WorldWideScience

Sample records for cardiac congenital defects

  1. Congenital cardiac defect in a pygmy goat (Capra hircus)

    OpenAIRE

    Laus, Fulvio; COPPONI, Ilenia; Cerquetella, Matteo; FRUGANTI, Alessandro

    2011-01-01

    Congenital cardiac defects are anatomic conditions present at birth. Few references to such conditions in goats are available in the current scientific literature. This report describes, for the first time, a congenital cardiac disease clinically characterized by polypnea from birth and exercise intolerance in a 2-month-old pygmy goat. An atrioventricular dysplasia known as Ebstein's anomaly, an atrial septal defect, and a mild subaortic stenosis were ultrasonographically diagnosed.

  2. Cardiac fusion and complex congenital cardiac defects in thoracopagus twins: diagnostic value of cardiac CT

    Energy Technology Data Exchange (ETDEWEB)

    Goo, Hyun Woo [University of Ulsan College of Medicine, Asan Medical Center, Department of Radiology and Research Institute of Radiology, Seoul (Korea, Republic of); Park, Jeong-Jun [University of Ulsan College of Medicine, Asan Medical Center, Department of Pediatric Cardiac Surgery, Seoul (Korea, Republic of); Kim, Ellen Ai-Rhan [University of Ulsan College of Medicine, Asan Medical Center, Division of Neonatology, Department of Pediatrics, Seoul (Korea, Republic of); Won, Hye-Sung [University of Ulsan College of Medicine, Asan Medical Center, Department of Obstetrics and Gynecology, Seoul (Korea, Republic of)

    2014-09-15

    Most thoracopagus twins present with cardiac fusion and associated congenital cardiac defects, and assessment of this anatomy is of critical importance in determining patient care and outcome. Cardiac CT with electrocardiographic triggering provides an accurate and quick morphological assessment of both intracardiac and extracardiac structures in newborns, making it the best imaging modality to assess thoracopagus twins during the neonatal period. In this case report, we highlight the diagnostic value of cardiac CT in thoracopagus twins with an interatrial channel and complex congenital cardiac defects. (orig.)

  3. Preoperative cardiac computed tomography for demonstration of congenital cardiac septal defect in adults

    International Nuclear Information System (INIS)

    We aimed to evaluate the role of preoperative cardiac computed tomography (CT) for adults with congenital cardiac septal defect (CSD). Sixty-five consecutive patients who underwent preoperative CT and surgery for CSD were included. The diagnostic accuracy of CT and the concordance rate of the subtype classification of CSD were evaluated using surgical findings as the reference standard. Sixty-five patients without CSD who underwent cardiac valve surgery were used as a control group. An incremental value of CT over echocardiography was described retrospectively. Sensitivity and specificity of CT for diagnosis of CSD were 95 % and 100 %, respectively. The concordance rate of subtype classification was 91 % in CT and 92 % in echocardiography. The maximum size of the defect measured by CT correlated well with surgical measurement (r = 0.82), and the limit of agreement was -0.9 ± 7.42 mm. In comparison with echocardiography, CT was able to detect combined abnormalities in three cases, and exclusively provided correct subtype classification or clarified suspected abnormal findings found on echocardiography in seven cases. Cardiac CT can accurately demonstrates CSD in preoperative adult patients. CT may have an incremental role in preoperative planning, particularly in those with more complex anatomy. (orig.)

  4. Preoperative cardiac computed tomography for demonstration of congenital cardiac septal defect in adults

    Energy Technology Data Exchange (ETDEWEB)

    Eom, Hye-Joung; Yang, Dong Hyun; Kang, Joon-Won; Lim, Tae-Hwan [University of Ulsan College of Medicine, Department of Radiology and Research Institute of Radiology, Cardiac Imaging Center, Asan Medical Center, Seoul (Korea, Republic of); Kim, Dae-Hee; Song, Jong-Min; Kang, Duk-Hyun; Song, Jae-Kwan [University of Ulsan College of Medicine, Department of Cardiology and Heart Institute, Cardiac Imaging Center, Asan Medical Center, Seoul (Korea, Republic of); Kim, Joon Bum; Jung, Sung-Ho; Choo, Suk Jung; Chung, Cheol Hyun; Lee, Jae Won [University of Ulsan College of Medicine, Department of Cardiothoracic surgery, Cardiac Imaging Center, Asan Medical Center, Seoul (Korea, Republic of)

    2015-06-01

    We aimed to evaluate the role of preoperative cardiac computed tomography (CT) for adults with congenital cardiac septal defect (CSD). Sixty-five consecutive patients who underwent preoperative CT and surgery for CSD were included. The diagnostic accuracy of CT and the concordance rate of the subtype classification of CSD were evaluated using surgical findings as the reference standard. Sixty-five patients without CSD who underwent cardiac valve surgery were used as a control group. An incremental value of CT over echocardiography was described retrospectively. Sensitivity and specificity of CT for diagnosis of CSD were 95 % and 100 %, respectively. The concordance rate of subtype classification was 91 % in CT and 92 % in echocardiography. The maximum size of the defect measured by CT correlated well with surgical measurement (r = 0.82), and the limit of agreement was -0.9 ± 7.42 mm. In comparison with echocardiography, CT was able to detect combined abnormalities in three cases, and exclusively provided correct subtype classification or clarified suspected abnormal findings found on echocardiography in seven cases. Cardiac CT can accurately demonstrates CSD in preoperative adult patients. CT may have an incremental role in preoperative planning, particularly in those with more complex anatomy. (orig.)

  5. 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 ...

  6. Impact of Congenital Heart Defects

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    ... 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 ...

  7. Population-based evaluation of a suggested anatomic and clinical classification of congenital heart defects based on the International Paediatric and Congenital Cardiac Code

    Directory of Open Access Journals (Sweden)

    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.

  8. Alternative hybrid and staged interventional treatment of congenital heart defects in critically ill children with complex and non-cardiac problems

    OpenAIRE

    Haponiuk, Ireneusz; Chojnicki, Maciej; Jaworski, Radosław; Steffens, Mariusz; Szofer-Sendrowska, Aneta; Paczkowski, Konrad; Kwaśniak, Ewelina; Zieliński, Jacek; Gierat-Haponiuk, Katarzyna; Leszczyńska, Katarzyna

    2015-01-01

    Introduction An individually designed strategy of comprehensive alternative hybrid and staged interventional treatment (AHASIT) can be a reasonable alternative to conventional treatment of congenital heart defects, reduce the risk of cardiac surgery or interventions performed separately, and give an additional chance for critically ill children. Aim To present our experience and the results of AHASIT of severely ill or borderline children referred for surgery with the diagnosis of congenital ...

  9. 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 ...

  10. [Congenital defects and incapacity].

    Science.gov (United States)

    Jouve de la Barreda, Nicolás

    2009-01-01

    As a whole the congenital defects constitute an important section of the medical attention affecting near 3% of the population. A 15% of spontaneous abortions take place of which the greater frequency corresponds to the chromosome anomalies (25%) and the monogenic mutations (20%) and in a lesser extent to the effects of teratogenic agents. Between the genetic causes determining the congenital defects the mutations that affect genes acting in the early stages of development occupy a main place. These alterations can affect to homeotic genes or monogenic systems that act during the critical phases of the organogenesis. It seems evident that an alteration in the expression of a necessary gene for the appearance of a morphogenetic change constitutes the angular stone to understand resurging of a malformation or discapacity. In the last years has been demonstrated the importance of the teratogenic or environmental agents on the delicate internal physiological balance during the critical stages of the development. In this context must be included the inductive environmental factors inducing epigenetic modifications in the early stage of the development of the embryos produced by fertilization in vitro. PMID:19799481

  11. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Alok Sachan

    2010-01-01

    Full Text Available Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59% patients (6 males and 4 females had congenital malformations. Two had more than one congenital malformation (both spina bifida and ostium secundum atrial septal defect. Five (29% had cardiac malformations, of whom three had only osteum secundum atrial septal defect (ASD, one had only patent ductus arteriosus (PDA, and one patient had both ASD and PDA. Seven patients (41% had neural tube defects in the form of spina bifida occulta. Conclusion. Our study indicates the need for routine echocardiography in all patients with congenital hypothyroidism.

  12. 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.)

  13. 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.

  14. Three dimensional echocardiography in congenital heart defects

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    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.

  15. 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

  16. 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 ...

  17. Single ventricle cardiac defect

    International Nuclear Information System (INIS)

    Single ventricle heart is defined as a rare cardiac abnormality with a single ventricle chamber involving diverse functional and physiological defects. Our case is of a ten month-old baby boy who died shortly after admission to the hospital due to vomiting and diarrhoea. Autopsy findings revealed cyanosis of finger nails and ears. Internal examination revealed; large heart, weighing 60 grams, single ventricle, without a septum and upper membranous part. Single ventricle is a rare pathology, hence, this paper aims to discuss this case from a medico-legal point of view. (author)

  18. Congenital cardiac malformations in congenital hypothyroid patients in Isfahan

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    Mohammad Reza Sabri

    2006-11-01

    Full Text Available BACKGROUND: Congenital hypothyroidism (CH often seems to be associated with other congenital abnormalities, mostly cardiac in nature. The aim of this study was to determine the prevalence of cardiac malformations in patients with CH diagnosed during CH screening program in Isfahan. METHODS: In this cross-sectional study, cardiac malformations were determined in CH patients were compared to controls using echocardiography. The association between cardiac malformations and mean T4 and TSH concentrations, etiology of CH according to radiologic findings and permanent and transient CH were studied in CH patients. RESULTS: Overall, 96 and 59 subjects were included in the case and control groups, respectively. Cardiac malformations were present in 30.2% (n = 29 and 15.2% (n = 9 of case and control groups, respectively; i.e. a higher prevalence in CH patients than in controls (P = 0.03. The prevalence of cardiac malformations without patent foramen oval was 6.25% (n = 6 in CH patients and 1.7% (n = 1 in control group (P = 0.1. There was no significant association between the presence of cardiac malformations and the aforementioned variables. CONCLUSIONS: High prevalence of cardiac malformations in CH patients strongly suggests the potential involvement of genetic factors in the pathogenesis of CH. This emphasizes on the necessity of genetic studies involving CH patients. KEY WORDS: Congenital hypothyroidism, cardiac malformations, genetics.

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

    International Nuclear Information System (INIS)

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

  20. Concomitant slide tracheoplasty and cardiac operation for congenital tracheal stenosis associated with VACTERL.

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    Wu, En-Ting; Wang, Ching-Chia; Lin, Ming-Tai; Huang, Pei-Ming; Chen, Shyh-Jye; Huang, Chi-Hsiang; Hwang, Haw-Kwei; Chen, Ming-Ren; Huang, Shu-Chien

    2013-10-01

    The association of congenital tracheal stenosis and tracheoesophageal (TE) fistula is rare. Here, we report 2 patients with tracheobronchial stenosis (complete cartilage ring) involving the lower trachea and right bronchus. Both patients had associated VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, TE, renal, and limb defects) congenital cardiac defects and tracheal diverticula after repair of the TE fistula in type C esophageal atresia. The stenotic segment began at the orifice of the TE fistula, which became diverticula after the TE fistula was repaired. Concomitant repair of congenital cardiac defects and a slide tracheoplasty with elimination of the diverticula were performed successfully. PMID:24088476

  1. Multiple congenital defects in a newborn foal

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    J.F. Silva

    2014-12-01

    Full Text Available A case of multiple congenital defects in a newborn foal is reported. The animal showed hypoplasia of the left pelvic limb bones, uterus unicornis, congenital diaphragmatic hernia, and unilateral renal and ureteral agenesis. This report includes the macroscopic and microscopic lesions observed in the case.

  2. Multiple congenital defects in a newborn foal

    OpenAIRE

    J.F. Silva; R. Serakides; S.A. França; J.N. Boeloni; N.M. Ocarino

    2014-01-01

    A case of multiple congenital defects in a newborn foal is reported. The animal showed hypoplasia of the left pelvic limb bones, uterus unicornis, congenital diaphragmatic hernia, and unilateral renal and ureteral agenesis. This report includes the macroscopic and microscopic lesions observed in the case.

  3. 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 ...

  4. A Retrospective Study of Congenital Cardiac Abnormality Associated with Scoliosis

    OpenAIRE

    Bozcali, Evin; Ucpunar, Hanifi; Sevencan, Ahmet; Balioglu, Mehmet Bulent; Albayrak, Akif; Polat, Veli

    2016-01-01

    Study Design Retrospective study. Purpose To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. Overview of Literature Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. Methods Ninety co...

  5. Regional Microstructural and Volumetric Magnetic Resonance Imaging (MRI) Abnormalities in the Corpus Callosum of Neonates With Congenital Heart Defect Undergoing Cardiac Surgery.

    Science.gov (United States)

    Hagmann, Cornelia; Singer, Jitka; Latal, Beatrice; Knirsch, Walter; Makki, Malek

    2016-03-01

    The purpose of the study is to investigate the structural development of the corpus callosum in term neonates with congenital heart defect before and after surgery using diffusion tensor imaging and 3-dimensional T1-weighted magnetic resonance imaging (MRI). We compared parallel and radial diffusions, apparent diffusion coefficient (ADC), fractional anisotropy, and volume of 5 substructures of the corpus callosum: genu, rostral body, body, isthmus, and splenium. Compared to healthy controls, we found a significantly lower volume of the splenium and total corpus callosum and a higher radial diffusion and lower fractional anisotropy in the splenium of patients presurgery; a lower volume in all substructures in the postsurgery group; higher radial diffusion in the rostral body, body, and splenium; and a higher apparent diffusion coefficient in the splenium of postsurgery patients. Similar fractional anisotropy changes in congenital heart defect patients were reported in preterm infants. Our findings in apparent diffusion coefficient in the splenium of these patients (pre and postsurgery) are comparable to findings in preterm neonates with psychomotor delay. Delayed maturation of the isthmus was also reported in preterm infants. PMID:26129977

  6. Reproduction and Survival After Cardiac Defect Repair

    Science.gov (United States)

    2016-02-17

    Cardiovascular Diseases; Heart Diseases; Defect, Congenital Heart; Aortic Valve Stenosis; Transposition of Great Vessels; Ductus Arteriosus, Patent; Heart Septal Defects, Atrial; Heart Septal Defects, Ventricular; Down Syndrome; Tetralogy of Fallot; Pulmonic Stenosis; Coarctation of Aorta

  7. Air pollution and congenital heart defects.

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    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

  8. 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...

  9. 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.)

  10. 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.)

  11. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... defect often appear bluish. Total Anomalous Pulmonary Venous Connection The pulmonary veins normally are the blood vessels ... a long, thin tube called a catheter is threaded through blood vessels in the navel (in a ...

  12. 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...

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

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    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

  14. 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...

  15. 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

  16. MESP1 Mutations in Patients with Congenital Heart Defects.

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    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. 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.

  18. 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)

  19. 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...

  20. Magnetic resonance imaging of congenital cardiac abnormalities

    International Nuclear Information System (INIS)

    Magnetic resonance imaging will not replace echocardiography as the simplest and most definitive method of establishing a noninvasive diagnosis in young patients with congenital cardiac malformations, nor will it replace radionuclide angiography for relatively noninvasive detection and quantitation of cardiac shunts. Magnetic resonance imaging is a complementary noninvasive imaging procedure that can answer some questions left in doubt by echocardiography (mainly extracardiac artery and vein assessments) or radionuclide angiography and used as a preferred follow-up imaging method in certain clinical circumstances. In addition, MRI can be a first-line modality for cardiovascular imaging in older patients in whom adequate echo windows are not available. Angiocardiography remains necessary to provide vital physiological data, i.e., chamber pressures, shunt volumes, oxygen saturations, and pulmonary vascular resistance; however, MRI could negate some follow-up catheterizations in appropriate clinical circumstances. High-resolution proton MRI tomography should ultimately permit the accurate evaluation of ventricular volumes, myocardial mass, and the assessment of regional wall motion and ejection fractions. Paramagnetic substances such as manganese ion may ultimately provide a basis for myocardial perfusion imaging. The potential for MRI evaluation of tissue characterization, noninvasive blood-flow measurements, and myocardial metabolism assessment in intriguing and awaits clinical evaluation

  1. FastStats: Birth Defects or Congenital Anomalies

    Science.gov (United States)

    ... this? Submit What's this? Submit Button NCHS Home Birth Defects or Congenital Anomalies Recommend on Facebook Tweet Share ... Data Set [PDF - 993 KB] Search Tables for Birth Defects in Health Data Interactive Trends in Spina Bifida ...

  2. 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 ...

  3. 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

  4. 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....

  5. 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

  6. 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

  7. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

    OpenAIRE

    Alok Sachan; V. Suresh; D Rajasekhar; V. Vanaja; Harinarayan, C. V.; Rajagopal, G.; P Amaresh Reddy

    2010-01-01

    Aim. To identify dysmorphic features and cardiac, skeletal, and urogenital anomalies in patients with congenital hypothyroidism. Patients and Methods. Seventeen children with congenital primary hypothyroidism were recruited. Cause for congenital hypothyroidism was established using ultrasound of thyroid and T99mc radionuclide thyroid scintigraphy. Malformations were identified by clinical examination, echocardiography, X-ray of lumbar spine, and ultrasonography of abdomen. Results. Ten (59...

  8. Elephant Trunk-Like Teratoma of the Face with Compromised Airway in an Infant with Complex Congenital Cardiac Defects: An Anesthetic Challenge.

    Science.gov (United States)

    Maddali, Madan Mohan; Al Balushi, Faisal Khalfan Ahmed; Waje, Niranjan Dilip

    2016-02-01

    Large head and neck teratomas are very rare. Depending on their site of origin, they can produce varying degrees of airway compromise and can interfere with the conduct of general anesthesia. Large space-occupying lesions of the face may even interfere with the simple task of mask ventilation rendering inhaled induction of general anesthesia and maintenance of spontaneous ventilation difficult. If these neoplasms coexist with cardiac lesions necessitating corrective or palliative procedures, the task of oxygenation, ventilation, and securing a definitive airway becomes challenging especially in the presence of underlying unstable hemodynamics. We report on the anesthetic management of a female infant with a facial teratoma and single-ventricle physiology undergoing a cardiac palliative procedure where securing a definitive airway with minimal hemodynamic instability was the immediate requirement. PMID:26599737

  9. 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

  10. Application of robotics in congenital cardiac surgery.

    Science.gov (United States)

    Cannon, Jeremy W; Howe, Robert D; Dupont, Pierre E; Triedman, John K; Marx, Gerald R; del Nido, Pedro J

    2003-01-01

    Over the past 5 years, robotic systems that combine advanced endoscopic imaging with computer-enhanced instrument control have been used for both coronary revascularization and intracardiac procedures in adults. In addition, endoscope positioning systems and articulated instruments with a robotic wrist mechanism have further expanded the potential applications for robotics in cardiac surgery. In pediatric cardiac surgery, potential applications can be divided into simple scope manipulation versus the use of 3-dimensional imaging and a robotic wrist for dissection and reconstruction. A voice-controlled robotic arm for scope manipulation can facilitate current pediatric thoracoscopic procedures such as ligation of patent ductus arteriosus and division of vascular rings. By using an advanced imaging system along with a robotic wrist, more complex extracardiac and even intracardiac procedures can be performed in children. Examples include coarctation repair, septal defect repair, and mitral or tricuspid valvuloplasty. Furthermore, with adequate intracardiac imaging, a robot-assisted off-pump approach to intracardiac pathology is conceivable. New real-time 3-dimensional echocardiography now offers sufficient resolution to enable such procedures, while the addition of instrument tracking, haptic feedback, and novel tissue fixation devices can facilitate safe and reliable intracardiac repair without extracorporeal circulation. PMID:12740773

  11. Altered Cardiac Function and Ventricular Septal Defect in Avian Embryos Exposed to Low-Dose Trichloroethylene

    OpenAIRE

    Echoleah S Rufer; Hacker, Timothy A.; Flentke, George R.; Drake, Victoria J.; Brody, Matthew J.; Lough, John; Susan M. Smith

    2009-01-01

    Trichloroethylene (TCE) is the most frequently reported organic groundwater contaminant in the United States. It is controversial whether gestational TCE exposure causes congenital heart defects. The basis for TCE’s proposed cardiac teratogenicity is not well understood. We previously showed that chick embryos exposed to 8 ppb TCE during cardiac morphogenesis have reduced cardiac output and increased mortality. To further investigate TCE’s cardioteratogenic potential, we exposed in ovo chick ...

  12. Early-term results of minithoracotomy incision for the repair of congenital cardiac defects%胸部小切口微创手术治疗先天性心脏病的早期结果

    Institute of Scientific and Technical Information of China (English)

    高峰; 尤斌; 李平; 徐屹; 许李力; 刘硕; 李光

    2013-01-01

    CPB and aortic clamp times were (76.38 ± 29.97) and (33.49 ± 31.50) minutes,respectively.Median intubation time was (10.53 ± 6.13) hours.Median duration of intensive care and postoperative hospital stay was (14.93 ± 7.65) hours and (5.42 ± 1.98) days,respectively.Only 9 patients(14.3%) received blood transfusion.Follow-up echo showed no residual defect.All patients have gratifying cosmetic results and are in excellent condition after a median follow-up of (13.75 ± 8.91)months.Conclusion The small anterolateral thoracotomy in congenital cardiac surgery is a safe and feasible approach,and with a excellent cosmetic results.

  13. 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.

  14. 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

  15. Major congenital defects. Relevant risk factors. Cienfuegos. 2000-2005.

    Directory of Open Access Journals (Sweden)

    Vivian Vázquez Martínez

    2008-04-01

    Full Text Available Background: Major congenital defects have an impact on perinatal mortality and morbidity with economic and social consequences. Objective: To determine the relevant risk factors linked to the occurrence of congenital defects in Cienfuegos between 2000 and 2005. Methods: A case-control study was carried out. Women with fetus or newborns with major congenital defects formed the case group (255 while the control group consisted of a similar number of healthy children selected each year by a randomized simple sample. The variables gathered by the Cuban Congenital Defects Records were studied. Chi-Square method was used with 95% of accuracy and a reliance rate of 95%; logistic regression was used with the Wald test. Results: There was a predominance of Central Nervous System defects (28, 6%. The most relevant risk factors were a history of congenital defects, smoking habits, and acute infection during the first three months, as well as belong to the third birth on. Conclusion: The most clinical relevant risks factors were the congenital defect history and the acute infection during the firs three months.

  16. 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.

  17. 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...

  18. Genetics Home Reference: congenital bile acid synthesis defect type 2

    Science.gov (United States)

    ... DEFECT, CONGENITAL, 2 Sources for This Page Clayton PT. Disorders of bile acid synthesis. J Inherit Metab ... J, Duran M, Overmars H, Scambler PJ, Clayton PT. Mutations in SRD5B1 (AKR1D1), the gene encoding delta( ...

  19. 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.)

  20. 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

  1. 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.)

  2. 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...

  3. 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.

  4. 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

  5. Chromosomal abnormalities among children born with conotruncal cardiac defects

    Science.gov (United States)

    Lammer, Edward J.; Chak, Jacqueline S.; Iovannisci, David M.; Schultz, Kathleen; Osoegawa, Kazutoyo; Yang, Wei; Carmichael, Suzan L.; Shaw, Gary M.

    2010-01-01

    BACKGROUND Conotruncal heart defects comprise 25%-30% of non-syndromic congenital heart defects. This study describes the frequency of chromosome abnormalities and microdeletion 22q11 associated with conotruncal heart malformations. METHODS From a population base of 974,579 infants/fetuses delivered, 622 Californian infants/fetuses were ascertained with a defect of aortico-pulmonary septation. Infants whose primary cardiac defect was tetralogy of Fallot (n=296) or D-transposition of the great vessels (n=189) were screened for microdeletions of 22q11. RESULTS Fourteen (2.3%) of the 622 infants/fetuses had chromosomal abnormalities. Thirty infants, 10% of those whose primary defect was tetralogy of Fallot, had chromosome 22q11 microdeletions. Right aortic arch, abnormal branching patterns of the major arteries arising from the thoracic aorta, and pulmonary artery abnormalities were observed more frequently in these children. CONCLUSIONS We found an unusual number of infants with an extra sex chromosome and a conotruncal defect. Infants with tetralogy of Fallot due to 22q11 microdeletion showed more associated vascular anomalies than infants with tetralogy but no 22q11 microdeletion. Although these associated vascular anomalies provide clues as to which infants with tetralogy of Fallot are more likely to carry the microdeletion, the overall risk of 10% among all infants with tetralogy of Fallot warrants chromosome analysis and FISH testing routinely. PMID:19067405

  6. 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

  7. 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

  8. Echocardiographic diagnosis and necropsy findings of a congenital ventricular septal defect in a stranded harbor porpoise.

    Science.gov (United States)

    Szatmári, Viktor; Bunskoek, Paulien; Kuiken, Thijs; van den Berg, Annemarie; van Elk, Cornelis

    2016-03-30

    A live-stranded harbor porpoise Phocoena phocoena was found on the west coast of the Dutch island Texel (North Sea) and transported to a rehabilitation center for small cetaceans, where it underwent a veterinary health check. Cardiac auscultation revealed a systolic cardiac murmur with the point of maximal intensity in the right hemithorax with an intensity of IV out of VI. Transthoracic echocardiography revealed a congenital ventricular septal defect with left-to-right shunting. Because the left atrium was not dilated according to the reference range of canine left atrium to aortic ratio, the presence of congestive heart failure was considered very unlikely. Therefore, this congenital cardiac anomaly was thought to be a clinically non-relevant incidental finding and would not explain the weakness, coughing, anorexia, vomiting, and diarrhea. Because the animal was still unable to swim or eat by itself after 2 wk of supportive care, it was euthanized. Post-mortem examination confirmed the presence of a ventricular septal defect. The weight of the heart relative to the animal's length was greater than expected, using linear regression analysis on the lengths and cardiac weights of 71 other stranded wild harbor porpoises without macroscopic cardiac pathologic changes. This finding suggests that the left ventricle had an eccentric hypertrophy because of volume overload resulting from the intracardiac shunt. This is the first report of a congenital cardiac anomaly and its ante-mortem diagnosis in this species. Data presented for the other 71 harbor porpoises may provide reference values for this species. PMID:27025305

  9. 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

  10. Four Polygamous Families with Congenital Birth Defects from Fallujah, Iraq

    Directory of Open Access Journals (Sweden)

    Paola Manduca

    2010-12-01

    Full Text Available Since 2003, congenital malformations have increased to account for 15% of all births in Fallujah, Iraq. Congenital heart defects have the highest incidence, followed by neural tube defects. Similar birth defects were reported in other populations exposed to war contaminants. While the causes of increased prevalence of birth defects are under investigation, we opted to release this communication to contribute to exploration of these issues. By using a questionnaire, containing residential history and activities that may have led to exposure to war contaminants, retrospective reproductive history of four polygamous Fallujah families were documented. Our findings point to sporadic, untargeted events, with different phenotypes in each family and increased recurrence. The prevalence of familial birth defects after 2003 highlights the relevance of epigenetic mechanisms and offers insights to focus research, with the aim of reducing further damage to people’s health.

  11. The epidemiology of cardiovascular defects, part I: a study based on data from three large registries of congenital malformations.

    Science.gov (United States)

    Pradat, P; Francannet, C; Harris, J A; Robert, E

    2003-01-01

    To analyze complex and noncomplex cardiac malformations regarding prevalence and in relation to demographic variables, we pooled data on infants (age 1 year or younger) with congenital cardiovascular defects from three large birth defect registries in California, Sweden, and France. Altogether, 12,932 infants had one or more congenital heart defects out of 4.4 million live births and stillbirths. The registries in Sweden and France obtained data through reporting from various sources; in California, medical records were reviewed. As expected, definitions and ascertained conditions differed among each of the registries. The total rates for severe defects were similar (1.43 per 1,000), but differed for specific defects. Clear differences in epidemiological characteristics existed for specific defects; for example, severe cardiac defects sex ratios were significantly high for hypoplastic left heart syndrome, d-transposition of great vessels, double outlet right ventricle, total anoralous pulmonary venous return, tetralogy of Fallot, and significantly low for pulmonary atresia without ventricular septal defect and endocardial cushion defect. Few defects were similar for several epidemiological characteristics, but, for example, the combination of ventricular and atrial septal defects appeared equivalent with endocardial cushion defect under some circumstances, yet behaved differently with regard to associated noncardiovascular defects. PMID:12632215

  12. Incidental finding of congenital pericardial and mediastinal pleural defect by pneumothorax in an adult

    International Nuclear Information System (INIS)

    Introduction: Congenital pericardial defect (CPD) is an uncommon anomaly. If once cardiac herniation occurs, it threatens life. We report a case of left-sided pneumothorax with consequent protrusion of the heart into left thoracic cavity through not only a large CPD but also congenital pleuropericardium window. Case presentation: A 67-year-old man presenting with sudden-onset left-sided chest pain and slight dyspnea was referred to our hospital. Chest X-ray showed a left lung collapse, and also revealed a pneumopericardium along the right border of the ascending aorta. Subsequent computed tomography (CT) scan revealed that the heart was displaced into the left hemithorax. Thus, we diagnosed the patient with pneumothorax and a defect of the pericardial and mediastinal pleurae. Subsequently, a chest tube was inserted into the left thoracic cavity, and the collapsed lung was promptly inflated. The cardiac position was reinstated within mediastinum as evidenced by follow-up CT scan. The QRS axis on his electrocardiogram (ECG) was altered from 52° to 73°. Together with the cardiac relocation evidenced by the QRS axis shift on ECG and findings of CT, we determined that there was a low potential for complications and opted against surgical repair. Discussion: When the CPD is sufficiently large, surgical intervention is not necessary. The size of the CPD can be assessed not only by CT findings, but the alteration of the QRS axis on ECG also provides useful information whether cardiac herniation can be resolved by the inflated lung. - Highlights: • We reported a case of congenital pericardial defect (CPD) with pneumothorax. • We described how to manage to alleviate life-threatening complications. • The size of CPD was assessed by CT findings and the alteration of QRS axis on ECG

  13. MR tomography in cardiac septum defects

    International Nuclear Information System (INIS)

    Various flow phenomena can occur in MR tomography of the heart. In the present study the influence of various examination parameters on the imaging of flow phenomena behind cardiac septum defects was investigated by means of a model. In the examination by fast field echo sequence (FFE) the contrast between poststenotic jet and surrounding area was most pronounced if short echo times (TE 10 ms), a narrow flip angle (d=10 ) and layers of minor thickness (d=5 mm) had been selected. The number of acquisitions and the flow compensation exercised only slight influence on contrast. Our results point to the possibility of obtaining quantitative information on cardiac septum defects if the influence of examination parameters on the imaging of flow phenomena is accurately known. (orig.)

  14. MANAGEMENT OF CONGENITAL NEUROLOGICAL DEFECTS: ANAESTHESIOLOGIST’S CHALLENGE

    OpenAIRE

    Harpreet; Ranjana,; Veena,

    2016-01-01

    Lumbosacral meningomyelocele and hydrocephalus are two major congenital neurological defects in paediatric patients. METHODS We have discussed management of two cases, one of large meningomyelocele and second of massive hydrocephalus. Both cases were done successfully under general anaesthesia taking care of proper positioning. Child with meningomyelocele was positioned supine on two sand bags, creating a doughnut shaped depression to accommodate the meningomyelocele. Pat...

  15. 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

  16. 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 ...

  17. Management of the Sequelae of Severe Congenital Abdominal Wall Defects

    Science.gov (United States)

    Marti, Eunate; Delgado, Maria-Dolores; Gomez, Andres

    2016-01-01

    Background The survival rate of newborns with severe congenital abdominal wall defects has increased. After successfully addressing life-threatening complications, it is necessary to focus on the cosmetic and functional outcomes of the abdominal wall. Methods We performed a chart review of five cases treated in our institution. Results Five patients, ranging from seven to 18 years of age, underwent the following surgical approaches: simple approximation of the rectus abdominis fascia, the rectus abdominis sheath turnover flap, the placement of submuscular tissue expanders, mesh repair, or a combination of these techniques depending on the characteristics of each individual case. Conclusions Patients with severe congenital abdominal wall defects require individualized surgical treatment to address both the aesthetic and functional issues related to the sequelae of their defects. PMID:27218024

  18. 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)

  19. Betaine supplementation reduces congenital defects after prenatal alcohol exposure (Conference Presentation)

    Science.gov (United States)

    Karunamuni, Ganga; Gu, Shi; Doughman, Yong Qiu; Sheehan, Megan M.; Ma, Pei; Peterson, Lindsy M.; Linask, Kersti K.; Jenkins, Michael W.; Rollins, Andrew M.; Watanabe, Michiko

    2016-03-01

    Over 500,000 women per year in the United States drink during pregnancy, and 1 in 5 of this population also binge drink. As high as 20-50% of live-born children with prenatal alcohol exposure (PAE) present with congenital heart defects including outflow and valvuloseptal anomalies that can be life-threatening. Previously we established a model of PAE (modeling a single binge drinking episode) in the avian embryo and used optical coherence tomography (OCT) imaging to assay early-stage cardiac function/structure and late-stage cardiac defects. At early stages, alcohol/ethanol-exposed embryos had smaller cardiac cushions and increased retrograde flow. At late stages, they presented with gross morphological defects in the head and chest wall, and also exhibited smaller or abnormal atrio-ventricular (AV) valves, thinner interventricular septae (IVS), and smaller vessel diameters for the aortic trunk branches. In other animal models, the methyl donor betaine (found naturally in many foods such as wheat bran, quinoa, beets and spinach) ameliorates neurobehavioral deficits associated with PAE but the effects on heart structure are unknown. In our model of PAE, betaine supplementation led to a reduction in gross structural defects and appeared to protect against certain types of cardiac defects such as ventricular septal defects and abnormal AV valvular morphology. Furthermore, vessel diameters, IVS thicknesses and mural AV leaflet volumes were normalized while the septal AV leaflet volume was increased. These findings highlight the importance of betaine and potentially methylation levels in the prevention of PAE-related birth defects which could have significant implications for public health.

  20. MR imaging in congenital complicated anterior body wall defects

    International Nuclear Information System (INIS)

    Introduction: Aim of this study was to estimate the value of postmortem MR imaging in evaluation of specimen with congenital anterior body wall defects of the museum of pathologic-anatomy. Material and Methods: We examined 19 specimen with a 1.5 Tesla unit by using T1- and T2-weighted sagittal and coronal sequences. In some specimen additional axial T2-weighted images were obtained. We evaluated the site of the bowel, the liver, the heart and presence of associated disorders. Results: The bowels were completely intraabdominal, in two specimen, completely extraabdominal in 12 specimen and in 5 specimen intra- and extraabdominal. The liver was in two specimen completely extraabdominal/in 12 completely intracorporal, and in 5 specimen intra- and extraabdominal. In 5 cases the heart was located extraanatomically. In 12 specimen we found disorders of the spine and the extremities. Congenital disorders of the kidneys were found in 6 specimen. Conclusion: MR imaging is of great value in the assessment of congenital anterior body wall defects. In the light of ultrafast sequences the role of fetal MR imaging in the evaluation of congenital body wall defects may be mandatory in the future. (orig.)

  1. [Congenital defects of tibia and fibula].

    Science.gov (United States)

    de Meulemeester, F R; Verbout, A J

    1988-12-01

    This study comprised 7 patients with longitudinal anomalies of the knee and leg classified in accordance with the 'classification of congenital limb deficiencies' introduced by Frantz and O'Rahilly. The anomalies were paraxial hemimelia of the fibula (4 instances), paraxial hemimelia of the tibia (6 instances). In the absence of the proximal tibia, therapy consisted of knee reconstruction according to Brown. In the absence of the distal part of the tibia a proximal tibiofibular synostosis was performed. In one instance corrective osteotomy of the tibia was required in the absence of the fibula. Exarticulation according to Syme was resorted in order to cope with an incorrigible abnormal position of the foot and for leg length inequality. The therapy should aim at giving the child walking ability at a normal time. Exarticulation has to be preferred to amputation in the treatment of these patients. PMID:3238675

  2. Congenital defects of atlantal arch. A report of eight cases

    International Nuclear Information System (INIS)

    Atlantal arch defects are rare. The purpose of this paper is to investigate the incidence and clinical implications of these, using Cervical CT with traumatic patients. A retrospective review of 1,534 cervical spine computed tomography (CT) scans was performed to identify patients with atlantal arch defects. Posterior arch defects of the atlas were grouped in accordance with the classification of Currarino et al. Posterior arch defects were found in 7 (7/1534, 0.44%) and anterior arch defects were found in 2 (2/1534, 0.13%) of the 1,534 patients. The type A posterior arch defect was found in 5 patients and the type B posterior arch defect was found in 2 patients. No type C, D, or E defects were observed. One patient with a type B posterior arch defect had an anterior atlantal-arch midline cleft. Associated cervical spine anomaly was not observed in our cases. None of the reviewed patients had neurological deficits because of atlantal arch defects. Most congenital anomalies of the atlantal arch are found incidentally during investigation of neck mass, neck pain, radiculopathy, and after trauma. Almost cases of atlantal arch defects are not need to operate. But it is important to note some cases require surgical treatment. (author)

  3. IS CONSANGUINEOUS MARRIAGE RESPONSIBLE FOR CONGENITAL CARDIAC AND EXTRA-CARDIAC ANOMALIES?

    OpenAIRE

    Nutan Nalini; Sudha

    2016-01-01

    BACKGROUND This article is about the stillbirth in which we found significant numbers of cardiac as well as extracardiac defects, in combination or separately. In this article, we would like to emphasize the anomalies found in consanguineous marriages. AIM To correlate the prevalence of cardiac as well as extracardiac anomalies in consanguineous marriages. Especially, here we would like to focus on the cardiac lesions. MATERIAL AND METHOD The study was ca...

  4. Prenatal diagnosis of cardiac defects : accuracy and benefit

    NARCIS (Netherlands)

    Clur, S. A.; Van Brussel, P. M.; Ottenkamp, J.; Bilardo, C. M.

    2012-01-01

    Objective The prenatal diagnosis of cardiac defects can potentially reduce postnatal morbidity and mortality. We wanted to evaluate prenatal cardiac diagnosis accuracy in a population referred for echocardiography. Methods Single centre retrospective study of echocardiography referrals between April

  5. 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

  6. Left main coronary artery atresia and associated cardiac defects: report on concomitant surgical treatment.

    Science.gov (United States)

    Jatene, Marcelo; Juaneda, Ignacio; Miranda, Rogerio Dos Anjos; Gato, Rafaella; Marcial, Miguel Lorenzo Barbero

    2011-10-01

    A 9-year-old boy with congenital atresia of the left main coronary artery underwent myocardial revascularization. Coarctation of the aorta and ventricular septal defect were diagnosed at the age of 1 year. At age 7 years, the child presented with syncope while exercising. Preoperative evaluation included cardiac catheterization which revealed the unexpected finding of congenital atresia of the left main coronary artery with origin of the circumflex artery from the right coronary artery. Surgical correction included myocardial revascularization by means of left internal mammary artery graft to the anterior descending coronary artery, coarctation resection, and ventricular septal defect repair. The patient recovered uneventfully. We report the details of this extremely rare case with successful concomitant surgical management of the congenital coronary artery anomaly and the associated structural heart disease. PMID:23804483

  7. 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

  8. 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...

  9. 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.

  10. Loss-of-Function Mutations in Growth Differentiation Factor-1 (GDF1) Are Associated with Congenital Heart Defects in Humans

    Science.gov (United States)

    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 leading to the proper looping and vessel remodeling of the normally asymmetrically developed heart and vessels. Here, we show that heterozygous loss-of-function mutations in the human GDF1 gene contribute to cardiac defects ranging from tetralogy of Fallot to transposition of the great arteries and that decreased TGF-β signaling provides a framework for understanding their pathogenesis. These findings implicate perturbations of the TGF-β signaling pathway in the causation of a major subclass of human CHDs. PMID:17924340

  11. Developing Tools to Measure Quality in Congenital Catheterization and Interventions: The Congenital Cardiac Catheterization Project on Outcomes (C3PO)

    OpenAIRE

    Chaudhry-Waterman, Nadia; Coombs, Sandra; Porras, Diego; Holzer, Ralf; Bergersen, Lisa

    2014-01-01

    The broad range of relatively rare procedures performed in pediatric cardiac catheterization laboratories has made the standardization of care and risk assessment in the field statistically quite problematic. However, with the growing number of patients who undergo cardiac catheterization, it has become imperative that the cardiology community overcomes these challenges to study patient outcomes. The Congenital Cardiac Catheterization Project on Outcomes was able to develop benchmarks, tools ...

  12. 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

  13. Visualization of a Small Ventricular Septal Defect at First-pass Contrast-enhanced Cardiac Magnetic Resonance Imaging

    Directory of Open Access Journals (Sweden)

    Francesco Secchi

    2013-01-01

    Full Text Available Ventricular septal defect (VSD is a congenital heart disease that accounts for up to 40% of all congenital cardiac malformations. VSD is a connection between right and left ventricle, through the ventricular septum. Echocardiography and magnetic resonance imaging (MRI help identify this entity. This case presents a 12-year-old male diagnosed with a small muscular apical VSD of 3 mm in diameter, at echocardiography. Cardiac MRI using first-pass perfusion sequence, combining the right plane of acquisition with a short bolus of contrast material, clearly confirmed the presence of VSD.

  14. Congenital tracheal defects: embryonic development and animal models

    Directory of Open Access Journals (Sweden)

    Zenab Arooj Sher

    2016-03-01

    Full Text Available Tracheal anomalies are potentially catastrophic congenital defects. As a newborn begins to breathe, the trachea needs to maintain an appropriate balance of elasticity and rigidity. If the tracheal cartilages are disorganized or structurally weak, the airways can collapse, obstructing breathing. Cartilage rings that are too small or too rigid can also obstruct breathing. These anomalies are frequently associated with craniofacial syndromes, and, despite the importance, are poorly understood. In this review, we summarize the spectrum of pathological phenotypes of the trachea and correlate them with the molecular events uncovered in mouse models.

  15. 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...

  16. Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects

    Directory of Open Access Journals (Sweden)

    Fabricio González-Andrade

    2010-04-01

    Full Text Available Fabricio González-Andrade1, Ramiro López-Pulles21Department of Medicine, Metropolitan Hospital, Quito, Ecuador; 2Science and Technology Process of the Ministry of Public Health, Biomedical Center of the Central University and Regional Autonomic University of the Audes, Quito, Ecuador Universidad Central del Ecuador, Quito, EcuadorAim: This study sets out (a to estimate the prevalence of admissions by birth defects, using the official database of hospitals of Ecuador; and (b to set the basis for a new National Register of Birth Defects in Ecuador that works as a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Ecuadorian hospitals, using a case-control methodological approach. This is the first report in their class.Methods: The data used in this study are derived from the National Register of Hospital Admission/Discharges of the Instituto Nacional de Estadísticas y Censos; data of the Ministry of Public Health were also used. Ecuador does not have an official Medical Birth Registry or a Congenital Malformations Registry.Results: A total of 51,375 discharges by congenital malformations were registered in a 7-year period. Of these, 16,679 admissions were of children aged less than 1 year of age, with a birth prevalence rate (BPR of 72.33/10,000 births. 77% of the congenital defects registered comprise the 50 most common birth defects observed in this age group. Cleft lip was the most prevalent birth defect in children less than 1 year of age and the second most common defect in children 1 to 5 years of age. Unilateral cleft lip shows a BPR of 4.57/10,000 births; cardiac birth defects as a group have a BPR of 4.2; hydrocephalus a BPR of 3.77; and Down’s syndrome a BPR of 3.70. Undescended testicle was the most prevalent birth defect in children between 1 to 5 years. 9384 children under 1 year of age were male (55.9% and 7053 were female (42.1%. BPR in males was 40.45 and in

  17. Familial Atrial Septal Defect and Sudden Cardiac Death

    DEFF Research Database (Denmark)

    Ellesøe, Sabrina Gade; Johansen, Morten Munk; Bjerre, Jesper Vandborg;

    2016-01-01

    OBJECTIVE: Atrial septal defect (ASD) is the second most common congenital heart defect (CHD) and is observed in families as an autosomal dominant trait as well as in nonfamilial CHD. Mutations in the NKX2-5 gene, located on chromosome 5, are associated with ASD, often combined with conduction...

  18. 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.

  19. 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.

  20. 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.

  1. 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....

  2. 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...

  3. Incidence and Management of Life-Threatening Adverse Events During Cardiac Catheterization for Congenital Heart Disease

    OpenAIRE

    Lin, C. Huie; Hegde, Sanjeet; Marshall, Audrey C.; Porras, Diego; Gauvreau, Kimberlee; Balzer, David T.; Beekman, Robert H.; Torres, Alejandro; Vincent, Julie A.; Moore, John W.; Holzer, Ralf; Armsby, Laurie; Bergersen, Lisa

    2013-01-01

    Continued advancements in congenital cardiac catheterization and interventions have resulted in increased patient and procedural complexity. Anticipation of life-threatening events and required rescue measures is a critical component to preprocedural preparation. We sought to determine the incidence and nature of life-threatening adverse events in congenital and pediatric cardiac catheterization, risk factors, and resources necessary to anticipate and manage events. Data from 8905 cases perfo...

  4. 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...

  5. 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.

  6. 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

  7. Cardiac Defects and Results of Cardiac Surgery in 22q11.2 Deletion Syndrome

    Science.gov (United States)

    Carotti, Adriano; Digilio, Maria Cristina; Piacentini, Gerardo; Saffirio, Claudia; Di Donato, Roberto M.; Marino, Bruno

    2008-01-01

    Specific types and subtypes of cardiac defects have been described in children with 22q11.2 deletion syndrome as well as in other genetic syndromes. The conotruncal heart defects occurring in patients with 22q11.2 deletion syndrome include tetralogy of Fallot, pulmonary atresia with ventricular septal defect, truncus arteriosus, interrupted aortic…

  8. 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.

  9. Conditional expression of Spry1 in neural crest causes craniofacial and cardiac defects

    Directory of Open Access Journals (Sweden)

    Spicer Douglas B

    2010-05-01

    Full Text Available Abstract Background Growth factors and their receptors are mediators of organogenesis and must be tightly regulated in a temporal and spatial manner for proper tissue morphogenesis. Intracellular regulators of growth factor signaling pathways provide an additional level of control. Members of the Sprouty family negatively regulate receptor tyrosine kinase pathways in several developmental contexts. To gain insight into the role of Spry1 in neural crest development, we analyzed the developmental effects of conditional expression of Spry1 in neural crest-derived tissues. Results Here we report that conditional expression of Spry1 in neural crest cells causes defects in craniofacial and cardiac development in mice. Spry1;Wnt1-Cre embryos die perinatally and exhibit facial clefting, cleft palate, cardiac and cranial nerve defects. These defects appear to be the result of decreased proliferation and increased apoptosis of neural crest and neural crest-derived cell populations. In addition, the domains of expression of several key transcription factors important to normal craniofacial and cardiac development including AP2, Msx2, Dlx5, and Dlx6 were reduced in Spry1;Wnt1-Cre transgenic embryos. Conclusion Collectively, these data suggest that Spry1 is an important regulator of craniofacial and cardiac morphogenesis and perturbations in Spry1 levels may contribute to congenital disorders involving tissues of neural crest origin.

  10. Serum TnT concentration in post-operative children patients with congenital cardiac disease

    International Nuclear Information System (INIS)

    The TnT (troponin) concentration in 31 children patients with congenital cardiac disease both before and after operation was measured. The result shows that the TnT concentrations increase remarkably after operation and become normal gradually. The TnT concentration can indicate recovery process of the cardiac muscles after surgery

  11. 自体肺动脉组织一期矫治主动脉弓病变合并心内畸形%One-stage repair of congenital aortic arch disease with other cardiac defects by using autologous pulmonary artery tissue

    Institute of Scientific and Technical Information of China (English)

    薛辉; 吴清玉; 李洪银; 张明奎; 奚吉成; 潘广玉; 徐忠华

    2010-01-01

    Objective To analyze the surgical strategy and result of one-stage repair for congenital aortic arch disease associated with other cardiac anomalies. Methods Between April 1993 and November 2009, 25 consecutive patients aged 26 d to 6. 5 years underwent one-stage repair for congenital aortic arch disease with other cardiac anomalies. Among them, 6 patients had coarctation of aorta, 6 patients had interrupted aortic arch, and 13 cases had hypoplasia of aortic arch. The surgical techniques include excision of the anterior wall of pulmonary artery, resection of patent ductus arteriosus tissue, aortic arch reconstruction with autologous pulmonary artery wall, reconstruction of the pulmonary artery and repair of the associated defects. Results Twenty-four patients survived and recovered uneventfully. One patient died of pulmonary hypertention crisis in hospital. The reconstruction of the aorta and the correction of the intracardiac anomalies were proved by postoperative echocardiography and CT scan. There were no neurological or other complications. The follow-up showed that all patients developed normally and there were no restenosis of the aorta arch. Conclusions With the benefits of growth potential and less tension, autologous pulmonary artery tissue is an optimal choice in aortic arch reconstruction. One-stage repair of congenital aortic arch disease associated with other cardiac anomalies can achieve good results.%目的 探讨自体肺动脉组织一期矫治主动脉弓病变合并心内畸形的手术方法和治疗效果.方法 1993年4月至2009年11月,共25例主动脉弓病变合并心内畸形的患儿接受了一期矫治手术.男性17例,女性8例;年龄26 d~6.5岁,平均11个月;体质量3.0~14.5 kg,平均12.4 kg.其中6例患儿为主动脉弓缩窄,6例为主动脉弓中断,13例为主动脉弓发育不良.手术技术包括切开肺动脉前壁,切除动脉导管,应用部分自体肺动脉壁重建主动脉弓,重建肺动脉,并

  12. 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

  13. 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...

  14. 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

  15. Can our understanding of epigenetics assist with primary prevention of congenital defects?

    OpenAIRE

    Martínez-Frías, María-Luisa

    2010-01-01

    Abstract Having identified teratogenic factors, primary prevention of congenital defects is possible by the implementation of specific measures in pregnant women or those planning pregnancy. Our current understanding of the epigenetic processes acting during reproductive events raises new possibilities to prevent both heritable and sporadic congenital anomalies. Cell differentiation during embryonic-foetal development involves different epigenetic processes which, if altered, may a...

  16. Early intestinal perforation secondary to congenital mesenteric defects

    Directory of Open Access Journals (Sweden)

    Ingrid Anne Mandy Schierz

    2016-05-01

    Full Text Available Gastrointestinal perforation (GIP in preterm neonates may be idiopathic, due to necrotizing enterocolitis (NEC, or mechanical obstruction. The predominant cause of GIP in the neonatal period is NEC. Differential diagnosis with congenital malformations, including mesenteric defects leading to internal hernias, is mandatory if the onset is early. We describe two newborns with trans-mesenteric herniation resulting in GIP, and we discuss the presence of possible additional risk factors such as prematurity and predisposing vascular disruption in connective tissue disorders (Ehlers-Danlos syndrome, twinning, and use of assisted reproductive technologies. These cases prompted us to review our exploratory laparotomies performed for intestinal obstruction, complicated/or not with perforation, to identify the frequency of neonatal trans-mesenteric hernias in a referral hospital. The prevalence of GIP and of internal hernia was 25% and 3.3%, respectively. In conclusion, time-onset and particular conditions associated with GIP should lead to a high index of suspicion for internal hernias in order to achieve appropriate diagnosis and therapy.

  17. 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

  18. 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...

  19. Coexistence of congenital diaphragmatic hernia and abdominal wall closure defect with chromosomal abnormality: two case reports

    OpenAIRE

    INOUE, SEIICHIRO; ODAKA, AKIO; Muta, Yuki; Beck, Yoshifumi; Sobajima, Hisanori; Tamura, Masanori

    2016-01-01

    Background We reported two rare cases of congenital diaphragmatic hernia with abdominal wall closure defect, which were not associated with septum transversum diaphragmatic defects or Fryns syndrome. Case presentation Case 1: a Japanese baby boy was delivered at 37 weeks’ gestation by urgent cesarean section because of the diagnosis of severe fetal distress. Congenital diaphragmatic hernia with omphalocele was prenatally diagnosed with fetal ultrasound. A ruptured omphalocele was confirmed at...

  20. Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome

    Science.gov (United States)

    Mlynarski, Elisabeth E.; Xie, Michael; Taylor, Deanne; Sheridan, Molly B.; Guo, Tingwei; Racedo, Silvia E.; McDonald-McGinn, Donna M.; Chow, Eva W. C.; Vorstman, Jacob; Swillen, Ann; Devriendt, Koen; Breckpot, Jeroen; Digilio, Maria Cristina; Marino, Bruno; Dallapiccola, Bruno; Philip, Nicole; Simon, Tony J.; Roberts, Amy E.; Piotrowicz, Małgorzata; Bearden, Carrie E.; Eliez, Stephan; Gothelf, Doron; Coleman, Karlene; Kates, Wendy R.; Devoto, Marcella; Zackai, Elaine; Heine-Suñer, Damian; Goldmuntz, Elizabeth; Bassett, Anne S.; Morrow, Bernice E.

    2016-01-01

    The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS; MIM #192430; 188400) is the most common microdeletion syndrome. The phenotypic presentation of 22q11DS is highly variable; approximately 60–75 % of 22q11DS patients have been reported to have a congenital heart defect (CHD), mostly of the conotruncal type, and/or aortic arch defect. The etiology of the cardiac phenotypic variability is not currently known for the majority of patients. We hypothesized that rare copy number variants (CNVs) outside the 22q11.2 deleted region may modify the risk of being born with a CHD in this sensitized population. Rare CNV analysis was performed using Affymetrix SNP Array 6.0 data from 946 22q11DS subjects with CHDs (n = 607) or with normal cardiac anatomy (n = 339). Although there was no significant difference in the overall burden of rare CNVs, an overabundance of CNVs affecting cardiac-related genes was detected in 22q11DS individuals with CHDs. When the rare CNVs were examined with regard to gene interactions, specific cardiac networks, such as Wnt signaling, appear to be overrepresented in 22q11DS CHD cases but not 22q11DS controls with a normal heart. Collectively, these data suggest that CNVs outside the 22q11.2 region may contain genes that modify risk for CHDs in some 22q11DS patients. PMID:26742502

  1. 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.

  2. Congenital Anomalies in Infant with Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    Zahra Razavi

    2012-09-01

    Full Text Available bjective: Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.Methods: The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study was conducted in infants diagnosed with congenital hypothyroidism being followed up in Pediatric Endocrinology Clinicof Besat Hospital, a tertiary care centre in Hamadan. Cases included all infants with congenital hypothyroidism diagnosed through newborn screening program or detected clinically. Anomalies were identified by clinical examination, echocardiography, and X-ray of the hip during the infant’s first year of life.Results: A total of 150 infants with biochemically confirmed primary congenital hypothyroidism (72 females and 78 males were recruited during the period between May 2006-2010. Overall, 30 (20% infants had associated congenital anomalies. The most common type of anomaly was Down syndrome. Seven infants (3.1% had congenital cardiac anomalies such as: ASD (n=3, VSD (n=2, PS (n =1, PDA (n=1. Three children (2.6% had developmental displasia of the hip (n=3.Conclusion: The overall frequency of Down syndrome, cardiac malformation and other birth defect was high in infants with CH. This reinforces the need to examine all infants with congenital hypothyroidism for the presence of associated congenital anomalies.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-05-01

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

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

    International Nuclear Information System (INIS)

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

  5. The developing role of fetal magnetic resonance imaging in the diagnosis of congenital cardiac anomalies: A systematic review

    Directory of Open Access Journals (Sweden)

    Rohit S Loomba

    2011-01-01

    Full Text Available Advances in the fetal magnetic resonance imaging (MRI over the last few years have resulted in the exploring the use of fetal MRI to detect congenital cardiac anomalies. Early detection of congenital cardiac anomalies can help more appropriately manage the infant′s delivery and neonatal management. MRI offers anatomical and functional studies and is a safe adjunct that can help more fully understand a fetus′ cardiac anatomy. It is important for the obstetricians and pediatric cardiologists to be aware of the recent advancements in fetal MRI and it`s potential utility in diagnosing congenital cardiac anomalies.

  6. The developing role of fetal magnetic resonance imaging in the diagnosis of congenital cardiac anomalies: A systematic review

    International Nuclear Information System (INIS)

    Advances in the fetal magnetic resonance imaging (MRI) over the last few years have resulted in the exploring the use of fetal MRI to detect congenital cardiac anomalies. Early detection of congenital cardiac anomalies can help more appropriately manage the infant's delivery and neonatal management. MRI offers anatomical and functional studies and is a safe adjunct that can help more fully understand a fetus' cardiac anatomy. It is important for the obstetricians and pediatric cardiologists to be aware of the recent advancements in fetal MRI and it's potential utility in diagnosing congenital cardiac anomalies

  7. 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...

  8. Pediatric Inpatient Hospital Resource Use for Congenital Heart Defects

    Science.gov (United States)

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

    2015-01-01

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

  9. Folate Deficiency and Folic Acid Supplementation: The Prevention of Neural-Tube Defects and Congenital Heart Defects

    Directory of Open Access Journals (Sweden)

    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”.

  10. [Congenital Defect of the Left Pericardium with Spontaneous Pneumothorax;Report of a Case].

    Science.gov (United States)

    Murasawa, Masaki; Yoshizawa, Masatoshi; Ishida, Hisao; Kuwabara, Masayoshi

    2016-08-01

    Congenital cardiac membrane deficiency is a relatively rare condition. Here, we report a case of congenital cardiac membrane deficiency that manifested as left spontaneous pneumothorax. A 72-year-old man was hospitalized for recurrence of the spontaneous pneumothorax. Computed tomography findings led us to suspect pericardial deficits, and the perioperative findings during thoracoscopic surgery for the pneumothorax confirmed complete absence of the left pericardium. We resected a lung cyst but did not treat the pericardial deficit. The patient's postoperative course was uneventful. PMID:27476572

  11. 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...

  12. Cardiac and Renal Malformations in a Patient with Sepsis and Severe Congenital Neutropenia

    Directory of Open Access Journals (Sweden)

    Aziz Eghbali

    2010-02-01

    Full Text Available Background:G6PC3 deficiency is a new neutropenic syndrome, which is characterized by severe persistent neutropenia, early onset infections and additional organ involvement, especially cardiac and urogenital malformations. Case Presentation:In this report, we present the clinical details of a recently known case of severe congenital neutropenia (SCN with G6PC3 mutation, who experienced the first episode of infections at birth. Repeated absolute neutrophil count of less than 500/?l was detected during work-up of sepsis in the first month of life. SCN was diagnosed and granulocyte colony-stimulating factor (GCSF administration initiated. Bone marrow examination revealed maturation arrest in myeloid series at promyelocyte-myelocyte stage. Diarrhea, bronchiolitis, and urinary tract infection were other infectious complications, while hydronephrosis, atrial septal defect, and patent ductus arteriosus were other manifestations.Conclusion:Prompt and accurate diagnosis of neutropenic patients and appropriate treatment can prevent further complications and improve the quality of life of the affected patients.

  13. A Case of Congenital Hypothyroidism Due to Organification Defect Associated wth Huerthle Cell Adenoma

    International Nuclear Information System (INIS)

    Congenital hypothyroidism due to organification defect was first reported by Haddad and Sidbury in 1959. The organification defect is easily proved by perchlorate discharge test. We experienced a patient who had large goiter, growth and mental retardation, and revealed positive response to perchlorate discharges test, and the surgical biopsied specimen showed Huerthle cell adenoma, which was probably due to chronic stimulation of thyroid stimulating hormone, or coexisted incidentally. Described here a case of congenital hypothyroidism due to organification defect associated with Huerthle cell adenoma, with review of some literatures.

  14. 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

  15. 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

  16. Anesthetic dilemma in planning bilateral cataract surgery for an infant associated with congenital cardiac anomaly

    Directory of Open Access Journals (Sweden)

    Devalina Goswami

    2015-01-01

    Full Text Available In a patient with tetralogy of Fallot (TOF and pulmonary atresia, treating the cardiac problem or the associated congenital illness is always a challenge. We describe the challenges and successful initial management of bilateral cataract to prevent visual loss in an infant with TOF with pulmonary atresia.

  17. Congenital cardiac disease in childhood x socioeconomic conditions: a relationship to be considered in public health?

    Directory of Open Access Journals (Sweden)

    Thayanny Lopes do Vale Barros

    2014-09-01

    Full Text Available Introduction: Congenital heart defects, cardiac malformations that occur in the embryonic period, constitute a serious health problem. They cover a proportion of 8-10 per 1000 live births and contribute to infant mortality. Objective: To identify the socioeconomic status of children undergoing cardiac surgery at the Hospital Universitário da Universidade Federal do Maranhão, in São Luis, the existence of material elements that contribute to worsening conditions. Methods: We conducted a retrospective study with a quantitative approach, descriptive and reflective, from the interviews conducted by the Social Service Social with families of children with heart disease from January 2011 to July 2012. Results: A total of 95 interviews, the results reveal that (75.79% of children have elements that suggest poor socioeconomic conditions. It also shows that only 66.33% lived in brick house, while (31.73% in mud, adobe and straw houses. With regard to income, it showed that only 4.08% received 1-2 minimum wages, while the remaining (95.9% with benchmarks oscillating half the minimum wage (27.55%, 1/4 of the minimum wage and (24.48% and income below 70 dollars per person, featuring extreme poverty. On the social security situation prevailing at children with no ties to 61.22%. With respect to benefits, we found that only (12.24% of children were in the enjoyment of the Continuous Cash Benefit - CCB. Conclusion: Poor socioeconomic conditions listed as major obstacles in meeting the needs, resulting in the maintenance of health conditions and even allowing the aggravation of an existing pathology.

  18. 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...

  19. 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

  20. A case report of congenitally corrected transposition of great arteries: Morphologic and functional evaluation with cardiac CT

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Heon; Park, Byoung Won [College of Medicine, Soonchunhyang University, Bucheon Hospital, Bucheon (Korea, Republic of)

    2013-09-15

    Congenitally corrected transposition of the great arteries (ccTGA) is a rare congenital anomaly characterized by atrioventricular and ventriculoarterial discordance. We report a case of new-onset heart failure in a 69-year-old female in whom cardiac CT demonstrated ccTGA without the associated cardiovascular anomalies. In this case, cardiac CT was useful for elucidating the rare and unexpected congenital etiologies of abrupt-onset heart failure in an old patient by the simultaneous evaluation of cardiac morphology and function as a single study (inserted).

  1. Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects.

    Science.gov (United States)

    Freeman, S B; Torfs, C P; Romitti, P A; Royle, M H; Druschel, C; Hobbs, C A; Sherman, S L

    2009-02-01

    We report Down syndrome (DS)-associated congenital gastrointestinal (GI) defects identified during a 15 year, population-based study of the etiology and phenotypic consequences of trisomy 21. Between 1989 and 2004, six sites collected DNA, clinical and epidemiological information on live-born infants with standard trisomy 21 and their parents. We used chi-squared test and logistic regression to explore relationships between congenital GI defects and infant sex, race, maternal age, origin of the extra chromosome 21, and presence of a congenital heart defect. Congenital GI defects were present in 6.7% of 1892 eligible infants in this large, ethnically diverse, population-based study of DS. Defects included esophageal atresia/tracheoesophageal fistula (0.4%), pyloric stenosis (0.3%), duodenal stenosis/atresia (3.9%), Hirschsprung disease (0.8%), and anal stenosis/atresia (1.0%). We found no statistically significant associations between these defects and the factors examined. Although not significant, esophageal atresia was observed more often in infants of younger mothers and Hispanics, Hirschsprung disease was more frequent in males and in infants of younger mothers and blacks, and anal stenosis/atresia was found more often among females and Asians. PMID:19021635

  2. Live dynamic imaging and analysis of developmental cardiac defects in mouse models with optical coherence tomography

    Science.gov (United States)

    Lopez, Andrew L.; Wang, Shang; Garcia, Monica; Valladolid, Christian; Larin, Kirill V.; Larina, Irina V.

    2015-03-01

    Understanding mouse embryonic development is an invaluable resource for our interpretation of normal human embryology and congenital defects. Our research focuses on developing methods for live imaging and dynamic characterization of early embryonic development in mouse models of human diseases. Using multidisciplinary methods: optical coherence tomography (OCT), live mouse embryo manipulations and static embryo culture, molecular biology, advanced image processing and computational modeling we aim to understand developmental processes. We have developed an OCT based approach to image live early mouse embryos (E8.5 - E9.5) cultured on an imaging stage and visualize developmental events with a spatial resolution of a few micrometers (less than the size of an individual cell) and a frame rate of up to hundreds of frames per second and reconstruct cardiodynamics in 4D (3D+time). We are now using these methods to study how specific embryonic lethal mutations affect cardiac morphology and function during early development.

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

    Directory of Open Access Journals (Sweden)

    Sriram Sabade

    2010-01-01

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

  5. 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

  6. Clinical results of combined palliative procedures for cyanotic congenital heart defects with intractable hypoplasia of pulmonary arteries

    Institute of Scientific and Technical Information of China (English)

    FAN Xiang-ming; ZHU Yao-bin; SU Jun-wu; ZHANG Jing; LI Zhi-qiang; XU Yao-qiang; LI Xiao-feng

    2013-01-01

    Background Congenital heart defects with intractable hypoplasia of the pulmonary arteries without intercourse or with intercourse stenosis is unsuitable for surgical correction or regular palliative procedures.We reported our experience with combined palliative procedures for congenital heart defects with intractable hypoplasia pulmonary arteries.Methods From 2001 to 2012,a total of 41 patients with cyanotic congenital heart defects and intractable hypoplasia of the pulmonary arteries underwent surgical procedures.From among them,31 patients had pulmonary atresia with ventricular septal defect (VSD) and the other 10 cases had complicated congenital heart defects with pulmonary stenosis.Different kinds of palliative procedures were performed according to the morphology of the right and left pulmonary arteries in every patient.If the pulmonary artery was well developed,a Glenn procedure was performed.A modified Blalock-Taussi9 shunt or modified Waterston shunt was performed if pulmonary arteries were hypoplastic.If the pulmonary arteries were severely hypoplastic,a Melbourne shunt was performed.Systemic pulmonary artery shunts were performed bilaterally in 25 cases.A systemic-pulmonary shunt was performed on one side and a Glenn procedure was performed contralaterally in 16 cases.Major aortopulmonary collateral arteries were unifocalized in six cases,ligated in two cases and interventionally embolized in two cases.There was one early death because of cardiac arrest and the hospital mortality was 2.4%.Results Five patients suffered from postoperative low cardiac output syndrome,three had perfusion of the lungs,and two pulmonary infections.Systemic pulmonary shunts were repeated after the original operation in three cases due to the occlusion of conduits.The mean follow-up time was 25 months.The pre-and the post-operation left pulmonary indices were (8.13±3.68) vs.(14.9±6.21) mm2/m2.The pre-and post-operation right pulmonary indices were (12.7±8.13) vs.(17.7±7

  7. Perineal Groove: A Rare Congenital Midline Defect of Perineum.

    Science.gov (United States)

    Harsono, Mimily; Pourcyrous, Massroor

    2016-03-01

    Perineal groove is a rare congenital malformation that is characterized by an exposed wet sulcus with nonkeratinized mucous membrane that extends from the posterior vaginal fourchette to the anterior ridge of the anal orifice. This condition is one of the uncommon anomalies of urogenital/anogenital region that is unknown to many clinicians. Although, this condition may be self-resolved before the age of 2 years, this nonepithelized mucous membrane can pose the risk of local irritation and infection, urinary tract infection, and the possibility of nonself-resolved condition that eventually needs surgical correction. Only a few reported cases (n = 23) were found in current medical literatures. This lesion could be misdiagnosed as contact dermatitis, trauma, or even sexual abuse. Therefore, recognition of the congenital perineal groove at birth is important for the health care providers to deliver an appropriate parental counseling and appropriate follow-up. PMID:26929866

  8. Identity formation in adolescents with congenital cardiac disease: a forgotten issue in the transition to adulthood.

    Science.gov (United States)

    Luyckx, Koen; Goossens, Eva; Van Damme, Carolien; Moons, Philip

    2011-08-01

    Identity formation is a core developmental task in adolescence and functions as a key resource for transitioning to adulthood. This study investigated how adolescents with congenital cardiac disease form their identity and how it relates to demographic and medical parameters, quality of life, perceived health, depressive symptoms, and loneliness. A total of 429 adolescents aged 14-18 years with congenital cardiac disease and 403 matched controls completed questionnaires on identity and all outcome variables. There were five meaningful identity statuses, similar to those obtained in the control sample, which were found in the patient sample. Of them, two statuses--achievement and foreclosure--were characterised by a strong sense of identity; one status--diffused diffusion--especially was characterised by a weak sense of identity combined with high scores on worry about the future. These identity statuses were differentially related to outcome variables, with individuals in diffused diffusion especially scoring highest on depressive symptoms, problems in school, treatment anxiety, and communication problems with clinicians, and lowest on quality of life. Having a strong sense of personal identity was found to protect against such maladaptive outcomes. In sum, most adolescents with congenital cardiac disease moved through their identity formation process in a similar manner to other adolescents. Adolescents with a diffused identity were particularly at risk of experiencing maladjustment and problems in treatment adherence. Hence, developing intervention strategies to provide continuity of care on the road to adulthood involves paying attention to core developmental tasks, such as identity formation in adolescents with congenital cardiac disease. PMID:21406136

  9. 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

  10. 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

  11. Two cases of congenital defects within transverse processes of lumbar spine

    International Nuclear Information System (INIS)

    Two cases of congenital defects of transverse processes of lumbar spine causing lumbalgia are described. The first one was produced by direct contact of the elongated processes with subsequent pseudoarthrosis. Hypertrophied processes caused stenosis around intervertebral foramen and irritated posterior neural branch in the second case. Surgical resection of the hypertrophied transverse processes has brought the cure. (author)

  12. 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...

  13. Factor analysis of multi-gated cardiac blood-pool data in patients with congenital heart disease

    International Nuclear Information System (INIS)

    The present study was undertaken to examine the usefulness of factor analysis in multi-gated cardiac blood-pool scintigraphic studies of 83 patients with various congenital heart diseases. In ventricular and atrial septal defects, two factors, including the first factor for ventricular components and the second factor for atrial and great vessel components, were extracted when Qp/Qs was comparatively small, being similar to normal subjects. In ventricular septal defect associated with higher Qp/Qs, however, the left and right ventricles were extracted as separate factors, thus providing three factors, including atrial and great vessel components. There was a significant positive correlation between Qp/Qs values and delayed ejection phase in both the left and right ventricular factors. In atrial septal defect associated with higher Qp/Qs, the right ventricle was divided into septal and free wall components, and the left ventricle was extracted as the same components as right ventricular septal component. In comparing two dynamic pattern curves of ventricular factors, there was no significant difference between delayed ejection phase and Qp/Qs values, although ejection phase tended to be prolonged in right ventricular free wall factors than both right ventricular septal and left ventricular factors. All patients with Ebstein's malformation had atrial factors in the inflow portion of the right ventricle, allowing clear distinction between the atrialized right ventricle and functional right ventricle. These results suggest that factor analysis may have a potential in analyzing multi-gated blood pool scintigraphic data in various congenital heart diseases. (N.K.)

  14. Gene expression in cardiac tissues from infants with idiopathic conotruncal defects

    Directory of Open Access Journals (Sweden)

    Lofland Gary K

    2011-01-01

    Full Text Available Abstract Background Tetralogy of Fallot (TOF is the most commonly observed conotruncal congenital heart defect. Treatment of these patients has evolved dramatically in the last few decades, yet a genetic explanation is lacking for the failure of cardiac development for the majority of children with TOF. Our goal was to perform genome wide analyses and characterize expression patterns in cardiovascular tissue (right ventricle, pulmonary valve and pulmonary artery obtained at the time of reconstructive surgery from 19 children with tetralogy of Fallot. Methods We employed genome wide gene expression microarrays to characterize cardiovascular tissue (right ventricle, pulmonary valve and pulmonary artery obtained at the time of reconstructive surgery from 19 children with TOF (16 idiopathic and three with 22q11.2 deletions and compared gene expression patterns to normally developing subjects. Results We detected a signal from approximately 26,000 probes reflecting expression from about half of all genes, ranging from 35% to 49% of array probes in the three tissues. More than 1,000 genes had a 2-fold change in expression in the right ventricle (RV of children with TOF as compared to the RV from matched control infants. Most of these genes were involved in compensatory functions (e.g., hypertrophy, cardiac fibrosis and cardiac dilation. However, two canonical pathways involved in spatial and temporal cell differentiation (WNT, p = 0.017 and Notch, p = 0.003 appeared to be generally suppressed. Conclusions The suppression of developmental networks may represent a remnant of a broad malfunction of regulatory pathways leading to inaccurate boundary formation and improper structural development in the embryonic heart. We suggest that small tissue specific genomic and/or epigenetic fluctuations could be cumulative, leading to regulatory network disruption and failure of proper cardiac development.

  15. Congenital hypothyroidism with thyroglobulin defect and substitutional albumin iodination

    International Nuclear Information System (INIS)

    Investigation was carried out in 22 years old man with congenital hypothyroidism and big nodular goiter. There were found: high TSH values, the decrease of T4, T3, and PBI in serum, high thyroidal 131I uptake, and normal result of the perchlorate test. The patient was given orally 100 μCi of Na-131I in order to demonstrate the organic iodine compounds in peripheral blood. The highest contents of 131I was found in the precipitate of serum taken after 96 hours and treated with trichloroacetic acid. Chromatographic separation of this serum sample was carried out on a column with S ephadex G-25. In the first peak, corresponding to the iodoproteins, 56% of total activity of the eluate was comprised. This fraction was identical with the peak obtained by adding radioalbumin to the serum. The peak corresponding to T3 and T4 contained only 18% of total activity of the eluate. (author)

  16. Cardiac MRI and CT features of inheritable and congenital conditions associated with sudden cardiac death

    Energy Technology Data Exchange (ETDEWEB)

    Sparrow, Patrick; Merchant, Naeem; Provost, Yves; Doyle, Deirdre; Nguyen, Elsie; Paul, Narinder [University Health Network and Mount Sinai Hospital, Division of Cardiothoracic Imaging, Department of Medical Imaging, Toronto, Ontario (Canada)

    2009-02-15

    Cardiac MRI (CMR) and electrocardiogram (ECG)-gated multi-detector computed tomography (MDCT) are increasingly important tools in the identification and assessment of cardiac-related disease processes, including those associated with sudden cardiac death (SCD). While the commonest cause of SCD is coronary artery disease (CAD), in patients under 35 years inheritable cardiomyopathies such as hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy are important aetiologies. CMR in particular offers both accurate delineation of the morphological abnormalities associated with these and other conditions and the possibility for risk stratification for development of ventricular arrhythmias with demonstration of macroscopic scar by delayed enhancement imaging with intravenous gadolinium. (orig.)

  17. Maternal factors, medications, and drug exposure in congenital limb reduction defects.

    OpenAIRE

    Froster, U G; Baird, P. A.

    1993-01-01

    As part of an ongoing study on all limb reduction defects occurring among 1,213,913 consecutive live births in the province of British Columbia, Canada, during 1952-1984, cases with documented maternal drug exposure and chronic maternal diseases were analyzed separately. This population-based study was made possible through the existence of an ongoing Health Surveillance Registry, which documents all infants born with congenital, genetic, or chronically handicapping conditions in the province...

  18. 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...

  19. 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...

  20. Percutaneous closure of congenital aortocaval fistula with a coexisting secundum atrial septal defect

    DEFF Research Database (Denmark)

    Loh, Poay Huan; Jensen, Tim; Søndergaard, Lars

    2012-01-01

    Congenital aortocaval fistula is a very rare anomaly. Clinically, it resembles conditions that cause left-to-right shunt of blood. We report a case of such anomaly in combination with a secundum atrial septal defect in a 13-month-old girl who presented with failure to thrive and exertional...... respiratory symptoms. The aortocaval fistula was occluded percutaneously using an Amplatzer® Duct Occluder....

  1. 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...

  2. 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.

  3. Structural defects lead to dynamic entrapment in cardiac electrophysiology.

    Directory of Open Access Journals (Sweden)

    Oliver R J Bates

    Full Text Available Biological networks are typically comprised of many parts whose interactions are governed by nonlinear dynamics. This potentially imbues them with the ability to support multiple attractors, and therefore to exhibit correspondingly distinct patterns of behavior. In particular, multiple attractors have been demonstrated for the electrical activity of the diseased heart in situations where cardioversion is able to convert a reentrant arrhythmia to a stable normal rhythm. Healthy hearts, however, are typically resilient to abnormal rhythms. This raises the question as to how a healthy cardiac cell network must be altered so that it can support multiple distinct behaviors. Here we demonstrate how anatomic defects can give rise to multi-stability in the heart as a function of the electrophysiological properties of the cardiac tissue and the timing of activation of ectopic foci. This leads to a form of hysteretic behavior, which we call dynamic entrapment, whereby the heart can become trapped in aberrant attractor as a result of a transient change in tissue properties. We show that this can lead to a highly inconsistent relationship between clinical symptoms and underlying pathophysiology, which raises the possibility that dynamic entrapment may underlie other forms of chronic idiopathic illness.

  4. 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

  5. Prevalence of congenital heart defects associated with Down syndrome in Korea.

    Science.gov (United States)

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

    2014-11-01

    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 National Health Insurance Corporation. The number of total births in Korea was 888,263 in 2005-2006; of them, 25,975 cases of birth defects were identified. The prevalence of DS was 4.4 per 10,000 total births, accounting for 1.5% of all birth defects. Of the 394 infants with DS, 224 (56.9%) had a CHD. Atrial septal defect was the most common defect accounting for 30.5% of DS followed by ventricular septal defect (19.3%), patent duct arteriosus (17.5%), and atrioventricular septal defect (9.4%). Our study will be helpful to demonstrate the current status of DS and to identify the distribution of CHD in infants with DS in Korea. PMID:25408587

  6. Bisphenol A and congenital developmental defects in humans

    International Nuclear Information System (INIS)

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

  7. Bisphenol A and congenital developmental defects in humans

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-04-15

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

  8. Maternal factors, medications, and drug exposure in congenital limb reduction defects.

    Science.gov (United States)

    Froster, U G; Baird, P A

    1993-10-01

    As part of an ongoing study on all limb reduction defects occurring among 1,213,913 consecutive live births in the province of British Columbia, Canada, during 1952-1984, cases with documented maternal drug exposure and chronic maternal diseases were analyzed separately. This population-based study was made possible through the existence of an ongoing Health Surveillance Registry, which documents all infants born with congenital, genetic, or chronically handicapping conditions in the province of British Columbia. Strict rules of confidentiality are obeyed. For this part of the analysis of limb reduction defects, cases with documented maternal illness, drug abuse, and exposure to environmental hazards early in pregnancy were analyzed as a separate group to identify specific, recurring patterns of anomalies. A total of 51 cases with possibly related maternal factors were identified. Among them were five cases with maternal epilepsy, four cases with documented maternal diabetes, and three cases with uterine anomalies. Three infants, all born in 1962, had documented thalidomide exposure. It is rarely possible to identify particular teratogenic factors or specific maternal factors as etiologically related to the pattern of limb reduction defects or a spectrum of congenital malformations. Exposure to environmental factors during pregnancy is not reliably registered and can thus only occasionally be ascertained in retrospective studies. This means that very large numbers of cases and cross-referencing to other family members are required to assess whether a potential teratogen is related to limb defects or not. PMID:8143629

  9. The role of enterocyte defects in the pathogenesis of congenital diarrheal disorders

    Directory of Open Access Journals (Sweden)

    Arend W. Overeem

    2016-01-01

    Full Text Available Congenital diarrheal disorders are rare, often fatal, diseases that are difficult to diagnose (often requiring biopsies and that manifest in the first few weeks of life as chronic diarrhea and the malabsorption of nutrients. The etiology of congenital diarrheal disorders is diverse, but several are associated with defects in the predominant intestinal epithelial cell type, enterocytes. These particular congenital diarrheal disorders (CDDENT include microvillus inclusion disease and congenital tufting enteropathy, and can feature in other diseases, such as hemophagocytic lymphohistiocytosis type 5 and trichohepatoenteric syndrome. Treatment options for most of these disorders are limited and an improved understanding of their molecular bases could help to drive the development of better therapies. Recently, mutations in genes that are involved in normal intestinal epithelial physiology have been associated with different CDDENT. Here, we review recent progress in understanding the cellular mechanisms of CDDENT. We highlight the potential of animal models and patient-specific stem-cell-based organoid cultures, as well as patient registries, to integrate basic and clinical research, with the aim of clarifying the pathogenesis of CDDENT and expediting the discovery of novel therapeutic strategies.

  10. Changing trend in congenital abdominal wall defects in Eastern region of Ireland.

    LENUS (Irish Health Repository)

    McDonnell, R

    2002-09-01

    In the past six years, there have been reports from abroad of an unexplained rise in the birth prevalence rate of the congenital abdominal wall defect gastroschisis, while rates for the macroscopically similar anomaly omphalocoele have remained stable. The Dublin EUROCAT Registry of congenital anomalies monitors trends in the birth prevalence of birth defects in the eastern region of Ireland. We analysed births of children with omphalocoele and gastroschisis born in the period 1981-2000, with comparisons of a number of demographic and obstetric variables. During the 20 year period the birth prevalence rate for omphalocoele remained stable at 2.5\\/10,000 births, whereas the rate for gastroschisis increased significantly during the 1990s from 1.0\\/10,000 in 1991 to 4.9\\/10,000 in 2000. Most of the increase occurred among mothers under 25 years of age. Omphalocoele was associated with a relatively high proportion of other major congenital anomalies. This study showed that there has been an unexpected rise in the birth prevalence of gastroschisis in the region, similar to that experienced in other countries in the same time period and likely to have common aetiological features.

  11. 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

  12. 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.)

  13. 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

  14. A mouse model of human congenital heart disease: high incidence of diverse cardiac anomalies and ventricular noncompaction produced by heterozygous Nkx2-5 homeodomain missense mutation

    Science.gov (United States)

    Chang, Eileen I.; Terada, Ryota; Ryan, Nicole J.; Briggs, Laura E.; Chowdhury, Rajib; Zárate, Miguel A.; Sugi, Yukiko; Nam, Hyun-Joo; Benson, D. Woodrow; Anderson, Robert H.; Kasahara, Hideko

    2014-01-01

    Background Heterozygous human mutations of NKX2-5 are highly penetrant and associated with varied congenital heart defects. The heterozygous knockout of murine Nkx2-5, in contrast, manifests less profound cardiac malformations, with low disease penetrance. We sought to study this apparent discrepancy between human and mouse genetics. Since missense mutations in the NKX2-5 homeodomain (DNA binding domain) are the most frequently reported type of human mutation, we replicated this genetic defect in a murine knock-in model. Methods and Results We generated a murine model in a 129/Sv genetic background by knocking-in an Nkx2-5 homeodomain missense mutation previously identified in humans. The mutation was located at homeodomain position 52Arg→Gly (R52G). All the heterozygous neonatal Nkx2-5+/R52G mice demonstrated a prominent trabecular layer in the ventricular wall, so called noncompaction, along with diverse cardiac anomalies, including atrioventricular septal defects, Ebstein’s malformation of the tricuspid valve, and perimembranous and/or muscular ventricular septal defects. In addition, P10 Nkx2-5+/R52G mice demonstrated atrial septal anomalies, with significant increase in the size of the inter-atrial communication and fossa ovalis, and decrease in the length of the flap valve compared to control Nkx2-5+/+ or Nkx2-5+/− mice. Conclusion The results of our study demonstrate that heterozygous missense mutation in the murine Nkx2-5 homeodomain (R52G) are highly penetrant, and result in pleiotropic cardiac effects. Thus, in contrast to heterozygous Nkx2-5 knockout mice, the effects of the heterozygous knock-in mimic findings in humans with heterozygous missense mutation in NKX2-5 homeodomain. PMID:25028484

  15. 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)

  16. 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.

  17. Health status of grandchildren of subjects occupationally exposed to chronic radiation. Communication 4. Congenital developmental defects

    International Nuclear Information System (INIS)

    The purpose of this study was to analyze the incidence and structure of cogenital developmental defects in the grandchildren of subjects occupationally exposed to chronic external gamma-irradiation. For 830 children only grandfather was exposed, for 259 only grandmother, and for 468 grandfather and grandmother. The mean equivalent doses for gonads by the moment of conception of future parents of the cohort examined ranged from 17.3 to 145.3 sSv. The incidence and structure of congenital developmental defects in 1557 grandchildren of occupationally exposed subjects differed from that in controls. Multifactorial analysis failed to establish the effect of grandparents' and parents' exposure on the development of diseases in the progeny. Factors other than radiation proved to be significant. 13 refs.; 1 tab

  18. 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.)

  19. 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.)

  20. Frequency of cardiac defects among children at echocardiography centre in a teaching hospital

    International Nuclear Information System (INIS)

    Objective: To assess frequency of cardiac defects among children from birth to 12 years of age on each Methodology: A cross sectional study was conducted at echocardiography centre in coronary care unit at Bahawal Victoria Hby Paediatric Transthoracic echo probe; 2-D colour Doppler, Acuson CV-70 and Niemo-30 echocardiography machines. Mothers of children with cardiac defects were interviewed at the echocardiography centre. Variables included were A- Muscular plus Vascular defects; B- Valvular defects; C-Pericardial effusion; D- Dextrocardia and E- Congestive cardiac failure. History of children for sore throat followed by joint pains; history of mothers for drug intake (antihypertensive, antipyretic, anti-emetic, hypoglycaemic) as well as chronic diseases (diabetes mellitus, hypertension, anaemia) during pregnancy were surveyed. Parity of mothers, their cousin marriages, and family socio-economic status was also inquired. The results were tabulated, analyzed and finally subjected to suitable test of significant (SR of proportion) to find out statistical significant if any. Results: It was found that out of 150 patients, 76 (50.66%) were suffering from Cardiac muscular and Vascular defects, 61 (40.66%) Valvular defects, 7 (4.66%) Pericardial effusion, 2 (1.33%) Dextrocardia and 4 (2.66%) from Congestive Cardiac Failure. According to age, 54 (36%) were from birth to 3 years of age and 51 (34%) from 10 to 12 years. There was history of Rheumatic fever among 45 (30%) children. There were 106 (70.6%) children from lower socio-economic class and 79 (52.6%) parents had history of cousin marriages. Conclusion: Frequency of cardiac defects was more in children of male sex, lower socio-economic group, from birth to three years age and children from primipara mothers in our specified locality. Rheumatic fever, cousin's marriage, and prescribed drugs intake during pregnancy (for metabolic and hormonal disorders) were other contributors to cardiac defects. (author)

  1. Cardiac magnetic resonance: Impact on diagnosis and management of patients with congenital cardiovascular disease

    International Nuclear Information System (INIS)

    Aim: To estimate the clinical impact of cardiac magnetic resonance (CMR) in patients with congenital cardiovascular disease (CCD). Materials and methods: Since 2003, 1.5 T CMR was used at our university hospital to evaluate morphology, cardiac kinetics, aortic and pulmonary flow, and vascular anatomy in patients with CCD. The present study considered a consecutive series of these patients from 2003 to 2006. A paediatric cardiologist judged our reports as expected or unexpected and, secondarily, as not reliable (level 0), describing findings already known (level 1), not changing therapy/suggested lifestyle (level 2), changing therapy/suggested lifestyle (level 3) or changing diagnosis (level 4). Results: CMR reports were judged to be expected in 187/214 (87%) and unexpected in 27/214 (13%). Less than 2% of CMRs were judged as levels 0 or 1, 66% as level 2, and 5% as level 4. During 2005-2006 the clinical impact improved toward higher impact levels (p < 0.001, chi-square test). Conclusions: In patients with CCD, more than one in 10 CMR reports were unexpected to cardiologists and over seven in 10 prompted a change of diagnosis or therapy.

  2. Pacing-induced congenital heart defects assessed by OCT (Conference Presentation)

    Science.gov (United States)

    Ford, Stephanie M.; McPheeters, Matt 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.

  3. Heat shock protein 72 expression in the right ventricle of patients undergoing congenital cardiac surgery.

    Directory of Open Access Journals (Sweden)

    Nakamura K

    2000-06-01

    Full Text Available While heat shock protein (HSP 72 is known as a stress protein, there have been no reports of HSP 72 expression in patients who have undergone surgery for congenital heart disease. Fourteen patients (7 males and 7 females who had undergone surgery for congenital heart disease were studied. The ages of the patients ranged from 2 months to 43 years old (mean 6.5 +/- 10.8 years old; median 3.0 years old. The diagnoses were Tetralogy of Fallot in seven, pulmonary atresia with ventricular septal defect (VSD in three, complex anomalies in three, and VSD in one patient. Histological study and HSP analysis using Western blots and immunostaining with anti-HSP 72 monoclonal antibody were performed for right ventricular muscle samples resected during the surgery. The histological findings showed hypertrophic changes of ventricular cardiomyocytes in all samples studied. Western blots detected HSP 72 expression of various degrees in all specimens. Immunostaining using monoclonal antibody against HSP 72 showed that the protein was present in the nuclei and cytoplasm of cardiomyocytes. In conclusion, although it is difficult to determine the cause of the "stress" that triggers HSP 72 expression in cardiomyocytes, low O2 saturation and pressure overload might act as a "stress", and the only common factor that induced HSP 72 in every sample was hypertrophy.

  4. An overview of cardiac morphogenesis.

    Science.gov (United States)

    Schleich, Jean-Marc; Abdulla, Tariq; Summers, Ron; Houyel, Lucile

    2013-11-01

    Accurate knowledge of normal cardiac development is essential for properly understanding the morphogenesis of congenital cardiac malformations that represent the most common congenital anomaly in newborns. The heart is the first organ to function during embryonic development and is fully formed at 8 weeks of gestation. Recent studies stemming from molecular genetics have allowed specification of the role of cellular precursors in the field of heart development. In this article we review the different steps of heart development, focusing on the processes of alignment and septation. We also show, as often as possible, the links between abnormalities of cardiac development and the main congenital heart defects. The development of animal models has permitted the unraveling of many mechanisms that potentially lead to cardiac malformations. A next step towards a better knowledge of cardiac development could be multiscale cardiac modelling. PMID:24138816

  5. Case report of GNAS epigenetic defect revealed by a congenital hypothyroidism.

    Science.gov (United States)

    Romanet, Pauline; Osei, Lindsay; Netchine, Irène; Pertuit, Morgane; Enjalbert, Alain; Reynaud, Rachel; Barlier, Anne

    2015-04-01

    Pseudohypoparathyroidism (PHP) is a group of disorders characterized by end-organ resistance to the parathyroid hormone (PTH). PHP type 1A includes multihormone resistance syndrome, Albright's hereditary osteodystrophy, and obesity and is caused by mutations in GNAS exon 1 through 13. PHP type 1B (PHP1B), caused by epigenetic changes in the GNAS locus, was initially described as an isolated resistance to PTH. Epigenetic changes in GNAS have also been reported in patients who display mild Albright's hereditary osteodystrophy or mild thyroid-stimulating hormone (TSH) resistance without mutation of GNAS. Here we report a case of PHP caused by epigenetic changes in GNAS in a patient with congenital hypothyroidism. The patient was referred for a positive newborn screening for hypothyroidism (TSH 50 mIU/L). She exhibited severe clinical features of congenital hypothyroidism. The thyroid was in place, and etiologic explorations were negative. TSH was normalized under L-thyroxin, and the symptoms disappeared, except for a macroglossia. In childhood, PHP was suspected in addition to elevated PTH, obesity, brachydactyly, and a rounded face. Sequencing, methylation analysis, and large deletion research were performed in GNAS. No genetic mutations were found. Methylation analysis revealed a broad epigenetic defect without deletion in GNAS consistent with sporadic PHP1B. The multilocus methylation analysis were negative. This finding expands the known onsets of PHP1B and emphasizes the need for a new PHP classification system. This case report has important consequences for the etiologic diagnosis of congenital hypothyroidism because it adds a new cause of the disease. PMID:25802348

  6. Air Pollution and the Risk of Cardiac Defects: A Population-Based Case-Control Study.

    Science.gov (United States)

    Hwang, Bing-Fang; Lee, Yungling Leo; Jaakkola, Jouni J K

    2015-11-01

    Previous epidemiologic studies have assessed the role of the exposure to ambient air pollution in the development of cardiac birth defects, but they have provided somewhat inconsistent results. To assess the associations between exposure to ambient air pollutants and the risk of cardiac defects, a population-based case-control study was conducted using 1087 cases of cardiac defects and a random sample of 10,870 controls from 1,533,748 Taiwanese newborns in 2001 to 2007.Logistic regression was performed to calculate odds ratios for 10 ppb increases in O3 and 10 μg/m increases in PM10. In addition, we compared the risk of cardiac defects in 4 categories-high exposure (>75th percentile); medium exposure (75th to 50th percentile); low exposure (patent ductus arteriosus (PDA) were associated with 10 ppb increases in O3 exposure during the first 3 gestational months among term and preterm babies. In comparison between high PM10 exposure and reference category, there were statistically significant elevations in the effect estimates of ASD for all and terms births. In addition, there was a negative or weak association between SO2, NO2, CO, and cardiac defects.The study proved that exposure to outdoor air O3 and PM10 during the first trimester of gestation may increase the risk of VSD, ASD, and PDA. PMID:26554783

  7. Congenital left ventricular wall abnormalities in adults detected by gated cardiac multidetector computed tomography: Clefts, aneurysms, diverticula and terminology problems

    International Nuclear Information System (INIS)

    Objectives: Our aim was to evaluate congenital left ventricular wall abnormalities (clefts, aneurysms and diverticula), describe and illustrate imaging features, discuss terminology problems and determine their prevalence detected by cardiac CT in a single center. Materials and methods: Coronary CT angiography images of 2093 adult patients were evaluated retrospectively in order to determine congenital left ventricular wall abnormalities. Results: The incidence of left ventricular clefts (LVC) was 6.7% (141 patients) and statistically significant difference was not detected between the sexes regarding LVC (P = 0.5). LVCs were single in 65.2% and multiple in 34.8% of patients. They were located at the basal to mid inferoseptal segment of the left ventricle in 55.4%, the basal to mid anteroseptal segment in 24.1%, basal to mid inferior segment in 17% and septal–apical septal segment in 3.5% of cases. The cleft length ranged from 5 to 22 mm (mean 10.5 mm) and they had a narrow connection with the left ventricle (mean 2.5 mm). They were contractile with the left ventricle and obliterated during systole. Congenital left ventricular septal aneurysm that was located just under the aortic valve was detected in two patients (0.1%). No case of congenital left ventricular diverticulum was detected. Conclusion: Cardiac CT allows us to recognize congenital left ventricular wall abnormalities which have been previously overlooked in adults. LVC is a congenital structural variant of the myocardium, is seen more frequently than previously reported and should be differentiated from aneurysm and diverticulum for possible catastrophic complications of the latter two.

  8. 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

  9. Birth prevalence for congenital limb defects in the northern Netherlands : a 30-year population-based study

    NARCIS (Netherlands)

    Vasluian, Ecaterina; van der Sluis, Corry K; van Essen, Anthonie J; Bergman, Jorieke E H; Dijkstra, Pieter U; Reinders-Messelink, Heleen A; de Walle, Hermien E K

    2013-01-01

    Background: Reported birth prevalences of congenital limb defects (CLD) vary between countries: from 13/10,000 in Finland for the period 1964-1977 to 30.4/10,000 births in Scotland from 1964-1968. Epidemiological studies permit the timely detection of trends in CLD and of associations with other bir

  10. Cemented total hip arthroplasty with impacted morcellized bone-grafts to restore acetabular bone defects in congenital hip dysplasia.

    NARCIS (Netherlands)

    Bolder, S.B.T.; Melenhorst, J.; Gardeniers, J.W.M.; Slooff, T.J.J.H.; Veth, R.P.H.; Schreurs, B.W.

    2001-01-01

    We evaluated the results of 27 acetabular reconstructions in 21 patients with secondary osteoarthritis resulting from congenital dysplasia of the hip in which the acetabular bone defects were restored with impacted morcellized bone-grafts in combination with a cemented cup. At an average follow-up o

  11. Two cases of congenital defects within transverse processes of lumbar spine; Dwa przypadki wad wrodzonych wyrostkow poprzecznych ledzwiowego odcinka kregoslupa

    Energy Technology Data Exchange (ETDEWEB)

    Malawski, S.; Sokolski, B. [Klinika Ortopedii, Centrum Medyczne Ksztalcenia Podyplomowego, Otwock (Poland)

    1993-12-31

    Two cases of congenital defects of transverse processes of lumbar spine causing lumbalgia are described. The first one was produced by direct contact of the elongated processes with subsequent pseudoarthrosis. Hypertrophied processes caused stenosis around intervertebral foramen and irritated posterior neural branch in the second case. Surgical resection of the hypertrophied transverse processes has brought the cure. (author). 4 refs, 6 figs.

  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 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

  15. 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...

  16. Congenital keratoglobus with multiple cardiac anomalies: a case presentation and literature review.

    Science.gov (United States)

    Ozer, Pinar A; Yalniz-Akkaya, Zuleyha

    2015-07-01

    Keratoglobus is a rare condition of bilateral corneal ectasia, which results in high myopia, irregular astigmatism, scarring, and rarely spontaneous globe rupture. Globoid protrusion of a clear, diffusely thin cornea is the pathology. The congenital form has been associated with blue sclera in which there is a systemic connective tissue disorder with abnormal collagen synthesis like Ehlers-Danlos syndrome, Marfan syndrome, and osteogenesis imperfecta. Some concomitant abnormalities reported with kertoglobus include joint hypermobility, dental and skeletal abnormalities, osteal fragility, and deafness. Acquired forms have been reported to be associated with vernal keratoconjunctivitis and thyroid ophthalmopathy. We report the case of a 16-year-old boy with keratoglobus who presented with a history of photophobia and a low vision in both eyes since birth. He has been followed up by our pediatric cardiology department due to multiple cardiac anomalies. He had hypermobility of large joints, easy bruising, thin and hyperextensible skin with visible veins, which were also described in his elder brother. We aimed to discuss the etiology and the association of keratoglobus with some systemic abnormalities caused by collogen tissue disturbance, and make a brief review about the recent literature concerning the management of keratoglobus patients. PMID:24409942

  17. Defects in cardiac function precede morphological abnormalities in fish embryos exposed to polycyclic aromatic hydrocarbons

    International Nuclear Information System (INIS)

    Fish embryos exposed to complex mixtures of polycyclic aromatic hydrocarbons (PAHs) from petrogenic sources show a characteristic suite of abnormalities, including cardiac dysfunction, edema, spinal curvature, and reduction in the size of the jaw and other craniofacial structures. To elucidate the toxic mechanisms underlying these different defects, we exposed zebrafish (Danio rerio) embryos to seven non-alkylated PAHs, including five two- to four-ring compounds that are abundant in crude oil and two compounds less abundant in oil but informative for structure-activity relationships. We also analyzed two PAH mixtures that approximate the composition of crude oil at different stages of weathering. Exposure to the three-ring PAHs dibenzothiophene and phenanthrene alone was sufficient to induce the characteristic suite of defects, as was genetic ablation of cardiac function using a cardiac troponin T antisense morpholino oligonucleotide. The primary etiology of defects induced by dibenzothiophene or phenanthrene appears to be direct effects on cardiac conduction, which have secondary consequences for late stages of cardiac morphogenesis, kidney development, neural tube structure, and formation of the craniofacial skeleton. The relative toxicity of the different mixtures was directly proportional to the amount of phenanthrene, or the dibenzothiophene-phenanthrene total in the mixture. Pyrene, a four-ring PAH, induced a different syndrome of anemia, peripheral vascular defects, and neuronal cell death, similar to the effects previously described for potent aryl hydrocarbon receptor ligands. Therefore, different PAH compounds have distinct and specific effects on fish at early life history stages

  18. Neural and Synaptic Defects in slytherin a Zebrafish Model for Human Congenital Disorders of Glycosylation

    Energy Technology Data Exchange (ETDEWEB)

    Y Song; J Willer; P Scherer; J Panzer; A Kugath; E Skordalakes; R Gregg; G Willer; R Balice-Gordon

    2011-12-31

    Congenital disorder of glycosylation type IIc (CDG IIc) is characterized by mental retardation, slowed growth and severe immunodeficiency, attributed to the lack of fucosylated glycoproteins. While impaired Notch signaling has been implicated in some aspects of CDG IIc pathogenesis, the molecular and cellular mechanisms remain poorly understood. We have identified a zebrafish mutant slytherin (srn), which harbors a missense point mutation in GDP-mannose 4,6 dehydratase (GMDS), the rate-limiting enzyme in protein fucosylation, including that of Notch. Here we report that some of the mechanisms underlying the neural phenotypes in srn and in CGD IIc are Notch-dependent, while others are Notch-independent. We show, for the first time in a vertebrate in vivo, that defects in protein fucosylation leads to defects in neuronal differentiation, maintenance, axon branching, and synapse formation. Srn is thus a useful and important vertebrate model for human CDG IIc that has provided new insights into the neural phenotypes that are hallmarks of the human disorder and has also highlighted the role of protein fucosylation in neural development.

  19. Neural and synaptic defects in slytherin, a zebrafish model for human congenital disorders of glycosylation.

    Directory of Open Access Journals (Sweden)

    Yuanquan Song

    Full Text Available Congenital disorder of glycosylation type IIc (CDG IIc is characterized by mental retardation, slowed growth and severe immunodeficiency, attributed to the lack of fucosylated glycoproteins. While impaired Notch signaling has been implicated in some aspects of CDG IIc pathogenesis, the molecular and cellular mechanisms remain poorly understood. We have identified a zebrafish mutant slytherin (srn, which harbors a missense point mutation in GDP-mannose 4,6 dehydratase (GMDS, the rate-limiting enzyme in protein fucosylation, including that of Notch. Here we report that some of the mechanisms underlying the neural phenotypes in srn and in CGD IIc are Notch-dependent, while others are Notch-independent. We show, for the first time in a vertebrate in vivo, that defects in protein fucosylation leads to defects in neuronal differentiation, maintenance, axon branching, and synapse formation. Srn is thus a useful and important vertebrate model for human CDG IIc that has provided new insights into the neural phenotypes that are hallmarks of the human disorder and has also highlighted the role of protein fucosylation in neural development.

  20. A partial defect in technetium-99m pyrophosphate image suggesting cardiac rupture following acute myocardial infarction

    International Nuclear Information System (INIS)

    We present the case of a 70-year-old woman with acute myocardial infarction who died of cardiac rupture on the 2nd hospital day. Dual isotope single photon emission tomography (SPET) using thallium-201 chloride and technetium-99m pyrophosphate (PYP) perforemd on the 2nd hospital day showed a large perfusion defect in the anteroseptal wall on 201Tl image and a increased accumulation on 99mTc-PYP image in the anterior area consistent with a partial defect. Autopsy performed 1 h after death revealed a tear in the left ventricular anterior wall consistent with the defect on the 99mTc-PYP image. We propose that the finding of a partial defect in 99mTc-PYP is an interesting finding which may be associated with cardiac rupture following acute myocardial infarction. (orig.)

  1. Routine preoperative cardiac catheterization necessary before repair of secundum and sinus venosus atrial septal defects

    International Nuclear Information System (INIS)

    Between January 1976 and July 1983, 217 patients with atrial septal defect underwent surgical repair at Children's Hospital. Thirty with a primum atrial septal defect and 26 who underwent cardiac catheterization elsewhere before being seen were excluded from analysis. Of the 161 remaining patients, 52 (31%) underwent preoperative cardiac catheterization, 38 because the physical examination was considered atypical for a secundum atrial septal defect and 14 because of a preexisting routine indication. One hundred nine (69%) underwent surgery without catheterization, with the attending cardiologist relying on clinical examination alone in 5, additional technetium radionuclide angiocardiography in 5, M-mode echocardiography in 13 and two-dimensional echocardiography in 43; both M-mode echocardiography and radionuclide angiography were performed in 24 and two-dimensional echocardiography and radionuclide angiography in 19. Since 1976, there has been a trend toward a reduction in the use of catheterization and use of one rather than two noninvasive or semiinvasive techniques for the detection of atrial defects. Of the 52 patients who underwent catheterization, the correct anatomic diagnosis was made before catheterization in 47 (90%). Two patients with a sinus venosus defect and one each with a sinus venosus defect plus partial anomalous pulmonary venous connection, partial anomalous pulmonary venous connection without an atrial septal defect and a sinoseptal defect were missed. Of 109 patients without catheterization, a correct morphologic diagnosis was made before surgery in 92 (84%). Nine patients with a sinus venosus defect, three with sinus venous defect and partial anomolous pulmonary venous connection, four with partial anomalous pulmonary venous return without an atrial septal defect and one with a secundum defect were incorrectly diagnosed.(ABSTRACT TRUNCATED AT 250 WORDS)

  2. Evaluation of prenatal diagnosis of congenital defects by screening ultrasound, in Cali, Colombia.

    Directory of Open Access Journals (Sweden)

    Wilmar Saldarriaga-Gil

    2014-04-01

    Full Text Available Introduction The study aim was to determine the frequency of prenatal ultrasound diagnosis of congenital anomalies in Newborns (NB with birth defects hospitalized in two Neonatal Intensive Care Units (NICU of Cali (Colombia and to identify socio-demographic factors associated with lack of such diagnosis. Patients and methods It was an observational cross-sectional study. NB with congenital defects diagnosable by prenatal ultrasound (CDDPU, who were hospitalized in two neonatal intensive care units (NICU, were included in this study. A format of data collection for mothers, about prenatal ultra-sonographies, socio-demographic data and information on prenatal and definitive diagnosis of their conditions was applied. Multiple logistic and Cox regressions analyses were done. Results 173 NB were included, 42.8% of cases had no prenatal diagnosis of CDDPU; among them, 59.5% had no prenatal ultrasound (PNUS. Lack of PNUS was associated with maternal age, 25 to 34 years (Odds Ratio [OR]: 4.41 and 35 to 47 years (OR: 5.24, with low levels of maternal education (OR: 8.70 and with only a PNUS compared to having two or more PNUS (OR: 4.00. Mothers without health insurance tend to be delayed twice the time to access the first PNUS in comparison to mothers with payment health insurance (Hazard Ratio [HR]: 0.51. Among mothers who had PNUS, screening sensitivity of CDDPU after the 19thgestational week was 79.2%. Conclusions The frequency of prenatal diagnosis is low and is explained by lack of PNUS, or by lack of diagnostic in the PNUS. An association between lack of PNUS and late age pregnancy and low level of maternal education was found. In addition, uninsured mothers tend to delay twice in accessing to the first PNUS in comparison to mothers with health insurance. It is necessary to establish national policies which ensure access to appropriate, timely and good quality prenatal care for all pregnant women in Colombia.                        

  3. Investigating alcohol-induced congenital heart defects using optical coherence tomography (Conference Presentation)

    Science.gov (United States)

    Gu, Shi; Peterson, Lindsy M.; Ma, Pei; Karunamuni, Ganga; Watanabe, Michiko; Jenkins, Michael W.; Rollins, Andrew M.

    2016-03-01

    Fetal alcohol syndrome commonly results in neurological and craniofacial defects, additionally, as high as 54% of live-born children with this syndrome also possess cardiac abnormalities. We have previously shown that CNCC-ablated embryos exhibit similar structural and functional phenotypes as ethanol-exposed embryos. Here, we present progress on two fronts toward understanding the association between CNCC dysfunction and FAS-related CHDs. We have developed a technique for measuring the thickness of the cardiac cushions throughout the heart. These values were then mapped onto a surface mesh of the myocardial wall for 3-D visualization. The cushions were observed to be significantly reduced in the outflow tract of CNCC-ablated embryos. We also observed a correlation between abnormal pulsed Doppler waveforms and increased separation of the atrioventricular inferior and superior cushions. This correlation between function and structure will enable rapid phenotyping of perturbed embryos. Finally, we present our preliminary results using methyl donors to rescue ethanol-exposed embryonic CHDs. Betaine was administered along with the ethanol injection to embryos at 21 hours of development. The embryos were then analyzed at day 8 for survival and heart morphology. The administration of betaine resulted in a significant increase in survival and normalization of atrioventricular valve leaflet volume and interventricular septum thickness.

  4. An autosomal recessive syndrome of cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE).

    OpenAIRE

    Giannotti, A; Digilio, M C; Mingarelli, R; Dallapiccola, B.

    1995-01-01

    We report a brother and sister affected by a constellation of malformations, including cleft palate, cardiac defect, genital anomalies, and ectrodactyly (CCGE). A similar association has been reported previously by Richieri-Costa and Orquizas in a male patient born to consanguineous parents. An autosomal recessive pattern of inheritance is proposed for this syndrome.

  5. Estimation of children's radiation dose from cardiac catheterisations, performed for the diagnosis or the treatment of a congenital heart disease using TLD dosimetry and Monte Carlo simulation

    International Nuclear Information System (INIS)

    Entrance surface radiation doses were measured with thermoluminescent dosimeters for 98 children who were referred to a cardiology department for the diagnosis or the treatment of a congenital heart disease. Additionally, all the radiographic parameters were recorded and Monte Carlo simulations were performed for the estimation of entrance surface dose to effective dose conversion factors, in order to further calculate the effective dose for each child. For diagnostic catheterisations the values ranged from 0.16 to 14.44 mSv, with average 3.71 mSv, and for therapeutic catheterisations the values ranged from 0.38 to 25.01 mSv, with average value 5 mSv. Effective doses were estimated for diagnostic procedures and interventional procedures performed for the treatment of five different heart diseases: (a) atrial septal defect (ASD), (b) ventricular septal defect (VSD), (c) patent ductus arteriosus (PDA), (d) aorta coarctation and (e) pulmonary stenosis. The high levels of radiation exposure are, however, balanced with the advantages of cardiac catheterisations such as the avoidance of surgical closure and the necessity of shorter or even no hospitalisation.

  6. Carbon dioxide pneumothorax occurring during laparoscopy-assisted gastrectomy due to a congenital diaphragmatic defect: a case report.

    Science.gov (United States)

    Park, Hye-Jin; Kim, Duk-Kyung; Yang, Mi-Kyung; Seo, Jeong-Eun; Kwon, Ji-Hye

    2016-02-01

    During laparoscopic surgery, carbon dioxide (CO2) pneumothorax can develop due to a congenital defect in the diaphragm. We present a case of a spontaneous massive left-sided pneumothorax that occurred during laparoscopy-assisted gastrectomy, because of an escape of intraperitoneal CO2 gas, under pressure, into the pleural cavity through a congenital defect in the esophageal hiatus of the left diaphragm. This was confirmed on intraoperative chest radiography and laparoscopic inspection. This CO2 pneumothorax caused tolerable hemodynamic and respiratory consequences, and was rapidly reversible after release of the pneumoperitoneum. Thus, a conservative approach was adopted, and the remainder of the surgery was completed, laparoscopically. Due to the high solubility of CO2 gas and the extra-pulmonary mechanism, CO2 pneumothorax with otherwise hemodynamically stable conditions can be managed by conservative modalities, avoiding unnecessary chest tube insertion or conversion to an open procedure. PMID:26885310

  7. Comparison of simultaneous and sequential SPECT imaging for discrimination tasks in assessment of cardiac defects

    International Nuclear Information System (INIS)

    Simultaneous rest perfusion/fatty-acid metabolism studies have the potential to replace sequential rest/stress perfusion studies for the assessment of cardiac function. Simultaneous acquisition has the benefits of increased signal and lack of need for patient stress, but is complicated by cross-talk between the two radionuclide signals. We consider a simultaneous rest 99mTc-sestamibi/123I-BMIPP imaging protocol in place of the commonly used sequential rest/stress 99mTc-sestamibi protocol. The theoretical precision with which the severity of a cardiac defect and the transmural extent of infarct can be measured is computed for simultaneous and sequential SPECT imaging, and their performance is compared for discriminating (1) degrees of defect severity and (2) sub-endocardial from transmural defects. We consider cardiac infarcts for which reduced perfusion and metabolism are observed. From an information perspective, simultaneous imaging is found to yield comparable or improved performance compared with sequential imaging for discriminating both severity of defect and transmural extent of infarct, for three defects of differing location and size.

  8. Comparison of simultaneous and sequential SPECT imaging for discrimination tasks in assessment of cardiac defects

    Science.gov (United States)

    Trott, CM; Ouyang, J; El Fakhri, G

    2011-01-01

    Simultaneous rest perfusion/fatty-acid metabolism studies have the potential to replace sequential rest/stress perfusion studies for the assessment of cardiac function. Simultaneous acquisition has the benefits of increased signal and lack of need for patient stress, but is complicated by cross-talk between the two radionuclide signals. We consider a simultaneous rest 99mTc-sestamibi/123I-BMIPP imaging protocol in place of the commonly-used sequential rest/stress 99mTc-sestamibi protocol. The theoretical precision with which the severity of a cardiac defect and the transmural extent of infarct can be measured is computed for simultaneous and sequential SPECT imaging, and their performance is compared for discriminating (1) degrees of defect severity, and (2) sub-endocardial from transmural defects. We consider cardiac infarcts, for which reduced perfusion and metabolism are observed. From an information perspective, simultaneous imaging is found to yield comparable or improved performance compared with sequential imaging for discriminating both severity of defect and transmural extent of infarct, for three defects of differing location and size. PMID:21048290

  9. Comparison of simultaneous and sequential SPECT imaging for discrimination tasks in assessment of cardiac defects

    Energy Technology Data Exchange (ETDEWEB)

    Trott, C M; Ouyang, J; El Fakhri, G, E-mail: ctrott@pet.mgh.harvard.ed [Division of Nuclear Medicine and Molecular Imaging, Department of Radiology, Massachusetts General Hospital and Harvard Medical School, 55 Fruit St, Boston, MA 02114 (United States)

    2010-11-21

    Simultaneous rest perfusion/fatty-acid metabolism studies have the potential to replace sequential rest/stress perfusion studies for the assessment of cardiac function. Simultaneous acquisition has the benefits of increased signal and lack of need for patient stress, but is complicated by cross-talk between the two radionuclide signals. We consider a simultaneous rest {sup 99m}Tc-sestamibi/{sup 123}I-BMIPP imaging protocol in place of the commonly used sequential rest/stress {sup 99m}Tc-sestamibi protocol. The theoretical precision with which the severity of a cardiac defect and the transmural extent of infarct can be measured is computed for simultaneous and sequential SPECT imaging, and their performance is compared for discriminating (1) degrees of defect severity and (2) sub-endocardial from transmural defects. We consider cardiac infarcts for which reduced perfusion and metabolism are observed. From an information perspective, simultaneous imaging is found to yield comparable or improved performance compared with sequential imaging for discriminating both severity of defect and transmural extent of infarct, for three defects of differing location and size.

  10. The experience of black parents/caretakers with the births and care of a child with profound congenital defects

    Directory of Open Access Journals (Sweden)

    M.S. Mabaso

    1990-09-01

    Full Text Available The reaction of Black families to the birth and care of a baby with profound congenital defects was researched using twenty case studies. It was found that the families went through stages of the grieving process, that they shifted from the Western/Christian viewpoint to the traditional viewpoint in their struggle to cope and that they find the existing services grossly inadequate.

  11. Congenital hydrocephalus in two pregnancies following the birth of a child with a neural tube defect: aetiology and management.

    OpenAIRE

    Robertson, R D; Sarti, D A; Brown, W J; Crandall, B. F.

    1981-01-01

    A family is described with congenital hydrocephalus occurring in two pregnancies following the birth of a child with a neural tube defect (NTD). Prenatal diagnosis of hydrocephalus at mid-gestation was achieved by ultrasonography. The increased frequency of hydrocephalus among sibs of probands with a NTD and vice versa suggests that, following the birth of a child with either malformations, subsequent pregnancies should be monitored at mid-gestation by amniotic fluid AFP and serial ultrasound...

  12. Care of the Family of an Infant With a Congenital Heart Defect During the NICU Hospitalization.

    Science.gov (United States)

    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

  13. Effects of the Trendelenburg Position and Positive End-Expiratory Pressure on the Internal Jugular Vein Cross-Sectional Area in Children With Simple Congenital Heart Defects

    Science.gov (United States)

    Kim, Hee Yeong; Choi, Jae Moon; Lee, Yong-Hun; Lee, Sukyung; Yoo, Hwanhee; Gwak, Mijeung

    2016-01-01

    Abstract Catheterization of the internal jugular vein (IJV) remains difficult in pediatric populations. Increasing the cross-sectional area (CSA) of the IJV facilitates cannulation and decreases complications. We aimed to evaluate the Trendelenburg position and the levels of positive end-expiratory pressure (PEEP) at which the maximum increase of CSA of the IJV occurred in children undergoing cardiac surgery. In this prospective study, the CSA of the right IJV was assessed using ultrasound in 47 anesthetized pediatric patients with simple congenital heart defects. The baseline CSA was obtained in response to a supine position with no PEEP and compared with 5 different randomly ordered maneuvers, that is, a PEEP of 5 and 10 cm H2O in a supine position and of 0, 5, and 10 cm H2O in a 10° Trendelenburg position. Hemodynamic variables, including blood pressure and heart rate, maximum and minimum diameters, and CSA, were measured. All maneuvers increased the CSA of the right IJV with respect to the control condition. In the supine position, the CSA was increased by 9.4% with a PEEP of 5 and by 19.5% with a PEEP of 10 cm H2O. The Trendelenburg tilt alone increased the CSA by 19.0%, and combining the 10° Trendelenburg with a 10 cm H2O PEEP resulted in the largest IJV CSA increase (33.3%) compared with the supine position with no PEEP. Meanwhile, vital signs remained relatively steady during the experiment. The application of the Trendelenburg position and a 10 cm H2O PEEP thus significantly increases the CSA of the right IJV, perhaps improving the chances of successful cannulation in pediatric patients with simple congenital heart defects. PMID:27149455

  14. Radiation dosage accepted by children during interventional treatment for congenital ventricular septal defect

    International Nuclear Information System (INIS)

    Objective: To estimate the radiation dose to which children are exposed during cardiac catheterizations for the treatment of ventricular septal defect, to analyze the factors affecting the radiation dose and to find out the measures to decrease the radiation dose. Methods: From December 2008 to October 2009, transcatheter closure was performed in 30 children with perimembranous ventricular septal defect. During the procedure the radiation doses to the children were estimated by using thermoluminescent dosimetry (TLD). The TLD chips were calibrated before use and were attached in four measuring points,representing the radiation dose of the crystalline lens, the thyroid, the exposure field and the gonad. Results: The mean entrance dose of the crystalline lens,the thyroid,the exposure field and the gonad was (65.7 ± 48.8)μGy, (2618.2 ± 862.6)μGy, (3376.5 ± 838.4)μGy and (57.0 ± 59.4)μGy, respectively. The mean fluoroscopic time used for interventional procedure was (7.2 ± 3.0) minutes, and the mean angiographic exposures time was (6.1 ± 1.8) seconds. Conclusion: Transcatheter closure therapy for perimembranous ventricular septal defect is safe and effective. The exposure field is the region receiving the largest radiation dose, in the next place was the thyroid.Some more effective protections, such as smaller exposure field, strengthened protection of thyroid region, etc. should be taken in order to decrease the X-ray radiation dosage accepted by children as they are more sensitive to radiation exposure. (authors)

  15. [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

  16. Estimation of radiation dose and risk to children undergoing cardiac catheterization for the treatment of a congenital heart disease using Monte Carlo simulations

    Energy Technology Data Exchange (ETDEWEB)

    Yakoumakis, Emmanuel; Kostopoulou, Helen; Dimitriadis, Anastastios; Georgiou, Evaggelos [University of Athens, Medical Physics Department, Medical School, Athens (Greece); Makri, Triantafilia [' Agia Sofia' Hospital, Medical Physics Unit, Athens (Greece); Tsalafoutas, Ioannis [Anticancer-Oncology Hospital of Athens ' Agios Savvas' , Medical Physics Department, Athens (Greece)

    2013-03-15

    Children diagnosed with congenital heart disease often undergo cardiac catheterization for their treatment, which involves the use of ionizing radiation and therefore a risk of radiation-induced cancer. The purpose of this study was to calculate the effective and equivalent organ doses (H{sub T}) in those children and estimate the risk of exposure-induced death. Fifty-three children were divided into three groups: atrial septal defect (ASD), ventricular septal defect (VSD) and patent ductus arteriosus (PDA). In all procedures, the exposure conditions and the dose-area product meters readings were recorded for each individual acquisition. Monte Carlo simulations were run using the PCXMC 2.0 code and mathematical phantoms simulating a child's anatomy. The H{sub T} values to all irradiated organs and the resulting E and risk of exposure-induced death values were calculated. The average dose-area product values were, respectively, 40 {+-} 12 Gy.cm{sup 2} for the ASD, 17.5 {+-} 0.7 Gy.cm{sup 2} for the VSD and 9.5 {+-} 1 Gy.cm{sup 2} for the PDA group. The average E values were 40 {+-} 12, 22 {+-} 2.5 and 17 {+-} 3.6 mSv for ASD, VSD and PDA groups, respectively. The respective estimated risk of exposure-induced death values per procedure were 0.109, 0.106 and 0.067%. Cardiac catheterizations in children involve a considerable risk for radiation-induced cancer that has to be further reduced. (orig.)

  17. Estimation of radiation dose and risk to children undergoing cardiac catheterization for the treatment of a congenital heart disease using Monte Carlo simulations

    International Nuclear Information System (INIS)

    Children diagnosed with congenital heart disease often undergo cardiac catheterization for their treatment, which involves the use of ionizing radiation and therefore a risk of radiation-induced cancer. The purpose of this study was to calculate the effective and equivalent organ doses (HT) in those children and estimate the risk of exposure-induced death. Fifty-three children were divided into three groups: atrial septal defect (ASD), ventricular septal defect (VSD) and patent ductus arteriosus (PDA). In all procedures, the exposure conditions and the dose-area product meters readings were recorded for each individual acquisition. Monte Carlo simulations were run using the PCXMC 2.0 code and mathematical phantoms simulating a child's anatomy. The HT values to all irradiated organs and the resulting E and risk of exposure-induced death values were calculated. The average dose-area product values were, respectively, 40 ± 12 Gy.cm2 for the ASD, 17.5 ± 0.7 Gy.cm2 for the VSD and 9.5 ± 1 Gy.cm2 for the PDA group. The average E values were 40 ± 12, 22 ± 2.5 and 17 ± 3.6 mSv for ASD, VSD and PDA groups, respectively. The respective estimated risk of exposure-induced death values per procedure were 0.109, 0.106 and 0.067%. Cardiac catheterizations in children involve a considerable risk for radiation-induced cancer that has to be further reduced. (orig.)

  18. Prevalence of Congenital Heart Defects in Children with Down’s Syndrome in Imam Khomeini Hospital, Tehran

    Directory of Open Access Journals (Sweden)

    M Ghasemi

    2007-05-01

    Full Text Available Background: The aim of this study was to investigate the prevalence of congenital heart defects in children with Downs syndrome in Imam Khomeini Hospital in a period of 2 years (2001-2002. Methods: Based on their medical files and echocardiographies, 32 patients with Down’s syndrome were evaluated during study. Findings: The cytogenetic analysis in these patients (19 males and 13 females revealed that 29 cases (90.7% had trisomy 21, 2 cases (6.2% had translocation and only one case (3.1% was mosaic. Family history for heart diseases was positive in 2 patients (6.2%. The findings of echocardiography were as follow: endocardial cushion defect (ECD in 16 cases (50%, ventricular septal defect (VSD in 7 cases (21.8%, atrial septal defect (ASD in 6 cases (18.7%, tetralogy of Fallot (TOF in 2 cases (6.2%, patent ductus arteriousus (PDA in one case (3.1%. Conclusions: The diagnosis of congenital heart defects in children with Down’s syndrome is crucial because treating them in due course results in dramatical decrease in the mortality and morbidity rates of these patients.

  19. Ambient Air Pollution and Traffic Exposures and Congenital Heart Defects in the San Joaquin Valley of California

    Science.gov (United States)

    Padula, Amy M.; Tager, Ira B.; Carmichael, Suzan L.; Hammond, S. Katharine; Yang, Wei; Lurmann, Frederick; Shaw, Gary M.

    2013-01-01

    Background Congenital anomalies are a leading cause of infant morbidity and mortality. Studies suggest associations between environmental contaminants and some anomalies, although evidence is limited. Methods We used data from the California Center of the National Birth Defects Prevention Study and the Children's Health and Air Pollution Study to estimate the odds of 27 congenital heart defects with respect to quartiles of 7 ambient air pollutant and traffic exposures in California during the first two months of pregnancy, 1997–2006 (N=813 cases and N=828 controls). Results Particulate matter defects (aOR3rd Quartile=2.1; 95% CI: 1.1, 3.9) after adjusting for maternal race-ethnicity, education and multivitamin use. PM2.5 was associated with transposition of the great arteries (aOR3rd Quartile=2.6; 95% CI: 1.1, 6.5) and inversely associated with perimembranous ventricular septal defects (aOR4th Quartile=0.5; 95% CI: 0.2, 0.9). Secundum atrial septal defects were inversely associated with carbon monoxide (aOR4th Quartile=0.4; 95% CI: 0.2, 0.8) and PM2.5 (aOR4th Quartile=0.5; 95% CI: 0.3, 0.8). Traffic density was associated with muscular ventricular septal defects (aOR4th Quartile=3.0, 95% CI: 1.2, 7.8) and perimembranous ventricular septal defects (aOR3rd Quartile =2.4; 95% CI: 1.3, 4.6), and inversely associated with transposition of the great arteries (aOR4th Quartile=0.3; 95% CI: 0.1, 0.8). Conclusions PM10 and traffic density may contribute to the occurrence of pulmonary valve stenosis and ventricular septal defects, respectively. The results were mixed for other pollutants and had little consistency with previous studies. PMID:23772934

  20. A population-based study relevant to seasonal variations in causes of death in children undergoing surgery for congenital cardiac malformations

    OpenAIRE

    Eskedal, Leif T.; Hagemo, Petter S.; Eskild, Anne; Frøslie, Kathrine F; Seiler, Stephen; Thaulow, Erik

    2007-01-01

    Aims: Our objectives were, first, to study seasonal distribution of perioperative deaths within 30 days after surgery, and late death, in children undergoing surgery for congenitally malformed hearts, and second, to study the causes of late death. Methods: We analysed a retrospective cohort of 1,753 children with congenital cardiac malformations born and undergoing surgery in the period from 1990 through 2002 with a special focus on the causes of late death. The data was obtained from the...

  1. 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.)

  2. Children diagnosed with congenital cardiac malformations at the national university departments of pediatric cardiology: positive predictive values of data in the Danish National Patient Registry

    Directory of Open Access Journals (Sweden)

    Peter Agergaard

    2011-02-01

    Full Text Available Peter Agergaard1, Anders Hebert2, Jesper Bjerre3, Karina Meden Sørensen4, Charlotte Olesen3, John Rosendal Østergaard31Department of Pediatrics, Viborg Hospital, Viborg, Denmark; 2Department of Pediatrics, Copenhagen University Hospital, Rigshospitalet, Denmark; 3Department of Pediatrics, Aarhus University Hospital, Skejby, Denmark; 4Department of Clinical Biochemistry and Immunology, Statens Serum Institut, Copenhagen, DenmarkIntroduction: The present study was conducted to establish the positive predictive value of congenital cardiac malformation diagnoses registered in the Danish National Patient Registry (NPR, thereby exploring whether the NPR can serve as a valid tool for epidemiologic studies of congenital cardiac malformations.Materials and methods: The study population comprised every individual born from 2000 to 2008 who was registered in the NPR with a congenital cardiac malformation diagnosis and treated at one of the two national departments of pediatric cardiology. Positive predictive values were established comparing NPR information with the clinical record of each individual.Results: A total of 2952 patients with a total of 3536 diagnoses were eligible for validation. Review of their clinical records unveiled no patient without cardiac malformation. In 98% (98%–99% of the cases, the NPR diagnosis could be found as the discharge diagnosis in the patient's clinical record, and in 90% (89%–91% of the cases the NPR diagnosis was considered a true reflection of the patient's actual malformation.Conclusions: Our study verifies that the present study population retrieved from the NPR is a valid tool for epidemiological research within the topic of congenital cardiac malformations, given that the research question is not dependent on a fully established sensitivity of the NPR. Precautions should be made regarding cardiac malformations characterized by low prevalence or poor predictive values, and the reported validity should not be

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

    Directory of Open Access Journals (Sweden)

    Noor Mohammad Noori

    2016-07-01

    Full Text Available Background The prevalence of celiac disease (CD is remarkably varied in Down syndrome(DSpatientscompared with other diseases.  This study aimed to assess celiac disease prevalence in Down syndrome children with and without congenital heart defects (CHD and its comparison with controls. Materials and Methods This case-control study was performed at a single center on 132 participants in three groups. Clinical and genetic tests were performed on all patients suspected with Down syndrome to confirm their diseases.  After that in patients with confirmed Down syndrome echocardiography was carried out to diagnosis of CHD. Healthy children selected randomly among those who referred to the center for annual check-up. Statistical evaluation was done using SPSS-16. Results For the factors of age, weight, height and Body Mass Index (BMI not observed significant differences between three groups of participants, but it would be observed statistically differences for the variable of tTG- IgA.  For variables of weight, tTG- IgA and BMI was observed statistically different in the case and controls. The status of tTG- IgA (normal or 20 had significant correlation with three groups of controls, Down syndrome with and without CHD. The status of tTG- IgA also had significant correlation with groups of case and controls. In comparison of tTG- IgA in DS patients with and without CHD, no significant differences were observed. Conclusion The prevalence of CD in DS patients was higher compared the controls population; and in DS patients with CHD was higher compared the DS patients without CHD.

  4. Application of new balloon catheters in the treatment of congenital heart defects

    Science.gov (United States)

    Fiszer, Roland; Szkutnik, Małgorzata; Smerdziński, Sebastian; Chodór, Beata; Białkowski, Jacek

    2016-01-01

    Introduction Balloon angioplasty (BAP) and aortic or pulmonary balloon valvuloplasty (BAV, BPV) are well-established treatment options in congenital heart defects. Recently, significant technological progress has been made and new catheters have been implemented in clinical practice. Aim To analyze the results of BAP, BAV and BPV with the new balloon catheter Valver and its second generation Valver II, which the company Balton (Poland) launched and developed. These catheters have not been clinically evaluated yet. Material and methods We performed 64 interventions with Valver I and Valver II. With Valver I the following procedures were performed: 17 BPV (including 9 in tetralogy of Fallot – TOF), 10 BAV and 27 BAP in coarctations of the aorta (CoA) – including 9 native and 18 after surgery. With Valver II ten interventions were done – 3 BPV, 2 pulmonary supravalvular BAP (after switch operations), 2 BAP of recoarctations and 3 other BAP. Age of the patients ranged from a few days to 40 years. Results All procedures were completed successfully, without rupture of any balloon catheters. The pressure gradient drop was statistically significant in all groups: BPV in isolated pulmonary valvular stenosis 28.1 mm Hg (mean), BPV in TOF 18.7 mm Hg, BAV 32.8 mm Hg, BAP in native CoA 15.4 mm Hg and in recoarctations 18.6 mm Hg. In 3 cases during rapid deflation of Valver I, wrinkles of the balloons made it impossible to insert the whole balloon into the vascular sheath (all were removed surgically from the groin). No such complication occured with Valver II. Conclusions Valver balloon catheters are an effective treatment modality in different valvular and vascular stenoses. PMID:27625686

  5. Cardiac catheterization in children with pulmonary hypertensive vascular disease: consensus statement from the Pulmonary Vascular Research Institute, Pediatric and Congenital Heart Disease Task Forces.

    Science.gov (United States)

    Del Cerro, Maria Jesus; Moledina, Shahin; Haworth, Sheila G; Ivy, Dunbar; Al Dabbagh, Maha; Banjar, Hanaa; Diaz, Gabriel; Heath-Freudenthal, Alexandria; Galal, Ahmed Nasser; Humpl, Tilman; Kulkarni, Snehal; Lopes, Antonio; Mocumbi, Ana Olga; Puri, G D; Rossouw, Beyra; Harikrishnan, S; Saxena, Anita; Udo, Patience; Caicedo, Lina; Tamimi, Omar; Adatia, Ian

    2016-03-01

    Cardiac catheterization is important in the diagnosis and risk stratification of pulmonary hypertensive vascular disease (PHVD) in children. Acute vasoreactivity testing provides key information about management, prognosis, therapeutic strategies, and efficacy. Data obtained at cardiac catheterization continue to play an important role in determining the surgical options for children with congenital heart disease and clinical evidence of increased pulmonary vascular resistance. The Pediatric and Congenital Heart Disease Task Forces of the Pulmonary Vascular Research Institute met to develop a consensus statement regarding indications for, conduct of, acute vasoreactivity testing with, and pitfalls and risks of cardiac catheterization in children with PHVD. This document contains the essentials of those discussions to provide a rationale for the hemodynamic assessment by cardiac catheterization of children with PHVD. PMID:27076908

  6. Maternal alcohol drinking pattern during pregnancy and the risk for an offspring with an isolated congenital heart defect and in particular a ventricular septal defect or an atrial septal defect

    DEFF Research Database (Denmark)

    Strandberg-Larsen, Katrine; Skov-Ettrup, Lise Skrubbeltrang; Grønbaek, Morten; Andersen, Anne-Marie Nybo; Olsen, Jørn; Tolstrup, Janne Schurmann

    2011-01-01

    alcohol. Few (if any) women with an excessive/abusive intake of alcohol were enrolled into the Danish National Birth Cohort. RESULTS: Through linkage with the National Hospital Discharge Registry, we identified 477 infants with a diagnosis of isolated congenital heart defect registered at any time during...... their first 3½-years of life; they included 198 infants with a VSD and 145 with an ASD. Neither the number of episodes of binge drinking nor binge drinking during three different developmental periods was associated with VSD or ASD. Women drinking ½-1½, 2, and 3+ drinks of alcohol per week had adjusted......BACKGROUND: This cohort study examines the possible association between maternal alcohol intake, including binge drinking, during pregnancy, and the subsequent risk of having a child with an isolated congenital heart defect and, more specifically, with the isolated form of ventricular septal defect...

  7. Prenatal diagnosis of fetal aortopulmonary septal defect with ventricular septal defect by two-dimension echocardiography

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    @@ Fetal aortopulmonary septal defect (APSD) is an extremely rare condition, accounting for 0.1%-0.2% of all cardiac defects in live births world wide.1 Hospital mortality is 13% and 33% for simple and complex APSD, respectively.2 This rare cardiac defect refers to a congenital malformation in the development of the arteriosus truncus septum, and is usually associated with a wide variety of other structural cardiac anomalies such as ventricular septal defect (VSD), pulmonary valve stegnosis and so on.3 Prenatal diagnosis of an APSD is possible by echocardiography.

  8. The role of cardiac MRI in the diagnosis and management of sinus venosus atrial septal defect

    Directory of Open Access Journals (Sweden)

    Madhusudan Ganigara

    2014-01-01

    Full Text Available Sinus venosus atrial septal defects (SV-ASDs are inter-atrial communications caused by a deficiency of the common wall between the superior or inferior vena cava and the right-sided pulmonary veins. The diagnosis can be challenging, especially in adults with delayed presentation. We present images that illustrate an example of the role of cardiac magnetic resonance imaging (CMRI in the diagnosis and follow-up of a patient with SV-ASD.

  9. The role of cardiac MRI in the diagnosis and management of sinus venosus atrial septal defect

    International Nuclear Information System (INIS)

    Sinus venosus atrial septal defects (SV-ASDs) are inter-atrial communications caused by a deficiency of the common wall between the superior or inferior vena cava and the right-sided pulmonary veins. The diagnosis can be challenging, especially in adults with delayed presentation. We present images that illustrate an example of the role of cardiac magnetic resonance imaging (CMRI) in the diagnosis and follow-up of a patient with SV-ASD

  10. 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...

  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. 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

  13. Ethnical Variations in the Incidence of Congenital Heart Defects in Gorgan, Northern Iran: A Single-Center Study

    Directory of Open Access Journals (Sweden)

    Bagher Nikyar

    2015-10-01

    Full Text Available Background: Congenital heart disease (CHD is the most common congenital anomaly in newborns. This study was performed to determine the live birth incidence of CHD by ethnicity and sex in Gorgan, Northern Iran.Methods: In this longitudinal, hospital-based study, 18162 live births in Dezyani Hospital in Gorgan, North of Iran, were screened for CHD, from 2007 through 2009. Clinical examination, echocardiography, color Doppler, and cardio catheterization were used as diagnostic tools. Sex, ethnicity, and type of CHD for each case were recorded in a pre-designed questionnaire.Results: The incidence rates of CHD in the native Fars, Sistani, and Turkmen subjects were 5.73 (95%CI: 4.53-7.15,12.27 (95%CI: 8.74-16.73, and 15.93 (95%CI: 10.00-24.02 per 1000 live births, respectively. The Turkmen to native Fars and Sistani to native Fars relative risk for congenital CHD malformations was 2.77 (95%CI: 1.73-4.44; p value < 0.001 and 1.29 (95%CI: 0.77-2.18; p value < 0.323, respectively. While atrial septal defect was the most common lesion in the native Fars subjects (2.14 per 1000 [95%CI: 1.42-3.06] and in the Sistani subjects (2.84 per 1000 [95%CI: 1.29-5.36], in the Turkmen subjects, ventricular septal defect (4.36 per 1000 [95%CI: 1.59-9.43], followed by atrial septal defect, was the most frequent lesion.Conclusion: This study showed that the incidence and pattern of CHD among live births in Gorgan, North of Iran, varied according to ethnicity. The risk of CHD was higher in the Turkmen and Sistani groups than in the Fars population

  14. Heart Attack or Sudden Cardiac Arrest: How Are They Different?

    Science.gov (United States)

    ... for Heart360 Cardiovascular Conditions • Conditions Home • Arrhythmia and Atrial Fibrillation • Cardiac Arrest • Cardiac Rehab • Cardiomyopathy • Cardiovascular Conditions of Childhood • Cholesterol • Congenital Heart Defects • Diabetes • Heart Attack • Heart Failure (HF) • Heart Valve Problems and Disease • High Blood ...

  15. Family lifestyle factors related to children s congenital heart defects in China:a case-control study

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Objective To explore the multiple risk factors for family lifestyle of children with congenital heart defects(CHDs)in Shaanxi Province,China.Methods A 1∶1 case-control study was carried out to investigate 60 pairs of children and their parents.The univariate and multivariable logistic regression models were used to analyze the influence of risk factors related to parents' lifestyle on CHDs.Results Several possible risk factors were found for CHDs,including fever(OR=4.465,P=0.017),pesticides contact(OR=2.234...

  16. 自噬体在紫绀型先天性心脏病患儿心肌中的表达%Upregulated autophagy in myocardium of infants with cyanotic congenital heart defects

    Institute of Scientific and Technical Information of China (English)

    洪毅; 蹇朝; 肖颖彬

    2009-01-01

    目的 检测紫绀型先天性心脏病患儿心肌细胞中自噬体的表达,探讨细胞自噬作用在心肌慢性缺氧适应中的意义.方法 人选行手术矫治的先天性心脏病患儿18例,其中紫绀型先天性心脏病患儿10例,非紫绀型先天性心脏病患儿8例.取手术中切除的右室流出道心肌组织作为标本,采用透射电镜技术观察心肌细胞超微结构的改变,应用western blot检测自噬体特异性标志物LC3一Ⅱ的表达情况.结果 紫绀组患儿术前血氧饱和度明显低于非紫绀组(P<0.01):紫绀组患儿心肌细线粒体数量增多、排列紊乱,内质网肿胀,可见典型自噬体形成;与非紫绀组相比,紫绀组患儿LC3-Ⅱ蛋白表达显著增高(P<0.01).结论 紫绀型先天性心脏病患儿心肌细胞自噬作用增强,可能参与慢性缺氧条件下心肌细胞的适应性调节.%Objective In the heart, autophagy is important for the turnover of organelles at low basal levels under normal conditions, but is upregulated in response to stresses such as ischemia/reperfusion and in cardiovascular diseases such as heart failure. It can prevent the heart from injury under stress conditions. This study was designed to test the hypothesis that autophagy would be upregulated in the myocardium of children with cyanotic congenital cardiac defects. Methods Eighteen children with cyanotic (n = 10) or acyanotic car-diac defects ( n= 8) who were admitted in our hospital from October 2008 to April 2009 and received surgical treatment were investigated. Samples from the right ventricular myocardium taken immediately after aortic clam-ping were morphologically studied with transmission electron microscopy for the ultrastructure. Microtubule-as-sociated protein 1 light chain 3 ( LC-3 ) was detected by Western blot analysis in the obtained samples. Results Children with cyanotic cardiac defects had higher oxyhemoglobin saturation before operation than those with acyanotic cardiac defects

  17. [Rhythm disorders and cardiac crypto-malformations].

    Science.gov (United States)

    Davy, J M; Raczka, F; Cung, T T; Combes, N; Bortone, A; Gaty, D

    2005-12-01

    Faced with a cardiac arrhythmia occuring in an apparently healthy heart, it is necessary to perform an anatomical investigation to detect any unsuspected anomalies. Congenital cardiopathy must certainly be excluded, as this is often responsible for rhythm disorders and/or cardiac conduction defects. Similarly, any acquired conditions, cardiomyopathy, or cardiac tumour must be sought. However, the possibility should always be considered of a minimal congenital malformation, which could be repsonsible for: any type of cardiac arrhythmia: rhythm disorder or conduction defect at the atrial, junctional or ventricular level, with a benign or serious prognosis. Unexpected therapeutic difficulties during radiofrequency ablation procedures or at implantation of pacemakers or defibrillators. Together with rhythm studies, the investigation of choice is high quality imaging, either the classic left or right angiography or the more modern cardiac CT or intracardiac mapping. PMID:16433240

  18. Self-Reported Health Experiences of Children Living with Congenital Heart Defects: Including Patient-Reported Outcomes in a National Cohort Study

    Science.gov (United States)

    Tadic, Valerija; Hogan, Ailbhe; Bull, Catherine; Rahi, Jugnoo Sangeeta; Dezateux, Carol

    2016-01-01

    Background Understanding children’s views about living with congenital heart defects (CHDs) is fundamental to supporting their successful participation in daily life, school and peer relationships. As an adjunct to a health and quality of life outcomes questionnaire, we asked school-age children who survived infant heart procedures to describe their experiences of living with CHDs. Methods In a UK-wide cohort study, children aged 10 to 14 years with CHDs self-completed postal questionnaires that included an open question about having a ‘heart problem’. We compared the characteristics of children with more and less severe cardiac diagnoses and, through collaborative inductive content analysis, investigated the subjective experiences and coping strategies described by children in both clinical severity groups. Results Text and/or drawings were returned by 436 children (246 boys [56%], mean age 12.1 years [SD 1.0; range 10–14]); 313 had less severe (LS) and 123 more severe (MS) cardiac diagnoses. At the most recent hospital visit, a higher proportion of the MS group were underweight (more than two standard deviations below the mean for age) or cyanosed (underweight: MS 20.0%, LS 9.9%; cyanosed: MS 26.2%, LS 3.5%). Children in the MS group described concerns about social isolation and feeling ‘different’, whereas children with less severe diagnoses often characterised their CHD as ‘not a big thing’. Some coping strategies were common to both severity groups, including managing health information to avoid social exclusion, however only children in the LS group considered their CHD ‘in the past’ or experienced a sense of survivorship. Conclusions Children’s reported experiences were not dependent on their cardiac diagnosis, although there were clear qualitative differences by clinical severity group. Children’s concerns emphasised social participation and our findings imply a need to shift the clinical focus from monitoring cardiac function to

  19. Congenital diaphragmatic hernia interval on chromosome 8p23.1 characterized by genetics and protein interaction networks

    DEFF Research Database (Denmark)

    Longoni, Mauro; Hansen, Kasper Lage; Russell, Meaghan K.;

    2012-01-01

    Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We present findings from high‐resolution arrays in patients who carry a loss (n = 18) or a gain (n = 1) of sub‐band 8p23.1. We confirm a regio...

  20. Imaging Techniques in Percutaneous Cardiac Structural Interventions: Atrial Septal Defect Closure and Left Atrial Appendage Occlusion.

    Science.gov (United States)

    Rodríguez Fernández, Antonio; Bethencourt González, Armando

    2016-08-01

    Because of advances in cardiac structural interventional procedures, imaging techniques are playing an increasingly important role. Imaging studies show sufficient anatomic detail of the heart structure to achieve an excellent outcome in interventional procedures. Up to 98% of atrial septal defects at the ostium secundum can be closed successfully with a percutaneous procedure. Candidates for this type of procedure can be identified through a systematic assessment of atrial septum anatomy, locating and measuring the size and shape of all defects, their rims, and the degree and direction of shunting. Three dimensional echocardiography has significantly improved anatomic assessments and the end result itself. In the future, when combined with other imaging techniques such as cardiac computed tomography and fluoroscopy, 3-dimensional echocardiography will be particularly useful for procedure guidance. Percutaneous closure of the left atrial appendage offers an alternative for treating patients with atrial fibrillation and contraindication for oral anticoagulants. In the future, the clinical focus may well turn to stroke prevention in selected patients. Percutaneous closure is effective and safe; device implantation is successful in 94% to 99% of procedures. However, the procedure requires an experienced cardiac structural interventional team. At present, 3-dimensional echocardiography is the most appropriate imaging technique to assess anatomy suitability, select device type and size, guide the procedure alongside fluoroscopy, and to follow-up the patient afterwards. PMID:27354151

  1. Cardiac magnetic resonance imaging in patients with congenital heart disease; Kardiale MRT bei Patienten mit angeborenen Herzfehlern

    Energy Technology Data Exchange (ETDEWEB)

    Kreitner, Karl-Friedrich [Mainz Univ. Universitaetsmedizin Mainz (Germany). Klinik und Poliklinik fuer Diagnostische und Interventionelle Radiologie; Kaufmann, Lilly [Mainz Univ. (Germany); Sorantin, Erich [Univ.-Klinik fuer Radiologie, Graz (Austria). Klinische Abt. fuer Kinderradiologie

    2015-06-15

    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.

  2. 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...

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

    DEFF Research Database (Denmark)

    Knudsen, Tanja Majbrit; Hansen, Anne Vinkel; Garne, Ester; Andersen, Anne-Marie Nybo

    2014-01-01

    BACKGROUND: Previous studies suggest a possible association between maternal use of selective serotonin-reuptake inhibitors (SSRIs) during early pregnancy and congenital heart defects (CHD). The purpose of this study was to verify this association by using validated data from the Danish EUROCAT...... Register, and secondary, to investigate whether the risk differs between various socioeconomic groups. METHODS: We conducted a cohort study based on Danish administrative register data linked with the Danish EUROCAT Register, which includes all CHD diagnosed in live births, fetal deaths and in pregnancies...... 845 pregnant women who used SSRIs during first trimester increased four times (AOR 4.03 (95% CI 1.75-9.26)). We found no increased risk of septal defects. Socioeconomic position did not modify the association between maternal SSRI-use during pregnancy and severe CHD. CONCLUSION: This study, which is...

  4. 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...

  5. Fetal cardiac arrhythmia: antepartum diagnosis of a case of congenital atrial flutter.

    OpenAIRE

    Anderson, K. J.; Simmons, S. C.; Hallidie-Smith, K A

    1981-01-01

    A case of antepartum atrial tachyarrhythmia was detected in the 36th week of pregnancy. Cardiotocograph recordings done twice daily enabled close surveillance of the fetal condition after oxytoxin challenge testing had failed to show evidence of hypoxia. After a diagnosis of fetal cardiac arrhythmia had been made, elective caesarean section in the 40th week of pregnancy resulted in delivery of an infant in atrial flutter and cardiac failure. Both these problems were soon resolved by cardiover...

  6. Prevalência de cardiopatias congênitas em portadores da síndrome de Down na cidade de Pelotas (RS Prevalence of congenital heart defects in patients with Down syndrome in the municipality of Pelotas, Brazil

    Directory of Open Access Journals (Sweden)

    Luciana T. Vilas Boas

    2009-10-01

    -sectional study including children with Down syndrome who were born and lived in Pelotas from January 2000 to December 2005. Data were collected by means of home interviews with mothers or guardians. Univariate and bivariate analyses were carried out to analyze the factors related to congenital heart defect. RESULTS: Forty-seven mothers of patients with Down syndrome were interviewed. Twenty-two (46.8% of the patients had a diagnosis of congenital heart defect. Of them, 28% had early cardiac evaluation before 3 months of life. The most frequent heart defect was interatrial communication (17%; atrioventricular septal defect affected five patients. Bivariate analysis between the outcome congenital heart defect and the predicting factors maternal age, paternal age, parents' and child's skin color, presence of other malformations and child's sex showed that the associations were not statistically significant. CONCLUSIONS: The prevalence of Down syndrome and congenital heart defects in our region is similar to the rates found by other authors; therefore, we highlight the importance of diagnostic suspicion and early referral by pediatricians to cardiac evaluation. Another relevant aspect is the small number of patients who underwent karyotype testing. In addition, the number of associated malformations was lower than that found by other authors.

  7. Entrance radiation doses during paediatric cardiac catheterizations performed for diagnosis or the treatment of congenital heart disease

    International Nuclear Information System (INIS)

    The purpose of this study was to estimate the radiation exposure of children, during cardiac catheterizations for the diagnosis or treatment of congenital heart disease. Radiation doses were estimated for 45 children aged from 1 d to 13 y old. Thermoluminescent dosemeters (TLDs) were used to estimate the posterior entrance dose (DP), the lateral entrance dose (DLAT), the thyroid dose and the gonads dose. A dose-area product (DAP) meter was also attached externally to the tube of the angiographic system and gave a direct value in mGy cm2 for each procedure. Posterior and lateral entrance dose values during cardiac catheterizations ranged from 1 to 197 mGy and from 1.1 to 250.3 mGy, respectively. Radiation exposure to the thyroid and the gonads ranged from 0.3 to 8.4 mGy to 0.1 and 0.7 mGy, respectively. Finally, the DAP meter values ranged between 360 and 33,200 mGy cm2. Radiation doses measured in this study are comparable with those reported to previous studies. Moreover, strong correlation was found between the DAP values and the entrance radiation dose measured with TLDs. (authors)

  8. Bayesian multinomial probit modeling of daily windows of susceptibility for maternal PM2.5 exposure and congenital heart defects.

    Science.gov (United States)

    Warren, Joshua L; Stingone, Jeanette A; Herring, Amy H; Luben, Thomas J; Fuentes, Montserrat; Aylsworth, Arthur S; Langlois, Peter H; Botto, Lorenzo D; Correa, Adolfo; Olshan, Andrew F

    2016-07-20

    Epidemiologic studies suggest that maternal ambient air pollution exposure during critical periods of pregnancy is associated with adverse effects on fetal development. In this work, we introduce new methodology for identifying critical periods of development during post-conception gestational weeks 2-8 where elevated exposure to particulate matter less than 2.5 µm (PM2.5 ) adversely impacts development of the heart. Past studies have focused on highly aggregated temporal levels of exposure during the pregnancy and have failed to account for anatomical similarities between the considered congenital heart defects. We introduce a multinomial probit model in the Bayesian setting that allows for joint identification of susceptible daily periods during pregnancy for 12 types of congenital heart defects with respect to maternal PM2.5 exposure. We apply the model to a dataset of mothers from the National Birth Defect Prevention Study where daily PM2.5 exposures from post-conception gestational weeks 2-8 are assigned using predictions from the downscaler pollution model. This approach is compared with two aggregated exposure models that define exposure as the average value over post-conception gestational weeks 2-8 and the average over individual weeks, respectively. Results suggest an association between increased PM2.5 exposure on post-conception gestational day 53 with the development of pulmonary valve stenosis and exposures during days 50 and 51 with tetralogy of Fallot. Significant associations are masked when using the aggregated exposure models. Simulation study results suggest that the findings are robust to multiple sources of error. The general form of the model allows for different exposures and health outcomes to be considered in future applications. Copyright © 2016 John Wiley & Sons, Ltd. PMID:26853919

  9. Health needs assessment for congenital anomalies in middle-income countries: Examining the case for neural tube defects in Brazil.

    Science.gov (United States)

    Schuler-Faccini, Lavinia; Sanseverino, Maria Teresa V; de Rocha Azevedo, Lígia Marques; Moorthie, Sowmiya; Alberg, Corinna; Chowdhury, Susmita; Sagoo, Gurdeep S; Burton, Hilary; Nacul, Luis C

    2014-04-01

    Recent economic improvement in Brazil has been reflected in better maternal-child health indicators, with decreases in infant and perinatal mortality. However, under-five mortality due to congenital disorders remained unchanged, and congenital disorders have become the second leading cause of infant mortality. In the present study, we used the PHG Foundation Health Needs Assessment (HNA) Toolkit with the objective of first assessing the burden of disease caused by neural tube defects (NTDs) in Brazil and the impact of interventions already put in place to address the burden, and second to evaluate and prioritize further interventions and policies required for its prevention and treatment. The results from these two components of the HNA process are described in this paper. The published literature was reviewed to identify studies of NTDs (prevalence; morbidity; prenatal, perinatal, and postnatal mortality; treatment or prevention). Data on indicators of maternal and child health were obtained directly from the Brazilian Ministry of Health, through the online Live Births Information System (SINASC) and from the Mortality Information System (SIM). Descriptive analyses included reports of the rates of NTD in liveborns, fetal, and infant deaths. Differences between folic acid flour pre-fortification (2001-2004) and post-fortification (2006-2010) periods were expressed as prevalence rate ratios. Around 20 % of fetal deaths were related to congenital disorders with approximately 5 % of those being NTDs. For infant mortality, congenital disorders were notified in approximately 15 % of cases, with NTDs present in 10 % of the malformed children. Although statistically significant, the prevalence rate ratio (PRR) for spina bifida in live births was only 0.937 (95 % confidence interval (CI) 0.884-0.994), a decrease of 6.3 % when comparing the pre and post-fortification periods. The impact of fortification seemed to be more visible in fetal deaths due to anencephaly

  10. Fukuyama-type congenital muscular dystrophy and defective glycosylation of α-dystroglycan

    OpenAIRE

    Saito Fumiaki; Matsumura Kiichiro

    2011-01-01

    Abstract Fukuyama-type congenital muscular dystrophy (FCMD) is a severe form of muscular dystrophy accompanied by abnormalities in the eye and brain. The incidence of FCMD is particularly high in the Japanese population. Mutations in the fukutin gene have been identified in patients with FCMD. Fukutin is predicted to be a Golgi apparatus resident protein and to be involved in the post-translational modification of cell-surface proteins. Recently, progress has been made in our understanding of...

  11. Postnatal manipulation of Pax6 dosage reverses congenital tissue malformation defects

    OpenAIRE

    Gregory-Evans, Cheryl Y.; Wang, Xia; Wasan, Kishor M.; Zhao, Jinying; Metcalfe, Andrew L.; Gregory-Evans, Kevin

    2013-01-01

    Aniridia is a congenital and progressive panocular condition with poor visual prognosis that is associated with brain, olfactory, and pancreatic abnormalities. Development of aniridia is linked with nonsense mutations that result in paired box 6 (PAX6) haploinsufficiency. Here, we used a mouse model of aniridia to test the hypothesis that manipulation of Pax6 dosage through a mutation-independent nonsense mutation suppression strategy would limit progressive, postnatal damage in the eye. We f...

  12. Screening for congenital neural tube defects in a high-risk area: an epidemiological perspective.

    OpenAIRE

    Stone, D H; Smalls, M J; Rosenberg, K; Womersley, J

    1988-01-01

    Data from the Glasgow Register of Congenital Malformations were used to investigate the extent of the recent decline in the prevalence of anencephaly and spina bifida, and the contribution of antenatal screening to it. Over the period 1974-85 inclusive, 303 pregnancies with an anencephalic foetus were diagnosed, representing an "adjusted" prevalence of 1.9 per 1000 total births, of which 179 (59%) were terminated following antenatal screening. There were 364 pregnancies with a spina bifida fo...

  13. Prenatal Diagnosis of a Congenital Postaxial Longitudinal Limb Defect: A Case Report

    OpenAIRE

    Luís Mendes Graça; Maria Antonieta Melo; Joana Pauleta

    2010-01-01

    Introduction. Although congenital longitudinal fibular deficiency is one of the most common long bone deficiencies, there are few published cases of its prenatal diagnosis. Case report. A right longitudinal deficiency of the fibula associated with tibial shortening, foot equinovalgus, and absence of the fourth and fifth foot rays diagnosed at 22 weeks gestation is described. Sequential ultrasonographic surveillance was performed without obstetric complications. The anomaly was confirmed after...

  14. Prevalence of long QT syndrome and other cardiac defects in deaf-mute children

    International Nuclear Information System (INIS)

    Background: Long QT syndrome is considered a fatal disease because of its association with ventricular arrhythmias and sudden cardiac death. Objectives of study were to determine the prevalence of long QT syndrome and other heart diseases, in deaf-mute children. Methods: A Cross-sectional descriptive study was conducted at Cholistan special education centre and Cardiology department, Sheikh Zayed hospital Rahim Yar Khan, Pakistan in September 2006. A total of 104 congenitally deaf-mute children were assessed. Height, weight and blood pressure measured, 12-lead electrocardiogram done and QTc calculated using Bazette's formula. Children with prolonged QTc underwent 24-hour ambulatory ECG recording. All were auscultated following complete protocol. A child with murmur was further evaluated with colour Doppler echocardiography. Audiometry was performed on all the children and the result interpreted according to WHO recommendations. Diagnosis of LQTS was based on Revised Schwartz criteria. Results: Out of 104 children, 62 were male with mean age 11.89 yrs. The average systolic and diastolic BP was 97/67 mmHg. Average height was 126 Cm. All children had moderate to severe bilateral sensorineural hearing loss (40-80 dB). One child had associated Patent Ductus Arteriosis. Fifteen had an innocent murmur. Prevalence of congenital heart disease was found to be 0.1/1000. Four children had QT interval more than 440 mSec, (range 0.46-0.47 mSec.). Both genders were equally affected. Three children had high probability of LQTS and one had intermediate probability. Screening of family of these 4 patients showed prolonged QT interval in the sibling of one patient. Conclusion: Our study highlights the significant prevalence of Jervell Lange-Nielsen Syndrome in Pakistani deaf-mute children, which may be associated to the high level of consanguinity in this region. Awareness of this syndrome among health care providers is needed as timely diagnosis and subsequent treatment may prevent

  15. 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 © ...

  16. Pulmonary Valve Infective Endocarditis in an Adult Patient with Severe Congenital Pulmonary Stenosis and Ostium Secundum Atrial Septal Defect

    Directory of Open Access Journals (Sweden)

    Juan Lacalzada

    2010-01-01

    Full Text Available A hypertensive 76-year-old man with severe pulmonary valve stenosis (PVS and recent initiation of haemodialysis was referred with fever, chills, and asthenia. One month prior, he had been admitted with similar symptoms. Transthoracic echocardiography (TTE had shown a PVS and no valve vegetations were observed. Following discharge, he was readmitted with fever and blood cultures positive for Staphylococcus haemolyticus. A new TTE revealed two pulmonary valve vegetations and a previously undetected ostium secundum-type atrial septal defect (ASD, confirmed by transesophageal echocardiography. The clinical course was uneventful with intravenous antibiotic treatment and the patient was safely discharged. This is a case of pulmonary valve infective endocarditis (IE. The incidence of right-sided IE is on the rise due to the increased number of patients using central venous lines, pacing, haemodialysis and other intravascular devices. Pulmonary valve IE is extremely rare, especially in structurally normal hearts. The case reported here, presents a combination of predisposing factors, such as severe congenital PVS, the presence of a central venous catheter, and haemodialysis. The fact that it was an older patient with severe congenital PVS and associated with a previously undiagnosed ASD, is also an unusual feature of this case, making it even more interesting.

  17. Results of treatment of congenital coronary artery fistulae in combination with cardiac arrhythmias

    Directory of Open Access Journals (Sweden)

    Bockeria L.A.

    2013-03-01

    and quality of life. Coronary angiography and computed tomography are the main diagnostic methods allowing to examine CAF. Hemodynamically non-compromised CAF coincided with CA require a follow-up and, if necessary, surgical and/or medical therapy of CA. Main indications for embolization are proximal location and single CAF. Indications for surgical on-pump repair are concomitant cardiac pathology and relatively large and wide CAF.

  18. Epidemiology of congenital heart disease in Louisiana: an association between race and sex and the prevalence of specific cardiac malformations.

    Science.gov (United States)

    Storch, T G; Mannick, E E

    1992-09-01

    We hypothesized that susceptibility to the genetic and environmental factors that disrupt cardiac development is associated with race and sex. To evaluate this hypothesis, we asked whether the prevalence of specific cardiac malformations differs by race and sex. We attempted to include all infants born alive in the State of Louisiana from January 1, 1988, through December 31, 1989, and diagnosed by echocardiography, catheterization and/or autopsy within a year of birth as having one of ten specific cardiac malformations. The prevalence of atrioventricular canal defects (AVCD) per 1,000 live births was significantly higher for black females (.744) compared to black males (.198) and for white females (.414) compared to white males (.116). Complete transposition of the great arteries (TGA) was significantly higher for white males (.559) compared to white females (.122); in contrast, TGA was not significantly different for black males (.198) and black females (.169). Obstructive left heart syndrome (OLHS)--aortic stenosis and/or coarctation of the aorta--was significantly higher for white males (.652) compared to white females (.317); in contrast, OLHS was not significantly different for black males (.264) and black females (.169). Single ventricle (SV) was significantly higher for whites (.202) compared to blacks (.067). We did not find that race and sex were associated with differences in the prevalence of tetralogy of Fallot and hypoplastic left heart syndrome. The numbers of infants with anomalous pulmonary venous return, tricuspid atresia, double outlet right ventricle, or truncus arteriosus were too small to measure an association with race and sex. These results demonstrate that the prevalence of a subset of cardiac malformations differs by race and sex.(ABSTRACT TRUNCATED AT 250 WORDS) PMID:1523585

  19. Clinical characteristics of megaconial congenital muscular dystrophy due to choline kinase beta gene defects in a series of 15 patients.

    Science.gov (United States)

    Haliloglu, Goknur; Talim, Beril; Sel, Cigdem Genc; Topaloglu, Haluk

    2015-11-01

    A new form of congenital muscular dystrophy (CMD) with multisystem involvement and characteristic mitochondrial structural changes, due to choline kinase beta (CHKB) gene defects has been characterized by intellectual disability, autistic features, ichthyosis-like skin changes, and dilated cardiomyopathy. We define the clinical characteristics in 15 patients, from 14 unrelated families with so-called 'megaconial CMD', all having mutations in CHKB. Core clinical phenotype included global developmental delay prominent in gross-motor and language domains, severe intellectual disability (ID), and/or muscle weakness in all cases. Muscle biopsies were equivocally 'megaconial' in all. Other peculiarities were: ichthyosis-like skin changes (n = 11), increased serum CK levels (n = 12), microcephaly (n = 6), dysmorphic facial features (n = 7), neonatal hypotonia (n = 3), seizures (n = 3), epileptiform activity without clinically overt seizures (n = 2), dilated cardiomyopathy (n = 2), decreased left ventricular systolic function (n = 2), congenital heart defects (n = 3), sensorineural (n = 1), and conductive hearing loss (n = 1). Ten patients had cranial neuroimaging (MRI-MRS) study, which was notably normal in all, other than one patient having a decreased choline: creatine peak. Intra-familial variability in clinical expression of the disease is noted in four families. Two siblings from the same family, one presenting with global developmental delay and dilated cardiomyopathy, and the other with ichthyosis, ID and proximal weakness without cardiomyopathy died at the ages of 2 years 1 month, and 7 years 4 months respectively. Evolution was progressive (n = 13) and static (n = 2). PMID:26067811

  20. Digital subtraction angiography in cardiac diseases

    International Nuclear Information System (INIS)

    DSA was done in 133 examinations of 128 patients during 2 years consist of 9 examination of IV DSA and 124 examination of selective cardiac DSA after cardiac catheterization. Open heart surgery was performed in 90 patients and 12 patients showed discrepancy between pre-and post operative diagnosis, showing a total 86.7% of diagnostic accuracy with DSA. We experienced the significant reduction in dose of contrast media, 30-40% of dose of conventional cardiac angiography. It is concluded that DSA is useful in the evaluation of septal defects, valvular disease and other congenital heart disease. DSA is an accurate simple and safe method in evaluating of cardiac diseases.

  1. A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene—A Molecular Dynamic Simulation Approach

    OpenAIRE

    Abdul Samad, Firoz; Suliman, Bandar A.; Basha, Syed Hussain; Manivasagam, Thamilarasan; Essa, Musthafa Mohamed

    2016-01-01

    Congenital heart defects (CHD) presented as structural defects in the heart and blood vessels during birth contribute an important cause of childhood morbidity and mortality worldwide. Many Single nucletotide polymorphisms (SNPs) in different genes have been associated with various types of congenital heart defects. NKX 2–5 gene is one among them, which encodes a homeobox-containing transcription factor that plays a crucial role during the initial phases of heart formation and development. Mu...

  2. 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...

  3. Congenital Hypothyroidism Caused by a PAX8 Gene Mutation Manifested as Sodium/Iodide Symporter Gene Defect

    Directory of Open Access Journals (Sweden)

    Wakako Jo

    2010-01-01

    Full Text Available Loss-of-function mutations of the PAX8 gene are considered to mainly cause congenital hypothyroidism (CH due to thyroid hypoplasia. However, some patients with PAX8 mutation have demonstrated a normal-sized thyroid gland. Here we report a CH patient caused by a PAX8 mutation, which manifested as iodide transport defect (ITD. Hypothyroidism was detected by neonatal screening and L-thyroxine replacement was started immediately. Although 123I scintigraphy at 5 years of age showed that the thyroid gland was in the normal position and of small size, his iodide trapping was low. The ratio of the saliva/plasma radioactive iodide was low. He did not have goiter; however laboratory findings suggested that he had partial ITD. Gene analyses showed that the sodium/iodide symporter (NIS gene was normal; instead, a mutation in the PAX8 gene causing R31H substitution was identified. The present report demonstrates that individuals with defective PAX8 can have partial ITD, and thus genetic analysis is useful for differential diagnosis.

  4. Comprehensive maternal serum proteomics identifies the cytoskeletal proteins as non-invasive biomarkers in prenatal diagnosis of congenital heart defects.

    Science.gov (United States)

    Chen, Lizhu; Gu, Hui; Li, Jun; Yang, Ze-Yu; Sun, Xiao; Zhang, Li; Shan, Liping; Wu, Lina; Wei, Xiaowei; Zhao, Yili; Ma, Wei; Zhang, Henan; Cao, Songying; Huang, Tianchu; Miao, Jianing; Yuan, Zhengwei

    2016-01-01

    Congenital heart defects (CHDs) are the most common group of major birth defects. Presently there are no clinically used biomarkers for prenatally detecting CHDs. Here, we performed a comprehensive maternal serum proteomics assessment, combined with immunoassays, for the discovery of non-invasive biomarkers for prenatal diagnosis of CHDs. A total of 370 women were included in this study. An isobaric tagging for relative and absolute quantification (iTRAQ) proteomic approach was used first to compare protein profiles in pooled serum collected from women who had CHD-possessing or normal fetuses, and 47 proteins displayed significant differential expressions. Targeted verifications were performed on 11 proteins using multiple reaction monitoring mass spectrometry (MRM-MS), and the resultant candidate biomarkers were then further validated using ELISA analysis. Finally, we identified a biomarker panel composed of 4 cytoskeletal proteins capable of differentiating CHD-pregnancies from normal ones [with an area under the receiver operating characteristic curve (AUC) of 0.938, P < 0.0001]. The discovery of cytoskeletal protein changes in maternal serum not only could help us in prenatal diagnosis of CHDs, but also may shed new light on CHD embryogenesis studies. PMID:26750556

  5. 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.

  6. Successful three stage repair of a large congenital abdominal region defect

    Directory of Open Access Journals (Sweden)

    Vaidehi Agrawal

    2015-06-01

    Full Text Available We present two infants born with large, right upper quadrant defects which cannot be categorized as either a gastroschisis or omphalocele. We successfully managed one infant with a three stage repair using polytetrafluoroethylene (PTFE patch, porcine urinary bladder matrix (UBM and delayed surgical closure. The second infant passed away due to parental consent care withdrawal.

  7. Prenatal diagnosis of a fetal abdominal eventration: a rare congenital abdominal wall defect.

    Science.gov (United States)

    Roth, Philippe; Martin, Alain; Bawab, Fariz; Fellmann, Florence; Aubert, Didier; Maillet, Robert

    2008-01-01

    We report a case of abdominal eventration associated with cystic fibrosis, diagnosed by mid-trimester ultrasonography. The defect concerned the abdominal muscles and their aponevrotic sheath, but respected the skin. There was no associated malformation. The outcome was favorable after surgery, and the infant is well at the age of 6 months. PMID:18046068

  8. Drinking & Congenital Birth Defects: Alcohol Awareness in the Northern Rivers Region of New South Wales, Australia

    Science.gov (United States)

    Yeigh, Tony; Dip, Grad; Kean, Brian

    2005-01-01

    Purpose: Guidelines developed to minimise the risk of harm associated with alcohol consumption in Australia focus on promoting population health by changing cultural attitudes. This research study was conducted to uncover attitudes toward maternal drinking and awareness of alcohol-related birth defects within the semi-rural Northern Rivers area of…

  9. Non-invasive assessment of congenital pulmonary vein stenosis in children using cardiac-non-gated CT with 64-slice technology

    International Nuclear Information System (INIS)

    Background: Management of congenital pulmonary vein stenosis is a diagnostic challenge. Echocardiography may be insufficient and thus cardiac catheterization remains the reference standard in this setting. The aim of the study was to investigate the accuracy of cardiac-non-gated CT using 64-slice technology in detecting congenital pulmonary vein stenosis in children. Materials and methods: CT examinations were consecutively performed from May 2005 to December 2006 in 13 children aged 1.5-12 months (median 5 months) for suspected congenital pulmonary vein stenosis. Cardiac-non-gated CT acquisitions were performed after the peripheral injection of contrast agent. Pulmonary veins were evaluated for their pattern of connectivity from the lung to the left atrium and for the presence of stenosis. CT findings of pulmonary vein stenosis were compared with combined findings available from echocardiography, catheterization and surgery. Results: Pulmonary veins from the right lung (n = 29) and left lung (n = 26) were evaluated as separate structures (N = 55). Of the 55 structures, 32 had surgical and/or catheterization data and 45 had echocardiography for comparison. CT visualized 100% (55/55) of the investigated structures, while echocardiography visualized 82% (45/55). In the 13 subjects CT identified 10 stenotic pulmonary veins. CT confirmed the echocardiography suspicion of pulmonary vein stenosis in 100% (7/7) and established a new diagnosis in 3 other patients. CT agreed with surgery/catheterization in 100% (10/10) of the available comparisons. Conclusion: Cardiac-non-gated CT assessed the pulmonary veins more completely than echocardiography and should be considered as a viable alternative for invasive pulmonary venography for detecting pulmonary vein stenosis in children.

  10. Presentation of congestive cardiac failure in children with ventricular septal defect

    International Nuclear Information System (INIS)

    Background: While there is much data on cardiac problems of adults, there is a limited statistical data available to evaluate the magnitude of the cardiac problems in children in Pakistan. Many of these children present with recurrent chest infections and congestive cardiac failure (CCF), and are managed by general practitioners. A careful search for underlying cardiac problems and awareness about the presentation of CCF and its magnitude will definitely decrease the morbidity and mortality of these children. The objective of this study was to see the frequency and clinical presentation of CCF in children with Ventricular Septal Defect (VSD). Methods: Forty-nine patients met the preset criteria during the study period of 6 months. A detailed history and physical examination with special emphasis on symptoms and signs was sought and the findings were noted in a questionnaire. Data was analysed using SPSS-11. Frequencies and percentages were calculated for all categorical variables. Results: CCF in VSD was found more in males, with a male to female ratio of 1.45:1. Majority (63.1%) of the patients presented in infancy. The common symptoms at presentation were dyspnoea (98%), cough (83.7%), and feeding difficulty (9.6%). Other important symptoms were fever, fatigue, failure to thrive, sweating and wheezing. The common physical signs in order of frequency were murmur 98%, tachypnoea 91.8%, tachycardia 89.8%, hepatomegaly 89.9% and crackles in chest 85.7%. Other presenting signs were displaced apex beat 57%, oedema 28.6% and chest deformity 20.4%. Regarding the type of VSD, peri membranous was the commonest 61.2% as confirmed by echocardiography. Conclusion: This study was done on a smaller scale in hospitalised children. The exact studies regarding CCF in paediatric patients are scarce. There is a need to design more studies in children with CCF. Early recognition of signs and symptoms of CCF on paediatric patients with VSD and awareness at primary health care level

  11. Paediatric and congenital cardiac surgery in emerging economies: surgical 'safari' versus educational programmes.

    Science.gov (United States)

    Corno, Antonio F

    2016-07-01

    To attract the interest of all people potentially involved in humanitarian activities in the emerging economies, in particular giving attention to the basic requirements of the organization of paediatric cardiac surgery activities, the requirements for a successful partnership with the local existing organizations and the basic elements of a patient-centred multidisciplinary integrated approach. Unfortunately, for many years, the interventions in the low and middle income countries were largely limited to short-term medical missions, not inappropriately nicknamed 'surgical safari', because of negative general and specific characteristics. The negative aspects and the limits of the short-term medical missions can be overcome only by long-term educational programmes. The most suitable and consistent models of long-term educational programmes have been combined and implemented with the personal experience to offer a proposal for a long-term educational project, with the following steps: (i) site selection; (ii) demographic research; (iii) site assessment; (iv) organization of surgical educational teams; (v) regular frequency of surgical educational missions; (vi) programme evolution and maturation; (vii) educational outreach and interactive support. Potential limits of a long-term educational surgical programme are: (i) financial affordability; (ii) basic legal needs; (iii) legal support; (iv) non-profit indemnification. The success should not be measured by the number of successful operations of any given mission, but by the successful operations that our colleagues perform after we leave. Considering that the children in need outnumber by far the people able to provide care, in this humanitarian medicine there should be plenty of room for cooperation rather than competition. The main goal should be to provide teaching to local staff and implement methods and techniques to support the improvement of the care of the patients in the long run. This review focuses on the

  12. Congenital malformations in Ecuadorian children: urgent need to create a National Registry of Birth Defects

    OpenAIRE

    Fabricio González-Andrade; Ramiro López-Pulles

    2012-01-01

    Fabricio González-Andrade1, Ramiro López-Pulles21Department of Medicine, Metropolitan Hospital, Quito, Ecuador; 2Science and Technology Process of the Ministry of Public Health, Biomedical Center of the Central University and Regional Autonomic University of the Audes, Quito, Ecuador Universidad Central del Ecuador, Quito, EcuadorAim: This study sets out (a) to estimate the prevalence of admissions by birth defects, using the official database of hospitals of Ecuador; an...

  13. Disorder of Sexual Development and Congenital Heart Defect in 47XYY: Clinical Disorder or Coincidence?

    Directory of Open Access Journals (Sweden)

    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.

  14. Induced apnea enhances image quality and visualization of cardiopulmonary anatomic during contrastenhanced cardiac computerized tomographic angiography in children

    OpenAIRE

    Murali Chakravarthy; Gubbihalli Sunilkumar; Sumant Pargaonkar; Rajathadri Hosur; Chidananda Harivelam; Deepak Kavaraganahalli; Pradeep Srinivasan

    2015-01-01

    Objective: The purpose of our study was to determine the effect of induced apnea on quality of cardiopulmonary structures during computerized tomographic (CT) angiography images in children with congenital heart diseases. Methods: Pediatric patients with congenital heart defects undergoing cardiac CT angiography at our facility in the past 3 years participated in this study. The earlier patients underwent cardiac CT angiography without induced apnea and while, later, apnea was induced in pati...

  15. Spontaneous tension pneumothorax during laparoscopic cholecystectomy secondary to congenital diaphragm defects

    Institute of Scientific and Technical Information of China (English)

    Zhengnian Ding; Qinhai Zhou; Bo Gui

    2009-01-01

    A 67-year-old woman with chronic cholecystitis was scheduled to have laparoscopic cholecystectomy under general anesthesia. About 5~10 min after the CO2 intraperitoneal insufflation, the peak airway pressure gradually increased from 15 cmH2O to 27 cmH2O, the end-tidal CO2(EtCO2) from 32 mmHg to 56 mmHg. The SpO2 decreased from 100% to 96%, and blood pressure from 135/80 mmHg to 80/ 52 mmHg. A fight side tension pneumothorax was confirmed and a drainage tube was placed in the fight pleura] cavity. As the continuous gas leakage from the drainage tube was noted, even as ventilation was withheld, the diaphragm was carefully examined and a porous diaphragm was found. These defects were then patched with biomedical materials. The operation was finished uneventfully. It was concluded that in a patient with a tension pneumothorax during laparoscopic surgery, a diaphragm defect should be taken into consideration.

  16. Maternal exposure to air pollutant PM2.5 and PM10 during pregnancy and risk of congenital heart defects.

    Science.gov (United States)

    Zhang, Bin; Liang, Shengwen; Zhao, Jinzhu; Qian, Zhengmin; Bassig, Bryan A; Yang, Rong; Zhang, Yiming; Hu, Ke; Xu, Shunqing; Zheng, Tongzhang; Yang, Shaoping

    2016-06-01

    Maternal exposure to ambient air pollution has increasingly been linked to congenital heart defects (CHDs). The objective of this study was to evaluate whether high levels of maternal exposure to PM2.5 and PM10 are related to increased risk of CHDs in Wuhan, China. We conducted a cohort study with a total of 105,988 live-born infants, stillbirths, and fetal deaths. The study included mothers living in the urban district of Wuhan during pregnancy over the 2-year period from 10 June 2011 to 9 June 2013. For each study participant, we assigned 1-month and 1-week averages of PM10 and PM2.5 exposure based on measurements obtained from the nearest exposure monitor to the living residence of mothers during their early pregnancy period. Logistic regression analyses were conducted to calculate the adjusted odds ratios (aORs) and 95% confidence intervals (CI) for the association between exposure to these ambient air pollutants during early pregnancy and CHDs. We observed an increased risk of CHDs, particularly ventricular septal defect (VSD), with increasing PM2.5 exposure. Using 1-week averages, we also observed significant monotonically increasing associations between PM2.5 exposure during weeks 7-10 of pregnancy and risk of VSD, with aORs ranging from 1.11 to 1.17 (95% CI: 1.02-1.20, 1.03-1.22, 1.05-1.24, and 1.08-1.26 separately) per a 10 μg/m(3) change in PM2.5 concentration. Our study contributes to the small body of knowledge regarding the association between in utero exposure to air pollution and CHDs, but confirmation of these associations will be needed in future studies. PMID:26883477

  17. Maternal exposure to air pollutant PM2.5 and PM10 during pregnancy and risk of congenital heart defects

    Science.gov (United States)

    Zhang, Bin; Liang, Shengwen; Zhao, Jinzhu; Qian, Zhengmin; Bassig, Bryan A; Yang, Rong; Zhang, Yiming; Hu, Ke; Xu, Shunqing; Zheng, Tongzhang; Yang, Shaoping

    2016-01-01

    Maternal exposure to ambient air pollution has increasingly been linked to congenital heart defects (CHDs). The objective of this study was to evaluate whether high levels of maternal exposure to PM2.5 and PM10 are related to increased risk of CHDs in Wuhan, China. We conducted a cohort study with a total of 105,988 live-born infants, stillbirths, and fetal deaths. The study included mothers living in the urban district of Wuhan during pregnancy over the 2-year period from 10 June 2011 to 9 June 2013. For each study participant, we assigned 1-month and 1-week averages of PM10 and PM2.5 exposure based on measurements obtained from the nearest exposure monitor to the living residence of mothers during their early pregnancy period. Logistic regression analyses were conducted to calculate the adjusted odds ratios (aORs) and 95% confidence intervals (CI) for the association between exposure to these ambient air pollutants during early pregnancy and CHDs. We observed an increased risk of CHDs, particularly ventricular septal defect (VSD), with increasing PM2.5 exposure. Using 1-week averages, we also observed significant monotonically increasing associations between PM2.5 exposure during weeks 7–10 of pregnancy and risk of VSD, with aORs ranging from 1.11 to 1.17 (95% CI: 1.02–1.20, 1.03–1.22, 1.05–1.24, and 1.08–1.26 separately) per a 10 μg/m3 change in PM2.5 concentration. Our study contributes to the small body of knowledge regarding the association between in utero exposure to air pollution and CHDs, but confirmation of these associations will be needed in future studies. PMID:26883477

  18. Interstitial deletion of 14q24.3-q32.2 in a male patient with plagiocephaly, BPES features, developmental delay, and congenital heart defects

    DEFF Research Database (Denmark)

    Cingöz, Sultan; Bache, Iben; Bjerglund, Lise;

    2011-01-01

    with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23¿Mb....... Based on genotype-phenotype comparisons of the 10 previously published patients and the present case, we suggest that the shortest regions for deletion overlap may include candidate genes for speech impairment, mental retardation, and hypotonia....

  19. The etiology of congenital cardiovascular malformations: observations on genetic risks with implications for further birth defects research.

    Science.gov (United States)

    Ferencz, C

    1985-01-01

    The previously reported hypothesis of an etiologic association of heart and blood abnormalities was further investigated in a population based study of congenital cardiovascular malformations (CCVM). Three presumed genetic risk factors (CCVM in parents and siblings, heritable blood disorders and maternal mitral valve prolapse) were found to occur significantly more often in cases than in normal controls, irrespective of the presence in the proband of chromosomal or Mendelian lesions. This suggests a specific etiologic origin of the CCVM; the excess of maternal risk components raises the possibility of X-linked inheritance. Observed constellations of heart, blood, and connective tissue disorders within members of a nuclear family may indicate variability of phenotypic expression of a similar biosynthetic defect. A schematic model of abnormal cardiogenesis is presented which supports the above observations with the results of biochemical studies on endothelium, platelets and collagen disorders. It is suggested that teratogenesis results from subtle interactions of genetic sequelae with extrinsic metabolic and xenobiotic effects. This conclusion harmonizes with those derived from experimental animal studies. PMID:2937867

  20. 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)

  1. Channelized relevance vector machine as a numerical observer for cardiac perfusion defect detection task

    Science.gov (United States)

    Kalayeh, Mahdi M.; Marin, Thibault; Pretorius, P. Hendrik; Wernick, Miles N.; Yang, Yongyi; Brankov, Jovan G.

    2011-03-01

    In this paper, we present a numerical observer for image quality assessment, aiming to predict human observer accuracy in a cardiac perfusion defect detection task for single-photon emission computed tomography (SPECT). In medical imaging, image quality should be assessed by evaluating the human observer accuracy for a specific diagnostic task. This approach is known as task-based assessment. Such evaluations are important for optimizing and testing imaging devices and algorithms. Unfortunately, human observer studies with expert readers are costly and time-demanding. To address this problem, numerical observers have been developed as a surrogate for human readers to predict human diagnostic performance. The channelized Hotelling observer (CHO) with internal noise model has been found to predict human performance well in some situations, but does not always generalize well to unseen data. We have argued in the past that finding a model to predict human observers could be viewed as a machine learning problem. Following this approach, in this paper we propose a channelized relevance vector machine (CRVM) to predict human diagnostic scores in a detection task. We have previously used channelized support vector machines (CSVM) to predict human scores and have shown that this approach offers better and more robust predictions than the classical CHO method. The comparison of the proposed CRVM with our previously introduced CSVM method suggests that CRVM can achieve similar generalization accuracy, while dramatically reducing model complexity and computation time.

  2. MR tomography in cardiac septum defects; Model investigations for parameter optimization. Magnetresonanz-Tomographie bei Herzscheidewanddefekten; Modelluntersuchungen zur Parameteroptimierung

    Energy Technology Data Exchange (ETDEWEB)

    Sandring, K.H. (Inst. fuer Roentgendiagnostik, Humboldt Univ., Berlin (Germany)); Baumgart, T. (Universitaetsklinik fuer Innere Medizin, Humboldt Univ., Berlin (Germany))

    1993-07-01

    Various flow phenomena can occur in MR tomography of the heart. In the present study the influence of various examination parameters on the imaging of flow phenomena behind cardiac septum defects was investigated by means of a model. In the examination by fast field echo sequence (FFE) the contrast between poststenotic jet and surrounding area was most pronounced if short echo times (TE 10 ms), a narrow flip angle (d=10 ) and layers of minor thickness (d=5 mm) had been selected. The number of acquisitions and the flow compensation exercised only slight influence on contrast. Our results point to the possibility of obtaining quantitative information on cardiac septum defects if the influence of examination parameters on the imaging of flow phenomena is accurately known. (orig.)

  3. Correlation of 64 row MDCT, echocardiography and cardiac catheterization angiography in assessment of pulmonary arterial anatomy in children with cyanotic congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Chandrashekhar, Guruprasadh, E-mail: cguruprasadh@gmail.com [Departments of Radiodiagnosis and Imaging, Post Graduate Institute of Medical Education and Research, Sector-12, Chandigarh 160012 (India); Sodhi, Kushaljit Singh, E-mail: sodhiks@gmail.com [Departments of Radiodiagnosis and Imaging, Post Graduate Institute of Medical Education and Research, Sector-12, Chandigarh 160012 (India); Saxena, Akshay Kumar, E-mail: fatakshay@yahoo.com [Departments of Radiodiagnosis and Imaging, Post Graduate Institute of Medical Education and Research, Sector-12, Chandigarh 160012 (India); Rohit, Manoj Kumar, E-mail: rohitmanoj@gmail.com [Department of Pediatric Cardiology, Post Graduate Institute of Medical Education and Research, Sector-12, Chandigarh 160012 (India); Khandelwal, Niranjan, E-mail: khandelwaln@hotmail.com [Departments of Radiodiagnosis and Imaging, Post Graduate Institute of Medical Education and Research, Sector-12, Chandigarh 160012 (India)

    2012-12-15

    Objective: To study the correlation of low-dose 64-row multi-detector computed tomography (MDCT) with echocardiography and cardiac catheterization angiography (CCA) in the assessment of pulmonary arterial anatomy in children with cyanotic congenital heart disease (CCHD). Materials and methods: This prospective study included 105 children (74 males, 31 females) with CCHD, in the age group of 2 months to 20 years, who underwent 64-row MDCT examination (low-dose CT protocol), echocardiography and CCA for the assessment of pulmonary arteries, including visualization, presence of confluence, stenosis and collaterals. Statistical analysis was performed using the non-parametric statistical analysis test to evaluate the concordance or discordance between echocardiography, MDCT and CCA. Results: 64-row MDCT detected significantly more main and branch pulmonary arteries, patent pulmonary confluences, and more cases of pulmonary artery stenosis. CCA detected more major aorto-pulmonary collaterals than MDCT, whereas echocardiography failed to identify these major aorto-pulmonary collaterals. The effective CT radiation dose to patients less than 2 years of age was in the range of 0.7–2.5 mSv, where as the dose in patients more than 2 years of age ranged from that of 2.1 to 4.2 mSv, which is much less than the radiation dose reported in cardiac catheterization angiography. Conclusion: In cases where cardiac MRI cannot be performed, or is not sufficiently informative, low-dose 64-row MDCT correlates well with CCA and can provide adequate information about pulmonary arterial anatomy in children with cyanotic congenital heart disease, and can replace invasive cardiac catheterization angiography with markedly reduced radiation dosage to the patient.

  4. Correlation of 64 row MDCT, echocardiography and cardiac catheterization angiography in assessment of pulmonary arterial anatomy in children with cyanotic congenital heart disease

    International Nuclear Information System (INIS)

    Objective: To study the correlation of low-dose 64-row multi-detector computed tomography (MDCT) with echocardiography and cardiac catheterization angiography (CCA) in the assessment of pulmonary arterial anatomy in children with cyanotic congenital heart disease (CCHD). Materials and methods: This prospective study included 105 children (74 males, 31 females) with CCHD, in the age group of 2 months to 20 years, who underwent 64-row MDCT examination (low-dose CT protocol), echocardiography and CCA for the assessment of pulmonary arteries, including visualization, presence of confluence, stenosis and collaterals. Statistical analysis was performed using the non-parametric statistical analysis test to evaluate the concordance or discordance between echocardiography, MDCT and CCA. Results: 64-row MDCT detected significantly more main and branch pulmonary arteries, patent pulmonary confluences, and more cases of pulmonary artery stenosis. CCA detected more major aorto-pulmonary collaterals than MDCT, whereas echocardiography failed to identify these major aorto-pulmonary collaterals. The effective CT radiation dose to patients less than 2 years of age was in the range of 0.7–2.5 mSv, where as the dose in patients more than 2 years of age ranged from that of 2.1 to 4.2 mSv, which is much less than the radiation dose reported in cardiac catheterization angiography. Conclusion: In cases where cardiac MRI cannot be performed, or is not sufficiently informative, low-dose 64-row MDCT correlates well with CCA and can provide adequate information about pulmonary arterial anatomy in children with cyanotic congenital heart disease, and can replace invasive cardiac catheterization angiography with markedly reduced radiation dosage to the patient.

  5. Clinical features and risk assessment for cardiac surgery in adult congenital heart disease: Three years at a single Japanese center

    Directory of Open Access Journals (Sweden)

    Satoshi Kurokawa

    2014-04-01

    Conclusion: Cardiac surgery could be safely performed in most ACHD cases. Exercise tolerance testing can be useful in identifying patients at high risk of mortality or major complications. BNP can be valuable in predicting poor outcomes after cardiac surgery.

  6. 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.

  7. Recent progress of pediatric cardiac surgery in China

    Institute of Scientific and Technical Information of China (English)

    WU Kai-hong; L(U) Xiao-dong; LIU Ying-long

    2006-01-01

    @@ Pediatric cardiac surgery in China has made great progress since the first successful open heart operation for correction of ventricular septal defect (VSD) with an artificial heart-lung machine in 1958.1 In recent years, the state has paid much attention to both the basic research and the primary,secondary and tertiary prevention of congenital heart disease.

  8. Intellectual Development of Infants, Children and Adolescents with Congenital Heart Disease

    Science.gov (United States)

    Wray, Jo

    2006-01-01

    Cardiac disease is the most common congenital defect in children, affecting between 3 and 10 in every 1000 live births. While significant advances in medical and surgical management have resulted in increasing numbers of survivors, it is also recognized that there is a growing population of children living with neurological impairment and lowered…

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

    Directory of Open Access Journals (Sweden)

    Mohamed Abdel Megied Abo El-Magd

    2013-04-01

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

  10. Assessing sociodemographic differences (or lack thereof) in prenatal diagnosis of congenital heart defects: a population-based study

    Science.gov (United States)

    Khoshnood, Babak; Lelong, Nathalie; Andrieu, Thibaut; Houyel, Lucile; Bonnet, Damien; Jouannic, Jean-Marie; Goffinet, François

    2016-01-01

    Objectives Our main objective was to assess sociodemographic differences in the probability of prenatal diagnosis of congenital heart defects (CHD); we also looked at differences in termination of pregnancy for fetal anomaly (TOPFA). Design Prospective cohort observational study. Setting Population-based cohort of CHD (live births, TOPFA, fetal deaths) born to women residing in the Greater Paris area (Paris and its surrounding suburbs, N=317 538 total births). Participants 2867 cases of CHD, including 2348 (82%) live births, 466 (16%) TOPFA and 53 (2%) fetal deaths. Primary and secondary outcome measures Differences in the probability of prenatal diagnosis by maternal occupation, geographic origin and place of residence; differences in the probability of TOPFA. Results 29.1% (95% CI 27.5% to 30.8%) of all CHD were prenatally diagnosed. Probability of prenatal diagnosis was similar by maternal occupation, geographic origin and place of residence. In contrast, there were substantial differences in the probability of TOPFA by maternal geographic origin; differences by maternal occupation and place of residence were generally smaller and not statistically significant. Conclusions Our findings suggest that an appropriate health system organisation aimed at providing universal, reimbursed specialised services to all women can provide comparable access to prenatal diagnosis for all sociodemographic groups. In contrast, we found substantial differences in TOPFA for women of different geographic origins, which may reflect women's preferences that should be respected, but that can nonetheless lead to the situation where families with fewer resources will be disproportionately responsible for care of newborns with more severe forms of CHD. PMID:27009144

  11. Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations

    Directory of Open Access Journals (Sweden)

    Juang Jyh-Ming

    2009-02-01

    Full Text Available Abstract The Brugada syndrome is characterized by ST segment elevation in the right precodial leads V1-V3 on surface ECG accompanied by episodes of ventricular fibrillation causing syncope or even sudden death. The molecular and cellular mechanisms that lead to Brugada syndrome are not yet completely understood. However, SCN5A is the most well known responsible gene that causes Brugada syndrome. Until now, more than a hundred mutations in SCN5A responsible for Brugada syndrome have been described. Functional studies of some of the mutations have been performed and show that a reduction of human cardiac sodium current accounts for the pathogenesis of Brugada syndrome. Here we reported three novel SCN5A mutations identified in patients with Brugada syndrome in Taiwan (p.I848fs, p.R965C, and p.1876insM. Their electrophysiological properties were altered by patch clamp analysis. The p.I848fs mutant generated no sodium current. The p.R965C and p.1876insM mutants produced channels with steady state inactivation shifted to a more negative potential (9.4 mV and 8.5 mV respectively, and slower recovery from inactivation. Besides, the steady state activation of p.1876insM was altered and was shifted to a more positive potential (7.69 mV. In conclusion, the SCN5A channel defect related to Brugada syndrome might be diverse but all resulted in a decrease of sodium current.

  12. Major congenital defects. Relevant risk factors. Cienfuegos. 2000-2005. Malformaciones congénitas mayores. Factores de riesgo relevantes. Cienfuegos. 2000-2005.

    Directory of Open Access Journals (Sweden)

    Gladis Barberis Pérez

    2008-04-01

    Full Text Available

    Background: Major congenital defects have an impact on perinatal mortality and morbidity with economic and social consequences. Objective: To determine the relevant risk factors linked to the occurrence of congenital defects in Cienfuegos between 2000 and 2005. Methods: A case-control study was carried out. Women with fetus or newborns with major congenital defects formed the case group (255 while the control group consisted of a similar number of healthy children selected each year by a randomized simple sample. The variables gathered by the Cuban Congenital Defects Records were studied. Chi-Square method was used with 95% of accuracy and a reliance rate of 95%; logistic regression was used with the Wald test. Results: There was a predominance of Central Nervous System defects (28, 6%. The most relevant risk factors were a history of congenital defects, smoking habits, and acute infection during the first three months, as well as belong to the third birth on. Conclusion: The most clinical relevant risks factors were the congenital defect history and the acute infection during the firs three months.

    Fundamento: Las malformaciones congénitas mayores influyen en la morbimortalidad perinatal, lo que tiene implicaciones sociales y económicas. Objetivo: Determinar los factores de riesgo relevantes, asociados a la aparición de malformaciones congénitas mayores, en la provincia Cienfuegos en el período 2000-2005. Métodos: Se realizó un estudio de casos y controles no pareados. Las mujeres registradas con fetos o recién nacidos con malformaciones congénitas mayores, constituyeron el grupo de casos (255, mientras que el grupo control estuvo conformado por un número similar de niños sanos, seleccionados en cada año, por un muestreo aleatorio simple. Se estudiaron las variables recogidas en el modelo

  13. 1281 cases of totally thoracoscopic cardiac surgery for congenital heart diseases%全胸腔镜下先天性心脏病手术1281例

    Institute of Scientific and Technical Information of China (English)

    徐学增; 石广永; 陈亚武; 王永祥; 李凯; 俞世强

    2012-01-01

    目的 总结全胸腔镜下先天性心脏病手术的经验.方法 2000年9月至2011年11月,全腔腔镜下先天性心脏病手术1281例,其中房间隔缺损1016例,室间隔缺损110例,房室管畸形61例,法洛三联症33例,部分肺静脉异位引流24例,肺动脉瓣狭窄12例,动脉导管未闭9例,三房心8例,无顶冠状静脉窦综合征7例,完全肺静脉异位引流1例.术时右侧胸壁3孔,股动脉、静脉插管(或右房、股静脉分别插上、下腔静脉插管)建立体外循环,阻断钳阻断升主动脉,冷晶体(含血)心脏停搏液顺行灌注保护心肌.结果 手术均获成功,体外循环(42±16) min,升主动脉阻断(21 ±9)min,术后呼吸机辅助(4.1±1.5)h,术后住院(7.1±1.4)天.术后35例发生并发症,右侧气胸16例,胸腔穿刺1次治愈;皮下气肿12例,胸带加压包扎治愈;右腋下切口液化3例、腹股沟切口液化4例,伤口延期愈合.全组术后4~8天超声心动图示畸形矫治满意.914例术后随访3个月~9年,心功能Ⅰ~Ⅱ级.结论 全腔镜下先天性心脏病手术安全可靠,创伤小,患儿(者)恢复快.%Objective To summarize the experience of totally thoracoscopic operation for congenital heart diseases.Methods From September 2000 to November 2011,1281 patients with congenital heart disease,including 1016 cases of atrial septal defect,110 cases of ventricular septal defect,61 cases of atrioventricular tube defects,33 cases of tetralogy of Fallot,24 cases of part anomalous pulmonary venous connection,12 cases of pulmonary valve stenosis,9 cases of patent ductus arteriosus,8 case of triatriatum,7 cases of unroofed coronary sinus syndrome,and 1 case of total anomalous pulmonary venous connection were treated totally under thoracoscope.Surgical procedures were performed through 3 troears inserted at the right chest wall,and catheters were placed in the right femoral artery and vein ( or in the right atrium,femoral vein) to set up extracorporeal circulation

  14. Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg in conjunction with a known MYPBC3 variant

    Directory of Open Access Journals (Sweden)

    Quinn S. Wells

    2011-08-01

    Full Text Available Idiopathic dilated cardiomyopathy (DCM is a primary myocardial disorder characterized by ventricular chamber enlargement and systolic dysfunction. Twenty to fifty percent of idiopathic DCM cases are thought to have a genetic cause. Of more than 30 genes known to be associated with DCM, rare variants in the VCL and MYBPC3 genes have been reported in several cases of DCM. In this report, we describe a family with DCM and congenital abnormalities who carry a novel missense mutation in the VCL gene. More severely affected family members also possess a second missense variant in MYBPC3, raising the possibility that this variant may be a disease modifier. Intere - stingly, many of the affected individuals also have congenital defects, including two with bicuspid aortic valve with aortic regurgitation. We discuss the implications of the family history and genetic information on management of at-risk individuals with aortic regurgitation.

  15. Mental retardation, congenital heart defect, cleft palate, short stature, and facial anomalies: A new X-linked multiple congenital anomalies/mental retardation syndrome: Clinical description and molecular studies

    Energy Technology Data Exchange (ETDEWEB)

    Hamel, B.C.J.; Mariman, E.C.M.; Beersum, S.E.C. van; Ropers, H.H. [University Hospital, Nijmegen (Netherlands); Schoonbrood-Lenssen, A.M.J. [Institute for the Mentally Retarded, Echt (Netherlands)

    1994-07-15

    We report on two brothers and their two maternal uncles with severe mental retardation, congenital heart defect, cleft or highly arched palate, short stature and craniofacial anomalies consisting of microcephaly, abnormal ears, bulbous nose, broad nasal bridge, malar hypoplasia, and micro-gnathia. Three of the four patients died at an early age. The mother of the two brothers had an atrial septal defect. She is assumed to be manifesting carrier of a mutant gene, which is expressed in her two sons and two brothers. By multipoint linkage analysis it is found that the most likely location of the responsible gene is the pericentromeric region Xp21.3-q21.3 with DMD and DXS3 as flanking markers. Maximum information is obtained with marker DXS453 (Z = 1.20 at {theta} = 0.0). 24 refs., 12 figs., 1 tab.

  16. Maternal smoking in pregnancy and risk for congenital malformations

    DEFF Research Database (Denmark)

    Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K.; Jensen, Allan

    2014-01-01

    registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized.......e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95......% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid...

  17. Classification of Atrial Septal Defect and Ventricular Septal Defect with Documented Hemodynamic Parameters via Cardiac Catheterization by Genetic Algorithms and Multi-Layered Artificial Neural Network

    Directory of Open Access Journals (Sweden)

    Mustafa Yıldız

    2012-08-01

    Full Text Available Introduction: We aimed to develop a classification method to discriminate ventricular septal defect and atrial septal defect by using severalhemodynamic parameters.Patients and Methods: Forty three patients (30 atrial septal defect, 13 ventricular septal defect; 26 female, 17 male with documentedhemodynamic parameters via cardiac catheterization are included to study. Such parameters as blood pressure values of different areas,gender, age and Qp/Qs ratios are used for classification. Parameters, we used in classification are determined by divergence analysismethod. Those parameters are; i pulmonary artery diastolic pressure, ii Qp/Qs ratio, iii right atrium pressure, iv age, v pulmonary arterysystolic pressure, vi left ventricular sistolic pressure, vii aorta mean pressure, viii left ventricular diastolic pressure, ix aorta diastolicpressure, x aorta systolic pressure. Those parameters detected from our study population, are uploaded to multi-layered artificial neuralnetwork and the network was trained by genetic algorithm.Results: Trained cluster consists of 14 factors (7 atrial septal defect and 7 ventricular septal defect. Overall success ratio is 79.2%, andwith a proper instruction of artificial neural network this ratio increases up to 89%.Conclusion: Parameters, belonging to artificial neural network, which are needed to be detected by the investigator in classical methods,can easily be detected with the help of genetic algorithms. During the instruction of artificial neural network by genetic algorithms, boththe topology of network and factors of network can be determined. During the test stage, elements, not included in instruction cluster, areassumed as in test cluster, and as a result of this study, we observed that multi-layered artificial neural network can be instructed properly,and neural network is a successful method for aimed classification.

  18. Deletions in 14q24.1q24.3 are associated with congenital heart defects, brachydactyly, and mild intellectual disability.

    Science.gov (United States)

    Oehl-Jaschkowitz, Barbara; Vanakker, Olivier M; De Paepe, Anne; Menten, Björn; Martin, Thomas; Weber, Georg; Christmann, Alexander; Krier, Romain; Scheid, Simone; McNerlan, Susan E; McKee, Shane; Tzschach, Andreas

    2014-03-01

    Interstitial deletions of chromosome band 14q24.1q24.3 are apparently very rare. We report on three unrelated patients with overlapping de novo deletions of sizes 5.4, 2.8, and 2.3 Mb in this region. While some clinical problems such as intestinal malrotation, cryptorchidism, and ectopic kidney were only observed in single patients, all three patients had mild intellectual disability, congenital heart defects (truncus arteriosus, pulmonary atresia, atrial septal defect, and/or ventricular septal defect), brachydactyly, hypertelorism, broad nasal bridge, and thin upper lips. Likely haploinsufficiency of one or several of the 19 genes in the common deleted interval (ACTN1, DCAF5, EXD2, GALNTL1, ERH, SLC39A9, PLEKHD1, CCDC177, KIAA0247, LOC100289511, SRSF5, SLC10A1, SMOC1, SLC8A3, ADAM21P1, COX16, SYNJ2BP, SYNJ2BP-COX16, ADAM21) was responsible for these manifestations, but apart from SMOC1, mutations in which cause autosomal recessive Waardenburg anophthalmia syndrome, and ACTN1, mutations in which are associated with congenital macrothrombocytopenia, no disease associations have so far been reported for the other genes. Functional studies and a systematic search for mutations or chromosome aberrations in this region will elucidate the role of individual genes in the clinical manifestations and will provide insight into the underlying biological mechanisms. PMID:24357125

  19. PHACE syndrome and congenitally absent thyroid gland at MR imaging.

    Science.gov (United States)

    Mamlouk, Mark D; Yu, John-Paul J; Asch, Sarah; Mathes, Erin F

    2016-01-01

    PHACE syndrome is a rare neurocutaneous disorder characterized by posterior fossa malformations, hemangiomas, arterial anomalies, cardiac defects, and abnormalities of the eye. Thyroid disorders associated with PHACE syndrome have been described, although there are limited reports of this rare occurrence. We report a case of PHACE syndrome with congenital hypothyroidism in an infant, for which absent thyroid gland was diagnosed at magnetic resonance imaging. PMID:26995578

  20. Surgery for Primary Cardiac Tumors in Children Early and Late Results in a Multicenter European Congenital Heart Surgeons Association Study

    NARCIS (Netherlands)

    Padalino, Massimo A.; Vida, Vladimiro L.; Boccuzzo, Giovanna; Tonello, Marco; Sarris, George E.; Berggren, Hakan; Comas, Juan V.; Di Carlo, Duccio; Di Donato, Roberto M.; Ebels, Tjark; Hraska, Viktor; Jacobs, Jeffrey P.; Gaynor, J. William; Metras, Dominique; Pretre, Rene; Pozzi, Marco; Rubay, Jean; Sairanen, Heikki; Schreiber, Christian; Maruszewski, Bohdan; Basso, Cristina; Stellin, Giovanni

    2012-01-01

    Background-To evaluate indications and results of surgery for primary cardiac tumors in children. Methods and Results-Eighty-nine patients aged Conclusions-Surgery for primary cardiac tumors in children has good early and long-term outcomes, with low recurrence rate. Rhabdomyomas are the most freque

  1. Congenital Abdominal Wall Defects

    DEFF Research Database (Denmark)

    Risby, Kirsten; Jakobsen, Marianne Skytte; Qvist, Niels

    2016-01-01

    related complications; and post-discharge gastrointestinal surgery. RESULTS: GDM was placed in 34 (gastroschisis=27, omphalocele=7) patients during the study period. Complete closure of the fascia was obtained in one patient with omphalocele and in 22 patients with gastroschisis. Mesh related surgical...

  2. Fetal cardiac interventions: clinical and experimental research.

    Science.gov (United States)

    Yuan, Shi-Min; Humuruola, Gulimila

    2016-01-01

    Fetal cardiac interventions for congenital heart diseases may alleviate heart dysfunction, prevent them evolving into hypoplastic left heart syndrome, achieve biventricular outcome and improve fetal survival. Candidates for clinical fetal cardiac interventions are now restricted to cases of critical aortic valve stenosis with evolving hypoplastic left heart syndrome, pulmonary atresia with an intact ventricular septum and evolving hypoplastic right heart syndrome, and hypoplastic left heart syndrome with an intact or highly restrictive atrial septum as well as fetal heart block. The therapeutic options are advocated as prenatal aortic valvuloplasty, pulmonary valvuloplasty, creation of interatrial communication and fetal cardiac pacing. Experimental research on fetal cardiac intervention involves technical modifications of catheter-based cardiac clinical interventions and open fetal cardiac bypass that cannot be applied in human fetuses for the time being. Clinical fetal cardiac interventions are plausible for midgestation fetuses with the above-mentioned congenital heart defects. The technical success, biventricular outcome and fetal survival are continuously being improved in the conditions of the sophisticated multidisciplinary team, equipment, techniques and postnatal care. Experimental research is laying the foundations and may open new fields for catheter-based clinical techniques. In the present article, the clinical therapeutic options and experimental fetal cardiac interventions are described. PMID:27279868

  3. Defeitos congênitos diagnosticados em ruminantes na Região Sul do Rio Grande do Sul Congenital defects in ruminants in southern Brazil.

    Directory of Open Access Journals (Sweden)

    Clairton Marcolongo-Pereira

    2010-10-01

    ádicos. Em bubalinos todas as malformações diagnosticadas são hereditárias (artrogripose, miotonia e dermatose mecânico-bolhosa ou suspeitas de serem hereditárias (albinismo, megaesôfago e hidranencefalia/hipoplasia cerebelar. Concluiu-se que os defeitos congênitos esporádicos têm pouca importância nas três espécies e que defeitos congênitos de causas ambientais, apesar de pouco freqüentes, podem trazer prejuízos econômicos importantes em determinadas regiões ou estabelecimentos. As doenças hereditárias são importantes não só pela mortalidade mas, também, pela possibilidade de disseminação de genes indesejáveis nas diferentes raças. Em bubalinos a alta frequência de doenças hereditárias na raça Murrah foi atribuída a alta consanguinidade do rebanho brasileiro. Medidas de controle devem ser tomadas para evitar-se a contínua disseminação, principalmente dos genes recessivos, em bubalinos e bovinos.Congenital defects in cattle, sheep and buffalo were studied through a review of necropsy files of the Regional Diagnostic Laboratory of the Veterinary Faculty at the Federal University of Pelotas between 1978 and 2009. The occurrence of congenital defects in cattle, sheep and buffalo were 0.88%, 0.36%, and 7.54%, respectively, from all specimens received. Cattle congenital defects of undetermined etiology represented 45.83% of the congenital defects, known hereditary and probably hereditary diseases represented 6.25%, and 29.16%, respectively, and defects associated to environmental factors represented 16.66%. In cattle, of the 48 congenital defects observed 21 (43.75% affected the skeletal system (chondrodysplasia, scoliosis, lateral deviation of the mandible, palatoschisis and unclassified defect, nine (18.75% affected the central nervous system (hypoplasia of olfatory and frontal lobes, cerebellar cortical degeneration, spina bifida, congenital hypomielinogenesis, hereditary hypermetria, cerebellar hypoplasia, and pachygiria, nine (18.75% the

  4. Early Developmental Assessment of Children with Major Non-Cardiac Congenital Anomalies Predicts Development at the Age of 5 Years

    Science.gov (United States)

    Mazer, Petra; Gischler, Saskia J.; van der Cammen-van Zijp, Monique H. M.; Tibboel, Dick; Bax, Nicolaas M. A.; Ijsselstijn, Hanneke; van Dijk, Monique; Duivenvoorden, Hugo J.

    2010-01-01

    Aim: The aim of this study was to evaluate cognitive and motor development in children with major congenital anomalies and the predictability of development at age 5 years. Method: A prospective, longitudinal follow-up study was undertaken. The Dutch version of the Bayley Scales of Infant Development--Mental Developmental Index (MDI) and…

  5. Congenital heart disease and chromossomopathies detected by the karyotype

    Directory of Open Access Journals (Sweden)

    Patrícia Trevisan

    2014-06-01

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

  6. Genetics of congenital hypothyroidism

    OpenAIRE

    Park, S.; Chatterjee, V

    2005-01-01

    Congenital hypothyroidism is the most common neonatal metabolic disorder and results in severe neurodevelopmental impairment and infertility if untreated. Congenital hypothyroidism is usually sporadic but up to 2% of thyroid dysgenesis is familial, and congenital hypothyroidism caused by organification defects is often recessively inherited. The candidate genes associated with this genetically heterogeneous disorder form two main groups: those causing thyroid gland dysgenesis and those causin...

  7. Severe mitral regurgitation due to an extraordinary heart defect.

    Science.gov (United States)

    García-Ropero, Álvaro; Cortés García, Marcelino; Aldamiz Echevarría, Gonzalo; Farré Muncharaz, Jerónimo

    2016-09-01

    A previously non-described cause of mitral regurgitation is presented. An asymptomatic 50-year old male who was casually diagnosed of mitral valve Barlow's disease underwent cardiac surgery due to severe mitral regurgitation. In the operating theatre, a longitudinal fissure of 1.5-2.0 cm length, along the posterior mitral leaflet, was found responsible for the insufficiency. This defect had features of a potential congenital origin and it was successfully repaired with direct suture. Whether it is an atypical mitral cleft, a variation of Barlow's morphology spectrum or a new congenital heart defect remains unclear. PMID:27217424

  8. [Congenital Esophageal Atresia].

    Science.gov (United States)

    Suzuki, Makoto; Kuwano, Hiroyuki

    2015-07-01

    In this report, we describe the esophageal atresia in terms of current surgical management on the basis of our experience and literatures. Traditionally, infants with esophageal atresia have presented shortly after birth because of an inability to pass an orogastric tube, respiratory distress, or an inability to tolerate feeding. And also, an isolated trachea-esophageal fistula (TEF) usually cases coughing, recurrent pneumonia, or choking during feedings. To ignore these symptoms is to risk a delayed diagnosis. The condition may be associated with other major congenital anomalies such as those seen in the vertebral, anal, cardiac, tracheo-esophageal, renal/radial (VACTER) association, or it may be an isolated defect. Therapeutic strategies for esophageal atresia are a prevention of pulmonary complication by TEF closing and an early establishment of enteral alimentation. We promptly repair healthy infants without performing a gastrostomy and delay repair in infants with high-risk factors such as associated severe cardiac anomaly and respiratory insufficiency. Esophageal atresia has been classically approached through a thoracotomy. The disadvantages of such a thoracotomy have been recognized for a long time, for example winged scapula, elevation of fixation of shoulder, asymmetry of the chest wall, rib fusion, scoliosis, and breast and pectoral muscle maldevelopment. To avoid such disadvantages, thoracoscopic repair was recently reported. PMID:26197921

  9. Hybrid Procedure for Pulmonary Atresia with Ventricular Septal Defect in a Low Birth Weight Neonate

    OpenAIRE

    Park, Ji Young; Seo, Dong-Man; Shin, Hong Ju; Kim, Soo-Jin; Son, Jae Sung

    2013-01-01

    Cardiac surgery in neonates with congenital heart disease has progressed dramatically in the past three decades. However, low-birth-weight neonates with congenital heart disease continue to challenge the intellectual and technical skills of healthcare professionals. We present a case of a low-birth-weight neonate with pulmonary atresia and a ventricular septal defect, in whom palliation was achieved with a right ventricular outflow tract stent using a hybrid procedure.

  10. Role of extracellular matrix and mitochondria related genes in determining cardiac defects in Down syndrome

    OpenAIRE

    Cicatiello, Rita

    2015-01-01

    Mitochondrial dysfunction, which is consistently observed in Down syndrome (DS), is suspected to worsen mental retardation and congenital cardiopathies in DS subjects, as well as to determine other phenotypic abnormalities, such as Alzheimer's disease, type 2 diabetes, obesity, and hypertrophic cardiopathy. As the heart is one of the main targets of DS, we have analyzed gene expression of DS fetal hearts demonstrating a global downregulation of nuclear encoded mitochondrial genes (NEMGs) ...

  11. Causes of Congenital Malformations

    OpenAIRE

    J Gordon Millichap

    2002-01-01

    The genetic epidemiology of congenital malformations (CMs) and interaction with environmental causes are reviewed from the Arkansas Center for Birth Defects, Arkansas Children’s Hospital, Little Rock, AS.

  12. 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

  13. Malformações cardíacas congênitas em necropsias pediátricas: características, associações e prevalência Congenital cardiac malformations in pediatric necropsies: characteristics, associations and prevalence

    Directory of Open Access Journals (Sweden)

    Dinaldo de Lima Leite

    2010-03-01

    second cause of death in children younger than one year, with cardiovascular defects being responsible for 39.4% of these deaths. OBJECTIVES: To establish the prevalence and the characteristics of the congenital cardiac malformations in pediatric necropsies performed in Hospital Regional da Asa Sul, Brasília, DF, Brazil, from January 1996 to December 2007. METHODS: This is a descriptive, cross-sectional study that reviewed 1,591 necropsies performed from January 1996 to December 2007 and found 189 (11.9% with congenital cardiac malformations, included in this study. RESULTS: The cardiac abnormalities were observed mainly in the group of live births (117/61.9%, followed by the stillbirths (35/18.5%, the infant group (30/15.9% and the preschoolers' group (7/3.7%, with no cases identified among school-aged children. The main alterations detected were: interatrial communication in 96 patients (27%, interventricular communication in 66 patients (18.5% and patent ductus arteriosus in 51 (14.3%, with no predominance of either sex. In 133 patients (70.4%, the cardiopathies were multiple and in 96 (50.8% they were associated with anomalies in other organs and systems; among these, 45 (23.8% presented cardiopathies as syndrome components, especially trisomies, at all age ranges. CONCLUSIONS: The results of the present study show a high prevalence of congenital cardiac anomalies in our country and distribution and association that were similar to the ones observed in developed countries. The high mortality associated to such anomalies highlights the need for more comprehensive research in order to identify the risk factors and seek the primary prevention of some of these defects.

  14. 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 ...

  15. 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.

  16. Impact of Down syndrome on the surgical treatment of congenital heart defects%Down综合征对先天性心脏病外科治疗的影响

    Institute of Scientific and Technical Information of China (English)

    张伟志; 杨一峰; 黄灿; 赵天力

    2012-01-01

    Objective: To evaluate the impact of Down syndrome (DS) on surgical management in patients with congenital heart defects (CHD).Methods: We retrospectively analyzed the clinical data from 35 children with DS and CHD, who underwent cardiac surgery between 2004 and 2009. The data on surgical mortality, complications and follow-up results are emphasized.Results: All of the patients underwent primary repair. One child (2.9%) with DS and complete atrioventricular septal defect (CAVSD) died early postoperatively because of pulmonary hypertension. Two patients (5.7%) had low cardiac output syndrome, and 15 (42.9%) suffered pulmonary complications. III° atrioventricular block (AVB) occurred in 4 patients (11.5%). Thirty children who were followed up 10 months to 6 years [(3.8 ±1.1) years] are in NYHA class I or II. There were no reoperations or later death.Conclusion: CHD in DS children can be repaired with a low risk of mortality, although a high incidence of severe infections and III ° AVB can result in a complicated postoperative course. The results of mid-term follow up are satisfactory.%目的:评估Down综合征对先天性心脏病手术治疗的影响.方法:回顾性分析于2004年至2009年行心脏手术治疗的35例合并先天性心脏病的Down综合征患儿的临床资料,总结此类患儿的手术死亡率、并发症和随访结果.结果:所有患儿均接受一期手术修复.术后早期死亡1例(2.9%);低心排出量综合征2例(5.7%);肺部并发症15例(42.9%).术后早期Ⅲ°房室传导阻滞4例(11.4%).对30例随访10个月~6年[(3.8±1.1)年],无远期死亡和再次手术病例,存活者心功能为NYHA Ⅰ或Ⅱ级.结论:Down综合征增加了先天性心脏病手术的早期风险性,但不增加死亡率,术后中期生存状态良好.

  17. Associated congenital anomalies among cases with Down syndrome.

    Science.gov (United States)

    Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule

    2015-12-01

    Down syndrome (DS) is the most common congenital anomaly widely studied for at least 150 years. However, the type and the frequency of congenital anomalies associated with DS are still controversial. Despite prenatal diagnosis and elective termination of pregnancy for fetal anomalies, in Europe, from 2008 to 2012 the live birth prevalence of DS per 10,000 was 10. 2. The objectives of this study were to examine the major congenital anomalies occurring in infants and fetuses with Down syndrome. The material for this study came from 402,532 consecutive pregnancies of known outcome registered by our registry of congenital anomalies between 1979 and 2008. Four hundred sixty seven (64%) out of the 728 cases with DS registered had at least one major associated congenital anomaly. The most common associated anomalies were cardiac anomalies, 323 cases (44%), followed by digestive system anomalies, 42 cases (6%), musculoskeletal system anomalies, 35 cases (5%), urinary system anomalies, 28 cases (4%), respiratory system anomalies, 13 cases (2%), and other system anomalies, 26 cases (3.6%). Among the cases with DS with congenital heart defects, the most common cardiac anomaly was atrioventricular septal defect (30%) followed by atrial septum defect (25%), ventricular septal defect (22%), patent ductus arteriosus (5%), coarctation of aorta (5%), and tetralogy of Fallot (3%). Among the cases with DS with a digestive system anomaly recorded, duodenal atresia (67%), Hirschsprung disease (14%), and tracheo-esophageal atresia (10%) were the most common. Fourteen (2%) of the cases with DS had an obstructive anomaly of the renal pelvis, including hydronephrosis. The other most common anomalies associated with cases with DS were syndactyly, club foot, polydactyly, limb reduction, cataract, hydrocephaly, cleft palate, hypospadias and diaphragmatic hernia. Many studies to assess the anomalies associated with DS have reported various results. There is no agreement in the literature as to

  18. Fourier analysis of multi-gated cardiac blood-pool data in patients with congenital heart diseases, (2)

    International Nuclear Information System (INIS)

    The clinical usefulness of Fourier analysis of multi-gated cardiac blood-pool data was evaluated in 18 subjects with normal cardiac functions and 14 patients with complex cardiac anomalies (ten with tetralogy of Fallot, two with tricuspid atresia (TA), one with double-outlet right ventricle (DORV), and one with Ebstein's anomaly (EA)). Using global ventricular time-activity curves, the phase and amplitude at fundamental frequency were calculated, and emptying patterns of the left and right ventricles (LV, RV) were evaluated by phase difference [D(phase)=RV phase minus LV phase] and amplitude ratio of RV to LV [R(amp)]. In patients with TOF, mean values of D (phase) and R(amp) were 25.3+-10.5 degrees and 13.5+-0.49 respectively and significantly larger than those of normal subjects (p<0.001). D (phase) became larger in inverse proportion to the ratio of pulmonary-to-systemic blood flow and there was an inverse linear correlation between these two variables (r=-0.830, p<0.01). On visual interpretation of functional images, the dynamic property of hypoplastic ventricles could be easily estimated in patients with TA or DORV. In a case with EA, the atrialized RV was shown clearly as a hypokinetic, atrial phase area. This method is valuable for pathophysiologic investigation of diseases with complex cardiac anomalies. (author)

  19. Capacity building model for increased access to quality cardiac care for children in underserved regions

    OpenAIRE

    Bistra Zheleva, MBA; Andreas Tsakistos, MA; Erin Murley, BA; Emily Dale, MPH CHES

    2014-01-01

    Background: Congenital heart anomalies are the most common major birth defect in the world, affecting one in every 120 children, 90% of whom live where medical care is inadequate or unavailable. Increased access to paediatric cardiac care is a priority for most low-income and middle-income countries today. Children's HeartLink is dedicated to increasing access and improving quality at paediatric cardiac centres by use of a collaborative model that fosters sustainable clinical, organisational,...

  20. Complete Atrioventricular Septal Defect and Pulmonary Stenosis Diagnosed in a 49-Year-Old Woman after 10 Uneventful Births

    OpenAIRE

    Altin, Firat H.; Yildiz, Okan; Karacalilar, Mehmet; Tosun, Oyku; Kocyigit, Ozgen Ilgaz; Erek, Ersin

    2015-01-01

    Atrioventricular septal defects constitute 4% of all congenital cardiac malformations. Patients with complete atrioventricular septal defect rarely survive for decades without surgical treatment. Pulmonary stenosis can provide a delicate balance between the pulmonary and systemic circulations and thereby increase longevity. We present the case of a 49-year-old woman whose complete atrioventricular septal defect and associated pulmonary stenosis were diagnosed only after she had given birth to...

  1. A novel association of biventricular cardiac noncompaction and diabetic embryopathy: case report and review of the literature.

    Science.gov (United States)

    Woo, Jennifer S; Perez-Rosendahl, Mari; Haydel, Dana; Perens, Gregory; Fishbein, Michael C

    2015-01-01

    Diabetic embryopathy refers to a constellation of congenital malformations arising in the setting of poorly controlled maternal diabetes mellitus. Cardiac abnormalities are the most frequently observed findings, with a 5-fold risk over normal pregnancies. Although a diverse spectrum of cardiac defects has been documented, cardiac noncompaction morphology has not been associated with this syndrome. In this report, we describe a novel case of biventricular cardiac noncompaction in a neonate of a diabetic mother. The patient was a late preterm female with right anotia, caudal dysgenesis, multiple cardiac septal and aortic arch defects, and biventricular cardiac noncompaction. Examination of both ventricles demonstrated spongy myocardium with increased myocardial trabeculation greater than 50% left ventricular thickness and greater than 75% right ventricular thickness, with hypoplasia of the bilateral papillary muscles, consistent with noncompaction morphology. Review of the literature highlights the importance of gene expression and epigenomic regulation in cardiac embryogenesis. PMID:25386687

  2. Sirenomelia associada a defeitos congênitos raros: relato de três casos Sirenomelia associated with rare congenital defects: report of three cases

    Directory of Open Access Journals (Sweden)

    Maria Angélica F. D. Lima

    2012-08-01

    Full Text Available Sirenomelia é um defeito congênito muito raro do campo primário do desenvolvimento, definido pela substituição dos membros inferiores, normalmente pareados por um único membro mediano. Geralmente, associa-se a graus variados de anomalias gênito-urinárias. Relatamos três casos necropsiados dessa entidade, incluindo estudo radiológico do membro inferior único, associados a agenesia renal bilateral, de ureteres e da bexiga, atresia retal, ânus imperfurado, testículos abdominais e ausência de genitália externa, além de outros defeitos congênitos infrequentemente observados, que somente puderam ter seus diagnósticos firmados por meio da necropsia.Sirenomelia, an extremely rare congenital defect, is defined as a limb abnormality in which the normally paired lower limbs are replaced by a single midline limb. It is commonly associated with varied genitourinary anomalies. We report three cases of sirenomelia including x-ray documentation of the lower limb. Other associated aspects, whose diagnoses were established exclusively through autopsy, included bilateral renal, ureteral and bladder agenesis, rectal atresia, imperforate anus, intra-abdominal testis, absence of external genitalia and other rare congenital abnormalities.

  3. Pravastatin ameliorates placental vascular defects, fetal growth, and cardiac function in a model of glucocorticoid excess.

    Science.gov (United States)

    Wyrwoll, Caitlin S; Noble, June; Thomson, Adrian; Tesic, Dijana; Miller, Mark R; Rog-Zielinska, Eva A; Moran, Carmel M; Seckl, Jonathan R; Chapman, Karen E; Holmes, Megan C

    2016-05-31

    Fetoplacental glucocorticoid overexposure is a significant mechanism underlying fetal growth restriction and the programming of adverse health outcomes in the adult. Placental glucocorticoid inactivation by 11β-hydroxysteroid dehydrogenase type 2 (11β-HSD2) plays a key role. We previously discovered that Hsd11b2(-/-) mice, lacking 11β-HSD2, show marked underdevelopment of the placental vasculature. We now explore the consequences for fetal cardiovascular development and whether this is reversible. We studied Hsd11b2(+/+), Hsd11b2(+/-), and Hsd11b2(-/-) littermates from heterozygous (Hsd11b(+/-)) matings at embryonic day (E)14.5 and E17.5, where all three genotypes were present to control for maternal effects. Using high-resolution ultrasound, we found that umbilical vein blood velocity in Hsd11b2(-/-) fetuses did not undergo the normal gestational increase seen in Hsd11b2(+/+) littermates. Similarly, the resistance index in the umbilical artery did not show the normal gestational decline. Surprisingly, given that 11β-HSD2 absence is predicted to initiate early maturation, the E/A wave ratio was reduced at E17.5 in Hsd11b2(-/-) fetuses, suggesting impaired cardiac function. Pravastatin administration from E6.5, which increases placental vascular endothelial growth factor A and, thus, vascularization, increased placental fetal capillary volume, ameliorated the aberrant umbilical cord velocity, normalized fetal weight, and improved the cardiac function of Hsd11b2(-/-) fetuses. This improved cardiac function occurred despite persisting indications of increased glucocorticoid exposure in the Hsd11b2(-/-) fetal heart. Thus, the pravastatin-induced enhancement of fetal capillaries within the placenta and the resultant hemodynamic changes correspond with restored fetal cardiac function. Statins may represent a useful therapeutic approach to intrauterine growth retardation due to placental vascular hypofunction. PMID:27185937

  4. Translation and Testing of the Swedish Version of Iceland-Family Perceived Support Questionnaire With Parents of Children With Congenital Heart Defects.

    Science.gov (United States)

    Bruce, Elisabeth; Dorell, Åsa; Lindh, Viveca; Erlingsson, Christen; Lindkvist, Marie; Sundin, Karin

    2016-08-01

    There is a need for a suitable instrument for the Swedish context that could measure family members' perceptions of cognitive and emotional support received from nurses. The purpose of this study was to translate and test the psychometric properties of the Swedish version of the Iceland-Family Perceived Support Questionnaire (ICE-FPSQ) and, further, to report perceptions of support from nurses by family members of children with congenital heart defects (CHDs). A sample of 97 parents of children with CHD, living in Sweden, completed the Swedish translation of ICE-FPSQ. The Swedish version of ICE-FPSQ was found to be reliable and valid in this context. Parents scored perceived family support provided by nurses working in pediatric outpatient clinics as low, which suggests that nurses in these outpatient contexts in Sweden offered family nursing only sparingly. PMID:27402026

  5. Congenital Heart Defects and Measures of Fetal Growth in Newborns with Down Syndrome or 22q11.2 Deletion Syndrome

    DEFF Research Database (Denmark)

    Matthiesen, Niels B; Agergaard, Peter; Henriksen, Tine B;

    2016-01-01

    OBJECTIVES: To estimate the association between congenital heart defects (CHD) and indices of fetal growth in Down and 22q11.2 deletion syndromes. STUDY DESIGN: We established 2 Danish nationwide cohorts of newborn singletons with either Down syndrome (n = 670) or 22q11.2 deletion syndrome (n = 155...... syndrome and 22q11.2 deletion syndrome were both associated with lower mean birth weight and head circumference z-scores. We found no association between CHD or CHD severity and indices of fetal growth. In Down syndrome, the association between any CHD and the mean difference in head circumference z...... measures in newborns with Down syndrome or 22q11.2 deletion syndrome. Thus, in certain subtypes of CHD, the contribution of genetic factors to prenatal growth impairment may be more important than circulatory disturbances....

  6. Congenital defects of C1 arches and odontoid process in a child with Down′s syndrome: A case presentation

    Directory of Open Access Journals (Sweden)

    Catherine Hatzantonis

    2016-01-01

    Full Text Available We present the case of a 2-year-old child with Down′s syndrome who presented to our unit with torticollis. Imaging studies revealed the rare occurrence of anterior and posterior C1 arch defects, absent odontoid process, and atlantoaxial subluxation. We managed her conservatively for 3 years without neurological deficits or worsening of atlantoaxial subluxation. We discuss the rare occurrences of anterior and posterior arch defects of the atlas, the radiological presentations of axis defects in patients, and the occurrence of atlantoaxial instability in patients with Down′s syndrome. Management options with consideration to surgery in asymptomatic and symptomatic patients are also discussed.

  7. Congenital defects of C1 arches and odontoid process in a child with Down's syndrome: A case presentation.

    Science.gov (United States)

    Hatzantonis, Catherine; Muquit, Samiul; Nasto, Luigi Aurelio; Mehdian, Hossein

    2016-01-01

    We present the case of a 2-year-old child with Down's syndrome who presented to our unit with torticollis. Imaging studies revealed the rare occurrence of anterior and posterior C1 arch defects, absent odontoid process, and atlantoaxial subluxation. We managed her conservatively for 3 years without neurological deficits or worsening of atlantoaxial subluxation. We discuss the rare occurrences of anterior and posterior arch defects of the atlas, the radiological presentations of axis defects in patients, and the occurrence of atlantoaxial instability in patients with Down's syndrome. Management options with consideration to surgery in asymptomatic and symptomatic patients are also discussed. PMID:27217660

  8. Value of cardiac catheterization and cineangiography in infantile lobar emphysema

    Energy Technology Data Exchange (ETDEWEB)

    Roguin, N.; Peleg, H.; Naveh, Y.; Riss, E.

    1980-01-01

    Lobar emphysema is an uncommon cause of respiratory distress in infancy. Congenital heart disease is seen in about 20% of the patients with infantile (congenital) lobar emphysema. We described six infants with lobar emphysema. In three of them a congenital heart disease was demonstrated by cardiac catheterization and cineangiography; two had a tetralogy of Fallot with right aortic arch and the third infant a ventricular septal defect. The pulmonary angiography showed stretching of the arteries with very poor filling of the peripheral arteries and a characteristic smaller pulmonary vein in the affected lobe. In all the six patients the pulmonary artery pressure was normal. All the patients underwent lobectomy with good results. We feel that a preoperative cardiac catheterization and cineangiography is of value in this very sick group of infants.

  9. The Warden procedure can be successfully performed using minimally invasive cardiac surgery without aortic clamping.

    Science.gov (United States)

    Zubritskiy, Alexey; Arkhipov, Alexey; Khapaev, Timur; Naberukhin, Yuriy; Omelchenko, Alexander; Gorbatykh, Yuriy; Bogachev-Prokophiev, Alexander; Karaskov, Alexander

    2016-02-01

    Currently, minimally invasive cardiac surgery has found widespread use even in congenital heart surgery. The number of defects, which can be corrected through a small incision or totally endoscopic, is on the rise. Nowadays, surgeons can repair atrial septal defect, ventricular septal defect, patent ductus arteriosus and other congenital heart defects using minimally invasive techniques. In this paper, we report 21 cases of successful repair of supracardiac partial anomalous right upper and middle pulmonary venous connection, using the Warden procedure. It was performed in children through the right-sided midaxillary thoracotomy with direct cardiopulmonary bypass cannulation and induction of ventricular fibrillation. There were no operative or early postoperative deaths or complications. All patients were in sinus rhythm at discharge. According to echocardiography, there were no cases of early SVC or pulmonary veins narrowing. The Warden procedure can be performed safely and efficiently using the minimally invasive cardiac surgery. PMID:26541958

  10. Comparison of simultaneous and sequential SPECT imaging for discrimination tasks in assessment of cardiac defects

    OpenAIRE

    Trott, CM; Ouyang, J.; El Fakhri, G

    2010-01-01

    Simultaneous rest perfusion/fatty-acid metabolism studies have the potential to replace sequential rest/stress perfusion studies for the assessment of cardiac function. Simultaneous acquisition has the benefits of increased signal and lack of need for patient stress, but is complicated by cross-talk between the two radionuclide signals. We consider a simultaneous rest 99mTc-sestamibi/123I-BMIPP imaging protocol in place of the commonly-used sequential rest/stress 99mTc-sestamibi protocol. The...

  11. Bilateral Congenital Diaphragmatic Hernia

    OpenAIRE

    Dhua, Anjan K; Aggarwal, Satish K; NB Mathur; GR Sethi

    2012-01-01

    Bilateral congenital diaphragmatic hernia (CDH) is a rare birth defect, with a poor prognosis. We describe a case of bilateral CDH discovered while repairing the right sided CDH. Diaphragmatic defect was repaired and a silo was applied on the abdominal wound to avoid abdominal compartment syndrome. The patient however died postoperatively due to severe pulmonary hypertension.

  12. The cardiac phenotype in patients with a CHD7 mutation

    DEFF Research Database (Denmark)

    Corsten-Janssen, Nicole; Kerstjens-Frederikse, Wilhelmina S; du Marchie Sarvaas, Gideon J;

    2013-01-01

    Loss-of-function mutations in CHD7 cause Coloboma, Heart Disease, Atresia of Choanae, Retardation of Growth and/or Development, Genital Hypoplasia, and Ear Abnormalities With or Without Deafness (CHARGE) syndrome, a variable combination of multiple congenital malformations including heart defects....... Heart defects are reported in 70% to 92% of patients with a CHD7 mutation, but most studies are small and do not provide a detailed classification of the defects. We present the first, detailed, descriptive study on the cardiac phenotype of 299 patients with a CHD7 mutation and discuss the role of CHD7...

  13. Assessments of Coronary Artery Visibility and Radiation Dose in Infants with Congenital Heart Disease on Cardiac 128-slice CT and on Cardiac 64-slice CT.

    Science.gov (United States)

    Cui, Y; Huang, M; Zheng, J; Li, J; Liu, H; Liang, C

    2016-01-01

    The aim of this study was to compare the coronary artery visibility and radiation dose in infants with CHD on cardiac 128-slice CT and on cardiac 64-slice CT. The images of 200 patients were analyzed in this study, 100 patients were selected randomly from a group of 789 infants (ECG-triggered axial scan, and 100 were selected randomly from 911 infants with CHD undergoing 64-slice CT retrospective ECG-gated spiral scan. The visibility of coronary artery segments was graded on a four-point scale. The coronary arteries were considered to be detected or visible when grade was 2 or higher. The visibility of the coronary artery segments and the radiation dose was compared between the two groups. Except for the rate of LM (96 vs. 99%), the detection rates of the total, LAD, LCX, RCA, and the proximal segment of the RCA in the 256-slice CT group were significantly higher than those in the 64-slice CT group (51.7, 53.33, 33.67, 53.33, and 99 vs. 34.8, 34.33, 18, 30.67, and 75%, respectively). The counts of visibility score (4/3/2/1) for the LM and the proximal segment of the RCA were 62/22/12/4 and 56/20/17/7, respectively, in the 128-slice CT group and 17/42/30/1 and 9/30/38/25, respectively, in the 64-slice CT group. There were significant differences, especially for score 4 and 3, between the two groups. The radiation dose in the 128-slice CT group was significantly decreased than those in the 64-slice CT group (CTDIvol 1.88 ± 0.51 vs. 5.61 ± 0.63 mGy; SSDE 4.48 ± 1.15 vs. 13.97 ± 1.52 mGy; effective radiation dose 1.36 ± 0.44 vs. 4.06 ± 0.7 mSv). With reduced radiation dose, the visibility of the coronary artery in infants with CHD via prospective ECG-triggered mode on a 128-slice CT is superior to that of the 64-slice CT using retrospective ECG-gated spiral mode. PMID:26271472

  14. Diagnostic accuracy of sub-mSv prospective ECG-triggering cardiac CT in young infant with complex congenital heart disease.

    Science.gov (United States)

    Gao, Wei; Zhong, Yu Min; Sun, Ai Min; Wang, Qian; Ouyang, Rong Zhen; Hu, Li Wei; Qiu, Han Sheng; Wang, Shi Yu; Li, Jian Ying

    2016-06-01

    To explore the clinical value and evaluate the diagnostic accuracy of sub-mSv low-dose prospective ECG-triggering cardiac CT (CCT) in young infants with complex congenital heart disease (CHD). A total of 102 consecutive infant patients (53 boys and 49 girls with mean age of 2.9 ± 2.4 m and weight less than 5 kg) with complex CHD were prospectively enrolled. Scans were performed on a 64-slice high definition CT scanner with low dose prospective ECG-triggering mode and reconstructed with 80 % adaptive statistical iterative reconstruction algorithm. All studies were performed during free breathing with sedation. The subjective image quality was evaluated by 5-point grading scale and interobserver variability was calculated. The objective image noise (standard deviation, SD) and contrast to noise ratio (CNR) was calculated. The effective radiation dose from the prospective ECG-triggering mode was recorded and compared with the virtual conventional retrospective ECG-gating mode. The detection rate for the origin of coronary artery was calculated. All patients also underwent echocardiography before CCT examination. 81 patients had surgery and their preoperative CCT and echocardiography findings were compared with the surgical results and sensitivity, specificity, positive and negative predictive values and accuracy were calculated for separate cardiovascular anomalies. Heart rates were 70-161 beats per minute (bpm) with mean value of 129.19 ± 14.52 bpm. The effective dose of 0.53 ± 0.15 mSv in the prospective ECG-triggering cardiac CT was lower than the calculated value in a conventional retrospective ECG-gating mode (2.00 ± 0.35 mSv) (p detection rate for the origins of the left and right coronary arteries was 96 and 90 %, respectively. The detection rates of the origins of left coronary artery and right coronary artery in all cases were 96 % (78/81) and 90 % (73/81), respectively. Twenty cases of conotruncal anomalies and ALCAPA were validated

  15. The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease

    OpenAIRE

    Warburton, Dorothy; Ronemus, Michael; Kline, Jennie; Jobanputra, Vaidehi; Williams, Ismee; Anyane-Yeboa, Kwame; Chung, Wendy; Yu, Lan; Wong, Nancy; Awad, Danielle; Yu, Chih-yu; Leotta, Anthony; Kendall, Jude; Yamrom, Boris; Lee, Yoon-ha

    2013-01-01

    Congenital heart disease (CHD) is the most common congenital malformation, with evidence of a strong genetic component. We analyzed data from 223 consecutively ascertained families, each consisting of at least one child affected by a conotruncal defect (CNT) or hypoplastic left heart disease (HLHS) and both parents. The NimbleGen HD2-2.1 comparative genomic hybridization platform was used to identify de novo and rare inherited copy number variants (CNVs). Excluding 10 cases with 22q11.2 DiGeo...

  16. Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects

    OpenAIRE

    Danielle R. Lucon; Luciene M. Zanchetta; Cavalcanti, Denise P.

    2006-01-01

    Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD) and a 47,XY,+21[5]/46,XX[30] karyotype.

  17. Chimerism 47,XY,+21/46,XX in a female infant with anencephaly and other congenital defects

    Directory of Open Access Journals (Sweden)

    Danielle R. Lucon

    2006-01-01

    Full Text Available Chimerism is rare in humans and is usually discovered accidentally when a 46,XX and 46,XY karyotype is found in a same individual. We describe a malformed female infant with neural tube defect (NTD and a 47,XY,+21[5]/46,XX[30] karyotype.

  18. Comparison of contrast and noncontrast magnetic resonance angiography for quantitative analysis of thoracic arteries in young patients with congenital heart defects

    Directory of Open Access Journals (Sweden)

    Pasqua Alessia

    2011-01-01

    Full Text Available Background : Contrast MRA (C-MRA is the standard for quantitative analysis of thoracic vessels. We evaluated a noncontrast MRA (NC-MRA sequence (3-D EKG and navigator-gated SSFP for quantitative evaluation of the thoracic aorta and branch pulmonary arteries in young patients with congenital heart disease. Objective : To compare contrast and noncontrast magnetic resonance angiography for quantitative analysis of thoracic arteries in young patients with congenital heart defects. Methods : Measurements of thoracic aorta and branch pulmonary arteries were obtained from C-MRA and NC-MRA images in 51 patients, ages 2-35 years. Vessel diameters were compared using correlation and Bland-Altman analysis. Interobserver variability was assessed using percent variation. Results : C-MRA and NC-MRA measurements were highly correlated (r = 0.91-0.98 except for the right pulmonary artery (r = 0.74, 0.78. Agreement of measurements was excellent (mean difference -0.07 to -0.53 mm; mean % difference -1.8 to -4.9% except for the right pulmonary artery which was less good (mean difference 0.73, -1.38 mm; -3, -10%. Interobserver variability ranged from 5% to 8% for aortic and from 10% to 16% for pulmonary artery measures. The worse agreement and greater variability of the pulmonary artery measures appears due to difficulty standardizing the measurements in patients with abnormal and irregular vessels. Conclusion : These data indicate that C-MRA and NC-MRA measures are comparable and could be used interchangeably, avoiding administration of contrast in selected patients.

  19. RELATIVE FREQUENCY OF CONGENITAL HEART DISEASES IN BABIES WITH CLEFT LIP AND/OR PALATE

    OpenAIRE

    Ravikumar; Mohammed Manekkat Thekke; Tradib Arekanadth

    2016-01-01

    Orofacial clefts are among the most common congenital anomalies. A significant number of patients with cleft palate have other associated malformations that may result in cardiac, limb or other system defects. Establishing a significant relationship of associated anomalies in cleft lip and cleft palate is important for several reasons. Firstly, this will improve screening and evaluation methods in departments dealing with cleft lip and palate and other craniofacial anomalies becau...

  20. "Cutis tricolor": congenital hyper- and hypopigmented macules associated with a sporadic multisystem birth defect: an unusual example of twin spotting?

    OpenAIRE

    Happle, R; Barbi, G; Eckert, D.; Kennerknecht, I.

    1997-01-01

    An uncommon coexistence of circumscribed hyperpigmentation and hypopigmentation, in close proximity to each other, is described in a 17 years old patient with various other cogenital defects, such as dysmorphic facial appearance, severe kyphoscoliosis, delayed motor development, epileptic seizures, and mental retardation. We suggest the combination of hyper- and hypopigmented cutaneous lesions is an example of allelic twin spotting. Because the skin of this patient showed three different degr...

  1. Ablation of PGC-1beta results in defective mitochondrial activity, thermogenesis, hepatic function, and cardiac performance.

    Directory of Open Access Journals (Sweden)

    Christopher J Lelliott

    2006-11-01

    Full Text Available The transcriptional coactivator peroxisome proliferator-activated receptor-gamma coactivator-1beta (PGC-1beta has been implicated in important metabolic processes. A mouse lacking PGC-1beta (PGC1betaKO was generated and phenotyped using physiological, molecular, and bioinformatic approaches. PGC1betaKO mice are generally viable and metabolically healthy. Using systems biology, we identified a general defect in the expression of genes involved in mitochondrial function and, specifically, the electron transport chain. This defect correlated with reduced mitochondrial volume fraction in soleus muscle and heart, but not brown adipose tissue (BAT. Under ambient temperature conditions, PGC-1beta ablation was partially compensated by up-regulation of PGC-1alpha in BAT and white adipose tissue (WAT that lead to increased thermogenesis, reduced body weight, and reduced fat mass. Despite their decreased fat mass, PGC1betaKO mice had hypertrophic adipocytes in WAT. The thermogenic role of PGC-1beta was identified in thermoneutral and cold-adapted conditions by inadequate responses to norepinephrine injection. Furthermore, PGC1betaKO hearts showed a blunted chronotropic response to dobutamine stimulation, and isolated soleus muscle fibres from PGC1betaKO mice have impaired mitochondrial function. Lack of PGC-1beta also impaired hepatic lipid metabolism in response to acute high fat dietary loads, resulting in hepatic steatosis and reduced lipoprotein-associated triglyceride and cholesterol content. Altogether, our data suggest that PGC-1beta plays a general role in controlling basal mitochondrial function and also participates in tissue-specific adaptive responses during metabolic stress.

  2. Value of cardiac 320-multidetector computed tomography and cardiac magnetic resonance imaging for assessment of myocardial perfusion defects in patients with known chronic ischemic heart disease

    DEFF Research Database (Denmark)

    Qayyum, Abbas Ali; Kühl, Jørgen T; Mathiasen, Anders B;

    2013-01-01

    The challenge for therapies targeting perfusion abnormalities is to identify and evaluate the region of interest. The aim of this study was to compare rest and stress myocardial perfusion measured by cardiac multi-detector computed tomography (MDCT) and cardiac magnetic resonance (CMR) imaging in...

  3. ATP11C is a major flippase in human erythrocytes and its defect causes congenital hemolytic anemia.

    Science.gov (United States)

    Arashiki, Nobuto; Takakuwa, Yuichi; Mohandas, Narla; Hale, John; Yoshida, Kenichi; Ogura, Hiromi; Utsugisawa, Taiju; Ohga, Shouichi; Miyano, Satoru; Ogawa, Seishi; Kojima, Seiji; Kanno, Hitoshi

    2016-05-01

    Phosphatidylserine is localized exclusively to the inner leaflet of the membrane lipid bilayer of most cells, including erythrocytes. This asymmetric distribution is critical for the survival of erythrocytes in circulation since externalized phosphatidylserine is a phagocytic signal for splenic macrophages. Flippases are P-IV ATPase family proteins that actively transport phosphatidylserine from the outer to inner leaflet. It has not yet been determined which of the 14 members of this family of proteins is the flippase in human erythrocytes. Herein, we report that ATP11C encodes a major flippase in human erythrocytes, and a genetic mutation identified in a male patient caused congenital hemolytic anemia inherited as an X-linked recessive trait. Phosphatidylserine internalization in erythrocytes with the mutant ATP11C was decreased 10-fold compared to that of the control, functionally establishing that ATP11C is a major flippase in human erythrocytes. Contrary to our expectations phosphatidylserine was retained in the inner leaflet of the majority of mature erythrocytes from both controls and the patient, suggesting that phosphatidylserine cannot be externalized as long as scramblase is inactive. Phosphatidylserine-exposing cells were found only in the densest senescent cells (0.1% of total) in which scramblase was activated by increased Ca(2+) concentration: the percentage of these phosphatidylserine-exposing cells was increased in the patient's senescent cells accounting for his mild anemia. Furthermore, the finding of similar extents of phosphatidylserine exposure by exogenous Ca(2+)-activated scrambling in both control erythrocytes and the patient's erythrocytes implies that suppressed scramblase activity rather than flippase activity contributes to the maintenance of phosphatidylserine in the inner leaflet of human erythrocytes. PMID:26944472

  4. Live 4D optical coherence tomography for early embryonic mouse cardiac phenotyping

    Science.gov (United States)

    Lopez, Andrew L.; Wang, Shang; Larin, Kirill V.; Overbeek, Paul A.; Larina, Irina V.

    2016-03-01

    Studying embryonic mouse development is important for our understanding of normal human embryogenesis and the underlying causes of congenital defects. Our research focuses on imaging early development in the mouse embryo to specifically understand cardiovascular development using optical coherence tomography (OCT). We have previously developed imaging approaches that combine static embryo culture, OCT imaging and advanced image processing to visualize the whole live mouse embryos and obtain 4D (3D+time) cardiodynamic datasets with cellular resolution. Here, we present the study of using 4D OCT for dynamic imaging of early embryonic heart in live mouse embryos to assess mutant cardiac phenotypes during development, including a cardiac looping defect. Our results indicate that the live 4D OCT imaging approach is an efficient phenotyping tool that can reveal structural and functional cardiac defects at very early stages. Further studies integrating live embryonic cardiodynamic phenotyping with molecular and genetic approaches in mouse mutants will help to elucidate the underlying signaling defects.

  5. Myocardial contrast defect associated with thrombotic coronary occlusion: Pre-autopsy diagnosis of a cardiac death with post-mortem CT angiography

    International Nuclear Information System (INIS)

    We report the case of a female who died of suspected acute myocardial infarction. Post-mortem CT angiography (PMCTA) was performed with intravascular contrast infusion before the standard autopsy, and it successfully demonstrated the complete thrombotic occlusion of a coronary artery and also a corresponding perfusion defect on myocardium. We herein describe the PMCTA findings of a cardiac death with special emphasis on the potential benefits of this novel CT technique in forensic practice

  6. Myocardial contrast defect associated with thrombotic coronary occlusion: Pre-autopsy diagnosis of a cardiac death with post-mortem CT angiography

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Heon; Cha, Jang Gyu [Dept. of Radiology, Soonchunhyang University Hospital, Bucheon (Korea, Republic of); Park, Hye Jin; Lee, Soo Kyoung; Yang, Kyung Moo [Dept. of Forensic Medicine, National Forensic Service, Wonju (Korea, Republic of)

    2015-10-15

    We report the case of a female who died of suspected acute myocardial infarction. Post-mortem CT angiography (PMCTA) was performed with intravascular contrast infusion before the standard autopsy, and it successfully demonstrated the complete thrombotic occlusion of a coronary artery and also a corresponding perfusion defect on myocardium. We herein describe the PMCTA findings of a cardiac death with special emphasis on the potential benefits of this novel CT technique in forensic practice.

  7. Congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorders (CCDDs)

    OpenAIRE

    Assaf, A A

    2011-01-01

    Congenital loss of innervation to the extra-ocular muscles (EOMs) can have a profound effect on the target muscle. This has been well recognised in Duane's retraction syndrome. However, it has been less emphasised in other congenital oculo-motor disorders. Such congenital ocular motor defects have been expanded to include DRS, congenital fibrosis of EOMs, monocular elevation defect, Möbius syndrome, as well as several other non-ocular muscles supplied by cranial nerves such as facial muscles....

  8. A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach.

    Directory of Open Access Journals (Sweden)

    Firoz Abdul Samad

    Full Text Available Congenital heart defects (CHD presented as structural defects in the heart and blood vessels during birth contribute an important cause of childhood morbidity and mortality worldwide. Many Single nucletotide polymorphisms (SNPs in different genes have been associated with various types of congenital heart defects. NKX 2-5 gene is one among them, which encodes a homeobox-containing transcription factor that plays a crucial role during the initial phases of heart formation and development. Mutations in this gene could cause different types of congenital heart defects, including Atrial septal defect (ASD, Atrial ventricular block (AVB, Tetralogy of fallot and ventricular septal defect. This highlights the importance of studying the impact of different SNPs found within this gene that might cause structural and functional modification of its encoded protein. In this study, we retrieved SNPs from the database (dbSNP, followed by identification of potentially deleterious Non-synonymous single nucleotide polymorphisms (nsSNPs and prediction of their effect on proteins by computational screening using SIFT and Polyphen. Furthermore, we have carried out molecular dynamic simulation (MDS in order to uncover the SNPs that would cause the most structural damage to the protein altering its biological function. The most important SNP that was found using our approach was rs137852685 R161P, which was predicted to cause the most damage to the structural features of the protein. Mapping nsSNPs in genes such as NKX 2-5 would provide valuable information about individuals carrying these polymorphisms, where such variations could be used as diagnostic markers.

  9. A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene-A Molecular Dynamic Simulation Approach.

    Science.gov (United States)

    Abdul Samad, Firoz; Suliman, Bandar A; Basha, Syed Hussain; Manivasagam, Thamilarasan; Essa, Musthafa Mohamed

    2016-01-01

    Congenital heart defects (CHD) presented as structural defects in the heart and blood vessels during birth contribute an important cause of childhood morbidity and mortality worldwide. Many Single nucletotide polymorphisms (SNPs) in different genes have been associated with various types of congenital heart defects. NKX 2-5 gene is one among them, which encodes a homeobox-containing transcription factor that plays a crucial role during the initial phases of heart formation and development. Mutations in this gene could cause different types of congenital heart defects, including Atrial septal defect (ASD), Atrial ventricular block (AVB), Tetralogy of fallot and ventricular septal defect. This highlights the importance of studying the impact of different SNPs found within this gene that might cause structural and functional modification of its encoded protein. In this study, we retrieved SNPs from the database (dbSNP), followed by identification of potentially deleterious Non-synonymous single nucleotide polymorphisms (nsSNPs) and prediction of their effect on proteins by computational screening using SIFT and Polyphen. Furthermore, we have carried out molecular dynamic simulation (MDS) in order to uncover the SNPs that would cause the most structural damage to the protein altering its biological function. The most important SNP that was found using our approach was rs137852685 R161P, which was predicted to cause the most damage to the structural features of the protein. Mapping nsSNPs in genes such as NKX 2-5 would provide valuable information about individuals carrying these polymorphisms, where such variations could be used as diagnostic markers. PMID:27152669

  10. A Comprehensive In Silico Analysis on the Structural and Functional Impact of SNPs in the Congenital Heart Defects Associated with NKX2-5 Gene—A Molecular Dynamic Simulation Approach

    Science.gov (United States)

    Abdul Samad, Firoz; Suliman, Bandar A.; Basha, Syed Hussain; Manivasagam, Thamilarasan

    2016-01-01

    Congenital heart defects (CHD) presented as structural defects in the heart and blood vessels during birth contribute an important cause of childhood morbidity and mortality worldwide. Many Single nucletotide polymorphisms (SNPs) in different genes have been associated with various types of congenital heart defects. NKX 2–5 gene is one among them, which encodes a homeobox-containing transcription factor that plays a crucial role during the initial phases of heart formation and development. Mutations in this gene could cause different types of congenital heart defects, including Atrial septal defect (ASD), Atrial ventricular block (AVB), Tetralogy of fallot and ventricular septal defect. This highlights the importance of studying the impact of different SNPs found within this gene that might cause structural and functional modification of its encoded protein. In this study, we retrieved SNPs from the database (dbSNP), followed by identification of potentially deleterious Non-synonymous single nucleotide polymorphisms (nsSNPs) and prediction of their effect on proteins by computational screening using SIFT and Polyphen. Furthermore, we have carried out molecular dynamic simulation (MDS) in order to uncover the SNPs that would cause the most structural damage to the protein altering its biological function. The most important SNP that was found using our approach was rs137852685 R161P, which was predicted to cause the most damage to the structural features of the protein. Mapping nsSNPs in genes such as NKX 2–5 would provide valuable information about individuals carrying these polymorphisms, where such variations could be used as diagnostic markers. PMID:27152669

  11. Síndrome de deleção 22q11 e cardiopatias congênitas complexas 22q11.2 deletion syndrome and complex congenital heart defects

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    2011-02-01

    Full Text Available OBJETIVO: Verificar a frequência da síndrome de deleção 22q11 (SD22q11 entre pacientes portadores de cardiopatia congênita do tipo complexa. MÉTODOS: A amostra foi constituída por uma coorte prospectiva e consecutiva de pacientes com cardiopatia complexa em sua primeira hospitalização em uma unidade de tratamento intensivo cardiológica de um hospital pediátrico. Para cada paciente foi preenchida uma ficha de avaliação, com coleta de dados clínicos, e realizado o cariótipo de alta resolução e técnica de hibridização in situ fluorescente (FISH com pesquisa de microdeleção 22q11. Os defeitos cardíacos foram classificados por um cardiologista participante do estudo. RESULTADOS: A amostra foi composta de 66 pacientes. Quanto à análise cariotípica, alterações foram observadas em cinco pacientes (7,6%; contudo, nenhum deles apresentava deleção 22q11. A avaliação pela técnica de FISH pôde ser realizada com sucesso em 65 pacientes, sendo que a microdeleção 22q11 foi identificada em dois (3,1%. Dos 66 pacientes com defeitos complexos, 52 eram portadores de malformações do tipo conotruncal, sendo que em 51 a pesquisa para microdeleção 22q11 foi realizada. Os dois pacientes portadores da microdeleção 22q11 fizeram parte deste grupo, representando uma frequência de 3,9%. Eles apresentavam tetralogia de Fallot. CONCLUSÃO: A SD22q11 é uma anormalidade frequente entre pacientes com cardiopatias congênitas complexas e conotruncais. Variações da frequência da SD22q11 entre os estudos parecem estar associadas, principalmente, com a forma adotada para a seleção da amostra e às características da população em análise.OBJECTIVE: Investigate the frequency of 22q11 deletion syndrome among patients with complex congenital heart disease. METHODS: A prospective and consecutive cohort of patients with complex heart defects was evaluated in their first hospitalization at a cardiac intensive care unit of a pediatric

  12. New Syndrome of Congenital Circumferential Skin Folds Associated with Multiple Congenital Anomalies

    OpenAIRE

    Basel-Vanagaite, Lina; Sprecher, Eli; Gat, Andrea; Merlob, Paul; Albin-Kaplanski, Adi; Konen, Osnat; Solomon, Benjamin D.; Muenke, Maximilian; Grzeschik, Karl H; Sirota, Lea

    2011-01-01

    Congenital circumferential skin folds can be found in individuals with no additional defects, as well as in patients with multiple congenital anomalies and developmental abnormalities. Current data point to etiological heterogeneity of syndromic cases. We describe a 7-month-old girl with a novel combination of symmetrical congenital circumferential skin folds, dysmorphic features, and multiple congenital abnormalities. Examination of the patient revealed symmetrical congenital circumferential...

  13. The Diagnostic Value of Prenatal Ultrasound Screening for Complex Con-genital Cardiac Malformations During the Middle and Middle Pregnancy%中孕期胎儿产前超声筛查对复杂先天性心脏畸形的诊断价值探讨

    Institute of Scientific and Technical Information of China (English)

    李佳; 黄文英; 孙格格

    2015-01-01

    目的 分析妊娠中期胎儿行产前超声筛查对复杂先天性心脏畸形的临床诊断价值. 方法 整群选取该院2014年4月-2015年4月收治的5 800例妊娠中期的孕妇作为研究对象, 对其超声结果与产后的随访记录进行进一步分析. 结果共检出32例胎儿患有复杂先天性心脏畸形,检出率为0.55%.彩色多普勒超声诊断仪对单心房或单心室、大动脉转位、心内膜垫缺损、主动脉弓中断、永存动脉千、左心或右心发育不良、合并心外畸形、法洛四联征、左室横纹肌瘤和室间隔缺损进行筛查时,其检出率和随访记录差异无统计学意义;漏诊率为0.05%,漏诊的患儿分别为肺动脉狭窄、法洛四联征和室间隔缺损各1例. 结论 妊娠中期对胎儿进行产前超声筛查对其复杂先天性心脏畸形的临床诊断准确率较高,可降低复杂先天性心脏崎形胎儿出生率.%Objective To analyze the clinical diagnostic value of prenatal ultrasound screening for complex congenital cardiac mal-formations in the middle trimester of pregnancy. Methods In our hospital in April 2014 to 2015 April of 58 cases of prenatal ul-trasound screening in the second trimester pregnant women as the object of study and analysis of the ultrasonic imaging data and clinical data were retrospectively. The ultrasonic results and postpartum follow-up records for further analysis. Results 5 800 cases of pregnant women were checked out in 32 fetuses with complex congenital heart malformation, the detection rate was 0.55%. Col-or Doppler ultrasonic diagnostic apparatus of single atrial or ventricular, great artery transposition, endocardial cushion defect, aor-tic arch interruption, persistent truncus arteriosus thousand, left right heart or heart development adverse, with extra cardiac malfor-mations, tetralogy of Fallot, left ventricular rhabdomyoma and ventricular septal defect screening, by comparing the detection rate and follow-up record, the

  14. Usefulness of the severity and extent of reversible perfusion defects during thallium-dipyridamole imaging for cardiac risk assessment before noncardiac surgery

    International Nuclear Information System (INIS)

    Thallium-dipyridamole imaging is a very sensitive test for predicting cardiac events after noncardiac surgery, but it lacks specificity. To improve specificity, a semiquantitative scoring system was developed that combined dipyridamole-induced reversible left ventricular dilatation with scintigraphic indexes for severity and extent of reversible perfusion defects. Using this scoring system, patients were classified into low, intermediate and high risk subgroups. Thallium-dipyridamole imaging was performed in 66 patients before major general and vascular surgery. Thirty-nine patients classified as low risk (30 with normal scans and 9 with fixed defects) underwent surgery uneventfully. Surgery was cancelled in 6 patients with extensive thallium redistribution and coronary angiography was performed because of severe coronary artery disease in 5 and idiopathic dilated cardiomyopathy in 1. In the remaining 21 patients with thallium redistribution, a positive statistical correlation (p = 0.001) between scintigraphic indexes of severity and extent, and cardiac events was noted. Using cutoff values for the scintigraphic indexes, patients with reversible defects could be classified into intermediate and high risk subgroups. Only 1 of 11 patients at intermediate risk developed a complication, whereas 8 of 10 patients at high risk had a postoperative event (7 deaths and 1 myocardial infarction). Thus, using scintigraphic indexes for severity and extent, patients with reversible defects can be stratified into an intermediate risk subgroup that can safely undergo surgery and a high risk subgroup that requires coronary angiography

  15. Usefulness of the severity and extent of reversible perfusion defects during thallium-dipyridamole imaging for cardiac risk assessment before noncardiac surgery

    Energy Technology Data Exchange (ETDEWEB)

    Lette, J.; Waters, D.; Lapointe, J.; Gagnon, A.; Picard, M.; Cerino, M.; Kerouac, M. (Maisonneuve-Rosemont Hospital, Montreal, Quebec (Canada))

    1989-08-01

    Thallium-dipyridamole imaging is a very sensitive test for predicting cardiac events after noncardiac surgery, but it lacks specificity. To improve specificity, a semiquantitative scoring system was developed that combined dipyridamole-induced reversible left ventricular dilatation with scintigraphic indexes for severity and extent of reversible perfusion defects. Using this scoring system, patients were classified into low, intermediate and high risk subgroups. Thallium-dipyridamole imaging was performed in 66 patients before major general and vascular surgery. Thirty-nine patients classified as low risk (30 with normal scans and 9 with fixed defects) underwent surgery uneventfully. Surgery was cancelled in 6 patients with extensive thallium redistribution and coronary angiography was performed because of severe coronary artery disease in 5 and idiopathic dilated cardiomyopathy in 1. In the remaining 21 patients with thallium redistribution, a positive statistical correlation (p = 0.001) between scintigraphic indexes of severity and extent, and cardiac events was noted. Using cutoff values for the scintigraphic indexes, patients with reversible defects could be classified into intermediate and high risk subgroups. Only 1 of 11 patients at intermediate risk developed a complication, whereas 8 of 10 patients at high risk had a postoperative event (7 deaths and 1 myocardial infarction). Thus, using scintigraphic indexes for severity and extent, patients with reversible defects can be stratified into an intermediate risk subgroup that can safely undergo surgery and a high risk subgroup that requires coronary angiography.

  16. A case control study on the effect of occupational stress on congenital defects%母亲职业紧张对子代先天畸形影响的病例-对照研究

    Institute of Scientific and Technical Information of China (English)

    顾依群; 凌颖蕾; 马文军; 王金玲; 党卫民; 王笑红

    2012-01-01

    [Objective] To explore the association between occupational stress and congenital defects. [Methods] A 1: 3 matched case-control study was conducted on 101 pregnant women with congenital defects as exposure group and 303 women with normal pregnancy as control group. The occupational stress was measured with the Chinese version of self-reported Job Content Questionnaire (JCQ) and Effort Reward Imbalance Questionnaire (ERIQ). Data were analyzed by multivariate conditional logistic regression. [Results]After adjustment and consideration of the other factors which were irrelevant to occupational stress, no significant differences were found between occupational stress and congenital defects (P =0.345) through JCQ and related factor analysis. Maternal education might be the protective factors for congenital defects) OR =0.614, 95% C1: 0.465-0.810). Maternal Physical exercises might prevent congenital defects (OR = 0.586, 95% C1: 0.406-0.844). ERIQ analysis showed the result of relationship a-nalysis between occupational stress and congenital defects was similar with that of JCQ. [ Conclusion] The results can not affirm the effect of occupational stress on congenital defects.%目的 探讨母亲职业紧张与子代先天畸形发生的关系.方法 选择在北京市某区妇幼保健院发生的101例先天畸形的孕妇为病例组,同期正常妊娠的妇女303例为对照组,进行1:3配对病例—对照研究;采用中文版工作内容问卷(JCQ)和付出—回报失衡问卷(ERIQ)核心版对研究对象分别进行职业紧张程度测量,对母亲职业紧张与子代先天畸形发生之间的关系进行多因素条件logistic回归分析.结果 在控制和考虑非职业性因素后,对JCQ及相关因素分析表明,职业紧张程度与子代先天畸形发生之间相关性不明显(P=0.345),母亲加强体育锻炼对子代先天畸形的发生可能具有保护作用(OR =0.614,95%CI为0.465 ~0.810)、母亲较高教育程度也可能

  17. The value of cardiac catheterization and cineangiography in infantile lobar emphysema

    International Nuclear Information System (INIS)

    Lobar emphysema is an uncommon cause of respiratory distress in infancy. Congenital heart disease is seen in about 20% of the patients with infantile (congenital) lobar emphysema. We described six infants with lobar emphysema. In three of them a congenital heart disease was demonstrated by cardiac catheterization and cineangiography; two had a tetralogy of Fallot with right aortic arch and the third infant a ventricular septal defect. The pulmonary angiography showed stretching of the arteries with very poor filling of the peripheral arteries and a characteristic smaller pulmonary vein in the affected lobe. In all the six patients the pulmonary artery pressure was normal. All the patients underwent lobectomy with good results. We feel that a preoperative cardiac catheterization and cineangiography is of value in this very sick group of infants. (orig.)

  18. Identification of subtelomeric genomic imbalances and breakpoint mapping with quantitative PCR in 296 individuals with congenital defects and/or mental retardation

    Directory of Open Access Journals (Sweden)

    Brockmann Knut

    2009-03-01

    Full Text Available Abstract Background Submicroscopic imbalances in the subtelomeric regions of the chromosomes are considered to play an important role in the aetiology of mental retardation (MR. The aim of the study was to evaluate a quantitative PCR (qPCR protocol established by Boehm et al. (2004 in the clinical routine of subtelomeric testing. Results 296 patients with MR and a normal karyotype (500–550 bands were screened for subtelomeric imbalances by using qPCR combined with SYBR green detection. In total, 17 patients (5.8% with 20 subtelomeric imbalances were identified. Six of the aberrations (2% were classified as causative for the symptoms, because they occurred either de novo in the patients (5 cases or the aberration were be detected in the patient and an equally affected parent (1 case. The extent of the deletions ranged from 1.8 to approximately 10 Mb, duplications were 1.8 to approximately 5 Mb in size. In 6 patients, the copy number variations (CNVs were rated as benign polymorphisms, and the clinical relevance of these CNVs remains unclear in 5 patients (1.7%. Therefore, the overall frequency of clinically relevant imbalances ranges between 2% and 3.7% in our cohort. Conclusion This study illustrates that the qPCR/SYBR green technique represents a rapid and versatile method for the detection of subtelomeric imbalances and the option to map the breakpoint. Thus, this technique is highly suitable for genotype/phenotype studies in patients with MR/developmental delay and/or congenital defects.

  19. Identification of cardiac malformations in mice lacking Ptdsr using a novel high-throughput magnetic resonance imaging technique

    Directory of Open Access Journals (Sweden)

    Clarke Kieran

    2004-12-01

    Full Text Available Abstract Background Congenital heart defects are the leading non-infectious cause of death in children. Genetic studies in the mouse have been crucial to uncover new genes and signaling pathways associated with heart development and congenital heart disease. The identification of murine models of congenital cardiac malformations in high-throughput mutagenesis screens and in gene-targeted models is hindered by the opacity of the mouse embryo. Results We developed and optimized a novel method for high-throughput multi-embryo magnetic resonance imaging (MRI. Using this approach we identified cardiac malformations in phosphatidylserine receptor (Ptdsr deficient embryos. These included ventricular septal defects, double-outlet right ventricle, and hypoplasia of the pulmonary artery and thymus. These results indicate that Ptdsr plays a key role in cardiac development. Conclusions Our novel multi-embryo MRI technique enables high-throughput identification of murine models for human congenital cardiopulmonary malformations at high spatial resolution. The technique can be easily adapted for mouse mutagenesis screens and, thus provides an important new tool for identifying new mouse models for human congenital heart diseases.

  20. Utility of Magnetic Resonance Imaging in Cardiac Venous Anatomic Variants

    International Nuclear Information System (INIS)

    The incidence of persistent left superior venacava (PLSVC) is approximately 0.5% in the general population; however,the coexistent absence of the right SVC has a reported incidence in tertiary centers of 0.1%. The vast majority of reports are limited to pediatric cardiology. Likewise, sinus of Valsalva aneurysm is a rare congenital anomaly, with a reported incidence of 0.1-3.5% of all congenital heart defects. We present a 71-year-old patient undergoing preoperative evaluation for incidental finding of aortic root aneurysm,and found to have all three in coexistence. Suggestive findings were demonstrated on cardiac catheterization and definitive diagnosis was made by magnetic resonance imaging. The use of MRI for the diagnosis of asymptomatic adult congenital heart disease will be reviewed

  1. Psychiatric manifestations of congenital rubella syndrome: A case report and review of literature.

    Science.gov (United States)

    Chauhan, Nidhi; Sen, Mahadev Singh; Jhanda, Soumya; Grover, Sandeep

    2016-01-01

    Neurodevelopmental disorders are known to have varied etiology. Among known etiologic causes, congenital rubella syndrome (CRS) is reported to be one of the infections associated with neurodevelopmental disorders. CRS has been reported to be associated with large number of psychiatric manifestation. However, data from developing countries on psychiatric manifestations of CRS are nonexistent. In this report, we present the case of a 7-year-old boy, who presented with mental retardation, atypical autism, and attention deficit hyperactivity disorder. Since birth, the child was found to have congenital cardiac defects and was found to have bilateral profound sensorineural hearing loss since the age of 6 months. Magnetic resonance imaging showed multifocal symmetrical T2/fluid attenuated inversion recovery hyperintensities in bilateral cerebral hemisphere suggestive of sequelae of congenital rubella infection. PMID:27606025

  2. Psychiatric manifestations of congenital rubella syndrome: A case report and review of literature

    Directory of Open Access Journals (Sweden)

    Nidhi Chauhan

    2016-01-01

    Full Text Available Neurodevelopmental disorders are known to have varied etiology. Among known etiologic causes, congenital rubella syndrome (CRS is reported to be one of the infections associated with neurodevelopmental disorders. CRS has been reported to be associated with large number of psychiatric manifestation. However, data from developing countries on psychiatric manifestations of CRS are nonexistent. In this report, we present the case of a 7-year-old boy, who presented with mental retardation, atypical autism, and attention deficit hyperactivity disorder. Since birth, the child was found to have congenital cardiac defects and was found to have bilateral profound sensorineural hearing loss since the age of 6 months. Magnetic resonance imaging showed multifocal symmetrical T2/fluid attenuated inversion recovery hyperintensities in bilateral cerebral hemisphere suggestive of sequelae of congenital rubella infection.

  3. Coronary artery visibility in free-breathing young children with congenital heart disease on cardiac 64-slice CT: dual-source ECG-triggered sequential scan vs. single-source non-ECG-synchronized spiral scan

    International Nuclear Information System (INIS)

    The potential impact of dual-source ECG-triggered sequential CT scan on coronary artery visibility has not been evaluated in free-breathing young children. To compare coronary artery visibility in free-breathing young children with congenital heart disease on cardiac 64-slice CT between dual-source ECG-triggered sequential (DSET) scan and single-source non-ECG-synchronized spiral (SSNE) scan. In 93 young children, 108 cardiac 64-slice CT examinations were performed during free-breathing. Visibility of coronary arteries and side branches was compared between SSNE and DSET scans. Heart rates and trigger delays for DSET scan were recorded. Effective dose of each scan technique was calculated. Visual grades were significantly higher (P < 0.001 or =0.011) on DSET scan than on SSNE scan except for the distal left anterior descending artery. Coronary arteries were traceable in 79.3% on DSET scan and 54.3% on SSNE scan in the overlapped scan range (P < 0.0001), and 97.1% and 71.9% for the origins and proximal segments (P < 0.0001). Visibility of side branches was improved on DSET scan by a factor of 2.0. Heart rates and trigger delays for DSET scan were 131 ± 24 beats per min and 199 ± 44 ms, respectively. Effective doses of DSET and SSNE scans were 0.36 ± 0.12 mSv and 0.99 ± 0.23 mSv, respectively. DSET scan improves visibility of coronary arteries on cardiac 64-slice CT in free-breathing young children with congenital heart disease, compared with SSNE scan. (orig.)

  4. Progress in use of brain natriuretic peptide in congenital heart disease and perioperative pediatric cardiac operation%脑钠肽在小儿先天性心脏病及围手术期的应用进展

    Institute of Scientific and Technical Information of China (English)

    肖书娜

    2013-01-01

    脑钠肽是一种神经内分泌激素,它与先天性心脏病患儿心功能不全和肺动脉高压程度呈正相关,已成为评估先天性心脏病患儿心功能不全程度、反映先天性心脏病患儿术前术后心功能状态的简便、准确的生物化学指标.它对先天性心脏病心脏手术预后有预测作用,对围手术期治疗有指导意义,能减少术后并发症和病死率,成为迅速、即时床边检查的辅助手段.该文就其与先天性心脏病的相关性和在先天性心脏病围手术期应用进展作一概述.%Brain natriuretic peptide (BNP) is a neuroendocrine hormone,which has a positive correlation with degree of cardiac dysfunction and pulmonary arterial hypertension of children with congenital heart disease (CHD).BNP has been shown to be a simple,accurate and useful biochemical indicator in assessing cardiac dysfunction degree and reflecting perioperative cardiac function state of children with CHD.It has prognostic value in congenital heart surgery and can guide the perioperative treatment and reduce the postoperative complications and mortality.It is a quick,instant bedside inspection supplementary means.This article describes the relevance between BNP and CHD and the application progress of BNP in pefioperative of CHD.

  5. Coronary artery visibility in free-breathing young children with congenital heart disease on cardiac 64-slice CT: dual-source ECG-triggered sequential scan vs. single-source non-ECG-synchronized spiral scan

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-10-15

    The potential impact of dual-source ECG-triggered sequential CT scan on coronary artery visibility has not been evaluated in free-breathing young children. To compare coronary artery visibility in free-breathing young children with congenital heart disease on cardiac 64-slice CT between dual-source ECG-triggered sequential (DSET) scan and single-source non-ECG-synchronized spiral (SSNE) scan. In 93 young children, 108 cardiac 64-slice CT examinations were performed during free-breathing. Visibility of coronary arteries and side branches was compared between SSNE and DSET scans. Heart rates and trigger delays for DSET scan were recorded. Effective dose of each scan technique was calculated. Visual grades were significantly higher (P < 0.001 or =0.011) on DSET scan than on SSNE scan except for the distal left anterior descending artery. Coronary arteries were traceable in 79.3% on DSET scan and 54.3% on SSNE scan in the overlapped scan range (P < 0.0001), and 97.1% and 71.9% for the origins and proximal segments (P < 0.0001). Visibility of side branches was improved on DSET scan by a factor of 2.0. Heart rates and trigger delays for DSET scan were 131 {+-} 24 beats per min and 199 {+-} 44 ms, respectively. Effective doses of DSET and SSNE scans were 0.36 {+-} 0.12 mSv and 0.99 {+-} 0.23 mSv, respectively. DSET scan improves visibility of coronary arteries on cardiac 64-slice CT in free-breathing young children with congenital heart disease, compared with SSNE scan. (orig.)

  6. Case series: Congenital left ventricular diverticulum

    Directory of Open Access Journals (Sweden)

    Shah Dharita

    2010-01-01

    Full Text Available Congenital left ventricular diverticulum is a rare cardiac malformation characterized by a localized outpouching from the cardiac chamber. The patient is usually asymptomatic. However, complications like embolism, infective endocarditis, arrhythmia and, rarely, rupture can be the initial presentation. Diagnosis can be established by USG, echocardiography, CT angiography, and MRI. We report here two neonates with congenital left ventricular apical diverticulum associated with epigastric hernia.

  7. 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

  8. 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.

  9. 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)

  10. ANAESTHETIC MANAGEMENT OF TETRALOGY OF FALLOT COMING FOR NON - CARDIAC SURGERY: A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Dilesh

    2015-03-01

    Full Text Available Tetralogy of Fallot is a cyanotic congenital heart disorder and includes ventricular septal defect , right ventricular outflow tract obstruction (pulmonic stenosis , right ventricular hypertrophy and overriding of aorta . Anaesthetic goals in these patients is to maintain or increase the systemic vascular resistance minimize pulmonary vascular resistance and provide mild cardiac depression . Here we present a report of anaesthetic management of a 5 year old boy with t etralogy of fallot coming for cleft lip and cleft palate repair .

  11. 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 ...

  12. Congenital Heart Defects and CCHD

    Science.gov (United States)

    ... life (lifestyle and environment) Some things in your life and environment (where and how you live) may increase your ... life (lifestyle and environment) Some things in your life and environment (where and how you live) may increase your ...

  13. Refractory cardiogenic shock in an infant with congenital hypothyroidism

    OpenAIRE

    Syed Ahmed Zaki; Amit Dolas

    2012-01-01

    Thyroid dysfunction causes remarkable cardiovascular derangements. Both systolic and diastolic dysfunction of the heart can occur in hypothyroidism leading to cardiac arrhythmia and congestive heart failure. Refractory cardiogenic shock and hypotension in congenital hypothyroidism is rare. We describe a 5-month-old female infant with congenital hypothyroidism and refractory cardiogenic shock. Cardiac function and hemodynamic stability were restored after starting levothyroxine therapy.

  14. Cardiac troponin T is necessary for normal development in the embryonic chick heart.

    Science.gov (United States)

    England, Jennifer; Pang, Kar Lai; Parnall, Matthew; Haig, Maria Isabel; Loughna, Siobhan

    2016-09-01

    The heart is the first functioning organ to develop during embryogenesis. The formation of the heart is a tightly regulated and complex process, and alterations to its development can result in congenital heart defects. Mutations in sarcomeric proteins, such as alpha myosin heavy chain and cardiac alpha actin, have now been associated with congenital heart defects in humans, often with atrial septal defects. However, cardiac troponin T (cTNT encoded by gene TNNT2) has not. Using gene-specific antisense oligonucleotides, we have investigated the role of cTNT in chick cardiogenesis. TNNT2 is expressed throughout heart development and in the postnatal heart. TNNT2-morpholino treatment resulted in abnormal atrial septal growth and a reduction in the number of trabeculae in the developing primitive ventricular chamber. External analysis revealed the development of diverticula from the ventricular myocardial wall which showed no evidence of fibrosis and still retained a myocardial phenotype. Sarcomeric assembly appeared normal in these treated hearts. In humans, congenital ventricular diverticulum is a rare condition, which has not yet been genetically associated. However, abnormal haemodynamics is known to cause structural defects in the heart. Further, structural defects, including atrial septal defects and congenital diverticula, have previously been associated with conduction anomalies. Therefore, to provide mechanistic insights into the effect that cTNT knockdown has on the developing heart, quantitative PCR was performed to determine the expression of the shear stress responsive gene NOS3 and the conduction gene TBX3. Both genes were differentially expressed compared to controls. Therefore, a reduction in cTNT in the developing heart results in abnormal atrial septal formation and aberrant ventricular morphogenesis. We hypothesize that alterations to the haemodynamics, indicated by differential NOS3 expression, causes these abnormalities in growth in cTNT knockdown

  15. Lymphangiosarcoma in a 3.5-year-old Bullmastiff bitch with vaginal prolapse, primary lymph node fibrosis and other congenital defects.

    Science.gov (United States)

    Williams, J H; Birrell, J; Van Wilpe, E

    2005-09-01

    the ventral rectal serosa, and the 'prolapsed' tissue was found to be expanded vaginal wall. The bitch was euthanased and necropsied, Histological examination confirmed lymphangiosarcomatous invasion of the submucosal and muscular layers of the retroperitoneal, traumatised, prolapsed part of the vagina, the urethra and the ventral rectal wall. The broad ligament was diffusely invaded with tumour which had proliferated into the caudal abdominal space, and 3 small intra-trabecular foci of tumour were found in the right popliteal lymph node near the hilus. Mitotic figures were generally scarce. There was mild subcutaneous oedema of the ventral trunk extending from the axillae to the inner proximal thighs, which had not been evident clinically, and the lymph nodes (peripheral more so than internal) microscopically showed marked trabecular and perivascular fibrosis especially in hilar regions. Other congenital defects were hepatic capsular and central venous fibrosis with lymphatic duplication and dilatation in all areas of connective tissue, ventrally-incongruous half-circular tracheal rings, and multifocal renal dysplasia affecting the right kidney. There was locally-extensive subacute pyelonephritis of the left kidney. PMID:16300186

  16. Lymphangiosarcoma in a 3.5-year-old Bullmastiff bitch with vaginal prolapse, primary lymph node fibrosis and other congenital defects : clinical communication

    Directory of Open Access Journals (Sweden)

    J.H. Williams

    2005-06-01

    broad ligament and the ventral rectal serosa, and the 'prolapsed' tissue was found to be expanded vaginal wall. The bitch was euthanased and necropsied, Histological examination confirmed lymphangiosarcomatous invasion of the submucosal and muscular layers of the retroperitoneal, traumatised, prolapsed part of the vagina, the urethra and the ventral rectal wall. The broad ligament was diffusely invaded with tumour which had proliferated into the caudal abdominal space, and 3 small intra-trabecular foci of tumour were found in the right popliteal lymph node near the hilus. Mitotic figures were generally scarce. There was mild subcutaneous oedema of the ventral trunk extending from the axillae to the inner proximal thighs, which had not been evident clinically, and the lymph nodes (peripheral more so than internal microscopically showed marked trabecular and perivascular fibrosis especially in hilar regions. Other congenital defects were hepatic capsular and central venous fibrosis with lymphatic duplication and dilatation in all areas of connective tissue, ventrally-incongruous half-circular tracheal rings, and multifocal renal dysplasia affecting the right kidney. There was locally-extensive subacute pyelonephritis of the left kidney.

  17. Cardiac CT

    Energy Technology Data Exchange (ETDEWEB)

    Dewey, Marc [Charite - Universitaetsmedizin Berlin (Germany). Inst. fuer Radiologie

    2011-07-01

    Computed tomography of the heart has become a highly accurate diagnostic modality that is attracting increasing attention. This extensively illustrated book aims to assist the reader in integrating cardiac CT into daily clinical practice, while also reviewing its current technical status and applications. Clear guidance is provided on the performance and interpretation of imaging using the latest technology, which offers greater coverage, better spatial resolution, and faster imaging. The specific features of scanners from all four main vendors, including those that have only recently become available, are presented. Among the wide range of applications and issues to be discussed are coronary artery bypass grafts, stents, plaques, and anomalies, cardiac valves, congenital and acquired heart disease, and radiation exposure. Upcoming clinical uses of cardiac CT, such as plaque imaging and functional assessment, are also explored. (orig.)

  18. 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

  19. 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.)

  20. Acquired Gerbode defect following endocarditis of the tricuspid valve: a case report and literature review.

    Science.gov (United States)

    Prifti, Edvin; Ademaj, Fadil; Baboci, Arben; Demiraj, Aurel

    2015-01-01

    The Gerbode's defect is a communication between the left ventricle and right atrium. It is usually congenital, but rarely is acquired, as a complication of endocarditis, myocardial infarction, trauma, or after previous cardiac surgery. The acquired Gerbode defect with involvement of the tricuspid valve acquired after bacterial endocarditis can be challenging to repair. We present a rare case of young woman, with endocarditis of the tricuspid valve and acquired Gerbode defect without previous cardiac surgery. She underwent successful surgical closure of the Gerbode defect and reconstruction of the septal leaflet of the tricuspid valve using a an autologous pericardial patch. A total of 20 other cases were reported with acquired Gerbode defect due to endocarditis in patients without previous cardiac surgery. Three other cases presented acquired Gerbode defect due to myocardial infarction and two due to chest trauma. Another series of 62 patients presented acquired Gerbode defect after previous cardiac surgery. Surgical treatment is always feasible with excellent outcome. However the percutanous transcatheter closure remains an excellent option especially in high risk patients. PMID:26353810

  1. 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

  2. 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.

  3. 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

  4. Congenital imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Netchine, Irène; Temple, I Karen;

    2015-01-01

    consortium EUCID.net (European network of congenital imprinting disorders) now aims to promote better clinical care and scientific investigation of imprinting disorders by establishing a concerted multidisciplinary alliance of clinicians, researchers, patients and families. By encompassing all IDs and...... specific clinical features, and, as each appeared to be associated with specific imprinting defects, they have been widely regarded as separate entities. However, they share clinical characteristics and can show overlapping molecular alterations. Nevertheless, IDs are usually studied separately despite...

  5. Congenital ocular motor apraxia

    OpenAIRE

    Carrasquinho, S; Teixeira, S.; Cadete, A; Bernardo, M.; Pêgo, P; Prieto, I.

    2008-01-01

    PURPOSE: Congenital ocular motor apraxia is a rare disease characterized by defective or absent voluntary and optically induced horizontal saccadic movements. Jerky head movements or thrusts on attempted lateral gaze are a compensatory sign. Most affected children have delayed motor and speech development. Cases associated with systemic diseases, neurologic maldevelopment, metabolic deficits, and chromosomal abnormalities have been described. METHODS: Case report and review of the scienti...

  6. New syndrome of congenital circumferential skin folds associated with multiple congenital anomalies.

    Science.gov (United States)

    Basel-Vanagaite, Lina; Sprecher, Eli; Gat, Andrea; Merlob, Paul; Albin-Kaplanski, Adi; Konen, Osnat; Solomon, Benjamin D; Muenke, Maximilian; Grzeschik, Karl-H; Sirota, Lea

    2012-01-01

    Congenital circumferential skin folds can be found in individuals with no additional defects, as well as in patients with multiple congenital anomalies and developmental abnormalities. Current data point to etiological heterogeneity of syndromic cases. We describe a 7-month-old girl with a novel combination of symmetrical congenital circumferential skin folds, dysmorphic features, and multiple congenital abnormalities. Examination of the patient revealed symmetrical congenital circumferential skin folds and dysmorphic features, as well as multiple congenital anomalies including nasal pyriform aperture stenosis, ventricular septal defect, absent spleen, camptodactyly, and severe psychomotor retardation. Skin biopsy demonstrated subcutaneous fat extending into the superficial and deep reticular dermis. Sequencing of the CDON, SHH, ZIC2, SIX3, and TGIF genes (associated with holoprosencephaly) did not disclose pathogenic alterations. Extensive review of previously described cases of syndromic congenital circumferential skin folds did not reveal a similar combination of clinical and histopathological findings. PMID:21995818

  7. 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

  8. An overview of cardiac morphogenesis.

    OpenAIRE

    Schleich, Jean-Marc; Abdulla, Tariq; Summers, Ron; Houyel, Lucile

    2013-01-01

    International audience Accurate knowledge of normal cardiac development is essential for properly understanding the morphogenesis of congenital cardiac malformations that represent the most common congenital anomaly in newborns. The heart is the first organ to function during embryonic development and is fully formed at 8 weeks of gestation. Recent studies stemming from molecular genetics have allowed specification of the role of cellular precursors in the field of heart development. In th...

  9. Live four-dimensional optical coherence tomography reveals embryonic cardiac phenotype in mouse mutant

    Science.gov (United States)

    Lopez, Andrew L., III; Wang, Shang; Larin, Kirill V.; Overbeek, Paul A.; Larina, Irina V.

    2015-09-01

    Efficient phenotyping of developmental defects in model organisms is critical for understanding the genetic specification of normal development and congenital abnormalities in humans. We previously reported that optical coherence tomography (OCT) combined with live embryo culture is a valuable tool for mouse embryo imaging and four-dimensional (4-D) cardiodynamic analysis; however, its capability for analysis of mouse mutants with cardiac phenotypes has not been previously explored. Here, we report 4-D (three-dimensional+time) OCT imaging and analysis of the embryonic heart in a Wdr19 mouse mutant, revealing a heart looping defect. Quantitative analysis of cardiac looping revealed a statistically significant difference between mutant and control embryos. Our results indicate that live 4-D OCT imaging provides a powerful phenotyping approach to characterize embryonic cardiac function in mouse models.

  10. 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...

  11. Disappearance of myocardial perfusion defects on prone SPECT imaging: Comparison with cardiac magnetic resonance imaging in patients without established coronary artery disease

    Directory of Open Access Journals (Sweden)

    Hedén Bo

    2009-08-01

    Full Text Available Abstract Background It is of great clinical importance to exclude myocardial infarction in patients with suspected coronary artery disease who do not have stress-induced ischemia. The diagnostic use of myocardial perfusion single-photon emission computed tomography (SPECT in this situation is sometimes complicated by attenuation artifacts that mimic myocardial infarction. Imaging in the prone position has been suggested as a method to overcome this problem. Methods In this study, 52 patients without known prior infarction and no stress-induced ischemia on SPECT imaging were examined in both supine and prone position. The results were compared with cardiac magnetic resonance imaging (CMR with delayed-enhancement technique to confirm or exclude myocardial infarction. Results There were 63 defects in supine-position images, 37 of which disappeared in the prone position. None of the 37 defects were associated with myocardial infarction by CMR, indicating that all of them represented attenuation artifacts. Of the remaining 26 defects that did not disappear on prone imaging, myocardial infarction was confirmed by CMR in 2; the remaining 24 had no sign of ischemic infarction but 2 had other kinds of myocardial injuries. In 3 patients, SPECT failed to detect small scars identified by CMR. Conclusion Perfusion defects in the supine position that disappeared in the prone position were caused by attenuation, not myocardial infarction. Hence, imaging in the prone position can help to rule out ischemic heart disease for some patients admitted for SPECT with suspected but not documented ischemic heart disease. This would indicate a better prognosis and prevent unnecessary further investigations and treatment.

  12. 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

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

    Directory of Open Access Journals (Sweden)

    B.J.M. Mulder

    2010-12-01

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

  14. Two-photon microscopy-guided femtosecond-laser photoablation of avian cardiogenesis: Noninvasive creation of localized heart defects

    OpenAIRE

    Yalçın, Hüseyin Çağatay; Shekhar, Akshay; Nishimura, Nozomi; Rane, Ajinkya A.; Schaffer, Chris B.; Butcher, Jonathan T.

    2010-01-01

    Embryonic heart formation is driven by complex feedback between genetic and hemodynamic stimuli. Clinical congenital heart defects (CHD), however, often manifest as localized microtissue malformations with no underlying genetic mutation, suggesting that altered hemodynamics during embryonic development may play a role. An investigation of this relationship has been impaired by a lack of experimental tools that can create locally targeted cardiac perturbations. Here we have developed noninvasi...

  15. PKA dependent p-Ser-675β-catenin, a novel signaling defect in a mouse model of Congenital Hepatic Fibrosis

    OpenAIRE

    Spirli, Carlo; Locatelli, Luigi; Morell, Carola M.; Fiorotto, Romina; Morton, Stuart D.; Cadamuro, Massimiliano; Fabris, Luca; Strazzabosco, Mario

    2013-01-01

    Genetically-determined loss of fibrocystin function causes Congenital Hepatic Fibrosis (CHF), Caroli Disease (CD) and Autosomal Recessive Polycystic Kidney Disease (ARPKD). Cystic dysplasia of the intrahepatic bile ducts and progressive portal fibrosis characterize liver pathology in CHF/CD. At a cellular level, several functional morphological and signaling changes have been reported including increased levels of 3′-5′-cyclic adenosine monophosphate (cAMP). In this study, we have addressed t...

  16. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

    Science.gov (United States)

    ... congenital ichthyosiform erythroderma and lamellar ichthyosis. Clin Exp Dermatol. 2003 May;28(3):235-40. Review. Citation ... ichthyoses: the underlying genetic defects and pathomechanisms. J Dermatol Sci. 2006 May;42(2):83-9. Epub ...

  17. 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

  18. [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

  19. Isolated congenital tracheal stenosis in a preterm newborn.

    Science.gov (United States)

    Krause, Ulrich; Rödel, Ralph M W; Paul, Thomas

    2011-09-01

    Severe tracheal stenosis, resulting in functional atresia of the trachea is a rare congenital malformation with an estimated occurrence of two in 100,000 newborns. If no esophagotracheal fistula is present to allow for spontaneous breathing, this condition is usually fatal. We report on a male infant born at 32 weeks of gestation. The patient presented with respiratory distress immediately after delivery due to severe congenital tracheal stenosis resulting in functional atresia of the trachea. Endotracheal intubation failed and even emergency tracheotomy did not allow ventilation of the patient lungs. The patient finally succumbed to prolonged hypoxia due to functional tracheal atresia. The etiology of tracheal atresia and tracheal stenosis is still unclear, but both conditions are frequently combined with other anomalies of the VACTERL (vertebral anomalies, anal atresia, cardiovascular anomalies, tracheoesophageal fistula, esophageal atresia, renal/radial anomalies and limb defects) and TACRD (tracheal agenesis, cardiac, renal and duodenal malformations) association. Conclusion Successful treatment of severe congenital tracheal stenosis and tracheal atresia depends on either prenatal diagnosis or recognition of this condition immediately after birth to perform tracheotomy without delay. Nevertheless, despite any efforts, the therapeutical results of severe tracheal stenosis and tracheal atresia are still unsatisfactory. PMID:21590265

  20. Defeitos congênitos e exposição a agrotóxicos no Vale do São Francisco Congenital defects and exposure to pesticides in São Francisco Valley

    Directory of Open Access Journals (Sweden)

    Silvio Romero Gonçalves e Silva

    2011-01-01

    Full Text Available OBJETIVO: avaliar a associação entre a exposição dos genitores aos agrotóxicos e nascimentos com defeitos congênitos no Vale do São Francisco, bem como o perfil sociodemográfico e os defeitos encontrados. MÉTODOS: estudo tipo caso-controle, sendo que para cada caso (recém-nascido com defeito congênito, eram dois controles (recém-nascidos saudáveis nascidos na cidade de Petrolina, no Vale do São Francisco, em 2009. A amostra constou de 42 casos e 84 controles. Os dados formam colhidos com uso de questionário estruturado, adaptado do Estudo Colaborativo Latino-Americano de Malformações Congênitas (ECLAMC, acrescido de questões relacionadas à exposição aos agrotóxicos, análise do prontuário e contato com a pediatra do hospital. Foi realizado o teste do χ2 com nível de significância de 5% para identificar as variáveis com maiores diferenças entre os grupos caso e controle. Em seguida, foi calculado o Odds Ratio (OR amostral, bem como o OR obtido por análise de regressão logística e, finalmente, realizou-se uma análise de regressão logística multivariada. RESULTADOS: houve maior exposição aos agrotóxicos durante a gestação em neonatos com defeitos congênitos se comparados aos saudáveis. Maior risco foi observado quando pelo menos um dos genitores foi exposto aos agrotóxicos (OR ajustado = 1,3; IC95% = 0,4-3,9. As variáveis sociodemográficas associadas aos defeitos congênitos foram: baixa escolaridade, baixo peso, prematuridade, genitores jovens, doenças crônicas e fatores físicos. Foram encontrados com maior frequência os polimalformados e os defeitos dos sistemas musculoesquelético e nervoso. CONCLUSÃO: o presente estudo, a despeito de não apresentar significância, sugere associação entre a exposição aos agrotóxicos e a ocorrência de defeitos congênitos.PURPOSE: to evaluate associations between parental exposure to pesticides and births with congenital defects in São Francisco Valley, as

  1. Congenital malformations in newborns of alcoholic mothers

    OpenAIRE

    Maria dos Anjos Mesquita; Conceição Aparecida de Mattos Segre

    2010-01-01

    Objective: To identify the presence of fetal alcohol syndrome, other alcohol-related congenital defects, and/or neurodevelopment disorders in newborns of mothers who consumed alcohol during gestation. Methods: In a public maternity in the city of São Paulo, 1,964 puerperal women were interviewed and 654 had consumed alcohol at some point during gestation. The newborns were clinically and laboratorially examined in order to identify the occurrence of fetal alcohol syndrome, congenital defects ...

  2. 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.

  3. ICU先天性心脏病患儿术后医院感染的特征分析%Analysis of features for nosocomial infections of children with congenital heart disease after cardiac surgery in ICU

    Institute of Scientific and Technical Information of China (English)

    王本极; 林孟相; 陈如杰; 郭献阳; 金胜威; 程碧环

    2014-01-01

    OBJECTIVE To study the clinical features for postoperative nosocomial infections in the children with congenital heart disease who underwent cardiac surgery in ICU ,and to take corresponding prevention so as to de‐crease the incidence rate of nosocomial infections .METHODS A total of 378 children with congenital heart disease who underwent cardiac surgery were enrolled from Jan .2011 to Dec .2012 in ICU .The postoperative nosocomial infection rates ,pathogen distributions and risk factors were correlatively analyzed .SPSS 17 .0 was adopted for a statistic analysis .RESULTS The incidence rate of nosocomial infections in the children with congenital heart dis‐ease undergoing cardiac surgery was 5 .56% (21/378) .Totally 31 strains of bacteria were isolated ,among which mainly were Burkholderiacepacia and Escherichiacoli strains ,equally accounting for 16 .13% .The univariate a‐nalysis showed that the related risk factors of postoperative nosocomial infections was correlated with the age , length of ICU stay ,operation duration ,blood transfusion ,mechanical ventilation duration ,chest drainage time and catheterization duration .The multivariate logistic regression analysis indicated that the length of ICU stay , operation duration ,blood transfusion ,mechanical ventilation duration ,chest drainage time and catheterization du‐ration were the significant risk factors for the postoperative nosocomial infections .CONCLUSION The hospital should take the corresponding prevention and control measures targeted to the related risk factors so as to reduce the incidence of nosocomial infections .%目的:探讨先天性心脏病患儿术后在IC U发生医院感染的临床特征及预防措施,以期减少医院感染的发生率。方法收集2011年1月-2012年12月IC U先天性心脏病术后监护的378例患儿,观察其术后医院感染的发生率、病原菌的分布与医院感染因素进行相关性分析,采用SPSS17.0

  4. [Congenital thrombophilia].

    Science.gov (United States)

    Kojima, Tetsuhito

    2016-03-01

    Congenital thrombophilia is a thrombotic diathesis caused by a variety of genetic abnormalities in blood coagulation factors or their inhibitory factors associated with physiological thrombus formation. Patients with congenital thrombophilia often present with unusual clinical episodes of venous thrombosis (occasionally combined with pulmonary embolism, known as venous thromboembolism) at a young age and recurrence in atypical vessels, such as the mesenteric vein and superior sagittal sinus, often with a family history of this condition. Studies in Japan as well as in western countries have shown congenital thrombophilia to be caused by a wide variety of genetic abnormalities in natural anticoagulant proteins, such as antithrombin, protein C, and protein S. However, there may still be many unknown causes of hereditary thrombosis. We recently reported a case of hereditary thrombosis induced by a novel mechanism of antithrombin resistance, that is, congenital thrombophilia caused by a gain-of-function mutation in the gene encoding the coagulation factor prothrombin. PMID:27076244

  5. Congenital toxoplasmosis

    Science.gov (United States)

    Congenital toxoplasmosis is a group of symptoms that occur when an unborn baby (fetus) is infected with the parasite ... Toxoplasmosis infection can be passed to a developing baby if the mother becomes infected while pregnant. The ...

  6. Congenital syphilis

    Science.gov (United States)

    Congenital syphilis is caused by the bacteria Treponema pallidum , which is passed from mother to child during fetal development or at birth. Nearly half of all children infected with syphilis while they ...

  7. 先心病心脏重构患者血清血管紧张素转化酶2水平研究%The Serum Levels of Angiotensin-converting Enzyme2 in Patients of Congenital Heart Disease with Cardiac Remodeling

    Institute of Scientific and Technical Information of China (English)

    郭玥; 吕宁; 尹小龙

    2013-01-01

    目的 观察先心病(congenital heart disease,CHD)伴心脏重构(Cardiac remodeling)患者血管紧张素转化酶2 (angiotensin-convertirg enzyrre 2,ACE2)含量和活性的变化,探讨它们与心脏重构的关系.方法 收集被确诊为先心病的患者104例, (其中无心脏重构组80例,合并心脏重构组24例),正常对照组33例.抽取受试者静脉血,应用酶联免疫吸附法(ELISA)检测血清ACE2酶含量,用比色法检测ACE2酶活性的水平,所得实验数据使用SPSS统计软件进行分析.结果 (1)正常对照组、先心病无心脏重构组、先心病心脏重构组ACE2酶含量测定值分别为(15.79± 5.03) U/L、(18.85±6.46) U/L、(14.80±4.58) U/L.正常对照组与先心病无心脏重构组比较,ACE2含量差异有统计学意义(P<0.05);正常对照组与先心病心脏重构组比较,ACE2含量无差异(P>0.05);先心病无心脏重构组与心脏重构组比较,ACE2含量差异有统计学意义(P<0.01); (2)正常对照组、先心病无心脏重构组、先心病心脏重构组ACE2酶活性测定值分别为(1.75±0.82) U/L、(1.85±0.62) U/L、(158±0.52) U/L,3组间比较差异无统计学意义(P>0.05).结论 (1)先心病无心脏重构患者血清中的ACE2酶含量显著升高; (2)先心病无心脏重构患者与心脏重构患者血清中ACE2酶活性无变化.%Objective To observe the Angiotensin-converting enzyme2 (ACE2) protein contents and activity in the serum of patients with Congenital Heart Disease (CHD) combined with cardiac remodeling (CR) , and investigate the correlation of those with cardiac remodeling. Methods 104 patients with Congenital Heart Disease and 33 normal control patients were collected. The patients with congenital heart disease were divided into 80 cases of non-cardiac remodeling group, and 24 cases of cardiac remodeling group. The serum levels of ACE2 protein were detected by enzyme-linked immunosorbent assay ( ELISA) , ACE2 activity was detected by colorimetric

  8. Fourier analysis of multi-gated cardiac blood-pool data in patients with congenital heart diseases, (2). Assessment of diseases with complex cardiac anomalies, especially tetralogy of Fallot

    Energy Technology Data Exchange (ETDEWEB)

    Takeda, Kan; Maeda, Hisato; Yamaguchi, Nobuo; Nakamura, Kazuyoshi; Matsumura, Kaname; Nakagawa, Tsuyoshi; Sakurai, Minoru; Aoki, Kenzo

    1985-04-01

    The clinical usefulness of Fourier analysis of multi-gated cardiac blood-pool data was evaluated in 18 subjects with normal cardiac functions and 14 patients with complex cardiac anomalies (ten with tetralogy of Fallot, two with tricuspid atresia (TA), one with double-outlet right ventricle (DORV), and one with Ebstein's anomaly (EA)). Using global ventricular time-activity curves, the phase and amplitude at fundamental frequency were calculated, and emptying patterns of the left and right ventricles (LV, RV) were evaluated by phase difference (D(phase)=RV phase minus LV phase) and amplitude ratio of RV to LV (R(amp)). In patients with TOF, mean values of D (phase) and R(amp) were 25.3 +- 10.5 degrees and 13.5 +- 0.49 respectively and significantly larger than those of normal subjects. D (phase) became larger in inverse proportion to the ratio of pulmonary-to-systemic blood flow and there was an inverse linear correlation between these two variables. On visual interpretation of functional images, the dynamic property of hypoplastic ventricles could be easily estimated in patients with TA or DORV. In a case with EA, the atrialized RV was shown clearly as a hypokinetic, atrial phase area. This method is valuable for pathophysiologic investigation of diseases with complex cardiac anomalies. (author).

  9. The value of right lateral decubitus position to decrease artificial defect of cardiac anterior wall in 99Tcm-MIBI SPECT myocardial perfusion imaging for women

    International Nuclear Information System (INIS)

    Objective: To explore the value of right lateral decubitus position MPI for differentiating myocardial perfusion defect from cardiac anterior wall attenuation artificial defect, caused by breast of woman. Methods: Forty-nine patients(average age (61.5±8.4) years) who had low likelihood of coronary artery disease and had perfusion defect in the anterior wall after exercise stress 99Tcm-MIBI MPI were included. All underwent supine and right lateral decubitus position during resting SPECT images. The myocardial perfusion SPECT images at left ventricle were reconstructed and were measured by Bull's-eye, based on the counts. Results from both supine position imaging and right lateral decubitus position imaging were compared. Paired t test was used to statistically analyse the data by SPSS 13.0. Results: Compared with supine position, the counts of the anterior, inferior, apex and lateral wall in right lateral decubitus position were significantly higher: (71.30±3.53)% vs (66.50±3.85)%, (70.06±4.45)% vs (65.44±4.16)%, (77.90±3.00)% vs (75.81±4.08)%,(79.30±2.26)% vs (72.60±3.87)% (t=6.731, 5.286, 3.555, 10.885, all P<0.01). The counts of septal wall were significantly lower ((66.60±3.98)% vs (70.06±4.51)%, t=-4.625, P<0.01) in right lateral decubitus position than that in supine position. Among the different regions of anterior wall, the counts of the anterior-middle ((76.40 ± 3.80)% vs (68.60 ± 4.76)%) and anterior-apex region ((77.10±3.24)% vs (69.00±3.54)%) were significantly higher (t=9.916, 8.870, both P<0.01) in right lateral decubitus position than those in supine position, but there was insignificance ((56.94±6.06)% vs (58.50±4.98)%, t=-1.493, P>0.05) at anterior-basal region. The artificial defect of different degrees in anterior wall was observed in all patients in supine position, 23 cases (46.9%, 23/49) showed artificial defect in the anterior-middle region and 16 cases (32.7%, 16/49) in the anterior-apex region. All artificial defect

  10. Comparison of the Degree of Exercise Tolerance in Children After Surgical Treatment of Complex Cardiac Defects, Assessed Using Ergospirometry and the Level of Brain Natriuretic Peptide

    Science.gov (United States)

    Mazurek, Boguslaw; Szydlowski, Leslaw; Mazurek, Magdalena; Markiewicz-Loskot, Grazyna; Pajak, Jacek; Morka, Aleksandra

    2016-01-01

    Abstract Children who underwent surgery for complex congenital heart defects present worse exercise capacity than their healthy peers. In adults and adolescents, heart failure is assessed on the basis of clinical symptoms using the New York Heart Association (NYHA) score, while in an infant Ross scale; heart failure can also be evaluated by other parameters. The purpose of this study was to compare the degree of exercise tolerance in children after surgery for complex heart defects, assessed by the ratio of maximum oxygen uptake (VO2max) and the brain natriuretic peptide (N-terminal fragment of the prohormone brain-type natriuretic peptide [NT-proBNP]) concentration. The study group consisted of 42 children, ages 9 to 17 years (mean 14.00 ± 2.72). Among them there were 22 children with tetralogy of Fallot (ToF) after total correction, 18 children with transposition of the great arteries (d-TGA) after the arterial switch operation, and 2 children with single ventricle (SV) after the Fontan operation. All but 1 child were in NYHA class I. The control group consisted of 20 healthy children. Outcomes of interest were the ratio of VO2max, determined during ergospirometry, and the level of NT-proBNP. The statistical analysis was performed and the groups were considered significantly different for P < 0.05. There was no statistically significant correlation between NT-proBNP and maximum oxygen uptake (VO2) kg−1 min−1 in the study group compared with the control group. The VO2max in the test group had a mean value less (34.6 ± 8.0) than controls (38.4 ± 7.7), and the differences were statistically significant (P = 0.041). In contrast, the average concentration of NT-proBNP in the study group was higher than controls (117.9 ± 74.3 vs 18.0 ± 24.5), and these differences were statistically significant (P < 0.001). After operations for complex heart defects (ToF, TGA, and SV), children have worse heart function parameters and exercise

  11. 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...

  12. Investigation of Copy Number Variation in Children with Conotruncal Heart Defects

    Energy Technology Data Exchange (ETDEWEB)

    Campos, Carla Marques Rondon, E-mail: carlamcampos@uol.com.br [Universidade Federal de Mato Grosso, Cuiabá, MT (Brazil); Zanardo, Evelin Aline; Dutra, Roberta Lelis [Departamento de Patologia - Laboratório de Citogenômica - LIM 03 - Universidade de São Paulo, São Paulo, SP (Brazil); Kulikowski, Leslie Domenici [Universidade de São Paulo, São Paulo, SP (Brazil); Departamento de Patologia - Laboratório de Citogenômica - LIM 03 - Universidade de São Paulo, São Paulo, SP (Brazil); Kim, Chong Ae [Universidade de São Paulo, São Paulo, SP (Brazil)

    2015-01-15

    Congenital heart defects (CHD) are the most prevalent group of structural abnormalities at birth and one of the main causes of infant morbidity and mortality. Studies have shown a contribution of the copy number variation in the genesis of cardiac malformations. Investigate gene copy number variation (CNV) in children with conotruncal heart defect. Multiplex ligation-dependent probe amplification (MLPA) was performed in 39 patients with conotruncal heart defect. Clinical and laboratory assessments were conducted in all patients. The parents of the probands who presented abnormal findings were also investigated. Gene copy number variation was detected in 7/39 patients: 22q11.2 deletion, 22q11.2 duplication, 15q11.2 duplication, 20p12.2 duplication, 19p deletion, 15q and 8p23.2 duplication with 10p12.31 duplication. The clinical characteristics were consistent with those reported in the literature associated with the encountered microdeletion/microduplication. None of these changes was inherited from the parents. Our results demonstrate that the technique of MLPA is useful in the investigation of microdeletions and microduplications in conotruncal congenital heart defects. Early diagnosis of the copy number variation in patients with congenital heart defect assists in the prevention of morbidity and decreased mortality in these patients.

  13. Investigation of Copy Number Variation in Children with Conotruncal Heart Defects

    International Nuclear Information System (INIS)

    Congenital heart defects (CHD) are the most prevalent group of structural abnormalities at birth and one of the main causes of infant morbidity and mortality. Studies have shown a contribution of the copy number variation in the genesis of cardiac malformations. Investigate gene copy number variation (CNV) in children with conotruncal heart defect. Multiplex ligation-dependent probe amplification (MLPA) was performed in 39 patients with conotruncal heart defect. Clinical and laboratory assessments were conducted in all patients. The parents of the probands who presented abnormal findings were also investigated. Gene copy number variation was detected in 7/39 patients: 22q11.2 deletion, 22q11.2 duplication, 15q11.2 duplication, 20p12.2 duplication, 19p deletion, 15q and 8p23.2 duplication with 10p12.31 duplication. The clinical characteristics were consistent with those reported in the literature associated with the encountered microdeletion/microduplication. None of these changes was inherited from the parents. Our results demonstrate that the technique of MLPA is useful in the investigation of microdeletions and microduplications in conotruncal congenital heart defects. Early diagnosis of the copy number variation in patients with congenital heart defect assists in the prevention of morbidity and decreased mortality in these patients

  14. Investigation of Copy Number Variation in Children with Conotruncal Heart Defects

    Directory of Open Access Journals (Sweden)

    Carla Marques Rondon Campos

    2015-01-01

    Full Text Available Background: Congenital heart defects (CHD are the most prevalent group of structural abnormalities at birth and one of the main causes of infant morbidity and mortality. Studies have shown a contribution of the copy number variation in the genesis of cardiac malformations. Objectives: Investigate gene copy number variation (CNV in children with conotruncal heart defect. Methods: Multiplex ligation-dependent probe amplification (MLPA was performed in 39 patients with conotruncal heart defect. Clinical and laboratory assessments were conducted in all patients. The parents of the probands who presented abnormal findings were also investigated. Results: Gene copy number variation was detected in 7/39 patients: 22q11.2 deletion, 22q11.2 duplication, 15q11.2 duplication, 20p12.2 duplication, 19p deletion, 15q and 8p23.2 duplication with 10p12.31 duplication. The clinical characteristics were consistent with those reported in the literature associated with the encountered microdeletion/microduplication. None of these changes was inherited from the parents. Conclusions: Our results demonstrate that the technique of MLPA is useful in the investigation of microdeletions and microduplications in conotruncal congenital heart defects. Early diagnosis of the copy number variation in patients with congenital heart defect assists in the prevention of morbidity and decreased mortality in these patients.

  15. The Comparison between the Echocardiographic Data to the Cardiac Catheterization Data on the Diagnosis, Treatment, and Follow-Up in Patients Diagnosed as Pulmonary Valve Stenosis

    OpenAIRE

    Kim, Do Hoon; Park, Su-Jin; Jung, Jo Won; Kim, Nam Kyun; Choi, Jae Young

    2013-01-01

    Background Isolated pulmonary valve stenosis (PS) makes up 6-9% of all congenital heart defects among children. The initial gold standard for diagnosis, follow-up of PS is by echocardiography. However, the most accurate diagnosis still remains to be measurement of the pressure gradient through transcatheterization. The purpose of this study is to compare the difference between the echocardiographic data to the cardiac catheterization data on the diagnosis, treatment, and follow-up in patients...

  16. Pulmonary stenosis development and reduction of pulmonary arterial hypertension in atrioventricular septal defect: a case report

    Directory of Open Access Journals (Sweden)

    Ninet Gérard

    2009-09-01

    Full Text Available Abstract A 24-year-old patient was admitted for dyspnoea and syncope. He had a previous history of complete atrio-ventricular septal defect and trisomy 21. At the age of 6 months, in 1984, cardiac catheterization revealed a quasi-systemic pulmonary arterial hypertension with a bidirectional shunt corresponding to an Eisenmenger syndrome. Corrective cardiac surgery was not performed at this time because surgical risk was considered too high. Until the age of 20 years old, he showed few symptoms while under medical treatment. But since 2006, his functional status became worse with an increased dyspnoea, syncopes, and severe cyanosis. In these conditions, haemodynamic parameters have been re-evaluated in 2006 and 2008. They highlighted a late and progressive development of a valvular and infundibular pulmonary stenosis leading to a normalisation of pulmonary arterial pressures. At the age of 24 , the patient underwent corrective cardiac surgery which was successful. Late development of both infundibular and valvular pulmonary stenosis have not been described before in non operated congenital ventricular septal defects, but development of one or the other abnormality would be found in 8% of patients. The physiopathological mechanism of this obstruction is unclear. Nevertheless, in unoperated congenital cardiac shunt lesions, reversibility of severe pulmonary arterial hypertension should be reconidered and re-assessed during follow up.

  17. Ventricular Tachycardia in Congenital Pulmonary Stenosis.

    Science.gov (United States)

    Ruckdeschel, Emily Sue; Schuller, Joseph; Nguyen, Duy Thai

    2016-03-01

    With modern surgical techniques, there is significantly increased life expectancy for those with congenital heart disease. Although congenital pulmonary valve stenosis is not as complex as tetralogy of Fallot, there are many similarities between the 2 lesions, such that patients with either of these conditions are at risk for ventricular arrhythmias and sudden cardiac death. Those patients who have undergone surgical palliation for congenital pulmonary stenosis are at an increased risk for development of ventricular arrhythmias and may benefit from a more aggressive evaluation for symptoms of palpitations or syncope. PMID:26920196

  18. Congenital Leukemia

    OpenAIRE

    Raj, Aishwarya; Talukdar, Sewali; Das, Smita; Gogoi, Pabitra Kumar; Das, Damodar; Bhattacharya, Jina

    2013-01-01

    Congenital leukemia is a rare but a well-documented disease in which leukemic process is detected at birth or very shortly thereafter (Philip McCoy and Roy Overton, Commun Clin Cytom 22:85–88, 1995). These leukemias represent approximately 0.8 % of all childhood leukemias. We present a case of congenital acute myeloid leukemia manifesting from the very first day of birth. Diagnosis of acute myeloid leukemia was suspected by the presence of blasts in the peripheral blood smear and was confirme...

  19. Pediatric cardiac postoperative care

    Directory of Open Access Journals (Sweden)

    Auler Jr. José Otávio Costa

    2002-01-01

    Full Text Available The Heart Institute of the University of São Paulo, Medical School is a referral center for the treatment of congenital heart diseases of neonates and infants. In the recent years, the excellent surgical results obtained in our institution may be in part due to modern anesthetic care and to postoperative care based on well-structured protocols. The purpose of this article is to review unique aspects of neonate cardiovascular physiology, the impact of extracorporeal circulation on postoperative evolution, and the prescription for pharmacological support of acute cardiac dysfunction based on our cardiac unit protocols. The main causes of low cardiac output after surgical correction of heart congenital disease are reviewed, and methods of treatment and support are proposed as derived from the relevant literature and our protocols.

  20. 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

  1. 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

  2. Helical CT of congenital ossicular anomalies

    International Nuclear Information System (INIS)

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

  3. Pediatric cardiac surgery in developing countries.

    Science.gov (United States)

    Rao, Suresh G

    2007-01-01

    Pediatric cardiac surgery in developing countries is a major challenge. It is a challenge to employ evolving methods to cater to the surgical needs of a very large number of children with congenital heart defects while dealing with severe budgetary constraints, finding funding to maintain the program, and maintaining quality in the backdrop of constant turnover of trained medical, nursing, and other paramedical personnel. Choosing the best procedure to achieve maximum palliation at lower cost and, when possible, giving priority for one-stage corrective procedures, albeit at a higher risk, calls for practice modifications. Despite improved infrastructure and surgical skills in recent years, in some developing countries, logistics, affordability, late presentation, nutritional issues, staffing, and unfavorable economics continue to negatively influence the overall results compared to those of developed nations. PMID:17486389

  4. Congenital Anomalies in Infant with Congenital Hypothyroidism

    OpenAIRE

    Zahra Razavi; Alireza Yavarikia; Saadat Torabian

    2012-01-01

    bjective: Congenital hypothyroidism is characterized by inadequate thyroid hormone production in newborn infants. Many infants with CH have co-occurring congenital malformations. This is an investigation on the frequency and types of congenital anomalies in infants with congenital hypothyroidism born from May 2006-2010 in Hamadan, west province of Iran.Methods: The Iranian neonatal screening program for congenital hypothyroidism was initiated in May 2005. This prospective descriptive study wa...

  5. Evolutionary origin of cardiac malformations.

    Science.gov (United States)

    Taussig, H B

    1988-10-01

    The author has proposed in previous publications that isolated cardiac malformations have an evolutionary origin. This is partly supported by the fact that isolated cardiac malformations found in humans occur also in other placental mammals as well as in birds. External gross examination of the heart in just over 5,000 birds was carried out during a 3 year period. Anomalies included one instance of duplicate hearts, two specimens in which no heart could be identified and in a fourth, a yellow-rumped warbler, the heart lay in the neck outside of the thoracic cavity. Published reports of similar occurrences of an ectopically placed heart concern birds, cattle and humans. The fact that various species of both placental mammals and birds show evidence of heritability for heart defects, and that these species cannot interbreed, combined with the fact that birds and mammals have many similar malformations, points to either a common external causative factor or a common origin. Genes that code the malformed heart must be transmitted with that part of the genetic makeup common to all birds and mammals. Malformations caused by teratogens produce widespread organ injury to a potentially normal embryo whereas the evolutionary malformation is an organ-specific anomaly in an otherwise normal mammal or bird and occurs in widely separated species. The implications of this theory are important for parents of children with an isolated congenital heart defect who may have ingested one or another drug or chemical or have been exposed to toxins or infectious agents before or after conception of the affected offspring. PMID:3047192

  6. TWO-STAGE SURGICAL TREATMENT OF A CHILD OF ONE YEAR FROM CONGENITAL HEART DISEASE AND BILIARY CIRRHOSIS

    Directory of Open Access Journals (Sweden)

    S. V. Gautier

    2014-01-01

    Full Text Available Aim: Clinical case of successful two-stage surgical treatment of a 1-year-old child with congenital heart disease and biliary cirrhosis is represented in this article. At the first day of life laparotomy was performed because of high intestinal obstruction. Kasai procedure and Roux-en-Y choledochojejunostomy were per- formed on 12th day and at the end of second month of life, respectively. Liver biopsy showed the signs of biliary cirrhosis. At the same time ventricular septal defect and atrial septal defect with pulmonary hyper- tension were diagnosed. The first step of treatment was the surgical septal defects closure. No complications during procedure, cardiopulmonary bypass and post-operative period were registered. There were no nega- tive effects on liver function after cardiac surgery. 11 months later living-donor liver transplantation was performed without any complications. Patient was discharged at 35th post-transplant day with stable graft function. 

  7. Global N-linked Glycosylation is Not Significantly Impaired in Myoblasts in Congenital Myasthenic Syndromes Caused by Defective Glutamine-Fructose-6-Phosphate Transaminase 1 (GFPT1

    Directory of Open Access Journals (Sweden)

    Qiushi Chen

    2015-10-01

    Full Text Available Glutamine-fructose-6-phosphate transaminase 1 (GFPT1 is the first enzyme of the hexosamine biosynthetic pathway. It transfers an amino group from glutamine to fructose-6-phosphate to yield glucosamine-6-phosphate, thus providing the precursor for uridine diphosphate N-acetylglucosamine (UDP-GlcNAc synthesis. UDP-GlcNAc is an essential substrate for all mammalian glycosylation biosynthetic pathways and N-glycan branching is especially sensitive to alterations in the concentration of this sugar nucleotide. It has been reported that GFPT1 mutations lead to a distinct sub-class of congenital myasthenic syndromes (CMS termed “limb-girdle CMS with tubular aggregates”. CMS are hereditary neuromuscular transmission disorders in which neuromuscular junctions are impaired. To investigate whether alterations in protein glycosylation at the neuromuscular junction might be involved in this impairment, we have employed mass spectrometric strategies to study the N-glycomes of myoblasts and myotubes derived from two healthy controls, three GFPT1 patients, and four patients with other muscular diseases, namely CMS caused by mutations in DOK7, myopathy caused by mutations in MTND5, limb girdle muscular dystrophy type 2A (LGMD2A, and Pompe disease. A comparison of the relative abundances of bi-, tri-, and tetra-antennary N-glycans in each of the cell preparations revealed that all samples exhibited broadly similar levels of branching. Moreover, although some differences were observed in the relative abundances of some of the N-glycan constituents, these variations were modest and were not confined to the GFPT1 samples. Therefore, GFPT1 mutations in CMS patients do not appear to compromise global N-glycosylation in muscle cells.

  8. Congenital diplopodia

    Energy Technology Data Exchange (ETDEWEB)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam [University of California, Davis, Department of Radiology, 4860 Y. Street, Suite 3100, CA 95817, Davis (United States)

    2003-11-01

    Diplopodia, or duplicated foot, is a rare congenital anomaly. It differs from polydactyly in that supernumerary metatarsal and tarsal bones are present as well as extra digits. Only a few cases of this anomaly have been reported in the literature to date. We present a newborn male without intrauterine teratogen exposure who was born with a duplicate foot of the left lower extremity and imperforate anus. (orig.)

  9. Congenital anomalies of the coronary sinus: A pictorial essay

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Jung Eun; Kwon, Se Hwan; Oh, Joo Hyeong [Dept. of Radiology, College of Medicine, Kyung Hee University, Seoul (Korea, Republic of)

    2013-07-15

    Congenital anomalies involving the coronary sinus (CS) tend to receive relatively little attention because they rarely cause clinical symptoms or disturbances of cardiac function. However, as imaging modalities have been developed over time, the detailed anatomy of the heart, including CS anomalies, can now be evaluated more precisely. The purpose of this pictorial review is to illustrate multi-detector computed tomography findings of various congenital anomalies of the CS. The cardiac venous system and its embryologic development are also described in detail to familiarize radiologists with various congenital anomalies of the CS.

  10. Congenital anomalies of the coronary sinus: A pictorial essay

    International Nuclear Information System (INIS)

    Congenital anomalies involving the coronary sinus (CS) tend to receive relatively little attention because they rarely cause clinical symptoms or disturbances of cardiac function. However, as imaging modalities have been developed over time, the detailed anatomy of the heart, including CS anomalies, can now be evaluated more precisely. The purpose of this pictorial review is to illustrate multi-detector computed tomography findings of various congenital anomalies of the CS. The cardiac venous system and its embryologic development are also described in detail to familiarize radiologists with various congenital anomalies of the CS.

  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. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S. [Department of Diagnostic Imaging, Hospital for Sick Children, 555 University Avenue, M5G 1X8, Toronto, Ontario (Canada)

    2003-09-01

    A congenital extrahepatic portosystemic shunt (CEPS) is uncommon. A type 1 CEPS exists where there is absence of intrahepatic portal venous supply and a type 2 CEPS where this supply is preserved. The diagnosis of congenital portosystemic shunt is important because it may cause hepatic encephalopathy. To describe the clinical and imaging features of three children with CEPS and to review the cases in the published literature. The diagnostic imaging and medical records for three children with CEPS were retrieved and evaluated. An extensive literature search was performed. Including our cases, there are 61 reported cases of CEPS, 39 type 1 and 22 type 2. Type 1 occurs predominantly in females, while type 2 shows no significant sexual preponderance. The age at diagnosis ranges from 31 weeks of intrauterine life to 76 years. Both types of CEPS have a number of associations, the most common being nodular lesions of the liver (n=25), cardiac anomalies (n=19), portosystemic encephalopathy (n=10), polysplenia (n=9), biliary atresia (n=7), skeletal anomalies (n=5), and renal tract anomalies (n=4). MRI is recommended as an important means of diagnosing and classifying cases of CEPS and examining the associated cardiovascular and hepatic abnormalities. Screening for CEPS in patients born with polysplenia is suggested. (orig.)

  13. 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.

  14. [Axillary approach for surgical closure of atrial septal defect].

    Science.gov (United States)

    Gil-Jaurena, J M; Castillo, R; Zabala, J I; Conejo, L; Cuenca, V; Picazo, B

    2013-08-01

    Mid-line sternotomy is the routine approach for surgical repair of congenital heart diseases. However, its noticeable scar is a constant reminder of having undergone heart surgery. Several alternative approaches have been developed for simple cardiac conditions to hide the scar. Our series, consisting of 26 patients with axillary closure of atrial septal defect, is presented. The median age was 5.45 years (range 3-13), and median weight was 19.84 Kg. (range 13-37). The defect was closed directly in 13 cases, and with an autologous pericardial patch in the other 13. The number of surgical steps and time taken were the same as in median sternotomy. Functional recovery, intensive care unit stay, and hospital discharge were also standard. The cosmetic result, assessed both by patients and relatives, was excellent. PMID:23462094

  15. Right congenital pleuro-peritoneal hiatus hernia

    Directory of Open Access Journals (Sweden)

    Sankar DK

    2009-12-01

    Full Text Available Congenital diaphragmatic hernias are of various types which are due to the defect in the diaphragm and can be encountered in any period of life. Left mediastinal shift with right congenital diaphragmatic hernia is rare and life threatening malformation. We describe a case of right congenital diaphragmatic hernia of a newborn male infant, which died shortly after birth. The lobes of the liver were enlarged and occupied whole of the abdominal cavity. The stomach and intestinal loops were herniated into the right pleural cavity and partly into the left pleural cavity. Severe hypoplastic right lung, trilobed left lung and dextrocardia also were observed.

  16. Live dynamic OCT imaging of cardiac structure and function in mouse embryos with 43 Hz direct volumetric data acquisition

    Science.gov (United States)

    Wang, Shang; Singh, Manmohan; Lopez, Andrew L.; Wu, Chen; Raghunathan, Raksha; Schill, Alexander; Li, Jiasong; Larin, Kirill V.; Larina, Irina V.

    2016-03-01

    Efficient phenotyping of cardiac dynamics in live mouse embryos has significant implications on understanding of early mammalian heart development and congenital cardiac defects. Recent studies established optical coherence tomography (OCT) as a powerful tool for live embryonic heart imaging in various animal models. However, current four-dimensional (4D) OCT imaging of the beating embryonic heart largely relies on gated data acquisition or postacquisition synchronization, which brings errors when cardiac cycles lack perfect periodicity and is time consuming and computationally expensive. Here, we report direct 4D OCT imaging of the structure and function of cardiac dynamics in live mouse embryos achieved by employing a Fourier domain mode-locking swept laser source that enables ~1.5 MHz A-line rate. Through utilizing both forward and backward scans of a resonant mirror, we obtained a ~6.4 kHz frame rate, which allows for a direct volumetric data acquisition speed of ~43 Hz, around 20 times of the early-stage mouse embryonic heart rate. Our experiments were performed on mouse embryos at embryonic day 9.5. Time-resolved 3D cardiodynamics clearly shows the heart structure in motion. We present analysis of cardiac wall movement and its velocity from the primitive atrium and ventricle. Our results suggest that the combination of ultrahigh-speed OCT imaging with live embryo culture could be a useful embryonic heart phenotyping approach for mouse mutants modeling human congenital heart diseases.

  17. Sudden cardiac death

    Directory of Open Access Journals (Sweden)

    Aranđelović Aleksandra Č.

    2004-01-01

    Full Text Available Sudden cardiac death in an athlete is rare and tragic event. An athlete's death draws high public attention given that athletes are considered the healthiest category of society. The vast majority of sudden cardiac death in young athletes is due to congenital cardiac malformations such as hypertrophie cardiomyopathy and various coronary artery anomalies. In athletes over age 35, the usual cause of sudden cardiac death is coronary artery disease. With each tragic death of a young athlete, there is a question why this tragedy has not been prevented. The American College of Sports Medicine and the American Heart Association recommend that a pre-participation exam should include a complete cardiovascular history and physical examination.

  18. 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,...

  19. Congenital syphilis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don [Chosun University College of Medicine, Kwangju (Korea, Republic of)

    1983-12-15

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  20. Congenital syphilis

    International Nuclear Information System (INIS)

    In recent years, marked increase in incidence of congenital syphilis has occurred throughout the world due to changes in social norms and development of penicillin-resistant strains. Early diagnosis plays an important role in congenital syphilis as the clinical manifestations may simulate many other conditions in the paediatric age group. The authors analyzed 52 cases of congenital syphilis admitted to the department of paediatrics, Chosun University Hospital, clinically and radiologically. Among them, 18 cases were born in this hospital and 34 cases were admitted from OPD, during the period of 8 years from January, 1975 to December, 1982. The results obtained were as follows; 1. In 28 of 34 cases (82%), the first clinical manifestations were below the age of 3 months. 2. Among the 52 cases, a male predominance was observed with a male to female ratio of 2 : 1. 3. The serologic test (VDRL) of the 52 studied cases showed reactive response in 49 cases (94%), and that of syphilitic mothers except 6 cases, reactive in all studied cases. 4. The major manifestations of the 52 cases were bone tenderness (12%) and swelling of the joints (7%) in skeletal system, hepatosplenomegaly (79%) and skin lesions (73%) in extraskeletal one. 5. The radiological skeletal changes were detected in 45 of 52 cases (87%), and the commonest findings were detected in 45 of 52 cases (87%), and the commonest findings were metaphysitis (83%) and periostitis (81%). The most characteristic type of metaphysitis were transverse trophic line (74%) and zone of rarefaction (65%). 6. The commonest bones to be affected were growing metaphyses of the long bones, particulary about the wrist and the knee. The order of frequency were radius (80%), uina (80%), tibia (77%), femur (69%) and humerus (40%)

  1. 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.

  2. 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.

  3. Supravalvular aortic stenosis with sudden cardiac death

    Directory of Open Access Journals (Sweden)

    Pradeep Vaideeswar

    2015-01-01

    Full Text Available Sudden cardiac death (SCD most commonly results from previously undiagnosed congenital, acquired, or hereditary cardiac diseases. Congenital aortic valvular, subvalvular, and supravalvular disease with left ventricular outflow tract obstruction is an important preventable cause of sudden death. This report documents sudden death presumably due to acute myocardial ischemia in a young male with an undiagnosed supravalvular aortic stenosis (SVAS due to a rare association of isolation of coronary sinuses of Valsalva. Congenital supravalvular pulmonary stenosis and mitral valvular dysplasia were also present.

  4. 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...

  5. 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, ...

  6. Anomalies and developmental defects

    International Nuclear Information System (INIS)

    Amonalies and developmental defects in trachea and bronchi (tracheal bronch us, diverticulum of trachea or bronchus, defects due to atresia of bronchial tre e, tracheobronchomegaly), lung vessels (aneurisms of pulmonary artery, agenesia, aplasia and hypoplasia of pulmonary artery,anomalies of pulmonary veins, varico sis of pulmonary veins), pulmonary tissue (lung sequestration, congenital lobar pulmonary emphysema, essential hemosiderosis), have beendescribed. The problems of the diagnosis of the above-mentioned diseases using roentgenograms are consid ered

  7. Toward clinical application of stem cells for cardiac regeneration.

    Science.gov (United States)

    Stubbs, Samantha L; Crook, Jeremy M; Morrison, Wayne A; Newcomb, Andrew E

    2011-03-01

    Heart failure affects more than 10% of the Australian population over age 65, and the ageing population will ensure continued growth of this significant problem. There are various treatment options available, but the growing field of regenerative therapy offers promise to restore or replace tissue lost in those with either congenital or acquired cardiac defects. Stem cells have many potential properties, but they need multiple discussed qualities to succeed in this field such as ease of harvest and multiplication, and most importantly minimal ethical concerns. There are multiple cell types available and one of the challenges will be to find the most appropriate cell type for cardiac regeneration. Cardiac tissue engineering is being explored using both in vitro and in vivo techniques. In vitro methods are primarily limited in terms of the vascularisation and size of the construct. In vivo engineered constructs overcome these limitations in early models, but they are still not ready for human trials. This review aims to provide the reader with an outline of the cell-based and tissue engineering therapies currently being used and developed for cardiac regeneration, as well as some insight into the potential problems that may hamper its progress in the future. PMID:20650685

  8. Cardiac developmental toxicity

    OpenAIRE

    Mahler, Gretchen J.; Jonathan T Butcher

    2011-01-01

    Congenital heart disease is a highly prevalent problem with mostly unknown origins. Many cases of CHD likely involve an environmental exposure coupled with genetic susceptibility, but practical and ethical considerations make nongenetic causes of CHD difficult to assess in humans. The development of the heart is highly conserved across all vertebrate species, making animal models an excellent option for screening potential cardiac teratogens. This review will discuss exposures known to cause ...

  9. Pharyngeal mesoderm regulatory network controls cardiac and head muscle morphogenesis

    Science.gov (United States)

    Harel, Itamar; Maezawa, Yoshiro; Avraham, Roi; Rinon, Ariel; Ma, Hsiao-Yen; Cross, Joe W.; Leviatan, Noam; Hegesh, Julius; Roy, Achira; Jacob-Hirsch, Jasmine; Rechavi, Gideon; Carvajal, Jaime; Tole, Shubha; Kioussi, Chrissa; Quaggin, Susan; Tzahor, Eldad

    2012-01-01

    The search for developmental mechanisms driving vertebrate organogenesis has paved the way toward a deeper understanding of birth defects. During embryogenesis, parts of the heart and craniofacial muscles arise from pharyngeal mesoderm (PM) progenitors. Here, we reveal a hierarchical regulatory network of a set of transcription factors expressed in the PM that initiates heart and craniofacial organogenesis. Genetic perturbation of this network in mice resulted in heart and craniofacial muscle defects, revealing robust cross-regulation between its members. We identified Lhx2 as a previously undescribed player during cardiac and pharyngeal muscle development. Lhx2 and Tcf21 genetically interact with Tbx1, the major determinant in the etiology of DiGeorge/velo-cardio-facial/22q11.2 deletion syndrome. Furthermore, knockout of these genes in the mouse recapitulates specific cardiac features of this syndrome. We suggest that PM-derived cardiogenesis and myogenesis are network properties rather than properties specific to individual PM members. These findings shed new light on the developmental underpinnings of congenital defects. PMID:23112163

  10. Cardiac MRI in children and adolescents who have undergone surgical repair of right-sided congenital heart disease. Automated left ventricular volumes and function analysis and effects of different manual adjustments

    Energy Technology Data Exchange (ETDEWEB)

    Rompel, O.; Janka, R.; May, M.S.; Lell, M.M.; Uder, M.; Hammon, M. [University Hospital Erlangen (Germany). Dept. of Radiology; Gloeckler, M.; Dittrich, S. [University Hospital Erlangen (Germany). Dept. of Pediatric Cardiology; Cesnjevar, R. [University Hospital Erlangen (Germany). Dept. of Pediatric Cardiac Surgery

    2015-12-15

    To evaluate automated segmentation and the effects of different manual adjustments regarding left ventricular parameter quantification in cardiac magnetic resonance (MR) data on children and adolescents who have undergone surgical repair of right-sided congenital heart disease (CHD). Dedicated software (syngo.via, Siemens AG) was used to automatically segment and/or manually adjust the end-diastolic volume (EDV), end-systolic volume (ESV), stroke volume (SV), myocardial mass (MM) and ejection fraction (EF) before/after manual apex/base adjustment (ADJ-step 1) and after manual apex/base/myocardial contour adjustment (ADJ-step 2; reference standard). MR data of 40 patients (13.1 ± 3.1y, 4-17y) with repaired CHD with decreased pulmonary blood flow (CHD-DPBF) were evaluated. Intra- and inter-rater reliability was determined for 10 randomly selected patients. The software correctly detected the left ventricle in 38/40 (95 %) patients. EDV after automated segmentation: 119.1 ± 44.0ml; after ADJ-step 1: 115.8 ± 39.5 ml; after ADJ-step 2: 116.2 ± 39.4 ml. The corresponding results for ESV were 52.0 ± 18.5/49.6 ± 16.9/49.7 ± 16.4 ml; for SV 67.1 ± 28.5/66.2 ± 25.4/66.5 ± 25.5 ml; for EF 55.5 ± 7.3/56.7 ± 6.6/56.7 ± 6.3%; for MM 83.7 ± 35.9/76.2 ± 28.3/74.6 ± 27.2 g. Significant differences were found for ESV/MM/EF comparing the automated segmentation results with these after ADJ-step 1 and ADJ-step 2. No significant differences were found when comparing all results of ADJ-step 1 and ADJ-step 2 or when comparing EDV/SV results. Intra- and inter-rater reliability was excellent. The mean time effort was 63.4 ± 6.9 s for the automated segmentation, 74.2 ± 8.9 s for ADJ-step 1 and 269.5 ± 39.4 s for ADJ-step 2. Automated left ventricular volumes and function analysis in children and adolescents with surgically treated CHD proved to be feasible with excellent intra- and inter-rater reliability. Automated segmentation with manual apex/base adjustment provided

  11. Cardiac MRI in children and adolescents who have undergone surgical repair of right-sided congenital heart disease. Automated left ventricular volumes and function analysis and effects of different manual adjustments

    International Nuclear Information System (INIS)

    To evaluate automated segmentation and the effects of different manual adjustments regarding left ventricular parameter quantification in cardiac magnetic resonance (MR) data on children and adolescents who have undergone surgical repair of right-sided congenital heart disease (CHD). Dedicated software (syngo.via, Siemens AG) was used to automatically segment and/or manually adjust the end-diastolic volume (EDV), end-systolic volume (ESV), stroke volume (SV), myocardial mass (MM) and ejection fraction (EF) before/after manual apex/base adjustment (ADJ-step 1) and after manual apex/base/myocardial contour adjustment (ADJ-step 2; reference standard). MR data of 40 patients (13.1 ± 3.1y, 4-17y) with repaired CHD with decreased pulmonary blood flow (CHD-DPBF) were evaluated. Intra- and inter-rater reliability was determined for 10 randomly selected patients. The software correctly detected the left ventricle in 38/40 (95 %) patients. EDV after automated segmentation: 119.1 ± 44.0ml; after ADJ-step 1: 115.8 ± 39.5 ml; after ADJ-step 2: 116.2 ± 39.4 ml. The corresponding results for ESV were 52.0 ± 18.5/49.6 ± 16.9/49.7 ± 16.4 ml; for SV 67.1 ± 28.5/66.2 ± 25.4/66.5 ± 25.5 ml; for EF 55.5 ± 7.3/56.7 ± 6.6/56.7 ± 6.3%; for MM 83.7 ± 35.9/76.2 ± 28.3/74.6 ± 27.2 g. Significant differences were found for ESV/MM/EF comparing the automated segmentation results with these after ADJ-step 1 and ADJ-step 2. No significant differences were found when comparing all results of ADJ-step 1 and ADJ-step 2 or when comparing EDV/SV results. Intra- and inter-rater reliability was excellent. The mean time effort was 63.4 ± 6.9 s for the automated segmentation, 74.2 ± 8.9 s for ADJ-step 1 and 269.5 ± 39.4 s for ADJ-step 2. Automated left ventricular volumes and function analysis in children and adolescents with surgically treated CHD proved to be feasible with excellent intra- and inter-rater reliability. Automated segmentation with manual apex/base adjustment provided

  12. 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

  13. 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.

  14. 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.

  15. Primary congenital glaucoma associated with Patau syndrome with long survival.

    Science.gov (United States)

    Jaru-Ampornpan, Pimkwan; Kuchtey, John; Dev, V G; Kuchtey, Rachel

    2010-01-01

    Ocular abnormalities are common in Patau syndrome (trisomy 13), but only a few cases with congenital glaucoma have been reported, some of which were associated with other ocular defects. This report describes a case of primary congenital glaucoma in an 11-year-old patient with full trisomy 13. PMID:21080618

  16. 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)

  17. UNILATERAL EXTERNAL AUDITORY CANAL ATRESIA WITH CONGENITAL FACIAL NERVE PALSY : A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Venkata Ramana Rao

    2015-07-01

    Full Text Available Congenital facial palsy is generally due to developmental an o m a ly or acquired cause. Unilateral congenital facial palsy due to developmental defect is most often associated with inner ear abnormalities. We report a rare case of unilateral congenital facial palsy with atresia of pinna and external auditory canal and normally developed middle ear and inner ear structures.

  18. UNILATERAL EXTERNAL AUDITORY CANAL ATRESIA WITH CONGENITAL FACIAL NERVE PALSY : A CASE REPORT

    OpenAIRE

    Venkata Ramana Rao; Sharma,; Subba Rao; Pravin

    2015-01-01

    Congenital facial palsy is generally due to developmental an o m a ly or acquired cause. Unilateral congenital facial palsy due to developmental defect is most often associated with inner ear abnormalities. We report a rare case of unilateral congenital facial palsy with atresia of pinna and external auditory canal and normally developed middle ear and inner ear structures.

  19. Congenital hypothyroidism

    Directory of Open Access Journals (Sweden)

    Pankaj Agrawal

    2015-01-01

    Full Text Available Congenital hypothyroidism (CH is the one of the most common preventable cause of mental retardation. In the majority of patients, CH is caused by an abnormal development of the thyroid gland (thyroid dysgenesis that is a sporadic disorder and accounts for 85% of cases and the remaining 15% of cases are caused by dyshormonogenesis. The clinical features of congenital hypothyroidism are so subtle that many newborn infants remain undiagnosed at birth and delayed diagnosis leads to the most severe outcome of CH, mental retardation, emphasizing the importance of neonatal screening. Dried capillary blood is used for screening and it is taken from heel prick optimally between 2 and 5 days of age. Blood spot TSH or thyroxine (T4 or both are being used for CH screening in different programs around the world. Neonates with abnormal thyroid screening tests should be recalled immediately for examination and a venipuncture blood sample should be drawn for confirmatory serum testing. Confirmatory serum should be tested for TSH and free T4, or total T4. Serum TSH and T4 undergo dynamic changes in the first weeks of life; it is important to compare serum results with age-normal reference ranges. Treatment should be started promptly and infant should be rendered euthyroid as early as possible, as there is an inverse relationship between intelligence quotient (IQ and the age at diagnosis. Levothyroxine (l-thyroxine is the treatment of choice and American academy of pediatrics and European society of pediatric endocrinology recommend 10-15μgm/kg/day as initial dose. The immediate goal of therapy is to normalize T4 within 2 weeks and TSH within one month. The overall goal of treatment is to ensure growth and neurodevelopmental outcomes as close as possible to their genetic potential.

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

    Directory of Open Access Journals (Sweden)

    Valentina Guida

    2010-01-01

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

  1. 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...

  2. Cardiac imaging: Current and emerging applications

    OpenAIRE

    Jankharia B; Raut A

    2010-01-01

    Cardiac magnetic resonance imaging (MRI) and computed tomography (CT) scan have made big inroads as modalities used for evaluation of various pathologies of the heart. Cardiac MRI is typically used for perfusion and viability studies as well as to study various cardiomyopathies, valvular diseases and the pericardium. It has been used in the evaluation of congenital heart diseases over the last two decades. Cardiac CT is used mainly for the evaluation of the coronary arteries, typically in the...

  3. Developmental SHP2 dysfunction underlies cardiac hypertrophy in Noonan syndrome with multiple lentigines.

    Science.gov (United States)

    Lauriol, Jessica; Cabrera, Janel R; Roy, Ashbeel; Keith, Kimberly; Hough, Sara M; Damilano, Federico; Wang, Bonnie; Segarra, Gabriel C; Flessa, Meaghan E; Miller, Lauren E; Das, Saumya; Bronson, Roderick; Lee, Kyu-Ho; Kontaridis, Maria I

    2016-08-01

    Hypertrophic cardiomyopathy is a common cause of mortality in congenital heart disease (CHD). Many gene abnormalities are associated with cardiac hypertrophy, but their function in cardiac development is not well understood. Loss-of-function mutations in PTPN11, which encodes the protein tyrosine phosphatase (PTP) SHP2, are implicated in CHD and cause Noonan syndrome with multiple lentigines (NSML), a condition that often presents with cardiac hypertrophic defects. Here, we found that NSML-associated hypertrophy stems from aberrant signaling mechanisms originating in developing endocardium. Trabeculation and valvular hyperplasia were diminished in hearts of embryonic mice expressing a human NSML-associated variant of SHP2, and these defects were recapitulated in mice expressing NSML-associated SHP2 specifically in endothelial, but not myocardial or neural crest, cells. In contrast, mice with myocardial- but not endothelial-specific NSML SHP2 expression developed ventricular septal defects, suggesting that NSML-associated mutations have both cell-autonomous and nonautonomous functions in cardiac development. However, only endothelial-specific expression of NSML-associated SHP2 induced adult-onset cardiac hypertrophy. Further, embryos expressing the NSML-associated SHP2 mutation exhibited aberrant AKT activity and decreased downstream forkhead box P1 (FOXP1)/FGF and NOTCH1/EPHB2 signaling, indicating that SHP2 is required for regulating reciprocal crosstalk between developing endocardium and myocardium. Together, our data provide functional and disease-based evidence that aberrant SHP2 signaling during cardiac development leads to CHD and adult-onset heart hypertrophy. PMID:27348588

  4. CARDIAC TRANSPLANTATION: AN ANESTHETIC CHALLENGE

    OpenAIRE

    Premalatha; Jayaraman,

    2014-01-01

    : Heart transplantation has emerged as the definitive therapy for patients with end-stage cardiomyopathy. The two most common forms of cardiac disease that lead to transplantation are ischemic cardiomyopathy and dilated cardiomyopathy, which together comprise approximately 90% of cases. The other less common forms of heart disease include viral cardiomyopathy, infiltrative cardiomyopathy, postpartum cardiomyopathy, valvular heart disease and congenital heart disease

  5. Defective ALK5 signaling in the neural crest leads to increased postmigratory neural crest cell apoptosis and severe outflow tract defects

    Directory of Open Access Journals (Sweden)

    Sucov Henry M

    2006-11-01

    Full Text Available Abstract Background Congenital cardiovascular diseases are the most common form of birth defects in humans. A substantial portion of these defects has been associated with inappropriate induction, migration, differentiation and patterning of pluripotent cardiac neural crest stem cells. While TGF-β-superfamily signaling has been strongly implicated in neural crest cell development, the detailed molecular signaling mechanisms in vivo are still poorly understood. Results We deleted the TGF-β type I receptor Alk5 specifically in the mouse neural crest cell lineage. Failure in signaling via ALK5 leads to severe cardiovascular and pharyngeal defects, including inappropriate remodeling of pharyngeal arch arteries, abnormal aortic sac development, failure in pharyngeal organ migration and persistent truncus arteriosus. While ALK5 is not required for neural crest cell migration, our results demonstrate that it plays an important role in the survival of post-migratory cardiac neural crest cells. Conclusion Our results demonstrate that ALK5-mediated signaling in neural crest cells plays an essential cell-autonomous role in the pharyngeal and cardiac outflow tract development.

  6. Seasonality of congenital anomalies in Europe

    DEFF Research Database (Denmark)

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

    2014-01-01

    with influenza. RESULTS: We detected statistically significant seasonality in prevalence of anomalies previously associated with influenza, but the conception peak was in June (2.4% excess). We also detected seasonality in congenital cataract (April conceptions, 27%), hip dislocation and/or dysplasia (April, 12......%), congenital hydronephrosis (July, 12%), urinary defects (July, 5%), and situs inversus (December, 36%), but not for nonchromosomal anomalies combined, chromosomal anomalies combined, or other anomalies analyzed. CONCLUSION: We have confirmed previously described seasonality for congenital cataract and hip...... dislocation and/or dysplasia, and found seasonality for congenital hydronephrosis and situs inversus which have not previously been studied. We did not find evidence of seasonality for several anomalies which had previously been found to be seasonal. Influenza does not appear to be an important factor...

  7. Imaging of congenital diaphragmatic hernias

    International Nuclear Information System (INIS)

    Congenital diaphragmatic hernias are complex and life-threatening lesions that are not just anatomic defects of the diaphragm, but represent a complex set of physiologic derangements of the lung, the pulmonary vasculature, and related structures. Imaging plays an increasingly important role in the care of these infants. Prenatal sonography and MRI have allowed early and accurate identification of the defect and associated anomalies. These tools have also been the key to defining the degree of pulmonary hypoplasia and to predicting neonatal survival and need for aggressive respiratory rescue strategies. In the postnatal period, conventional radiography supplemented by cross-sectional imaging in selected cases can be very useful in sorting out the differential diagnosis of intrathoracic masses, in the detection of associated anomalies, and in the management of complications. Understanding the pathogenesis of diaphragmatic defects, the underlying physiologic disturbances, and the strengths and limitations of current imaging protocols is essential to the effective and accurate management of these complex patients. (orig.)

  8. Congenital hypothyroidism

    Directory of Open Access Journals (Sweden)

    LaFranchi Stephen H

    2010-06-01

    Full Text Available Abstract Congenital hypothyroidism (CH occurs in approximately 1:2,000 to 1:4,000 newborns. The clinical manifestations are often subtle or not present at birth. This likely is due to trans-placental passage of some maternal thyroid hormone, while many infants have some thyroid production of their own. Common symptoms include decreased activity and increased sleep, feeding difficulty, constipation, and prolonged jaundice. On examination, common signs include myxedematous facies, large fontanels, macroglossia, a distended abdomen with umbilical hernia, and hypotonia. CH is classified into permanent and transient forms, which in turn can be divided into primary, secondary, or peripheral etiologies. Thyroid dysgenesis accounts for 85% of permanent, primary CH, while inborn errors of thyroid hormone biosynthesis (dyshormonogeneses account for 10-15% of cases. Secondary or central CH may occur with isolated TSH deficiency, but more commonly it is associated with congenital hypopitiutarism. Transient CH most commonly occurs in preterm infants born in areas of endemic iodine deficiency. In countries with newborn screening programs in place, infants with CH are diagnosed after detection by screening tests. The diagnosis should be confirmed by finding an elevated serum TSH and low T4 or free T4 level. Other diagnostic tests, such as thyroid radionuclide uptake and scan, thyroid sonography, or serum thyroglobulin determination may help pinpoint the underlying etiology, although treatment may be started without these tests. Levothyroxine is the treatment of choice; the recommended starting dose is 10 to 15 mcg/kg/day. The immediate goals of treatment are to rapidly raise the serum T4 above 130 nmol/L (10 ug/dL and normalize serum TSH levels. Frequent laboratory monitoring in infancy is essential to ensure optimal neurocognitive outcome. Serum TSH and free T4 should be measured every 1-2 months in the first 6 months of life and every 3-4 months thereafter

  9. Espectro óculo-aurículo-vertebral em pacientes com defeitos cardíacos congênitos Espectro óculo-aurículo-vertebral en pacientes con defectos cardíacos congénitos Oculo-auriculo-vertebral spectrum in patients with congenital heart defects

    Directory of Open Access Journals (Sweden)

    Rafael Fabiano Machado Rosa

    2010-10-01

    Full Text Available FUNDAMENTO: Há poucos estudos avaliando a frequência do espectro óculo-aurículo-vertebral (EOAV nos pacientes com defeitos cardíacos congênitos (DCC. OBJETIVO: Verificar a frequência do EOAV em uma amostra de pacientes com malformações cardíacas graves. MÉTODOS: Avaliamos uma coorte prospectiva de pacientes com DCC, admitidos em uma unidade de terapia intensiva (UTI cardiopediátrica no Brasil. O diagnóstico de EOAV foi feito com base em dados clínicos, considerando critérios padrões. Os pacientes que preenchiam esses critérios foram submetidos ao cariótipo de alta resolução com bandamento GTG e hibridização fluorescente in situ para a microdeleção 22q11.2. O teste exato de Fisher (P FUNDAMENTO: Hay pocos estudios evaluando la frecuencia del espectro óculo-aurículo-vertebral (EOAV en los pacientes con defectos cardíacos congénitos (DCC. OBJETIVO: Verificar la frecuencia del EOAV en una muestra de pacientes con malformaciones cardíacas graves. MÉTODOS: Evaluamos una cohorte prospectiva de pacientes con DCC, admitidos en una unidad de terapia intensiva (UTI cardiopediátrica en el Brasil. El diagnóstico de EOAV fue hecho con base en datos clínicos, considerando criterios estándares. Los pacientes que llenaban esos criterios fueron sometidos al cariotipo con bandeamiento GTG en alta resolución e Hibridización fluorescente in situ para la microdelección 22q11.2. El Test Exacto de Fisher (P BACKGROUND: There have been few studies evaluating the frequency of oculo-auriculo-vertebral spectrum (OAVS in patients with congenital heart defects (CHDs. OBJECTIVE: To verify the frequency of OAVS in a sample of patients with major heart malformations. METHODS: We evaluated a prospective cohort of patients with CHD admitted in a pediatric cardiac intensive care unit (ICU in Brazil. The diagnosis of OAVS was made based on the clinical data, considering standard criteria. The patients that met these criteria were submitted to

  10. [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

  11. 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

  12. Imaging technique and current status of valvular heart disease using cardiac MRI

    International Nuclear Information System (INIS)

    The main indications for cardiac magnetic resonance imaging (MRI) in the evaluation of valvular heart disease are pathologies of the aortic and pulmonary valve. For mitral and tricuspid valve pathologies MRI is not the first line modality as these are usually well visualized by echocardiography. The advantages of MRI in valvular heart disease are a high reliability in the evaluation of ventricular volumes and function as well as the assessment of the perivalvular arterial or atrial structures. This reliability and the limitless access to any imaging plane partially compensates for the lower temporal and spatial resolution in comparison to echocardiography. In patients with congenital heart disease, cardiac MRI is established as a valuable diagnostic tool in daily clinical management, especially for the evaluation of pulmonary valve defects. Nevertheless, echocardiography remains the first-line diagnostic imaging tool for the foreseeable future. (orig.)

  13. Ebstein’s Anomaly, Left Ventricular Noncompaction, and Sudden Cardiac Death

    Directory of Open Access Journals (Sweden)

    Michael McGee

    2015-01-01

    Full Text Available Ebstein’s anomaly is a congenital disorder characterized by apical displacement of the septal leaflet of the tricuspid valve. Ebstein’s anomaly may be seen in association with other cardiac conditions, including patent foramen ovale, atrial septal defect, and left ventricular noncompaction (LVNC. LVNC is characterized by increased trabeculation within the left ventricular apex. Echocardiography is often used to diagnose LVNC; however, magnetic resonance (MR imaging offers superior characterization of the myocardium. We report a case of sudden cardiac death in a patient with Ebstein’s anomaly with unrecognized LVNC noted on post mortem examination with screening documenting the presence of LVNC in one of the patient’s twin sons.

  14. O conduto valvulado bovino contegra, um biomaterial para o tratamento cirúrgico de cardiopatias congênitas The contegra valved bovine conduit: a biomaterial for the surgical treatment of congenital heart defects

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    2012-12-01

    congenital heart defects, especially as a conduit for the right ventricular outflow tract reconstruction. This article aims to make a comprehensive review on the clinical outcomes of Contegra. Reports of Contegra published since 2002 were comprehensively retrieved, collected and analyzed. There were 1718 Contegra, applied in 1705 patients. The sizes of the conduits were 8-22 mm. The patients aged from newborn to 74.5 years, prevailed by pediatrics. The primary diagnosis was congenital heart defects in all cases, with Tetralogy of Fallot, truncus arteriosus and pulmonary atresia being the first three diagnoses, representing 25.6%, 16.7%, and 13.1%, respectively. Contegra was used as a tube graft in the pulmonary position in 1635 (95.9% patients, as a monocuspid patch in 12 (0.7%, as a graft in the position of the pulmonary valve or a monocusps in 40 (2.3%, and as an inferior vena cava-pulmonary artery conduit in the Fontan procedure in 18 (1.1% patients, respectively. Conduit reimplantation was performed in 141 (8.3% patients 33.8 ± 37 (8.6-106.8 months after the initial conduit insertion. Conduit plasty was necessary in 6 (0.4%, and reintervention in 83 (4.9% patients. Indications for conduit reimplantation included severe stenosis of the distal anastomosis, pseudoaneurysm of the proximal anastomosis and severe conduit regurgitation. As for the good performance, availability and longevity, Contegra is a biomaterial suitable for the right ventricular outflow tract reconstruction and for patch repair for ventricular septal defect, but not apt for Fontan procedure.

  15. O conduto valvulado bovino contegra, um biomaterial para o tratamento cirúrgico de cardiopatias congênitas The contegra valved bovine conduit: a biomaterial for the surgical treatment of congenital heart defects

    Directory of Open Access Journals (Sweden)

    Shi-Min Yuan

    2012-01-01

    congenital heart defects, especially as a conduit for the right ventricular outflow tract reconstruction. This article aims to make a comprehensive review on the clinical outcomes of Contegra. Reports of Contegra published since 2002 were comprehensively retrieved, collected and analyzed. There were 1718 Contegra, applied in 1705 patients. The sizes of the conduits were 8-22 mm. The patients aged from newborn to 74.5 years, prevailed by pediatrics. The primary diagnosis was congenital heart defects in all cases, with Tetralogy of Fallot, truncus arteriosus and pulmonary atresia being the first three diagnoses, representing 25.6%, 16.7%, and 13.1%, respectively. Contegra was used as a tube graft in the pulmonary position in 1635 (95.9% patients, as a monocuspid patch in 12 (0.7%, as a graft in the position of the pulmonary valve or a monocusps in 40 (2.3%, and as an inferior vena cava-pulmonary artery conduit in the Fontan procedure in 18 (1.1% patients, respectively. Conduit reimplantation was performed in 141 (8.3% patients 33.8 ± 37 (8.6-106.8 months after the initial conduit insertion. Conduit plasty was necessary in 6 (0.4%, and reintervention in 83 (4.9% patients. Indications for conduit reimplantation included severe stenosis of the distal anastomosis, pseudoaneurysm of the proximal anastomosis and severe conduit regurgitation. As for the good performance, availability and longevity, Contegra is a biomaterial suitable for the right ventricular outflow tract reconstruction and for patch repair for ventricular septal defect, but not apt for Fontan procedure.

  16. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Help Me Understand Genetics Home Health Conditions congenital hypothyroidism congenital hypothyroidism Enable Javascript to view the expand/collapse ... Genetic Testing Registry: Congenital hypothyroidism Genetic Testing Registry: Hypothyroidism, ... Encyclopedia: Congenital Hypothyroidism These resources ...

  17. 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...

  18. Living with a Congenital Heart Defect

    Science.gov (United States)

    ... The Americans with Disabilities Act and the Work Incentives Improvement Act try to ensure fairness in hiring ... was published online May 12, 2013, in the journal Nature, about the first large-scale sequencing analysis ...

  19. Five Facts about Congenital Heart Defects

    Science.gov (United States)

    ... by: Office of the Associate Director for Communication, Digital Media Branch, Division of Public Affairs Follow CDC Email Recommend Tweet Post RSS CDC Media Listen Watch eCards YouTube About CDC Employment Newsroom Training/Education Funding CDC's Organization Mission and Vision Using this ...

  20. Living with a Congenital Heart Defect

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    ... 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 ...

  1. MORTAL PULPOTOMY ON CHILDREN WITH VENTRICULAR SEPTAL DEFECT

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    Devi N. R. Devy

    2006-04-01

    Full Text Available Congenital heart disease is a condition of heart anomaly found since birth. The most common is ventricular septal defect whereby an aperture is found in the partition of heart chamber. It is estimated that 40,000 newborn in Indonesia have this defective condition. Dental treatment for patients with such condition must be undertaken in a very cautious way. Tooth with multiple caries can potentially lead to endocarditis bacteria. As such, dentist must be watchful on dental treatment that may worsen the patient’s condition. To prevent endocarditis bacteria, a prophylaxis antibiotic is required as recommended by the American Heart Association (AHA. In this particular case, a dental treatment was undertaken to a child patient with congenital heart disease. Previously, the patient has undergone dental treatment in the form of multiple extractions under general anesthesia before conducting cardiac surgery. In this case the treatment includes mortal pulpotomy, GIC restoration, and fissure sealant – all conducted in one visit under general anesthesia. A year after the treatment, there are no complaints from the patient and no irregularity on x-ray results.

  2. Congenital pachygyria

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    Jing-xia HU

    2016-02-01

    Full Text Available Objective To investigate the imaging and clinicopathological features of pachygyria limited in the right temporo-parieto-occipital lobe and the key points of its diagnosis and treatment, in order to improve the recognition of this disease.  Methods and Results A 2-year-old boy was admitted to hospital because of paroxysmal loss of consciousness and convulsion for 18 months with progressive aggravation. MRI showed malformations of cortical development in the right temporo-parieto-occipital lobe. Epileptic foci resection on the right temporo-parieto-occipital lobe was made. Histological examination after operation showed uneven thickening of gray matter, shrinking of white matter and disappearing cortical stratification, while a lot of dysmorphic neurons, balloon cells and scattered balloon cells in white matter appeared. Immunohistochemical staining revealed that dysmorphic neurons were positive for non-phosphorylated neurofilament protein SMI-32, microtubule-associated protein-2 (MAP-2 and vimentin (Vim or neurofilament protein (NF. Both dysmorphic neurons and balloon cells expressed phosphorylated ribosomal S6 protein (RPS6, while the former was stronger than the latter. Balloon cells were not positive for MAP-2 or Vim. No disturbance of consciousness or limb twitches occurred in this patient during one-year follow-up.  Conclusions Congenital pachygyria was cortical dysplasia caused by the early proliferation and migration disorder of brain, and should be distinguished with focal cortical dysplasia (FCD type Ⅱ b and tuberous sclerosis complex (TSC. Clinical history, imaging and histological features should be included in the diagnosis. DOI: 10.3969/j.issn.1672-6731.2016.02.005

  3. Congenital pulmonary lymphangiectasia

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    Campisi Corradino

    2006-10-01

    Full Text Available Abstract Congenital pulmonary lymphangiectasia (PL is a rare developmental disorder involving the lung, and characterized by pulmonary subpleural, interlobar, perivascular and peribronchial lymphatic dilatation. The prevalence is unknown. PL presents at birth with severe respiratory distress, tachypnea and cyanosis, with a very high mortality rate at or within a few hours of birth. Most reported cases are sporadic and the etiology is not completely understood. It has been suggested that PL lymphatic channels of the fetal lung do not undergo the normal regression process at 20 weeks of gestation. Secondary PL may be caused by a cardiac lesion. The diagnostic approach includes complete family and obstetric history, conventional radiologic studies, ultrasound and magnetic resonance studies, lymphoscintigraphy, lung functionality tests, lung biopsy, bronchoscopy, and pleural effusion examination. During the prenatal period, all causes leading to hydrops fetalis should be considered in the diagnosis of PL. Fetal ultrasound evaluation plays a key role in the antenatal diagnosis of PL. At birth, mechanical ventilation and pleural drainage are nearly always necessary to obtain a favorable outcome of respiratory distress. Home supplemental oxygen therapy and symptomatic treatment of recurrent cough and wheeze are often necessary during childhood, sometimes associated with prolonged pleural drainage. Recent advances in intensive neonatal care have changed the previously nearly fatal outcome of PL at birth. Patients affected by PL who survive infancy, present medical problems which are characteristic of chronic lung disease.

  4. Focused Cardiac Ultrasound Diagnosis of Cor Triatriatum Sinistrum in Pediatric Cardiac Arrest

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    Thompson Kehrl,

    2015-10-01

    Full Text Available Cardiac arrest in the adolescent population secondary to congenital heart disease (CHD is rare. Focused cardiac ultrasound (FoCUS in the emergency department (ED can yield important clinical information, aid in resuscitative efforts during cardiac arrest and is commonly integrated into the evaluation of patients with pulseless electrical activity (PEA. We report a case of pediatric cardiac arrest in which FoCUS was used to diagnose a critical CHD known as cor triatriatum sinistrum as the likely cause for PEA cardiac arrest and help direct ED resuscitation.

  5. Disruption of the folate pathway in zebrafish causes developmental defects

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    Lee Marina S

    2012-04-01

    Full Text Available Abstract Background Folic acid supplementation reduces the risk of neural tube defects and congenital heart defects. The biological mechanisms through which folate prevents birth defects are not well understood. We explore the use of zebrafish as a model system to investigate the role of folate metabolism during development. Results We first identified zebrafish orthologs of 12 human folate metabolic genes. RT-PCR and in situ analysis indicated maternal transcripts supply the embryo with mRNA so that the embryo has an intact folate pathway. To perturb folate metabolism we exposed zebrafish embryos to methotrexate (MTX, a potent inhibitor of dihydrofolate reductase (Dhfr an essential enzyme in the folate metabolic pathway. Embryos exposed to high doses of MTX exhibited developmental arrest prior to early segmentation. Lower doses of MTX resulted in embryos with a shortened anterior-posterior axis and cardiac defects: linear heart tubes or incomplete cardiac looping. Inhibition of dhfr mRNA with antisense morpholino oligonucleotides resulted in embryonic lethality. One function of the folate pathway is to provide essential one-carbon units for dTMP synthesis, a rate-limiting step of DNA synthesis. After 24 hours of exposure to high levels of MTX, mutant embryos continue to incorporate the thymidine analog BrdU. However, additional experiments indicate that these embryos have fewer mitotic cells, as assayed with phospho-histone H3 antibodies, and that treated embryos have perturbed cell cycles. Conclusions Our studies demonstrate that human and zebrafish utilize similar one-carbon pathways. Our data indicate that folate metabolism is essential for early zebrafish development. Zebrafish studies of the folate pathway and its deficiencies could provide insight into the underlying etiology of human birth defects and the natural role of folate in development.

  6. Severe birth defects in children perinatal exposed to HIV from a “real-world” setting: Infectious Diseases National Institute, Bucharest, Romania

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    Ana Maria Tudor

    2014-11-01

    Full Text Available Introduction: The shift in epidemic trends in recent years in Romania shows new problems in regard of HIV vertical transmission, firstly in intravenous drug user's mothers co-infected with hepatitis viruses and with social problems, and secondly the children of young mothers with an old HIV infection and long antiretroviral therapy history. Materials and Methods: We studied all HIV perinatal exposed children routinely followed up in the Paediatric Department of the National Institute of Infectious Diseases, since January 1st 2006 till December 31st 2012. The analyses consisted of describing the birth defects and association with certain risk factors: gender, mother's age at birth and exposure to antiretrovirals in the first trimester of pregnancy. Results: We analyzed 244 children born to HIV-infected mothers. The incidence of HIV infection was 16.39%. The rate of birth defects was 39.34% (96/244 cases. The most frequent findings were cardiac malformations (47/96, followed by musculoskeletal defects (24/96, neurologic defects (20/96, urogenital malformations (13/96, digestive tract defects (3/93, metabolic disorders (2/96 and genetic disorders (2/96. We found nine cases of severe congenital anomalies: complex heart defect, total congenital aganglionic megacolon, anal imperforation, Dandy-Walker syndrome, gangliosidosis, Niemann-Pick syndrome, Down syndrome, true hermaphroditism and cleft palate. Two children died during first year of life due to severe malformations. 9% of cases had associated malformations. The gender rate was in favour of males in group with birth defects (58/38 and with no birth defects (82/66. The median age at birth in mothers was 22 years, similar in both groups. The highest mean age at birth was in offspring's mothers with neurologic congenital defects 25, 15 years old, but is not statistically significant (p=0.1. In the studied period the highest number of birth defects were found in 2012, 37 children, compared with less

  7. 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...

  8. Lymphatic Edema in Congenital Disorders of Glycosylation

    OpenAIRE

    Verstegen, Ruud HJ.; Theodore, Miranda; Klerk, Hans; Morava, Eva

    2011-01-01

    Congenital disorders of glycosylation (CDG) are a group of metabolic disorders caused by deficient protein glycosylation. PMM2-CDG, the most common CDG, is caused by phosphomannomutase (PMM) deficiency. Clinical symptoms often include neurological involvement in addition to dysmorphic features, failure to thrive, cardiac failure, renal, and endocrine abnormalities. To our knowledge, lymphatic edema in CDG has not been reported. We present two cases of lymphatic edema in PMM2-CDG patients. The...

  9. Evaluation of neonates with congenital heart disease

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    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 ± ...

  10. 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...

  11. Calcified congenital aneurysm of the left sinus of Valsalva associated with coarctation of the aorta

    International Nuclear Information System (INIS)

    A case of calcified unruptured congenital aneurysm of the left sinus of Valsalva associated with coarctation of the aorta is presented. Routine chest radiographs demonstrated unusual curvilinear calcifications at the cardiac base which were subsequently demonstrated within the aneurysm. (orig.)

  12. Early and Mid-Term Outcome of Pediatric Congenital Mitral Valve Surgery

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    Baghaei, Ramin; Tabib, Avisa; Jalili, Farshad; Totonchi, Ziae; Mahdavi, Mohammad; Ghadrdoost, Behshid

    2015-01-01

    Background: Congenital lesions of the mitral valve are relatively rare and are associated with a wide spectrum of cardiac malformations. The surgical management of congenital mitral valve malformations has been a great challenge. Objectives: The aim of this study was to evaluate the early and intermediate-term outcome of congenital mitral valve (MV) surgery in children and to identify the predictors for poor postoperative outcomes and death. Patients and Methods: In this retrospective study, 100 consecutive patients with congenital MV disease undergoing mitral valve surgery were reviewed in 60-month follow-up (mean, 42.4 ± 16.4 months) during 2008 - 2013. Twenty-six patients (26%) were under one-year old. The mean age and weight of the patients were 41.63 ± 38.18 months and 11.92 ± 6.12 kg, respectively. The predominant lesion of the mitral valve was MV stenosis (MS group) seen in 21% and MR (MR group) seen in 79% of the patients. All patients underwent preoperative two-dimensional echocardiography and then every six months after surgery Results: Significant improvement in degree of MR was noted in all patients with MR during postoperative and follow-up period in both patients with or without atrioventricular septal defect (AVSD) (P = 0.045 in patients with AVSD and P = 0.008 in patients without AVSD). Decreasing trend of mean gradient (MG) in MS group was statistically significant (P = 0.005). In patients with MR, the mean pulmonary artery pressure (PAP) had improved postoperatively (P < 0.001). Although PAP in patients with MV stenosis was reduced, this reduction was not statistically significant (P = 0.17). In-hospital mortality was 7%. Multivariate analysis demonstrated that age (P < 0.001), weight (P < 0.001), and pulmonary stenosis (P = 0.03) are strong predictors for mortality. Based on the echocardiography report at the day of discharge from hospital, surgical results were optimal (up to moderate degree for MR group and up to mild degree for MS group) in

  13. Congenital sternoclavicular dermoid sinus.

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    Willaert, Annelore; Bruninx, Liesje; Hens, Greet; Hauben, Esther; Devriendt, Koen; Vander Poorten, Vincent

    2016-02-01

    We report a case series of 8 patients, presenting with a congenital sinus in the region of the sternoclavicular joint. This rare malformation has only been reported in the Japanese dermatological literature under the name of "congenital dermoid fistula of the anterior chest region". It has to be distinguished from other congenital anomalies and requires complete excision. PMID:26810293

  14. Evaluation of atrial, ventricular and atrioventricular septal defects by cine magnetic resonance imaging

    International Nuclear Information System (INIS)

    Cine magnetic resonance imaging (MRI) was performed on 20 patients (mean age: 5.3±4.4 years) with atrial, ventricular, or atrioventricular septal defects for evaluation of cardiac structure and blood flow. Prior to cine MRI, electrocardiographycally gated MRI using multislice scquisition was performed on all patients to localize optimal slice location. Cine-MRI was obtained with a 30 deg flip angle, 15 msec echo time, and 30 msec pulse repetition time, on a 256 x 256 or 128 x 128 acquisition matrix. Abnormalities of cardiac structure were well defined in all patients by gated cardiac imaging. In 18 of the 20 patients, cine-MRI was able to detect shunt flow, visualized as a low intensity signal in comparison with the surrounding blood flow. Cine-MRI can provide not only accurate anatomy of cardiac structures but functional assessment of the cardiac chamber, wall topology and flow relations. Cine-MRI will become an important noninvasive technique for assessment of anatomy and physiology in congenital heart disease. (author)

  15. Catheters, wires, tubes and drains on postoperative radiographs of pediatric cardiac patients: the whys and wherefores

    International Nuclear Information System (INIS)

    Surgical treatment of congenital heart disease has advanced dramatically since the first intracardiac repairs in the mid-20th century. Previously inoperable lesions have become the focus of routine surgery and patients are managed successfully in intensive care units around the world. As a result, increasing numbers of postoperative images are processed by departments of radiology in children's hospitals. It is important that the radiologist accurately documents and describes the catheters, wires, tubes and drains that are present on the chest radiograph. This article reviews the reasons for the placement and positioning of perioperative equipment in children who have surgical repair of atrial septal defect, ventricular septal defect or transposition of the great arteries. Also included are a brief synopsis of each cardiac anomaly, the surgical procedure for its correction, and an in-depth discussion of the postoperative chest radiograph including illustrations of catheters, wires, tubes and drains. (orig.)

  16. Fetal cardiac interventions: an update of therapeutic options

    OpenAIRE

    Shi-Min Yuan

    2014-01-01

    Objective: This article aims to present updated therapeutic options for fetal congenital heart diseases. Methods: Data source for the present study was based on comprehensive literature retrieval on fetal cardiac interventions in terms of indications, technical approaches and clinical outcomes. Results: About 5% of fetal congenital heart diseases are critical and timely intrauterine intervention may alleviate heart function. Candidates for fetal cardiac interventions are limited. The...

  17. Non-ischemic perfusion defects due to delayed arrival of contrast material on stress perfusion cardiac magnetic resonance imaging after coronary artery bypass graft surgery

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    Kim, Yeo Koon; Park, Eun Ah; Park, Sang Joon; Cheon, Gi Jeong; Lee, Whal; Chung, Jin Wook; Park, Jae Hyung [Seoul National University Hospital, Seoul (Korea, Republic of)

    2014-04-15

    Herein we report about the adenosine stress perfusion MR imaging findings of a 50-year-old man who exhibited two different perfusion defects resulting from two different mechanisms after a coronary artery bypass surgery. An invasive coronary angiography confirmed that one perfusion defect at the mid-anterior wall resulted from an ischemia due to graft stenosis. However, no stenosis was detected on the graft responsible for the mid-inferior wall showing the other perfusion defect. It was assumed that the perfusion defect at the mid-inferior wall resulted from delayed perfusion owing to the long pathway of the bypass graft. The semiquantitative analysis of corrected signal-time curves supported our speculation, demonstrating that the rest-to-stress ratio index of the maximal slope of the myocardial territory in question was similar to those of normal myocardium, whereas that of myocardium with the stenotic graft showed a typical ischemic pattern. A delayed perfusion during long graft pathway in a post-bypass graft patient can mimick a true perfusion defect on myocardial stress MR imaging. Radiologists should be aware of this knowledge to avoid misinterpretation of graft and myocardial status in post bypass surgery patients.

  18. Non-ischemic perfusion defects due to delayed arrival of contrast material on stress perfusion cardiac magnetic resonance imaging after coronary artery bypass graft surgery

    International Nuclear Information System (INIS)

    Herein we report about the adenosine stress perfusion MR imaging findings of a 50-year-old man who exhibited two different perfusion defects resulting from two different mechanisms after a coronary artery bypass surgery. An invasive coronary angiography confirmed that one perfusion defect at the mid-anterior wall resulted from an ischemia due to graft stenosis. However, no stenosis was detected on the graft responsible for the mid-inferior wall showing the other perfusion defect. It was assumed that the perfusion defect at the mid-inferior wall resulted from delayed perfusion owing to the long pathway of the bypass graft. The semiquantitative analysis of corrected signal-time curves supported our speculation, demonstrating that the rest-to-stress ratio index of the maximal slope of the myocardial territory in question was similar to those of normal myocardium, whereas that of myocardium with the stenotic graft showed a typical ischemic pattern. A delayed perfusion during long graft pathway in a post-bypass graft patient can mimick a true perfusion defect on myocardial stress MR imaging. Radiologists should be aware of this knowledge to avoid misinterpretation of graft and myocardial status in post bypass surgery patients.

  19. 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...

  20. Eisenmenger syndrome in a patient with ventricular septal defect: a case report

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    Hari Babu Ramineni

    2015-01-01

    Full Text Available Eisenmenger Syndrome (ES represents Pulmonary Arterial Hypertension (PAH associated with Congenital Heart Defects (CHD. Although patients survive until their third or fourth decades of life, the symptoms include dyspnea, cyanosis, fatigue, dizziness, and syncope. In addition, cardiac arrhythmias, a late complication are causing sudden death in patients with ES. Treatment options have been limited; however, recent successes have been achieved with the use of therapies targeted against the pathophysiological pathways that underlie PAH. The dual endothelin receptor antagonist and prostacyclins demonstrated to improve hemodynamics of the patients. This is the case of a 16 year old young female with ventricular septal defect that was admitted with increasing shortness of breath and cyanosis with clubbing which are clinical features of Eisenmenger syndrome. She was medicated with Furosemide, Sildenafil which improved her functional status. [Int J Res Med Sci 2015; 3(1.000: 376-378