD); however, the benefit of ICDs needs to be weighed up against both short-term and long-term adverse effects, which are difficult to evaluate in the heterogeneous CHD population. A tailored approach, taking into account risk stratification and patient-specific factors, is needed to select the most appropriate strategy. This review discusses primar...

  3. Fetal echo doppler for early detection of congenital heart block

    OpenAIRE

    Bergman, Gunnar

    2010-01-01

    Background: Fetal echo Doppler methods detecting prolonged atrioventricular (AV) time intervals, a mechanical PR interval corresponding to the electrical PR interval in ECG, have been proposed for surveillance of pregnancies at risk of complete congenital heart block (CCHB). The aim of this thesis was; to validate these Doppler methods by comparing AV time intervals from left ventricular inflow (MV), inflow and aortic outflow (MV-Ao) and superior vena cava and aortic flow ...

  4. Complex Genetics and the Etiology of Human Congenital Heart Disease

    OpenAIRE

    Gelb, Bruce D.; Wendy K Chung

    2014-01-01

    Congenital heart disease (CHD) is the most common birth defect. Despite considerable advances in care, CHD remains a major contributor to newborn mortality and is associated with substantial morbidities and premature death. Genetic abnormalities appear to be the primary cause of CHD but identifying precise defects has proven challenging, principally because CHD is a complex genetic trait. Due largely to recent advances in genomic technology such as next-generation DNA sequencing, scientists h...

  5. Human gene copy number spectra analysis in congenital heart malformations

    OpenAIRE

    Tomita-Mitchell, Aoy; Mahnke, Donna K.; Struble, Craig A; Tuffnell, Maureen E.; Stamm, Karl D.; Hidestrand, Mats; Harris, Susan E.; Goetsch, Mary A; Simpson, Pippa M; Bick, David P.; Broeckel, Ulrich; Pelech, Andrew N.; Tweddell, James S.; Mitchell, Michael E.

    2012-01-01

    The clinical significance of copy number variants (CNVs) in congenital heart disease (CHD) continues to be a challenge. Although CNVs including genes can confer disease risk, relationships between gene dosage and phenotype are still being defined. Our goal was to perform a quantitative analysis of CNVs involving 100 well-defined CHD risk genes identified through previously published human association studies in subjects with anatomically defined cardiac malformations. A novel analytical appro...

  6. Containing Costs in the Treatment of Congenital Heart Disease

    OpenAIRE

    Waldman, J. Deane; George, Lily; Lamberti, John J.; Lodge, Frederick A.; Pappelbaum, Stanley J.; Turner, Searle W.; Mathewson, James W.; Kirkpatrick, Stanley E.

    1984-01-01

    In the Congenital Heart Program at San Diego Children's Hospital, alterations in medical practice have reduced costs without impairing quality or access. Pediatric cardiac catheterization was done in 483 consecutive elective patients without overnight hospital stay. Hospital readmission was required in one patient for psoas tendinitis. Avoiding overnight hospital stay minimized attendant risks of hospital care, lessened psychosocial trauma and reduced the average hospital bill by $493 (29%). ...

  7. Role of Pulmonary Angiography in Congenital Heart Diseases among Children

    Directory of Open Access Journals (Sweden)

    Kavita U Vaishnav

    2013-08-01

    Full Text Available CT is a useful imaging modality for the morphologic evaluation of CHD. CT is useful in identifying different types of congenital anomalies of the cardiovascular system in children. It is essentially useful in the evaluation of vascular anomalies located outside the heart and in the assessment of complications that occur post operatively. [Natl J Med Res 2013; 3(4.000: 332-337

  8. 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.

  9. 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

  10. Prevalence of Dyslipidemia in Children with Congenital Heart Disease

    International Nuclear Information System (INIS)

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

  11. Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation.

    OpenAIRE

    Young, I D; Simpson, K.

    1987-01-01

    We present a female infant with (1) abnormal facies: microcephaly, blepharophimosis, small, low set, posteriorly rotated ears, bulbous nose, carp shaped mouth, micrognathia; (2) congenital heart abnormalities: large atrial and ventricular septal defects; (3) congenital hypothyroidism; (4) severe global retardation.

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

    OpenAIRE

    M.H. Hamadah; Kabbani, M; M.A. Faraji

    2016-01-01

    Ultrasound (US) assessment of renal anomalies in children requiring pediatric cardiac surgery is not a standard practice. This study aimed to study the role of bedside US performed by intensivists to detect occult renal anomalies associated with congenital heart disease (CHD). Prospective descriptive study for 100 consecutive children with CHD admitted to Pediatric Cardiac Intensive Care Unit (PCICU) from Januarry 1st, 2015 through June, July 2015. Ultrasound of kidneys was performed initiall...

  13. 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.

  14. Use of an Administrative Database to Determine Clinical Management and Outcomes in Congenital Heart Disease

    OpenAIRE

    Gutgesell, Howard P.; Hillman, Diane G.; McHugh, Kimberly E.; Dean, Peter; Matherne, G. Paul

    2011-01-01

    We review our 16-year experience using the large, multi-institutional database of the University HealthSystem Consortium to study management and outcomes in congenital heart surgery for hypoplastic left heart syndrome, transposition of the great arteries, and neonatal coarctation. The advantages, limitations, and use of administrative databases by others to study congenital heart surgery are reviewed.

  15. Congenital Heart Disease: How to Care for Your Baby and Yourself

    Science.gov (United States)

    MENU Return to Web version Congenital Heart Disease | How to Care for Your Baby and Yourself I was depressed when I found out my baby has a heart problem. ... a sick baby. Source Caring for Infants with Congenital Heart Disease and Their Families by RB Saenz, M.D., ...

  16. MESP1 Mutations in Patients with Congenital Heart Defects.

    Science.gov (United States)

    Werner, Petra; Latney, Brande; Deardorff, Matthew A; Goldmuntz, Elizabeth

    2016-03-01

    Identifying the genetic etiology of congenital heart disease (CHD) has been challenging despite being one of the most common congenital malformations in humans. We previously identified a microdeletion in a patient with a ventricular septal defect containing over 40 genes including MESP1 (mesoderm posterior basic helix-loop-helix transcription factor 1). Because of the importance of MESP1 as an early regulator of cardiac development in both in vivo and in vitro studies, we tested for MESP1 mutations in 647 patients with congenital conotruncal and related heart defects. We identified six rare, nonsynonymous variants not seen in ethnically matched controls and one likely race-specific nonsynonymous variant. Functional analyses revealed that three of these variants altered activation of transcription by MESP1. Two of the deleterious variants are located within the conserved HLH domain and thus impair the protein-protein interaction of MESP1 and E47. The third deleterious variant was a loss-of-function frameshift mutation. Our results suggest that pathologic variants in MESP1 may contribute to the development of CHD and that additional protein partners and downstream targets could likewise contribute to the wide range of causes for CHD. PMID:26694203

  17. Families of children with congenital heart disease: A literature review.

    Science.gov (United States)

    Wei, Holly; Roscigno, Cecelia I; Hanson, Cherissa C; Swanson, Kristen M

    2015-01-01

    In 2000 and 2002, the National Heart, Lung, and Blood Institute launched two initiatives to encourage treatment innovations and research on children with heart disease and their families. Since then, no systematic reviews have examined the evidence regarding the impacts of having a child with congenital heart disease (CHD) on families. This review synthesized key findings regarding families of children with CHD, critiqued research methods, described what has been done, and provided recommendations for future inquiry. Databases searched included PubMed, CINAHL, Family & Society Studies Worldwide, Women's Studies International, and PsycINFO. The literature search followed the PRISMA guidelines. As a result, ninety-four articles were reviewed. Four major themes were derived: parents' psychological health, family life, parenting challenges, and family-focused interventions. In conclusion, while they found parents having psychological symptoms, researchers did not explore parents' appraisals of what led to their symptoms. Research is needed to explore parents' experiences and expectations. PMID:26404115

  18. Three-dimensional MR imaging of congenital heart disease

    International Nuclear Information System (INIS)

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-02-15

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

  20. Cine magnetic resonance imaging in congenital heart disease

    International Nuclear Information System (INIS)

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

  1. Autoimmune congenital heart block: complex and unusual situations.

    Science.gov (United States)

    Brito-Zerón, P; Izmirly, P M; Ramos-Casals, M; Buyon, J P; Khamashta, M A

    2016-02-01

    Autoimmune congenital heart block (ACHB) is an immune-mediated cardiac disease included among the manifestations collectively referred to as neonatal lupus. The placental transference of maternal Ro/La autoantibodies may damage the conduction tissues during fetal development leading to blocking of signal conduction at the atrioventricular (AV) node in an otherwise structurally normal heart. Irreversible complete AV block is the main cardiac manifestation of ACHB, but some babies may develop endocardial fibroelastosis, valvular insufficiency, and/or frank cardiomyopathies with significantly reduced cardiac function requiring transplant. The severity of ACHB is illustrated by a global mortality rate of 20% and pacemaker rates of at least 64%, often within the first year of life. This review analyses the main complex and/or unusual clinical situations associated with ACHB, including unusual maternal immunological profiles, infrequent maternal autoimmune diseases, cardiac damage unrelated to AV block, fetal invasive management, late complications after birth, risk of congenital heart block (CHB) in ovodonation and in vitro fertilization techniques, the role of maternal features other than autoimmunity, the influence of the birth order or the risk of CHB in twins and triplets. PMID:26762645

  2. Congenital Heart Disease In Pediatric Patients: Recognizing The Undiagnosed And Managing Complications In The Emergency Department.

    Science.gov (United States)

    Judge Md, Pavan; Meckler Md Mshs, Garth

    2016-05-01

    Congenital heart disease is the most common form of all congenital malformations and, despite advances in prenatal and newborn screening, it may present undiagnosed to the emergency department. Signs and symptoms of congenital heart disease are variable and often nonspecific, making recognition and treatment challenging. Patient presentations can range from life-threatening shock or cyanosis in a neonate to respiratory distress or failure to thrive in infants. Advances in surgical techniques have improved short- and long-term survival of infants and children with congenital heart disease, but these children are at risk for a variety of complications related to the underlying or surgical anatomy and physiology. This review focuses on the recognition and initial management of patients with undiagnosed congenital heart disease presenting to the ED and touches on considerations for postoperative infants and children with complex congenital heart disease. PMID:27096879

  3. 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.

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

    International Nuclear Information System (INIS)

    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. (letter)

  5. Fetal echocardiographic screening in twins for congenital heart diseases

    Institute of Scientific and Technical Information of China (English)

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

    2007-01-01

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

  6. Congenital meningocoele presenting in an adult

    Directory of Open Access Journals (Sweden)

    Raghvendra V Ramdasi

    2014-01-01

    Full Text Available A 53-year-old male patient presented with low back pain radiating to both lower limbs for 2 years and urinary incontinence for 2 months. He had swelled over his lower back since birth. The neurological examination revealed a decreased perianal sensation. Local examination of the lumbar swelling showed a brilliantly transilluminant, cystic midline swelling in the lumbar area with underlying spina bifida. Magnetic resonance imaging revealed a low-lying conus at L3 level associated with spina bifida at L5 and a meningocoele sac. The patient underwent excision of the meningocoele and detethering of cord by extirpation of hypertrophied filum terminale. The patient had an immediate relief of his symptoms. At 3 month follow-up the lumbar wound had healed well, and there was a significant improvement in the perianal hypoesthesia. The adult presentation of a congenital meningocoele and spinal dysraphism is rare, especially in the fifth decade. The possible causes of this delayed presentation are analyzed, and the relevant literature on the subject is presented.

  7. Adult duodenal intussusception associated with congenital malrotation

    Institute of Scientific and Technical Information of China (English)

    2007-01-01

    Enteroenteric intussusception is a condition in which full-thickness bowel wall becomes telescoped into the lumen of distal bowel. In adults, there is usually an abnormality acting as a lead point, usually a Meckels' diverticulum, a hamartoma or a tumour. Duodenoduodenal intussusception is exceptionally rare because the retroperitoneal situation fixes the duodenal wall.The aim of this report is to describe the first published case of this condition. A patient with duodeno-duodenal intussusception secondary to an ampullary lesion is reported. A 66 year-old lady presented with intermittent abdominal pain, weight loss and anaemia. Ultrasound scanning showed dilated bile and pancreatic ducts.CT scanning revealed intussusception involving the full-thickness duodenal wall. The lead point was an ampullary villous adenoma. Congenital partial (type Ⅱ)malrotation was found at operation and this abnormality permitted excessive mobility of the duodenal wall such that intussusception was possible. This condition can be diagnosed using enhanced CT. Intussusception can be complicated by bowel obstruction, ischaemia or bleeding,and therefore the underlying cause should be treated as soon as possible.

  8. Complex Genetics and the Etiology of Human Congenital Heart Disease

    Science.gov (United States)

    Gelb, Bruce D.; Chung, Wendy K.

    2014-01-01

    Congenital heart disease (CHD) is the most common birth defect. Despite considerable advances in care, CHD remains a major contributor to newborn mortality and is associated with substantial morbidities and premature death. Genetic abnormalities appear to be the primary cause of CHD but identifying precise defects has proven challenging, principally because CHD is a complex genetic trait. Due largely to recent advances in genomic technology such as next-generation DNA sequencing, scientists have begun to identify the genetic variants underlying CHD. In this chapter, the roles of modifier genes, de novo mutations, copy number variants, common variants and non-coding mutations in the pathogenesis of CHD are reviewed. PMID:24985128

  9. Haploinsufficiency of TAB2 Causes Congenital Heart Defects in Humans

    OpenAIRE

    Thienpont, Bernard; Zhang, Litu; Postma, Alex V; Breckpot, Jeroen; Tranchevent, Léon-Charles; Van Loo, Peter; Møllgård, Kjeld; Tommerup, Niels; Bache, Iben; Tümer, Zeynep; van Engelen, Klaartje; Menten, Björn; Mortier, Geert; Waggoner, Darrel; Gewillig, Marc

    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 on 6q delineated a critical 850 kb region on 6q25.1 harboring five genes. Bioinformatics prioritization of candidate genes in this locus for a role in CHDs identified the TGF-β-activated kinase 1/M...

  10. Congenital Aortocaval Fistula from Right Subclavian Artery to Superior Vena Cava in an Adult with Tetralogy of Fallot

    Directory of Open Access Journals (Sweden)

    Soheila Chamanian

    2014-11-01

    Full Text Available Congenital   aortocaval   fistula in association with complex congenital heart disease has never been described before. We represent an adult with tetralogy of fallot and an undiagnosed subclavian artery to superior vena cava fistula in previous catheterisms. He underwent surgical correction, successfully. After 8 months post operation he was doing well with improved functional capacity and no cyanosis.

  11. 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.

  12. Potential effects of environmental chemical contamination in congenital heart disease.

    Science.gov (United States)

    Gorini, Francesca; Chiappa, Enrico; Gargani, Luna; Picano, Eugenio

    2014-04-01

    There is compelling evidence that prenatal exposures to environmental xenobiotics adversely affect human development and childhood. Among all birth defects, congenital heart disease (CHD) is the most prevalent of all congenital malformations and remains the leading cause of death. It has been estimated that in most cases the causes of heart defects remain unknown, while a growing number of studies have indicated the potential role of environmental agents as risk factors in CHD occurrence. In particular, maternal exposure to chemicals during the first trimester of pregnancy represents the most critical window of exposure for CHD. Specific classes of xenobiotics (e.g. organochlorine pesticides, organic solvents, air pollutants) have been identified as potential risk factors for CHD. Nonetheless, the knowledge gained is currently still incomplete as a consequence of the frequent heterogeneity of the methods applied and the difficulty in estimating the net effect of environmental pollution on the pregnant mother. The presence of multiple sources of pollution, both indoor and outdoor, together with individual lifestyle factors, may represent a further confounding element for association with the disease. A future new approach for research should probably focus on individual measurements of professional, domestic, and urban exposure to physical and chemical pollutants in order to accurately retrace the environmental exposure of parents of affected offspring during the pre-conceptional and pregnancy periods. PMID:24452958

  13. School Children with Congenital Heart Disease: Quality of Life and Policy Implications

    Science.gov (United States)

    Roberts, Jillian; Massie, Kendra; Mortimer, Tamara; Maxwell, Lani

    2005-01-01

    Congenital heart disease is one of the most common pediatric chronic illnesses that can have an impact on the lives of affected children and their families. Despite the growing number of school-age children who live with congenital heart disease, few researchers have investigated the lives and well-being of these children and their families. The…

  14. 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.…

  15. 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....

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

    OpenAIRE

    Mohindra R; Beebe David; Belani Kumar

    2002-01-01

    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 evaluat...

  17. Illustrated Imaging Essay on Congenital Heart Diseases: Multimodality Approach Part II: Acyanotic Congenital Heart Disease and Extracardiac Abnormalities.

    Science.gov (United States)

    Bhat, Venkatraman; Belaval, Vinay; Gadabanahalli, Karthik; Raj, Vimal; Shah, Sejal

    2016-06-01

    Acyanotic heart disease constitutes a significant majority of patient who may present with non-cardiac symptoms. Either they are detected incidentally or present with respiratory complaints. Equipped with knowledge of anatomy by echocardiography and radiographic methods described in previous part of this presentation, diagnosis may be confidently attempted. On plain radiography acyanotic congenital heart diseases have variable appearance depending upon severity of disease. Cardiac size, chamber enlargement and pulmonary vascular pattern are key elements. Typically left to right shunts with large volume flow are associated with pulmonary plethora. Plain radiography has an important role in detecting manifestation of pulmonary arterial hypertension. Severe stenosis of pulmonary valve is associated with pulmonary oligemia. Small intra-cardiac shunts and anomalies of coronary arteries generally present with normal cardiac size and pulmonary arterial pattern. Disease spectrum presented in this illustration demands thorough scrutiny of pulmonary, osseous and abdominal abnormalities. This section illustrates some commonly encountered spectrum of acyanotic cardiac disease. PMID:27504381

  18. Cardiovascular MRI in congenital heart disease. An imaging atlas

    International Nuclear Information System (INIS)

    This new and unique clinical resource offers rapid access to high-quality images covering a broad spectrum of paediatric and adult cardiac pathologies visualized using MRI and CT. Key images of each condition and a clear interpretation of their MR appearances allow for greater understanding of the pathology. Focus is given to the planning of imaging planes, techniques and sequences to obtain the best images and improve MR assessment. This text would benefit all health professionals involved in imaging congenital cardiac disease. (orig.)

  19. Cardiovascular MRI in congenital heart disease. An imaging atlas

    Energy Technology Data Exchange (ETDEWEB)

    Sridharan, Shankar; Price, Gemma; Tann, Oliver; Hughes, Marina; Muthurangu, Vivek; Taylor, Andrew M. [UCL Institute of Child Health and Great Ormond Street Hospital for Children, London (United Kingdom). Centre for Cardiovascular MR

    2010-07-01

    This new and unique clinical resource offers rapid access to high-quality images covering a broad spectrum of paediatric and adult cardiac pathologies visualized using MRI and CT. Key images of each condition and a clear interpretation of their MR appearances allow for greater understanding of the pathology. Focus is given to the planning of imaging planes, techniques and sequences to obtain the best images and improve MR assessment. This text would benefit all health professionals involved in imaging congenital cardiac disease. (orig.)

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

    International Nuclear Information System (INIS)

    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)

  1. Prognostic Value of Serum B-Type Natriuretic Peptide in Early Mortality and Morbidity of Children with Congenital Heart Disease after Open Heart Surgery

    Directory of Open Access Journals (Sweden)

    Nozar Givtaj

    2009-06-01

    Full Text Available Background: Brain type natriuretic peptide (BNP is a cardiac hormone that is secreted mainly by the ventricles in response to volume expansion and pressure load. It can predict post-operative complications after heart surgery in adults. We sought to investigate the prognostic value of BNP in children after heart surgery. Methods: We measured the BNP serum levels in 96 children with congenital heart diseases before, immediately after, and 12 hours after open heart surgery. We studied the ability of the post-operative BNP serum level variations to predict mortality and morbidity in children. Results: In total, 96 patients, comprising 40 (41.7% females and 56 (58.3% males with a mean age of 4.1 years (range: 1 month to 17 years, with various congenital heart diseases were studied. The rise in the serum BNP level 12 hours post surgery was directly related to mortality before discharge from hospital (P value=0.004, congestive heart failure after surgery (P value<0.001 , patients' cyanosis (P value=0.045, duration of ICU stay (r=0.342, P value=0.004, and post-operative need for inotropic drugs (P value<0.001. Conclusion: The rise in the BNP serum level 12 hours after heart surgery is a good marker for predicting mortality, morbidity, and early diagnosis of heart failure in children.

  2. The Role of Cardiovascular Magnetic Resonance in Pediatric Congenital Heart Disease

    OpenAIRE

    Taylor Andrew M; Hughes Marina L; Ntsinjana Hopewell N

    2011-01-01

    Abstract Cardiovascular magnetic resonance (CMR) has expanded its role in the diagnosis and management of congenital heart disease (CHD) and acquired heart disease in pediatric patients. Ongoing technological advancements in both data acquisition and data presentation have enabled CMR to be integrated into clinical practice with increasing understanding of the advantages and limitations of the technique by pediatric cardiologists and congenital heart surgeons. Importantly, the combination of ...

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

    Directory of Open Access Journals (Sweden)

    Mohindra R

    2002-01-01

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

  4. Bilateral diaphragmatic palsy after congenital heart surgery: management options.

    Science.gov (United States)

    Bhaskar, Pradeep; Lone, Reyaz A; Sallehuddin, Ahmad; John, Jiju; Bhat, Akhlaque N; Rahmath, Muhammed R K

    2016-06-01

    Diaphragmatic paralysis following phrenic nerve injury is a major complication following congenital cardiac surgery. In contrast to unilateral paralysis, patients with bilateral diaphragmatic paralysis present a higher risk group, require different management methods, and have poorer prognosis. We retrospectively analysed seven patients who had bilateral diaphragmatic paralysis following congenital heart surgery during the period from July, 2006 to July, 2014. Considerations were given to the time to diagnosis of diaphragm paralysis, total ventilator days, interval after plication, and lengths of ICU and hospital stays. The incidence of bilateral diaphragmatic paralysis was 0.68% with a median age of 2 months (0.6-12 months). There was one neonate and six infants with a median weight of 4 kg (3-7 kg); five patients underwent unilateral plication of the paradoxical diaphragm following recovery of the other side, whereas the remaining two patients who did not demonstrate a paradoxical movement were successfully weaned from the ventilator following recovery of function in one of the diaphragms. The median ventilation time for the whole group was 48 days (20-90 days). The median length of ICU stay was 46 days (24-110 days), and the median length of hospital stay was 50 days (30-116 days). None of the patients required tracheostomy for respiratory support and there were no mortalities, although all the patients except one developed ventilator-associated pneumonia. The outcome of different management options for bilateral diaphragmatic paralysis following surgery for CHD is discussed. PMID:26345716

  5. Genetics of congenital heart disease: the glass half empty.

    Science.gov (United States)

    Fahed, Akl C; Gelb, Bruce D; Seidman, J G; Seidman, Christine E

    2013-02-15

    Congenital heart disease (CHD) is the most common congenital anomaly in newborn babies. Cardiac malformations have been produced in multiple experimental animal models, by perturbing selected molecules that function in the developmental pathways involved in myocyte specification, differentiation, or cardiac morphogenesis. In contrast, the precise genetic, epigenetic, or environmental basis for these perturbations in humans remains poorly understood. Over the past few decades, researchers have tried to bridge this knowledge gap through conventional genome-wide analyses of rare Mendelian CHD families, and by sequencing candidate genes in CHD cohorts. Although yielding few, usually highly penetrant, disease gene mutations, these discoveries provided 3 notable insights. First, human CHD mutations impact a heterogeneous set of molecules that orchestrate cardiac development. Second, CHD mutations often alter gene/protein dosage. Third, identical pathogenic CHD mutations cause a variety of distinct malformations, implying that higher order interactions account for particular CHD phenotypes. The advent of contemporary genomic technologies including single nucleotide polymorphism arrays, next-generation sequencing, and copy number variant platforms are accelerating the discovery of genetic causes of CHD. Importantly, these approaches enable study of sporadic cases, the most common presentation of CHD. Emerging results from ongoing genomic efforts have validated earlier observations learned from the monogenic CHD families. In this review, we explore how continued use of these technologies and integration of systems biology is expected to expand our understanding of the genetic architecture of CHD. PMID:23410880

  6. Pheochromocytoma complicated by cyanotic congenital heart disease: a case report.

    Science.gov (United States)

    Yamamoto, Keiko; Namba, Noriyuki; Kubota, Takuo; Usui, Takeshi; Takahashi, Kunihiko; Kitaoka, Taichi; Fujiwara, Makoto; Hori, Yumiko; Kogaki, Shigetoyo; Oue, Takaharu; Morii, Eiichi; Ozono, Keiichi

    2016-04-01

    Coincidental cyanotic congenital heart disease and pheochromocytoma is uncommon, although some cases have been reported. We describe a girl aged 15 yr and 11 mo with pheochromocytoma and tricuspid atresia treated by performing the Fontan surgery. The patient did not have any specific symptoms of syndrome related to pheochromoytoma or a family history of pheochromocytoma. During cardiac catheterization, her blood pressure increased markedly, and an α-blocker was administered. Catecholamine hypersecretion was observed in the blood and urine, and abdominal computed tomography revealed a tumor in the right adrenal gland. Scintigraphy showed marked accumulation of (123)I-metaiodobenzylguanidine in the tumor, which led to a diagnosis of pheochromocytoma. We did not detect any germline mutations in the RET, VHL, SDHB, SDHD, TMEM127, or MAX genes. This patient had experienced mild systemic hypoxia since birth, which may have contributed to the development of pheochromocytoma. PMID:27212797

  7. Dental health and management for children with congenital heart disease.

    LENUS (Irish Health Repository)

    FitzGerald, Kirsten

    2012-02-01

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

  8. Genetic link between renal birth defects and congenital heart disease.

    Science.gov (United States)

    San Agustin, Jovenal T; Klena, Nikolai; Granath, Kristi; Panigrahy, Ashok; Stewart, Eileen; Devine, William; Strittmatter, Lara; Jonassen, Julie A; Liu, Xiaoqin; Lo, Cecilia W; Pazour, Gregory J

    2016-01-01

    Structural birth defects in the kidney and urinary tract are observed in 0.5% of live births and are a major cause of end-stage renal disease, but their genetic aetiology is not well understood. Here we analyse 135 lines of mice identified in large-scale mouse mutagenesis screen and show that 29% of mutations causing congenital heart disease (CHD) also cause renal anomalies. The renal anomalies included duplex and multiplex kidneys, renal agenesis, hydronephrosis and cystic kidney disease. To assess the clinical relevance of these findings, we examined patients with CHD and observed a 30% co-occurrence of renal anomalies of a similar spectrum. Together, these findings demonstrate a common shared genetic aetiology for CHD and renal anomalies, indicating that CHD patients are at increased risk for complications from renal anomalies. This collection of mutant mouse models provides a resource for further studies to elucidate the developmental link between renal anomalies and CHD. PMID:27002738

  9. 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.

  10. 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...... definitively confirm the role of this candidate gene in CHDs, we performed mutation analysis of TAB2 in 402 patients with a CHD, which revealed two evolutionarily conserved missense mutations. Finally, a balanced translocation was identified, cosegregating with familial CHD. Mapping of the breakpoints...... demonstrated that this translocation disrupts TAB2. Taken together, these data clearly demonstrate a role for TAB2 in human cardiac development....

  11. Pheochromocytoma complicated by cyanotic congenital heart disease: a case report

    Science.gov (United States)

    Yamamoto, Keiko; Namba, Noriyuki; Kubota, Takuo; Usui, Takeshi; Takahashi, Kunihiko; Kitaoka, Taichi; Fujiwara, Makoto; Hori, Yumiko; Kogaki, Shigetoyo; Oue, Takaharu; Morii, Eiichi; Ozono, Keiichi

    2016-01-01

    Abstract. Coincidental cyanotic congenital heart disease and pheochromocytoma is uncommon, although some cases have been reported. We describe a girl aged 15 yr and 11 mo with pheochromocytoma and tricuspid atresia treated by performing the Fontan surgery. The patient did not have any specific symptoms of syndrome related to pheochromoytoma or a family history of pheochromocytoma. During cardiac catheterization, her blood pressure increased markedly, and an α-blocker was administered. Catecholamine hypersecretion was observed in the blood and urine, and abdominal computed tomography revealed a tumor in the right adrenal gland. Scintigraphy showed marked accumulation of 123I-metaiodobenzylguanidine in the tumor, which led to a diagnosis of pheochromocytoma. We did not detect any germline mutations in the RET, VHL, SDHB, SDHD, TMEM127, or MAX genes. This patient had experienced mild systemic hypoxia since birth, which may have contributed to the development of pheochromocytoma. PMID:27212797

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

    International Nuclear Information System (INIS)

    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.

  13. 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.

  14. Oral contraceptive use and conotruncal congenital heart disease

    Directory of Open Access Journals (Sweden)

    Mars Nashrah Abdullah

    2014-11-01

    Full Text Available Background Congenital heart disease (CHD represents some of the more prevalent malformations among live births and remains the leading cause of death from congenital malformations. Conotruncal anomalies comprise a diverse group of CHD involving the outflow tracts of the heart and the great vessels. Oral contraceptive exposure before pregnancy may be one of the risk factors for conotruncal CHD. Objective To evaluate the effect of oral contraceptive use before pregnancy on the risk of conotruncal CHD in children. Methods A case-control study was conducted from July 2010 until July 2011 in Haji Adam Malik Hospital, Medan. Subjects with CHD were divided into two groups: conotruncal CHD as the case group and non-conotruncal CHD as the control group. Both groups had mothers with and without histories of oral contraceptive use before pregnancy. Parents were interviewed using questionnaires. Statistical analyses were performed using Chi-square test, student’s T-test, and Mann Whitney test. Results A total of 80 subjects were eligible, with 40 subjects in each group. The percentages of subjects whose mothers used oral contraceptives were 62% of the conotruncal CHD group and 60% of the non-conotruncal CHD group (OR 0.82; 95%CI 0.33 to 1.98. The mean duration of maternal oral contraceptive use before pregnancy was 19.1 months for the case group and 18.8 months for the control group (P=0.87. Conclusion In children with CHD, maternal oral contraceptive use before pregnancy does not appear to increase the risk of conotruncal CHD. [Paediatr Indones. 2014;54:309-13.].

  15. CLINICAL STUDY OF CONGENITAL HEART DISEASE IN INFANTS IN TERTIARY CARE HOSPITAL

    OpenAIRE

    Sandeep V.Harshangi; Laxmi Nagaraj Itagi; Venkatesh Patil; Vijayanath.V

    2013-01-01

    Congenital heart disease are primarily disease of neonates, infants and children. The burden of CHD in India is likely to be enormous due to very high birth rate. The reported incidence is 8-10/ 1000 live births. Objective was to know the pattern of clinical presentation of various congenital heart disease in 0-1 year age group. To study the different form of cyanotic and acyanotic congenital heart disease in present cases. 50 cases of CHD proven by 2D echocardiography were studied for 2 ye...

  16. I point my heart with the tip of my fingers - Biometry for the diagnosis of congenital heart defects

    OpenAIRE

    Abdulla, Tariq; Dillenseger, Jean-Louis; Summers, Ron; Paul, Jean-François; Houyel, Lucile; Schleich, Jean-Marc

    2013-01-01

    International audience Congenital heart defects are characterized by abnormal positioning of some anatomical structures relative to a normal heart. Classically the classification of the disease or the stage of the disease is based on the measurement of the relative position of these structures by the cardiac morphologist. We propose a method in which the heart volume is acquired by a CT scanner. In this paper we present a tool which allows us to define landmarks interactively in this heart...

  17. 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.)

  18. The impact of environmental factors on the occurrence of congenital heart disease in the form of hypoplastic left heart syndrome

    Science.gov (United States)

    Składzień, Tomasz; Skalski, Janusz Hieronim

    2015-01-01

    Introduction Congenital heart defects are the most common abnormalities in neonatal age. Congenital heart defects occur with a frequency of 3-12/1000 births. A special group is constituted by children with hypoplastic left heart syndrome because their treatment is extremely complex, requiring three-stage surgery and the involvement of various specialists. Material and methods We analysed 100 infants with congenital heart defects in the form of hypoplastic left heart syndrome (HLHS). They were compared with a control group of 100 newborns without structural heart defects. The children's parents were asked to fill out a questionnaire consisting of 10 simple questions. It had been constructed in consultation with a psychologist in order not to offend the feelings of the parents affected by the illness of their offspring. Results Congenital heart defects were present in the family medical histories of 16 HLHS children and 11 healthy children (p = 0.4). Genetic disorders were present in the family medical histories of 13 HLHS children and 15 healthy children (p = 0.73). In the HLHS group, the mothers smoked cigarettes or were exposed to tobacco smoke in 32% of cases; in the control group, this proportion amounted to 23% (p = 0.76). Conclusions The study found no relationship between the occurrence of hypoplastic left heart syndrome in children and the parents’ age, the presence of genetic disorders, or heart defects in the family medical histories. PMID:26702275

  19. Anesthesia for an Adult Patient with Congenital Diaphragmatic Eventration

    OpenAIRE

    Uysal, Hale Yarkan

    2007-01-01

    Congenital diaphragmatic eventration is an uncommon condition in adults and is defined as an abnormal elevation of the diaphragm. In adults, diaphragmatic eventration causes respiratory impairment that is associated with severe dyspnea, orthopnea and hypoxia. Most of the symptomatic patients may survive with supportive therapy without any need for surgical correction, though they are at risk of spontaneous diaphragm rupture. Spontaneous diaphragmatic rupture may develop in a patient with dia...

  20. Congenital lobar emphysema in an adult

    Directory of Open Access Journals (Sweden)

    Mir Sadaqat

    2011-01-01

    Full Text Available Congenital lobar emphysema (CLE is a clinico-radiological diagnosis, seen usually by four-six weeks of age (50% of patients and rarely (<5% of patients after the age of six months. Here, we report a young male with gradual onset of mild exertional breathlessness and physical examination revealing the features of right sided pneumothorax. X-ray of chest, with subsequent CT of chest, leads to the diagnosis of CLE. The pulmonary function tests, bronchoscopic examination and a1 -antitrypsin level are normal. Patient is managed conservatively.

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

    NARCIS (Netherlands)

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

    2009-01-01

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

  2. State-of-the-Art CT Imaging Techniques for Congenital Heart Disease

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo [Asan Medical Center, University of Ulsan College of Medicine, Seoul (Korea, Republic of)

    2010-02-15

    CT is increasingly being used for evaluating the cardiovascular structures and airways in the patients with congenital heart disease. Multi-slice CT has traditionally been used for the evaluation of the extracardiac vascular and airway abnormalities because of its inherent high spatial resolution and excellent air-tissue contrast. Recent developments in CT technology primarily by reducing the cardiac motion and the radiation dose usage in congenital heart disease evaluation have helped expand the indications for CT usage. Tracheobronchomalacia associated with congenital heart disease can be evaluated with cine CT. Intravenous contrast injection should be tailored to unequivocally demonstrate cardiovascular abnormalities. Knowledge of the state-of-the-art CT imaging techniques that are used for evaluating congenital heart disease is helpful not only for planning and performing CT examinations, but also for interpreting and presenting the CT image findings that consequently guide the proper medical and surgical management.

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

    OpenAIRE

    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.

  4. 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.

  5. CONGENITAL COMPLETE HEART BLOCK IN DOWN SYNDROME: A RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Vishwanath

    2015-06-01

    Full Text Available Down syndrome ( T risomy 21 is the commonest disorder among chromosomal anomalies having incidence of 1:650 – 1:1000 live births. [1] The clinical manifestations of Down syndrome are numerous and can present in any body system. Down association of congenital heart disease is well known. Among all cases of congenital heart diseases, 4% - 10% are with Down syndrome, and 40% - 60% of Down syndrome patients have congenital heart disease. The most common congenital cardiac anomaly in Down syndrome is Atrioventricular septal defects, followed by patent ductus arteriosus and atrial septal defects. Oth er forms of complex heart disease can occur including overriding aorta and Tetralogy of fallot. [2] The pure Conduction defect are very rare to have association with the Down syndrome and is not reported in infancy so far.

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

  7. Occurrence and pattern of congenital heart diseases in a rural area of sub-Saharan Africa

    OpenAIRE

    Tantchou Tchoumi, JC; Ambassa, JC; Butera, G; Giamberti, A; Sadeu, JC

    2011-01-01

    Summary The extent of congenital heart disease in Cameroon remains largely unknown. The aim of this study was to determine the occurrence and pattern of congenital heart diseases in the Cardiac Centre of St Elizabeth Catholic General Hospital, situated in a rural area of Cameroon. Methods Between November 2002 and November 2008, a population of 2 123 patients with suspected cardiac pathologies were consulted at St Elizabeth Catholic General Hospital referral cardiac centre. Of these patients,...

  8. De novo mutations in Congenital Heart Disease with Neurodevelopmental and Other Birth Defects

    OpenAIRE

    Homsy, Jason; Zaidi, Samir; Shen, Yufeng; Ware, James S.; Samocha, Kaitlin E; Karczewski, Konrad J.; DePalma, Steven R.; McKean, David; Wakimoto, Hiroko; Gorham, Josh; Jin, Sheng Chih; Deanfield, John; Giardini, Alessandro; Porter, George A.; Kim, Richard

    2015-01-01

    Congenital heart disease (CHD) patients have increased prevalence of extra-cardiac congenital anomalies (CA) and risk of neurodevelopmental disabilities (NDD). Exome sequencing of 1,213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in developing heart and brain. These mutations accounted for 20% of patients with CHD, NDD and CA but only 2% with isolated CHD. Mutations altered genes involved in morphogenesis, chromat...

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

    OpenAIRE

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

    2015-01-01

    Aim: 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. Materials and Methods: Data were collected retrospectively from 1158 patients who underwent surgery for congenital heart disease. Results: The overall incidence of JET...

  10. Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate

    OpenAIRE

    Shu, X.; Zou, C; Shen, Z

    2013-01-01

    A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve regurgitation. Further chromosomal analysis showed a karyotype of 48,XXY,+21: a double aneuploidy of...

  11. New York Heart Association class assessment by cardiologists and outpatients with congenital cardiac disease: a head-to-head comparison of three patient-based versions

    NARCIS (Netherlands)

    D. Schoormans; Y.L. Mager; F.J. Oort; M.A.G. Sprangers; B.J.M. Mulder

    2012-01-01

    Background: The objective of this study was to compare three patient-based New York Heart Association assessments with cardiologist assessments in outpatients with congenital cardiac disease. Methods: Consecutive adult outpatients completed three questionnaires in a random order: a patient-based tra

  12. 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

  13. 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.

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

    Science.gov (United States)

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

    2003-01-01

    To establish the prevalence of congenital heart diseases (CHDs) in cleft patients, the type of cleft and the presence of a syndrome were coded in 220 patients. A Doppler echocardiogram with color-flow mapping (DE) was obtained in all patients. Mean age was 112.0 +/- 101.2 months (range, 1-576 months), and 56.8% (125) were males. Cleft lip and palate occurred in 144 patients (65.5%), cleft lip in 40 (18.2%), and cleft palate in 36 (16.4%). Cleft palates were more frequent among females. Twenty-four CHDs were diagnosed in 21 of 220 patients (9.5%): 7 mitral valve prolapses, 6 atrial septal defects, 4 patent ductus arteriosus, 3 ventricular septal defects, 2 cases of tetralogy of Fallot, 1 pulmonary stenosis, and 1 bicuspid aortic valve. The presence of CHD did not correlate with the type of cleft. Syndromes occurred in 28 patients (12.7%), and this association was higher among patients with a cleft palate. PMID:12522651

  15. Lessons Learned From Newborn Screening for Critical Congenital Heart Defects.

    Science.gov (United States)

    Oster, Matthew E; Aucott, Susan W; Glidewell, Jill; Hackell, Jesse; Kochilas, Lazaros; Martin, Gerard R; Phillippi, Julia; Pinto, Nelangi M; Saarinen, Annamarie; Sontag, Marci; Kemper, Alex R

    2016-05-01

    Newborn screening for critical congenital heart defects (CCHD) was added to the US Recommended Uniform Screening Panel in 2011. Within 4 years, 46 states and the District of Columbia had adopted it into their newborn screening program, leading to CCHD screening being nearly universal in the United States. This rapid adoption occurred while there were still questions about the effectiveness of the recommended screening protocol and barriers to follow-up for infants with a positive screen. In response, the Centers for Disease Control and Prevention partnered with the American Academy of Pediatrics to convene an expert panel between January and September 2015 representing a broad array of primary care, neonatology, pediatric cardiology, nursing, midwifery, public health, and advocacy communities. The panel's goal was to review current practices in newborn screening for CCHD and to identify opportunities for improvement. In this article, we describe the experience of CCHD screening in the United States with regard to: (1) identifying the target lesions for CCHD screening; (2) optimizing the algorithm for screening; (3) determining state-level challenges to implementation and surveillance of CCHD; (4) educating all stakeholders; (5) performing screening using the proper equipment and in a cost-effective manner; and (6) implementing screening in special settings such as the NICU, out-of-hospital settings, and areas of high altitude. PMID:27244826

  16. Congenital Heart Defects in Twins: Occurrence and Prognosis

    DEFF Research Database (Denmark)

    Herskind, Anne Maria; Larsen, Lisbeth Aagaard; Pedersen, Dorthe Almind; Christensen, Kaare

    Introduction: We have recently shown that congenital heart defects (CHD) are more frequent in both MZ and DZ twins than in singletons (Herskind et al., Circulation 2013). The excess risk was also found for non-prematurity related defects and operated CHD. Here we assess the prognosis for CHD in......). Logistic regression analyses adjusted for sex, birth cohort, and twin dependence revealed that, in the first 28 days of life, CHD twins had significantly higher mortality than non-CHD twins generally (OR = 2.1, 95% CI [1.5–2.8]), though not compared to non-CHD co-twins (OR = 1.3, 95% CI [0.8–2.2]). Despite...... a 5.1 times higher proportion of prematurity (61.9% vs. 12.1%, p < .001), CHD twins had only moderately increased neonatal mortality compared to CHD singletons (OR = 1.6, 95% CI [0.97–2.6]). Cox regression analyses adjusted for sex, birth cohort, and twin dependence revealed that after the neonatal...

  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 be of...... importance. The aim of this study was to characterise the haemostatic profile and examine the potential role of haematocrit on clot formation and strength in CCHD patients. Furthermore to examine whether CCHD patients with history of haemoptysis have diminished fibrinogen function compared to those without...... haemoptysis. METHODS: In a prospective study 75 adult CCHD patients had haematocrit, platelet count, and plasma fibrinogen concentration examined. Furthermore thrombelastography(TEG) as well as TEG Functional Fibrinogen(TEG FF) assay evaluating fibrinogen function(FLEV) was performed. Data were compared with...

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

    International Nuclear Information System (INIS)

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

  19. Adult congenital cardiopathy: percutaneous treatment of a complex case

    International Nuclear Information System (INIS)

    Adult congenital cardiopathy is a clinical entity difficult to treat and diagnose. Since 1982 endovascular therapy changed its approach radically (1) and in the last years the design of new appliances and better balloon catheters facilitated the implementation of therapy to a greater number of patients (2). It is the election treatment for entities such as pulmonary valve stenosis (3), atrial septal defect (4) and persistent ductus arteriosus. We present the case of complex adult congenital cardiopathy that consisted of wide atrial septal defect,pulmonary valve stenosis with severe repercussion on the right ventricle, persistent PDA with severe calcification and pulmonary arterial hypertension and systemic essential arterial hypertension that were successfully treated through interventionist endovascular therapy in the Hospital Militar Central, in Bogota.

  20. Progressive pulmonary hypertension in cyanotic congenital heart disease with severe pulmonary stenosis

    OpenAIRE

    Cheung, YF; Leung, MP; Wang, EP

    1996-01-01

    We report the progressive development of pulmonary hypertension despite the presence of severe pulmonary stenosis in three patients with cyanotic congenital heart disease. The associated intracardiac lesions were complete transposition with a ventricular septal defect, double outlet right ventricle, and a heart with univentricular atrioventricular connection, respectively. Serial measurements on hemodynamics andhistological findings documented the progression of pulmonary hypertension and pul...

  1. Adult duodenal intussusception associated with congenital malrotation

    OpenAIRE

    Gardner-Thorpe, J; Hardwick, RH; Carroll, NR; Gibbs, P.; Jamieson, NV; Praseedom, RK

    2007-01-01

    Enteroenteric intussusception is a condition in which full-thickness bowel wall becomes telescoped into the lumen of distal bowel. In adults, there is usually an abnormality acting as a lead point, usually a Meckels' diverticulum, a hamartoma or a tumour. Duodeno-duodenal intussusception is exceptionally rare because the retroperitoneal situation fixes the duodenal wall. The aim of this report is to describe the first published case of this condition. A patient with duodeno-duodenal intussusc...

  2. 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

  3. Determination of the prevalence of congenital heart disease in the patients admitted to the heart clinic

    Institute of Scientific and Technical Information of China (English)

    Shokoufeh Ahmadipour; Behzad Mohammadpour Ahranjani; Sara Daeichin; Zahra Mirbeig Sabzevari

    2015-01-01

    Objective:To investigate the prevalence of congenital heart disease (CHD) among the patients who refferred to the heart clinic so as to make an early and correct diagnosis. Methods: In this descriptive-cross sectional study, all the patients admitted to the heart clinic who had symptoms or signs ofCHDwere included. The data were collected in one year based on the medical records. The main variables consisted of age, gender, history of folic acid consumption by the mother in pregnancy, clinical signs, symptoms and so on. Results: Among the 763 admitted patients, 498 were males and the rest were females. Infants were the most common group and teenagers were the least one. The most common findings for which the patients had been referred were chest pain and a murmur heard during a normal physical examination. Based on the echocardiography findings, ventricular and atrial septal defects were the most common ones. The history of folic acid consumption was negative in 168 mothers within their pregnancy. Conclusions: Since the causes and risk factors in the incidence ofCHD in children are numerous, we recommended that the information about these diseases should be given to the community and strengthen the referral system, design registration system ofCHD set up in the country round.

  4. Successful heart transplantation from a donor with Ullrich congenital muscular dystrophy

    OpenAIRE

    Plonka, Caitlyn; Wearden, Peter D.; Morell, Victor O.; Miller, Steven A.; Webber, Steven A.; Feingold, Brian

    2013-01-01

    Heart transplantation is the most effective therapy for children with end-stage heart disease; however, its use is limited by the number of donor organs available. This shortage may be further compounded by concerns about organ quality, leading to refusal of potential donor organ offers. We report on the successful transplantation and 5 year follow-up of a heart from a donor with Ullrich congenital muscular dystrophy (UCMD). The candidate was critically ill at the time of th...

  5. 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.

  6. 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.

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

    International Nuclear Information System (INIS)

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

  8. Evaluation of PTC in diagnosing congenital choledochol cyst for adult

    International Nuclear Information System (INIS)

    Objective: To evaluate the diagnostic value of PTC for congenital choledochol cyst in adult. Methods: 15 cases of congenital choledochol cyst were revealed by B-mode US and PTC with some of CT scans; including 6 males, 9 females with age of 16-58 years averaging on 32. All of the cases were confirmed surgically and pathologically. Results: The 15 surgically proven cases were categorized by Todani Five Division Method into (1) Type 1:10 cases of extrahepatic choledochol cyst manifested with funnel or spindle shaped dilatation of extrahepatic bile ducts. (2) Type 4:3 cases showed multiple spindle or columnar shaped dilatation of intra and extrahepatic bile ducts with over 10 mm elongation of the common pancreatic bile duct. (3) Type 5:2 cases of Caroli's disease appeared as intra-hepatic multiple cystic or 'segmental' low density lesions of different sizes with no enhancement on CT postcontrast scans but having central spot sign, often complicated by cirrhosis and porto-hypertension. All 15 cases were featured by cholangitis and cholecystitis including formation of gallstones in 12 cases. The diagnostic accuracy rates of CT, B-mode US and PTC were 91.7%, 83.3% and 100%, respectively. Conclusions: Congenital choledochol cyst in adult associated with many complications provides high diagnostic difficulties for CT and B-mode US but PTC can show the complete biliary tree beneficial clinically for planning surgery

  9. A Retrospective Evaluation of the Patients with Congenital Heart Disease in Neonatal Intensive Care Unit

    OpenAIRE

    Emine Yurdakul Ertürk; Şükrü Küçüködük; Kemal Baysal; Pelin Ayyıldız; Ayşegül Yılmaz; Gönül Oğur

    2016-01-01

    Introduction: Congenital heart disease (CHD) is the most common congenital anomaly in newborns. In this study it was aimed to investigate the demographic features of the patients with CHD diagnosed in neonatal intensive care unit (NICU) to determine the frequency of the anomalies and to elucidate the etiologic risk factors. Materials and Methods: The files of 361 newborns who were diagnosed with CHD and hospitalized at Ondokuz Mayıs University NICU were retrospectively examined from 2006 t...

  10. Adverse effect left congenital diaphragmatic hernia to position and function of the fetal heart

    OpenAIRE

    Adhi Pribadi; Johanes Cornelius Mose

    2015-01-01

    Background: There many heart problems in patients with CDH. Methods: Between January 2012 and July 2015, three pregnancies (1:2153) performed ultrasound examination to investigate suspected CDH. All symptoms displayed descriptively in table. Results: In prenatal life, ultrasonography has a high sensitivity for detection of congenital diaphragmatic hernia. The definite ultrasonographic diagnosis of fetal congenital diaphragmatic hernia lies on the visualization of abdominal organs in th...

  11. Stepwise Approach Using Combined Management in Patients with Congenital Heart Disease and Borderline Pulmonary Vascular Disease

    OpenAIRE

    Lee, Sang-Yun; Kim, Soo-Jin; Son, Jae Sung; Kim, Seong-Ho; Lee, Chang-Ha

    2015-01-01

    Background and Objectives Despite remarkable advances in pediatric cardiology, pulmonary arterial hypertension associated with congenital heart disease remains a major problem. In the past decade new vasodilators have been introduced and appear to be effective in reducing pulmonary vascular resistance (PVR). Subjects and Methods From 2000 to 2011, we retrospectively reviewed the records of 22 patients who had congenital septal defects and borderline pulmonary vascular disease (PVD). The PVR i...

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

    OpenAIRE

    Rassart, Jessica; Luyckx, Koen; Goossens, Eva; Apers, Silke; Klimstra, Theo; Moons, Philip

    2013-01-01

    The present 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 pediatric and congenital cardiology of the University Hospitals Leuven. A total of 366 adolescents (15-20 years) participated; 364 were matched on sex and age with community controls. Adolescents’ personality was assessed using the Quick Big Five, quality of life was m...

  13. Efficacy of fetal echocardiography in prenatal diagnosis of congenital heart diseases

    OpenAIRE

    Mahmoud F. Midan; Refaat I. Alsheemy; Samia M. Eid; Marwa E. Abdel Salam

    2016-01-01

    Background: Congenital heart diseases are the commonest fetal congenital defects and until nowadays most of them are bypassed without prenatal diagnosis to be still considered as unexplained stillbirths or perinatal deaths. In this study, we tried to prove the importance of routine fetal cardiac screening in the ANC visits and also confirming its high accuracy. Methods: This study was prospective longitudinal one, including doing ISUOG extended fetal cardiac screening for one hundred foetu...

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

    OpenAIRE

    S Rahimpour; V Modarresi; Behjati, M; MA Behjati

    2011-01-01

    Introduction: Despite the discovery of insulin and current improvement in diabetics care, congenital malformations in diabetics are still more frequent than in the general population. The aim of this study was to identify congenital heart dieases (CHD) in the newborns of diabetic mothers (IDMS). Methods: In our prospective study, color doppler echocardiography was performed in 75 consecutive full- term newborns of diabetic mothers by GE Vivid3 echocardiographic device. Newborns were classifie...

  15. Impact of diabetes, chronic heart failure, congenital heart disease and chronic obstructive pulmonary disease on acute and chronic exercise responses

    OpenAIRE

    Brassard, Patrice; Ferland, Annie; Marquis, Karine; Maltais, François; Jobin, Jean; Poirier, Paul

    2007-01-01

    Several chronic diseases are known to negatively affect the ability of an individual to perform exercise. However, the altered exercise capacity observed in these patients is not solely associated with the heart and lungs dysfunction. Exercise has also been shown to play an important role in the management of several pathologies encountered in the fields of cardiology and pneumology. Studies conducted in our institution regarding the influence of diabetes, chronic heart failure, congenital he...

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

    Directory of Open Access Journals (Sweden)

    Antonio Lopes

    2014-01-01

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

  17. Relationship Between Polymorphism of Methylenetetrahydrofolate Dehydrogenase and Congenital Heart Defect

    Institute of Scientific and Technical Information of China (English)

    JUN CHENG; WEN-LI ZHU; JING-JING DAO; SHU-QING LI; YONG LI

    2005-01-01

    Objective To investigate the relationship between G1958A gene polymorphism of methylenetetrahydrofolate dehydrogenase (MTHFD) and occurrence of congenital heart disease (CHD) in North China. Methods One hundred and ninety-two CHD patients and their parents were included in this study as case group in Liaoning Province by birth defect registration cards, and 124 healthy subjects (age and gender matched) and their parents were simultaneously selected from the same geographic area as control. Their gene polymorphism of MTHFD G1958A locus was examined with PCR-RFLP, and serum folic acid and homocysteine (Hcy) levels were tested with radio-immunoassay and fluorescence polarization immunoassay (FPIA). Results There existed gene polymorphism at MTHFD G1958A locus in healthy subjects living in North China. The percentages of GG, GA, and AA genotype were 57.98%, 35.57%, and 6.45% respectively, and the A allele frequency was 24.23%, which was significantly different from Western population. No difference was observed when comparing genotype distribution and allele frequency between the case and control groups, so was the result from the comparison between genders. The A allele frequency of arterial septal defect patients' mothers (10.87%) was significantly lower than that of controls (28.15%) (P=0.014), with OR=0.31 (95% CI: 0.09-0.84), and no difference in the other subgroups. The percentage of at least one parent carrying A allele in arterial septal defect subgroup (43.48%) was significantly lower than that in controls (69.64%) (P=0.017), with OR=0.34 (95% CI: 0.12-0.92). The analysis of genetic transmission indicated that there was no transmission disequillibrium in CHD nuclear families. Their serum folic acid level was significantly higher than that of controls (P=0.000), and Hcy level of the former was higher than that of the latter with no statistical significance (P>0.05). Serum Hcy and folic acid levels of mothers with gene mutation were lower than those of mothers

  18. Cardiopatia congênita no adulto: perfil clínico ambulatorial no Hospital das Clínicas de Ribeirão Preto Congenital heart disease in adults: outpatient clinic profile at the Hospital das Clínicas of Ribeirão Preto

    Directory of Open Access Journals (Sweden)

    Fernando Amaral

    2010-06-01

    Full Text Available FUNDAMENTO: Experiências de serviços em adultos com cardiopatias congênitas não têm sido relatadas no nosso meio. OBJETIVO: Descrever o perfil clínico básico de adultos com cardiopatias congênitas atendidos ambulatorialmente em centro terciário. MÉTODOS: Anotaram-se dados referentes a idade, sexo, procedência, diagnóstico principal e diagnósticos secundários de 413 pacientes atendidos durante sete anos. RESULTADOS: G1 (não tratados: 195 pacientes, 51% mulheres, 57% entre 14 e 30 anos, 80% residentes na região. As cardiopatias mais frequentes foram comunicação interventricular (CIV (31%, comunicação interatrial (CIA (29% e estenose pulmonar (7%. Os diagnósticos secundários predominantes foram hipertensão arterial (9% e arritmias (5%. G2 (tratados: 218 pacientes, 56% mulheres, 57% entre 14 e 30 anos, 81% residentes na região. As cardiopatias mais frequentemente tratadas foram CIA (36%, tetralogia de Fallot (14%, coarctação da aorta (12% e CIV (11%. Sessenta e nove (32% pacientes foram operados na idade adulta. Dezesseis (7% foram submetidos a um cateterismo intervencionista. Os diagnósticos secundários predominantes foram hipertensão arterial (18% e arritmias (8%. CONCLUSÃO: Na casuística, predominaram pacientes tratados invasivamente, residentes na região e a maioria com idade abaixo de 40 anos. Defeitos como CIA, CIV e estenose pulmonar predominaram no grupo não tratado, ao passo que, nos tratados, a maioria tinha sido submetida à correção de CIA, tetralogia de Fallot, coarctação da aorta e CIV. Hipertensão arterial e arritmias foram relevantes em ambos os grupos, sendo também registrada grande diversidade de outras comorbidades.BACKGROUND: Service experiences for adults with congenital heart disease have not been reported in our country. OBJECTIVE: To describe the basic clinical profile of adults with congenital heart disease in an outpatient tertiary care center. METHODS: We compiled data on age, gender

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

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

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

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

    International Nuclear Information System (INIS)

    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

  1. 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.

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

    International Nuclear Information System (INIS)

    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

  3. Human fetal cardiac progenitors: The role of stem cells and progenitors in the fetal and adult heart.

    Science.gov (United States)

    Bulatovic, Ivana; Månsson-Broberg, Agneta; Sylvén, Christer; Grinnemo, Karl-Henrik

    2016-02-01

    The human fetal heart is formed early during embryogenesis as a result of cell migrations, differentiation, and formative blood flow. It begins to beat around gestation day 22. Progenitor cells are derived from mesoderm (endocardium and myocardium), proepicardium (epicardium and coronary vessels), and neural crest (heart valves, outflow tract septation, and parasympathetic innervation). A variety of molecular disturbances in the factors regulating the specification and differentiation of these cells can cause congenital heart disease. This review explores the contribution of different cardiac progenitors to the embryonic heart development; the pathways and transcription factors guiding their expansion, migration, and functional differentiation; and the endogenous regenerative capacity of the adult heart including the plasticity of cardiomyocytes. Unfolding these mechanisms will become the basis for understanding the dynamics of specific congenital heart disease as well as a means to develop therapy for fetal as well as postnatal cardiac defects and heart failure. PMID:26421632

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

    International Nuclear Information System (INIS)

    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)

  5. 1st and 2nd Trimester Headsize in Fetuses with Congenital Heart Disease: A Cohort Study

    DEFF Research Database (Denmark)

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

    2014-01-01

    Background: Congenital heart disease (CHD) is associated with neuro-developmental disorders. The influence of CHD on the brain may be present in the fetus. We hypothesize that fetal cerebral growth is impaired as early as 2nd trimester. Aim: To investigate if fetal cerebral growth is associated...... and screening for fetal malformations is carried out. Our cohort includes all fetuses in Western Denmark (2.9 million inhabitants) screened in between January 1st 2012 and December 31st 2013, diagnosed with any structural, non-syndromic congenital heart disease either during pregnancy or up to 6...

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

    International Nuclear Information System (INIS)

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

  7. Double Aneuploidy 48,XXY,+21 Associated with a Congenital Heart Defect in a Neonate.

    Science.gov (United States)

    Shu, X; Zou, C; Shen, Z

    2013-12-01

    A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve regurgitation. Further chromosomal analysis showed a karyotype of 48,XXY,+21: a double aneuploidy of DS and Klinefelter syndrome (KS). Until now, only seven cases of double aneuploidy associated with CHD defect have been reported. PMID:24778570

  8. Two congenital coronary abnormalities affecting heart function: anomalous origin of the left coronary artery from the pulmonary artery and congenital left main coronary artery atresia

    Institute of Scientific and Technical Information of China (English)

    Xiao Yanyan; Jin Mei; Han Ling; Ding Wenhong; Zheng Jianyong; Sun Chufan; Lyu Zhenyu

    2014-01-01

    Background The anomalous origin of the left coronary artery (LCA) from the pulmonary artery (ALCAPA) and congenital left main coronary artery atresia (CLMCA-A) are two kinds of very rare coronary heart diseases which affect heart function profoundly.This study aimed to retrospectively illustrate the clinical features and therapy experience of ALCAPA and CLMCA-A patients.Methods From April 1984 to July 2012,in Beijing Anzhen Hospital,23 patients were diagnosed with ALCAPA and 4 patients with CLMCA-A.We summarized the clinical data of the 27 cases and retrospectively analyzed the clinical manifestation,diagnosis,and treatments of these two kinds of congenital coronary abnormalities.Results The 23 patients (13 males and 10 females,aged ranging from 2.5 months to 65 years) identified with ALCAPA were classified into infantile type (age of onset younger than 12 months,16 cases) and adult type (age of onset older than 12 months,7 cases).Four patients were diagnosed with CLMCA-A (three males and one female,aged ranging from 3 months to 2 years).The main clinical manifestations of infantile-type ALCAPA and CLMCA-A include repeated respiratory tract infection,heart failure,dyspnea,feeding intolerance,diaphoresis,and failure to thrive.And these two congenital coronary abnormalities might be misdiagnosed as endocardial fibroelastosis,dilated cardiomyopathy,and acute myocardial infarction.As for the adult-type ALCAPA,cardiac murmurs and discomfort of the precordial area are the most common presentations and might be misdiagnosed as coronary heart disease,myocarditis,or patent ductus arteriosus.In ECG examination:Infantile-type ALCAPA and CLMCA-A showed abnormal Q waves with T wave inversion in leads I,avL,and V4-V6,especially in lead avL.However,ECG of adult-type ALCAPA lacked distinct features.In chest radiography:pulmonary congestion and cardiomegaly were the most common findings in infantile-type ALCAPA and CLMCA-A,while pulmonary artery segment dilation was more common in

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

    Directory of Open Access Journals (Sweden)

    S Rahimpour

    2011-10-01

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

  10. Sex Suffers for Younger Adults After Heart Attack

    Science.gov (United States)

    ... gov/news/fullstory_160722.html Sex Suffers for Younger Adults After Heart Attack Lack of interest a ... 2016 (HealthDay News) -- After a heart attack, many younger adults experience sexual difficulties -- and women more so ...

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

    Science.gov (United States)

    Twite, Mark; Ing, Richard J

    2016-03-01

    This article is a review of the literature published during the 12 months of 2015, which is of interest to the congenital cardiac anesthesiologist. While the review is not exhaustive, it identifies 7 themes in the literature for 2015 and cites 78 peer-reviewed publications. PMID:26783264

  12. Open-source Teleconsulting System for International Cooperative Medical Decision Making in Congenital Heart Diseases

    OpenAIRE

    Gori, Andrea; Taddei, Alessandro; Mota, Debora; Rocca, Emiliano; Carducci, Tiziano; Piccini, Giacomo; Ciregia, Alessio; Marcheschi, Paolo; Assanta, Nadia; Murzi, Bruno; Ricci, Giorgio

    2010-01-01

    A project was developed by Heart Hospital in Massa, supported by Cuore un Mondo Association and Tuscany Region, for medical cooperation with Balkan Countries in diagnosis and care of congenital heart diseases. First step was to set up a telemedicine network aimed at multi-center cooperative medical decision making. Tele-echocardiography was initially implemented at pediatric clinical centres of Banja Luka, Rijeka and Tirana, using videoconference equipment for transmitting over Internet seque...

  13. Estimation of salivary nitric oxide levels in children with congenital heart diseases

    OpenAIRE

    Garg, Sakshi Anurag; Thosar, Nilima Ramdas; Baliga, Sudhindra M.; Bhatiya, Poonam Vidyaanand

    2015-01-01

    Introduction: Oral health problems, especially dental caries are known to be common in children with severe heart disease, especially at early ages. The role of nitric oxide (NO) in protection against oral diseases owing to its strong antimicrobial action has been a topic of interest. Objective: The current study was carried out to estimate the NO levels in the salivary samples of children diagnosed with congenital heart diseases (CHDs) and to determine whether salivary NO can serve as a pote...

  14. Diagnostic dilemma in a child with congenital heart disease on sildenafil

    OpenAIRE

    Zaki Syed; Dadge Deepak; Asif Shujaath; Shanbag Preeti

    2009-01-01

    Sildenafil is used in infants and children mainly for the treatment of pulmonary hypertension associated with congenital heart disease. Some side-effects of sildenafil are similar to the symptoms and signs of congestive heart failure in children. We present a case of a two-month-old infant with supracardiac total anomalous venous connection and pulmonary hypertension, who presented with severe sweating and tachycardia after institution of sildenafil therapy. He improved dramatically on discon...

  15. Cardiac surgery in grown-up congenital heart patients. Will the surgical workload increase?

    DEFF Research Database (Denmark)

    Klcovansky, J.; Søndergård, Lars; Helvind, M.; Andersen, H.O.

    2008-01-01

    The number of patients with grown-up congenital heart (GUCH) disease is steadily increasing. Although there is agreement that the medical service for GUCH patients should be expanded in coming years, it is still unknown whether this should also include the surgical service. In an attempt to...

  16. Pulmonary vascular remodeling in congenital heart disease : Enhanced expression of heat shock proteins

    NARCIS (Netherlands)

    Geiger, Ralph; Sharma, Hari S.; Mooi, Wolter J.; Berger, Rolf M. F.

    2009-01-01

    In congenital heart disease (CHD), mechanical wall stress by increased pulmonary artery pressure and pulmonary blood flow is believed to play a pivotal role in the pathogenesis of pulmonary plexogenic arteriopathy (PPA). The pathogenesis of this disease that involves significant pulmonary arterial r

  17. 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. PMID:27364729

  18. PETER’S TYPE II ANOMALY ASSOCIATED WITH CONGENITAL HEART DEFECT: RARE CASE REPORT

    OpenAIRE

    Darshan Kumar; Sunil G

    2015-01-01

    PURPOSE: Reporting a case of Peters’ type II with congenital heart defect a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. It is characterized by central corneal opacification secondary to defects in a posterior corneal stroma, Descemet's membrane, and endothelium. Majority of cases are sporadic, bilateral , and associated with other systemic malformations. MATERIAL AND METHOD: A...

  19. Awareness of infective endocarditis prophylaxis in parents of children with congenital heart disease: A prospective survey

    International Nuclear Information System (INIS)

    A prospective survey of parents of the children with congenital heart disesease was conducted to determine their awareness as regards the importance of oral hygiene and prophylaxis against infective endocarditis (IE). The results of this study demonstrated that only 8% of the parents were aware of the importance of good oro-dental hygiene and need for IE prophylaxis

  20. 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...

  1. Explanatory value of the ability index as assessed by cardiologists and patients with congenital heart disease

    DEFF Research Database (Denmark)

    Overgaard, Dorthe; Schrader, Anne-Marie; Lisby, Karen Holst;

    2012-01-01

    The Ability Index was developed to classify patients with congenital heart disease into four functional classes. Functional class is typically determined by the cardiologist, based on data from a clinical interview. The validity of the Ability Index as assessed by the patient has never been...

  2. 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...

  3. 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…

  4. Emotional and Behavioural Problems in Children and Adolescents with Congenital Heart Disease

    Science.gov (United States)

    Johnson, Beena; Francis, Johnson

    2005-01-01

    Major physical illnesses usually have an impact on the psychological well-being of any individual. An illness of early onset, with necessity of frequent diagnostic and therapeutic interventions can adversely affect the emotional balance and behavioural adaptation of children and adolescents. This is applicable for congenital heart disease,…

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

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

    DEFF Research Database (Denmark)

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

    2015-01-01

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

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

    DEFF Research Database (Denmark)

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

    2012-01-01

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

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

    Science.gov (United States)

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

    2008-01-01

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

  9. 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...

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

    NARCIS (Netherlands)

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

    2008-01-01

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

  11. Awareness of infective endocarditis prophylaxis in parents of children with congenital heart disease: A prospective survey

    Directory of Open Access Journals (Sweden)

    Nath Parrimala

    2008-01-01

    Full Text Available A prospective survey of parents of the children with congenital heart disesease was conducted to determine their awareness as regards the importance of oral hygiene and prophylaxis against infective endocarditis (IE. The results of this study demonstrated that only 8% of the parents were aware of the importance of good oro-dental hygiene and need for IE prophylaxis.

  12. Awareness of infective endocarditis prophylaxis in parents of children with congenital heart disease: A prospective survey

    OpenAIRE

    Nath Parrimala; Kiran V; Maheshwari Sunita

    2008-01-01

    A prospective survey of parents of the children with congenital heart disesease was conducted to determine their awareness as regards the importance of oral hygiene and prophylaxis against infective endocarditis (IE). The results of this study demonstrated that only 8% of the parents were aware of the importance of good oro-dental hygiene and need for IE prophylaxis.

  13. 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

  14. Unusual type of congenital heart disease associated with the Holt-Oram-Syndrome

    Energy Technology Data Exchange (ETDEWEB)

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

    1981-06-01

    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.

  15. Recent Decrease in the Prevalence of Congenital Heart Defects in Europe

    DEFF Research Database (Denmark)

    Khoshnood, Babak; Loane, Maria; Garne, Ester;

    2013-01-01

    OBJECTIVES: To examine trends in the prevalence of congenital heart defects (CHDs) in Europe and to compare these trends with the recent decrease in the prevalence of CHDs in Canada (Quebec) that was attributed to the policy of mandatory folic acid fortification. STUDY DESIGN: We used data for th...

  16. New clinical molecular diagnostic methods for congenital and inherited heart disease

    NARCIS (Netherlands)

    Jongbloed, Jan Dh; Pósafalvi, Anna; Kerstjens-Frederikse, Wilhelmina S; Sinke, Richard J; van Tintelen, J Peter

    2011-01-01

    IMPORTANCE OF THE FIELD: For patients with congenital and inherited heart disorders, causative mutations are often not identified owing to limitations of current screening techniques. Identifying the mutation is of major importance for genetic counseling of patients and families, facilitating the di

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

    International Nuclear Information System (INIS)

    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

  18. Congenital cardiology: recent advances emphasise the need for collaboration

    OpenAIRE

    Mulder, B.J.M.

    2006-01-01

    The population of adult patients with congenital heart disease is steadily growing, due to the developments in cardiac surgery and thereby decreased mortality. However, morbidity in these patients is substantial. Patients with repaired lesions often need reoperations later in life. Most congenital heart defects, operated or not, have the potential to lead to clinical heart failure. Arrhythmias affect up to 50% of patients with congenital heart disease. The prevalence of pulmonary hypertension...

  19. December 2014 HeartWeek issue of cardiology in the young: highlights of HeartWeek 2014: diseases of the cardiac valves from the foetus to the adult.

    Science.gov (United States)

    Jacobs, Jeffrey P

    2014-12-01

    This December Issue of Cardiology in the Young represents the 12th annual publication generated from the two meetings that compose "HeartWeek in Florida". "HeartWeek in Florida", the joint collaborative project sponsored by the Cardiac Center at the Children's Hospital of Philadelphia, Pennsylvania, together with Johns Hopkins All Children's Heart Institute of Saint Petersburg, Florida, averages over 1000 attendees every year and is now recognised as one of the major planks of continuing medical and nursing education for those working in the fields of diagnosis and treatment of cardiac disease in the foetus, neonate, infant, child, and adult. "HeartWeek in Florida" combines the International Symposium on Congenital Heart Disease, organised by All Children's Hospital and Johns Hopkins Medicine and entering its 15th year, with the Annual Postgraduate Course in Pediatric Cardiovascular Disease, organised by The Children's Hospital of Philadelphia and entering its 18th year. This December, 2014 Issue of Cardiology in the Young features highlights of Johns Hopkins All Children's Heart Institute's 14th Annual International Symposium on Congenital Heart Disease, which was held at the Renaissance Vinoy Resort & Golf Club, Saint Petersburg, Florida, from 15-18 February, 2014. This Symposium was co-sponsored by The American Association for Thoracic Surgery (AATS) and had as its special focus " Diseases of the Cardiac Valves from the Fetus to the Adult ". We acknowledge the tremendous contributions made to paediatric and congenital cardiac care by Duke Cameron and Joel Brenner, and therefore we dedicate this December, 2014 HeartWeek Issue of Cardiology in the Young to them. Duke Cameron is Professor of Surgery at Johns Hopkins University and Cardiac Surgeon-in-Charge at The Johns Hopkins Hospital. Joel Brenner is Professor of Pediatrics at Johns Hopkins University and Director of the Taussig Heart Center at Bloomberg Children's Center, The Johns Hopkins Hospital. Together

  20. The Role of Cardiovascular Magnetic Resonance in Pediatric Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Taylor Andrew M

    2011-09-01

    Full Text Available Abstract Cardiovascular magnetic resonance (CMR has expanded its role in the diagnosis and management of congenital heart disease (CHD and acquired heart disease in pediatric patients. Ongoing technological advancements in both data acquisition and data presentation have enabled CMR to be integrated into clinical practice with increasing understanding of the advantages and limitations of the technique by pediatric cardiologists and congenital heart surgeons. Importantly, the combination of exquisite 3D anatomy with physiological data enables CMR to provide a unique perspective for the management of many patients with CHD. Imaging small children with CHD is challenging, and in this article we will review the technical adjustments, imaging protocols and application of CMR in the pediatric population.

  1. Adults living with heart failure and fatigue

    DEFF Research Database (Denmark)

    Schjødt, Inge; Sommer, Irene; Bjerrum, Merete

    studies have been performed to develop more coherent and effective interventions to support self-care among heart failure patients experiencing fatigue. The findings of qualitative research should be synthesised to optimise nurses' understanding of fatigue and develop recommendations for practice. Aim To...... describe their experiences of fatigue? • How do patients with HF perceive the impact of fatigue in everyday life? • How do patients with HF manage fatigue and its consequences in everyday life? Methods A systematic literature search for published and unpublished studies 1995-2012 was carried out from...... October 2012 - ????. Search terms were “heart failure”, “fatigue” and “experience”. Studies were included if they explored the experiences and management of fatigue in everyday life among adult patients with HF, included non-hospitalised adult patients with confirmed HF or outpatients in a HF clinic. The...

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

    Energy Technology Data Exchange (ETDEWEB)

    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)

  3. Mountain climbing of the grown-up patient with non-corrected congenital heart defect.

    Science.gov (United States)

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

    2016-03-01

    Congenital heart defects (CHD) are the cause of reduced physical performance. The presence of congenital abnormalities in the heart of grown-up patients contributes to excessive hypo-kinesia. We present endurance parameters and a personalized comprehensive cardiac rehabilitation program before an extreme mountain climbing of a 27-year-old patient with an uncorrected ventricular septal defect (VSD). A 26-year-old female patient with an uncorrected congenital VSD was admitted to the department of cardiac rehabilitation before the planned high-mountain expedition. Professional preparation and assessment of actual exercise capacity was performed before scheduled extreme climbing. We conclude that physical activity associated with a heavy load in people with uncorrected CHD who have not developed pulmonary hypertension and reverse right-to-left flow seems to be safe, while participation of grown-up patients with congenital heart disease (GUCH) in extreme mountain climbing requires special preparation, individually designed endurance training and education program, conducted by the team of professionals in specialist centers. PMID:27212986

  4. The Society of Thoracic Surgeons Congenital Heart Surgery Database: 2016 Update on Research.

    Science.gov (United States)

    Jacobs, Marshall L; Jacobs, Jeffrey P; Pasquali, Sara K; Hill, Kevin D; Hornik, Christoph; O'Brien, Sean M; Shahian, David M; Habib, Robert H; Edwards, Fred H

    2016-09-01

    The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS CHSD) is the largest congenital and pediatric cardiac surgical clinical data registry in the world. With more than 400,000 total operations from nearly all centers performing pediatric and congenital heart operations in North America, the STS CHSD is an unparalleled platform for clinical investigation, outcomes research, and quality improvement activities in this subspecialty. In 2015, several major original publications reported analyses of data in the CHSD pertaining to specific diagnostic and procedural groups, age-defined cohorts, or the entire population of patients in the database. Additional publications reported the most recent development, evaluation, and application of metrics for quality measurement and reporting of pediatric and congenital heart operation outcomes. This use of the STS CHSD for outcomes research and for quality measurement continues to expand as database participation and the available wealth of data in it continue to grow. This article reviews outcomes research and quality improvement articles published in 2015 based on STS CHSD data. PMID:27492669

  5. Mountain climbing of the grown-up patient with non-corrected congenital heart defect

    Science.gov (United States)

    Gierat-Haponiuk, Katarzyna; Szalewska, Dominika; Niedoszytko, Piotr; Bakuła, Stanisław; Chojnicki, Maciej

    2016-01-01

    Congenital heart defects (CHD) are the cause of reduced physical performance. The presence of congenital abnormalities in the heart of grown-up patients contributes to excessive hypo-kinesia. We present endurance parameters and a personalized comprehensive cardiac rehabilitation program before an extreme mountain climbing of a 27-year-old patient with an uncorrected ventricular septal defect (VSD). A 26-year-old female patient with an uncorrected congenital VSD was admitted to the department of cardiac rehabilitation before the planned high-mountain expedition. Professional preparation and assessment of actual exercise capacity was performed before scheduled extreme climbing. We conclude that physical activity associated with a heavy load in people with uncorrected CHD who have not developed pulmonary hypertension and reverse right-to-left flow seems to be safe, while participation of grown-up patients with congenital heart disease (GUCH) in extreme mountain climbing requires special preparation, individually designed endurance training and education program, conducted by the team of professionals in specialist centers. PMID:27212986

  6. Diagnosis of congenital and adult-onset hypothyroidism in cats.

    Science.gov (United States)

    Greco, Deborah S

    2006-02-01

    Whereas hyperthyroidism is the most common endocrine disorder in the cat, hypothyroidism is the least common feline endocrine disorder. This is a the result of several factors including low index of suspicion, rarity of the naturally occurring hypothyroidism in cats, and a lack of species specific tests for endogenous TSH and antithyroglobulin antibodies. Nonetheless, hypothyroidism does occur in cats, especially in kittens and after radioactive treatment for hyperthyroidism. The clinician should become familiar with the common presentations of congenital and adult-onset hypothyroidism in cats. In addition, some of the tests specific to dogs (such as endogenous canine TSH) may be utilized to diagnose subclinical hypothyroidism in cats. Fortunately, the treatment of feline hypothyroidism with synthetic levothyroxine is both straightforward and effective. PMID:16584030

  7. Comparative study on cerebral injury after open heart surgery in patients with congenital and rheumatic heart disease

    Institute of Scientific and Technical Information of China (English)

    WANG Yong; XIAO Ying-bin; CHEN Lin; ZHONG Qian-jin; WANG Xue-feng

    2005-01-01

    Objective: To comparatively study the different effects of open heart surgery on brain tissues of patients with congenital and rheumatic heart disease. Methods: Forty patients with congenital heart disease (CHD, CHD group, n=20) or rheumatic heart disease (RHD, RHD group, n=20) underwent on-pump (cardiopulmonary bypass, CPB) heart-beating open heart surgery. Blood samples before CPB, and 20 minutes, 1 hour, 24 hours and 7 days after CPB were collected, and the levels of neuron-specific enolase (NSE) and protein S-100b in the plasma were determined with enzyme-linked immunoadsorbent assay (ELISA), respectively. All the patients were examined with electroencephalogram (EEG) before and 1 week after operation. The changes of NSE, S-100b and EEG compared to verify the difference of postoperative cerebral injury between CHD cases and RHD cases. Results: The plasma level of S-100b increased significantly 20 minutes after CPB and was still higher than the preoperative level at 24 hours after operation in both groups (P<0.01). The plasma level of NSE increased more significantly in the CHD group than in the RHD group 20 minutes after CPB and it returned to the normal level 24 hours after CPB in the CHD group but remained at a high level in the RHD group (P<0.01). The levels of NSE and S-100b returned to the normal levels on the 7th day after CPB. Abnormal EEG was found in 75% of the patients in the CHD group and 60% in the RHD group. Conclusions: On-pump heart-beating open heart surgery can cause certain cerebral injury in the patients with CHD or RHD. The injury was more severe and recovered more quickly in the CHD group than in the RHD group.

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

    International Nuclear Information System (INIS)

    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)

  9. A new plastic surgical technique for adult congenital webbed penis

    Institute of Scientific and Technical Information of China (English)

    Yue-bing CHEN; Xian-fan DING; Chong LUO; Shi-cheng YU; Yan-lan YU; Bi-de CHEN; Zhi-gen ZHANG; Gong-hui LI

    2012-01-01

    Objective:To introduce a novel surgical technique for correction of adult congenital webbed penis.Methods:From March 2010 to December 2011,12patients (age range:14-23 years old) were diagnosed as having a webbed penis and underwent a new surgical procedure designed by us.Results:All cases were treated successfully without severe complication.The operation time ranged from 20 min to 1 h.The average bleeding volume was less than 50 ml.All patients achieved satisfactory cosmetic results after surgery.The penile curvature disappeared in all cases and all patients remained well after 1 to 3 months of follow-up.Conclusions:Adult webbed penis with complaints of discomfort or psychological pressure due to a poor profile should be indicators for surgery.Good corrective surgery should expose the glans and coronal sulcus,match the penile skin length to the penile shaft length dorsally and ventrally,and provide a normal penoscrotal junction.Our new technique is a safe and effective method for the correction of adult webbed penis,which produces satisfactory results.

  10. Anatomical delineation of congenital heart disease using 3D magnetic resonance imaging

    Science.gov (United States)

    Adams Bornemeier, Renee; Fellows, Kenneth E.; Fogel, Mark A.; Weinberg, Paul M.

    1994-05-01

    Anatomic delineation of the heart and great vessels is a necessity when managing children with congenital heart disease. Spatial orientation of the vessels and chambers in the heart and the heart itself may be quite abnormal. Though magnetic resonance imaging provides a noninvasive means for determining the anatomy, the intricate interrelationships between many structures are difficult to conceptualize from a 2-D format. Taking the 2-D images and using a volumetric analysis package allows for a 3-D replica of the heart to be created. This model can then be used to view the anatomy and spatial arrangement of the cardiac structures. This information may be utilized by the physicians to assist in the clinical management of these children.

  11. Volume helical shuttle of high-definition CT in congenital heart disease: preliminary study

    International Nuclear Information System (INIS)

    Objective: To assess the clinical value of volume helical shuttle (VHS) of high definition CT (HDCT) in the diagnosis of congenital heart disease (CHD). Methods: Forty-three patients suffering from CHD were examined with VHS of HDCT and echocardiography (ECHO). Twenty-four patients (21 children, 3 adults) received surgery. Based on surgical data,the diagnostic accuracy of CHD by VHS of HDCT was compared with that by ECHO with respect to the intra-cardiac lesion, extra-cardiac lesion and hemodynamics. The visibility of the origin and proximal course of coronary arteries was also evaluated on VHS. CT effective doses were calculated,using mSv =DLP × K. Results: Thirty-six intra-cardiac deformities were found by operation, and the diagnostic accuracy of both VSH and ECHO were 100.0% (36/36). VHS successfully detected 42 of 44 (95.4%) cardiac-vascular connection and large vascular deformities, whereas ECHO only detected 26 (59.1% ). The right-to-left shunt and left-to-right shunt of septal defects revealed by VHS were 5 and 6 patients respectively, which all coincided with the results of ECHO.Fourteen bi-directional shunt of septal defects were detected by ECHO, and 13 of them were diagnosed as right-to-left shunt by HDCT except an illegibility in 1 patient. The origin and proximal course of coronary arteries were all visible on VHS. Effective dose for children was (3.38 ± 1.86) mSv, and for adults was (10.27 ± 2.59) mSv. Conclusions: VHS of HDCT scan is advantageous in the diagnosis of CHD. It can depict the intra- and extra- cardiac structures as well as coronary arteries and provide hemodynamic information. (authors)

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

    International Nuclear Information System (INIS)

    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

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

    International Nuclear Information System (INIS)

    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)

  14. Neurological outcome in isolated congenital heart block and hydrops fetalis

    NARCIS (Netherlands)

    Breur, Johannes M. P. J.; Gooskens, Rob H. J. M.; Kapusta, Livia; Stoutenbeek, Philip; Visser, Gerard H. A.; van den Berg, Paul; Meijboom, Erik J.

    2007-01-01

    Objective: Isolated fetal heart block ( HB), a condition associated with fetal hydrops, carries a high mortality rate and may result in neurodevelopmental sequelae. To the best of our knowledge, no data exist regarding the long- term outcome of such hydropic fetuses. We reviewed our experience with

  15. 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 develop into abnormal valves and septa. Our model produces similar phenotypes as found in our fetal alcohol syndrome and velo-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.

  16. Rare combination of congenital heart disease and pulmonary alveolar proteinosis.

    Science.gov (United States)

    Tanaka, Yuki; Miyamoto, Takashi; Yoshitake, Shuichi; Naito, Yuji; Kobayashi, Tomio

    2015-10-01

    Here, we describe a case of total anomalous pulmonary venous return with coarctation of the aorta that was diagnosed as pulmonary alveolar proteinosis at autopsy in a male infant. Surgical repair was performed at 1 day of age, but the infant died on postoperative day 51 due to respiratory insufficiency without any evidence of pulmonary venous obstruction. He had been unexpectedly diagnosed with pulmonary alveolar proteinosis and pulmonary hypoplasia on autopsy. Congenital pulmonary alveolar proteinosis is a serious condition with a high mortality rate, which should be considered in the differential diagnosis in patients with a clinical picture of pulmonary venous obstruction, because most patients are unable to survive without proper treatment. In this report, we address specific issues that should be discussed in such cases based on our recent experience. PMID:26310609

  17. Zdravstvena nega novorojenca s prirojeno srčno napako: Nursing care of a new-born infant with congenital heart disease:

    OpenAIRE

    Urh, Irma

    1999-01-01

    The article presents nursing care of a new-borninfant with congenital heart disease based on the model of Virginia Henderson and the theory of needs of Abraham G. Maslow. Only those life activities which belong to the very top of the hierarchy of needs of a new-born infant with congenital heart disease, arepresented. Congenital heart disease often causes breathing difficulties manifested with dispnea. An early symptom of heart failure is liquid retentionwhich represents a decline in health st...

  18. MRI-based blood oxygen saturation measurements in infants and children with congenital heart disease

    International Nuclear Information System (INIS)

    Background: Vessel oxygen saturation can be determined with MR oximetry using an in vivo measurement of signal decay (T2) and the calibration curve relating T2 to blood oxygen saturation (%HbO2), where: 1/T2=1/T2O+K (1-%HbO2/100)2 and K is a constant parameter which correlates with measured fibrinogen levels. The ability to noninvasively measure %HbO2 in cardiac chambers and vessels has enormous potential in children with congenital heart disease (CHD). Objective: The purpose of the study was to prospectively characterize the T2-%HbO2 relationship in infants where T2-%HbO2 is the realtionship between T2 and %HbO2 (blood oxygen saturation) expressed by the equation given above, and to determine whether adult values for K and T2O (where T2O is the T2 of fully oxygenated blood) can be extrapolated to pediatric patients with CHD. A second objective was to apply this method to calculate the %HbO2 in vivo using MR imaging in infants with CHD. Materials and methods: Fifteen patients with CHD undergoing cardiac catheterization (9 male; 6 female), median age 8 months, were recruited for the calibration study. T2O and K were measured directly from blood samples, compared with the values estimated from adult population statistics, and plotted against hematocrit and fibrinogen, respectively. In four studies of infants with CHD, T2 measurements were converted to %HbO2 using the calibration curve. Results: The T2-%HbO2 relationship in infants correlated with the adult calibration statistics (1/T2O vs. hematocrit, r=0.77; K vs. fibrinogen, r=0.61). Our initial in vivo studies demonstrated that the MR oximetry reflected the expected oxygen saturations. Conclusion: Adult values for T2-%HbO2 calibration can be used to measure blood oxygen saturation in vivo in children with CHD. (orig.)

  19. 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: The......%) fulfilled the compliance criteria of using the eHealth application for at least 2 consecutive weeks. In the control group, 61 patients (79%) completed both exercise tests. Adjusted for baseline values, the difference between the intervention group and the control group in mean VO2 peak at 1year was -0.65ml...

  20. 1H-MRS study of brain metabolic disorder in patients with cyanosed congenital heart disease

    International Nuclear Information System (INIS)

    Objective: To study the metabolic alteration in the brain of patients with cyanosed congenital heart disease (CCHD) by using 1H-magnetic resonance spectroscopy (1H-MRS) and discover the pathophysiology of chronic hypoxic brain, which will help to diagnose and treat this disease completely. Methods: Twenty-five patients with CCHD and 25 controls were performed PRESS 1H-MRS and MRI. The areas under the resonance of metabolites were measured, the ratios of the other metabolites to Cr were calculated and compared. Results: In patients with CCHD, the mean value of NAA/Cr was significantly lower than that in controls (P 0.05). Conclusion: 1H-MRS can detect brain metabolic changes in patients with cyanosed congenital heart disease in vivo noninvasively and can detect the metabolism disorder of the energy and amino acid, so the pathophysiology of this disease can be understood

  1. The development of a congenital heart programme quality dashboard to promote transparent reporting of outcomes.

    Science.gov (United States)

    Anand, Vijay; Cave, Dominic; McCrady, Heather; Al-Aklabi, Mohammed; Ross, David B; Rebeyka, Ivan M; Adatia, Ian

    2015-12-01

    In 2001, the Institute of Medicine identified healthcare transparency as a necessity for re-designing a quality healthcare system; however, despite widespread calls for publicly available transparent data, the goal remains elusive. The transparent reporting of outcome data and the results of congenital heart surgery is critical to inform patients and families who have both the wish and the ability to choose where care is provided. Indeed, in an era where data and means of communication of data have never been easier, the paucity of transparent data reporting is paradoxical. We describe the development of a quality dashboard used to inform staff, patients, and families about the outcomes of congenital heart surgery at the Stollery Children's Hospital. PMID:26675607

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

    CERN Document Server

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

    2011-01-01

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

  3. De novo mutations in Congenital Heart Disease with Neurodevelopmental and Other Birth Defects

    Science.gov (United States)

    Homsy, Jason; Zaidi, Samir; Shen, Yufeng; Ware, James S.; Samocha, Kaitlin E.; Karczewski, Konrad J.; DePalma, Steven R.; McKean, David; Wakimoto, Hiroko; Gorham, Josh; Jin, Sheng Chih; Deanfield, John; Giardini, Alessandro; Porter, George A.; Kim, Richard; Bilguvar, Kaya; Lopez, Francesc; Tikhonova, Irina; Mane, Shrikant; Romano-Adesman, Angela; Qi, Hongjian; Vardarajan, Badri; Ma, Lijiang; Daly, Mark; Roberts, Amy E.; Russell, Mark W.; Mital, Seema; Newburger, Jane W.; Gaynor, J. William; Breitbart, Roger E.; Iossifov, Ivan; Ronemus, Michael; Sanders, Stephan J.; Kaltman, Jonathan R.; Seidman, Jonathan G.; Brueckner, Martina; Gelb, Bruce D.; Goldmuntz, Elizabeth; Lifton, Richard P.; Seidman, Christine E.; Chung, Wendy K.

    2016-01-01

    Congenital heart disease (CHD) patients have increased prevalence of extra-cardiac congenital anomalies (CA) and risk of neurodevelopmental disabilities (NDD). Exome sequencing of 1,213 CHD parent-offspring trios identified an excess of protein-damaging de novo mutations, especially in genes highly expressed in developing heart and brain. These mutations accounted for 20% of patients with CHD, NDD and CA but only 2% with isolated CHD. Mutations altered genes involved in morphogenesis, chromatin modification, and transcriptional regulation, including multiple mutations in RBFOX2, an mRNA splice regulator. Genes mutated in other cohorts ascertained for NDD were enriched in CHD cases, particularly those with coexisting NDD. These findings reveal shared genetic contributions to CHD, NDD, and CA and provide opportunities for improved prognostic assessment and early therapeutic intervention in CHD patients. PMID:26785492

  4. Cor Triatriatum Sinistrum Presenting as Cyanotic Congenital Heart Disease A Rare Case Report

    Directory of Open Access Journals (Sweden)

    Rajendra Gokhroo

    2015-03-01

    Full Text Available   Cor triatriatum is an acyanotic congenital heart disease. We present a rare case of cor triatriatum sinistrum in a 6-month-old female infant who was presented with cyanosis and failure to thrive. The 2D transthoracic echocardiography and the Doppler color flow imaging showed a proximal venous chamber communicating to the distal left atrium  through restrictive opening to the low-pressure, distal left atrial chamber. The Saline Contrast Echocardiography confirmed a right-to-left atrial shunt due to a minor atrial septal defect. The defect was caused by a persistent pulmonary hypertension which had raised the right atrial pressure in the infant. To the best of our knowledge, barely any such cases have been reported in the literature so far. Our report highlights the clinical utility of the Saline Contrast Echo in other cases of congenital heart diseases.

  5. Stem Cells and Progenitor Cells for Tissue-Engineered Solutions to Congenital Heart Defects

    OpenAIRE

    Yang Gao; Jacot, Jeffrey G.

    2015-01-01

    Synthetic patches and fixed grafts currently used in the repair of congenital heart defects are nonliving, noncontractile, and not electrically responsive, leading to increased risk of complication, reoperation, and sudden cardiac death. Studies suggest that tissue-engineered patches made from living, functional cells could grow with the patient, facilitate healing, and help recover cardiac function. In this paper, we review the research into possible sources of cardiomyocytes and other cardi...

  6. Cor Triatriatum Sinistrum Presenting as Cyanotic Congenital Heart Disease A Rare Case Report

    OpenAIRE

    Rajendra Gokhroo; Bhanwar Ranwa; Kamal Kapoor; Ananthraj Avinash; Kumari Priti; Devendra Bisht; Sajal Gupta

    2015-01-01

      Cor triatriatum is an acyanotic congenital heart disease. We present a rare case of cor triatriatum sinistrum in a 6-month-old female infant who was presented with cyanosis and failure to thrive. The 2D transthoracic echocardiography and the Doppler color flow imaging showed a proximal venous chamber communicating to the distal left atrium  through restrictive opening to the low-pressure, distal left atrial chamber. The Saline Contrast Echocardiography confirmed a right-to-left atrial shunt...

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

    OpenAIRE

    H. M. Lisunets; V. S. Nedzvetsky

    2014-01-01

    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 devel...

  8. Universal Pulse Oximetry Screening for Early Detection of Critical Congenital Heart Disease

    OpenAIRE

    Praveen Kumar

    2016-01-01

    Critical congenital heart disease (CCHD) is a major cause of infant death and morbidity worldwide. An early diagnosis and timely intervention can significantly reduce the likelihood of an adverse outcome. However, studies from the United States and other developed countries have shown that as many as 30%–50% of infants with CCHD are discharged after birth without being identified. This diagnostic gap is likely to be even higher in low-resource countries. Several large randomized trials have s...

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

    DEFF Research Database (Denmark)

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

    2015-01-01

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

  10. Methionine synthase reductase deficiency results in adverse reproductive outcomes and congenital heart defects in mice

    OpenAIRE

    Deng, Liyuan; Elmore, C. Lee; Lawrance, Andrea K.; Matthews, Rowena G.; Rozen, Rima

    2008-01-01

    Low dietary folate and polymorphisms in genes of folate metabolism can influence risk for pregnancy complications and birth defects. Methionine synthase reductase (MTRR) is required for activation of methionine synthase, a folate- and vitamin B12-dependent enzyme. A polymorphism in MTRR (p.I22M), present in the homozygous state in 25% of many populations, may increase risk for neural tube defects. To examine the impact of MTRR deficiency on early development and congenital heart defects, we u...

  11. Anesthetic management for separation of thoracopagus twins with complex congenital heart disease: a case report

    OpenAIRE

    Seo, Misook; Chung, In-Sun; Karm, Myong-Hwan; Oh, Ji Mi; Shin, Won-Jung

    2015-01-01

    Although thoracopagus twins joined at the upper chest are the most common type of conjoined twins, the separation surgery in these cases has a higher mortality rate. Here, we describe an anesthetic management approach for the separation of thoracopagus conjoined twins sharing parts of a congenitally defective heart and liver. We emphasize the importance of vigilant intraoperative hemodynamic monitoring for early detection of unexpected events. Specifically, real-time continuous monitoring of ...

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

    OpenAIRE

    Engel MS; Kochilas LK

    2016-01-01

    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...

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

    OpenAIRE

    Engel, Melissa

    2016-01-01

    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. P...

  14. The Prevalence of Celiac Disease in Down syndrome Children with and without Congenital Heart Defects

    OpenAIRE

    Noor Mohammad Noori; Alireza Teimouri; Maryam Nakhaey Moghaddam; Touran Shahraki

    2016-01-01

    Background The prevalence of celiac disease (CD) is remarkably varied in Down syndrome(DS)patientscompared with other diseases.  This study aimed to assess celiac disease prevalence in Down syndrome children with and without congenital heart defects (CHD) and its comparison with controls. Materials and Methods This case-control study was performed at a single center on 132 participants in three groups. Clinical and genetic tests were performed on all patients suspected with Down syndrome to c...

  15. Identifying improvements to complex pathways: evidence synthesis and stakeholder engagement in infant congenital heart disease

    OpenAIRE

    Crowe, Sonya; Knowles, Rachel; Wray, Jo; Tregay, Jenifer; Ridout, Deborah A; Utley, Martin; Franklin, Rodney; Bull, Catherine L; Brown, Katherine L

    2016-01-01

    Objectives 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. Design A systematic evidence synthesis aligned with a process of eliciting the perspectives of f...

  16. In Vitro Simulation and Validation of the Circulation with Congenital Heart Defects

    OpenAIRE

    Figliola, Richard S.; Giardini, Alessandro; Conover, Tim; Camp, Tiffany A.; Biglino, Giovanni; Chiulli, John; Hsia, Tain-Yen

    2010-01-01

    Despite the recent advances in computational modeling, experimental simulation of the circulation with congenital heart defect using mock flow circuits remains an important tool for device testing, and for detailing the probable flow consequences resulting from surgical and interventional corrections. Validated mock circuits can be applied to qualify the results from novel computational models. New mathematical tools, coupled with advanced clinical imaging methods, allow for improved assessme...

  17. Treatment of Congenital Complete Atrioventricular Heart Block With Permanent Epicardial Pacemaker in Neonatal Lupus Syndrome

    OpenAIRE

    Tanriverdi, Sema; Ulger, Zulal; Siyah Bilgin, Betul; Kultursay, Nilgun; Yalaz, Mehmet; Atay, Yuksel; Koroglu, Ozge Altun

    2015-01-01

    Introduction: Neonatal lupus syndrome (NLS) is a passively acquired autoimmune condition due to the transplacental passage of maternal anti-Ro/SSA and anti-La/SSB antibodies in mothers with systemic lupus erythematosus (SLE), and congenital complete heart block (CHB) is its most serious manifestation. Skin and hepatic involvement may occur in later infancy. Case Presentation: A term infant with fetal bradycardia, detected at the 23rd gestational age, was diagnosed with CHB due to NLS and was ...

  18. Universal Screening for Extracardiac Abnormalities in Neonates with Congenital Heart Disease

    OpenAIRE

    Gonzalez, Javier H.; Shirali, Girish S.; Atz, Andrew M.; Taylor, Sarah N.; Forbus, Geoffrey A.; Zyblewski, Sinai C.; Hlavacek, Anthony M.

    2008-01-01

    Extracardiac or genetic abnormalities (EGA) represent a factor in the morbidity of patients with congenital heart disease. We evaluated the way neonates with CHD are screened at our institution and determined the yield for the screening tests. We reviewed the charts of 223 neonates with structural CHD. Subjects were categorized into 6 groups: univentricular, left-sided obstructive lesions, right-sided obstructive lesions, septal defects, conotruncal defects (CTD), and other. We reviewed which...

  19. The Rate of Addiction in Parents of Toddlers With Congenital Heart Disease

    OpenAIRE

    Sahramian, Iraj; Noori, Noor Mohammad; Moradi, Abdolvahab; Forghani, Forugh; Sharafi, Elham

    2013-01-01

    Background Opium abuse is one of the widespread social problems, and one of the most worrying aspects of it is the effect of parents’ drug abuse on the fetus. Objectives The present study has investigated the correlation between opium abuse during pregnancy in mothers with congenital heart defects in their children. Materials and Methods From early 2009 to late 2011, for two consecutive years in specialized pediatric center of Zahedan Medical University, 225 of children suffering from congeni...

  20. The role of stents in the treatment of congenital heart disease: Current status and future perspectives

    OpenAIRE

    Peters Bjoern; Ewert Peter; Berger Felix

    2009-01-01

    Intravascular or intracardiac stenoses occur in many forms of congenital heart disease (CHD). Therefore, the implantation of stents has become an accepted interventional procedure for stenotic lesions in pediatric cardiology. Furthermore, stents are know to be used to exclude vessel aneurysm or to ensure patency of existing or newly created intracardiac communications. With the further refinement of the first generation of devices, a variety of “modern” stents with different design characteri...

  1. Procalcitonin as a biomarker of bacterial infection in pediatric patients after congenital heart surgery

    OpenAIRE

    Chakravarti, Sujata B; Diane A Reformina; Lee, Timothy M; Malhotra, Sunil P; Mosca, Ralph S; Puneet Bhatla

    2016-01-01

    Background: Bacterial infection (BI) after congenital heart surgery (CHS) is associated with increased morbidity and is difficult to differentiate from systemic inflammatory response syndrome caused by cardiopulmonary bypass (CPB). Procalcitonin (PCT) has emerged as a reliable biomarker of BI in various populations. Aim: To determine the optimal PCT threshold to identify BI among children suspected of having infection following CPB. Setting and Design: Single-center retrospective observationa...

  2. Variabilities in the mortality-related resource utilisation for congenital heart disease

    OpenAIRE

    Danford, David A; Karels, Quentin; Kutty, Shelby

    2016-01-01

    Objective Our objective was to characterise the divergence of effort from outcome in congenital heart disease (CHD) care by measuring mortality-related resource utilisation fraction (MRRUF) for various CHD lesions across institutions of differing volumes. Methods Study design was observational analysis of an administrative database, the Pediatric Health Information System (PHIS). The setting was inpatient; 2004–2013. Patients were ≤21 years old with atrial septal defect (ASD), ventricular sep...

  3. Pulmonary Arterial Hypertension Associated with Congenital Heart Disease and Eisenmenger Syndrome: Current Practice in Pediatrics

    OpenAIRE

    Frank, David B.; Hanna, Brian D.

    2015-01-01

    Pulmonary arterial hypertension (PAH) is an uncommon but serious disease characterized by severe pulmonary vascular disease and significant morbidity and mortality. PAH associated with congenital heart disease (APAH-CHD) is one etiology of PAH that has innate characteristics delineating it from other forms of PAH. The patient with APAH-CHD presents with unique challenges consisting of not only pulmonary vascular disease but also the complexity of the cardiac lesion. Eisenmenger syndrome (ES) ...

  4. Prepregnancy diabetes and offspring risk of congenital heart disease - A nationwide cohort study

    OpenAIRE

    Øyen, Nina; Diaz, Lars J.; Leirgul, Elisabeth; Boyd, Heather A.; Priest, James; Mathiesen, Elisabeth R.; Quertermous, Thomas; Wohlfahrt, Jan; Melbye, Mads

    2016-01-01

    Background—Maternal diabetes mellitus is associated with an increased risk of offspring congenital heart defects (CHD); however, the causal mechanism is poorly understood. We further investigated this association in a Danish nationwide cohort. Methods and Results—In a national cohort study, we identified 2 025 727 persons born from 1978 to 2011; among them were 7296 (0.36%) persons exposed to maternal pregestational diabetes mellitus. Pregestational diabetes melli...

  5. Early therapeutic experience with the endothelin antagonist BQ-123 in pulmonary hypertension after congenital heart surgery

    OpenAIRE

    Prendergast, B; Newby, D; Wilson, L.; Webb, D; Mankad, P

    1999-01-01

    OBJECTIVE—To assess the effect of endothelin type A (ETA) receptor antagonism in infants with pulmonary hypertension following corrective surgery for congenital heart disease.
DESIGN—Open label, preliminary study.
SETTING—Tertiary paediatric cardiothoracic surgical centre.
PATIENTS—Three infants (aged 3 weeks, 7 weeks, and 8 months) with postoperative pulmonary hypertension unresponsive to conventional treatment, including inhaled nitric oxide.
INTERVENTIONS—Patients received incremental intr...

  6. Intra-operative trans-esophageal echocardiography in congenital heart disease

    OpenAIRE

    Garg Rajnish; Murthy Keshava; Rao Shekhar; Muralidhar Kanchi

    2009-01-01

    Intra-operative trans-esophageal echocardiography (TEE) is an important monitoring and diagnostic tool used during surgery for repair of congenital heart disease. In several studies,TEE has been shown to provide additional intra-cardiac anatomic information. Its ability to be used intra- operatively before and after cardiac repair makes it a unique tool. Before TEE was available for intra-operative use, significant residual abnormalities were frequently not detected. The result was ofte...

  7. Intestinal microbiota and blue baby syndrome: Probiotic therapy for term neonates with cyanotic congenital heart disease

    OpenAIRE

    Ellis, Collin L.; Rutledge, John C; Underwood, Mark A.

    2010-01-01

    Necrotizing enterocolitis (NEC) is the most common intestinal emergency among premature infants. Risk factors in premature infants include immature intestinal immunity and an intestinal microbiota dominated by hospital-acquired bacteria. Some probiotics have been shown to decrease the incidence of NEC in premature infants. Among term infants, NEC is rare. However, among term infants with cyanotic congenital heart disease (CCHD), the incidence of NEC is similar to that of premature infants but...

  8. De novo mutations in histone modifying genes in congenital heart disease

    OpenAIRE

    Zaidi, Samir; Choi, Murim; Wakimoto, Hiroko; Ma, Lijiang; Jiang, Jianming; Overton, John D; Romano-Adesman, Angela; Bjornson, Robert D.; Breitbart, Roger E.; Brown, Kerry K.; Carriero, Nicholas J.; Cheung, Yee Him; Deanfield, John; Depalma, Steve; Fakhro, Khalid A.

    2013-01-01

    Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births1. Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. By analysis of exome sequencing of parent-offspring trios, we compared the incidence of de novo mutations in 362 severe CHD cases and 264 controls. CHD cases showed a significant excess of protein-altering de novo mutations in genes expressed in the developing heart, with an odds ratio of 7.5 f...

  9. De novo mutations in histone modifying genes in congenital heart disease

    OpenAIRE

    Zaidi, Samir; Choi, Murim; Wakimoto, Hiroko; Ma, Lijiang; Jiang, Jianming; Overton, John D; Romano-Adesman, Angela; Bjornson, Robert D.; Breitbart, Roger E.; Brown, Kerry K.; Carriero, Nicholas J.; Cheung, Yee Him; Deanfield, John; Depalma, Steve; Fakhro, Khalid A.

    2013-01-01

    Congenital heart disease (CHD) is the most frequent birth defect, affecting 0.8% of live births 1 . Many cases occur sporadically and impair reproductive fitness, suggesting a role for de novo mutations. By analysis of exome sequencing of parent-offspring trios, we compared the incidence of de novo mutations in 362 severe CHD cases and 264 controls. CHD cases showed a significant excess of protein-altering de novo mutations in genes expressed in the developing heart, with an odds ratio of 7.5...

  10. Bronchial compression due to stent placement in pulmonary artery in a child with congenital heart disease.

    Science.gov (United States)

    Núñez, Mónica; Beleña, José; Cabeza, Raúl; Beltrán, María

    2005-12-01

    Congenital heart disease, such as transposition of the great vessels (TGV), requires surgical procedures which can lead to important complications. We report on a case of bronchial obstruction following placement of a pulmonary artery stent in a 4-year-old boy who had undergone a Rastelli procedure to correct TGV, ventricular septal defect and pulmonary stenosis. There are many complications that can arise as a consequence of intravascular stents in heart surgery, as well as many causes of bronchial compression. However we have not found any report which describes bronchial compression as a direct consequence of endovascular stent. PMID:16324040

  11. Acute heart failure associated with congenital complete atrioventricular block due to neonatal lupus: case series report

    International Nuclear Information System (INIS)

    Neonatal lupus (NL) defines a set of clinical syndromes characterized by maternal autoantibodies against the RNA protein complex (Ro/SSA or La/SSB) that cross the placenta and potentially lead to fetal tissue damage. Little is known about other cardiac manifestations of NL different from congenital heart block (CHB), as heart failure (HF). Four cases of LN with BCC and acute HF at the first three days of life on average were reported. No complications or deaths were reported at 4,9 months of follow-up. All infants had anti-Ro high titles at the time of diagnosis.

  12. 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.

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

    Institute of Scientific and Technical Information of China (English)

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

    2014-01-01

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

  14. Exercise capacity in adult patients with congenitally corrected transposition of the great arteries

    OpenAIRE

    Fredriksen, P; Chen, A.; Veldtman, G; S Hechter; Therrien, J.; Webb, G.

    2001-01-01

    OBJECTIVE—To examine cardiopulmonary values, static lung function, and ejection fraction in adult patients with congenitally corrected transposition of the great arteries (CCTGA).
PATIENTS AND METHODS—41 patients who had undergone static lung function testing and cardiopulmonary exercise tests with measurements of ejection fraction were identified at the Toronto Congenital Cardiac Centre for Adults.
RESULTS—Aerobic capacity in patients with CCTGA was severely diminished, varying from 30-50% o...

  15. Recommandations Europeennes pour la prise en charge des cardiopathies congenitales de l'adulte.

    OpenAIRE

    Miltner, B.; Seghaye, Marie-Christine; Lancellotti, Patrizio

    2013-01-01

    Improved survival of patients with congenital heart disease has increased the number of these patients at adulthood. In 2010, the European Society of Cardiology has published new guidelines for the management of grown-up congenital heart disease. They provide more detailed information on specific defects in adults. This article summarizes the guidelines for the management of the most common adult congenital heart diseases.

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

    Science.gov (United States)

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

    2007-05-01

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

  17. Heart Health Tests for Diabetes Patients

    Science.gov (United States)

    ... Heart Defects Symptoms & Diagnosis of Congenital Heart Defects Care & Treatment for Congenital Heart Defects Congenital Heart Defects Tools & Resources Diabetes About Diabetes Why Diabetes Matters Understand Your Risk ...

  18. PETER’S TYPE II ANOMALY ASSOCIATED WITH CONGENITAL HEART DEFECT: RARE CASE REPORT

    Directory of Open Access Journals (Sweden)

    Darshan Kumar

    2015-03-01

    Full Text Available PURPOSE: Reporting a case of Peters’ type II with congenital heart defect a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. It is characterized by central corneal opacification secondary to defects in a posterior corneal stroma, Descemet's membrane, and endothelium. Majority of cases are sporadic, bilateral , and associated with other systemic malformations. MATERIAL AND METHOD: A18 year old female presented with a history of bilateral cloudy corneas and diminution of vision since early child hood. Visual acuity was RE 6/60, LE 6/60 with PH improvement in B E 6/36 . Slit lamp examination showed BE micro cornea with central and paracentral macular grade opacity with lenticulo - irido - corneal adhesions. Iris was found to be fused with the posterior s urface of the peripheral cornea with poor formation of the anterior chamber with coloboma of iris. Lens was cataractous. Fundus examination in the left eye showed no abnormality. She was diagnosed as Peters’ type II anomaly. Systemic examination revealed congenital heart defects. Echocardiography showed congenital bicuspid aortic valve, grade 3 aortic regurgitation. RESULT: Patient require penetrating keratoplasty with combined procedure ( C ataract extraction with trabeculectomy. CONCLUSION: Early detectio n of the disease will help in early treatment, with good vision development to combat amblyopia.

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

    Directory of Open Access Journals (Sweden)

    R Abbasi

    2015-03-01

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

  20. Anomalous origin of the left circumflex coronary artery from the pulmonary artery. A very rare congenital anomaly in an adult patient diagnosed by cardiovascular magnetic resonance

    OpenAIRE

    Giannitsis Evangelos; Ringwald Gerd; Korosoglou Grigorios; Katus Hugo A

    2008-01-01

    Abstract Here we report for the first time on the diagnostic potential of cardiovascular magnetic resonance (CMR) to delineate the proximal course of an anomalous left circumflex coronary artery (LCX) originating from the right pulmonary artery in an adult patient with no other form of congenital heart disease. The patient was referred to our institution due to exertional chest discomfort. X-Ray coronary angiography showed a normal left anterior descending coronary artery (LAD) and right coro...

  1. 67Ga imaging in the patients with infective endocarditis after surgery for congenital heart disease

    International Nuclear Information System (INIS)

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

  2. The Molecular Genetics of Congenital Heart Disease: A Review of Recent Developments

    Science.gov (United States)

    Wolf, Michael; Basson, Craig T.

    2010-01-01

    Purpose of review Our understanding of the interactions of genes and pathways during heart development continues to expand with our knowledge of the genetic basis of congenital heart disease (CHD). Along with the discovery of specific genes that cause lesions, recent research has focused on the interactions of some previously identified genes. This review focuses on the progress made during the last year. Recent findings T-box, NK, and GATA transcription factors have known associations with a variety of syndromic and isolated congenital heart defects. Discovery of novel interactions of GATA and T-box transcription factors highlights the direction of recent research. In addition, the critical yet somewhat redundant roles of nkx2.5 and nkx2.7, along with the interaction of nkx2.7 with tbx20, have been elucidated. The contributions of still other transcription factor classes are being elucidated. Further understanding of 22q11.2 deletion and microduplication syndromes and their genetic interactions has also been studied. Recent work also highlights PTPN11 and NOTCH1 in Noonan syndrome. Summary The recent developments in the genetics of CHD are reviewed. In many cases, it is the novel interactions of previously known genes that highlight this year’s developments. These interactions will ultimately lead to better understanding of downstream transcriptional or signaling pathways. PMID:20186050

  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. PMID:27055756

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

    International Nuclear Information System (INIS)

    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. Transparency and Public Reporting of Pediatric and Congenital Heart Surgery Outcomes in North America.

    Science.gov (United States)

    Jacobs, Jeffrey P; Jacobs, Marshall L

    2016-01-01

    Health care is embarking on a new era of increased transparency. In January 2015, the Society of Thoracic Surgeons (STS) began to publicly report outcomes of pediatric and congenital cardiac surgery using the 2014 Society of Thoracic Surgeons Congenital Heart Surgery Database (STS CHSD) Mortality Risk Model. Because the 2014 STS CHSD Mortality Risk Model adjusts for procedural factors and patient-level factors, it is critical that centers are aware of the important impact of incomplete entry of data in the fields for patient-level factors. These factors are used to estimate expected mortality, and incomplete coding of these factors can lead to inaccurate assessment of case mix and estimation of expected mortality. In order to assure an accurate assessment of case mix and estimate of expected mortality, it is critical to assure accurate completion of the fields for patient factors, including preoperative factors. It is crucial to document variables such as whether the patient was preoperatively ventilated or had an important noncardiac congenital anatomic abnormality. The lack of entry of these variables will lead to an underestimation of expected mortality. The art and science of assessing outcomes of pediatric and congenital cardiac surgery continues to evolve. In the future, when models have been developed that encompass other outcomes in addition to mortality, pediatric and congenital cardiac surgical performance may be able to be assessed using a multidomain composite metric that incorporates both mortality and morbidity, adjusting for the operation performed and for patient-specific factors. It is our expectation that in the future, this information will also be publicly reported. In this era of increased transparency, the complete and accurate coding of both patient-level factors and procedure-level factors is critical. PMID:26714994

  6. Case series: Dexmedetomidine and ketamine for anesthesia in patients with uncorrected congenital cyanotic heart disease presenting for non-cardiac surgery

    Directory of Open Access Journals (Sweden)

    Rakhee Goyal

    2013-01-01

    Full Text Available The number of patients with uncorrected congenital cyanotic heart disease is less but at times some may present for non-cardiac surgery with a high anesthetic risk. Some of these may even be adults with compromised cardiopulmonary physiology posing greater challenges to the anesthesiologist. The authors have used a combination of dexmedetomidine and ketamine for anesthesia for non cardiac surgery in five patients with cyanotic heart disease and right to left shunt (3-Eisenmenger′s syndrome, 2-Tetralogy of Fallot. The sympathoinhibitory effects of dexmedetomidine were balanced with the cardiostimulatory effects of ketamine, thereby maintaining good cardiovascular stability. The analgesia was good and there was no postoperative agitation.This drug combination was effective and safe for patients with cyanotic heart disease for non cardiac surgeries.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-12-15

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

  8. 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

  9. Congenital tracheoesophageal fistula: A rare and late presentation in adult patient

    Directory of Open Access Journals (Sweden)

    Waseem M Hajjar

    2012-01-01

    Full Text Available Congenital H-type tracheoesophageal fistula (TEF in adults is a rare presentation and can test the diagnostic acumen of a surgeon, endoscopist, and the radiologist. These undetected fistulas may present as chronic lung disease of unknown origin because repeated aspirations can lead to recurrent lung infections and bronchiectasis. Congenital TEFs should be considered in the diagnosis of infants and young adults with recurrent respiratory distress and/or infections. Here, we present the successful management of this rare case in an adult patient.

  10. Health considerations for children with congenital heart disease in school: part 1.

    Science.gov (United States)

    O'Brien, Patricia; Evangelista, Juli-anne; Green, Angela; Uzark, Karen

    2012-11-01

    School participation for children with congenital heart disease (CHD) can be challenging. Despite advances in treatment that have increased survival to adulthood and decreased morbidity, concerns remain about their health and safety in the school environment. This article, the first in a two-part series, provides an overview of the health issues involving school-age children with CHD. School nurses are in a unique position to advocate for the child's health care needs in the school setting, facilitate communication with the health care team, educate school personnel, and participate in the individualized educational planning process. PMID:23193726

  11. Upper Sternal Cleft With a Complex Congenital Heart Defect: Repair in a Single Stage.

    Science.gov (United States)

    Al-Yamani, Mohammed; Lavrand, Frederic; Thambo, Jean-Benoit; Roubertie, François

    2016-02-01

    Sternal clefts are extremely rare in association with complex congenital heart defects, and their management can be challenging. Complete surgical repair in early infancy, of both anomalies in a single stage, is advocated. Different surgical techniques exist for isolated sternal cleft repair, but they do not consider the difficulties of combining sternal defect closure and a cardiac operation with the unavoidable postoperative cardiac edema. We describe a successful surgical technique to repair a sternal cleft in a 3-month-old infant in a concomitant cardiac operation using an absorbable polyglactin 910 mesh plate and sternal osseous autografting to avoid postoperative cardiac distention. PMID:26777935

  12. Prevalence of Congenital Heart Defects Associated with Down Syndrome in Korea

    OpenAIRE

    Kim, Min-A; Lee, You Sun; Yee, Nan Hee; Choi, Jeong Soo; Choi, Jung Yun; Seo, Kyung

    2014-01-01

    Congenital heart defect (CHD) is common in infants with Down syndrome (DS), which is the principle cause of mortality. However, there is no data available for the frequency and types of CHD in infants with DS in Korea. We investigated the frequency of CHD in infants with DS in Korea. After the survey on birth defects was conducted throughout the country, the prevalence of CHD in DS in 2005-2006 was calculated. This study was conducted based on the medical insurance claims database of the Nati...

  13. Oral-Dental Hygiene and Oral Microorganisms in Children With and Without Congenital Heart Disease

    OpenAIRE

    Panggabean, Emiwaty P.; Irsa, Lily; Anwar, Rosihan; Lubis, Munar; Rusdidjas; Pasaribu, Syahril

    2005-01-01

    Objective This study was done to compare the dental and oral hygiene status of children with and without congenital heart disease (CHD) by investigating oral microorganisms and dental and oral hygiene indices. Methods A cross-sectional study was done on children aged 2 to 15 years from April 2002 to December 2003 at the Department of Child Health, Haji Adam Malik Hospital, Medan. There were two subject groups, the first consisting of children with CHD and the second of those without. The d...

  14. Anesthetic management for separation of thoracopagus twins with complex congenital heart disease: a case report.

    Science.gov (United States)

    Seo, Misook; Chung, In-Sun; Karm, Myong-Hwan; Oh, Ji Mi; Shin, Won-Jung

    2015-06-01

    Although thoracopagus twins joined at the upper chest are the most common type of conjoined twins, the separation surgery in these cases has a higher mortality rate. Here, we describe an anesthetic management approach for the separation of thoracopagus conjoined twins sharing parts of a congenitally defective heart and liver. We emphasize the importance of vigilant intraoperative hemodynamic monitoring for early detection of unexpected events. Specifically, real-time continuous monitoring of cerebral oximetry using near-infrared spectroscopy allowed us to promptly detect cardiac arrest and hemodynamic deterioration. PMID:26045935

  15. The combined use of cardioangiography and ultrasonography in interventional therapy for congenital heart disease in children

    International Nuclear Information System (INIS)

    Objective: To assess the respective value and limitation of cardioangiography and ultrasonography in interventional therapy for congenital heart disease in children, and to discuss the clinical significance of the combined use of both examinations. Methods: A total of 162 children with congenital heart disease, screened by ultrasonography, were enrolled in this study. The disorders included VSD (n = 50), PDA (n = 96) and PS (n = 16). Before the interventional therapy all the cases accepted cardioangiography and ultrasonography examinations, and the diameter of the abnormal passage was measured. The difference in the diameter between two examinations was compared and statistically analyzed by using paired t test. All the cases accepted both examinations after the interventional therapy to check the location of the occluder and the result of balloon dilatation. Results: Both cardiovascular angiography and ultrasonography could make a definite diagnosis of congenital heart disease in children, and could well display the location and shape of the abnormalities. The diameter of VSD (n = 50) measured by cardioangiography and ultrasonography was (4.93 ± 2.73) mm and (5.66 ± 2.77) mm respectively, with no significant statistical difference existing between two methods (P > 0.05). The diameter at the narrowest site of PDA (n = 96) measured by cardioangiography and ultrasonography was (3.22 ± 1.45) mm and (3.96 ± 1.42) mm respectively, with a significant difference existing between two methods (P 0.05). During the operation of VSD, the monitoring ultrasonography revealed that the valvular opening and closing was interfered by the occluder in 9 cases, so the occluder was re-adjusted till it was fixed to proper position. After the interventional therapy for VSD and PDA, cardioangiography detected a small residual shunt in 7 cases, which completely disappeared 24 hours later on ultrasonography. After balloon dilation in all 16 children with PS the right ventricle

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

    International Nuclear Information System (INIS)

    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

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

    Directory of Open Access Journals (Sweden)

    AidaSalameh

    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.

  18. Identity dynamics and peer relationship quality in adolescents with a chronic disease: the sample case of congenital heart disease

    OpenAIRE

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

    2012-01-01

    Objective: Identity formation has been found to relate to psychosocial and disease-specific functioning in chronically ill adolescents. Therefore, examining antecedent factors of identity formation in this population is needed. The main goal of the present longitudinal study was to examine how peer relationship quality influenced identity formation in adolescents with congenital heart disease (CHD). Method: Adolescents with CHD were selected from the database of pediatric and congenital ...

  19. Living with half a heart - experiences of young adults with single ventricle physiology

    DEFF Research Database (Denmark)

    Overgaard, Dorthe; King, Catriona; Christensen, Rie F;

    2013-01-01

    have a 90% survival rate. Several studies have described the somatic status of SVP patients using clinical parameters; however, only a few studies have researched the life perspectives and coping skills in this patient group. The aim of this study was to investigate how young adults with an SVP......BACKGROUND AND RESEARCH OBJECTIVE:: Approximately 3% of children with congenital heart disease born in Denmark have single ventricle physiology (SVP). In previous decades, these children did not survive into adulthood. However, because of new surgical techniques and improved medical care, they now...

  20. Diaphragmatic palsy after cardiac surgical procedures in patients with congenital heart

    Directory of Open Access Journals (Sweden)

    Talwar Sachin

    2010-01-01

    Full Text Available Paralysis of diaphragm on one or, exceptionally, both sides is a common cause of delayed recovery and excessive morbidity following pediatric cardiac surgery. The consequences of this complication after all forms of congenital heart surgery in newborns and young infants can be potentially serious. The impact of diaphragmatic palsy on the physiology after single ventricle palliations is particularly significant. It is necessary for all professionals taking care of children with heart disease to be familiar with the etiology, diagnosis, and management of this condition. Early recognition and prompt management of diaphragmatic palsy can potentially reduce the duration of mechanical ventilation and intensive care in those who develop this complication. This review summarizes the anatomy of the phrenic nerves, reasons behind the occurrence of diaphragmatic palsy, and suggests practical guidelines for management.

  1. The Society of Thoracic Surgeons Congenital Heart Surgery Database: 2016 Update on Outcomes and Quality.

    Science.gov (United States)

    Jacobs, Jeffrey P; Mayer, John E; Mavroudis, Constantine; O'Brien, Sean M; Austin, Erle H; Pasquali, Sara K; Hill, Kevin D; He, Xia; Overman, David M; St Louis, James D; Karamlou, Tara; Pizarro, Christian; Hirsch-Romano, Jennifer C; McDonald, Donna; Han, Jane M; Dokholyan, Rachel S; Tchervenkov, Christo I; Lacour-Gayet, Francois; Backer, Carl L; Fraser, Charles D; Tweddell, James S; Elliott, Martin J; Walters, Hal; Jonas, Richard A; Prager, Richard L; Shahian, David M; Jacobs, Marshall L

    2016-03-01

    The Society of Thoracic Surgeons Congenital Heart Surgery Database is the largest congenital and pediatric cardiac surgical clinical data registry in the world. It is the platform for all activities of The Society of Thoracic Surgeons related to the analysis of outcomes and the improvement of quality in this subspecialty. This article summarizes current aggregate national outcomes in congenital and pediatric cardiac surgery and reviews related activities in the areas of quality measurement, performance improvement, and transparency. The reported data about aggregate national outcomes are exemplified by an analysis of 10 benchmark operations performed from January 2011 to December 2014 and documenting overall discharge mortality (interquartile range among programs with more than 9 cases): off-bypass coarctation, 1.0% (0.0% to 0.9%); ventricular septal defect repair, 0.7% (0.0% to 1.1%); tetralogy of Fallot repair, 1.0% (0.0% to 1.7%); complete atrioventricular canal repair, 3.2% (0.0% to 6.5%); arterial switch operation, 2.7% (0.0% to 5.6%); arterial switch operation plus ventricular septal defect, 5.3% (0.0% to 6.7%); Glenn/hemiFontan, 2.1% (0.0% to 3.8%); Fontan operation, 1.4% (0.0% to 2.4%); truncus arteriosus repair, 9.6% (0.0 % to 11.8%); and Norwood procedure, 15.6% (10.0% to 21.4%). PMID:26897186

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

    DEFF Research Database (Denmark)

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

    2001-01-01

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

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

    International Nuclear Information System (INIS)

    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)

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

    International Nuclear Information System (INIS)

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-08-15

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

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

    Directory of Open Access Journals (Sweden)

    Mohammad Dalili

    2011-02-01

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

  7. 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.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2009-12-15

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

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

    International Nuclear Information System (INIS)

    The measurement error for right ventricular (RV) size and function assessed by cardiac MRI (CMRI) in congenital heart disease has not been fully characterized. As CMRI parameters are being increasingly utilized to make clinical decisions, defining error in the clinical setting is critical. This investigation examines the repeatability of CMRI for RV size and function. Forty consecutive people with congenital heart disease involving the RV were retrospectively identified. Contouring of RV volumes was performed by two expert CMRI clinicians. The coefficient of variability and repeatability coefficients were calculated. Repeatability coefficients were multiplied by the mean value for each group studied to define a threshold beyond which measurement error was unlikely to be responsible. The variability for indexed RV end-diastolic volume = 3.2% and 3.3% for intra- and interobserver comparisons, respectively. The repeatability coefficients were 13.2% and 14.9% for intra- and interobserver comparisons, which yielded threshold values of 15.1 ml/m2 and 20.2 ml/m2, respectively. For RV ejection fraction (EF), the repeatability coefficients for intra- and interobserver comparisons were 5.0% and 6.0%, which resulted in threshold values of 2.6 EF% and 3.0 EF%. The threshold values generated can be used during serial assessment of RV size and function. (orig.)

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

    International Nuclear Information System (INIS)

    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.)

  11. Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease

    Science.gov (United States)

    Werner, Petra; Paluru, Prasuna; Simpson, Anisha M.; Latney, Brande; Iyer, Radhika; Brodeur, Garrett M.; Goldmuntz, Elizabeth

    2014-01-01

    Congenital heart defects (CHDs) are the most common major birth defects and the leading cause of death from congenital malformations. The etiology remains largely unknown, though genetic variants clearly contribute. In a previous study, we identified a large copy number variant (CNV) that deleted 46 genes in a patient with a malalignment type ventricular septal defect (VSD). The CNV included the gene NTRK3 encoding neurotrophic tyrosine kinase receptor C (TrkC), which is essential for normal cardiogenesis in animal models. To evaluate the role of NTRK3 in human CHDs, we studied 467 patients with related heart defects for NTRK3 mutations. We identified four missense mutations in four patients with VSDs that were not found in ethnically matched controls and were predicted to be functionally deleterious. Functional analysis using neuroblastoma cell lines expressing mutant TrkC demonstrated that one of the mutations (c.278C>T, p.T93M) significantly reduced autophosphorylation of TrkC in response to ligand binding, subsequently decreasing phosphorylation of downstream target proteins. In addition compared to WT, three of the four cell lines expressing mutant TrkC showed altered cell growth in low-serum conditions without supplemental NT-3. These findings suggest a novel pathophysiological mechanism involving NTRK3 in the development of VSDs. PMID:25196463

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

    International Nuclear Information System (INIS)

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

  13. Intra-operative trans-esophageal echocardiography in congenital heart disease

    Directory of Open Access Journals (Sweden)

    Garg Rajnish

    2009-01-01

    Full Text Available Intra-operative trans-esophageal echocardiography (TEE is an important monitoring and diagnostic tool used during surgery for repair of congenital heart disease. In several studies,TEE has been shown to provide additional intra-cardiac anatomic information. Its ability to be used intra- operatively before and after cardiac repair makes it a unique tool. Before TEE was available for intra-operative use, significant residual abnormalities were frequently not detected. The result was often substantial post-operative morbidity and mortality and sometimes the need for re-operation. According to practice guidelines established by the Society of Cardiovascular Anesthesiologists and the American Society of Anesthesiologists, there is strong evidence for the usefulness of TEE in surgery for congenital heart disease because it significantly improves the clinical outcome of these patients. Before surgical correction, TEE helps confirm diagnosis and spot any additional lesion, while after the surgical correction, it provides baseline parameters for comparison after the surgical correction.

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

    International Nuclear Information System (INIS)

    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

  15. Heart Transplant

    Science.gov (United States)

    ... 2015 A heart transplant gives a patient with congenital heart disease the opportunity to have a normal heart with ... pulmonary artery and left atrium. In patients with congenital heart disease, the surgeon may simultaneous transplant the lungs and ...

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

    Directory of Open Access Journals (Sweden)

    José Luis Torres-Cosme

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

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

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

    2015-01-01

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

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

    International Nuclear Information System (INIS)

    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.

  20. 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.

  1. Heart Failure: Unique to Older Adults

    Science.gov (United States)

    ... provider may suggest other ways to help your body reduce the extra fluid. Depression and Heart Failure If you have chronic heart ... more often, tell your healthcare professional right away. Depression in ... and other chemicals in your body that can be damaging to your heart and ...

  2. Pediatric cardiology. Clinical and practical experiences with heart diseases of children, juveniles and young adults

    International Nuclear Information System (INIS)

    The book on pediatric cardiology covers the following chapters: (I) Fundamentals and diagnostics: pediatric cardiologic anamnesis, electrocardiograms, thorax X-radiography, MRT and CT of the heart, nuclear medical diagnostics, exercise tests, heart catheter examination, electrophysiological tests. (II) Leading symptoms: Cyanosis, cardiac murmur, thorax pain, palpitation, syncopes. (III) Disease pictures: congenital heart defects, acquired heart defects, cardiomyopathies, heart rhythm disturbances, heart insufficiency, arterial hypertension, pulmonary hypertension, other heart involving syndromes. (IV) Therapy: Catheter interventional therapy, post-surgical pediatric cardiac therapy, surgery involving the life-support machine, mechanical cardiovascular support systems, initial treatment of newborns with critical heart defects, heart transplantation, vaccination of children with heart diseases, medicinal therapy.

  3. 76. Profile and spectrum of congenital heart defect in pediatric patient with down syndrome

    Directory of Open Access Journals (Sweden)

    G. Alsuhaibani

    2016-07-01

    Full Text Available Down syndrome is one of the most common chromosomal abnormality worldwide. It occurs in 1 of every 800 live births. Almost one-half of patients with Down Syndrome have congenital heart defect. Our objective is to describe the frequency and spectrum of congenital heart defect (CHD among children with Down Syndrome in Saudi Arabia and identify the rate of primary and secondary pulmonary hypertension among pediatric patients with Down syndrome. Cross-sectional, retrospective study of the cardiac anomalies among 331 pediatric patients (0–18 years with Down Syndrome in King Khalid University Hospital (KKUH from August 2001 till October 2014. The demographic data, reason for referral, echocardiography data including systolic function parameters, the presence of CHD, type and details of CHD, presence of pulmonary hypertension (PHTN, history of cardiac surgeries or transcatheter interventions. Among the 331 pediatric patients with Down Syndrome; 230 patients (69.5% have Congenital Heart Defect (CHD. The patients with CHD were significantly younger (median age 3 months with lower weight (P-value <0.05 and height (P-value <0.05 compared to patients with no CHD. The median age at first assessment was 3 months. The most common type of CHDs among DS pediatric patients was atrial septal defect secundum (ASD II which account for 33.5% of all CHD followed by ventricular septal defect (VSD which account for 26.5%, then atrioventricular septal defect (AVSD 21.7% and moderate to large patent ductus arteriosus (PDA 21.7%. There is another (11.7% who have other CHDs. Pulmonary hypertension was present in 32% of patients with CHD vs 4% among patients with no CHD. There is significant relationship between CHD and pulmonary hypertension with odds ratio 11.3 (CI 3.99–31.83, P-value <0.05. 15% of patients underwent either cardiac surgery or transcatheter intervention. Almost two thirds of Down Syndrome patients have CHD with pulmonary hypertension affecting almost

  4. 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.

  5. Giant Congenital Cerebriform Melanocytic Nevus of the Scalp in Adult

    Directory of Open Access Journals (Sweden)

    Shashikala Krishnamurthy

    2014-04-01

    Full Text Available Congenital melanocytic nevi are defined as benign nevomelanocytic proliferation present at birth. They are rare lesions and occur in approximately 1% of new-borns and are usually classified according to their size. We report a case of 32 year old female who presented with a giant cerebriform lesion of the scalp which was present since birth. Diagnosis of Giant congenital melanocytic nevi was made on the basis of definite histological criteria. Wide excision of the lesion was done with split skin graft. This case is unique due to the fact that this young female lived with this disfiguring lesion for 3 decades and never consulted any physician for cosmetic purpose and fortunately the lesion never turned malignant. [J Interdiscipl Histopathol 2014; 2(2.000: 108-111

  6. 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...

  7. Providing Guidance for School Personnel Making Decisions in the Service of School Children with Congenital Heart Disease

    Science.gov (United States)

    Roberts, Jillian; MacMath, Sheryl

    2006-01-01

    Due to improved medical procedures, more and more children with congenital heart disease are entering the school system. In order to help both school and health professionals involved in the education of children, we provide a brief review of the literature, review real-life dilemmas that school personnel face on a daily basis, and interpret the…

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

    Science.gov (United States)

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

    2011-01-01

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

  9. Prospective validation and assessment of cardiovascular and offspring risk models for pregnant women with congenital heart disease

    NARCIS (Netherlands)

    Balci, A.; Sollie-Szarynska, K.M.; Bijl, A.G. van der; Ruys, T.P.; Mulder, B.J.; Roos-Hesselink, J.W.; Dijk, A.P.J. van; Wajon, E.M.; Vliegen, H.W.; Drenthen, W.; Hillege, H.L.; Aarnoudse, J.G.; Veldhuisen, D.J. van; Pieper, P.G.

    2014-01-01

    OBJECTIVES: Adequate prepregnancy prediction of maternal cardiovascular and offspring risk is important for counselling and management of pregnancy in women with congenital heart disease (CHD). Therefore we performed a study to identify the optimal assessment strategy for estimating the risk of preg

  10. Prospective validation and assessment of cardiovascular and offspring risk models for pregnant women with congenital heart disease

    NARCIS (Netherlands)

    Balci, Ali; Sollie-Szarynska, Krystyna M.; van der Bijl, Antoinette G. L.; Ruys, Titia P. E.; Mulder, Barbara J. M.; Roos-Hesselink, Jolien W.; van Dijk, Arie P. J.; Wajon, Elly M. C. J.; Vliegen, Hubert W.; Drenthen, Willem; Hillege, Hans L.; Aarnoudse, Jan G.; van Veldhuisen, Dirk J.; Pieper, Petronella G.

    2014-01-01

    Objectives Adequate prepregnancy prediction of maternal cardiovascular and offspring risk is important for counselling and management of pregnancy in women with congenital heart disease (CHD). Therefore we performed a study to identify the optimal assessment strategy for estimating the risk of pregn

  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. Ai

  12. 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.

    2014-01-01

    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), Univer

  13. 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 norm

  14. The impact of congenital heart diseases on the quality of life of patients and their families in Saudi Arabia

    OpenAIRE

    Azhar, Ahmad S.; AlShammasi, Zahra H.; Higgi, Rawan E.

    2016-01-01

    Objectives: To assess the impact of congenital heart diseases (CHDs) on bio-psychosocial aspects of the quality of life (QOL) of patients and their families. Methods: A cross-sectional study was carried out between May 2014 and August 2015, including children aged

  15. 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.)

  16. Sociodemographic and clinical profile of children with congenital heart disease assisted at a hospital institution

    Directory of Open Access Journals (Sweden)

    Mirna Albuquerque Frota

    2014-06-01

    Full Text Available Objective: To characterize the sociodemographic and clinical profile of children with congenital heart disease assisted at a hospital institution. Methods: A descriptive, crosssectional study conducted in the pediatric cardiology outpatient clinic of a hospital in Fortaleza, CE, Brazil, in the period from March to August 2012. It comprised a nonrandom convenience sample of 80 parents of children with heart disease aged 5 to 12 years. Information was obtained from primary data of medical records and through questionnaires covering the parent’s sociodemographic characteristics, family data and the children’s clinical aspects. Results: Regarding socioeconomic data, 77 (96.2% caregivers were female, 50 (62.5% were married or in a stable relationship, 39 (48.7% had 10-12 years of formal education, and 69 (82.6% reported a household income between 1 and 2 minimum wages. In the sample of children studied, 43 (53.8% were female. The median age of the children was 8.4 years, ranging from 5-13 years. As to the age at the heart disease diagnosis, 44 (55% occurred under the age of 6 months, regardless of the type of cardiopathy. It was detected that 19 (23.75% were related to the disease. Conclusion: Children’s caregivers were predominantly their mothers, with low income and satisfactory schooling. Early diagnosis was predominant, mainly among the children with cyanotic cardiopathy. doi:10.5020/18061230.2014.p239

  17. Circulating microRNAs as potential biomarkers for diagnosis of congenital heart defects

    Science.gov (United States)

    Xie, Wan-qin; Zhou, Lin; Chen, Yong; Ni, Bin

    2016-01-01

    BACKGROUND: MicroRNAs are small non-coding RNAs of approximately 22 nucleotides in length, and play important regulatory roles in normal heart development and the pathogenesis of heart diseases. Recently, a few prospective studies have implicated the diagnostic role of microRNAs in congenital heart defects (CHD). DATA RESOURCES: This review retrieved the research articles in PubMed focusing on the altered microRNAs in cardiac tissue or serum of patients with CHD versus healthy normal controls, as well as the studies exploring circulating microRNAs as potential biomarkers for (fetal) CHD. RESULTS: Most of the studies of interest were conducted in recent years, implicating that the topic in this review is a newly emerging field and is drawing much attention. Moreover, a number of differentially expressed microRNAs between CHD specimens and normal controls have been reported. CONCLUSION: Circulating microRNAs may serve as potential biomarkers for diagnosis of CHD in the future, with more efforts paving the road to the aim. PMID:27313801

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

    International Nuclear Information System (INIS)

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

  19. Non Invasive Transcutaneous Carbondioxide Monitoring in Adult Open Heart Surgery

    OpenAIRE

    UÇAR, P.; GAZİOĞLU, G.; ERDEMLİ, Ö.; ÇİÇEK, Ö. F.; DEMİR, A.

    2013-01-01

    Non Invasive Transcutaneous Carbondioxide Monitoring in Adult Open Heart SurgeryObjective: Follow-up of CO level during open heart surgery is crucial in terms of monitoring and management of the metabolic status. In this prospective observational study,measurement of end tidal CO and arterial CO levels in adult open heart surgery was compared with transcutaneous CO monitoring which is a non-invasive method.Material and Method: The study included 22 ASA II-III patients with an age range of 30-...

  20. 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. PMID:26557043

  1. Cardiovascular Magnetic Resonance Imaging in the Assessment of Myocardial Blood Flow, Viability, and Diffuse Fibrosis in Congenital and Acquired Heart Disease

    OpenAIRE

    Pham, Hoang Minh

    2014-01-01

    Myocardial ischemia may occur after surgical correction of congenital heart defects involving the coronary arteries, in patients with congenital coronary artery anomalies, or in acquired heart disease. To assess myocardial ischemia disease in children, we used cardiac MRI as a non-invasive and radiation-free method to evaluate myocardial perfusion, viability, diffuse myocardial fibrosis, and heart function, to guide further therapy and for a better understanding of the pathophysiology of the ...

  2. Prevalence of arrhythmias among children below 15 years of age with congenital heart diseases attending Mulago National Referral Hospital, Uganda

    OpenAIRE

    Batte, Anthony; Lwabi, Peter; Lubega, Sulaiman; Kiguli, Sarah; Nabatte, Violette; Karamagi, Charles

    2016-01-01

    Background In Uganda, few children with congenital heart diseases (CHD) benefit from early corrective cardiac surgery. These children are at high risk of developing heart failure and electrolyte imbalances; factors which increase their risk of developing arrhythmias. This study aimed to determine the prevalence and factors associated with arrhythmias among children with congenital heart diseases receiving care at Mulago Hospital. Methods This was a cross-sectional study carried out from Augus...

  3. Intervening on Affective Involvement and Expression of Emotions in an Adult with Congenital Deafblindness

    Science.gov (United States)

    Martens, Marga A. W.; Janssen, Marleen J.; Ruijssenaars, Wied A. J. J. M.; Huisman, Mark; Riksen-Walraven, J. Marianne

    2014-01-01

    This study examined the effects of a 20-week intervention to foster affective involvement during interaction and communication between an adult with congenital deafblindness (CDB) and his caregivers in a group home and a daytime activities center. Using a single-subject design, we examined whether the intervention increased affective involvement…

  4. Spirituality: A Coping Mechanism in the Lives of Adults with Congenital Disabilities

    Science.gov (United States)

    Specht, Jacqueline A.; King, Gillian A.; Willoughby, Colleen; Brown, Elizabeth G.; Smith, Linda

    2005-01-01

    The purpose of this study was to gain insight into the perspective of individuals with congenital disabilities about spirituality as a coping mechanism during crucial times in their lives, Qualitative analysis of interviews assessing turning points in the lives of 15 adults (6 women and 9 men; M = 37 years) with spina bifida, cerebral palsy, or…

  5. [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%. PMID:22523843

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

    DEFF Research Database (Denmark)

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

    2015-01-01

    PURPOSE: This study investigates whether subgroups of different health-related fitness (HrF) profiles exist among girls and boys with complex congenital heart disease (ConHD) and how these are associated with lifestyle behaviors. METHODS: We measured the cardiorespiratory fitness, muscle strength......, and body composition of 158 adolescents aged 13-16 years with previous surgery for a complex ConHD. Data on lifestyle behaviors were collected concomitantly between October 2010 and April 2013. A cluster analysis was conducted to identify profiles with similar HrF. For comparisons between clusters...... the Robust clusters reported leading a physically active lifestyle and participants in the Less robust cluster reported leading a sedentary lifestyle. Diagnoses were evenly distributed between clusters. CONCLUSIONS: The cluster analysis attributed some of the variability in cardiorespiratory fitness...

  7. The role of X-rays in children with congenital heart disease

    International Nuclear Information System (INIS)

    Roentgen examinations are among the most important imaging modalities used for the evaluation of children with congenital heart disease. While skilled interpretation of a chest radiograph may disclose important morphological changes and to some extent even indicate the functional status of the cardiovascular system, more detailed visualization of any anomalies that may be present is obtained by cardioangiography. Non-ionic contrast media cause only minor adverse events and relatively high doses can be used, both for individual injections and in toto. With modern equipment the optimal projections are easily obtained and digital techniques increase the diagnostic yield. The use of low toxicity contrast media and modern equipment will also help to improve results of the many interventional procedures which have been established during the last few years. (author). 11 refs.; 7 figs

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

    Directory of Open Access Journals (Sweden)

    Joseph M. Geskey

    2012-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2009-12-15

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

  10. Techniques for transcatheter recanalization of completely occluded vessels and pathways in patients with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Latson Larry

    2010-01-01

    Full Text Available Occlusions of major vessels in patients with congenital heart disease may occur due to a variety of factors. These occlusions are often felt to be best addressed surgically; however, we and others have been successful in recanalizing most of these vessels in the catheterization laboratory. Most of these patients will require multiple procedures in the catheterization laboratory to ensure vessel patency and to facilitate vessel growth. Physicians performing the procedure should have a thorough understanding of the anatomic considerations for the intended procedure and have access to a variety of devices and equipment to optimize the result of the procedure. In this article, we review some of the technical aspects that are vital for the success of the procedure.

  11. Techniques for transcatheter recanalization of completely occluded vessels and pathways in patients with congenital heart disease

    International Nuclear Information System (INIS)

    Occlusions of major vessels in patients with congenital heart disease may occur due to a variety of factors. These occlusions are often felt to be best addressed surgically; however, we and others have been successful in recanalizing most of these vessels in the catheterization laboratory. Most of these patients will require multiple procedures in the catheterization laboratory to ensure vessel patency and to facilitate vessel growth. Physicians performing the procedure should have a thorough understanding of the anatomic considerations for the intended procedure and have access to a variety of devices and equipment to optimize the result of the procedure. In this article, we review some of the technical aspects that are vital for the success of the procedure

  12. The threshold of human endurance: 60 years of a congenital heart defect.

    Science.gov (United States)

    Rodrigues, Bruno; Moreira, Davide; Delgado, Anne; Gama, Pedro; Nascimento, Celeste; Pipa, João; Santos, Oliveira

    2011-01-01

    Long term survival in patients with partial atrioventricular septal defect (PAVSD) without adequate surgical management is very rare. The authors present the case of a 60 year-old woman who was referred to our hospital with dyspnea and worsening of general condition. A heart defect was diagnosed at the age of 25 years, but at the time the patient declined surgery. The patient underwent echocardiographic and haemodynamic evaluation prior to corrective surgery. The present report highlights the complications of chronic volume overload due to a congenital cardiac defect characterized by left--to-right shunts and atrio-ventricular valvular regurgitation with its haemodynamic implications. Despite the haemodynamic burden, the patient underwent successful corrective surgery, demonstrating the resilience of human endurance facing various comorbidities. PMID:23610764

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

    Science.gov (United States)

    Hoffman, Julien I E

    2016-06-01

    Now that pulse oximetry is used widely to screen for critical congenital heart disease, it is time to consider whether this screening method is applicable to those who live at high altitudes. Consideration of basic physical principles and reports from the literature indicate that not only is the 95 % cutoff point for arterial oxygen saturation incorrect at high altitudes, but the lower saturations are accompanied by greater variability and therefore there is the possibility of a greater percentage of false-positive screening tests at high altitudes. Because of ethnic differences in response to high altitudes, normative data will have to be collected separately in different countries and perhaps for different ethnic groups. PMID:27090652

  14. Legal and Ethical Considerations in Allowing Parental Exemptions From Newborn Critical Congenital Heart Disease (CCHD) Screening.

    Science.gov (United States)

    Hom, Lisa A; Silber, Tomas J; Ennis-Durstine, Kathleen; Hilliard, Mary Anne; Martin, Gerard R

    2016-01-01

    Critical congenital heart disease (CCHD) screening is rapidly becoming the standard of care in the United States after being added to the Recommended Uniform Screening Panel (RUSP) in 2011. Newborn screens typically do not require affirmative parental consent. In fact, most states allow parents to exempt their baby from receiving the required screen on the basis of religious or personally held beliefs. There are many ethical considerations implicated with allowing parents to exempt their child from newborn screening for CCHD. Considerations include the treatment of religious exemptions in our current legal system, as well as medical and ethical principles in relation to the rights of infants. Although there are significant benefits to screening newborns for CCHD, when a parent refuses for religious or personal beliefs, in the case of CCHD screening, the parental decision should stand. PMID:26734736

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

    International Nuclear Information System (INIS)

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

  16. Management of the Low Cardiac Output Syndrome Following Surgery for Congenital Heart Disease.

    Science.gov (United States)

    Chandler, Heather K; Kirsch, Roxanne

    2016-01-01

    The purpose of this review is to discuss the management of the low cardiac output syndrome (LCOS) following surgery for congenital heart disease. The LCOS is a well-recognized, frequent post-operative complication with an accepted collection of hemodynamic and physiologic aberrations. Approximately 25% of children experience a decrease in cardiac index of less than 2 L/min/m2 within 6-18 hours after cardiac surgery. Post-operative strategies that may be used to manage patients as risk for or in a state of low cardiac output include the use of hemodynamic monitoring, enabling a timely and accurate assessment of cardiovascular function and tissue oxygenation; optimization of ventricular loading conditions; the judicious use of inotropic agents; an appreciation of and the utilization of positive pressure ventilation for circulatory support; and, in some circumstances, mechanical circulatory support. All interventions and strategies should culminate in improving the relationship between oxygen supply and demand, ensuring adequate tissue oxygenation. PMID:26585039

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-01-15

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

  18. Clinical application of ECG-gated 256-slice CT angiography for diagnosis of congenital heart disease

    International Nuclear Information System (INIS)

    Objective: To investigate the clinical application of ECG-gated 256-slice CT angiography for diagnosis of congenital heart disease, and to evaluate the relationship of the image quality and radiation dose between prospective ECG-gated and retrospective ECG-gated cardiac CT angiography (CTA). Methods: Sixty patients who doubt congenital heart disease underwent cardiac CTA, and they were randomly divided into two groups. Thirty patients in group A underwent prospective ECG-gated cardiac CTA, and thirty patients in group B underwent retrospective ECG-gated cardiac CTA. Then the homogeneous enhancement of vascular structures, stair-step artifact, overall image quality and radiation dose were evaluated. Results: The homogeneous enhancement of vascular structures were 2.8±0.3 and 2.7±0.6, respectively, in two groups; and there was no statistical significance (P>0.05). The stair-step artifact were 3.0±0.9 and 3.1±0.9, respectively, in two groups; and there was also no statistical significance (P>0.05). The overall image quality were 3.0±0.8 and 3.1±0.9, respectively, in two group; and there was statistical significance (P>0.05). However, the effective dose were (5.24±0.52) mSv and (16.68±1.49) mSv, respectively, in two groups; and there was statistical significance (P<0.001). Conclusion: Compared with retrospective ECG-gated cardiac CTA, prospective ECG-gated cardiac CTA can reduce radiation dose about 68.6% , while maintaining the image quality which could be made diagnosis. (authors)

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

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

    2013-10-01

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

  20. Repeatability of heart rate variability in congenital hypothyroidism as analysed by detrended fluctuation analysis

    International Nuclear Information System (INIS)

    The analysis of heart rate fluctuations, or heart rate variability (HRV), may be applied to explore children's neurodevelopment. However, previous studies have reported poor reliability (repeatability) of HRV measures in children at rest and during light exercise. Whether the reliability can be improved by controlling variables such as physical activity, breathing rate and tidal volume, or by selecting non-conventional techniques for analysing the data remains as an open question. We evaluated the short-term repeatability of RR-interval data from medicated children with congenital hypothyroidism (CH). The α1 exponents, obtained by detrended fluctuation analysis (DFA), from the data of 21 children collected at two different sessions were compared. Elapsed days between sessions were 59 ± 33, and data were obtained during 10 min, trying to restrict the children's activity while being seated. We found statistical agreement between the means of α1 exponents for each session (p = 0.94) and no bias with a low-coefficient variation (9.1%); an intraclass correlation coefficient ri = 0.48 ([0.14 0.72], 95% confidence interval) was also estimated. These findings, which were compared with results obtained by conventional time and frequency techniques, indicate the existence of agreement between the α1 exponents obtained at each session, thereby providing support concerning the repeatability of HRV data as analysed by DFA in children with congenital hypothyroidism. Of particular interest was also the agreement found by using the central frequency of the high-frequency band and the parameter pNN20, both showing better or similar ri than α1 (0.77 [0.57 0.89] and 0.51 [0.17 0.74], respectively), yet considerably better repeatability than other conventional time and frequency parameters

  1. Propofol effect on cerebral oxygenation in children with congenital heart disease.

    Science.gov (United States)

    Fleck, Thilo; Schubert, Stephan; Ewert, Peter; Stiller, Brigitte; Nagdyman, Nicole; Berger, Felix

    2015-03-01

    Propofol is a short-acting, intravenously administered hypnotic agent which is used in procedural sedation in children. Propofol is known to decrease systemic vascular resistance, arterial blood pressure and can lead to desaturations and decreased systemic perfusion in children with cardiac shunting. This may result in a reduction in cerebral blood flow and oxygenation. Near-infrared spectroscopy (NIRS) can monitor cerebral tissue oxygenation in the frontal neocortex. The objective of our study was to measure the changes in cerebral oxygen and blood supply after Propofol infusion in children with congenital heart disease. Propofol infusion may reduce cerebral oxygenation in children with congenital heart disease. The study group consisted of 32 children (f:m = 18:14), with median age of 49 (5-112) months and median weight of 15 (5-34) kg. We performed NIRS derived continuous measurement of cerebral oxygenation and cardiac output using Electrical velocimetry for 5 min before and after sedation with Propofol (1-2 mg/kg i.v.) for cardiac catheterization. Simultaneously, non-invasive arterial blood pressure and transcutaneous oxygen saturation were measured. Propofol sedation led to a significant decrease in mean arterial pressure (79 ± 16 vs. 67 ± 12 mmHg) (p = 0.01) and cardiac index (3.2 ± 0.8 vs. 2.9 ± 0.6 ml/min/m(2)) (p = 0.03). In contrast, cerebral tissue oxygenation index, increased significantly from 57 ± 11 to 59 ± 10 % (p blood pressure. This may be caused by a decreased oxygen consumption of the sedated brain with intact cerebral auto-regulation. PMID:25311762

  2. THE ROLE OF PHYSICAL THERAPY IN DIMINISHING THE EFFECTS OF THE CONGENITAL HEART DEFECT - CASE STUDY

    Directory of Open Access Journals (Sweden)

    Croitoru Ramona

    2014-03-01

    Full Text Available In ROMANIA, fetal abnormalities are the cause of 20-30% of infant mortality, being second only to prematurity - 53% in 2005. The restriction of the fetal growth represents the main cause for intrauterine fetal death (60-70%, and the second cause of neonatal deaths - 41%. Perinatal mortality is caused by 6 obstetrical complications: prematurity, multiple pregnancy, pregnancy-induced hypertension, uteroplacental apoplexy, placenta praevia, pelvic presentation. The termination of pregnancy for prenatally diagnosed fetal abnormalities is excluded from the perinatal mortality statistics, according to the epidemiological information. The motivation for choosing a physical therapy intervention in the case of the pediatric congenital heart defect is represented by its number of pediatric cases, and by the problems confronted by the medical teams, the professional literature not being always very clear about the situations encountered in the everyday practice. As the number of congenital heart and blood vessels defects is the highest among pediatric cardiovascular pathologies, they represent a field of maximum interest for rehabilitation in pediatric cardiology.Several modern medicine studies show that physical therapy plays an important role in the rehabilitation of cardiovascular patients.Starting from several cases we researched in relation to our theme, but also from the consulted professional literature, we chose this theme to highlight the importance of this malformative syndrome, and the difficulties that can appear during functional rehabilitation.In conclusion, the results obtained after conducting this study allow us to say that our hypotheses, stating that through a correct and complete assessment of the motor potential one can intervene, using physical therapy means, to reestablish a lost function, and by selecting correctly the means and methods based on the extremely complex diagnosis of the case study, one can contribute to the improvement

  3. Acute onset of bilateral visual loss during sildenafil therapy in a young infant with congenital heart disease

    Science.gov (United States)

    Gaffuri, Marcella; Cristofaletti, Alessandra; Mansoldo, Caterina; Biban, Paolo

    2014-01-01

    We report a case of posterior non-arteritic ischaemic optic neuropathy (NAION) causing bilateral visual loss in a 7-month-old female infant, after a therapeutic course with sildenafil, a phosphodiesterase type 5 inhibitors (PDE5i). The patient was affected by a complex cyanotic congenital heart defect and had undergone cavopulmonary anastomosis (Glenn operation) 3 months ago. After 2 months of recurring chylothorax, a course of oral sildenafil was administered, with the hypothesis that pulmonary vascular resistances were increased. Approximately 4 weeks later the acute onset of visual worsening and poor pupillary light reflex prompted the diagnosis of posterior NAION. Despite a rapid cessation of PDE5i and systemic treatment with corticosteroids, no visual recovery was noticed at 2-year follow-up. NAION has been associated with PDE5i therapy in adults, but to the best of our knowledge it is almost unheard of in children. We suggest close monitoring of visual function in children undergoing treatment with sildenafil. PMID:24895393

  4. Tracheal compression due to an elongated aortic arch in patients with congenital heart disease: evaluation using multidetector-row CT

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    Watanabe, Noriko; Hayabuchi, Yasunobu; Inoue, Miki; Sakata, Miho; Nabo, Manal Mohamed Helmy; Nakagawa, Ryuji; Saijo, Takahiko; Kagami, Shoji [University of Tokushima, Department of Pediatrics, Tokushima (Japan)

    2009-10-15

    The airway can become obstructed as a result of compression by an elongated aortic arch. In this study we evaluated tracheal compression using multidetector-row CT in patients with congenital heart disease and an elongated aortic arch. The trachea was measured at the level of the aortic arch in 205 children and young adults and then the severity of tracheal compression was determined by measuring the tracheal diameter ratio (short axis diameter/long axis diameter). Patients were divided as follows: group I (normal aortic arch; n=166), group II (transversely running aortic arch; n=22), and group III (elongated aortic arch; n=17). From the viewpoint of the relationship of the great arteries, group II had D-malposition, and group III had L-malposition. Age, height, weight and body surface area were significantly correlated with the short and long axis diameter in group I. There was a negative correlation between tracheal diameter ratio and the physical size parameters. The tracheal diameter ratio in group III was 0.50{+-}0.13, which was significantly lower than in groups I and II (P<0.01 and 0.05, respectively). Even apparently asymptomatic patients with an elongated aortic arch can have tracheal compression. An elongated aortic arch may be a useful predictor of tracheal compression. (orig.)

  5. Maternal diabetes induces congenital heart defects in mice by altering the expression of genes involved in cardiovascular development

    Directory of Open Access Journals (Sweden)

    Tay Samuel

    2007-10-01

    Full Text Available Abstract Background Congenital heart defects are frequently observed in infants of diabetic mothers, but the molecular basis of the defects remains obscure. Thus, the present study was performed to gain some insights into the molecular pathogenesis of maternal diabetes-induced congenital heart defects in mice. Methods and results We analyzed the morphological changes, the expression pattern of some genes, the proliferation index and apoptosis in developing heart of embryos at E13.5 from streptozotocin-induced diabetic mice. Morphological analysis has shown the persistent truncus arteriosus combined with a ventricular septal defect in embryos of diabetic mice. Several other defects including defective endocardial cushion (EC and aberrant myofibrillogenesis have also been found. Cardiac neural crest defects in experimental embryos were analyzed and validated by the protein expression of NCAM and PGP 9.5. In addition, the protein expression of Bmp4, Msx1 and Pax3 involved in the development of cardiac neural crest was found to be reduced in the defective hearts. The mRNA expression of Bmp4, Msx1 and Pax3 was significantly down-regulated (p p p Conclusion It is suggested that the down-regulation of genes involved in development of cardiac neural crest could contribute to the pathogenesis of maternal diabetes-induced congenital heart defects.

  6. Bochdalek Congenital Diaphragmatic Hernia in an Adult Sheep.

    Science.gov (United States)

    Williams, R D; Katz, M G; Fargnoli, A S; Kendle, A P; Mihalko, K L; Bridges, C R

    2016-06-01

    Congenital diaphragmatic hernia (CDH) is a rare condition. The aetiology of CDH is often unclear. In our case, a hollow mass was noted on MRI. Cardiac ejection fraction was diminished (47.0%) compared to 60.5% (average of 10 other normal animals, P type) was made when the sheep underwent surgery. The hernia was right-sided and contained the abomasum. Lung biopsy demonstrated incomplete development with a low number of bronchopulmonary segments and vessels. The likely cause of this hernia was genetic malformation. PMID:26293994

  7. Treatment of a giant congenital melanocytic nevus in the adult: review of the current management of giant congenital melanocytic nevus.

    Science.gov (United States)

    Su, Jeannie J; Chang, Daniel K; Mailey, Brian; Gosman, Amanda

    2015-05-01

    Giant congenital melanocytic nevi (GCMNs) create cosmetic disfigurements and pose risk for malignant transformation. Adult GCMN cases are uncommon because most families opt for surgical treatment during childhood. We review the current literature on GCMN and present an interesting case of an adult with a GCMN encompassing the entire back with painful nodules exhibiting gross involvement of his back musculature, without pathologic evidence of malignancy. Surgical management was deferred in childhood because of parental desires to allow the patient to make his own decision, and treatment in adulthood was pursued on the basis of the significant impairment of the patient's quality of life and self-esteem due to the massive size and deforming nature of the nevus. The treatment strategy used for this young adult male patient involved a massive en bloc excision of the GCMN with partial resection of the latissimus dorsi, followed by a 5-week staged reconstructive process using dermal regenerative matrices and split-thickness skin grafting. Because of the shift in GCMN management from early surgical management to more conservative management, we may see an increase in adult cases of GCMN. Thus, it is critical to better understand the controversy surrounding early versus delayed management of GCMN. PMID:25664413

  8. Congenital muscular torticollis in adult patients: literature review and a case report using a harmonic scalpel.

    Science.gov (United States)

    Pombo Castro, María; Luaces Rey, Ramón; Vázquez Mahía, Inés; López-Cedrún Cembranos, José Luís

    2014-02-01

    Congenital torticollis is characterized by shortening and fibrosis of the sternocleidomastoid (SCM) muscle detected at birth or shortly after birth. This leads to a lateral inclination of the head to the ipsilateral shoulder and chin deviation to the opposite side. When diagnosed early, most cases can be conservatively managed with excellent results. In neglected adult cases, the treatment of this entity is more controversial. A review of the different treatment options in neglected adult cases of congenital torticollis is presented, and a case successfully treated by SCM bipolar release is reported. A 35-year-old woman diagnosed with congenital torticollis was referred to the authors' department. She had been diagnosed at 32 years of age and had been conservatively treated, with no success. Physical examination showed a posterior region of the left SCM muscle hard to palpation, with head tilt to the same side and chin deviation to the right. Bipolar release of the SCM muscle was performed under general anesthesia using the harmonic scalpel. Immobilization with a brace was applied during the first 2 weeks and manual stretching was performed after removal of the brace. Head tilt and movement limitation were resolved, achieving good functional and cosmetic results. Although the best treatment results in congenital torticollis are achieved during the first years of childhood, bipolar release of the SCM muscle followed by postsurgical physical therapy can be effective in neglected adult cases. PMID:24139297

  9. Novel materials and devices in the transcatheter management of congenital heart diseases - the future comes slowly (part 1).

    Science.gov (United States)

    Sizarov, Aleksander; Boudjemline, Younes

    2016-04-01

    Management of congenital defects of the heart and great vessels constitutes the largest part of paediatric cardiology practice. Most of these defects require interventions, either corrective or palliative, to guarantee patient survival, symptom relief and/or better quality of life. Interventions can be performed either surgically or transcatheter percutaneously. The surgical repairs are invasive, with long-term results often being suboptimal for complex lesions and after the use of grafts, especially in small patients. Nowadays, various transcatheter devices allow much less invasive percutaneous management in some carefully selected patients with congenital heart disease. However, the currently available materials and devices are only suitable for a small proportion of children, while the majority of young patients with cardiac defects still need surgery, as no transcatheter alternatives exist. There are, however, numerous new biomaterials, devices and technologies that have the potential to expand the transcatheter approach to a much broader spectrum of congenital cardiovascular lesions and conditions. In this three-part review, we describe new advances in transcatheter devices and materials, which promise to extend the application of the percutaneous approach to younger and more complex patient groups with congenital heart disease. The first part focuses on new possibilities for the transcatheter treatment of vascular stenoses in growing patients and the closure of intracardiac defects. PMID:26898634

  10. Analysis of dual-source CT coronary angiography of congenital heart disease in children

    International Nuclear Information System (INIS)

    Objective: To analyze the image quality of coronary arteries by dual-source computed tomography (DSCT) in children with congenital heart disease (CHD). Methods: Image quality of coronary arteries were scored by two radiologists with an ordinal grading system. Score 3 or 4 was considered to be good image quality and diagnostic. Score differences among 3 groups of various baseline heart rate levels, 3 groups of various age levels and 4 coronary branches were analyzed by using ANOVA. Multiple linear regression analysis was used to test the effects of age, heart rate, tube voltage, tube current, pitch, contrast volume, contrast injection rate on the coronary image scores. Results: A total of 72 consecutive patients were enrolled. 71.2% (205/288) of coronary artery branches was good enough for diagnosis. Image quality of left main coronary artery (LM, score 3.64 ± 0.49), left anterior descending (LAD, score 2.97 ± 0.40), right coronary artery (RCA, score of 2.82 ± 0.70), left circumflex (LCX, score 2.76 ± 0.73) were in a descending order (F=29.00, P1--3 years old (2.81 ± 0.74), >3-14 years old (3.58 ± 0.52) were in an ascending order (F=20.16, P150 bpm (2.81 ± 0.63) were in a descending order (F=16.72, P<0.01). Multiple linearregression analysis demonstrated that multiple impact factors affected image quality of LM, LAD, LCX and RCA. Age(r=0.013, P<0.01)and contrast volume(r=0.292, P<0.01)had positive correlation with LM score. Age(r=0.509, P<0.01) and voltage (r=0.292, P=0.011) had positive correlation with LAD score. Heart rate(r=-0.179, P<0.05) had negative correlation with LAD score. Age (r=0.063, P< 0.01) had negative correlation with LCX score. Age (r=0.486, P<0.01) and voltage (r=0.220, P<0.05) had positive correlation with RCA score. Conclusions: Dual-source CT could clearly shows coronary arteries of children with CHD over the age of 3 or with heart rate less than 100 bpm. Limitations of Dual-source CT coronary angiography for CHD children included young

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

    Science.gov (United States)

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

    2016-07-01

    The involvement of the hemodynamic expertise in the operating room led to the development of new strategies aimed to improve both early and long-term outcome of patients with congenital heart disease. During the last decade, with the aim of preserving the pulmonary valve function, we embarked on a new surgical approach, which combines surgical and interventional techniques, which are performed in the operating room. We believe that the preservation of the pulmonary valve function can be extended to any patients with classic tetralogy of Fallot and other selected patients with congenital pulmonary valve hypoplasia and dysfunction. PMID:26950198

  12. Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.

    Science.gov (United States)

    Mazen, Inas; Amin, Heba; Kamel, Alaa; El Ruby, Mona; Bignon-Topalovic, Joelle; Bashamboo, Anu; McElreavey, Ken

    2016-01-01

    Congenital heart diseases (CHDs) are the most common cause of all birth defects and account for nearly 25% of all major congenital anomalies leading to mortality in the first year of life. Extracardiac anomalies including urogenital aberrations are present in ∼30% of all cases. Here, we present a rare case of a 46,XY patient with CHD associated with ambiguous genitalia consisting of a clitoris-like phallus and a bifid scrotum. Exome sequencing revealed novel homozygous mutations in the FGFR1 and STARD3 genes that may be associated with the phenotype. PMID:27055092

  13. An empowerment health education program for children undergoing surgery for congenital heart diseases.

    Science.gov (United States)

    Ni, Zhihong; Chao, Yannfen; Xue, Xiaoling

    2016-09-01

    Since the surgery for congenital heart disease (CHD) is considered highly risky, appropriate postoperative care is crucial. After the surgery, children are often discharged with unhealed wounds, incomplete recovery, and continuing pain. Health education programs based on empowerment education model can assist clients to develop skills in self-management. This study aimed to evaluate the effectiveness of an empowerment health education program for improving caregiving knowledge, caring behaviors, and self-efficacy of parents caring for children after corrective surgery for CHD. This prospective clinical trial enrolled pediatric patients undergoing surgical correction for CHD. Patients were divided into two groups: the control group (n = 42), which received the standard education program, and the intervention group (n = 44), which participated in the empowerment theory-based education program. We collected data on left ventricular ejection fraction (LVEF); peripheral oxygen saturation (SpO2); New York Heart Association classification of the patients; and the parents' caregiving knowledge, caring behaviors, and self-efficacy before surgery and one month and three months after surgery. At one month and three months after surgery, the intervention group scored higher than the control group in caregiving knowledge, caring behavior, and self-efficacy. By the third month after surgery, the intervention group had significantly higher values of LVEF and SpO2 than the control group. PMID:26105060

  14. Planning of vessel grafts for reconstructive surgery in congenital heart diseases

    Science.gov (United States)

    Rietdorf, U.; Riesenkampff, E.; Schwarz, T.; Kuehne, T.; Meinzer, H.-P.; Wolf, I.

    2010-02-01

    The Fontan operation is a surgical treatment for patients with severe congenital heart diseases, where a biventricular correction of the heart can't be achieved. In these cases, a uni-ventricular system is established. During the last step of surgery a tunnel segment is placed to connect the inferior caval vein directly with the pulmonary artery, bypassing the right atrium and ventricle. Thus, the existing ventricle works for the body circulation, while the venous blood is passively directed to the pulmonary arteries. Fontan tunnels can be placed intra- and extracardially. The location, length and shape of the tunnel must be planned accurately. Furthermore, if the tunnel is placed extracardially, it must be positioned between other anatomical structures without constraining them. We developed a software system to support planning of the tunnel location, shape, and size, making pre-operative preparation of the tunnel material possible. The system allows for interactive placement and adjustment of the tunnel, affords a three-dimensional visualization of the virtual Fontan tunnel inside the thorax, and provides a quantification of the length, circumferences and diameters of the tunnel segments. The visualization and quantification can be used to plan and prepare the tunnel material for surgery in order to reduce the intra-operative time and to improve the fit of the tunnel patch.

  15. Apheresis in high risk antiphospholipid syndrome pregnancy and autoimmune congenital heart block.

    Science.gov (United States)

    Ruffatti, Amelia; Favaro, Maria; Brucato, Antonio; Ramoni, Veronique; Facchinetti, Myriam; Tonello, Marta; Del Ross, Teresa; Calligaro, Antonia; Hoxha, Ariela; Grava, Chiara; De Silvestro, Giustina

    2015-12-01

    In the first part a prospective cohort study was reported to evaluate the efficacy and safety of a treatment protocol including plasma exchange (PE) or PE plus intravenous immunoglobulins (IVIG) or immunoadsorption (IA) plus IVIG administered in addition to conventional therapy to 22 pregnant women with high-risk APS. The results indicate that PE or IA treatments administered along with IVIG and conventional antithrombotic therapy could be a valuable and safe therapeutic option in pregnant APS women with triple antiphospholipid antibody positivity along with a history of thrombosis and/or one or more severe pregnancy complications. In the second part the efficacy and safety of PE combined with IVIG and steroids were evaluated for the treatment of 10 patients with autoimmune congenital heart block (CHB) by comparing maternal features, pregnancy outcome and side effects with those of 24 CHB patients treated with steroids only. The patients treated with the combined therapy showed a statistically significant regression of 2nd degree blocks, an increase in heart rate at birth and a significantly lower prevalence of pacing in the first year of life. Moreover, no side effects were observed except for a few steroid-related events. If these results are confirmed by large-scale studies, the apheretic procedures could lead to improved outcomes in the treatment of these devastating diseases. PMID:26626966

  16. Congenital Heart Disease Genetics Uncovers Context-Dependent Organization and Function of Nucleoporins at Cilia.

    Science.gov (United States)

    Del Viso, Florencia; Huang, Fang; Myers, Jordan; Chalfant, Madeleine; Zhang, Yongdeng; Reza, Nooreen; Bewersdorf, Joerg; Lusk, C Patrick; Khokha, Mustafa K

    2016-09-12

    Human genomics is identifying candidate genes for congenital heart disease (CHD), but discovering the underlying mechanisms remains challenging. In a patient with CHD and heterotaxy (Htx), a disorder of left-right patterning, we previously identified a duplication in Nup188. However, a mechanism to explain how a component of the nuclear pore complex (NPC) could cause Htx/CHD was undefined. Here, we show that knockdown of Nup188 or its binding partner Nup93 leads to a loss of cilia during embryonic development while leaving NPC function largely intact. Many data, including the localization of endogenous Nup188/93 at cilia bases, support their direct role at cilia. Super-resolution imaging of Nup188 shows two barrel-like structures with dimensions and organization incompatible with an NPC-like ring, arguing against a proposed "ciliary pore complex." We suggest that the nanoscale organization and function of nucleoporins are context dependent in a way that is required for the structure of the heart. PMID:27593162

  17. Experience with intravenous digital subtraction angiography following shunting in 4 cases of congenital heart diseases

    International Nuclear Information System (INIS)

    Intravenous digital subtraction angiography (IV-DSA) was performed in two patients with Fallot's tetralogy who underwent Blalock-Taussing operation, a patient with coarctation of the aortic arch who underwent extra-anastomic bypass between the ascending aorta and the descending aorta, and a patient with stenosis of the tricuspid valve who underwent Fontan type operation (anastomosis between the right atrium and the pulmonary artery). The conventional cardiac angiography was also performed for the comparison with IV-DSA in all patients. IV-DSA revealed the thickness of the subclavian artery anastomosed by Blaloch-Taussing operation, but failed to determine the accurate thickness of the pulmonary artery required for PA-index for radical surgery in cases of Fallot's tetralogy. Bypass from the ascending aorta to the descending aorta was well visualized by IV-DSA because the heart did not overlap on the image. In cases of Fontan type operation, IV-DSA permitted the visualization of blood flow from the right atrium to the pulmonary artery and the shape of the pulmonary artery. It is concluded that IV-DSA is a less invasive, simple technique to evaluate patients' condition following shunting for congenital heart diseases, as compared to the conventional method. (Namekawa, K.)

  18. Experience with intravenous digital subtraction angiography following shunting in 4 cases of congenital heart diseases

    Energy Technology Data Exchange (ETDEWEB)

    Higashidate, Masafumi; Konno, Susumu; Sumitomo, Naokata; Ito, Sango; Kobayashi, Hiroshi

    1985-01-01

    Intravenous digital subtraction angiography (IV-DSA) was performed in two patients with Fallot's tetralogy who underwent Blalock-Taussing operation, a patient with coarctation of the aortic arch who underwent extra-anastomic bypass between the ascending aorta and the descending aorta, and a patient with stenosis of the tricuspid valve who underwent Fontan type operation (anastomosis between the right atrium and the pulmonary artery). The conventional cardiac angiography was also performed for the comparison with IV-DSA in all patients. IV-DSA revealed the thickness of the subclavian artery anastomosed by Blaloch-Taussing operation, but failed to determine the accurate thickness of the pulmonary artery required for PA-index for radical surgery in cases of Fallot's tetralogy. Bypass from the ascending aorta to the descending aorta was well visualized by IV-DSA because the heart did not overlap on the image. In cases of Fontan type operation, IV-DSA permitted the visualization of blood flow from the right atrium to the pulmonary artery and the shape of the pulmonary artery. It is concluded that IV-DSA is a less invasive, simple technique to evaluate patients' condition following shunting for congenital heart diseases, as compared to the conventional method. (Namekawa, K.).

  19. Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes as a Model for Heart Development and Congenital Heart Disease.

    Science.gov (United States)

    Doyle, Michelle J; Lohr, Jamie L; Chapman, Christopher S; Koyano-Nakagawa, Naoko; Garry, Mary G; Garry, Daniel J

    2015-10-01

    Congenital heart disease (CHD) remains a significant health problem, with a growing population of survivors with chronic disease. Despite intense efforts to understand the genetic basis of CHD in humans, the etiology of most CHD is unknown. Furthermore, new models of CHD are required to better understand the development of CHD and to explore novel therapies for this patient population. In this review, we highlight the role that human induced pluripotent stem cell (hiPSC)-derived cardiomyocytes can serve to enhance our understanding of the development, pathophysiology and potential therapeutic targets for CHD. We highlight the use of hiPSC-derived cardiomyocytes to model gene regulatory interactions, cell-cell interactions and tissue interactions contributing to CHD. We further emphasize the importance of using hiPSC-derived cardiomyocytes as personalized research models. The use of hiPSCs presents an unprecedented opportunity to generate disease-specific cellular models, investigate the underlying molecular mechanisms of disease and uncover new therapeutic targets for CHD. PMID:26085192

  20. Ca2+-regulatory proteins in cardiomyocytes from the right ventricle in children with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Wu Yihe

    2012-04-01

    Full Text Available Abstract Background Hypoxia and hypertrophy are the most frequent pathophysiological consequence of congenital heart disease (CHD which can induce the alteration of Ca2+-regulatory proteins and inhibit cardiac contractility. Few studies have been performed to examine Ca2+-regulatory proteins in human cardiomyocytes from the hypertrophic right ventricle with or without hypoxia. Methods Right ventricle tissues were collected from children with tetralogy of Fallot [n = 25, hypoxia and hypertrophy group (HH group], pulmonary stenosis [n = 25, hypertrophy group (H group], or small isolated ventricular septal defect [n = 25, control group (C group] during open-heart surgery. Paraffin sections of tissues were stained with 3,3′-dioctadecyloxacarbocyanine perchlorate to measure cardiomyocyte size. Expression levels of Ca2+-regulatory proteins [sarcoplasmic reticulum Ca2+-ATPase (SERCA2a, ryanodine receptor (RyR2, sodiumcalcium exchanger (NCX, sarcolipin (SLN and phospholamban (PLN] were analysed by means of real-time PCR, western blot, or immunofluorescence. Additionally, phosphorylation level of RyR and PLN and activity of protein phosphatase (PP1 were evaluated using western blot. Results Mild cardiomyocyte hypertrophy of the right ventricle in H and HH groups was confirmed by comparing cardiomyocyte size. A significant reduction of SERCA2a in mRNA (P16-phosphorylated PLN was down-regulated (PP Conclusions The decreased SERCA2a mRNA may be a biomarker of the pathological process in the early stage of cyanotic CHD with the hypertrophic right ventricle. A combination of hypoxia and hypertrophy can induce the adverse effect of PLN-Ser16 dephosphorylation. Increased PP1 could result in the decreased PLN-Ser16 and inhibition of PP1 is a potential therapeutic target for heart dysfunction in pediatrics.

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

    International Nuclear Information System (INIS)

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

  2. Congenital amusia: a group study of adults afflicted with a music-specific disorder.

    Science.gov (United States)

    Ayotte, Julie; Peretz, Isabelle; Hyde, Krista

    2002-02-01

    The condition of congenital amusia, commonly known as tone-deafness, has been described for more than a century, but has received little empirical attention. In the present study, a research effort has been made to document in detail the behavioural manifestations of congenital amusia. A group of 11 adults, fitting stringent criteria of musical disabilities, were examined in a series of tests originally designed to assess the presence and specificity of musical disorders in brain-damaged patients. The results show that congenital amusia is related to severe deficiencies in processing pitch variations. The deficit extends to impairments in music memory and recognition as well as in singing and the ability to tap in time to music. Interestingly, the disorder appears specific to the musical domain. Congenital amusical individuals process and recognize speech, including speech prosody, common environmental sounds and human voices, as well as control subjects. Thus, the present study convincingly demonstrates the existence of congenital amusia as a new class of learning disabilities that affect musical abilities. PMID:11844725

  3. Value of Multidetector Computed Tomography in Evaluation of Thoracic Venous Abnormalities among Pediatrics with Congenital Heart Disease

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    Dalia F Elbeih*, Mervat M El-Gohary *, Naglaa H Shebrya*,Mohammed A Saleh

    2013-04-01

    Full Text Available Introduction: Venous anomalies of the thorax can involve systemic or pulmonary veins and range from isolated incidental findings to components of more complex anomalies, most often congenital heart disease (CHD. Although echocardiography and catheter directed cardiac angiography are generally accepted as the primary imaging techniques for evaluation of CHD, CT and MRI are important complementary diagnostic tools. Multi-detector computed tomography (MDCT with its increasing availability and utility is now becoming a further method of imaging CHD. In light of its widespread availability, MDCT and 3D imaging are increasingly considered as a viable “one-stop shop” for preoperative imaging evaluation of cardiovascular structures in selected pediatric patients.Aim of the work: The aim of this work is to evaluate the role of MDCT in visualization of the thoracic venous system in pediatrics with congenital heart disease, show prevalence and types of venous anomalies and to compare this data with echocardiographic findings.Methods: The studied group included 30 cases referred to us by pediatric cardiologists to be examined by MSCT angiography of the heart and thoracic vessels. All the patients were known cases of congenital heart disease and underwent echocardiography. They were referred to answer specific anatomic question raised by inconclusive echocardiography, to assess suspected systemic and suspected pulmonary venous anomalies. All patients were subjected to full history taking, clinical examination and MDCT examination with CT lightspeed VCT XT 64-detectors row scanner (General Electric, Medical Systems, Milwaukee, Wisconsin, USA.Results: CTA findings had 77.8 % concordance with echocardiographic findings regarding SVC anomalies, 66.7 % concordance with echocardiography regarding IVC anomalies and 90 % concordance regarding pulmonary venous anomalies.Conclusion: Low dose protocol CTA is a promising method that complementary to Echocardioraphy

  4. Self-Management of Heart Disease in Older Adults

    OpenAIRE

    Huynh-Hohnbaum, Anh-Luu T.; Marshall, Lia; Villa, Valentine M.; Lee, Gi

    2015-01-01

    The American Heart Association estimates that 81% of people who die of coronary heart disease are 65 years old or older. The leading risk health behaviors include physical inactivity, poor diet, smoking and binge drinking. Using the 2011–2012 California Health Interview Survey (CHIS), this study looked at how self-management, which includes a plan developed by a medical professional and the confidence to manage one’s disease, may decrease negative risk behaviors in older adults. The presence ...

  5. Evaluation of High Resolution Melting for MTHFR C677T Genotyping in Congenital Heart Disease.

    Directory of Open Access Journals (Sweden)

    Ying Wang

    Full Text Available High resolution melting (HRM is a simple, flexible and low-cost mutation screening technique. The methylenetetrahydrofolate reductase (MTHFR gene encoding a critical enzyme, potentially affects susceptibility to some congenital defects like congenital heart disease (CHD. We evaluate the performance of HRM for genotyping of the MTHFR gene C677T locus in CHD cases and healthy controls of Chinese Han population.A total of 315 blood samples from 147 CHD patients (male72, female 75 and 168 healthy controls (male 92, female 76 were enrolled in the study. HRM was utilized to genotype MTHFR C677T locus of all the samples. The results were compared to that of PCR-RFLP and Sanger sequencing. The association of the MTHFR C677T genotypes and the risk of CHD was analyzed using odds ratio with their 95% confidence interval (CIs from unconditional logistic regression.All the samples were successfully genotyped by HRM within 1 hour and 30 minutes while at least 6 hours were needed for PCR-RFLP and sequencing. The genotypes of MTHFR C677T CC, CT, and TT were 9.52%, 49.66%, and 40.82% in CHD group but 29.17%, 50% and 20.83% in control group, which were identical using both methods of HRM and PCR-RFLP, demonstrating the sensitivity and specificity of HRM were all 100%.MTHFR C677T is a potential risk factor for CHD in our local residents of Shandong province in China. HRM is a fast, sensitive, specific and reliable method for clinical application of genotyping.

  6. 小儿先天性心脏病封堵术后的护理体会%Nursing Experience of Children with Congenital Heart Disease after Transcatheter Closure of Congenital Heart Disease

    Institute of Scientific and Technical Information of China (English)

    曾珍; 郭文馨

    2015-01-01

    目的:探讨小儿先天性心脏病封堵术后护理要点。方法回顾性分析我科自2014年1月~2015年5月共50例小儿先天性心脏病封堵术的案例。结果手术成功,术后恢复快,无严重并发症。结论患者年龄小,体重低,护理难度大,规范有效的护理能有效预防并发症的发生,促进术后恢复。%Objective To explore the nursing points of the patients with congenital heart disease in children. Methods A retrospective analysis of 50 cases of congenital heart disease in children from January 2014 to May 2015, a total of cases of congenital heart disease. Results The operation was successful, and the recovery was fast and no serious complication. Conclusion Patients with low age, low weight, dif iculty of nursing, standardized and ef ective nursing can ef ectively prevent the occur ence of complications, promote postoperative recovery.

  7. Role of CT and MRI prior to redo sternotomy in paediatric patients with congenital heart disease

    International Nuclear Information System (INIS)

    Aim: To assess the value of computed tomography (CT) and magnetic resonance imaging (MRI) in the preoperative evaluation of congenital heart disease patients about to undergo redo sternotomy. Materials and methods: Forty-three patients (26 male, 17 female, median age 65 months) underwent contrast-enhanced CT and 24 patients (16 male, eight female, median age 89 months) underwent MRI prior to redo sternotomy for congenital heart disease. The informed consent requirement was waived by the institutional review board for this Health Insurance Portability and Accountability Act (HIPAA) compliant study. A standardized CT protocol utilizing a 64 section multidetector machine and an unenhanced and contrast-enhanced MRI multisequence protocol was used. Images were qualitatively graded and retrosternal distances were measured as part of a risk assessment score. Results: There were no statistically significant differences between the observers' grades regarding most retrosternal structures at both CT and MRI, separately (p > 0.05); furthermore, both readers found CT to be superior to MRI in qualitative grading except one reader's grades for shunts/conduits (p = 0.107). κ-values were good to excellent (κ ≥ 0.61) for most structures in qualitative grading of cases and risk assessment scores. There were no significant differences between grades of important structures using the same technique based on Friedman's test (p > 0.05). Analysis showed no difference between risk scores given to CT and MRI patients (p > 0.05). Conclusion: The present findings demonstrate the value of imaging to evaluate retrosternal anatomy. CT could be more valuable than MRI and could play a pivotal role in the surgical planning of CHD patients prior to redo operations. - Highlights: • Cardiac CT is valuable before redo sternotomy in CHD patients. • CT effectively evaluates major retrosternal structures before redo surgery. • In qualitative image grading, CT was superior

  8. Neonatal pulse oximetry screening improves detecting of critical congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    MA Xiao-jing; HUANG Guo-ying

    2013-01-01

    Objective Life-threatening critical congenital heart disease (cCHD) is often not detected in the neonatal period.Unrecognized cCHD results in high morbidity and mortality rates.As a non-invasive,convenient,quick and accurate measuring method,pulse oximetry is considered to be a promising strategy to screen for cCHD in neonates.This article is a review on the neonatal pulse oximetry screening for cCHD.Data sources Articles on neonatal pulse oximetry screening for cCHD were accessed from PubMed,using keywords including congenital heart defects,neonatal screening and oximetry.Study selection Original articles and critical reviews selected were relevant to the review's theme.Results The factors in the course of implementation,including threshold for positive pulse-oximetry screening results,the pulse oximeters used,timing of the screening,and the measuring position,influence the accuracy of the screening.It is recommended that the screening is completed on the second day of life,before hospital discharge.Motion-tolerant pulse oximeters,which can also be applied to measure the saturation in low-perfusion conditions,should be used.The probe should be put on both the right hand and on one foot.Thresholds of <95% in either limb or a difference of >3% between the limbs as a positive result may be appropriate.It should be emphasized that pulse-oximetry screening cannot be used as the only way to detect cCHD,clinical examination is also important in this situation.Cost-benefit analysis in the United Kingdom revealed it was plausible to use pulse oximetry as an adjunct to clinical examination.However,it is still controversial as to whether pulse oximetry can be used as a routine screening method for cCHD in neonates.Conclusions Neonatal pulse oximetry screening improves detection of cCHD.Further studies should be carried out before it becomes one of the routine newborn screening programs.

  9. Decreased plasma ADAMTS-13 activity as a predictor of postoperative bleeding in cyanotic congenital heart disease

    Directory of Open Access Journals (Sweden)

    Rosangela P.S. Soares

    2013-04-01

    Full Text Available OBJECTIVE: To analyze the preoperative plasma antigenic concentration and activity of von Willebrand factor and its main cleaving protease ADAMTS-13 in pediatric patients with cyanotic congenital heart disease undergoing surgical treatment and investigate possible correlations with postoperative bleeding. METHODS: Plasma antigenic concentrations (von Willebrand factor:Ag and ADAMTS-13:Ag were measured using enzyme-linked immunoassays. Collagen-binding assays were developed to measure biological activities (von Willebrand factor:collagen binding and ADAMTS-13 activity. The multimeric structure of von Willebrand factor was analyzed using Western immunoblotting. Demographic, diagnostic, and general and specific laboratory data and surgery-related variables were subjected to univariate, bivariate, and multivariate analysis for the prediction of postoperative bleeding. RESULTS: Forty-eight patients were enrolled, with ages ranging from 9 months to 7.6 years (median 2.5 years. The plasma concentrations of von Willebrand factor:Ag and ADAMTS-13:Ag were decreased by 65 and 82%, respectively, in the patients compared with the controls (p<0.001. An increased density of low-molecular-weight fractions of von Willebrand factor, which are suggestive of proteolytic degradation (p = 0.0081, was associated with decreased ADAMTS-13 activity, which was likely due to ADAMTS-13 consumption (71% of controls, p = 0.0029 and decreased von Willebrand factor:collagen binding (76% of controls, p = 0.0004. Significant postoperative bleeding occurred in 13 patients. The preoperative ADAMTS-13 activity of <64.6% (mean level for the group, preoperative activated partial thromboplastin time, and the need for cardiopulmonary bypass were characterized as independent risk factors for postoperative bleeding, with respective hazard ratios of 22.35 (95% CI 1.69 to 294.79, 1.096 (95% CI 1.016 to 1.183, and 37.43 (95% CI 1.79 to 782.73. CONCLUSION: Low plasma ADAMTS-13

  10. Evaluation of Oral Prostaglandin E1 in Management of Ductus Dependent Congenital Heart Disease

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    Huseyin Altunhan

    2012-06-01

    Full Text Available Purpose: Intravenous prostaglandin E1 (PGE1 infusion is a treatment which has been proven to be effective in ductus dependent congenital heart disease. However, PGE1 is very expensive, needed continuous infusion and its supply is difficult by every center. When its long term use is necessary, these problems become more important. The aim of this study was to show whether oral PGE1could keep the ductus open or not till the supply of intravenous PGE1. Method: Ten patients, who were admitted to newborn intensive care unit with the diagnosis of ductus dependent congenital heart disease and received oral PGE1 till the supply of intravenous PGE1, were evaluated. The PO2 with the arterial blood gas analysis and SO2 levels with pulse oxymeter at skin were recorded before and after the administration of oral and intravenous PGE1. Results: The mean oral PGE1 initiation age was 5.5 hours (0.5–25, and mean administration period was 28 hours (18–46. It was observed that the PO2 and SO2 levels of patients measured 2 hours after the initiation of oral PGE1 were significantly increased compared to the levels before initiation of PGE1. The improvement in PO2 and SO2 levels continued till the initiation of intravenous PGE1. It was also observed that the PO2 and SO2 levels of patients measured 2 hours after the initiation of intravenous PGE1 were slightly increased compared to levels before initiation of intravenous PGE1. Conclusion: Although intravenous PGE1 is more effective than oral PGE1 in short term usage, oral PGE1 is also sufficiently effective in keeping the dustus open. For this reason until the intravenous PGE1 is supplied oral PGE1 may be used as an alternative treatment choice. We think that in long term use oral PGE1, which is cheaper and easy to use, could be used instead of intravenous PGE1 without need of admission to hospital and opening intravenous line. However for this further studies are needed to confirm this assumption. [Cukurova Med J

  11. Folate Deficiency and Folic Acid Supplementation: The Prevention of Neural-Tube Defects and Congenital Heart Defects

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    Andrew E. Czeizel

    2013-11-01

    Full Text Available Diet, particularly vitamin deficiency, is associated with the risk of birth defects. The aim of this review paper is to show the characteristics of common and severe neural-tube defects together with congenital heart defects (CHD as vitamin deficiencies play a role in their origin. The findings of the Hungarian intervention (randomized double-blind and cohort controlled trials indicated that periconceptional folic acid (FA-containing multivitamin supplementation prevented the major proportion (about 90% of neural-tube defects (NTD as well as a certain proportion (about 40% of congenital heart defects. Finally the benefits and drawbacks of three main practical applications of folic acid/multivitamin treatment such as (i dietary intake; (ii periconceptional supplementation; and (iii flour fortification are discussed. The conclusion arrived at is indeed confirmation of Benjamin Franklin’s statement: “An ounce of prevention is better than a pound of care”.

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

    International Nuclear Information System (INIS)

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

  13. Congenital Aortic Stenosis and Aneurysms

    NARCIS (Netherlands)

    D. van der Linde (Denise)

    2013-01-01

    textabstractDue to improvements in pediatric cardio-thoracic surgery, anesthesia and diagnostics over the past decades, the number of adult patients with congenital heart disease (CHD) is growing. This causes an increasing demand in clinical practice for insight in long term outcome in both non-oper

  14. Association between down syndrome and in-hospital death among children undergoing surgery for congenital heart disease a us population-based study

    OpenAIRE

    Evans, JM; Dharmar, M; Meierhenry, E; Marcin, JP; Raff, GW

    2014-01-01

    Background-The prevalence of Down syndrome (DS)-affected births has increased during the past 30 years; moreover, children with DS have a higher incidence of congenital heart disease compared with their peers. Whether children with DS have better or worse outcomes after repair of congenital heart disease is unclear. We sought to identify differences in in-hospital mortality after cardiac surgery in pediatric patients with and without DS using a large national database. Methods and Results-Chi...

  15. Validity of Sildenafil Test in Patients with Pulmonary Arterial Hypertension Associated with Congenital Heart Disease According to Clinical and Echocardiographic Parameters

    OpenAIRE

    Akbar Shahmohammadi; Paridokht Nakhostin Davari; Mohammad Yusof Aarabi Mogaddam; Akbar Molaei; Mahmood Meraji

    2009-01-01

    Background: Pulmonary arterial hypertension is a complication of most congenital heart diseases. We sought to assess the effect of sildenafil on patients suffering from pulmonary arterial hypertension in association with congenital heart disease on the basis of clinical and echocardiographic parameters and compare the catheterization and treatment results so as to evaluate the predictive value of sildenafil on the operability of patients. Methods: After primary echocardiography, 21 patients w...

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

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    Jessica Falleti

    2013-01-01

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

  17. Micro-economic impact of congenital heart surgery: results of a prospective study from a limited-resource setting.

    Directory of Open Access Journals (Sweden)

    Manu Raj

    Full Text Available The microeconomic impact of surgery for congenital heart disease is unexplored, particularly in resource limited environments. We sought to understand the direct and indirect costs related to congenital heart surgery and its impact on Indian households from a family perspective.Baseline and first follow-up data of 644 consecutive children admitted for surgery for congenital heart disease (March 2013 - July 2014 in a tertiary referral hospital in Central Kerala, South India was collected prospectivelyfrom parents through questionnaires using a semi-structured interview schedule.The median age was 8.2 months (IQR: 3.0- 36.0 months. Most families belonged to upper middle (43.0% and lower middle (35.7% socioeconomic class. Only 3.9% of families had some form of health insurance. The median expense for the admission and surgery was INR 201898 (IQR: 163287-266139 [I$ 11989 (IQR: 9696-15804], which was 0.93 (IQR: 0.52-1.49 times the annual family income of affected patients. Median loss of man-days was 35 (IQR: 24-50 and job-days was 15 (IQR: 11-24. Surgical risk category and hospital stay duration significantly predicted higher costs. One in two families reported overwhelming to high financial stress during admission period for surgery. Approximately half of the families borrowed money during the follow up period after surgery.Surgery for congenital heart disease results in significant financial burden for majority of families studied. Efforts should be directed at further reductions in treatment costs without compromising the quality of care together with generating financial support for affected families.

  18. Demonstration of value of optimizing ECG triggering for cardiovascular magnetic resonance in patients with congenital heart disease

    OpenAIRE

    Knesewitsch Thomas; Meierhofer Christian; Rieger Henrike; Rößler Jürgen; Frank Michael; Martinoff Stefan; Hess John; Stern Heiko; Fratz Sohrab

    2013-01-01

    Abstract Background Optimal ECG triggering is of paramount importance for correct blood flow quantification during cardiovascular magnetic resonance (CMR). However, optimal ECG triggering and therefore blood flow quantification is impaired in many patients with congenital heart disease (CHD) due to complex QRS patterns. Therefore, a new ECG-trigger algorithm was developed to address triggering problems due to complex QRS patterns. The aim of this study was to test this new ECG-trigger algorit...

  19. Dental Plaque Streptococci and Their Amoxicillin Resistance in Children with Congenital Heart Anomalies: Results of a Prospective Study

    OpenAIRE

    Aida Rexhepi; Raimonda Niko; Agim Begzati; Mergime Prekazi Loxha; Vjosa Krasniqi; Zana Agani; Blerta Xhemajli; Teuta Kutllovci; Urata Tahiri

    2014-01-01

    Children with congenital heart diseases (CHD) are considered to be at higher risk of development of a Bacterial Endocarditic (BE) from infectious diseases of the oral cavity and following dental treatments. They represent the largest group of patients with special medical needs who appear in the daily dental practice. Maintenance of oral health and oral hygiene is suitable to reduce the incidence of bacteremia. Oral hygiene is more important in reducing the risk of BE than the administration ...

  20. Loss-of-Function Mutations in Growth Differentiation Factor-1 (GDF1) Are Associated with Congenital Heart Defects in Humans

    OpenAIRE

    Karkera, J. D. ; Lee, J. S. ; Roessler, E. ; Banerjee-Basu, S. ; Ouspenskaia, M. V. ; Mez, J. ; Goldmuntz, E. ; Bowers, P. ; Towbin, J. ; Belmont, J. W. ; Baxevanis, A. D. ; Schier, A. F. ; Muenke, M. 

    2007-01-01

    Congenital heart defects (CHDs) are among the most common birth defects in humans (incidence 8–10 per 1,000 live births). Although their etiology is often poorly understood, most are considered to arise from multifactorial influences, including environmental and genetic components, as well as from less common syndromic forms. We hypothesized that disturbances in left-right patterning could contribute to the pathogenesis of selected cardiac defects by interfering with the extrinsic cues leadin...

  1. Study on Environmental Causes and SNPs of MTHFR, MS and CBS Genes Related to Congenital Heart Disease

    OpenAIRE

    Shi, Hui; Yang, Shiwei; Liu, Yan; HUANG, PENG; Lin, Ning; Sun, Xiaoru; Yu, Rongbin; Zhang, Yuanyuan; Qin, Yuming; Wang, Lijuan

    2015-01-01

    Purpose Congenital heart diseases (CHD) are among the most common birth defects in China. Environmental causes and folate metabolism changes may alter susceptibility to CHD. The aim of this study is to evaluate the relevant risk-factors of children with CHD and their mothers. Methods 138 children with CHD and 207 normal children for controls were recruited. Their mothers were also enlisted in this study and interviewed following a questionnaire about their pregnant history and early pregnancy...

  2. Fetal circulation in left-sided congenital heart disease measured by cardiovascular magnetic resonance: a case–control study

    OpenAIRE

    Al Nafisi, Bahiyah; van Amerom, Joshua FP; Forsey, Jonathan; Jaeggi, Edgar; Grosse-Wortmann, Lars; Yoo, Shi-Joon; Macgowan, Christopher K; Seed, Mike

    2013-01-01

    Background The distribution of blood flow in fetuses with congenital heart disease (CHD) is likely to influence fetal growth, organ development, and postnatal outcome, but has previously been difficult to study. We present the first measurements of the distribution of the fetal circulation in left-sided CHD made using phase contrast cardiac magnetic resonance (CMR). Methods Twenty-two fetuses with suspected left-sided CHD and twelve normal controls underwent fetal CMR and echocardiography at ...

  3. [The mechanical properties of the lungs in patients with congenital heart defects in the immediate postoperative period].

    Science.gov (United States)

    Zatevakhina, M V; Nikitin, E S; Tskhovrebov, S V; Makrushin, I M; Suvorova, G Iu; Safonova, E M

    1998-01-01

    Static compliance and inspiratory resistance were assessed in 218 patients aged over 3 years after open-heart surgery for correction of congenital heart disease during the immediate postoperative period without complications. Cst in the immediate postoperative period in patients with Fallot's tetralogy, intraventricular septum defect, intraatrial septum defect, and incomplete form of atrioventricular communication was higher than in patients operated on for Fallot's tetralogy with a previous systemic-pulmonary anastomosis and pulmonary artery atresia, whereas Rinsp was virtually the same in all groups. Age-specific differences were noted. The data are recommended for use as reference values in stress. PMID:9770809

  4. The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors—Is Pharmacogenetics the Key?

    Science.gov (United States)

    Daud, Aizati N. A.; Bergman, Jorieke E. H.; Kerstjens-Frederikse, Wilhelmina S.; Groen, Henk; Wilffert, Bob

    2016-01-01

    Serotonin reuptake inhibitors (SRIs) are often prescribed during pregnancy. Previous studies that found an increased risk of congenital anomalies, particularly congenital heart anomalies (CHA), with SRI use during pregnancy have created concern among pregnant women and healthcare professionals about the safety of these drugs. However, subsequent studies have reported conflicting results on the association between CHA and SRI use during pregnancy. These discrepancies in the risk estimates can potentially be explained by genetic differences among exposed individuals. In this review, we explore the potential pharmacogenetic predictors involved in the pharmacokinetics and mechanism of action of SRIs, and their relation to the risk of CHA. In general, the risk is dependent on the maternal concentration of SRIs and the foetal serotonin level/effect, which can be modulated by the alteration in the expression and/or function of the metabolic enzymes, transporter proteins and serotonin receptors involved in the serotonin signalling of the foetal heart development. Pharmacogenetics might be the key to understanding why some children exposed to SRIs develop a congenital heart anomaly and others do not. PMID:27529241

  5. The Risk of Congenital Heart Anomalies Following Prenatal Exposure to Serotonin Reuptake Inhibitors-Is Pharmacogenetics the Key?

    Science.gov (United States)

    Daud, Aizati N A; Bergman, Jorieke E H; Kerstjens-Frederikse, Wilhelmina S; Groen, Henk; Wilffert, Bob

    2016-01-01

    Serotonin reuptake inhibitors (SRIs) are often prescribed during pregnancy. Previous studies that found an increased risk of congenital anomalies, particularly congenital heart anomalies (CHA), with SRI use during pregnancy have created concern among pregnant women and healthcare professionals about the safety of these drugs. However, subsequent studies have reported conflicting results on the association between CHA and SRI use during pregnancy. These discrepancies in the risk estimates can potentially be explained by genetic differences among exposed individuals. In this review, we explore the potential pharmacogenetic predictors involved in the pharmacokinetics and mechanism of action of SRIs, and their relation to the risk of CHA. In general, the risk is dependent on the maternal concentration of SRIs and the foetal serotonin level/effect, which can be modulated by the alteration in the expression and/or function of the metabolic enzymes, transporter proteins and serotonin receptors involved in the serotonin signalling of the foetal heart development. Pharmacogenetics might be the key to understanding why some children exposed to SRIs develop a congenital heart anomaly and others do not. PMID:27529241

  6. Effect of esmolol on myocardial protection in pediatrics congenital heart defects

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    Fazelifar, Saeed; Bigdelian, Hamid

    2015-01-01

    Background: Although it is accepted that inducing cardioplegia is the gold standard in myocardial protection, there is still no consensus on the exact type of the cardioplegia. There are fewer studies on the type of the cardioplegia in hearts of the children than adults and they are contradictory. The effects of esmolol have been reviewed (a type of ultrashort-acting beta-adrenergic antagonist, i.e., ß-blockers) in conjunction with the cardioplegia due to the effect of the β-blockers in reduc...

  7. Identification of functional mutations in GATA4 in patients with congenital heart disease.

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    Erli Wang

    Full Text Available Congenital heart disease (CHD is one of the most prevalent developmental anomalies and the leading cause of noninfectious morbidity and mortality in newborns. Despite its prevalence and clinical significance, the etiology of CHD remains largely unknown. GATA4 is a highly conserved transcription factor that regulates a variety of physiological processes and has been extensively studied, particularly on its role in heart development. With the combination of TBX5 and MEF2C, GATA4 can reprogram postnatal fibroblasts into functional cardiomyocytes directly. In the past decade, a variety of GATA4 mutations were identified and these findings originally came from familial CHD pedigree studies. Given that familial and sporadic CHD cases allegedly share a basic genetic basis, we explore the GATA4 mutations in different types of CHD. In this study, via direct sequencing of the GATA4 coding region and exon-intron boundaries in 384 sporadic Chinese CHD patients, we identified 12 heterozygous non-synonymous mutations, among which 8 mutations were only found in CHD patients when compared with 957 controls. Six of these non-synonymous mutations have not been previously reported. Subsequent functional analyses revealed that the transcriptional activity, subcellular localization and DNA binding affinity of some mutant GATA4 proteins were significantly altered. Our results expand the spectrum of GATA4 mutations linked to cardiac defects. Together with the newly reported mutations, approximately 110 non-synonymous mutations have currently been identified in GATA4. Our future analysis will explore why the evolutionarily conserved GATA4 appears to be hypermutable.

  8. The epidemiological aspects of congenital heart disease in central and southern district of Iran

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    Sara Amel-Shahbaz

    2014-01-01

    Full Text Available Background: Congenital heart disease (CHD is a major health problem and its prevalence is different around the world. The aim of study was determination of the epidemiological aspects of CHD in central and southern district of Iran. Materials and Methods: In this descriptive and analytical study, 3714 medical records were evaluated from March 21, 2001 to December 18, 2011. Medical records of inpatients from angiography and outpatients in the Heart Clinic of Afshar hospital (a referral hospital in center and south of Iran were the source of information. Types of CHD and demographic data including age, sex and residential location are collected. The data were analyzed by SPSS (version 17 software. Chi-square and Fisher′s exact tests were used to compare variables between groups. Results: At the study, the mean age of the patients at diagnosis time was 8.8 ± 11.6 year (at the range of one day to 76 years with median of 4 years. The percentage of females and males was 54.2 (n: 2014 and 43.8 (n: 1627, respectively. The chi-square test showed that there was significant difference in frequency of CHDs between females and males (P value < 0.0001. Ventricular septal defect (VSD was found to be the most frequent of CHDs (27%. Patent ductus arteriosus (PDA (16.8%, atrial septal defect (ASD (15.8%, pulmonary stenosis (PS (11% and Tetralogy of Fallot (TOF (8.9% were more prevalent in CHDs after VSD. Conclusions: The frequency of CHDs in female was more than male and VSD, PDA, ASD, PS, and TOF were most common in CHDs, respectively.

  9. Variabilities in the mortality-related resource utilisation for congenital heart disease

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    Danford, David A; Karels, Quentin; Kutty, Shelby

    2016-01-01

    Objective Our objective was to characterise the divergence of effort from outcome in congenital heart disease (CHD) care by measuring mortality-related resource utilisation fraction (MRRUF) for various CHD lesions across institutions of differing volumes. Methods Study design was observational analysis of an administrative database, the Pediatric Health Information System (PHIS). The setting was inpatient; 2004–2013. Patients were ≤21 years old with atrial septal defect (ASD), ventricular septal defect (VSD), tetralogy of Fallot (TOF), hypoplastic left heart syndrome (HLHS) or other single ventricle (SV). There were no interventions but diagnosis, institution (and volume), age, length of hospitalisation, billed charges and deaths were recorded. The main outcome measure was MRRUF, the ratio of investments during hospitalisations ending in fatality to investments during all hospitalisations. Results There were 50 939 admissions, 1711 deaths, 703 383 inpatient days, and $10 182 000 000 billed charges. MRRUF varied widely by diagnosis: highest in HLHS (21%), but present in ASD (2%) and VSD (4%). Highest among the very young, MRRUF also increased in HLHS and SV during adolescence. MRRUF increased with hospitalisation duration. MRRUF had no relation to institutional volume, and was static over the decade studied. Conclusions Even in the modern era we invest heavily in inpatient CHD care that does not produce the desired outcome. Although its magnitude varies by lesion and age, MRRUF is not limited to complex disease in the very young. MRRUF is not decreasing, and is not isolated to high or low volume institutions. PMID:27175289

  10. Population-based evaluation of a suggested anatomic and clinical classification of congenital heart defects based on the International Paediatric and Congenital Cardiac Code

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    Goffinet François

    2011-10-01

    Full Text Available Abstract Background Classification of the overall spectrum of congenital heart defects (CHD has always been challenging, in part because of the diversity of the cardiac phenotypes, but also because of the oft-complex associations. The purpose of our study was to establish a comprehensive and easy-to-use classification of CHD for clinical and epidemiological studies based on the long list of the International Paediatric and Congenital Cardiac Code (IPCCC. Methods We coded each individual malformation using six-digit codes from the long list of IPCCC. We then regrouped all lesions into 10 categories and 23 subcategories according to a multi-dimensional approach encompassing anatomic, diagnostic and therapeutic criteria. This anatomic and clinical classification of congenital heart disease (ACC-CHD was then applied to data acquired from a population-based cohort of patients with CHD in France, made up of 2867 cases (82% live births, 1.8% stillbirths and 16.2% pregnancy terminations. Results The majority of cases (79.5% could be identified with a single IPCCC code. The category "Heterotaxy, including isomerism and mirror-imagery" was the only one that typically required more than one code for identification of cases. The two largest categories were "ventricular septal defects" (52% and "anomalies of the outflow tracts and arterial valves" (20% of cases. Conclusion Our proposed classification is not new, but rather a regrouping of the known spectrum of CHD into a manageable number of categories based on anatomic and clinical criteria. The classification is designed to use the code numbers of the long list of IPCCC but can accommodate ICD-10 codes. Its exhaustiveness, simplicity, and anatomic basis make it useful for clinical and epidemiologic studies, including those aimed at assessment of risk factors and outcomes.

  11. Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?

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    Hanane Latrech

    2015-01-01

    Full Text Available Background. 47XYY syndrome is a rare sex chromosome variation characterized by an additional Y chromosome. Most patients with 47XYY karyotype have normal phenotype. This disorder seems associated with a higher risk of developing behavioral and cognitive problems, tall stature, and infertility in adulthood. Sexual development disorder is a rare finding. We report a first case with an abnormal left coronary artery originating from the pulmonary artery in a 47XYY patient. Case. A one-month-old child was referred for ectopic testis and micropenis. Physical examination revealed facial dysmorphia, micropenis, and curvature of the penis with nonpalpable testis. Laboratory tests showed decreased total testosterone and anti-Mullerian hormone (AMH levels. Blood karyotyping revealed a 47XYY chromosomal formula. At the age of 3 months, the patient developed dyspnea and tachycardia. Echocardiography revealed an anomalous left coronary artery from pulmonary artery with left ventricular dysfunction requiring surgical revascularization by direct reimplantation of the left coronary artery system. Our second case was a 3-year-old child referred for hypospadias with nonpalpable left testicle. Physical examination showed hypertelorism. Blood karyotyping revealed a 47XYY chromosomal formula. Conclusion. To our knowledge, this is the first case of 47XYY syndrome associated with this congenital heart malformation and a sexual development disorder.

  12. Genetic mutation analysis in Japanese patients with non-syndromic congenital heart disease.

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    Yoshida, Akiko; Morisaki, Hiroko; Nakaji, Mai; Kitano, Masataka; Kim, Ki-Sung; Sagawa, Koichi; Ishikawa, Shiro; Satokata, Ichiro; Mitani, Yoshihide; Kato, Hitoshi; Hamaoka, Kenji; Echigo, Shigeyuki; Shiraishi, Isao; Morisaki, Takayuki

    2016-02-01

    Congenital heart disease (CHD) is the most common birth defect occurring in humans and some transcriptional factors have been identified as causative. However, additional mutation analysis of these genes is necessary to develop effective diagnostic and medical treatment methods. We conducted sequence analysis of the coding regions of NKX2.5, GATA4, TBX1, TBX5, TBX20, CFC1 and ZIC3 in 111 Japanese patients with non-syndromic CHD and 9 of their relatives. All patient samples were also analyzed by multiplex ligation-dependent probe amplification using probes involved in chromosome deletion related to CHD. Five novel variations of TBX5, GATA4 and TBX20 were detected in 6 of the patients, whereas none were found in 200 controls. The TBX5 variation p.Pro108Thr, located in the T-box domain, was identified in a patient with tricuspid atresia, an exon-intron boundary variation of GATA4 (IVS4+5G>A) was detected in a Tetralogy of Fallot patient and an 8p23 microdeletion was detected in one patient with atrioventricular septal defect and psychomotor delay. A total of seven non-synonymous polymorphisms were found in the patients and controls. Accumulation of novel variations of genes involving the cardiac development may be required for better understanding of CHD. PMID:26490186

  13. Care of the Family of an Infant With a Congenital Heart Defect During the NICU Hospitalization.

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    Milford, Cheryl A

    2016-01-01

    The family of an infant born with a congenital heart defect is challenged by both the short- and long-term implications of the diagnosis and the neonatal intensive care unit (NICU) hospitalization. Nurses are in a key position to support these families as they deal with the psychological, emotional, and financial impact of the NICU experience. Understanding how families perceive the NICU environment and their grief in losing the desired healthy baby provides the NICU nurse with the knowledge to engage in self-reflection on her or his interpersonal style and caregiving attitudes. Utilizing the concepts and principles of family-centered care and relationship-based practice, nurses can work together with the families to determine how to best meet the families' needs and to find the resources to support them. Families and colleagues appreciate nurses who demonstrate expertise in this approach to family-centered care. This appreciation leads to greater job satisfaction and decreased job-related stress. PMID:26813393

  14. A Novel Approach to Critical Congenital Heart Disease (CCHD Screening at Moderate Altitude

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    Erin Lueth

    2016-07-01

    Full Text Available The American Academy of Pediatrics (AAP has endorsed Critical Congenital Heart Disease (CCHD screening using pulse oximetry nationwide, but, however, acknowledges that altitude may impact failure rates and alternative algorithms may be required at high altitudes. We therefore evaluated a modified screening protocol at an altitude of 6200 feet with the hypothesis that modifications could decrease failure rates. We evaluated 2001 well, newborn infants ≥35 weeks gestation using a modified protocol, which included a lower saturation cutoff for the first screen (85% instead of the AAP recommended 90% and an oxygen hood intervention between the first two screens. Using our modified screening algorithm, we found a 0.3% failure rate, which was similar to the 0.2% sea-level rate and statistically different from the 1.1% rate identified in a recent study at similar altitude. Had the AAP protocol been used, the failure rate would have increased to 0.8%, which is similar to prior reports near this altitude. Echocardiograms were performed on failing newborns with no CCHD identified. A Birth Defects Registry Database review demonstrated one newborn with CCHD was missed after meeting AAP passing criteria. Overall, this study demonstrates that an alternative algorithm can be implemented at moderate altitude with decreased failure rate and comparable false negative rate.

  15. Impact of congenital heart disease on brain development in newborn infants

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    Moustafa M Abdel Raheem

    2012-01-01

    Full Text Available Objective: To assess brain development and brain injury in neonates with cyanotic and acyanotic congenital heart disease (CHD. Methods: The study included 52 term infants with CHD who were divided into two groups: Cyanotic (n=21 and acyanotic (n=31. Fifteen healthy neonates of matched age and sex were enrolled in the study as controls. Three-dimensional proton magnetic resonance spectroscopic imaging and diffusion tensor imaging were used to assess brain development and injury. We calculated the ratio of N-acetylaspartate (NAA to choline (which increases with maturation, average diffusivity (which decreases with maturation, fractional anisotropy of white matter (which increases with maturation, and the ratio of lactate to choline (which increases with brain injury. Results: As compared with control neonates, those with CHD had significant decrease in NAA/choline ratio (P<0.001, significant increase in lactate/choline ratio (P<0.0001, significant increase in average diffusivity (P<0.0001, and significant decrease of white matter fractional anisotropy (P<0.001. Neonates with cyanotic CHD had significant less brain development and more brain injury than those with acyanotic CHD (P<0.05. Conclusions: Newborn infants with cyanotic and acyanotic CHD are at high risk of brain injury and impaired brain maturity.

  16. Identification of respiratory virus in infants with congenital heart disease by comparison of different methods

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    Tatiana Mitiko Kanashiro

    2011-10-01

    Full Text Available Respiratory virus infections are the main cause of infant hospitalization and are potentially severe in children with congenital heart disease (CHD. Rapid and sensitive diagnosis is very important to early introduction of antiviral treatment and implementation of precautions to control transmission, reducing the risk of nosocomial infections. In the present study we compare different techniques in the diagnosis of respiratory viruses in CHD infants. Thirty-nine samples of nasopharyngeal aspirate were obtained from CHD infants with symptoms of respiratory infection. The Multiplex PCR (Seeplex® RV 12 ACE Detection driven to the detection of 12 respiratory viruses was compared with the direct immunofluorescence assay (DFA and PCR, both targeting seven respiratory viruses. The positivity found by DFA, Multiplex and PCR was 33.3%, 51.3% and 48.7%, respectively. Kappa index comparing DFA and Multiplex, DFA and PCR and PCR and Multiplex PCR was 0.542, 0.483 and 0.539, respectively. The concordance between techniques was considered moderate. Both Multiplex PCR (p = 0.001 and PCR (p = 0.002 detected significantly more respiratory virus than DFA. As the performance of the tests may vary, the combination of two or more techniques may increase diagnostic sensitivity favoring the diagnosis of co-infections, early introduction of antiviral therapy and implementation of appropriate measures.

  17. Newborn Critical Congenital Heart Disease Screening Using Pulse Oximetry: Nursing Aspects.

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    Hom, Lisa A; Martin, Gerard R

    2016-09-01

    Congenital heart disease (CCHD) is the most common birth defect. Screening for the most critical forms (CCHD) using pulse oximetry was added to the Recommended Uniform Screening Panel in the United States in 2011. Since then, CCHD screening has become nearly universal in the United States. Nurses are ideally situated to contribute to the development of best practices for implementation and provide education to families on CCHD screening. Much of the standardization, advocacy, and development of national recommendations occurred with key input from nurses. Nurses often have responsibility for educating parents, performing the screening, interpreting the screening algorithm, and the documentation of results. The nurse role often includes implementing follow-up quality improvement initiatives to ensure that systematic and accurate screening occurs. Smooth implementation can be achieved by identifying champions early, obtaining input from a multidisciplinary team including both physician and nursing leaders, and identifying ways to integrate screening into already existing workflow. By knowing the basics of why screening is important, how to screen, current recommendations on the follow-up for positive screens and the limitations of CCHD screening, nurses can advocate for their patients and positively impact outcomes for infants born with CCHD through early identification before discharge. PMID:27603538

  18. Significance of adrenomedullin under cardiopulmonary bypass in children during surgery for congenital heart disease.

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    Takeuchi M

    2001-08-01

    Full Text Available To elucidate the effect of adrenomedullin (AM on fluid homeostasis under cardiopulmonary bypass (CPB, we investigated the serial changes in plasma AM and other parameters related to fluid homeostasis in 13 children (average age, 28.2 months with congenital heart disease during cardiac surgery under CPB. Arterial blood and urine samples were collected just after initiation of anesthesia, just before commencement of CPB, 10 min before the end of CPB, 60 min after CPB, and 24 h after operation. Plasma AM levels increased significantly 10 min before the end of CPB and decreased 24 h after operation. Urine volume increased transiently during CPB, which paralleled changes in AM. Simple regression analysis showed that plasma AM level correlated significantly with urinary vasopressin, urine volume, urinary sodium excretion, and plasma osmolarity. Stepwise regression analysis indicated that urine volume was the most significant determinant of plasma AM levels. Percent rise in AM during CPB relative to control period correlated with that of plasma brain natriuretic peptide (r = 0.57, P < 0.01. Our results suggest that AM plays an important role in fluid homeostasis under CPB in cooperation with other hormones involved in fluid homeostasis.

  19. Perinatal Decision Making for Preterm Infants with Congenital Heart Disease: Determinable Risk Factors for Mortality.

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    Lynema, Stephanie; Fifer, Carlen G; Laventhal, Naomi T

    2016-06-01

    For premature infants with congenital heart disease (CHD), it may be unclear when the burdens of treatment outweigh potential benefits. Parents may thus have to choose between comfort care at birth and medical stabilization until surgical repair is feasible. Better defined outcome data, including risk factors for mortality, are needed to counsel expectant parents who are considering intensive care for premature infants with CHD. We sought to evaluate outcomes in this population to inform expectant parents considering intensive versus palliative care at birth. We performed a retrospective cohort study of infants born ECA) (p = 0.015). GA and ECA remained significant risk factors for mortality in multiple logistic regression analysis. In summary, GA ECA are determinable prenatally and were significant risk factors for mortality. The majority of infants who survived to cardiac intervention survived neonatal hospitalization, whereas most of the infants who died did so prior to surgery. For some expectant parents, this early declaration of mortality may support a trial of intensive care while avoiding burdensome interventions. PMID:27037550

  20. Recommendations for starting a grown up congenital heart disease (GUCH unit

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    Fernando Tadeu Vasconcelos Amaral

    2015-09-01

    Full Text Available AbstractDuring the last decades, advances in diagnosis and treatment of congenital heart disease have allowed many individuals to reach adulthood. Due mainly to the great diagnostic diversity and to the co-morbidities usually present in this age group, these patients demand assistance in a multidisciplinary facility if an adequate attention is aimed. In this paper we reviewed, based in the international literature and also on the authors’ experience, the structural conditions that should be available for these patients. We highlighted aspects like the facility characteristics, the criteria usually adopted for patient transfer from the paediatric setting, the composition of the medical and para- medical staff taking into account the specific problems, and also the model of outpatient and in-hospital assistance. We also emphasized the importance of patient data storage, the fundamental necessity of institutional support and also the compromise to offer professional training. The crucial relevance of clinical research is also approached, particularly the development of multicenter studies as an appropriate methodology for this heterogeneous patient population.