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Sample records for single ventricle congenital

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

    OpenAIRE

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

    2009-01-01

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

  2. Structural cerebral abnormalities and neurodevelopmental status in single ventricle congenital heart disease before Fontan procedure.

    Science.gov (United States)

    Knirsch, Walter; Mayer, Kristina Nadine; Scheer, Ianina; Tuura, Ruth; Schranz, Dietmar; Hahn, Andreas; Wetterling, Kristina; Beck, Ingrid; Latal, Beatrice; Reich, Bettina

    2017-04-01

    Neonates with single ventricle congenital heart disease are at risk for structural cerebral abnormalities. Little is known about the further evolution of cerebral abnormalities until Fontan procedure. Between August 2012 and July 2015, we conducted a prospective cross-sectional two centre study using cerebral magnetic resonance imaging (MRI) and neuro-developmental outcome assessed by the Bayley-III. Forty-seven children (31 male) were evaluated at a mean age of 25.9 ± 3.4 months with hypoplastic left heart syndrome (25) or other single ventricle (22). Cerebral MRI was abnormal in 17 patients (36.2%) including liquor space enlargements (10), small grey (9) and minimal white (5) matter injuries. Eight of 17 individuals had combined lesions. Median (range) cognitive composite score (CCS) (100, 65-120) and motor composite score (MCS) (97, 55-124) were comparable to the reference data, while language composite score (LCS) (97, 68-124) was significantly lower ( P  = 0.040). Liquor space enlargement was associated with poorer performance on all Bayley-III subscores (CCS: P  = 0.02; LCS: P  = 0.002; MCS: P  = 0.013). The number of re-operations [odds ratio (OR) 2.2, 95% confidence interval (CI) 1.1-4.3] ( P  = 0.03) and re-interventions (OR 2.1, 95% CI 1.1-3.8) ( P  = 0.03) was associated with a higher rate of overall MRI abnormalities. Cerebral MRI abnormalities occur in more than one third of children with single ventricle, while the neuro-developmental status is less severely affected before Fontan procedure. Liquor space enlargement is the predominant MRI finding associated with poorer neuro-developmental status, warranting further studies to determine aetiology and further evolution until school-age. © The Author 2016. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  3. Single ventricle cardiac defect

    International Nuclear Information System (INIS)

    Eren, B.; Turkmen, N.; Fedakar, R.; Cetin, V.

    2010-01-01

    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)

  4. Effect of race on the timing of the Glenn and Fontan procedures for single-ventricle congenital heart disease.

    Science.gov (United States)

    Ingaramo, Oscar A; Khemani, Robinder G; Markovitz, Barry P; Epstein, David

    2012-03-01

    Disparities in health care have been documented between different racial groups in the United States. We hypothesize that there will be racial variance in the timing of the Glenn and Fontan procedures for children with single-ventricle physiology. We performed a retrospective review of a national pediatric intensive care unit database (Virtual PICU Performance System, LLC). Children with hypoplastic left heart syndrome, tricuspid atresia, and common ventricle, admitted from January 2006 to July 2008, were included. Data included race, weight, age, medical length of stay, Paediatric Index of Mortality 2 score, and survival. None. There were 423 patients from 29 hospitals. The study population was 7.6% black, 13.0% Hispanic, 59.8% white, 9.2% "other," and 11.6% had missing racial/ethnic information. Diagnoses included 255 patients with hypoplastic left heart syndrome, 91 with tricuspid atresia, and 77 with common ventricle. The median age for the Glenn procedure (n = 205) was 5.5 months (interquartile range, 4.6-7.0 months) and 39.7 months (interquartile range, 32.4-50.6 months) for the Fontan procedure (n = 218). There was no difference between the median age at the time of the Glenn or Fontan procedures between the different racial/ethnic groups (p = .65 and p = .16, respectively). The medical length of intensive care unit stay for patients receiving the Glenn and Fontan procedures was 3.7 days (interquartile range, 1.9-6.1 days) and 3.7 days (interquartile range, 1.9-6.8 days), respectively. There were no differences in medical length of intensive care unit stay for the Glenn procedure between the different racial/ethnic groups (p = .21). Hispanic patients had a longer medical length of intensive care unit stay (6.3 days; interquartile range, 3.1-9.9 days) than white patients (2.9 days; interquartile range, 1.8-5.3 days) for the Fontan procedure (p = .008). The timing of single-ventricle palliative procedures was not affected by race/ethnicity.

  5. Antenatal and postnatal sonographic imaging findings of a single ventricle presenting as double outlet right ventricle with rudimentary left ventricle and single atrium

    Directory of Open Access Journals (Sweden)

    Donboklang Lynser

    2015-11-01

    Full Text Available Congenital heart disease is a major cause of morbidity and mortality. Single ventricle is a rare finding and usually of left ventricular morphology. We present here interesting antenatal and postnatal echocardiographic findings of a baby having a rare single ventricle of right ventricular morphology with double outlet. Antenatally we saw a large ventricular septal defect indistinguishable from a single ventricle with left to right ventricular ratio of 1:1. Postnatally we saw a single ventricle having the outlets for both the main pulmonary artery and aortic root. The left ventricle is collapse with a rudimentary morphology possibly due to changes in hemodynamics after birth and absent of outlet from it.

  6. Practice Variation in Single-Ventricle Patients Undergoing Elective Cardiac Catheterization: A Report from the Congenital Cardiac Catheterization Project on Outcomes (C3PO).

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    Goldstein, Bryan H; Holzer, Ralf J; Trucco, Sara M; Porras, Diego; Murphy, Joshua; Foerster, Susan R; El-Said, Howaida G; Beekman, Robert H; Bergersen, Lisa

    2016-01-01

    The objective of this study was to investigate variation in practice surrounding elective cardiac catheterization in patients with single-ventricle (SV) congenital heart disease. Patient and procedural characteristics and outcomes during SV catheterization were collected prospectively from eight centers using a web-based registry (Congenital Cardiac Catheterization Project on Outcomes). We attempted to identify a population of elective procedures by limiting the cohort in case type and timing. Cases were then stratified by stage of SV palliation (pre-bidirectional cavopulmonary anastomosis [pre-BCPA], pre-Fontan and post-Fontan) and limited by age. Subcohort analysis was performed by mode of airway management (assisted vs. spontaneous ventilation). Institutional variation was assessed. Between 2/2007 and 6/2010, 1459 (10.1%) of 14 467 cases in the registry met the inclusion and exclusion criteria, including 326 pre-BCPA, 571 pre-Fontan and 562 post-Fontan procedures. Median patient age was 0.4 (interquartile range 0.3, 0.5), 2.6 (1.0, 3.4) and 9.6 (5.2, 15.4) years and weight was 5.6 (4.8, 6.4), 12.2 (10.5, 14), and 26.3 (16.6, 51.8) kg in the pre-BCPA, pre-Fontan and post-Fontan cohorts, respectively. Cases were more commonly diagnostic in the pre-BCPA cohort (57%) whereas they were more commonly interventional in the pre-Fontan (69%) and post-Fontan (77%) cohorts. At least one adverse event (AE) occurred in 210 cases (14.4%) overall, including 20% of pre-BCPA, 11% of pre-Fontan and 14% of post-Fontan catheterizations. Mode of airway management was associated with statistically significant, but clinically small differences in hemodynamic measures in the pre- and post-Fontan cohorts, but not in the pre-BCPA group. Considerable practice variation exists across centers with variability in airway management, AE rate, case type, interventions performed and fluoroscopy time, in all SV cohorts. Elective catheterization in SV patients, frequently performed with

  7. Somatic growth in 94 single ventricle children -- comparing systemic right and left ventricle patients

    DEFF Research Database (Denmark)

    Hessel, Trine witzner; Greisen, Gorm; Idorn, Lars

    2013-01-01

    We sought to compare and assess growth in single ventricle children with a systemic right or left ventricle in five time periods: at birth, before neonatal surgery, before the Glenn anastomosis and finally before and after the Fontan operation to 11 years of age.......We sought to compare and assess growth in single ventricle children with a systemic right or left ventricle in five time periods: at birth, before neonatal surgery, before the Glenn anastomosis and finally before and after the Fontan operation to 11 years of age....

  8. Characterizing the angiogenic activity of patients with single ventricle physiology and aortopulmonary collateral vessels.

    Science.gov (United States)

    Sandeep, Nefthi; Uchida, Yutaka; Ratnayaka, Kanishka; McCarter, Robert; Hanumanthaiah, Sridhar; Bangoura, Aminata; Zhao, Zhen; Oliver-Danna, Jacqueline; Leatherbury, Linda; Kanter, Joshua; Mukouyama, Yoh-Suke

    2016-04-01

    Patients with single ventricle congenital heart disease often form aortopulmonary collateral vessels via an unclear mechanism. To gain insights into the pathogenesis of aortopulmonary collateral vessels, we correlated angiogenic factor levels with in vitro activity and angiographic aortopulmonary collateral assessment and examined whether patients with single ventricle physiology have increased angiogenic factors that can stimulate endothelial cell sprouting in vitro. In patients with single ventricle physiology (n = 27) and biventricular acyanotic control patients (n = 21), hypoxia-inducible angiogenic factor levels were measured in femoral venous and arterial plasma at cardiac catheterization. To assess plasma angiogenic activity, we used a 3-dimensional in vitro cell sprouting assay that recapitulates angiogenic sprouting. Aortopulmonary collateral angiograms were graded using a 4-point scale. Compared with controls, patients with single ventricle physiology had increased vascular endothelial growth factor (artery: 58.7 ± 1.2 pg/mL vs 35.3 ± 1.1 pg/mL, P collateral severity. We are the first to correlate plasma angiogenic factor levels with angiography and in vitro angiogenic activity in patients with single ventricle disease with aortopulmonary collaterals. Patients with single ventricle disease have increased stromal-derived factor 1-alpha and soluble fms-like tyrosine kinase-1, and their roles in aortopulmonary collateral formation require further investigation. Plasma factors and angiogenic activity correlate poorly with aortopulmonary collateral severity in patients with single ventricles, suggesting complex mechanisms of angiogenesis. Published by Elsevier Inc.

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

    DEFF Research Database (Denmark)

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

    2013-01-01

    BACKGROUND AND RESEARCH OBJECTIVE:: Approximately 3% of children with congenital heart disease born in Denmark have single ventricle physiology (SVP). In previous decades, these children did not survive into adulthood. However, because of new surgical techniques and improved medical care, they now...

  10. Patient-Specific Modeling of Interventricular Hemodynamics in Single Ventricle Physiology

    Science.gov (United States)

    Vedula, Vijay; Feinstein, Jeffrey; Marsden, Alison

    2016-11-01

    Single ventricle (SV) congenital heart defects, in which babies are born with only functional ventricle, lead to significant morbidity and mortality with over 30% of patients developing heart failure prior to adulthood. Newborns with SV physiology typically undergo three palliative surgeries, in which the SV becomes the systemic pumping chamber. Depending on which ventricle performs the systemic function, patients are classified as having either a single left ventricle (SLV) or a single right ventricle (SRV), with SRV patients at higher risk of failure. As the native right ventricles are not designed to meet systemic demands, they undergo remodeling leading to abnormal hemodynamics. The hemodynamic characteristics of SLVs compared with SRVs is not well established. We present a validated computational framework for performing patient-specific modeling of ventricular flows, and apply it across 6 SV patients (3SLV + 3SRV), comparing hemodynamic conditions between the two subgroups. Simulations are performed with a stabilized finite element method coupled with an immersed boundary method for modeling heart valves. We discuss identification of hemodynamic biomarkers of ventricular remodeling for early risk assessment of failure. This research is supported in part by the Stanford Child Health Research Institute and the Stanford NIH-NCATS-CTSA through Grant UL1 TR001085 and due to U.S. National Institute of Health through NIH NHLBI R01 Grants 5R01HL129727-02 and 5R01HL121754-03.

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

    OpenAIRE

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

    2016-01-01

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

  12. Multiscale modeling and surgical planning for single ventricle heart patients

    Science.gov (United States)

    Marsden, Alison

    2011-11-01

    Single ventricle heart patients are among the most challenging for pediatric cardiologists to treat, and typically undergo a palliative course of three open-heart surgeries starting immediately after birth. We will present recent tools for modeling blood flow in single ventricle heart patients using a multiscale approach that couples a 3D Navier-Stokes domain to a 0D closed loop lumped parameter network comprised of circuit elements. This coupling allows us to capture the effect of changes in local geometry, such as shunt sizes, on global circulatory dynamics, such as cardiac output. A semi-implicit numerical method is formulated to solve the coupled system in which flow and pressure information is passed between the two domains at the inlets and outlets of the model. A finite element method with outflow stabilization is applied in the 3D Navier-Stokes domain, and the LPN system of ordinary differential equations is solved numerically using a Runge-Kutta method. These tools are coupled via automated scripts to a derivative-free optimization method. Optimization is used to systematically explore surgical designs using clinically relevant cost functions for two stages of single ventricle repair. First, we will present results from optimization of the first stage Blalock Taussig Shunt. Second, we will present results from optimization of a new Y-graft design for the third stage of single ventricle repair called the Fontan surgery. The Y-graft is shown, in simulations, to successfully improve hepatic flow distribution, a known clinical problem. Preliminary clinical experience with the Y-graft will be discussed.

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

    Science.gov (United States)

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

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

  14. Prenatal diagnosis and risk factors for preoperative death in neonates with single right ventricle and systemic outflow obstruction: screening data from the Pediatric Heart Network Single Ventricle Reconstruction Trial(∗).

    Science.gov (United States)

    Atz, Andrew M; Travison, Thomas G; Williams, Ismee A; Pearson, Gail D; Laussen, Peter C; Mahle, William T; Cook, Amanda L; Kirsh, Joel A; Sklansky, Mark; Khaikin, Svetlana; Goldberg, Caren; Frommelt, Michele; Krawczeski, Catherine; Puchalski, Michael D; Jacobs, Jeffrey P; Baffa, Jeanne M; Rychik, Jack; Ohye, Richard G

    2010-12-01

    The purpose of this analysis was to assess preoperative risk factors before the first-stage Norwood procedure in infants with hypoplastic left heart syndrome and related single-ventricle lesions and to evaluate practice patterns in prenatal diagnosis, as well as the role of prenatal diagnosis in outcome. Data from all live births with morphologic single right ventricle and systemic outflow obstruction screened for the Pediatric Heart Network's Single Ventricle Reconstruction Trial were used to investigate prenatal diagnosis and preoperative risk factors. Demographics, gestational age, prenatal diagnosis status, presence of major extracardiac congenital abnormalities, and preoperative mortality rates were recorded. Of 906 infants, 677 (75%) had prenatal diagnosis, 15% were preterm (<37 weeks' gestation), and 16% were low birth weight (<2500 g). Rates of prenatal diagnosis varied by study site (59% to 85%, P < .0001). Major extracardiac congenital abnormalities were less prevalent in those born after prenatal diagnosis (6% vs 10%, P = .03). There were 26 (3%) deaths before Norwood palliation; preoperative mortality did not differ by prenatal diagnosis status (P = .49). In multiple logistic regression models, preterm birth (P = .02), major extracardiac congenital abnormalities (P < .0001), and obstructed pulmonary venous return (P = .02) were independently associated with preoperative mortality. Prenatal diagnosis occurred in 75%. Preoperative death was independently associated with preterm birth, obstructed pulmonary venous return, and major extracardiac congenital abnormalities. Adjusted for gestational age and the presence of obstructed pulmonary venous return, the estimated odds of preoperative mortality were 10 times greater for subjects with a major extracardiac congenital abnormality. Copyright © 2010 The American Association for Thoracic Surgery. All rights reserved.

  15. Ca2+-regulatory proteins in cardiomyocytes from the right ventricle in children with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Wu Yihe

    2012-04-01

    Full Text Available Abstract Background Hypoxia and hypertrophy are the most frequent pathophysiological consequence of congenital heart disease (CHD which can induce the alteration of Ca2+-regulatory proteins and inhibit cardiac contractility. Few studies have been performed to examine Ca2+-regulatory proteins in human cardiomyocytes from the hypertrophic right ventricle with or without hypoxia. Methods Right ventricle tissues were collected from children with tetralogy of Fallot [n = 25, hypoxia and hypertrophy group (HH group], pulmonary stenosis [n = 25, hypertrophy group (H group], or small isolated ventricular septal defect [n = 25, control group (C group] during open-heart surgery. Paraffin sections of tissues were stained with 3,3′-dioctadecyloxacarbocyanine perchlorate to measure cardiomyocyte size. Expression levels of Ca2+-regulatory proteins [sarcoplasmic reticulum Ca2+-ATPase (SERCA2a, ryanodine receptor (RyR2, sodiumcalcium exchanger (NCX, sarcolipin (SLN and phospholamban (PLN] were analysed by means of real-time PCR, western blot, or immunofluorescence. Additionally, phosphorylation level of RyR and PLN and activity of protein phosphatase (PP1 were evaluated using western blot. Results Mild cardiomyocyte hypertrophy of the right ventricle in H and HH groups was confirmed by comparing cardiomyocyte size. A significant reduction of SERCA2a in mRNA (P16-phosphorylated PLN was down-regulated (PP Conclusions The decreased SERCA2a mRNA may be a biomarker of the pathological process in the early stage of cyanotic CHD with the hypertrophic right ventricle. A combination of hypoxia and hypertrophy can induce the adverse effect of PLN-Ser16 dephosphorylation. Increased PP1 could result in the decreased PLN-Ser16 and inhibition of PP1 is a potential therapeutic target for heart dysfunction in pediatrics.

  16. Factors affecting growth in infants with single ventricle physiology: a report from the Pediatric Heart Network Infant Single Ventricle Trial.

    Science.gov (United States)

    Williams, Richard V; Zak, Victor; Ravishankar, Chitra; Altmann, Karen; Anderson, Jeffrey; Atz, Andrew M; Dunbar-Masterson, Carolyn; Ghanayem, Nancy; Lambert, Linda; Lurito, Karen; Medoff-Cooper, Barbara; Margossian, Renee; Pemberton, Victoria L; Russell, Jennifer; Stylianou, Mario; Hsu, Daphne

    2011-12-01

    To describe growth patterns in infants with single ventricle physiology and determine factors influencing growth. Data from 230 subjects enrolled in the Pediatric Heart Network Infant Single Ventricle Enalapril Trial were used to assess factors influencing change in weight-for-age z-score (z) from study enrollment (0.7 ± 0.4 months) to pre-superior cavopulmonary connection (SCPC; 5.1 ± 1.8 months, period 1) and pre-SCPC to final study visit (14.1 ± 0.9 months, period 2). Predictor variables included patient characteristics, feeding regimen, clinical center, and medical factors during neonatal (period 1) and SCPC hospitalizations (period 2). Univariate regression analysis was performed, followed by backward stepwise regression and bootstrapping reliability to inform a final multivariable model. Weights were available for 197 of 230 subjects for period 1 and 173 of 197 subjects for period 2. For period 1, greater gestational age, younger age at study enrollment, tube feeding at neonatal hospitalization discharge, and clinical center were associated with a greater negative z (poorer growth) in multivariable modeling (adjusted R(2) = 0.39, P SCPC and greater daily caloric intake were associated with greater positive z (better growth; R(2) = 0.10, P = .002). Aggressive nutritional support and earlier SCPC are modifiable factors associated with a favorable change in weight-for-age z-score. Copyright © 2011 Mosby, Inc. All rights reserved.

  17. Factors Impacting Growth in Infants with Single Ventricle Physiology: A Report from Pediatric Heart Network Infant Single Ventricle Trial

    Science.gov (United States)

    Williams, Richard V.; Zak, Victor; Ravishankar, Chitra; Altmann, Karen; Anderson, Jeffrey; Atz, Andrew M.; Dunbar-Masterson, Carolyn; Ghanayem, Nancy; Lambert, Linda; Lurito, Karen; Medoff-Cooper, Barbara; Margossian, Renee; Pemberton, Victoria L.; Russell, Jennifer; Stylianou, Mario; Hsu, Daphne

    2011-01-01

    Objectives To describe growth patterns in infants with single ventricle physiology and determine factors influencing growth. Study design Data from 230 subjects enrolled in the Pediatric Heart Network Infant Single Ventricle Enalapril Trial were used to assess factors influencing change in weight-for-age z-score (Δz) from study enrollment (0.7 ± 0.4 months) to pre-superior cavopulmonary connection (SCPC) (5.1 ± 1.8 months, period 1), and pre-SCPC to final study visit (14.1 ± 0.9 months, period 2). Predictor variables included patient characteristics, feeding regimen, clinical center, and medical factors during neonatal (period 1) and SCPC hospitalizations (period 2). Univariate regression analysis was performed, followed by backward stepwise regression and bootstrapping reliability to inform a final multivariable model. Results Weights were available for 197/230 subjects for period 1 and 173/197 for period 2. For period 1, greater gestational age, younger age at study enrollment, tube feeding at neonatal discharge, and clinical center were associated with a greater negative Δz (poorer growth) in multivariable modeling (adjusted R2 = 0.39, p SCPC and greater daily caloric intake were associated with greater positive Δz (better growth) (R2 = 0.10, p = 0.002). Conclusions Aggressive nutritional support and earlier SCPC are modifiable factors associated with a favorable change in weight-for-age z-score. PMID:21784436

  18. Double Outlet Right Ventricle

    Science.gov (United States)

    ... Right Ventricle Menu Topics Topics FAQs Double Outlet Right Ventricle Double outlet right ventricle (DORV) is a rare form of congenital heart disease. Article Info En español Double outlet right ventricle (DORV) is a rare form of congenital ...

  19. Utility of dual source CT with ECG-triggered high-pitch spiral acquisition (Flash Spiral Cardio mode) to evaluate morphological features of ventricles in children with complex congenital heart defects.

    Science.gov (United States)

    Nakagawa, Motoo; Ozawa, Yoshiyuki; Nomura, Norikazu; Inukai, Sachiko; Tsubokura, Satoshi; Sakurai, Keita; Shimohira, Masashi; Ogawa, Masaki; Shibamoto, Yuta

    2016-04-01

    We evaluated the ability of dual source CT (DSCT) with ECG-triggered high-pitch spiral acquisition (Flash Spiral Cardio mode) to depict the morphological features of ventricles in pediatric patients with congenital heart defects (CHD). Between July 2013 and April 2015, 78 pediatric patients with CHD (median age 4 months) were examined using DSCT with the Flash Spiral Cardio mode. The types of ventricular abnormalities were ventricular septal defect (VSD) in 42 (the malaligned type in 11, perimembranous type in 23, supracristal type in 2, atrioventricular type in 2, and muscular type in 4), single ventricle (SV) in 11, and congenital corrected transposition of the great arteries (ccTGA) in 4. We evaluated the accuracy of the diagnosis of the VSD type. In cases of SV and ccTGA, we assessed the detectability of the anatomical features of both ventricles for a diagnosis of ventricular situs. DSCT confirmed the diagnoses for all VSDs. The type of defect was precisely diagnosed for all patients. The anatomical features of both ventricles were also depicted and ventricular situs of SV and ccTGA was correctly diagnosed. The results suggest that DSCT has the ability to clearly depict the configuration of ventricles.

  20. Congenital malformation of inner ear, single cavity

    International Nuclear Information System (INIS)

    Torres Pazmino, Julio Cesar; Marrugo Pardo, Gilberto Eduardo

    2010-01-01

    Congenital malformations of the inner ear are rare conditions, but their detection requires high diagnostic accuracy. In this report we describe the case of a patient with single or common cavity, discuss the corresponding radiological images, describe the treatment of this patient with a cochlear implant, and review the classification and differential diagnosis of the other anomalies of the inner ear.

  1. Systemic Right Ventricle in Adults With Congenital Heart Disease: Anatomic and Phenotypic Spectrum and Current Approach to Management.

    Science.gov (United States)

    Brida, Margarita; Diller, Gerhard-Paul; Gatzoulis, Michael A

    2018-01-30

    The systemic right ventricle (SRV) is commonly encountered in congenital heart disease representing a distinctly different model in terms of its anatomic spectrum, adaptation, clinical phenotype, and variable, but overall guarded prognosis. The most common clinical scenarios where an SRV is encountered are complete transposition of the great arteries with previous atrial switch repair, congenitally corrected transposition of the great arteries, double inlet right ventricle mostly with previous Fontan palliation, and hypoplastic left heart syndrome palliated with the Norwood-Fontan protocol. The reasons for the guarded prognosis of the SRV in comparison with the systemic left ventricle are multifactorial, including distinct fibromuscular architecture, shape and function, coronary artery supply mismatch, intrinsic abnormalities of the tricuspid valve, intrinsic or acquired conduction abnormalities, and varied SRV adaptation to pressure or volume overload. Management of the SRV remains an ongoing challenge because SRV dysfunction has implications on short- and long-term outcomes for all patients irrespective of underlying cardiac morphology. SRV dysfunction can be subclinical, underscoring the need for tertiary follow-up and timely management of target hemodynamic lesions. Catheter interventions and surgery have an established role in selected patients. Cardiac resynchronization therapy is increasingly used, whereas pharmacological therapy is largely empirical. Mechanical assist device and heart transplantation remain options in end-stage heart failure when other management strategies have been exhausted. The present report focuses on the SRV with its pathological subtypes, pathophysiology, clinical features, current management strategies, and long-term sequelae. Although our article touches on issues applicable to neonates and children, its main focus is on adults with SRV. © 2018 American Heart Association, Inc.

  2. Jarvik 2000 axial-flow ventricular assist device placement to a systemic morphologic right ventricle in congenitally corrected transposition of the great arteries.

    Science.gov (United States)

    Tanoue, Yoshihisa; Jinzai, Yuki; Tominaga, Ryuji

    2016-03-01

    Few descriptions of the implantation and management of an implantable ventricular assist device in patients with complex congenital heart disease exist in the literature. The Jarvik 2000 axial-flow ventricular assist device (Jarvik Heart, Inc., NYC, NY, USA) can be placed in either the left or the right ventricle. We present the case of a 60-year-old man with congenitally corrected transposition of the great arteries who underwent successful placement of a Jarvik 2000 axial-flow ventricular assist device in a systemic morphologic right ventricle.

  3. Single-Ventricle Palliation in a 4-Year-Old With Ehlers-Danlos Syndrome.

    Science.gov (United States)

    DeBoard, Zach M; Eckhauser, Aaron W; Griffiths, Eric

    2018-01-01

    We report the case of a 4-year-old boy with Ehlers-Danlos syndrome undergoing single-ventricle palliation for an unbalanced atrioventricular canal defect. No reports of single-ventricle palliation in the setting of connective tissue disorders exist in the current literature. Unique findings on the patient's preoperative imaging included a disproportionately large neoaortic root and a regurgitant atrioventricular valve, which may foretell the need for future intervention. Copyright © 2018 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  4. Patient-reported outcomes in adult survivors with single-ventricle physiology

    DEFF Research Database (Denmark)

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

    2011-01-01

    Objectives: Data on patient-reported outcomes (PROs) in patients with single-ventricle physiology (SVP) are scarce. We sought (1) to describe the perceived health status, quality of life, symptoms of anxiety and depression, and sense of coherence in adult survivors with SVP, (2) to compare PROs...

  5. Fontan Completion for Younger than 3 Years of Age: Outcome in Patients with Functional Single Ventricle.

    Science.gov (United States)

    Bezuska, Laurynas; Lebetkevicius, Virgilijus; Lankutis, Kestutis; Sudikiene, Rita; Sirvydis, Vytautas Jonas; Tarutis, Virgilijus

    2015-12-01

    Most single ventricle patients undergo Fontan procedure earlier in current era. However, optimal timing of Fontan completion after an intermediate staging surgery is controversial. We present children who had Fontan surgeries younger than 3 years of age comparing the data with older patients. Between 2000 and 2013, 45 patients with functional single ventricle underwent extracardiac total cavopulmonary connection (TCPC) using GORE-TEX(®) conduit at a single institution. Children were divided into group A (age GORE-TEX(®) conduit size were similar in both groups. The time of chest drain stay was significantly lower in group A (median 12 days, IQR 7-22) than in group B (22 days, IQR 16-32.5) (p = 0.014). Extracardiac TCPC can be performed earlier with good intermediate results. Earlier Fontan procedure might be advantageous for reducing chest drains stay.

  6. Renin-angiotensin-aldosterone genotype influences ventricular remodeling in infants with single ventricle.

    Science.gov (United States)

    Mital, Seema; Chung, Wendy K; Colan, Steven D; Sleeper, Lynn A; Manlhiot, Cedric; Arrington, Cammon B; Cnota, James F; Graham, Eric M; Mitchell, Michael E; Goldmuntz, Elizabeth; Li, Jennifer S; Levine, Jami C; Lee, Teresa M; Margossian, Renee; Hsu, Daphne T

    2011-05-31

    We investigated the effect of polymorphisms in the renin-angiotensin-aldosterone system (RAAS) genes on ventricular remodeling, growth, renal function, and response to enalapril in infants with single ventricle. Single ventricle infants enrolled in a randomized trial of enalapril were genotyped for polymorphisms in 5 genes: angiotensinogen, angiotensin-converting enzyme, angiotensin II type 1 receptor, aldosterone synthase, and chymase. Alleles associated with renin-angiotensin-aldosterone system upregulation were classified as risk alleles. Ventricular mass, volume, somatic growth, renal function using estimated glomerular filtration rate, and response to enalapril were compared between patients with ≥2 homozygous risk genotypes (high risk), and those with SCPC) and at age 14 months. Of 230 trial subjects, 154 were genotyped: Thirty-eight were high risk, and 116 were low risk. Ventricular mass and volume were elevated in both groups pre-SCPC. Ventricular mass and volume decreased and estimated glomerular filtration rate increased after SCPC in the low-risk (PSCPC surgery, less improvement in renal function, and impaired somatic growth, the latter especially in patients receiving enalapril. Renin-angiotensin-aldosterone system genotype may identify a high-risk subgroup of single ventricle patients who fail to fully benefit from volume-unloading surgery. Follow-up is warranted to assess long-term impact. http://www.clinicaltrials.gov. Unique identifier: NCT00113087.

  7. Ventricular Assist Device in Single-Ventricle Heart Disease and a Superior Cavopulmonary Anastomosis.

    Science.gov (United States)

    Niebler, Robert A; Shah, Tejas K; Mitchell, Michael E; Woods, Ronald K; Zangwill, Steven D; Tweddell, James S; Berger, Stuart; Ghanayem, Nancy S

    2016-02-01

    Our objective is to describe the use of a ventricular assist device (VAD) in single-ventricle patients with circulatory failure following superior cavopulmonary anastomosis (SCPA). We performed a retrospective chart review of all single-ventricle patients supported with a VAD following SCPA. Implantation techniques, physiologic parameters while supported, medical and surgical interventions postimplant, and outcomes were reviewed. Four patients were supported with an EXCOR Pediatric (Berlin Heart Inc., The Woodlands, TX, USA) following SCPA for a median duration of 10.5 days (range 9-312 days). Selective excision of trabeculae and chords facilitated apical cannulation in all patients without inflow obstruction. There were two pump exchanges in the one patient supported for 312 days. Two patients were evaluated by cardiac catheterization while supported. Three of four patients were successfully bridged to transplantation. One patient died while supported. All patients had significant bleeding at the time of transplantation, and one required posttransplant extracorporeal membrane oxygenation with subsequent full recovery. VAD support can provide a successful bridge to transplantation in patients with single-ventricle circulation following SCPA. A thorough understanding of the challenges encountered during this support is necessary for successful outcomes. Copyright © 2015 International Center for Artificial Organs and Transplantation and Wiley Periodicals, Inc.

  8. Patients with single ventricle physiology undergoing noncardiac surgery are at high risk for adverse events.

    Science.gov (United States)

    Brown, Morgan L; DiNardo, James A; Odegard, Kirsten C

    2015-08-01

    Patients with single ventricle physiology are at increased anesthetic risk when undergoing noncardiac surgery. To review the outcomes of anesthetics for patients with single ventricle physiology undergoing noncardiac surgery. This study is a retrospective chart review of all patients who underwent a palliative procedure for single ventricle physiology between January 1, 2007 and January 31, 2014. Anesthetic and surgical records were reviewed for noncardiac operations that required sedation or general anesthesia. Any noncardiac operation occurring prior to completion of a bidirectional Glenn procedure was included. Diagnostic procedures, including cardiac catheterization, insertion of permanent pacemaker, and procedures performed in the ICU, were excluded. During the review period, 417 patients with single ventricle physiology had initial palliation. Of these, 70 patients (16.7%) underwent 102 anesthetics for 121 noncardiac procedures. The noncardiac procedures included line insertion (n = 23); minor surgical procedures such as percutaneous endoscopic gastrostomy or airway surgery (n = 38); or major surgical procedures including intra-abdominal and thoracic operations (n = 41). These interventions occurred on median day 60 of life (1-233 days). The procedures occurred most commonly in the operating room (n = 79, 77.5%). Patients' median weight was 3.4 kg (2.4-15 kg) at time of noncardiac intervention. In 102 anesthetics, 26 patients had an endotracheal tube or tracheostomy in situ, 57 patients underwent endotracheal intubation, and 19 patients had a natural or mask airway. An intravenous induction was performed in 77 anesthetics, an inhalational induction in 17, and a combination technique in 8. The median total anesthetic time was 126 min (14-594 min). In 22 anesthetics (21.6%), patients were on inotropic support upon arrival; an additional 24 patients required inotropic support (23.5%), of which dopamine was the most common medication. There were 10

  9. Building a comprehensive team for the longitudinal care of single ventricle heart defects: Building blocks and initial results.

    Science.gov (United States)

    Texter, Karen; Davis, Jo Ann M; Phelps, Christina; Cheatham, Sharon; Cheatham, John; Galantowicz, Mark; Feltes, Timothy F

    2017-07-01

    With increasing survival of children with HLHS and other single ventricle lesions, the complexity of medical care for these patients is substantial. Establishing and adhering to best practice models may improve outcome, but requires careful coordination and monitoring. In 2013 our Heart Center began a process to build a comprehensive Single Ventricle Team designed to target these difficult issues. Comprehensive Single Ventricle Team in 2014 was begun, to standardize care for children with single ventricle heart defects from diagnosis to adulthood within our institution. The team is a multidisciplinary group of providers committed to improving outcomes and quality of life for children with single ventricle heart defects, all functioning within the medical home of our heart center. Standards of care were developed and implemented in five target areas to standardize medical management and patient and family support. Under the team 100 patients have been cared for. Since 2014 a decrease in interstage mortality for HLHS were seen. Using a team approach and the tools of Quality Improvement they have been successful in reaching high protocol compliance for each of these areas. This article describes the process of building a successful Single Ventricle team, our initial results, and lessons learned. Additional study is ongoing to demonstrate the effects of these interventions on patient outcomes. © 2017 Wiley Periodicals, Inc.

  10. Exploring kinetic energy as a new marker of cardiac function in the single ventricle circulation.

    Science.gov (United States)

    Wong, James; Chabiniok, Radomir; Tibby, Shane M; Pushparajah, Kuberan; Sammut, Eva; Celermajer, David S; Giese, Daniel; Hussain, Tarique; Greil, Gerald F; Schaeffter, Tobias; Razavi, Reza

    2018-01-25

    Ventricular volumetric ejection fraction (VV EF) is often normal in patients with single ventricle circulations despite them experiencing symptoms related to circulatory failure. We sought to determine if kinetic energy (KE) could be a better marker of ventricular performance. KE was prospectively quantified using 4D flow MRI in 41 patients with a single ventricle circulation (aged 0.5 - 28 years) and compared to 43 healthy volunteers (aged 1.5 - 62 years) and 14 patients with left ventricular (LV) dysfunction (aged 28 - 79 years). Intraventricular end-diastolic blood was tracked through systole and divided into ejected and residual blood components. Two ejection fraction (EF) metrics were devised based on the KE of the ejected component over the total of both the ejected and residual components using: (1) instantaneous peak KE to assess KE EF or; (2) summating individual peak particle energy (PE) to assess PE EF. KE EF and PE EF had a smaller range than VV EF in healthy subjects (97.9 {plus minus} 0.8% vs. 97.3 {plus minus} 0.8% vs. 60.1 {plus minus} 5.2%). LV dysfunction caused a fall in KE EF (p =0.01) and PE EF (p =0.0001). VV EF in healthy LVs and single ventricle hearts was equivalent however KE EF and PE EF were lower (p <0.001) with a wider range indicating a spectrum of severity. Those reporting the greatest symptomatic impairment (NYHA II) had lower PE EF than asymptomatic subjects (p =0.0067). KE metrics are markers of healthy cardiac function. PE EF may be useful in grading dysfunction.

  11. Growth Asymmetry, Head Circumference, and Neurodevelopmental Outcomes in Infants with Single Ventricles.

    Science.gov (United States)

    Miller, Thomas A; Zak, Victor; Shrader, Peter; Ravishankar, Chitra; Pemberton, Victoria L; Newburger, Jane W; Shillingford, Amanda J; Dagincourt, Nicholas; Cnota, James F; Lambert, Linda M; Sananes, Renee; Richmond, Marc E; Hsu, Daphne T; Miller, Stephen G; Zyblewski, Sinai C; Williams, Richard V

    2016-01-01

    To assess the variability in asymmetric growth and its association with neurodevelopment in infants with single ventricle (SV). We analyzed weight-for-age z-score minus head circumference-for-age z-score (HCAZ), relative head growth (cm/kg), along with individual growth variables in subjects prospectively enrolled in the Infant Single Ventricle Trial. Associations between growth indices and scores on the Psychomotor Developmental Index (PDI) and Mental Developmental Index (MDI) of the Bayley Scales of Infant Development-II (BSID-II) at 14 months were assessed. Of the 230 subjects enrolled in the Infant Single Ventricle trial, complete growth data and BSID-II scores were available in 168 (73%). Across the cohort, indices of asymmetric growth varied widely at enrollment and before superior cavopulmonary connection (SCPC) surgery. BSID-II scores were not associated with these asymmetry indices. In bivariate analyses, greater pre-SCPC HCAZ correlated with higher MDI (r = 0.21; P = .006) and PDI (r = 0.38; P SCPC with higher PDI (r = 0.15; P = .049). In multivariable modeling, pre-SCPC HCAZ was an independent predictor of PDI (P = .03), but not MDI. In infants with SV, growth asymmetry was not associated with neurodevelopment at 14 months, but pre-SCPC HCAZ was associated with PDI. Asymmetric growth, important in other high-risk infants, is not a brain-sparing adaptation in infants with SV. Clinicaltrials.gov: NCT00113087. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Substance use, dental hygiene, and physical activity in adult patients with single ventricle physiology

    DEFF Research Database (Denmark)

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

    2013-01-01

    .596); 20% have had no dental visits during the last year (25% in controls; OR = 1.07; P = 0.684); 46% are not flossing their teeth (32% in controls; OR = 1.32; P = 0.239); and 39% are not physically active (24% in controls; OR = 1.63; P = 0.069). CONCLUSIONS: While in general there was no significant......OBJECTIVES: The study aims to describe substance use, dental hygiene, and physical activity in adult survivors with single ventricle physiology (SVP) and to compare the behaviors with matched controls, while the patients are particularly at risk for general health problems. DESIGN: The present...

  13. Ventricular assist device support in patients with single ventricles: the Melbourne experience.

    Science.gov (United States)

    Poh, Chin L; Chiletti, Roberto; Zannino, Diana; Brizard, Christian; Konstantinov, Igor E; Horton, Stephen; Millar, Johnny; d'Udekem, Yves

    2017-08-01

    The capacity and limitations of ventricular assist device (VAD) support in single-ventricle physiology remains poorly understood. We aimed to review our experience in the use of VAD support in the single-ventricle circulation to determine its feasibility in this population. We reviewed our experience with VAD support in patients with single ventricles over the past 25 years. Fifty-seven patients received 64 runs of VAD support between 1990 and 2015 at a median age of 13 days [interquartile range (IQR) 4.1-99.4 days], of which 55 were supported for post-cardiotomy failure. The majority of patients received short-term VAD support, while 4 patients were either directly supported (1) or transitioned onto the Berlin Heart EXCOR (3). The median duration of support was 3.5 days (IQR 2.8-5.2 days). Twelve patients suffered significant neurological complications, and thromboembolic events occurred in 8 patients. Twenty-nine of the 55 patients were successfully weaned off support (53%). There were 37 inpatient deaths, with a survival-to-hospital discharge rate of 33% (18 of 55). Of the 4 patients supported after early Fontan failure, 3 died. Having a higher mean arterial blood pressure on initiation of VAD support was the only significant predictor of death (hazards ratio 1.08; 95% confidence interval 1.03-1.14; P = 0.002). Patients who required a second run of support had higher hospital mortality (83% vs 63%; P = 0.84). Of the hospital survivors, 12 patients (63%) remain alive without heart transplantation at median 7.2 years (IQR 3.5-14.0) post VAD support. VAD support in patients with a single ventricle has a high hospital mortality, with 1 of 3 patients surviving to discharge. Systemic VAD support is likely futile in the setting of early Fontan failure or when re-initiation of support is required. © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  14. Challenges of management and therapy in patients with a functionally single ventricle after Fontan operation.

    Science.gov (United States)

    Trojnarska, Olga; Ciepłucha, Aleksandra

    2011-01-01

    Forty years ago, Fontan and Baudet performed the first life-saving operation on a patient with a functionally single ventricle. This multi-stage procedure established the connection between systemic venous circulation and pulmonary arteries. As a consequence, the pulmonary circulation is supplied in a passive way, whereas the single ventricle pumps the blood into the systemic circulation only. Over the years, the technique of creating the abovementioned vascular connections has undergone several modifications. Due to the fundamental non-physiological hemodynamic relations between arterial pulmonary and systemic venous pressures, numerous complications can be observed in these patients including: supraventricular arrhythmias, thromboemboli, hepatic dysfunction, protein-losing enteropathy, heart failure, worsening cyanosis, systemic venous collateralization, and pulmonary arteriovenous malformations, as well as connective tissue lesions in bronchi. Although based on an ingenious concept, the operation remains of a palliative character. Occasionally, heart transplantation is the ultimate resolution. Pharmacological therapy, and surgical conversion, often appear to be ineffective. However, this procedure has enabled many patients to reach adulthood and enjoy their lives to the full. This fact poses a great challenge for cardiologists wishing to become more knowledgeable and experienced as regards such patients, if we are not to waste such fabulous surgical achievements.

  15. Shape Optimization of the Assisted Bi-directional Glenn surgery for stage-1 single ventricle palliation

    Science.gov (United States)

    Verma, Aekaansh; Shang, Jessica; Esmaily-Moghadam, Mahdi; Wong, Kwai; Marsden, Alison

    2016-11-01

    Babies born with a single functional ventricle typically undergo three open-heart surgeries starting as neonates. The first of these stages (BT shunt or Norwood) has the highest mortality rates of the three, approaching 30%. Proceeding directly to a stage-2 Glenn surgery has historically demonstrated inadequate pulmonary flow (PF) & high mortality. Recently, the Assisted Bi-directional Glenn (ABG) was proposed as a promising means to achieve a stable physiology by assisting the PF via an 'ejector pump' from the systemic circulation. We present preliminary parametrization and optimization results for the ABG geometry, with the goal of increasing PF. To limit excessive pressure increases in the Superior Vena Cava (SVC), the SVC pressure is included as a constraint. We use 3-D finite element flow simulations coupled with a single ventricle lumped parameter network to evaluate PF & the pressure constraint. We employ a derivative free optimization method- the Surrogate Management Framework, in conjunction with the OpenDIEL framework to simulate multiple simultaneous evaluations. Results show that nozzle diameter is the most important design parameter affecting ABG performance. The application of these results to patient specific situations will be discussed. This work was supported by an NSF CAREER award (OCI1150184) and by the XSEDE National Computing Resource.

  16. Management of single-ventricle patients with Berlin Heart EXCOR Ventricular Assist Device: single-center experience.

    Science.gov (United States)

    Mackling, Tracey; Shah, Tejas; Dimas, Vivian; Guleserian, Kristine; Sharma, Mahesh; Forbess, Joseph; Ardura, Monica; Gross-Toalson, Jami; Lee, Ying; Journeycake, Janna; Barnes, Aliessa

    2012-06-01

    There are minimal data regarding chronic management of single-ventricle ventricular assist device (VAD) patients. This study aims to describe our center's multidisciplinary team management of single-ventricle patients supported long term with the Berlin Heart EXCOR Pediatric VAD. Patient #1 was a 4-year-old with double-outlet right ventricle with aortic atresia, L-looped ventricles, and heart block who developed heart failure 1 year after Fontan. She initially required extracorporeal membrane oxygenation support and was transitioned to Berlin Heart systemic VAD. She was supported for 363 days (cardiac intensive care unit [CICU] 335 days, floor 28 days). The postoperative course was complicated by intermittent infection including methicillin-resistant Staphylococcus aureus, intermittent hepatic and renal insufficiencies, and transient antithrombin, protein C, and protein S deficiencies resulting in multiple thrombi. She had a total of five pump changes over 10 months. Long-term medical management included anticoagulation with enoxaparin, platelet inhibition with aspirin and dipyridamole, and antibiotic prophylaxis using trimethoprim/sulfamethoxazole. She developed sepsis of unknown etiology and subsequently died from multiorgan failure. Patient #2 was a 4-year-old with hypoplastic left heart syndrome who developed heart failure 2 years after bidirectional Glenn shunt. At systemic VAD implantation, he was intubated with renal insufficiency. Post-VAD implantation, his renal insufficiency resolved, and he was successfully extubated to daytime nasal cannula and biphasic positive airway pressure at night. He was supported for 270 days (CICU 143 days, floor 127 days). The pump was upsized to a 50-mL pump in May 2011 for increased central venous pressures (29 mm Hg). Long-term medical management included anticoagulation with warfarin and single-agent platelet inhibition using dipyridamole due to aspirin resistance. He developed increased work of breathing requiring

  17. Single-breath-hold 3-D CINE imaging of the left ventricle using Cartesian sampling.

    Science.gov (United States)

    Wetzl, Jens; Schmidt, Michaela; Pontana, François; Longère, Benjamin; Lugauer, Felix; Maier, Andreas; Hornegger, Joachim; Forman, Christoph

    2018-02-01

    Our objectives were to evaluate a single-breath-hold approach for Cartesian 3-D CINE imaging of the left ventricle with a nearly isotropic resolution of [Formula: see text] and a breath-hold duration of [Formula: see text]19 s against a standard stack of 2-D CINE slices acquired in multiple breath-holds. Validation is performed with data sets from ten healthy volunteers. A Cartesian sampling pattern based on the spiral phyllotaxis and a compressed sensing reconstruction method are proposed to allow 3-D CINE imaging with high acceleration factors. The fully integrated reconstruction uses multiple graphics processing units to speed up the reconstruction. The 2-D CINE and 3-D CINE are compared based on ventricular function parameters, contrast-to-noise ratio and edge sharpness measurements. Visual comparisons of corresponding short-axis slices of 2-D and 3-D CINE show an excellent match, while 3-D CINE also allows reformatting to other orientations. Ventricular function parameters do not significantly differ from values based on 2-D CINE imaging. Reconstruction times are below 4 min. We demonstrate single-breath-hold 3-D CINE imaging in volunteers and three example patient cases, which features fast reconstruction and allows reformatting to arbitrary orientations.

  18. Neuro-developmental outcome in single-ventricle patients: is the Norwood procedure a risk factor?

    Science.gov (United States)

    Rotermann, Ina; Logoteta, Jana; Falta, Janine; Wegner, Philip; Jung, Olaf; Dütschke, Peter; Scheewe, Jens; Kramer, Hans-Heiner; Hansen, Jan Hinnerk

    2017-09-01

    Complex neonatal surgery is considered a risk factor for neuro-developmental impairment in single-ventricle patients. Neuro-developmental outcome was compared between preschool-aged Fontan patients who underwent a Norwood procedure and single-ventricle patients not requiring neonatal surgery with cardiopulmonary bypass. Verbal, performance and full-scale intelligence quotient (IQ) were evaluated with the Wechsler Preschool and Primary Scale of Intelligence. Cognitive functions were assessed with the German 'Kognitiver Entwicklungstest für das Kindergartenalter' (KET-KID). Risk factors for impaired neuro-development were evaluated. Neuro-developmental assessment was completed in 95 patients (Norwood: n = 69; non-Norwood: n = 26). Median (interquartile range) IQ and KET-KID scores were in the normal range. Except for verbal KET-KID, scores did not differ between Norwood and non-Norwood patients (verbal IQ: 98 (86-105) vs 93 (85-102), P = 0.312; performance IQ: 91 (86-100) vs 96 (86-100), P = 0.932; full-scale IQ: 93 (86-101) vs 89 (84-98), P = 0.314; KET-KID verbal: 48 (17-72) vs 25 (2-54), P = 0.020; KET-KID non-verbal: 33 (18-62) vs 45 (15-54), P = 0.771; KET-KID global: 42 (14-65) vs 28 (6-63), P = 0.208). Full-scale IQ was below average (<85 points) in 14 (20%) Norwood and 9 (35%) non-Norwood cases (P = 0.181). Global KET-KID was below average (<16th percentile) in 19 (28%) and 10 (38%) patients (P = 0.326). Smaller head circumference z-score and complications before neonatal surgery were independently associated with lower scores. Neuro-developmental outcome of preschool-aged Fontan patients was in the normal range. The Norwood procedure was not a risk factor for neuro-developmental impairment. Preoperative condition and patient-related factors were more important determinants than variables related to surgical palliation. © The Author 2017. Published by Oxford University Press on behalf of the European Association for

  19. Outcomes following the Kawashima procedure for single-ventricle palliation in left atrial isomerism.

    Science.gov (United States)

    Vollebregt, Anne; Pushparajah, Kuberan; Rizvi, Maleeha; Hoschtitzky, Andreas; Anderson, David; Austin, Conal; Tibby, Shane M; Simpson, John

    2012-03-01

    Patients with left atrial isomerism and interrupted inferior vena cava palliated with a superior cavopulmonary connection or Kawashima procedure (KP) have a high incidence of developing pulmonary arteriovenous malformations. The necessity for hepatic vein redirection (HVR) and its timing remains a controversy. We aimed to assess the clinical outcome of patients with left atrial isomerism following a KP. The main end points were death, requirement for HVR and the impact of HVR on oxygen saturation. Retrospective review of 21 patients with a diagnosis of left atrial isomerism, interruption of the inferior vena cava and single-ventricle physiology managed with a KP at a single centre between January 1990 and March 2010. Twenty-one patients had a KP, with 12 subsequently undergoing HVR. There was relatively a constant monthly decrement in the proportion of patients who were free from death or HVR up until 60 months following the KP, with a dramatic increase in the hazard after this time. The Cox proportional hazards regression model demonstrated a reduced early risk for HVR or death in patients who underwent pulmonary artery banding versus arterial shunt as the primary procedure (hazard ratio: 0.10; P = 0.01), and an increased risk with bilateral superior vena cavas (SVCs) (hazard ratio: 3.4; P = 0.04) and age at KP (hazard ratio: 1.02 per month increase in age at KP; P = 0.02). HVR mortality was relatively high with 3 of 12 patients dying in the early postoperative period with profound cyanosis. The timing of HVR after the KP did not influence the postoperative rate of increase in oxygen saturation. These findings confirm that the majority of patients who undergo a KP will require HVR. Patients who are older at the time of the KP or having an initial arterial shunt or bilateral SVCs are at higher risk of HVR or death. The relatively high mortality at HVR was characterized by severe postoperative cyanosis.

  20. Thrombotic complications and thromboprophylaxis across all three stages of single ventricle heart palliation.

    Science.gov (United States)

    Manlhiot, Cedric; Brandão, Leonardo R; Kwok, Judith; Kegel, Stefan; Menjak, Ines B; Carew, Caitlin L; Chan, Anthony K; Schwartz, Steven M; Sivarajan, V Ben; Caldarone, Christopher A; Van Arsdell, Glen S; McCrindle, Brian W

    2012-09-01

    To describe the incidence of thrombotic complications across all 3 stages of single ventricle palliation and the association between thromboprophylaxis use and thrombotic risk. Two separate cross-sectional studies were performed that included 195 patients born between 2003-2008 and 162 patients who underwent Fontan after 2000. The incidence of thrombotic complications was 40% and 28% after initial palliation and superior cavopulmonary connection (SCPC), respectively; 5-year freedom from thrombotic complications after Fontan was 79%. Thromboprophylaxis was initiated for 70%, 46%, and 94% of patients after initial palliation, SCPC, and Fontan, respectively. Thromboprophylaxis with enoxaparin (vs no thromboprophylaxis) was associated with a reduction in risk of thrombotic complications after initial palliation (hazard ratio [HR] 0.5, P = .05) and SCPC (HR 0.2, P = .04). Thromboprophylaxis with warfarin was associated with a reduction in thrombotic complications after Fontan (HR 0.27, P = .05 vs acetylsalicylic acid; HR 0.18, P = .02 vs no thromboprophylaxis). Thrombotic complications were associated with increased mortality after initial palliation (HR 5.5, P SCPC (HR 12.5, P < .001). Three patients experienced major bleeding complications without permanent sequelae (2 enoxaparin, 1 warfarin). Given the negative impact of thrombotic complications on survival, the low risk of serious bleeding complications, and the association between thromboprophylaxis and lowered thrombotic complication risk across all 3 palliative stages, routine use of thromboprophylaxis from the initial palliation to the early post-Fontan period in this population may be indicated. Copyright © 2012 Mosby, Inc. All rights reserved.

  1. Factors associated with serum B-type natriuretic peptide in infants with single ventricles.

    Science.gov (United States)

    Butts, Ryan J; Zak, Victor; Hsu, Daphne; Cnota, James; Colan, Steven D; Hehir, David; Kantor, Paul; Levine, Jami C; Margossian, Renee; Richmond, Marc; Szwast, Anita; Williams, Derek; Williams, Richard; Atz, Andrew M

    2014-06-01

    Data regarding the value of B-type natriuretic peptide (BNP) measurements in infants with a single-ventricle (SV) physiology are lacking. This analysis aimed to describe the BNP level changes in infants with an SV physiology before and after superior cavopulmonary connection (SCPC) surgery. Levels of BNP were measured by a core laboratory before SCPC (at 5.0 ± 1.6 months) and at the age of 14 months during a multicenter trial of angiotensin-converting enzyme inhibition therapy for infants with SV. Multivariable longitudinal analysis was used to model the associations between BNP levels and three sets of grouped variables (echocardiography, catheterization, growth). Multivariable analysis was performed to assess associations with patient characteristics at both visits. Associations between BNP levels and neurodevelopmental variables were investigated at the 14 month visit because neurodevelopmental assessment was performed only at this visit. The BNP level was significantly higher before SCPC (n = 173) than at the age of 14 months (n = 134). The respective median levels were 80.8 pg/ml (interquartile range [IQR], 35-187 pg/ml) and 34.5 pg/ml (IQR, 17-67 pg/ml) (p SCPC and in 21 subjects (16 %) at the age of 14 months. In the 117 patients who had BNP measurements at both visits, the median BNP level decreased 32 pg/ml (IQR, 1-79 pg/ml) (p SCPC surgery (p SCPC surgery (p = 0.04), and a lower Bayley psychomotor developmental index (p = 0.02). The levels of BNP decreases in infants with SV from the pre-SCPC visit to the age of 14 months. A higher BNP level is associated with increased ventricular dilation in systole, increased AV valve regurgitation, impaired growth, and poorer neurodevelopmental outcomes. Therefore, BNP level may be a useful seromarker for identifying infants with SV at risk for worse outcomes.

  2. Controlled reoxygenation during cardiopulmonary bypass decreases markers of organ damage, inflammation, and oxidative stress in single-ventricle patients undergoing pediatric heart surgery.

    Science.gov (United States)

    Caputo, Massimo; Mokhtari, Amir; Miceli, Antonio; Ghorbel, Mohamed T; Angelini, Gianni D; Parry, Andrew J; Suleiman, Saadeh M

    2014-09-01

    Single-ventricle patients undergoing pediatric heart surgery are a high-risk group owing to reoxygenation injury during cardiopulmonary bypass (CPB). The present study investigated the effects of controlled reoxygenation CPB on biomarkers of organ damage, inflammation, stress, and long-term functional outcomes in cyanotic patients with either a single or double ventricle during open heart surgery. Cyanotic patients with either a single (n = 32) or double (n = 47) ventricle undergoing surgical correction were randomized to receive CPB using either standard oxygen levels or controlled reoxygenation. The markers of cardiac injury, inflammation, stress, and cerebral and hepatic injury were measured preoperatively, at 10 and 30 minutes after starting CPB, and at 10 minutes and 4 and 24 hours after CPB. The data were analyzed using a mixed regression model. No difference was found in the pre- or intraoperative characteristics between the standard and controlled reoxygenation CPB groups for single- or double-ventricle patients. In the single-ventricle patients, controlled reoxygenation CPB significantly (P markers of organ damage, inflammation, stress, and oxidative stress. In contrast, the markers of inflammation and cardiac injury were not altered by controlled reoxygenation CPB in the double-ventricle patients. Controlled reoxygenation CPB decreased the markers of organ damage, stress, inflammation, and oxidative stress in single-ventricle patients undergoing cardiac surgery. Copyright © 2014 The American Association for Thoracic Surgery. Published by Mosby, Inc. All rights reserved.

  3. Post-cardiotomy extracorporeal cardiopulmonary resuscitation in neonates with complex single ventricle: analysis of outcomes.

    Science.gov (United States)

    Polimenakos, Anastasios C; Wojtyla, Patrice; Smith, Pamela J; Rizzo, Vincent; Nater, Melissa; El Zein, Chawki F; Ilbawi, Michel N

    2011-12-01

    Extracorporeal cardiopulmonary resuscitation (ECPR) in children with cardiac arrest refractory to conventional cardiopulmonary resuscitation (CPR) has been reported with encouraging results. We sought to review outcomes of neonates with functional single ventricle (FSV) receiving post-cardiotomy ECPR. Forty-eight patients who required post-cardiotomy extracorporeal membrane oxygenation (ECMO) since the introduction of our ECPR protocol (January 2007-December 2009) were identified. Twenty-seven were neonates. Review of records and survival analysis were conducted. Of 27 neonates receiving post-cardiotomy ECMO 20 had FSV. Fourteen had ECPR. Ten underwent Norwood operation (NO) for hypoplastic left heart syndrome (HLHS). Four had FSV other than HLHS. Three underwent Damus-Kay-Stansel or modified NO with systemic-to-pulmonary shunt (SPS) and one SPS with anomalous pulmonary venous connection repair. Mean age and weight were 7.8 ± 2.9 days and 3.44 ± 1.78 kg, respectively. ECMO median duration was 6 days (interquartile range (IQR) 3-14). Survival to ECMO discontinuation was 79% (11 of 14 patients) and at hospital discharge was 57% (8 of 14 patients). The most common cause of death was multi-organ failure (four of six deaths). At last follow-up (median: 11 months (1-34)) 43% of patients were alive. CPR mean duration for patients with favorable versus unfavorable outcome was 38.6 ± 6.3 versus 42.1 ± 7.7 min (p = 0.12). Previously reported determinants for poorer prognosis in conventional non-rescue ECMO (such as pre-ECMO pH0.05). ECMO support in neonates with FSV requiring ECPR can result in favorable outcome in more than half of patients at hospital discharge. Aggressive strategy toward timely application of ECPR is justified. Expeditious ECPR deployment after proper patients' selection, refinement of CPR quality and use of adjunctive neuroprotective interventions, such as induced hypothermia, might further improve outcomes. Copyright © 2011 European Association for

  4. The use of the Berlin Heart EXCOR in patients with functional single ventricle.

    Science.gov (United States)

    Weinstein, Samuel; Bello, Ricardo; Pizarro, Christian; Fynn-Thompson, Francis; Kirklin, James; Guleserian, Kristine; Woods, Ronald; Tjossem, Christine; Kroslowitz, Robert; Friedmann, Patricia; Jaquiss, Robert

    2014-02-01

    The frequency and successful use of pediatric ventricular assist devices (VADs) as a bridge to cardiac transplantation have been steadily increasing since 2003, but the experience in patients with complex congenital heart disease has not been well described. Using a large prospectively collected dataset of children supported with the Berlin Heart EXCOR VAD, we have reviewed the experience in children with single ventricular anatomy or physiology (SV), and compared the results with those supported with biventricular circulation (BV) over the same time period. The EXCOR Investigational Device Exemption study database was retrospectively reviewed. VAD implants under the primary cohort and compassionate use cohort between May 2007 and December 2011 were included in this review. Twenty-six of 281 patients supported with a VAD were SV. The most common diagnosis was hypoplastic left heart syndrome (15 of 26). Nine patients were supported after neonatal palliative surgery (Blalock-Taussig shunt or Sano), 12 after a superior cavopulmonary connection (SCPC), and 5 after total cavopulmonary connection (TCPC). Two patients received biventricular assist devices, 1 after stage I surgery and 1 after stage II. SV patients were supported for a median time of 10.5 days (range, 1-363 days) versus 39 days (range, 0-435 days) for BV (P = .01). The ability to be bridged to transplant or recovery in SV patients is lower than for BV patients (11 of 26 [42.3%] vs 185 of 255 [72.5%]; P = .001). Three of 5 patients with TCPC were successfully bridged to transplant and were supported with 1 VAD. Seven of 12 patients with SCPC were bridged to transplant, and only 1 of 9 patients supported after a stage I procedure survived. The EXCOR Pediatric VAD can provide a bridge to transplant for children with SV anatomy or physiology, albeit less successfully than in children with BV. In this small series, results are better in patients with SCPC and TCPC. VAD support for patients with shunted sources

  5. Cyanotic congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

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

    1979-12-15

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

  6. Cyanotic congenital heart disease

    International Nuclear Information System (INIS)

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

    1979-01-01

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

  7. Um sistema de ventrículo pulmonar produzindo pressão pulsátil em único ventrículo: modelo experimental A pulmonary ventricle system producing pulsatile pressure in single ventricle: experimental model

    Directory of Open Access Journals (Sweden)

    Bilgein Emrecan

    2006-09-01

    Full Text Available OBJETIVO: Pacientes com ventrículo único funcional têm prognóstico ruim, que resulta em insuficiência cardíaca, mesmo após tratamento cirúrgico. As operações derivação cavo-pulmonar (exceto pelas conexões do átrio direito ao ventrículo direito não apresentam sistema ventricular pulmonar com pressão pulsátil, além do fluxo reduzido ao ventrículo único. Para resolver o problema, tentamos criar um ventrículo pulmonar que produza pressão pulsátil experimentalmente. MÉTODO: Tentamos criar um sistema ventricular direito que produzisse pressão pulsátil. O modelo experimental foi realizado em seis ovelhas. As pressões do ventrículo pulmonar criado, da artéria pulmonar e do ventrículo esquerdo foram medidas após a saída da circulação extracorpórea. RESULTADOS: A média das pressões arteriais pulmonares sistólica e diastólica foi 15,6 ± 2,0 mmHg e 4,5 ± 1,5 mmHg. A média da pressão sistólica ventricular esquerda foi 76,6 ± 4,4 mmHg. CONCLUSÃO: Um ventrículo que produza pressão pulsátil é necessário para a regulação do fluxo da artéria pulmonar, com pressão venosa central e pressão pulmonar não pulsátil nas anomalias como ventrículos únicos funcionais.OBJECTIVE: Patients with functional single ventricle show bad survey, most of which result in cardiac failure even in the case that they are operated. The right heart bypass operations except for right atrium and right ventricle connections lack pulsatile pulmonary ventricle system besides the volume lack coming to the common ventricle. To solve the problem, we tried to create a pulmonary ventricle which produces pulsatile pressure experimentally. METHODS: We tried to form a right ventricle system which produces pulsatile pressure. The experimental model was carried on six sheep. The pressures of the created pulmonary ventricle, pulmonary artery and the left ventricle were measured after leaving the cardiopulmonary bypass. RESULTS: The mean of the

  8. Children with single-ventricle physiology do not benefit from higher hemoglobin levels post cavopulmonary connection: results of a prospective, randomized, controlled trial of a restrictive versus liberal red-cell transfusion strategy.

    Science.gov (United States)

    Cholette, Jill M; Rubenstein, Jeffrey S; Alfieris, George M; Powers, Karen S; Eaton, Michael; Lerner, Norma B

    2011-01-01

    To examine the impact of a restrictive vs. liberal transfusion strategy on arterial lactate and oxygen content differences in children with single-ventricle physiology post cavopulmonary connection. Children with single-ventricle physiology are routinely transfused postoperatively to increase systemic oxygen delivery, and transfusion thresholds in this population have not been studied. Prospective, randomized, controlled, clinical trial. Pediatric cardiac intensive care unit in a teaching hospital. Infants and children (n = 60) with variations of single-ventricle physiology presenting for cavopulmonary connection. Subjects were randomized to a restrictive (hemoglobin of liberal (hemoglobin of ≥ 13.0 g/dL) transfusion strategy for 48 hrs post operation. Primary outcome measures were mean and peak arterial lactate. Secondary end points were arteriovenous (C(a-v)o2) and arteriocerebral oxygen content (C(a-c)o2) differences and clinical outcomes. A total of 30 children were in each group. There were no significant preoperative differences. Mean hemoglobin in the restrictive and liberal groups were 11 ± 1.3 g/dL and 13.9 ± 0.5 g/dL, respectively (p Liberal]) or peak (3.1 ± 1.5 mmol/L [Restrictive] vs. 3.2 ± 1.3 mmol/L [Liberal]) lactate between groups were found. Mean number of red blood cell transfusions were 0.43 ± 0.6 and 2.1 ± 1.2 (p liberal transfusion strategy after cavopulmonary connection. A restrictive red blood cell transfusion strategy decreases the number of transfusions, donor exposures, and potential risks in these children. Larger studies with clinical outcome measures are needed to determine the transfusion threshold for children post cardiac repair or palliation for congenital heart disease.

  9. Sex and age differences in body-image, self-esteem, and body mass index in adolescents and adults after single-ventricle palliation.

    Science.gov (United States)

    Pike, Nancy A; Evangelista, Lorraine S; Doering, Lynn V; Eastwood, Jo-Ann; Lewis, Alan B; Child, John S

    2012-06-01

    Single-ventricle congenital heart disease (SVCHD) requires multiple palliative surgical procedures that leave visible surgical scars and physical deficits, which can alter body-image and self-esteem. This study aimed to compare sex and age differences in body-image, self-esteem, and body mass index (BMI) in adolescents and adults with SVCHD after surgical palliation with those of a healthy control group. Using a comparative, cross-sectional design, 54 adolescent and adult (26 male and 28 female) patients, age 15–50 years, with SVCHD were compared with 66 age-matched healthy controls. Body-image and self-esteem were measured using the Multidimensional Body-Self Relations Questionnaire–Appearance Scale and Rosenberg Self-Esteem Scale. Height and weight were collected from retrospective chart review, and BMI was calculated. Female adolescents and adult patients with SVCHD reported lower body image compared with males patients with SVCHD and healthy controls (p = 0.003). Specific areas of concern were face (p = 0.002), upper torso or chest (p = 0.002), and muscle tone (p = 0.001). Patients with SVCHD who were \\21 years of age had lower body image compared with healthy controls (p = 0.006). Self-esteem was comparable for both patients with SVCHD and healthy peers. There were no sex differences in BMI; BMI was higher in subjects[21 years of age (p = 0.01). Despite the similarities observed in self-esteem between the two groups, female patients with SVCHD\\21 years of age reported lower perceived body-image. Our findings support the need to recognize poor psychological adjustment related to low self-esteem in patients with SVCHD; female patients warrant increased scrutiny. Strategies to help patients with SVCHD cope with nonmodifiable aspects of body-image during the difficult adolescent–to–young adult years may potentially enhance self-esteem and decrease psychological distress.

  10. Comparison of two single-breath-held 3-D acquisitions with multi-breath-held 2-D cine steady-state free precession MRI acquisition in children with single ventricles.

    Science.gov (United States)

    Atweh, Lamya A; Dodd, Nicholas A; Krishnamurthy, Ramkumar; Pednekar, Amol; Chu, Zili D; Krishnamurthy, Rajesh

    2016-05-01

    Breath-held two-dimensional balanced steady--state free precession cine acquisition (2-D breath-held SSFP), accelerated with parallel imaging, is the method of choice for evaluating ventricular function due to its superior blood-to-myocardial contrast, edge definition and high intrinsic signal-to-noise ratio throughout the cardiac cycle. The purpose of this study is to qualitatively and quantitatively compare the two different single-breath-hold 3-D cine SSFP acquisitions using 1) multidirectional sensitivity encoding (SENSE) acceleration factors (3-D multiple SENSE SSFP), and 2) k-t broad-use linear acceleration speed-up technique (3-D k-t SSFP) with the conventional 2-D breath-held SSFP in non-sedated asymptomatic volunteers and children with single ventricle congenital heart disease. Our prospective study was performed on 30 non-sedated subjects (9 healthy volunteers and 21 functional single ventricle patients), ages 12.5 +/- 2.8 years. Two-dimensional breath-held SSFP with SENSE acceleration factor of 2, eight-fold accelerated 3-D k-t SSFP, and 3-D multiple SENSE SSFP with total parallel imaging factor of 4 were performed to evaluate ventricular volumes and mass in the short-axis orientation. Image quality scores (blood myocardial contrast, edge definition and interslice alignment) and volumetric analysis (end systolic volume, end diastolic volume and ejection fraction) were performed on the data sets by experienced users. Paired t-test was performed to compare each of the 3-D k-t SSFP and 3-D multiple SENSE SSFP clinical scores against 2-D breath-held SSFP. Bland-Altman analysis was performed on left ventricle (LV) and single ventricle volumetry. Interobserver and intraobserver variability in volumetric measurements were determined using intraclass coefficients. The clinical scores were highest for the 2-D breath-held SSFP images. Between the two 3-D sequences, 3-D multiple SENSE SSFP performed better than 3-D k-t SSFP. Bland-Altman analysis for volumes

  11. Comparison of two single-breath-held 3-D acquisitions with multi-breath-held 2-D cine steady-state free precession MRI acquisition in children with single ventricles

    Energy Technology Data Exchange (ETDEWEB)

    Atweh, Lamya A.; Dodd, Nicholas A.; Krishnamurthy, Ramkumar; Chu, Zili D. [Texas Children' s Hospital, EB Singleton Department of Pediatric Radiology, Cardiovascular Imaging, Houston, TX (United States); Pednekar, Amol [Philips Healthcare, Houston, TX (United States); Krishnamurthy, Rajesh [Texas Children' s Hospital, EB Singleton Department of Pediatric Radiology, Cardiovascular Imaging, Houston, TX (United States); Baylor College of Medicine, Department of Radiology, Houston, TX (United States); Baylor College of Medicine, Department of Pediatrics, Houston, TX (United States)

    2016-05-15

    Breath-held two-dimensional balanced steady-state free precession cine acquisition (2-D breath-held SSFP), accelerated with parallel imaging, is the method of choice for evaluating ventricular function due to its superior blood-to-myocardial contrast, edge definition and high intrinsic signal-to-noise ratio throughout the cardiac cycle. The purpose of this study is to qualitatively and quantitatively compare the two different single-breath-hold 3-D cine SSFP acquisitions using 1) multidirectional sensitivity encoding (SENSE) acceleration factors (3-D multiple SENSE SSFP), and 2) k-t broad-use linear acceleration speed-up technique (3-D k-t SSFP) with the conventional 2-D breath-held SSFP in non-sedated asymptomatic volunteers and children with single ventricle congenital heart disease. Our prospective study was performed on 30 non-sedated subjects (9 healthy volunteers and 21 functional single ventricle patients), ages 12.5 +/- 2.8 years. Two-dimensional breath-held SSFP with SENSE acceleration factor of 2, eight-fold accelerated 3-D k-t SSFP, and 3-D multiple SENSE SSFP with total parallel imaging factor of 4 were performed to evaluate ventricular volumes and mass in the short-axis orientation. Image quality scores (blood myocardial contrast, edge definition and interslice alignment) and volumetric analysis (end systolic volume, end diastolic volume and ejection fraction) were performed on the data sets by experienced users. Paired t-test was performed to compare each of the 3-D k-t SSFP and 3-D multiple SENSE SSFP clinical scores against 2-D breath-held SSFP. Bland-Altman analysis was performed on left ventricle (LV) and single ventricle volumetry. Interobserver and intraobserver variability in volumetric measurements were determined using intraclass coefficients. The clinical scores were highest for the 2-D breath-held SSFP images. Between the two 3-D sequences, 3-D multiple SENSE SSFP performed better than 3-D k-t SSFP. Bland-Altman analysis for volumes

  12. Non-compact left ventricle/hypertrabeculated left ventricle

    International Nuclear Information System (INIS)

    Restrepo, Gustavo; Castano, Rafael; Marmol, Alejandro

    2005-01-01

    Non-compact left ventricle/hypertrabeculated left ventricle is a myocardiopatie produced by an arrest of the normal left ventricular compaction process during the early embryogenesis. It is associated to cardiac anomalies (congenital cardiopaties) as well as to extracardial conditions (neurological, facial, hematologic, cutaneous, skeletal and endocrinological anomalies). This entity is frequently unnoticed, being diagnosed only in centers with great experience in the diagnosis and treatment of myocardiopathies. Many cases of non-compact left ventricle have been initially misdiagnosed as hypertrophic myocardiopatie, endocardial fibroelastosis, dilated cardiomyopatie, restrictive cardiomyopathy and endocardial fibrosis. It is reported the case of a 74 years old man with a history of chronic arterial hypertension and diabetes mellitus, prechordial chest pain and mild dyspnoea. An echocardiogram showed signs of non-compact left ventricle with prominent trabeculations and deep inter-trabecular recesses involving left ventricular apical segment and extending to the lateral and inferior walls. Literature on this topic is reviewed

  13. Twin heart with a fused atria and separate ventricles in conjoined twins.

    Science.gov (United States)

    Ambar, Sameer Suresh; Halkati, Prabhu C; Patted, Suresh V; Yavagal, St

    2010-07-01

    One of the most interesting congenital malformations is that of conjoined twins. We report echocardiographic features of twin heart in dicephalus, tribrachius, dispinous, thoracoomphalopagus twin. It showed two hearts fused at atrial level. Right-sided heart had single atrial chamber with a single ventricle. A single great vessel, aorta, originated from it. Left-sided heart was well developed with two atria and two ventricles. There was a small mid muscular ventricular septal defect and a small patent ductus arteriosus. Great arteries had normal origins.

  14. 2D speckle tracking echocardiography of the right ventricle free wall in SCUBA divers after single open sea dive.

    Science.gov (United States)

    Susilovic-Grabovac, Zora; Obad, Ante; Duplančić, Darko; Banić, Ivana; Brusoni, Denise; Agostoni, Piergiuseppe; Vuković, Ivica; Dujic, Zeljko; Bakovic, Darija

    2018-03-01

    The presence of circulating gas bubbles and their influence on pulmonary and right heart hemodynamics was reported after uncomplicated self-contained underwater breathing apparatus (SCUBA) dive(s). Improvements in cardiac imaging have recently focused great attention on the right ventricle (RV). The aim of our study was to evaluate possible effects of a single air SCUBA dive on RV function using 2D speckle tracking echocardiography in healthy divers after single open sea dive to 18 meters of seawater, followed by bottom stay of 47 minutes with a direct ascent to the surface. Twelve experienced male divers (age 39.5 ± 10.5 years) participated in the study. Echocardiographic assessment of the right ventricular function (free wall 2 D strain, tricuspid annular planes systolic excursion [TAPSE], lateral tricuspid annular peak systolic velocity [RV s`] and fractional area change [FAC]) was performed directly prior to and 30, 60, 90 and 120 minutes after surfacing. Two-dimensional strain of all three segments of free right ventricular wall showed a significant increase in longitudinal shortening in post-dive period for maximally 26% (basal), 15.4% (mid) and 16.3% (apical) as well as TAPSE (11.6%), RV FAC (19.2%), RV S` (12.7%) suggesting a rise in systolic function of right heart. Mean pulmonary arterial pressure (mean PAP) increased post-dive from 13.3 mmHg to maximally 23.5 mmHg (P = .002), indicating increased RV afterload. Our results demonstrated that single dive with significant bubble load lead to increase in systolic function and longitudinal strain of the right heart in parallel with increase in mean PAP. © 2017 John Wiley & Sons Australia, Ltd.

  15. Supplemental tube feeding does not mitigate weight loss in infants with shunt-dependent single-ventricle physiology.

    Science.gov (United States)

    Di Maria, Michael V; Glatz, Andrew C; Ravishankar, Chitra; Quartermain, Michael D; Rush, Christina Hayden; Nance, Michael; William Gaynor, J; Goldberg, David J

    2013-08-01

    Infants with shunt-dependent single-ventricle (SV) physiology are at risk for poor weight gain before superior cavopulmonary connection (SCPC). Lower weight-for-age z-score is a risk factor for prolonged length of stay (LOS) after SCPC. We sought to characterize infant growth and feeding and determine the effect of method of feeding on outcomes. Chart review of infants with shunt-dependent SV physiology born between October 2007 and September 2010 was performed. The cohort was divided into three groups based on feeding method at discharge after initial palliation; 53 in the oral feeding (PO) group, 56 in the nasogastric (NG) tube group, and 26 in the gastrostomy tube (GT) group. Birth weight z-score did not differ among groups (p = 0.39), but infants fed by NG or GT were smaller than PO-fed infants at hospital discharge (p = 0.0001), a difference that persisted through SCPC (p SCPC did not differ among groups. Risk factors for longer LOS at SCPC included longer LOS and need for supplemental feeds at discharge from initial palliation as well as lower weight at SCPC. Poor growth is common among infants with shunt-dependent SV physiology. Infants who require GT have lower weight-for-age z-scores at hospital discharge and remain smaller at SCPC than those fed PO. Although GT after initial palliation is associated with longer LOS after SCPC, it is not associated with an increase in interstage morbidity or mortality.

  16. Double chambered right ventricle

    Energy Technology Data Exchange (ETDEWEB)

    Cho, Chul Koo; Yu, Yun Jeong; Yeon, Kyung Mo; Han, Man Chung [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1983-12-15

    Fourteen cases of double chambered right ventricle were diagnosed angiographically and of these nine cases were confirmed after operation and autopsy at Seoul National University Hospital in recent four years since 1979. The clinical and radiological findings with the emphasis on the cinecardiographic findings were analysed. The summaries of the analysis are as follows: 1. Among 14 cases, 6 cases were male and 8 cases were female. Age distribution was from 4 years to 36 years. 2. In chest x-ray findings, pulmonary vascularity was increased in 8 cases, decreased in 4 cases, and normal in 2 cases. Cardiomegaly was observed in 8 cases and other showed normal heart size. 3. In cinecardiography, 11 cases had interventricular septal defect. Among these 11 cases, VSD located in proximal high pressure chamber was in 2 cases and located in distal low pressure chamber was in 9 cases. 4. The location of aberrant muscle bundle in sinus portion of right ventricle was in 8 cases. In the rest 6 cases, the aberrant muscle bundle was located below the infundibulum of right ventricle. 5. For accurate diagnosis and differential diagnosis with other congenital cardiac anomalies such as Tetralogy of Fallot or isolated pulmonic stenosis, biplane cineangiography and catheterization is an essential procedure.

  17. Double chambered right ventricle

    International Nuclear Information System (INIS)

    Cho, Chul Koo; Yu, Yun Jeong; Yeon, Kyung Mo; Han, Man Chung

    1983-01-01

    Fourteen cases of double chambered right ventricle were diagnosed angiographically and of these nine cases were confirmed after operation and autopsy at Seoul National University Hospital in recent four years since 1979. The clinical and radiological findings with the emphasis on the cinecardiographic findings were analysed. The summaries of the analysis are as follows: 1. Among 14 cases, 6 cases were male and 8 cases were female. Age distribution was from 4 years to 36 years. 2. In chest x-ray findings, pulmonary vascularity was increased in 8 cases, decreased in 4 cases, and normal in 2 cases. Cardiomegaly was observed in 8 cases and other showed normal heart size. 3. In cinecardiography, 11 cases had interventricular septal defect. Among these 11 cases, VSD located in proximal high pressure chamber was in 2 cases and located in distal low pressure chamber was in 9 cases. 4. The location of aberrant muscle bundle in sinus portion of right ventricle was in 8 cases. In the rest 6 cases, the aberrant muscle bundle was located below the infundibulum of right ventricle. 5. For accurate diagnosis and differential diagnosis with other congenital cardiac anomalies such as Tetralogy of Fallot or isolated pulmonic stenosis, biplane cineangiography and catheterization is an essential procedure

  18. Single Ventricle Defects

    Science.gov (United States)

    ... heart defects along with pulmonary atresia. (Children with tetralogy of Fallot who also have pulmonary atresia may have treatment similar to others with tetralogy of Fallot.) How does it affect the heart? An opening ...

  19. Congenital diaphragmatic hernia: A 4-year experience in a single ...

    African Journals Online (AJOL)

    Abstract. Background: This study aimed to evaluate congenital diaphragmatic hernia (CDH) patients in our department during a 4-year period. Patients and Methods: A retrospective study of 10 cases of CDH patients managed in the Neonatology and Pediatric Surgery Units of Goztepe Teaching Hospital from 2000 to 2004.

  20. Factors associated with systemic to pulmonary arterial collateral flow in single ventricle patients with superior cavopulmonary connections.

    Science.gov (United States)

    Glatz, Andrew C; Harrison, Neil; Small, Adam J; Dori, Yoav; Gillespie, Matthew J; Harris, Matthew A; Fogel, Mark A; Rome, Jonathan J; Whitehead, Kevin K

    2015-11-01

    Systemic to pulmonary arterial collateral flow (CollF) is common in single ventricle patients with superior cavopulmonary connections (SCPC), although associations with CollF are not well understood. We previously described a method to quantify CollF by cardiac MRI (CMR). We sought to identify factors associated with CollF in a large cross section of patients with SCPC. A retrospective observational cohort study of events from birth to study CMR was performed for all patients with SCPC who had CollF quantified by CMR. CollF was quantified in 96 patients at a median age of 2.6 (IQR 1.9-3.1) years and 2.1 (1.4-2.7) years after SCPC and measured 1.6±0.7 L/min/m(2) (33±11% of aortic flow and 48±16% of pulmonary venous flow). Significantly higher amounts of indices of CollF were associated with: duration of chest tubes (p≤0.05 for all), intensive care unit and hospital length of stay (p≤0.04 for all), higher O2 saturation at Stage 2 discharge (p=0.04 for CollF/aortic), female sex (p≤0.007 for CollF/aortic and CollF/pulmonary venous), and history of a Blalock-Taussig shunt (p<0.04 for CollF and CollF/aortic). Multivariable models were constructed to identify factors independently associated with CollF measures and included: female sex (p≤0.006 for all), O2 saturation at Stage 2 discharge (p=0.013 for CollF/aortic) and total chest tube days (p=0.001 for all). These models explained 20-22% of the variance in the outcomes. These data support hypotheses that perioperative morbidity and pleural inflammation play a role in CollF development and that CollF affects pulmonary blood flow. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  1. Berlin heart ventricular assist device as a long-term bridge to transplantation in a Fontan patient with failing single ventricle.

    Science.gov (United States)

    Halaweish, I; Ohye, R G; Si, M S

    2015-12-01

    The use of VADs as a BTT in children with heart failure has increased due to enhanced device design and reliability, leading to improved survival, functional capacity, and quality of life. However, the use of VADs in patients with Fontan physiology as a BTT is rare with few case reports. Here, we describe a case of implantation of the Berlin VAD as a BTT for 179 days, one of the longest reported periods of mechanical support, in a child with failing single ventricle. © 2015 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  2. The heart: Congenital disease

    International Nuclear Information System (INIS)

    Higgins, C.B.

    1987-01-01

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

  3. Divertículo congénito del ventrículo izquierdo en el niño:: una experiencia africana Congenital diverticulum of the left ventricle in children:: an African experience

    Directory of Open Access Journals (Sweden)

    Andrés Savío Benavides

    2010-03-01

    Full Text Available Se describe el caso de un escolar africano, de 7 años de edad, con un divertículo congénito del ventrículo izquierdo que fue exitosamente tratado mediante cirugía. Esta es una afección infrecuente, mal interpretada y potencialmente letal. Se ha descrito una amplia variedad de manifestaciones clínicas, y el diagnóstico se basa en el examen físico, los resultados radiográficos y electrocardiográficos. Estos últimos son indispensables, pues con el Doppler en color se puede observar el cortocircuito (shunt desde el ventrículo hasta la cámara diverticular, alternativamente en sístole y diástole. La angiocardiografía, la tomografía axial y sobre todo la resonancia magnética son, sin duda, elementos que contribuyen a corroborar el diagnóstico. Diferentes técnicas quirúrgicas se han empleado con éxito en la reparación de este defecto.Authors describe the case of an African schoolboy aged 7, with a congenital diverticulum of left ventricle successfully treated by surgery. This is a uncommon affection, misinterpreted and potentially lethal. Many clinical manifestations have been described and the diagnosis is based on the physical examination, radiographic and electrocardiographic results. These latter are essential since with the use of color-Doppler it is possible to note the shunt from the ventricle up to the diverticulum camera in systole and in diastole. The angiocardiography, axial tomography (AT and mainly the magnetic resonance (MR are undoubtedly, elements contributing to corroborate the diagnosis. Different surgical techniques have been successfully used in repair of this defect.

  4. Congenitally corrected transposition

    Directory of Open Access Journals (Sweden)

    Debich-Spicer Diane

    2011-05-01

    Full Text Available Abstract Congenitally corrected transposition is a rare cardiac malformation characterized by the combination of discordant atrioventricular and ventriculo-arterial connections, usually accompanied by other cardiovascular malformations. Incidence has been reported to be around 1/33,000 live births, accounting for approximately 0.05% of congenital heart malformations. Associated malformations may include interventricular communications, obstructions of the outlet from the morphologically left ventricle, and anomalies of the tricuspid valve. The clinical picture and age of onset depend on the associated malformations, with bradycardia, a single loud second heart sound and a heart murmur being the most common manifestations. In the rare cases where there are no associated malformations, congenitally corrected transposition can lead to progressive atrioventricular valvar regurgitation and failure of the systemic ventricle. The diagnosis can also be made late in life when the patient presents with complete heart block or cardiac failure. The etiology of congenitally corrected transposition is currently unknown, and with an increase in incidence among families with previous cases of congenitally corrected transposition reported. Diagnosis can be made by fetal echocardiography, but is more commonly made postnatally with a combination of clinical signs and echocardiography. The anatomical delineation can be further assessed by magnetic resonance imaging and catheterization. The differential diagnosis is centred on the assessing if the patient is presenting with isolated malformations, or as part of a spectrum. Surgical management consists of repair of the associated malformations, or redirection of the systemic and pulmonary venous return associated with an arterial switch procedure, the so-called double switch approach. Prognosis is defined by the associated malformations, and on the timing and approach to palliative surgical care.

  5. Single calibration multiplane stereo-PIV: the effect of mitral valve orientation on three-dimensional flow in a left ventricle model

    Science.gov (United States)

    Saaid, Hicham; Segers, Patrick; Novara, Matteo; Claessens, Tom; Verdonck, Pascal

    2018-03-01

    The characterization of flow patterns in the left ventricle may help the development and interpretation of flow-based parameters of cardiac function and (patho-)physiology. Yet, in vivo visualization of highly dynamic three-dimensional flow patterns in an opaque and moving chamber is a challenging task. This has been shown in several recent multidisciplinary studies where in vivo imaging methods are often complemented by in silico solutions, or by in vitro methods. Because of its distinctive features, particle image velocimetry (PIV) has been extensively used to investigate flow dynamics in the cardiovascular field. However, full volumetric PIV data in a dynamically changing geometry such as the left ventricle remain extremely scarce, which justifies the present study. An investigation of the left ventricle flow making use of a customized cardiovascular simulator is presented; a multiplane scanning-stereoscopic PIV setup is used, which allows for the measurement of independent planes across the measurement volume. Due to the accuracy in traversing the illumination and imaging systems, the present setup allows to reconstruct the flow in a 3D volume performing only one single calibration. The effects of the orientation of a prosthetic mitral valve in anatomical and anti-anatomical configurations have been investigated during the diastolic filling time. The measurement is performed in a phase-locked manner; the mean velocity components are presented together with the vorticity and turbulent kinetic energy maps. The reconstructed 3D flow structures downstream the bileaflet mitral valve are shown, which provides additional insight of the highly three-dimensional flow.

  6. Repair of isolated double-chambered right ventricle | El Kouache ...

    African Journals Online (AJOL)

    The finding of a double-chambered right ventricle (DCRV) is exceptionally rare as an isolated anomaly. It is a congenital cardiac anomaly in which the right ventricle is separated into two chambers, a proximal highpressure chamber and a distal low-pressure chamber, by anomalous muscles or fibrous tissues in the right ...

  7. Report of an adult with double-outlet right ventricle

    International Nuclear Information System (INIS)

    Munera E, Ana G; Florez C, Marina; Delgado de B, Jorge A and others

    2001-01-01

    The case of a 22 -year- old woman with a diagnosis of congenital heart disease, N Y H A class I, who complaints palpitations. By echocardiography, angiography and magnetic resonance imaging a diagnosis of double-outlet right ventricle was done. She was intervened for correction, creating an interventricular tunnel connecting the left ventricle to the aorta through the ventricular septal defect

  8. Outcomes After Decompression of the Right Ventricle in Infants With Pulmonary Atresia With Intact Ventricular Septum Are Associated With Degree of Tricuspid Regurgitation: Results From the Congenital Catheterization Research Collaborative.

    Science.gov (United States)

    Petit, Christopher J; Glatz, Andrew C; Qureshi, Athar M; Sachdeva, Ritu; Maskatia, Shiraz A; Justino, Henri; Goldberg, David J; Mozumdar, Namrita; Whiteside, Wendy; Rogers, Lindsay S; Nicholson, George T; McCracken, Courtney; Kelleman, Mike; Goldstein, Bryan H

    2017-05-01

    Outcomes after right ventricle (RV) decompression in infants with pulmonary atresia with intact ventricular septum vary widely. Descriptions of outcomes are limited to small single-center studies. Neonates undergoing RV decompression for pulmonary atresia with intact ventricular septum were included from 4 pediatric centers. Primary end point was reintervention post-RV decompression; secondary end points included circulation type at latest follow-up. Ninety-nine patients (71 with pulmonary atresia with intact ventricular septum and 28 with virtual atresia) underwent RV decompression at median 3 (25th-75th, 2-5) days of age. Seventy-one patients (72%) underwent at least 1 reintervention after decompression. Median duration of follow-up was 3 years (range, 1-10). Freedom from reintervention was 51% at 1 month and 23% at 3 years. In multivariable analysis, reintervention was associated with virtual atresia (hazard ratio [HR], 0.51; 95% confidence interval [CI], 0.28-091; P =0.027), smaller RV length (HR, 0.94; 95% CI, 0.89-0.99; P =0.027), and ≤mild tricuspid regurgitation (TR; HR, 3.58; 95% CI, 2.04-6.30; P atresia (HR, 0.36; 95% CI, 0.15-0.85; P =0.02) and more likely to have higher RV end-diastolic pressure (HR, 1.07; 95% CI, 1.00-1.15; P =0.057) and ≤mild TR (HR, 3.50; 95% CI, 1.75-7.0; P atresia with intact ventricular septum deemed suitable for RV decompression have a high reintervention burden although most achieve 2-ventricle circulation. TR ≤mild at baseline is strongly associated with reintervention and <2-ventricle circulation at medium-term follow-up. Degree of baseline TR may be an important marker of long-term outcomes in this population. © 2017 American Heart Association, Inc.

  9. [Congenital hydrocephalus].

    Science.gov (United States)

    Malagón-Valdez, J

    2006-04-10

    Congenital hydrocephalus or ventriculomegaly is a disorder that now can be diagnosed in uterus with ultrasonography, this gives the chance of being able to give a treatment the earliest as possible. The clinical manifestations are reviewed, the diagnosis, the frequent treatment and causes of congenital hydrocephalus, being the first agenesis of the Sylvius' aqueduct, followed by Arnold-Chiari's malformations with mielomeningocele. In most of the cases the peritoneal-ventricle shunt is the best surgery treatment and now, the treatment with ventriculostomy of third ventricle by endoscopy has fewer complications apparently and in several cases it is the definitive treatment. The evolution of the diagnosis with the support of specific therapies is effective and the early treatment is good, of course taking into account the etiology.

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

    Science.gov (United States)

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

    2016-12-01

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

  11. Design and rationale of a randomized trial comparing the Blalock-Taussig and right ventricle-pulmonary artery shunts in the Norwood procedure.

    Science.gov (United States)

    Ohye, Richard G; Gaynor, J William; Ghanayem, Nancy S; Goldberg, Caren S; Laussen, Peter C; Frommelt, Peter C; Newburger, Jane W; Pearson, Gail D; Tabbutt, Sarah; Wernovsky, Gil; Wruck, Lisa M; Atz, Andrew M; Colan, Steve D; Jaggers, James; McCrindle, Brian W; Prakash, Ashwin; Puchalski, Michael D; Sleeper, Lynn A; Stylianou, Mario P; Mahony, Lynn

    2008-10-01

    The initial palliative procedure for patients born with hypoplastic left heart syndrome and related single right ventricle anomalies, the Norwood procedure, remains among the highest risk procedures in congenital heart surgery. The classic Norwood procedure provides pulmonary blood flow with a modified Blalock-Taussig shunt. Improved outcomes have been reported in a few small, nonrandomized studies of a modification of the Norwood procedure that uses a right ventricle-pulmonary artery shunt to provide pulmonary blood flow. Other nonrandomized studies have shown no differences between the two techniques. The Pediatric Heart Network designed a randomized clinical trial to compare outcomes for subjects undergoing a Norwood procedure with either the right ventricle-pulmonary artery or modified Blalock-Taussig shunt. Infants with a diagnosis of single, morphologically right ventricle anomaly who are undergoing a Norwood procedure are eligible for inclusion in this study. The primary outcome is death or cardiac transplant 12 months after random assignment. Secondary outcomes include postoperative morbidity after Norwood and stage II palliation procedures, right ventricular function and pulmonary arterial growth at stage II palliation, and neurodevelopmental outcomes at 14 months old. Incidence of adverse events will also be compared between treatment groups. This study will make an important contribution to the care of patients with hypoplastic left heart syndrome and related forms of single, morphologically right ventricle. It also establishes a model with which other operative interventions for patients with congenital cardiovascular malformations can be evaluated in the future.

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

    Directory of Open Access Journals (Sweden)

    Paolo Ferrero

    2016-11-01

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

  13. Haemodynamic consequences of targeted single- and dual-site right ventricular pacing in adults with congenital heart disease undergoing surgical pulmonary valve replacement

    Science.gov (United States)

    Plymen, Carla M.; Finlay, Malcolm; Tsang, Victor; O'leary, Justin; Picaut, Nathalie; Cullen, Shay; Walker, Fiona; Deanfield, John E; Hsia, T.Y.; Bolger, Aidan P.; Lambiase, Pier D.

    2015-01-01

    Aims The purpose of this study was to create an epicardial electroanatomic map of the right ventricle (RV) and then apply post-operative-targeted single- and dual-site RV temporary pacing with measurement of haemodynamic parameters. Cardiac resynchronization therapy is an established treatment for symptomatic left ventricular (LV) dysfunction. In congenital heart disease, RV dysfunction is a common cause of morbidity—little is known regarding the potential benefits of CRT in this setting. Methods and results Sixteen adults (age = 32 ± 8 years; 6 M, 10 F) with right bundle branch block (RBBB) and repaired tetralogy of Fallot (n = 8) or corrected congenital pulmonary stenosis (n = 8) undergoing surgical pulmonary valve replacement (PVR) for pulmonary regurgitation underwent epicardial RV mapping and haemodynamic assessment of random pacing configurations including the site of latest RV activation. The pre-operative pulmonary regurgitant fraction was 49 ± 10%; mean LV end-diastolic volume (EDV) 85 ± 19 mL/min/m2 and RVEDV 183 ± 89 mL/min/m2 on cardiac magnetic resonance imaging. The mean pre-operative QRS duration is 136 ± 26 ms. The commonest site of latest activation was the RV free wall and DDD pacing here alone or combined with RV apical pacing resulted in significant increases in cardiac output (CO) vs. AAI pacing (P < 0.01 all measures). DDDRV alternative site pacing significantly improved CO by 16% vs. AAI (P = 0.018), and 8.5% vs. DDDRV apical pacing (P = 0.02). Conclusion Single-site RV pacing targeted to the region of latest activation in patients with RBBB undergoing PVR induces acute improvements in haemodynamics and supports the concept of ‘RV CRT’. Targeted pacing in such patients has therapeutic potential both post-operatively and in the long term. PMID:25371427

  14. Double-outlet right ventricle revisited.

    Science.gov (United States)

    Ebadi, Ameneh; Spicer, Diane E; Backer, Carl L; Fricker, F Jay; Anderson, Robert H

    2017-08-01

    Double-outlet right ventricle is a form of ventriculoarterial connection. The definition formulated by the International Society for Nomenclature of Paediatric and Congenital Heart Disease is based on hearts with both arterial trunks supported in their greater part by a morphologically right ventricle. Bilateral infundibula and ventricular septal defects are highly debated criteria. This study examines the anatomic controversies surrounding double-outlet right ventricle. We show that hearts with double-outlet right ventricle can have atrioventricular-to-arterial valvular continuity. We emphasize the difference between the interventricular communication and the zone of deficient ventricular septation. The hearts examined were from the University of Florida in Gainesville; Johns Hopkins All Children's Hospital, St Petersburg, Fla; and Lurie Children's Hospital, Chicago, Ill. Each specimen had at least 75% of both arterial roots supported by the morphologically right ventricle, with a total of 100 hearts examined. The morphologic method was used to assess anatomic features, including arterial-atrioventricular valvular continuity, subarterial infundibular musculature, and the location of the hole between the ventricles. Most hearts had fibrous continuity between one of the arterial valves and an atrioventricular valve, with bilateral infundibula in 23%, and intact ventricular septum in 5%. Bilateral infundibula are not a defining feature of double-outlet right ventricle, representing only 23% of the specimens in our sample. The interventricular communication can have a posteroinferior muscular rim or extend to become perimembranous (58%). Double-outlet right ventricle can exist with an intact ventricular septum. Copyright © 2017 The American Association for Thoracic Surgery. All rights reserved.

  15. Surgical cardiac denervation therapy for treatment of congenital ion channelopathies in pediatric patients: a contemporary, single institutional experience.

    Science.gov (United States)

    Costello, John P; Wilson, Jennifer K; Louis, Clauden; Peer, Syed M; Zurakowski, David; Nadler, Evan P; Qureshi, Faisal G; Jonas, Richard A; Greene, E Anne; Berul, Charles I; Moak, Jeffrey P; Nath, Dilip S

    2015-01-01

    Congenital ion channel disorders, including congenital long QT syndrome (LQTS), cause significant morbidity in pediatric patients. When medication therapy does not control symptoms or arrhythmias, more invasive treatment strategies may be necessary. This study examines our institution's clinical experience with surgical cardiac denervation therapy for management of these arrhythmogenic disorders in children. An institutional review board-approved retrospective review identified ten pediatric patients with congenital ion channelopathies who underwent surgical cardiac denervation therapy at a single institution between May 2011 and April 2014. Eight patients had a diagnosis of congenital LQTS, two patients were diagnosed with catecholaminergic polymorphic ventricular tachycardia (CPVT). All patients underwent sympathectomy and partial stellate ganglionectomy via video-assisted thoracoscopic surgery (VATS). Six of the ten patients had documented ventricular arrhythmias preoperatively, and 70% of the patients had preoperative syncope. The corrected QT interval decreased in 75% of patients with LQTS following sympathectomy. Postoperative arrhythmogenic symptoms were absent in 88% of congenital LQTS patients, but both patients with CPVT continued to have symptoms throughout the duration of follow-up. All patients were alive after a median follow-up period of 10 months. Surgical cardiac denervation therapy via VATS is a useful treatment strategy for congenital LQTS patients who fail medical management, and its potential benefit in the management of CPVT is unclear. A prospective comparison of the efficacy of surgical cardiac denervation therapy and implantable cardioverter-defibrillator use in congenital ion channelopathies is timely and crucial. © The Author(s) 2014.

  16. Congenital bronchopulmonary malformations: A single-center experience and a review of literature

    Directory of Open Access Journals (Sweden)

    Kumar Basant

    2008-01-01

    Full Text Available Purpose: To present a single-center experience with 25 cases of bronchopulmonary malformations and the review the literature. Materials and Methods: We conducted a retrospective analysis of the medical records of patients with congenital bronchopulmonary malformations who were operated between July 1997 and July 2007 in our institute; we examined the modes of presentations, management, and outcome. Outcome of all patients was assessed over a short follow-up period (average 1.8 months. Results: Out of 25 patients, 18 (72% were male and 7 (28% were female. Age of patients ranged from 1 day to 11 years. The histopathological diagnosis was congenital cystic adenomatoid malformations [CCAM; n = 14 (56%], congenital lobar emphysema [CLE; n = 5 (20%], pulmonary sequestrations [PS; n = 3 (12%], and bronchogenic cysts [BC; n = 3 (12%]. Antenatal diagnosis was available in only 2 (8% patients. The common presenting symptoms were respiratory distress and chest infections. Lobectomy was the procedure of choice . Mortality was 16% (n = 4; M: F = 3: 1. Two patients died because of overwhelming sepsis, one from compromised cardiac function, and one from aspiration which might possibly have been prevented. Conclusion: Patients with progressive respiratory distress due to these anomalies may require urgent surgical intervention regardless of age. The surgical outcome is favorable, with manageable complications. Plain x-ray chest and CT of thorax are usually sufficient for diagnosis and planning of treatment. Pathological diagnosis may differ from the imaging diagnosis. Mortality is found to be more in neonates. Apart from initial stabilization, resection of lesion and careful postoperative care is necessary to reduce mortality and morbidity.

  17. Significance of MR imaging in congenital heart disease

    International Nuclear Information System (INIS)

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

    1989-01-01

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

  18. Double Outlet Right Ventricle with Anatomical Associations of ...

    African Journals Online (AJOL)

    Background: Complex congenital cardiac abnormalities involving double outlet right ventricle (DORV) are uncommon diseases. They contribute to mortality and morbidity among children in Nigeria and the exact etiology is unknown. However, infective, genetic and environmental factors among others are commonly ...

  19. An extremely rare clinical entity: congenitally corrected transposition with situs ınversus and single coronary artery presented with complete atrioventricular block in a young man.

    Science.gov (United States)

    Cirakoglu, Omer Faruk; Bayraktar, Ali; Sayin, Muhammet Rasit

    2018-05-01

    Congenitally corrected transposition of the great arteries is a rare form of CHD. Situs inversus is a much less common variant of a congenitally corrected transposition of the great arteries. In rare cases, transposition events may be accompanied by various cardiac anomalies. However, situs inversus patients with congenitally corrected transposition, single coronary artery anomaly, and atrioventricular block together have not been reported previously. This combination of abnormalities is presented as a first in the literature.

  20. Double-outlet right ventricle with an intact interventricular septum and concurrent hypoplastic left ventricle in a calf.

    Science.gov (United States)

    Newhard, D K; Jung, S W; Winter, R L; Kuca, T; Bayne, J; Passler, T

    2017-04-01

    A 3-day-old Hereford heifer calf presented for evaluation of lethargy and dyspnea, with persistent hypoxia despite supplemental oxygen therapy. A grade III/VI right apical systolic murmur was noted during cardiac auscultation. Echocardiography revealed a double-outlet right ventricle with an intact interventricular septum and concurrent hypoplastic left ventricle and tricuspid valve dysplasia. Post-mortem examination revealed additional congenital anomalies of ductus arteriosus, patent foramen ovale, and persistent left cranial vena cava. This report illustrates the use of echocardiographic images to diagnose a double-outlet right ventricle with an intact interventricular septum and a hypoplastic left ventricle in a calf. Copyright © 2016 Elsevier B.V. All rights reserved.

  1. Congenital Deficiency of Distal Ulna and Dislocation of the Radial Head Treated by Single Bone Forearm Procedure

    Directory of Open Access Journals (Sweden)

    Paragjyoti Gogoi

    2014-01-01

    Full Text Available Congenital deficiency of part of distal ulna affecting the distal radio-ulnar joint is a rare disorder. It is even rarer to find the association of proximal radio-ulnar joint dislocation along with distal ulnar deficiency. This type of congenital forearm anomaly is difficult to treat. Conversion to a single bone forearm in the expense of pronation-supination movement is a viable option. By doing so the elbow and wrist can be stabilized; however movement is possible in only one plane. We are describing here a girl of 8 years having proximal radio-ulnar joint dislocation along with deficiency of distal ulna treated by converting into a single bone forearm.

  2. Temporary Piggyback Intraocular Lens Implantation Versus Single Intraocular Lens Implantation in Congenital Cataracts: Long-Term Clinical Outcomes.

    Science.gov (United States)

    Hwang, Sungsoon; Lim, Dong Hui; Lee, Soomin; Choi, Daye Diana; Chung, Eui-Sang; Chung, Tae-Young

    2018-04-01

    To report the long-term results of temporary piggyback IOL implantation in congenital cataract and to compare the clinical outcomes of temporary piggyback IOL with those of single IOL implantation. This is a retrospective, comparative, interventional study. The medical records of all consecutive patients who underwent cataract extraction and single or temporary piggyback IOL implantation within the first 3 years of life from 1999 to 2013 at Samsung Medical Center were reviewed. Twenty-eight eyes from 18 patients underwent single IOL implantation (monopseudophakia group), and 32 eyes of 20 patients underwent temporary piggyback IOL implantation in congenital cataract surgery (polypseudophakia group). The mean age at initial cataract surgery was 15.8 months in the monopseudophakia group and 11.1 months in the polypseudophakia group (P = 0.144). The average follow-up duration was 133 months in the monopseudophakia group and 120 months in the polypseudophakia group (P = 0.391). The best-corrected visual acuity at the last visit was 0.36 logMAR in the monopseudophakia group and 0.55 logMAR in the polypseudophakia group (P = 0.044). Four (14%) and 14 (44%) reoperations for complications within the anterior segment were performed in the monopseudophakia group and polypseudophakia group, respectively (P = 0.042). Four cases (14.3%) in the monopseudophakia group and 13 cases (40.6%) in the polypseudophakia group had a glaucoma-related adverse event (P = 0.086). Compared with primary single IOL implantation in congenital cataract, temporary piggyback IOL implantation produced worse visual acuity, higher reoperation rate, and higher risk of secondary glaucoma. Temporary piggyback IOL implantation does not have benefit in congenital cataract.

  3. Electron-beam CT diagnosis of congenital cardiovascular diverticula

    International Nuclear Information System (INIS)

    Yang Youyou; Zheng Lili; Li Xiangmin; Zhou Xuhui; Peng Qian; Meng Quanfei; Dai Ruping

    2008-01-01

    Objective: To investigate the clinical application of electron-beam CT (EBCT) in the diagnosis of congenital cardiovascular diverticula. Methods: Retrospective analysis of 9 patients with congenital cardiovascular diverticula confirmed by operation and pathology was done. Of them, enhanced continuous volume scan was performed on 8 patients and enhanced single slice scan was performed on one patient with an Imatron C-150 scanner. Results: The group of 9 patients included one patient with diverticulum of the left ventricle, 3 patients with diverticulum of the atria and 5 patients with diverticulum of the aorta. EBCT scan and three dimensional reconstruction could demonstrate not only the origin, size, shape, location and adjacent structure of diverticula, but also other important complicated abnormalities such as ventriculoarterial connection disorder, cardiac septal defect, aortic coarctation and even dissection. Conclusion: EBCT is an ideal noninvasive technique in the diagnosis of congenital cardiovascular diverticula. (authors)

  4. Lengthening of the congenital short femur using the Ilizarov technique: a single-surgeon series.

    Science.gov (United States)

    Aston, W J S; Calder, P R; Baker, D; Hartley, J; Hill, R A

    2009-07-01

    We present a retrospective review of a single-surgeon series of 30 consecutive lengthenings in 27 patients with congenital short femur using the Ilizarov technique performed between 1994 and 2005. The mean increase in length was 5.8 cm/18.65% (3.3 to 10.4, 9.7% to 48.8%), with a mean time in the frame of 223 days (75 to 363). By changing from a distal to a proximal osteotomy for lengthening, the mean range of knee movement was significantly increased from 98.1 degrees to 124.2 degrees (p = 0.041) and there was a trend towards a reduced requirement for quadricepsplasty, although this was not statistically significant (p = 0.07). The overall incidence of regenerate deformation or fracture requiring open reduction and internal fixation was similar in the distal and proximal osteotomy groups (56.7% and 53.8%, respectively). However, in the proximal osteotomy group, pre-placement of a Rush nail reduced this rate from 100% without a nail to 0% with a nail (p < 0.001). When comparing a distal osteotomy with a proximal one over a Rush nail for lengthening, there was a significant decrease in fracture rate from 58.8% to 0% (p = 0.043). We recommend that in this group of patients lengthening of the femur with an Ilizarov construct be carried out through a proximal osteotomy over a Rush nail. Lengthening should also be limited to a maximum of 6 cm during one treatment, or 20% of the original length of the femur, in order to reduce the risk of complications.

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

    Science.gov (United States)

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

    1984-11-01

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

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

    Directory of Open Access Journals (Sweden)

    Bao Bihui

    2012-08-01

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

  7. Single-dose benzathine penicillin in infants at risk of congenital ...

    African Journals Online (AJOL)

    1997-01-01

    Jan 1, 1997 ... benzathine penicillin G in infants at high risk of congenital syphilis. Design. Randomised study comparing benzathine penicillin with no therapy. Setting. Peninsula Maternal and Neonatal Service, Cape. Town. Subjects. Asymptomatic infants born to mothers with untreated syphilis whose VORl titre was 32 ...

  8. Clinical and histological responses of congenital melanocytic nevi after single treatment with Q-switched lasers

    NARCIS (Netherlands)

    Grevelink, JM; vanLeeuwen, RL; Anderson, RR; Byers, HR

    Background: Laser irradiation of congenital melanocytic nevi is a controversial treatment. Recurrence of lesions after laser treatment appears to be the rule, and the effects of laser irradiation on cellular biological behavior and the possible mutagenic responses of nevomelanocytes that have

  9. Radionuclide diagnostics of right ventricle; Diagnostyka radioizotopowa prawej komory serca

    Energy Technology Data Exchange (ETDEWEB)

    Zaorska-Rajca, J.

    1993-12-31

    Difficulties in evaluating the right ventricle function motivate to making research into new non-invasive methods. Four radionuclide methods that are used to access the right ventricle have been discussed in this paper: first-pass angiocardiography, gated equilibrium ventriculography with red blood cells labelled in vivo technetium-{sup 99}Tc, ventriculography with radioactive xenon 133 and a computerized single probe. Advantages and disadvantages of using each method have been discussed. RNV {sup 99m}Tc method has been recognized as the best one to evaluate RV function. Results of the right ventricle assessment in patients have been discussed in the following clinical groups: chronic cor pulmonale (CP), chronic lung disease without pulmonary arterial hypertension (LD), coronary artery disease (CAD), in patients after infarction (IMA and IMi), dilated cardiomyopathy (KZ) and valvular heart diseases (Wm and Wa). Abnormals in right ventricle function occur with different intensity in all groups, although they no specificity. The highest abnormality occurs in patients with KZ, CP, IMi and Wm, the lowest one - in patients with CAD. Abnormalities are higher in patients with congestive heart failure. In most pathological groups the right ventricle dysfunction is connected with the left ventricle insufficiency. The interdependence between the dysfunction of both ventricles is differs in particular diseases. Assessment of right ventricle function with radionuclide methods plays an important role in diagnosis and control therapy of cardiopulmonary diseases. (author). 385 refs, 48 figs, 6 tabs.

  10. Fitness of Toxoplasma gondii is not related to DHFR single-nucleotide polymorphism during congenital toxoplasmosis.

    Science.gov (United States)

    Peyron, François; Eudes, Nathalie; de Monbrison, Frédérique; Wallon, Martine; Picot, Stéphane

    2004-09-01

    Factors that regulate the pathogenesis of Toxoplasma gondii in humans are poorly understood. When acquired during pregnancy, toxoplasmosis can be disastrous, leading to fetal loss or conversely to subclinical disease. In congenitally infected infants, evolution is highly unpredictable. Genotype based virulence patterns have been described in mice, but in humans this classification does not correlate with the gravity of the disease. Mutations on DHFR-TS loci have recently been reported to confer T. gondii fitness cost. In this study, we investigated the relationship between the virulence of the parasite, as measured by clinical outcome in the fetus or newborn, fitness, as measured by parasitic load in amniotic fluid, and allelic polymorphism in DHFR. Six cases of severe congenital toxoplasmosis and 23 cases of mild congenital infections were included in the study. Quantitative PCR was performed to evaluate total T. gondii DNA load in amniotic fluid and detection of mutations was carried out with a LightCycler using hybridisation probes. Parasitic load was significantly higher in severe infections than in mild diseases. Among isolates from severe or non-severe cases of congenital toxoplasmosis, no polymorphism could be detected at loci 36, 83 or 245 of the DHFR gene. The virulent RH strain presented the same melting temperature as the non-virulent PRU strain for codons 36, 83 and 245. Only mutated clones, M2M3 and M2M4 with allelic replacement at these positions, displayed different profiles allowing a clear distinction between wild and mutant types. We concluded that the DHFR gene mutations we investigated do not regulate T. gondii fitness in humans.

  11. Pure laparoscopic and robot-assisted laparoscopic reconstructive surgery in congenital megaureter: a single institution experience.

    Science.gov (United States)

    Fu, Weijun; Zhang, Xu; Zhang, Xiaoyi; Zhang, Peng; Gao, Jiangping; Dong, Jun; Chen, Guangfu; Xu, Axiang; Ma, Xin; Li, Hongzhao; Shi, Lixin

    2014-01-01

    To report our experience of pure laparoscopic and robot-assisted laparoscopic reconstructive surgery in congenital megaureter, seven patients (one bilateral) with symptomatic congenital megaureter underwent pure laparoscopic or robot-assisted laparoscopic surgery. The megaureter was exposed at the level of the blood vessel and was isolated to the bladder narrow area. Extreme ureter trim and submucosal tunnel encapsulation or papillary implantations and anti-reflux ureter bladder anastomosis were performed intraperitoneally by pure laparoscopic or robot-assisted laparoscopic surgery. The clinical data of seven patients after operation were analyzed, including the operation time, intraoperative complications, intraoperative bleeding volumes, postoperative complications, postoperative hospitalization time and pathological results. All of the patients were followed. The operation was successfully performed in seven patients. The mean operation times for pure laparoscopic surgery and robotic-assistant laparoscopic surgery were 175 (range: 150-220) and 187 (range: 170-205) min, respectively, and the mean operative blood loss volumes were 20 (range: 10-30) and 28.75 (range: 15-20) ml, respectively. There were no intraoperative complications. The postoperative drainage time was 5 (range: 4-6) and 5.75 (range: 5-6) d, respectively, and the indwelling catheter time was 6.33 (range: 4-8) d and 7 (range: 7-7) d, respectively. The postoperative hospitalization time was 7.67 (range: 7-8) d and 8 (range: 7-10) d, respectively. There was no obvious pain, no secondary bleeding and no urine leakage after the operation. Postoperative pathology reports revealed chronic urothelial mucosa inflammation. The follow-up results confirmed that all patients were relieved of their symptoms. Both pure laparoscopic and robot-assisted laparoscopic surgery using different anti-reflux ureter bladder anastomoses are safe and effective approaches in the minimally invasive treatment of congenital

  12. Macular hemorrhage after roller coaster riding in a single-eyed patient with congenital glaucoma

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    Dilek Guven

    Full Text Available ABSTRACT A 21-year-old female presented with a 4-day history of decreased vision in her only functional eye (right eye, OD. She had a history of multiple ocular surgeries in both eyes because of congenital glaucoma and had lost light perception in her left eye several years prior. Ophthalmological examination revealed 0.15 Snellen visual acuity, and fundoscopy revealed nearly total cupping and pallor of the optic disc and multiple retinal hemorrhagic foci in the macula in OD. Lesions spontaneously resolved over a few months. Gravitational forces during a roller coaster ride may have caused this macular hemorrhage.

  13. Implantable cardioverter defibrillator therapy in pediatric and congenital heart disease patients: a single tertiary center experience in Korea

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    Bo Kyung Jin

    2013-03-01

    Full Text Available Purpose: The use of implantable cardioverter defibrillators (ICDs to prevent sudden cardiac death is increasing in children and adolescents. This study investigated the use of ICDs in children with congenital heart disease. Methods: This retrospective study was conducted on the clinical characteristics and effectiveness of ICD implantation at the department of pediatrics of a single tertiary center between 2007 and 2011. Results: Fifteen patients underwent ICD implantation. Their mean age at the time of implantation was 14.5±5.4 years (range, 2 to 22 years. The follow-up duration was 28.9±20.4 months. The cause of ICD implantation was cardiac arrest in 7, sustained ventricular tachycardia in 6, and syncope in 2 patients. The underlying disorders were as follows: ionic channelopathy in 6 patients (long QT type 3 in 4, catecholaminergic polymorphic ventricular tachycardia [CPVT] in 1, and J wave syndrome in 1, cardiomyopathy in 5 patients, and postoperative congenital heart disease in 4 patients. ICD coils were implanted in the pericardial space in 2 children (ages 2 and 6 years. Five patients received appropriate ICD shock therapy, and 2 patients received inappropriate shocks due to supraventricular tachycardia.During follow-up, 2 patients required lead dysfunction-related revision. One patient with CPVT suffered from an ICD storm that was resolved using sympathetic denervation surgery. Conclusion: The overall ICD outcome was acceptable in most pediatric patients. Early diagnosis and timely ICD implantation are recommended for preventing sudden death in high-risk children and patients with congenital heart disease.

  14. Prenatal and postnatal management of congenital bronchial atresia (CBA): single tertiary center report.

    Science.gov (United States)

    Yu, Gang; Xia, Bo; Wang, Zhu; Huang, Baisha; Zhang, Ying; Hong, Chun; Shang, Ning; Tang, Jing

    2017-08-01

    To summarize our diagnosis and management experience of congenital bronchial atresia (CBA). A retrospective review was conducted, clinical data were collected of all patients with CBA. Among the nine patients (5 males and 4 females), six cases with right side and three cases with left cases, including one patient with mainstem bronchial atresia (MBA), two cases with lobar bronchial atresia (LBA), six cases with segmental bronchial atresia (SBA). Eight were diagnosed as congenital cystic adenomatoid malformation (CCAM) type III by ultrasound (US) in prenatal. The MBA patient was diagnosed by computed tomography (CT) and bronchofibroscopy, only two patients by pathological findings and the other six patients by CT. Five cases were accompanied by CCAM, one case with bronchopulmonary sequestration (BPS), two cases with emphysema. Eight cases except MBA were underwent thoracoscopic surgery treatment and had favorable prognosis. Two cases with LBA merged with complication of pectus excavatum after surgery. One case with MBA had no surgery and died in the 13 days old. CBA is an easily misdiagnosed disease from pathologic conditions, definitive diagnosis of this condition depends on combination CT or clinical pathologic diagnosis. Thoracoscopic resection is a safe and feasible treatment of CBA in experienced hands.

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

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

    2015-01-01

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

  16. In vivo validation of a 3D ultrasound system for imaging the lateral ventricles of neonates

    Science.gov (United States)

    Kishimoto, J.; Fenster, A.; Chen, N.; Lee, D.; de Ribaupierre, S.

    2014-03-01

    Dilated lateral ventricles in neonates can be due to many different causes, such as brain loss, or congenital malformation; however, the main cause is hydrocephalus, which is the accumulation of fluid within the ventricular system. Hydrocephalus can raise intracranial pressure resulting in secondary brain damage, and up to 25% of patients with severely enlarged ventricles have epilepsy in later life. Ventricle enlargement is clinically monitored using 2D US through the fontanels. The sensitivity of 2D US to dilation is poor because it cannot provide accurate measurements of irregular volumes such as the ventricles, so most clinical evaluations are of a qualitative nature. We developed a 3D US system to image the cerebral ventricles of neonates within the confines of incubators that can be easily translated to more open environments. Ventricle volumes can be segmented from these images giving a quantitative volumetric measurement of ventricle enlargement without moving the patient into an imaging facility. In this paper, we report on in vivo validation studies: 1) comparing 3D US ventricle volumes before and after clinically necessary interventions removing CSF, and 2) comparing 3D US ventricle volumes to those from MRI. Post-intervention ventricle volumes were less than pre-intervention measurements for all patients and all interventions. We found high correlations (R = 0.97) between the difference in ventricle volume and the reported removed CSF with the slope not significantly different than 1 (p < 0.05). Comparisons between ventricle volumes from 3D US and MR images taken 4 (±3.8) days of each other did not show significant difference (p=0.44) between 3D US and MRI through paired t-test.

  17. Results of single-staged rotational osteotomy in a child with congenital proximal radioulnar synostosis: subjective and objective evaluation.

    Science.gov (United States)

    Shingade, Viraj U; Shingade, Rashmi V; Ughade, Suresh N

    2014-01-01

    For congenital proximal radioulnar synostosis, both conservative and operative treatments have been described. Most of the studies describing surgical interventions are based on subjective evaluation of the forearm function and have used severe degree of forearm pronation as an indication for surgery. This study describes a single-staged rotational osteotomy of the proximal third ulna and distal third radius. The aim of the study was to assess the utility of the described surgical procedure by subjective and objective evaluations of the forearm function. Forty-eight children with congenital proximal radioulnar synostosis were evaluated by subjective and objective assessments and were followed up prospectively. Subjective evaluation consisted of a set of 12 questions regarding the basic activities of life. Objective evaluation was made using the Jebsen-Taylor hand-function test and a classification system used by Failla and colleagues for 15 tasks described by Morrey and colleagues. Eleven children were treated conservatively. Thirty-six children underwent a single-staged rotational osteotomy of the proximal third ulna and distal third radius. After surgery, the evaluations were repeated. The mean age at surgery was 8.6±3.7 years, and the mean postoperative follow-up period was 54±13 months. All operated forearms showed a statistically significant improvement in functioning after surgery as per the subjective and objective evaluations. The mean time taken to carry out all activities before surgery was 47.7+10.0 seconds, which significantly reduced to 33.3+6.6 seconds after surgery (P=0.0001) as per the results of the Jebsen-Taylor hand-function test. All good (n=19) and fair (n=11) results were converted to excellent (n=30) after surgery as per the modified Failla classification. There were no neurovascular injuries as compared with other published techniques. Only 1 child had delayed union, and 1 had persistent dorsal angulation at the radial osteotomy site. For

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

    OpenAIRE

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

    2017-01-01

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

  19. Congenital diaphragmatic hernia: A 4-year experience in a single centre

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    Ozdogan Tutku

    2010-01-01

    Full Text Available Background: This study aimed to evaluate congenital diaphragmatic hernia (CDH patients in our department during a 4-year period. Patients and Methods: A retrospective study of 10 cases of CDH patients managed in the Neonatology and Pediatric Surgery Units of Goztepe Teaching Hospital from 2000 to 2004. Results: The mean birth weight of the patients was 2,600 g and the mean gestational age was 37.6 weeks. The mean admission time for the patients was 10.4 h. The mortality rate was 50%, comprising two deaths before operation and one during operation. The surviving infants followed for 1 year are free of any symptoms and complications. Conclusion: Conventional ventilation is an other treatment modality, especially in order to gain time before surgical operation for newborns with CDH.

  20. Retrospective Evaluation of Children with Congenital Pulmonary Airway Malformation: A Single Center Experience of 20 Years.

    Science.gov (United States)

    Ortac, Ragip; Diniz, Gulden; Yildirim, Hulya Tosun; Aktas, Safiye; Karaca, Irfan

    2016-01-01

    Congenital pulmonary airway malformation (CPAM) is an uncommon congenital abnormality of the lungs that generally presents during prenatal period or early childhood. In this study, we aimed to evaluate clinical and pathologic findings of the children with CPAMs who were referred to our center between 1992 and 2011. We reviewed 19 children with CPAM, who were diagnosed and treated at the Izmir Dr. Behçet Uz Children's Hospital between 1992 and 2011. All of them are alive and have been still followed up by our center. The study population consisted of 9 boys (47.4%) and 10 girls (52.6%) with a mean age of 3.26 (1 month - 13 years). Most newborns had respiratory distress, while recurrent pulmonary infections were detected in older children. Surgical treatment was performed on patients with subtypes I (n = 4; 21.1%), II (n = 8; 42.1%), III (n = 5; 26.3%), and IV (n = 2; 10.5%). In 13 cases (63.4%), lesions were located in the right lung and in almost all cases lesions were confined to one lobe. A one-month- old child with type I CPAM had multiple lesions involving two lobes and in only a newborn with type II CPAM, lesions were located bilaterally. There was no type 0 cases in this series. All cases were treated with lobectomy without any complication. In the present study, a realistic comprehensive picture of CPAM in a central children's hospital has been provided. In addition, we want to emphasize that complications and unnecessary medical treatment could be reduced with early surgery.

  1. Congenital pulmonary airway malformation and sequestration: Two standpoints for a single condition

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    Lucile Fievet

    2015-01-01

    Full Text Available In adults, congenital pulmonary malformations are candidates for surgery due to symptoms. A pre-natal diagnosis is simple and effective, and allows an early thoracoscopic surgical treatment. A retrospective study was performed to assess management in two different populations of adults and children to define the best strategy. Subjects and Methods: Pulmonary malformations followed at the University Hospital from 2000 to 2012 were reviewed. Clinical history, malformation site, duration of hospitalisation, complications and pathology examinations were collected. Results: A total of 52 cases (33 children, 19 adults were identified. In children, 28 asymptomatic cases were diagnosed pre-natally and 5 during the neonatal period due to infections. Surgery was performed on the children between the ages of 2 and 6 months. Nineteen adults underwent surgery, 16 because of symptoms and 3 adults for anomalies mimicking tumours. The mean age within the adult group was 42.5 years. In children, there was one thoracotomy and 32 thoracoscopies, with 7 conversions for difficult exposure, dissection of vascular pedicles, bleeding or bronchial injury. In the adults, there were 15 thoracotomies and 4 thoracoscopies, with one conversion. Post-operative complications in the adults were twice as frequent than in children. The mean time of the children′s hospitalisation was 7.75 days versus 7.16 days for the adults. Pathological examinations showed in the children: 7 sequestrations, 18 congenital cystic pulmonary malformations (CPAM, 8 CPAM associated sequestrations; in adults: 16 sequestrations, 3 intra-pulmonary cysts. Conclusion: Early thoracoscopic surgery allows pulmonary parenchyma conservation with pulmonary development, reduces respiratory and infectious complications, eliminates a false positive cancer diagnosis later in life and decreases risks of thoracic parietal deformation.

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

    Science.gov (United States)

    Freire, Grace; Miller, Michelle S

    2015-12-01

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

  3. Comparison of a multi-breath-hold and a single breath-hold cine imaging approach for 4D guide-point modeling of the left ventricle

    International Nuclear Information System (INIS)

    Heilmaier, C.; Schlosser, T.; Nassenstein, K.; Bruder, O.

    2010-01-01

    Purpose: Guide-point modeling (GPM) enables reliable and time-efficient assessment of left ventricular (LV) volumes when using sequences that allow acquisition of short- and long-axis scans within a single breath-hold. Slice misalignment may influence GPM analysis of standard multi-breath-hold images due to image acquisition in different breath-holds. Thus, our study aimed to assess if such an approach allows for reliable volumetric calculations in the clinical routine. Materials and Methods: 52 patients were examined on a 1.5 T scanner with multi-breath-hold acquisitions on the standard short- and long-axis using an SSFP (TR 3 ms, TE 1.5 ms, FA 60 ) sequence and a TPAT accelerated SSFP (TR 4.6 msec, TE 1.1msec, FA 60 , acceleration factor 3) sequence that covered the LV in 3 short- and 2 long-axis slices within a single breath-hold. For both datasets GPM was used to assess LV volumes. In addition, LV parameters were calculated by applying the summation of slices (SoS) approach (standard of reference) with the short-axis views of the multi-breath-hold dataset. Results: The post-processing times were shorter with both GPM approaches (both, p 0.97). Conclusion: Cine short- and long-axis images that had been acquired in different breath-holds can be reliably evaluated by the GPM approach. (orig.)

  4. Clinical profile and management options of children with congenital esophageal stenosis: A single center experience

    Directory of Open Access Journals (Sweden)

    Jujju Jacob Kurian

    2016-01-01

    Full Text Available Aim: The aim of the study is to review 7 patients with congenital esophageal stenosis treated in our institution from a diagnostic and therapeutic point of view. Materials and Methods: This is a retrospective cohort study of 7 patients treated in Christian Medical College, Vellore from 2008 to 2014. The data were analyzed with regards to age at onset of symptoms, investigative findings, age at definitive treatment, pathology, modalities of treatment, and outcomes. Results: Symptoms started within the 1 st year of life in all children with a median age of 4 months. The time of delay in diagnosis ranged from 8 months to 81 months with a mean period of 37 months. About 6 patients had a lower esophageal stenosis and 1 patient had a mid-esophageal stenosis. About 4 of the 7 children underwent endoscopic balloon dilatation from elsewhere, with 2 of the above 4 undergoing a myotomy for a wrongly diagnosed achalasia. The number of dilatations ranged from 2 to 7 with a mean of 4 dilatations. Resection of the stenotic segment with end to end anastomosis was employed in 6 of the 7 patients, and a transverse colon interpositioning was done in 1 patient. An antireflux procedure was performed in one patient. Histopathological examination of the resected specimen revealed tracheobronchial remnant in 3 patients, fibromuscular thickening in 3 patients, and membranous web in 1 patient. Postoperatively, 2 of the 7 patients had asymptomatic gastroesophageal reflux and 1 patient had postoperative stricture requiring one session of endoscopic balloon dilatation. The mean follow-up period was 42 months (range 18-72 months. At the time of the last follow-up, all 7 patients were able to eat solid food, and none of the children were found to have symptoms suggestive of obstruction or gastroesophageal reflux. There was a statistically significant increase in the weight for age after the operation. Conclusion: Congenital esophageal stenosis is rare and often confused with

  5. Nutrition in neonatal congenital heart disease

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    Morgan CT

    2013-09-01

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

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

    Science.gov (United States)

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

    2015-01-01

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

  7. Perioperative echocardiography-derived right ventricle function parameters and early outcomes after tetralogy of Fallot repair in mid-childhood: a single-center, prospective observational study.

    Science.gov (United States)

    Raj, Ravi; Puri, Goverdhan Dutt; Jayant, Aveek; Thingnam, Shyam Kumar Singh; Singh, Rana Sandip; Rohit, Manoj Kumar

    2016-11-01

    Right ventricular (RV) function alterations are invariably present in all patients after tetralogy of Fallot (TOF) repair. Unlike the developed world where most of the patients with TOF are corrected in infancy, average age of presentation and thus surgery for these patients in the developing world may be higher. We aimed to study the correlation between RV function parameters such as tricuspid annular peak systolic excursion (TAPSE), fractional area change (FAC), and tricuspid annular peak systolic velocity (S') with early outcome variables after intracardiac repair for TOF. Fifty patients with a preoperative diagnosis of tetralogy of Fallot scheduled for corrective surgery were included in this single-center, prospective observational study. A preoperative transthoracic echocardiogram was performed to measure RV function parameters (FAC0, TAPSE0, S'0). Transthoracic echocardiography was repeated postoperatively to measure FAC1, TAPSE1, S'1 (day 1) and FAC2, TAPSE2, and S'2 (day 3). The relationship between preoperative and postoperative RV function parameters with in-hospital mortality, duration of mechanical ventilation, and intensive care unit stay was studied. The median age of patients was 6 years (range 1-14 years). Multiple stepwise logistic regression analysis showed RV FAC as best predictor of clinical outcome. Area under the receiver operating characteristic curve for postoperative RV function parameters, that is, FAC, TAPSE, and S' to predict early or delayed recovery was 0.944, 0.875, and 0.655, respectively. Among the RV function parameters studied, RV FAC best predicted the early outcome variables after TOF repair, followed by TAPSE while lateral tricuspid annular velocity S' being the least predictive. © 2016, Wiley Periodicals, Inc.

  8. Two-chambered right ventricle resulting from aberrant muscle bundles: a case report

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    Lim, T. H.; Ko, K. H.; Im, C. K.; Han, M. C.; Chi, J. G [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1979-12-15

    The 'Two-chambered right ventricle' is a rare, but unique congenital cardiac anomaly characterized by subdivision of the right ventricle into proximal high pressure chamber and distal low pressure chamber by hypertrophied aberrant muscle bundles. The aberrant muscle bundles traverse the right ventricle from the region of crista supraventricular is to the lower part of the anterior wall of the right ventricle. The ' Two-chambered right ventricle' is usually associated with other congenital cardiac anomalies such as ventricular septal defect, pulmonary valvular stenosis, etc. Therefore this anomaly could be mistakenly diagnosed as Tetralogy of Fallot or isolated interventricular septal defect. The need to separate this entity from other types of infundibular stenosis is emphasized because of the important surgical implications. Authors recently experienced a case of the {sup T}wo-chambered right ventricle' resulting from aberrant muscle bundles, that are associated with other cardiac anomalies i.e., pulmonary valvular stenosis, aysplastic tricuspid valve with regurgitation and partial anomalous pulmonary venous return to the right atrium. Here we present the findings of E.K.G., cardiac catheterization, simple chest pa, cine-right ventriculography, and autopsy together with a review of related articles.

  9. Two-chambered right ventricle resulting from aberrant muscle bundles: a case report

    International Nuclear Information System (INIS)

    Lim, T. H.; Ko, K. H.; Im, C. K.; Han, M. C.; Chi, J. G

    1979-01-01

    The 'Two-chambered right ventricle' is a rare, but unique congenital cardiac anomaly characterized by subdivision of the right ventricle into proximal high pressure chamber and distal low pressure chamber by hypertrophied aberrant muscle bundles. The aberrant muscle bundles traverse the right ventricle from the region of crista supraventricular is to the lower part of the anterior wall of the right ventricle. The ' Two-chambered right ventricle' is usually associated with other congenital cardiac anomalies such as ventricular septal defect, pulmonary valvular stenosis, etc. Therefore this anomaly could be mistakenly diagnosed as Tetralogy of Fallot or isolated interventricular septal defect. The need to separate this entity from other types of infundibular stenosis is emphasized because of the important surgical implications. Authors recently experienced a case of the T wo-chambered right ventricle' resulting from aberrant muscle bundles, that are associated with other cardiac anomalies i.e., pulmonary valvular stenosis, aysplastic tricuspid valve with regurgitation and partial anomalous pulmonary venous return to the right atrium. Here we present the findings of E.K.G., cardiac catheterization, simple chest pa, cine-right ventriculography, and autopsy together with a review of related articles.

  10. Absent right coronary artery: A case of single coronary artery or congenital ostial atresia?

    Science.gov (United States)

    Gupta, Mohit D; Girish, M P; Vignesh, Vickram; Narang, Poonam; Trehan, Vijay; Tyagi, Sanjay

    2015-12-01

    Atresia of the right coronary artery ostium is a rare anatomic variant of the coronary circulation. It is often difficult to differentiate from single coronary artery. Its presence unassociated with any other anomaly has never been described in an adult individual. We report this unusual anomaly and discuss its anatomical and pathophysiological significance and possible ways to differentiate from single coronary artery. Copyright © 2015 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.

  11. Right Ventricle-dependent Coronary Circulation in Pulmonary Atresia with Intact Ventricular Septum: A Case Report

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    Meng-Hsun Lee

    2005-05-01

    Full Text Available Pulmonary atresia with intact ventricular septum (PAIVS is a morphologically heterogeneous lesion and accounts for 1-3% of critically ill infants with congenital heart disease. Numerous surgical approaches have been attempted with varying degrees of success, but the mortality rate is still high in most series. The optimal surgical procedure depends on the size and morphology of the tricuspid valve and right ventricle and the presence or absence of right ventricle-dependent coronary circulation. Therefore, it is pivotal to define the precise morphologic and hemodynamic characteristics, especially coronary artery anatomy. In this report, we describe a full-term female neonate with cyanosis soon after birth. Two-dimensional and color Doppler echocardiography corroborated the diagnosis of PAIVS and showed a small right ventricle. Cardiac catheterization indicated PAIVS and further revealed right ventricle-dependent coronary circulation. A systemic-to-pulmonary artery shunt was constructed with a positive immediate result.

  12. Myxoma of the Left Ventricle

    Science.gov (United States)

    Novoa, José; Delgado, Antonio; Alonso, Ana

    2014-01-01

    This report concerns a 69-year-old woman who presented with an asymptomatic myxoma in the left ventricle. The tumor was successfully excised. We provide a very brief review of 72 other published cases of surgically treated left ventricular myxoma. PMID:25120392

  13. CT demonstration of a 5th ventricle - a finding to KO boxers?

    International Nuclear Information System (INIS)

    Macpherson, P.; Teasdale, E.

    1988-01-01

    The reported prevalence of 5th ventricles based on air studies varies from 1-12% and ranges up to 60% as an autopsy finding. The prevalence of what is usually an incidental anomaly has not been determined by computed tomography (CT). 5th ventricles are however known to be more common in brain damaged boxers and with the introduction of compulsory CT scanning for certain boxers it is necessary to know what significance to attach to the finding of a cavum in these individuals. To ascertain the prevalence and morphology of 5th ventricles as detected by CT in the population, a thousand consecutive scans were analysed for the presence or absence of a 5th ventricle and other associated midline developmental abnormalities and correlations made with any pathology found. A 5th ventricle was present in 5.5% of the group and in most cases was less than 3 mm wide. An apparent association with other pathology was found only in patients under the age of 15. A 6th ventricle was found in 0.5% while a cavum velum interpositum was present in 9.5%. The isolated finding of a small 5th ventricle on the CT scan of a young active boxer almost certainly represents a persistent congenital anomaly of no significance. (orig.)

  14. The therapeutic characteristics of serial casting on congenital scoliosis: a comparison with non-congenital cases from a single-center experience.

    Science.gov (United States)

    Cao, Jun; Zhang, Xue-Jun; Sun, Ning; Sun, Lin; Guo, Dong; Qi, Xin-Yu; Bai, Yun-Song; Sun, Bao-Sheng

    2017-04-04

    The therapeutic efficacy of serial casting on idiopathic scoliosis has been gradually documented. However, literatures on serial casting for congenital scoliosis (CS) remain extremely rare. This paper aimed to compare the treatment outcomes of serial casting between CS and non-CS patients to comprehensively evaluate the therapeutic characteristics of serial casting on CS patients. A total of 23 early-onset scoliosis cases were included and divided into congenital scoliosis (CS, n = 8) and non-congenital group (non-CS, n = 15). Therapeutic outcomes including the major curve Cobb angle, thoracic kyphosis angle, lumbar lodosis angle, and thoracic spine growing rate were compared between groups at precast, after the first cast, and at the latest follow-up, respectively. All patients received the first cast at the age of 3.25 ± 1.20 years and 5.70 ± 1.18 times of cast corrections. The average casting time was 17.17 ± 3.38 months, and the mean follow-up time was 23.91 ± 12.28 months. Both CS and non-CS groups had significant decrease in Cobb angle after the first cast and at the latest follow-up (all P < 0.05). Cobb angle was significantly lower in non-CS group than in CS group at both time points (all P < 0.01). The correction rate of Cobb angle was significantly higher in non-CS group than in CS group (around 50 vs. 20%, both P < 0.01). The mean thoracic growth rate was significantly lower in CS group than in non-CS group (0.72 ± 0.20 vs. 1.42 ± 0.22 cm/year, P < 0.001). At the latest follow-up, there are 2 cases receiving growing rod surgery, 8 cases wearing a brace, and 13 cases continuing serial casting. Although the therapeutic efficacy of casting on CS patients is not as good as that on non-CS patients, casting is still an efficient treatment option for CS patients to delay the need for initial surgery.

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

    Science.gov (United States)

    Costello, John P; Weiderhold, Allison; Louis, Clauden; Shaughnessy, Conner; Peer, Syed M; Zurakowski, David; Jonas, Richard A; Nath, Dilip S

    2015-06-01

    The objective of this study was to examine a large institutional experience of patients with trisomy 13 and trisomy 18 in the setting of comorbid congenital heart disease and present the outcomes of surgical versus expectant management. It is a retrospective single-institution cohort study. Institutional review board approved this study. Thirteen consecutive trisomy 18 patients and three consecutive trisomy 13 patients (sixteen patients in total) with comorbid congenital heart disease who were evaluated by our institution's Division of Cardiovascular Surgery between January 2008 and December 2013 were included in the study. The primary outcome measures evaluated were operative mortality (for patients who received surgical management), overall mortality (for patients who received expectant management), and total length of survival during follow-up. Of the thirteen trisomy 18 patients, seven underwent surgical management and six received expectant management. With surgical management, operative mortality was 29 %, and 80 % of patients were alive after a median follow-up of 116 days. With expectant management, 50 % of patients died before hospital discharge. Of the three patients with trisomy 13, one patient underwent surgical management and two received expectant management. The patient who received surgical management with complete repair was alive at last follow-up over 2 years after surgery; both patients managed expectantly died before hospital discharge. Trisomy 13 and trisomy 18 patients with comorbid congenital heart disease can undergo successful cardiac surgical intervention. In this population, we advocate that nearly all patients with cardiovascular indications for operative congenital heart disease intervention should be offered complete surgical repair over palliative approaches for moderately complex congenital cardiac anomalies.

  16. Clinico-morphological correlations in the categorization of holes between the ventricles

    Directory of Open Access Journals (Sweden)

    Friedman Brad

    2010-01-01

    Full Text Available Controversy still exists in the categorization of holes between the ventricles, although they are the most common congenital cardiac malformation. Advanced imaging techniques such as three-dimensional echocardiography and computed tomographic angiography offer superb anatomical details of these defects. In this review, we have sought to collate the features highlighted in different categorizations and identify their similarities, but also emphasize their differences. We hope that an analysis of this type, now achievable during life, using advanced imaging, might lead to the appearance of a unified system for diagnosis and description of holes between the ventricles.

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

    Science.gov (United States)

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

    2016-01-01

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

  18. Predicting mortality after congenital heart surgeries: evaluation of the Aristotle and Risk Adjustement in Congenital Heart Surgery-1 risk prediction scoring systems: a retrospective single center analysis of 1150 patients.

    Science.gov (United States)

    Joshi, Shreedhar S; Anthony, G; Manasa, D; Ashwini, T; Jagadeesh, A M; Borde, Deepak P; Bhat, Seetharam; Manjunath, C N

    2014-01-01

    To validate Aristotle basic complexity and Aristotle comprehensive complexity (ABC and ACC) and risk adjustment in congenital heart surgery-1 (RACHS-1) prediction models for in hospital mortality after surgery for congenital heart disease in a single surgical unit. Patients younger than 18 years, who had undergone surgery for congenital heart diseases from July 2007 to July 2013 were enrolled. Scoring for ABC and ACC scoring and assigning to RACHS-1 categories were done retrospectively from retrieved case files. Discriminative power of scoring systems was assessed with area under curve (AUC) of receiver operating curves (ROC). Calibration (test for goodness of fit of the model) was measured with Hosmer-Lemeshow modification of χ2 test. Net reclassification improvement (NRI) and integrated discrimination improvement (IDI) were applied to assess reclassification. A total of 1150 cases were assessed with an all-cause in-hospital mortality rate of 7.91%. When modeled for multivariate regression analysis, the ABC (χ2 = 8.24, P = 0.08), ACC (χ2 = 4.17 , P = 0.57) and RACHS-1 (χ2 = 2.13 , P = 0.14) scores showed good overall performance. The AUC was 0.677 with 95% confidence interval (CI) of 0.61-0.73 for ABC score, 0.704 (95% CI: 0.64-0.76) for ACC score and for RACHS-1 it was 0.607 (95%CI: 0.55-0.66). ACC had an improved predictability in comparison to RACHS-1 and ABC on analysis with NRI and IDI. ACC predicted mortality better than ABC and RCAHS-1 models. A national database will help in developing predictive models unique to our populations, till then, ACC scoring model can be used to analyze individual performances and compare with other institutes.

  19. Double chambered right ventricle with severe calcification of the tricuspid valve in an elderly woman: a case report

    Directory of Open Access Journals (Sweden)

    Murakami Yoshimasa

    2011-05-01

    Full Text Available Abstract Introduction Double chambered right ventricle is a rare congenital cardiac anomaly in which the right ventricle is divided into two chambers by an anomalous muscle bundle. The diagnosis of this disorder is difficult in adults. Calcification of the tricuspid valve is extremely rare, and very few cases have been reported. Most cases of tricuspid valve calcification had a congenital disorder with high pressure in the right ventricle. Case presentation We report a rare case of a 71-year-old Japanese woman who presented with chest discomfort, and was found to have a double chambered right ventricle with severe calcification of the tricuspid valve. This abnormality was found by echocardiography, and the diagnosis was confirmed by multislice cardiac computerized tomography, cardiac magnetic resonance imaging, and cardiac catheterization. Our patient rejected surgical repair, and medical therapy with carvedilol was effective to reduce her symptoms. Conclusion Calcification of the tricuspid valve is extremely rare, and considered to be due to high pressure in the right ventricle. To the best of our knowledge, there are no other reported cases of this combination of double chambered right ventricle and calcification of the tricuspid valve.

  20. Congenital toxoplasmosis

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001360.htm Congenital toxoplasmosis To use the sharing features on this page, please enable JavaScript. Congenital toxoplasmosis is a group of symptoms that occur when ...

  1. Congenital Hypothyroidism

    Science.gov (United States)

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

  2. MRT measurements of diastolic relaxation of the hypertrophied left ventricle using a single-slice multi-phase technique. MR-tomographische Messungen der diastolischen Relaxation hypertrophierter linker Ventrikel mit Single-slice-multi-phase-Technik

    Energy Technology Data Exchange (ETDEWEB)

    Pitton, M.B. (Klinik und Poliklinik fuer Radiologie, Mainz Univ. (Germany)); Just, M. (Klinik und Poliklinik fuer Radiologie, Mainz Univ. (Germany)); Himmelsbach, F. (1. Medizinische Klinik und Poliklinik, Mainz Univ. (Germany)); Thelen, M. (Klinik und Poliklinik fuer Radiologie, Mainz Univ. (Germany))

    1993-11-01

    In order to assess diastolic ventricular function in hypertensive patients, a single-slice multiphase sequence was used in order to measure contraction and early diastolic relaxation. There was no difference in the contraction velocity between hyperintensives and normals (Vsys.n.r.=56.1[+-]13.8% LVEDV/s vs. 51.7[+-]8.6% LVEDV/s, stat.n.sign.). Early disatolic relaxation velocity in hyperintensives was reduced as compared with the control group (Vdiast.l.n.r.=37.9[+-]13.1% LVEDV/s vs. 47.1[+-]9.6% LVEDV/s, p<0.05). There was no linear relation between abnormal relaxation and the extent of myocardial hypertrophy. Hyperintensives with myocardial hypertrophy frequently had reduced early distolic relaxation velocity. Regression analysis for estimating left ventricular volumes derived from single-slice measurements were confirmed by additional multislice measurements. The calculated LVED correlated at r=0.956 with multi-slice measurements and tended to show lower values (LVEDV n.r.=104.6[+-]30.8 ml vs. LVEDV=102.1[+-]28.8 ml, r=0.956, p<0.05). The LVESV was overestimated by the multi-slice technique, the calculated regression volume averaged 23% lower, realistic values (LVESV n.r.=28.5[+-]15.3 ml vs. LVESV=37.1[+-]15.6 ml, r=0.887, p<0.001). (orig.)

  3. Right ventricular outflow tract obstruction caused by double-chambered right ventricle presenting in adulthood.

    Science.gov (United States)

    Kokotsakis, John; Rouska, Efthymia G; Harling, Leanne; Ashrafian, Hutan; Anagnostakou, Vania; Charitos, Christos; Athanasiou, Thanos

    2014-08-01

    Congenital heart diseases that cause obstruction of the right ventricular outflow tract are often difficult to diagnose. We report the case of a 49-year-old man who presented with long-standing shortness of breath on exertion. Imaging revealed right ventricular outflow tract obstruction caused by a double-chambered right ventricle, and he was referred for surgical correction. This case emphasizes both the detailed perioperative evaluation that is needed when diagnosing adults who present with manifestations of congenital heart disease and a method of successful surgical correction that resulted in symptom resolution.

  4. Surgical planning for a complex double-outlet right ventricle using 3D printing.

    Science.gov (United States)

    Bhatla, Puneet; Tretter, Justin T; Chikkabyrappa, Sathish; Chakravarti, Sujata; Mosca, Ralph S

    2017-05-01

    Rapid prototyping may be beneficial in properly selected cases of complex congenital heart disease, providing detailed anatomical understanding that helps to guide potential surgical and cardiac catheterization interventions. We present a case of double-outlet right ventricle, where the decision to obtain a three-dimensional printed model helped for better understanding of the anatomy, with the additional advantage of surgical simulation in planning the surgical approach and type of surgical repair. © 2017, Wiley Periodicals, Inc.

  5. Mechanical circulatory support challenges in pediatric and (adult) congenital heart disease.

    Science.gov (United States)

    Schweiger, Martin; Lorts, Angela; Conway, Jennifer

    2018-03-20

    Increased miniaturization of ventricular assist devices (VADs) and new mechanical support strategies (MCS) has increased the use of MCS in the pediatric and congenital heart disease (CHD) population. This comes with the need for care providers specialized in this field to determine optimal patient and device selection, and to improve outcomes and decrease complication rates for new innovative strategies. A review of the published literature in this field is timely and relevant. There has been a rapid evolution of using adult designed continuous flow VADS to support children and adults with CHD (ACHD). Patient selection for patients with CHD is complex because of patient size and anatomical diversity and, therefore, makes decision-making complex and unique when compared to general adult practice. Outcomes for children depend on size and diagnosis with neonates with single ventricle physiology being the highest risk candidates. This also holds true for ACHD, in which VAD outcomes in patients with two ventricle physiology are comparable to non-ACHD patients. In children, there is an increased use of continuous flow devices and a growing experience with outpatient management. Patients with CHD especially when associated with single ventricle physiologies, remain a challenge when it comes to MCS/VAD placement but successful durable VAD implantation with discharge home has been reported.

  6. Aristotle score predicts outcome in patients requiring extracorporeal circulatory support following repair of congenital heart disease.

    Science.gov (United States)

    Derby, Christopher D; Kolcz, Jacek; Kerins, Paul J; Duncan, Daniel R; Quezada, Emilio; Pizarro, Christian

    2007-01-01

    Extracorporeal membrane oxygenation (ECMO) has become the standard technique of mechanical support for the failing circulation following repair of congenital heart lesions. The objective of this study was to identify predictors of survival in patients requiring postcardiotomy ECMO. The Aristotle score, a method developed to evaluate quality of care based on complexity, was investigated as a potential predictor of outcome. Between 2003 and 2005, 37 patients required ECMO following corrective surgery for congenital heart disease. Records were reviewed retrospectively with emphasis on factors affecting survival to discharge. The comprehensive Aristotle complexity score was calculated for each patient. Overall, 28 patients (76%) survived to decannulation and 17 patients (46%) survived to discharge. There were 24 (65%) neonates and 10 patients (27%) with single ventricle physiology, with a hospital survival of 42% (10 of 24) and 50% (5 of 10), respectively. Univariate factors associated with survival included Aristotle score, duration of support, reexploration, multiple organ failure, and number of complications. Age, weight, and single-ventricle physiology were not significant. In a logistic regression model, an Aristotle score Aristotle score is predictive of outcome in patients requiring postcardiotomy ECMO and may serve as a uniform criterion when comparing and evaluating quality of care and performance in this complex patient population.

  7. Transtentorial herniation of the fourth ventricle

    International Nuclear Information System (INIS)

    Rosenfeld, D.L.; Lis, E.; DeMarco, K.

    1995-01-01

    Transtentorial herniation (TTH) of the fourth ventricle is the result of a progressive enlargement of an isolated fourth ventricle which herniates through the tentorial incisure into the middle cranial fossa. The characteristic CT-MR and neurosonographic findings are described. (orig.)

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

    Science.gov (United States)

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

    2017-08-01

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

  9. Echocardiographic assessment of the right ventricle in the current era: Application in clinical practice.

    Science.gov (United States)

    Venkatachalam, Sridhar; Wu, Geru; Ahmad, Masood

    2017-12-01

    The right ventricle has unique structural and functional characteristics. It is now well recognized that the so-called forgotten ventricle is a key player in cardiovascular physiology. Furthermore, there is accumulating evidence that demonstrates right ventricular dysfunction as an important marker of morbidity and mortality in several commonly encountered clinical situations such as heart failure, pulmonary hypertension, pulmonary embolism, right ventricular myocardial infarction, and adult congenital heart disease. In contrast to the left ventricle, echocardiographic assessment of right ventricular function is more challenging as volume estimations are not possible without the use of three-dimensional (3D) echocardiography. Guidelines on chamber quantification provide a standardized approach to assessment of the right ventricle. The technique and limitations of each of the parameters for RV size and function need to be fully understood. In this era of multimodality imaging, echocardiography continues to remain a useful tool for the initial assessment and follow-up of patients with right heart pathology. Several novel approaches such as 3D and strain imaging of the right ventricle have expanded the usefulness of this indispensable modality. © 2017, Wiley Periodicals, Inc.

  10. Characterization of neonatal patients with intraventricular hemorrhage using 3D ultrasound cerebral ventricle volumes

    Science.gov (United States)

    Kishimoto, Jessica; Fenster, Aaron; Lee, David S. C.; de Ribaupierre, Sandrine

    2015-03-01

    One of the major non-congenital cause of neurological impairment among neonates born very preterm is intraventricular hemorrhage (IVH) - bleeding within the lateral ventricles. Most IVH patients will have a transient period of ventricle dilation that resolves spontaneously. However, those patients most at risk of long-term impairment are those who have progressive ventricle dilation as this causes macrocephaly, an abnormally enlarged head, then later causes increases intracranial pressure (ICP). 2D ultrasound (US) images through the fontanelles of the patients are serially acquired to monitor the progression of the ventricle dilation. These images are used to determine when interventional therapies such as needle aspiration of the built up CSF might be indicated for a patient. Initial therapies usually begin during the third week of life. Such interventions have been shown to decrease morbidity and mortality in IVH patients; however, this comes with risks of further hemorrhage or infection; therefore only patients requiring it should be treated. Previously we have developed and validated a 3D US system to monitor the progression of ventricle volumes (VV) in IVH patients. This system has been validated using phantoms and a small set of patient images. The aim of this work is to determine the ability of 3D US generated VV to categorize patients into those who will require interventional therapies, and those who will have spontaneous resolution. Patients with higher risks could therefore be monitored better, by re-allocating some of the resources as the low risks infants would need less monitoring.

  11. Biventricular repair in double outlet right ventricle: surgical results based on the STS-EACTS International Nomenclature classification.

    Science.gov (United States)

    Artrip, John H; Sauer, Henning; Campbell, David N; Mitchell, Max B; Haun, Christoph; Almodovar, Melvin C; Hraska, Viktor; Lacour-Gayet, Francois

    2006-04-01

    The STS-EACTS International Nomenclature for Congenital Heart Surgery (CHS) defines four anatomic subtypes of double outlet right ventricle (DORV) based on the relationship of the ventricular septal defect (VSD) with the great vessels and the presence of right ventricular outflow tract obstruction (RVOTO). We reviewed our experience with DORV patients and two ventricles that underwent repair, applying this nomenclature. Between January 2000 and January 2005, 50 patients with DORV and two viable ventricles underwent surgical intervention: 44 patients had biventricular repair, 3 had 1.5 ventricular repair, 2 underwent a Fontan, and 1 died prior to corrective surgery. Median age at repair was 9.1 months (range: 4D-4Y). Eighteen patients (36%) were DORV-Fallot (including 5 with AVSD and heterotaxy), 9 (18%) were DORV-TGA (Taussig-Bing), 12 (24%) were DORV-VSD, and 11 (22%) were DORV non-committed VSD. Corrective surgery included 35 repairs with a VSD-aorta baffle+/-RVOTO procedure and 12 arterial switches with a VSD-PA baffle (9 Taussig-Bing and 3 DORV-ncVSD). Associated procedures included 13 VSD enlargements, 8 subaortic resections, 9 arch repairs, 5 AVSD repairs, and 7 others. There were three deaths in the 50 patients studied (overall mortality of 6%). Excluding one patient that died prior to corrective surgery and the two patients palliated with a Fontan procedure, the actual surgical mortality for a corrective repair was 4.3% (2/47 patients). Two surgical deaths occurred following, respectively, one repair of a Taussig-Bing with an interrupted arch and a Swiss cheese VSD and one repair of ncVSD-type with pulmonary atresia that had undergone a previous cavo-pulmonary anastamosis. No late deaths occurred. Two late reoperations included a heart transplant in a DORV-Fallot patient with Swiss cheese VSD and subaortic resection in a DORV-ncVSD patient. Angioplasties were needed for PA stenosis (n=2) and aortic arch obstruction (n=2). Four patients had LV to aorta

  12. 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

  13. Electromechanical models of the ventricles.

    Science.gov (United States)

    Trayanova, Natalia A; Constantino, Jason; Gurev, Viatcheslav

    2011-08-01

    Computational modeling has traditionally played an important role in dissecting the mechanisms for cardiac dysfunction. Ventricular electromechanical models, likely the most sophisticated virtual organs to date, integrate detailed information across the spatial scales of cardiac electrophysiology and mechanics and are capable of capturing the emergent behavior and the interaction between electrical activation and mechanical contraction of the heart. The goal of this review is to provide an overview of the latest advancements in multiscale electromechanical modeling of the ventricles. We first detail the general framework of multiscale ventricular electromechanical modeling and describe the state of the art in computational techniques and experimental validation approaches. The powerful utility of ventricular electromechanical models in providing a better understanding of cardiac function is then demonstrated by reviewing the latest insights obtained by these models, focusing primarily on the mechanisms by which mechanoelectric coupling contributes to ventricular arrythmogenesis, the relationship between electrical activation and mechanical contraction in the normal heart, and the mechanisms of mechanical dyssynchrony and resynchronization in the failing heart. Computational modeling of cardiac electromechanics will continue to complement basic science research and clinical cardiology and holds promise to become an important clinical tool aiding the diagnosis and treatment of cardiac disease.

  14. Trends in congenital anomalies in Europe from 1980 to 2012

    Science.gov (United States)

    Springett, Anna L.; Greenlees, Ruth; Loane, Maria; Addor, Marie-Claude; Arriola, Larraitz; Barisic, Ingeborg; Bergman, Jorieke E. H.; Csaky-Szunyogh, Melinda; Dias, Carlos; Draper, Elizabeth S.; Garne, Ester; Gatt, Miriam; Khoshnood, Babak; Klungsoyr, Kari; Lynch, Catherine; McDonnell, Robert; Nelen, Vera; Neville, Amanda J.; O'Mahony, Mary; Pierini, Anna; Queisser-Luft, Annette; Randrianaivo, Hanitra; Rankin, Judith; Rissmann, Anke; Kurinczuk, Jennifer; Tucker, David; Verellen-Dumoulin, Christine; Wellesley, Diana; Dolk, Helen

    2018-01-01

    Background Surveillance of congenital anomalies is important to identify potential teratogens. Methods This study analysed the prevalence of 61 congenital anomaly subgroups (excluding chromosomal) in 25 population-based EUROCAT registries (1980–2012). Live births, fetal deaths and terminations of pregnancy for fetal anomaly were analysed with multilevel random-effects Poisson regression models. Results Seventeen anomaly subgroups had statistically significant trends from 2003–2012; 12 increasing and 5 decreasing. Conclusions The annual increasing prevalence of severe congenital heart defects, single ventricle, atrioventricular septal defects and tetralogy of Fallot of 1.4% (95% CI: 0.7% to 2.0%), 4.6% (1.0% to 8.2%), 3.4% (1.3% to 5.5%) and 4.1% (2.4% to 5.7%) respectively may reflect increases in maternal obesity and diabetes (known risk factors). The increased prevalence of cystic adenomatous malformation of the lung [6.5% (3.5% to 9.4%)] and decreased prevalence of limb reduction defects [-2.8% (-4.2% to -1.5%)] are unexplained. For renal dysplasia and maternal infections, increasing trends may be explained by increased screening, and deceases in patent ductus arteriosus at term and increases in craniosynostosis, by improved follow up period after birth and improved diagnosis. For oesophageal atresia, duodenal atresia/stenosis and ano-rectal atresia/stenosis recent changes in prevalence appeared incidental when compared with larger long term fluctuations. For microcephaly and congenital hydronephrosis trends could not be interpreted due to discrepancies in diagnostic criteria. The trends for club foot and syndactyly disappeared once registries with disparate results were excluded. No decrease in neural tube defects was detected, despite efforts at prevention through folic acid supplementation. PMID:29621304

  15. Emission computer tomography of the left ventricle

    Energy Technology Data Exchange (ETDEWEB)

    Semmler, W.; Felix, R.; Calder, D.; Golde, G.; Botsch, H.

    1983-10-01

    Tomographic studies and time-dependent tomograms on phantoms and patients were carried out using a 7-pinhole collimator in order to study the clinical value of ECG-triggered tomographic radionuclid ventriculography. A suitable computer programme has been developed. The results have shown that it is possible to evaluate local contraction abnormalities by this method. Using a left oblique position of the collimator (LAO (45/sup 0/) - cranial (15/sup 0/)), emission computer tomography is aligned with the longitudinal axis for the heart. In this way, a single projection is sufficient to show the montility of the anterior and posterior walls and of the septum. Hypokinesis, akinesis or dyskinesis can be recognised visually. The localisation and extent of the defect can be determined through the 7-pinhole collimator. Reconstructed images of the triggered radionuclide scintigrams show excellent marginal definition. In the RAO projection the left ventricle can be seen without superimposition and images obtained which equal those of a first-pass technique.

  16. Congenital tuberculosis

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-06-20

    Jun 20, 2012 ... Key words: Congenital tuberculo- sis, case report, miliary tuberculosis. Introduction. Congenital tuberculosis defines tuberculosis in infants of .... tary TB and otitis media, resulting in seizures, deafness, and death. It is therefore not surprising that the index case who presented at twelve weeks of age, had ...

  17. Congenital Myopathy

    Science.gov (United States)

    ... results in weakness. Congenital myopathy refers to a group of muscle disorders that appear at birth or in infancy. Typically, an infant with a congenital myopathy will be "floppy," have difficulty breathing or feeding, and will lag behind other babies in meeting ...

  18. Congenital Myasthenia

    Science.gov (United States)

    ... Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, ... Symptoms of congenital myasthenia usually appear in the first few years of childhood, but may not be noticeable until much later, ...

  19. Congenital ganglioglioma.

    Science.gov (United States)

    Karthikeyan, Gengaimuthu; Subburam, Paiyanan; Ravishankar, Soundian Soundian

    2002-03-01

    Congenital neoplasms of brain presenting at birth are extremely uncommon. We report a case of congenital ganglioglioma presenting at birth with hydrocephalus. Ventriculoperitoneal shunt and surgical debulking of the tumour along with histopathological confirmation were done at 6 months of age. On follow-up at 18 months, the child's hydrocephalus is static and his assessed developmental age is 10-12 months.

  20. An uncommon variant of double-chambered right ventricle masquerading as double-chambered left ventricle.

    Science.gov (United States)

    Baritakis, Nikolaos; Grapsas, Nikolaos; Kotsalos, Andreas; Davlouros, Periklis

    2018-02-01

    We present a rare case of a double-chambered right ventricle masquerading as a double-chambered left ventricle, which was found incidentally on cardiac imaging in an adult female patient with atypical chest pain. The most common form of double-chambered right ventricle is characterized by compartmentalization of the right ventricle by muscular bands into 2 distinct chambers. The main features of this malformation are a pressure gradient between the 2 compartments, and the frequent (up to 90%) association with a membranous ventricular septal defect. In our case, the muscular band dividing the right ventricle was located in the inferoseptal part of the latter, creating a diminutive cavity that had no communication with the main right ventricle but communicated with the left ventricle creating the false impression of a double-chambered left ventricle. This constitutes a rare variant of double-chambered right ventricle with unknown clinical implications. © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

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

    Science.gov (United States)

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

    2013-01-01

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

  2. Prevalence of congenital amusia.

    Science.gov (United States)

    Peretz, Isabelle; Vuvan, Dominique T

    2017-05-01

    Congenital amusia (commonly known as tone deafness) is a lifelong musical disorder that affects 4% of the population according to a single estimate based on a single test from 1980. Here we present the first large-based measure of prevalence with a sample of 20 000 participants, which does not rely on self-referral. On the basis of three objective tests and a questionnaire, we show that (a) the prevalence of congenital amusia is only 1.5%, with slightly more females than males, unlike other developmental disorders where males often predominate; (b) self-disclosure is a reliable index of congenital amusia, which suggests that congenital amusia is hereditary, with 46% first-degree relatives similarly affected; (c) the deficit is not attenuated by musical training and (d) it emerges in relative isolation from other cognitive disorder, except for spatial orientation problems. Hence, we suggest that congenital amusia is likely to result from genetic variations that affect musical abilities specifically.

  3. Stress and quality of life among parents of children with congenital heart disease referred for psychological services.

    Science.gov (United States)

    Kaugars, Astrida; Shields, Clarissa; Brosig, Cheryl

    2018-01-01

    The study examined parent stress and health-related quality of life (HRQOL) among families of children with congenital heart disease (CHD) referred for psychological services. Parents of 54 children (85% boys) aged 3 to 13 (M age  = 7.48, SD = 2.38) completed measures to assess parenting stress (Parenting Stress Index - Short Form; Pediatric Inventory for Parents) and the PedsQL Family Impact Module. Medical information was retrieved from medical record review. Half of parents of children with single ventricle anatomy had clinically significant levels of parenting stress. Parents of children with single ventricle anatomy reported more frequent illness-related stress and more difficulty dealing with illness-related stress than parents of children with two ventricle anatomy. Younger gestational age at birth and referral for attention or behavior problems were associated with greater likelihood of parent at-risk psychosocial functioning. Among children referred for psychological services, many parents report significant stress and significant negative impact of the child's medical condition on the family. Results underscore the need to consider assessing parent psychosocial functioning and providing additional support for parents of children with CHD. © 2017 Wiley Periodicals, Inc.

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

    African Journals Online (AJOL)

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

  5. Surgical intervention of intestinal malrotations in paediatric patients without other congenital anatomical abnormalities: Overview from a single center

    International Nuclear Information System (INIS)

    Berge, F. ten; Tolboom, J.J.M.; Boetes, C.; Severijnen, R.S.V.M.; Draaisma, J.M.Th.

    2006-01-01

    The subject of malrotation in infants and children without other congenital anatomical abnormalities is reviewed from the perspective of experience with 97 patients operated in 11 years. Fifty-five patients were younger than 6 weeks at operation. They often presented with bilious vomiting, in contrast to older children who presented with non-bilious vomiting or feeding problems. Patients younger than 6 weeks were operated more often acutely than older patients. Volvulus was more common in infants younger than 6 weeks. Two patients with a resulting short bowel syndrome died. In 73 of the surviving 95 (76.8%) children their symptoms disappeared. In the children younger than 6 weeks persisting abdominal problems were significantly less frequent than in older children. In the children presenting with proven gastro-esophageal reflux disease before the malrotation operation, abdominal problems persisted significantly more often. Although there remains considerable controversy over how older children without signs of vascular problems should be managed, failure to respond to radiographic evidence of malrotation could be considered malpractice if volvulus was to occur subsequently. For this reason, every patient with a radiological proven malrotation merits diagnostic laparoscopy

  6. Surgical intervention of intestinal malrotations in paediatric patients without other congenital anatomical abnormalities: Overview from a single center

    Energy Technology Data Exchange (ETDEWEB)

    Berge, F. ten [Department of Paediatrics, University Medical Center St Radboud, Postbus 9101, 6500 HB Nijmegen (Netherlands); Tolboom, J.J.M. [Department of Paediatrics, University Medical Center St Radboud, Postbus 9101, 6500 HB Nijmegen (Netherlands); Boetes, C. [Department of Radiology, University Medical Center St Radboud, Postbus 9101, 6500 HB Nijmegen (Netherlands); Severijnen, R.S.V.M. [Department of Paediatric Surgery, University Medical Center St Radboud, Postbus 9101, 6500 HB Nijmegen (Netherlands); Draaisma, J.M.Th. [Department of Paediatrics, University Medical Center St Radboud, Postbus 9101, 6500 HB Nijmegen (Netherlands)]. E-mail: j.draaisma@cukz.umcn.nl

    2006-07-15

    The subject of malrotation in infants and children without other congenital anatomical abnormalities is reviewed from the perspective of experience with 97 patients operated in 11 years. Fifty-five patients were younger than 6 weeks at operation. They often presented with bilious vomiting, in contrast to older children who presented with non-bilious vomiting or feeding problems. Patients younger than 6 weeks were operated more often acutely than older patients. Volvulus was more common in infants younger than 6 weeks. Two patients with a resulting short bowel syndrome died. In 73 of the surviving 95 (76.8%) children their symptoms disappeared. In the children younger than 6 weeks persisting abdominal problems were significantly less frequent than in older children. In the children presenting with proven gastro-esophageal reflux disease before the malrotation operation, abdominal problems persisted significantly more often. Although there remains considerable controversy over how older children without signs of vascular problems should be managed, failure to respond to radiographic evidence of malrotation could be considered malpractice if volvulus was to occur subsequently. For this reason, every patient with a radiological proven malrotation merits diagnostic laparoscopy.

  7. Quality of Life in Individuals Surgically Treated for Congenital Hydrocephalus During Infancy: A Single-Institution Experience.

    Science.gov (United States)

    Khan, Saad Akhtar; Khan, Muhammad Faheem; Bakhshi, Saqib Kamran; Irfan, Omar; Khan, Hamza Abdur Rahim; Abbas, Asad; Awan, Safia; Bari, Muhammad Ehsan

    2017-05-01

    Congenital hydrocephalus (CH) is a frequently encountered birth anomaly that can hinder long-term neurologic maturity and social well-being of affected children. This study was undertaken to assess quality of life (QOL) 10-15 years after surgical treatment for primary CH during infancy at a tertiary care hospital in a developing country. This retrospective cohort study included individuals who presented to Aga Khan University Hospital, Karachi, Pakistan, between 1995 and 2005 at Hydrocephalus Outcome Questionnaire was used to assess outcomes with respect to QOL. Of 118 patients, 90 patients participated in the study. Mean age at first admission was 6.2 months. Mean length of follow-up was 5.4 years. Of these, 28 patients had died after surgery. Shunt infection (P = 0.012) and delayed milestones (P = 0.003) were found to be statistically significant factors affecting mortality in the patients who died. The mean overall health score was 0.67 ± 0.30. Age Hydrocephalus Outcome Questionnaire (P = 0.039). In our analysis, we assessed the QOL associated with CH. We hope that these results will provide insight for future prospective work with the ultimate goal of improving long-term QOL in children with CH. Copyright © 2017 Elsevier Inc. All rights reserved.

  8. Optimizing CT angiography in patients with Fontan physiology: single-center experience of dual-site power injection

    International Nuclear Information System (INIS)

    Sandler, K.L.; Markham, L.W.; Mah, M.L.; Byrum, E.P.; Williams, J.R.

    2014-01-01

    Aim: To identify adult patients with single-ventricle congenital heart disease and Fontan procedure palliation who have been misdiagnosed with or incompletely evaluated for pulmonary embolism. Additionally, this study was designed to demonstrate that simultaneous, dual-injection of contrast medium into an upper and lower extremity vein is superior to single-injection protocols for CT angiography (CTA) of the chest in this population. Materials and methods: Patients included in the study were retrospectively selected from the Adult Congenital Heart Disease (ACHD) database. Search criteria included history of Fontan palliation and available chest CT examination. Patients were evaluated for (1) type of congenital heart disease and prior operations;(2) indication for initial CT evaluation;(3) route of contrast medium administration for the initial CT examination and resulting diagnosis;(4) whether or not anticoagulation therapy was initiated; and (5) final diagnosis and treatment plan. Results: The query of the ACHD database resulted in 28 individuals or patients with Fontan palliation (superior and inferior venae cavae anastomosed to the pulmonary arteries). Of these, 19 patients with Fontan physiology underwent CTA of the pulmonary circulation, and 17 had suboptimal imaging studies. Unfortunately, seven of these 17 patients (41%) were started on anticoagulation therapy due to a diagnosis of pulmonary embolism that was later excluded. Conclusion: Patients with single-ventricle/Fontan physiology are at risk of thromboembolic disease. Therefore, studies evaluating their complex anatomy must be performed with the optimal imaging protocol to ensure diagnostic accuracy, which is best achieved with dual-injection of an upper and lower extremity central vein. - Highlights: • The adult congenital heart disease population is growing. • Many of these patients have single ventricle/Fontan physiology. • Patients with Fontan physiology are at increased risk for

  9. Cardiac resynchronization therapy for various systemic ventricular morphologies in patients with congenital heart disease.

    Science.gov (United States)

    Sakaguchi, Heima; Miyazaki, Aya; Yamada, Osamu; Kagisaki, Koji; Hoashi, Takaya; Ichikawa, Hajime; Ohuchi, Hideo

    2015-01-01

    Cardiac resynchronization therapy (CRT) can result in functional improvement and reduced mortality in patients with medically refractory heart failure. Although CRT is reportedly effective in patients with congenital heart disease (CHD), it is still controversial in patients who have systemic right ventricle. METHODS AND RESULTS: Twenty CHD patients treated with CRT since 2006 were divided into 3 groups based on systemic ventricular (sysV) morphology (7 with left ventricle [sLV], 7 with right ventricle [sRV], and 6 with unbalanced 2 ventricles as a single-ventricular physiology [sBV]). The acute effects of CRT on hemodynamics and sysV function before device implantation was retrospectively evaluated and the chronic (≥6 months) effects of CRT on late outcomes was assessed. In our CHD populations, sysV volume index was reduced from 139±41 to 118±33 ml/m(2)(P=0.04) after CRT, and there was significant improvement in B-type natriuretic peptide levels (from 341±384 to 160±152 pg/ml, P=0.01) and New York Heart Association (NYHA) functional class (from 2.1±0.6 to 1.8±0.7, P=0.02) on a late outcome. The sRV group did not show a late sysV volume reduction despite significant QRS shortening, and an increase of sysV peak dP/dt in the acute study differed from that of other groups. CRT improves late hemodynamic and functional status in sLV and sBV CHD patients with a dyssynchronized sysV. However, an acute CRT effect cannot guarantee long-term benefit in sRV patients.

  10. Congenital Abnormalities

    Science.gov (United States)

    ... Stages Ages and Stages Prenatal Baby (0-12 mos.) Toddler 1-3yrs. Preschool 3-5yrs Grade School ... Categories of Congenital Abnormalities Chromosome Abnormalities Chromosomes are structures that carry genetic material inherited from one generation ...

  11. Tracheomalacia - congenital

    Science.gov (United States)

    ... other congenital abnormalities, such as heart defects, developmental delay, or gastroesophageal reflux. Aspiration pneumonia can occur from ... urac.org). URAC's accreditation program is an independent audit to verify that A.D.A.M. follows ...

  12. Hypoplastic right heart syndrome, absent pulmonary valve, and non-compacted left ventricle in an adult

    Directory of Open Access Journals (Sweden)

    Jagdish C. Mohan

    2016-09-01

    Full Text Available Hypoplastic right heart syndrome is a rare cyanotic congenital heart disease with under-development of the right ventricle, tricuspid, and pulmonary valves leading to right-to-left shunting of the blood through inter-atrial septal defect. Perinatal mortality is high with very few patients surviving to adulthood without corrective surgery. This report describes a 26-year-old young woman, who had recurrent abortions and stillbirths and detected to have marked cyanosis with hypoplastic right heart, sub-arterial ventricular septal defect, absent pulmonary valve, non-compaction of the left ventricle, and bicuspid aortic valve with aortic regurgitation. The patient died owing to progressive heart failure 4 years after the diagnosis was made.

  13. Radiographic studies of the ventricles in syringomyelia

    International Nuclear Information System (INIS)

    West, R.J.; Williams, B.

    1980-01-01

    Radiographic investigations of 171 patients with communicating syringomyelia have been reviewed. Hydrocephalus was found in one third of the cases and has occasionally progressed after operation on the posterior fossa, sometimes with accompanying clinical deterioration. The outlets of the fourth ventricle were usually abnormal; tonsillar descent, arachnoiditis and both together were seen. Arachnoiditis correlated strongly with a history of difficult birth. The foramen of Magendie was sometimes patent and sometimes blocked. There was no consistent level of occulusion corresponding to a persistent roof of the fourth ventricle. The cisterna magna was usually small or obliterated but some examples of large cisterns or subarachnoid pouches were found. Radiological demonstration of a communication from the fourth ventricle to the syrinx occurred in only seven patients by positive contrast material and not by air. It is suggested that a sizable communication is rare at the time when patients seek treatment. (orig.)

  14. Septum formation of the lateral ventricles

    International Nuclear Information System (INIS)

    Celik, Hakan H.; Aldur, Mustafa M.; Tatar, I.; Tascioglu, A.B.

    2005-01-01

    In an MRI study examining anomalies of the septum pellucidum in 505 cases, we detected bilateral septum formation of the lateral ventricles in a 17-months-old-baby. In this study, we evaluate 505 (242 males and 263 females) patients referred to the Emaray Imaging Center, Ankara, Turkey with various prediagnoses. We specially selected all the cases from a non-psychotic population. We obtained MRI scans on a 1-Tesla imager (Picker International, Highland Heights, Ohio, USA), with slices of 5 and 6 mm thickness. In the axial and coronal sections, we observed septum formation laterally between the anterior horn and the ventricular body of the lateral ventricles. Radio opaque septum formations started from the caudate nucleus and stretched to the genu of the corpus callosum. There was a second septum formation between the posterior horn and the ventricular body of the right lateral ventricle. It started from the caudate nucleus and stretched to the cavum vergae. (author)

  15. Reversible transinsular herniation of the lateral ventricle

    Energy Technology Data Exchange (ETDEWEB)

    Holodny, Andrei I. [UMDNJ-New Jersey Medical School, Department of Radiology, Newark, NJ (United States); Memorial Sloan Kettering Cancer Center, The Department of Radiology, New York, NY (United States); Gor, Devang M.; Thaver, Hussain; Millian, Brian R. [UMDNJ-New Jersey Medical School, Department of Radiology, Newark, NJ (United States)

    2004-11-01

    We present a 7-year-old boy, with a history of neonatal intraventricular hemorrhage, leading to hydrocephalus with multiple shunt revisions. The current presentation of shunt failure and resultant hydrocephalus was complicated by herniation of the trigone of the lateral ventricle into the posterior fossa. Despite the dramatic radiological appearance, this herniation of the lateral ventricle was not accompanied by any additional clinical signs or symptoms other than those usually attributed to hydrocephalus. Following successful shunt revision, the patient returned to his baseline clinically with the trigone reverting back to its normal position. We also present a second companion case. (orig.)

  16. Combined double chambered right ventricle, tricuspid valve dysplasia, ventricular septal defect, and subaortic stenosis in a dog.

    Science.gov (United States)

    Scurtu, Iuliu; Tabaran, Flaviu; Mircean, Mircea; Giurgiu, Gavril; Nagy, Andras; Catoi, Cornel; Ohad, Dan G

    2017-11-29

    Double chambered right ventricle (DCRV) is a congenital heart anomaly where the right ventricle is divided into two chambers. We describe, for the first time, an unusual combination of DCRV combined with some other congenital heart defects. A 1.2-year-old Golden Retriever was presented with lethargy, exercise intolerance and ascites. Physical examination revealed an irregularly irregular pulse and a grade V/VI, systolic, right cranial murmur. Electrocardiography revealed widened and splintered QRS complexes with a right bundle-branch block pattern. Radiography demonstrated right-sided cardiomegaly. Two-dimensional echocardiography identified a DCRV with tricuspid valve dysplasia. The patient died despite abdominocentesis and 4 days of oral pharmacotherapy, and necropsy revealed an anomalous fibromuscular structure that divided the right ventricle into two compartments. Another finding was tricuspid valve dysplasia with hypoplasia of the posterior and septal leaflets. The anterior leaflet was prominent, being part of the anomalous structure that divided the right ventricle. Necropsy also identified a perimembranous ventricular septal defect and mild subaortic stenosis. Histopathological examination of the fibromuscular band that separated the right ventricle identified longitudinally oriented layers of dense fibrous connective tissue and myocardial cells arranged in a plexiform pattern. The muscular component was well represented at the ventral area of the fibromuscular band, and was absent in the central zone. Superficially, the endocardium presented areas of nodular hyperplasia covering mainly the fibrous part of the abnormal structure. The nodules were sharply demarcated and were composed by loosely arranged connective tissue with myxoid appearance, covered by discrete hyperplastic endocardium. Concomitant cardiac malformations involving DCRV, tricuspid valve dysplasia, perimembranous ventricular septal defect and mild subaortic stenosis have not been previously

  17. A case of multiple coronary microfistulas to the left ventricle and apical myocardial hypertrophy coexisting with stable angina

    OpenAIRE

    Yildiz, Bekir Serhat; Bilgin, Murat; Alihanoglu, Yusuf Izzettin; Evrengul, Harun

    2013-01-01

    A coronary artery fistula consists of a communication between a coronary artery and a cardiac chamber, a great artery or the vena cava. It is the most common congenital anomaly that can affect coronary perfusion. However, coronary fistulas to one of the cardiac chambers and coexisting apical myocardial hypertophy are infrequent anomalies, and usually are found unexpectedly. Herein, we report a case in which all three major coronary arteries emptied into the left ventricle with apical hypertro...

  18. A case of multiple coronary microfistulas to the left ventricle and apical myocardial hypertrophy coexisting with stable angina.

    Science.gov (United States)

    Yildiz, Bekir Serhat; Bilgin, Murat; Alihanoglu, Yusuf Izzettin; Evrengul, Harun

    2013-07-01

    A coronary artery fistula consists of a communication between a coronary artery and a cardiac chamber, a great artery or the vena cava. It is the most common congenital anomaly that can affect coronary perfusion. However, coronary fistulas to one of the cardiac chambers and coexisting apical myocardial hypertophy are infrequent anomalies, and usually are found unexpectedly. Herein, we report a case in which all three major coronary arteries emptied into the left ventricle with apical hypertrophy, through multiple microfistulas.

  19. Double Chamber Left Ventricle Associated With Severe Form of the Hypertrophic Cardiomyopathy and High Left Intracavitary Pressure

    OpenAIRE

    Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Zeka, Naim; Maloku, Arlinda; Berisha, Majlinda

    2013-01-01

    Double-chambered left ventricle (DCLV) is a rare congenital anomaly, and only a few cases have been reported in the literature, in which a 2-chambered LV is separated by the interventricular septum or an abnormal muscle bundle.We report a case of a girl who was presented at tertiary level for cardiological examination where, during the routine examination systolic murmur was registered. After echocardiographical examination DCLV was confirmed. Anomaly was associated with idiopathic hypertroph...

  20. Cyanotic Congenital Heart Defects – literature review

    Directory of Open Access Journals (Sweden)

    Vlad Drăgoi

    2017-11-01

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

  1. [Double outlet right ventricle. Embryological approach].

    Science.gov (United States)

    Muñoz-Castellanos, Luis; Kuri, Magdalena

    2012-01-01

    It is proposed a pathogenetic explanation that explains the morphogenesis of the anatomic variants of double outlet right ventricle. An anatomic embryological correlation was made in which the plane separating the outlets and great arteries in the types of this cardiopathy was compared with the normal truncoconal septum in the embryonic heart. Thirty five hearts with double outlet right ventricle were described, fifteen with great arteries slightly crossed, ten with side by side great arteries and ten with anterior aorta and posterior pulmonary artery. The cephalic border of the truncoconal septum was compared with its inferior border in each group. With this procedure we calculated the type of torsion of the truncoconal septum. In the slightly crossed great arteries the truncoconal twist was of 135° in side by side great arteries the twist was of 90° and in anterior right aorta the truncoconal septum was straight with 0° of rotation, and with left anterior aorta the rotation was of -90°. Embryologically double outlet right ventricle is originated by the persisting continuity between the right ventricle with the truncus and conus which form the great arteries and their outlets. The anatomic variations are the consequence of progressive detortion of the truncoconal septum followed by a torsion of -90°. Copyright © 2012 Instituto Nacional de Cardiología Ignacio Chávez. Published by Masson Doyma México S.A. All rights reserved.

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

    International Nuclear Information System (INIS)

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

    2003-01-01

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

  3. Effect of cleft palate repair on the susceptibility to contraction-induced injury of single permeabilized muscle fibers from congenitally-clefted goat palates.

    Science.gov (United States)

    Rader, Erik P; Cederna, Paul S; McClellan, William T; Caterson, Stephanie A; Panter, Kip E; Yu, Deborah; Buchman, Steven R; Larkin, Lisa M; Faulkner, John A; Weinzweig, Jeffrey

    2008-03-01

    Despite cleft palate repair, velopharyngeal competence is not achieved in approximately 15% of patients, often necessitating secondary surgical correction. Velopharyngeal competence postrepair may require the conversion of levator veli palatini muscle fibers from injury-susceptible type 2 fibers to injury-resistant type 1 fibers. As an initial step to determining the validity of this theory, we tested the hypothesis that, in most cases, repair induces the transformation to type 1 fibers, thus diminishing susceptibility to injury. Single permeabilized levator veli palatini muscle fibers were obtained from normal palates and nonrepaired congenitally-clefted palates of young (2 months old) and adult (14 to 15 months old) goats and from repaired palates of adult goats (8 months old). Repair was done at 2 months of age using a modified von Langenbeck technique. Fiber type was determined by contractile properties and susceptibility to injury was assessed by force deficit, the decrease in maximum force following a lengthening contraction protocol expressed as a percentage of initial force. For normal palates and cleft palates of young goats, the majority of the fibers were type 2 with force deficits of approximately 40%. Following repair, 80% of the fibers were type 1 with force deficits of 20% +/- 2%; these deficits were 45% of those for nonrepaired cleft palates of adult goats (p < .0001). The decrease in the percentage of type 2 fibers and susceptibility to injury may be important for the development of a functional levator veli palatini muscle postrepair.

  4. 3D Printing in Surgical Management of Double Outlet Right Ventricle.

    Science.gov (United States)

    Yoo, Shi-Joon; van Arsdell, Glen S

    2017-01-01

    Double outlet right ventricle (DORV) is a heterogeneous group of congenital heart diseases that require individualized surgical approach based on precise understanding of the complex cardiovascular anatomy. Physical 3-dimensional (3D) print models not only allow fast and unequivocal perception of the complex anatomy but also eliminate misunderstanding or miscommunication among imagers and surgeons. Except for those cases showing well-recognized classic surgical anatomy of DORV such as in cases with a typical subaortic or subpulmonary ventricular septal defect, 3D print models are of enormous value in surgical decision and planning. Furthermore, 3D print models can also be used for rehearsal of the intended procedure before the actual surgery on the patient so that the outcome of the procedure is precisely predicted and the procedure can be optimally tailored for the patient's specific anatomy. 3D print models are invaluable resource for hands-on surgical training of congenital heart surgeons.

  5. 3D Printing in Surgical Management of Double Outlet Right Ventricle

    Directory of Open Access Journals (Sweden)

    Shi-Joon Yoo

    2018-01-01

    Full Text Available Double outlet right ventricle (DORV is a heterogeneous group of congenital heart diseases that require individualized surgical approach based on precise understanding of the complex cardiovascular anatomy. Physical 3-dimensional (3D print models not only allow fast and unequivocal perception of the complex anatomy but also eliminate misunderstanding or miscommunication among imagers and surgeons. Except for those cases showing well-recognized classic surgical anatomy of DORV such as in cases with a typical subaortic or subpulmonary ventricular septal defect, 3D print models are of enormous value in surgical decision and planning. Furthermore, 3D print models can also be used for rehearsal of the intended procedure before the actual surgery on the patient so that the outcome of the procedure is precisely predicted and the procedure can be optimally tailored for the patient’s specific anatomy. 3D print models are invaluable resource for hands-on surgical training of congenital heart surgeons.

  6. Anesthetic management for cesarean section in a patient with uncorrected double-outlet right ventricle.

    Science.gov (United States)

    Gu, Juan; Cai, Yunxia; Liu, Bin; Lv, Sheng

    2016-01-01

    We describe the anesthetic management for cesarean section in a pregnant woman with uncorrected double-outlet right ventricle. The anesthetic method, treatment of complications and lessons are discussed. A 28-year-old woman visited our emergency room for progressive dyspnea and recurrent hemoptysis at 30 weeks' gestation. Her New York Heart Association functional class was III-IV. Echocardiography indicated that she had congenital heart disease of double-outlet right ventricle. She hadn't received any treatment. The obstetrician decided to terminate the pregnancy by cesarean section. We chose epidural anesthesia and pumped phenylephrine at the same time to minimize hemodynamic fluctuation. Just in the process of changing position to supine position with uterus displaced to the left, the patient coughed badly and complained about dyspnea. At the same time, the oxygen saturation decreased quickly. The symptoms were ameliorated soon by treating as heart failure. But the symptoms reappeared after oxytocin administration. At the end of surgery, the baby was sent to the Neonatal Intensive Care Unit for premature birth. The mother recovered successfully and discharged 7 days later. Double-outlet right ventricle is a seldom disease and pregnancy with uncorrected double-outlet right ventricle is rare. In this case, the patient belonged to the type of ventricular septal defect characterized by subaortic ventricular septal defect without pulmonary stenosis. Most of the aorta arises from the right ventricle, the volume of venous blood was injected from the right ventricle into the aorta, which decided the oxygen saturations. Compared to general anesthesia, epidural anesthesia reduces venous return and alleviates the cardiac burden. So, we pumped phenylephrine along with epidural anesthesia in case of critical cyanosis following significant blood pressure decrease. In the process of anesthesia, dyspnea, cough and cyanosis attacked the patient for two times. The most

  7. Morphological three-dimensional analysis of papillary muscles in borderline left ventricles.

    Science.gov (United States)

    Velasco Forte, Mari N; Nassar, Mohamed; Byrne, Nick; Silva Vieira, Miguel; Pérez, Israel V; Ruijsink, Bram; Simpson, John; Hussain, Tarique

    2017-09-01

    Mitral valve anatomy has a significant impact on potential surgical options for patients with hypoplastic or borderline left ventricle. Papillary muscle morphology is a major component regarding this aspect. The purpose of this study was to use cardiac magnetic resonance to describe the differences in papillary muscle anatomy between normal, borderline, and hypoplastic left ventricles. We carried out a retrospective, observational cardiac magnetic resonance study of children (median age 5.36 years) with normal (n=30), borderline (n=22), or hypoplastic (n=13) left ventricles. Borderline and hypoplastic cases had undergone an initial hybrid procedure. Morphological features of the papillary muscles, location, and arrangement were analysed and compared across groups. All normal ventricles had two papillary muscles with narrow pedicles; however, 18% of borderline and 46% of hypoplastic cases had a single papillary muscle, usually the inferomedial type. In addition, in borderline or hypoplastic ventricles, the supporting pedicle occasionally displayed a wide insertion along the ventricular wall. The length ratio of the superolateral support was significantly different between groups (normal: 0.46±0.08; borderline: 0.39±0.07; hypoplastic: 0.36±0.1; p=0.009). No significant difference, however, was found when analysing the inferomedial type (0.42±0.09; 0.38±0.07; 0.39±0.22, p=0.39). The angle subtended between supports was also similar among groups (113°±17°; 111°±51° and 114°±57°; p=0.99). A total of eight children with borderline left ventricle underwent biventricular repair. There were no significant differentiating features for papillary muscle morphology in this subgroup. The superolateral support can be shorter or absent in borderline or hypoplastic left ventricle cases. The papillary muscle pedicles in these patients often show a broad insertion. These changes have important implications on surgical options and should be described routinely.

  8. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

    In contrast to the sophisticated music processing reported in the general population, individuals with congenital amusia show deficits in music perception and production. Congenital amusia occurs without brain damage, sensory or cognitive deficits, and has been suggested as a lifelong deficit with genetic origin. Even though recognized for a long time, this disorder has been systematically studied only relatively recently for its behavioral and neural correlates. The currently most investigated hypothesis about the underlying deficits concerns the pitch dimension, notably with impaired pitch discrimination and memory. Anatomic and functional investigations of pitch processing revealed that the amusic brain presents abnormalities in the auditory and inferior frontal cortices, associated with decreased connectivity between these structures. The deficit also impairs processing of pitch in speech material and processing of the time dimension in music for some of the amusic individuals, but does not seem to affect spatial processing. Some studies suggest at least partial dissociation in the disorder between perception and production. Recent studies revealed spared implicit pitch perception in congenital amusia, supporting the power of implicit cognition in the music domain. Current challenges consist in defining different subtypes of congenital amusia as well as developing rehabilitation programs for this "musical handicap." © 2015 Elsevier B.V. All rights reserved.

  9. Congenital Constrictions

    OpenAIRE

    K Pavithran; Ramachandran Nair

    1984-01-01

    A young man having congenital annular constrictions of the legs with lymph-oedema of the left foot below the constriction, webbing of the fingers of both hands, anonychia of two fingers and intrauterine amputation of terminal phalanges of two finger and one big toe is reported.

  10. Congenital Constrictions

    Directory of Open Access Journals (Sweden)

    K Pavithran

    1984-01-01

    Full Text Available A young man having congenital annular constrictions of the legs with lymph-oedema of the left foot below the constriction, webbing of the fingers of both hands, anonychia of two fingers and intrauterine amputation of terminal phalanges of two finger and one big toe is reported.

  11. Automatic determination of the regional ejection fraction of the left ventricle (gated bloodpool)

    International Nuclear Information System (INIS)

    Feser, J.A.

    1982-01-01

    The left ventricular volume curve and the ejection fraction are calculated according to the ''sliding region of interest'' method in which the ventricle contour is redetermined for every single picture of the various phases of the heart beat. The original set of data, consisting of 32 pictures in 64 x 64 matrix resolution, is processed by a three-dimensional filtering process in space (x,y) and time (t). The ventricle contour is determined by convolution of the filtered images with a 7-point Laplacian operator in 4 independent directions. The atrial and ventricular phase histograms are then calculated on the basis of this contour. (WU) [de

  12. Penetrating Stab Wound of the Right Ventricle

    Directory of Open Access Journals (Sweden)

    Onursal Buğra

    2010-04-01

    Full Text Available 18 years old male patient was admitted to our emergency unit with a penetrating stab wound to the right ventricle. A stab wound to the right ventricle was found to be 3 cm in diameter. The bleeding was controlled by insertion of a Foley catheter and inflation of the balloon. The stab wound had transected distal acute marginal side ofthe right coronary artery. A successful repair was performed with the use of a foley catheter and application of the Medtronic Octopus Tissue Stabilization System. The wound was closed with pledgeted mattress sutures. The distal acute marginal side of the right coronary artery was ligated. In this presentation, the surgical intervention method was reported and followed by a discussion of emergency surgical procedures of the heart.

  13. Scintigraphic assessment of double-chambered right ventricle

    International Nuclear Information System (INIS)

    Nishimura, Tsunehiko; Uehara, Toshiisa; Hayashida, Kohei

    1987-01-01

    A double-chambered right ventricle is often clinically misdiagnosed and may be missed even during cardiac catheterization. We encountered a 56-year-old male who had abnormal right ventricular thallium-201 uptake and a photon deficient area in the right ventricle by radionuclide cardioangiography. These findings strongly suggested the existence of anomalous muscle band in the right ventricle. It was demonstrated by contrast angiography that the right ventricle was divided into two chambers by a hypertrophic muscular band; the pressure gradient in the right ventricle was 98 mmHg. (author)

  14. [Congenital aniridia].

    Science.gov (United States)

    Chiruţa, Daria; Stan, Cristina

    2014-01-01

    Aniridia is a rare congenital, hereditary, bilateral disease which is associated with various systemic and ocular defects. We present the case of a 61 year old patient who was admitted in the hospital of ophthalmology Cluj Napoca, for the symptoms caused by the ocular defects associated with aniridia. In this case, aniridia is autosomal dominant transmitted with incomplete penetrance and it is not accompanied by any systemic defects. The disease also affects three of her sons and two nephews of the patient.

  15. Congenital diplopodia

    International Nuclear Information System (INIS)

    Brower, Jason S.; Wootton-Gorges, Sandra L.; Costouros, John G.; Boakes, Jennette; Greenspan, Adam

    2003-01-01

    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.)

  16. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

    There are several types of hydrocephalus, which are characterized based on the location of the cerebrospinal fluid (CSF) accumulation. Physical features of animals with congenital hydrocephalus may include a dome-shaped skull, persistent fontanelle, and bilateral ventrolateral strabismus. Medical therapy involves decreasing the production of CSF. The most common surgical treatment is placement of a ventriculoperitoneal shunt. Postoperative complications may include infection, blockage, drainage abnormalities, and mechanical failure. Copyright © 2016 Elsevier Inc. All rights reserved.

  17. Congenital toxoplasmosis.

    Science.gov (United States)

    Kieffer, François; Wallon, Martine

    2013-01-01

    Congenital toxoplasmosis results from the transplacental transmission of the parasite Toxoplasma gondii after a maternal infection acquired in pregnancy. Prevalence of congenital infection ranges from 0.1 to 0.3 per 1000 live births. The maternal-fetal transmission rate increases with gestational age at maternal seroconversion, from less than 15% at 13 weeks of gestation to over 70% at 36 weeks. Conversely, the later the maternal infection, the lower the risk of symptomatic congenital infection (infections acquired during the third trimester are most often asymptomatic at birth). Prenatal diagnosis is currently performed by PCR analysis in amniotic fluid. Antenatal management and treatment vary considerably among countries. In some European countries, maternal infections are detected through serological screening allowing a prompt treatment with spiramycin, which is expected to reduce the risk of vertical transmission. If PCR analysis in amniotic fluid is positive or if maternal infection was acquired in the third trimester of pregnancy, a combination with pyrimethamine and sulphonamide is given until delivery. Benefits of antenatal treatments remain controversial. Infected newborns are prescribed pyrimethamine and sulphonamide for 12 months. Despite antenatal and postnatal treatment, chorioretinitis can occur at any age (prevalence>20% at 10 years of age): long-term ophthalmological follow-up remains necessary. Copyright © 2013 Elsevier B.V. All rights reserved.

  18. Congenital hemifacial hyperplasia

    Directory of Open Access Journals (Sweden)

    S A Deshingkar

    2011-01-01

    Full Text Available Congenital hemifacial hyperplasia (CHH is a rare congenital malformation characterized by marked unilateral overdevelopment of hard and soft tissues of the face. Asymmetry in CHH is usually evident at birth and accentuated with age, especially at puberty. The affected side grows at a rate proportional to the nonaffected side so that the disproportion is maintained thr oughout the life. Multisystem involvement has resulted in etiological heterogeneity including heredity, chromosomal abnormalities, atypical forms of twinning, altered intrauterine environment, and endocrine dysfunctions; however, no single theory explains the etiology adequately. Deformities of all tissues of face, including teeth and their related tissues in the jaw, are key findings for correct diagnosis of CHH. Here an attempt has been made to present a case of CHH with its archetypal features and to supplement existing clinical knowledge.

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

    Science.gov (United States)

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

    2016-05-15

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

  20. Role of angiocardiography in the diagnosis and management of complex/complicated congenital heart disease

    International Nuclear Information System (INIS)

    Ling Jian; Liu Yuqing

    2006-01-01

    Objective: To evaluate the role of angiocadiography (ACG) in the diagnosis and management of complex/complicated congenital heart disease (CHD). Methods: A retrospective study of ACG findings in 360 cases with complex/complicated CHD was performed with a comparision to that of echocardiography (Echo) and related clinical examination. Results: The present series of CHD cases included pulmonary atresia with ventricular septal defect in 75 cases, double outlet of right ventricle in 62 cases, Fallot's tetralogy in 60 cases, single ventricle in 52 cases, transposition of the great arteries in 42 cases, tricuspid valve atresia in 15 cases, coronary abnormality in 6 eases, total abnormal pulmonary venous connection in 5 cases, total endocardial cushion defect in 5 cases, persistent truncus arteriosus in 4 cases, pulmonary atresia with normal ventricular septum in 3 cases, other disorders in 7 eases, and postsurgical operation in 24 cases. ACG was superior to that of Echo in demonstrating the abnormalities of systemic, pulmonary, and coronary arteries and their branches of complex/complicated CHD as well as measuring the pressure of pulmonary artery, vein, and systemic-pulmonary collateral vessels. Conclusion: In the diagnosis and differential diagnosis of knotty cases with complex and complicated CHD, particularly in the demonstration of full view of systemic, pulmonary, and coronary arterial branches and accurate measurement of' pulmonary arterial pressure/resistance, and atrial, ventricular, and systemic arterial pressure, ACG (including DSA) still plays an important and irreplaceable role. (authors)

  1. Computed tomography in congenital ocular motor apraxia

    Energy Technology Data Exchange (ETDEWEB)

    Eda, I.; Takashima, S.; Kitahara, T.; Ohno, K.; Takeshita, K.

    1984-09-01

    Unusual computed tomographic findings were observed in four patients with congenital ocular motor apraxia (COMA). These (CT) findings were characteristic in the posterior cranial fossa, with a dilated or deformed shape and size of the fourth ventricle, particularly its upper portion. One case revealed partial agenesis of the cerebellar vermis. It was suggested that the four patients subjected to CT showed abnormal topography of the cerebellar vermis or the brain stem. We postulate that these CT findings in COMA may have an important role in its pathogenesis.

  2. How should we diagnose and differentiate hearts with double-outlet right ventricle?

    Science.gov (United States)

    Bharucha, Tara; Hlavacek, Anthony M; Spicer, Diane E; Theocharis, Paraskevi; Anderson, Robert H

    2017-01-01

    Many, if not most, of the controversies regarding the description of the congenitally malformed heart have been resolved over the turn of the 20th century. A group of lesions that remains contentious is the situation in which both arterial trunks, in their greater part, are supported by the morphologically right ventricle. It was considered, for many years, that presence of bilateral infundibulums, or conuses, was a necessity for such a diagnosis. It has now been appreciated that this suggestion founders on many counts. In the first instance, such bilateral infundibulums are to be found in patients with other ventriculo-arterial connections, including the otherwise normal heart. In the second instance, it is clear that such an approach abrogates the important principle now known as the morphological method. This states that entities should be defined in terms of their intrinsic morphology and not on the basis of other variable features. It is now also clear that, when assessed simply on the basis of the ventricular origin of the arterial trunks, a significant number of patients fulfil the criteria for so-called "200%" origin of the trunks from the right ventricle when there is fibrous continuity between the leaflets of the atrioventricular and arterial valves. In this review, we show how attention to the morphology of the channel between the ventricles now provides the key to accurately diagnose the ventriculo-arterial connection in patients with suspected double-outlet right ventricle. This is because, when both arterial trunks arise exclusively or predominantly from the morphologically right ventricle, the outlet septum, of necessity, is itself a right ventricular structure. The channel between the ventricles, therefore, is roofed by the inner heart curvature, whether that structure is fibrous or muscular. Our observations then confirm that it is the attachment of the outlet septum, which itself can be muscular or fibrous, which determines the commitment of the

  3. Assessment of sistemic ventricle function in corrected transposition of great arteries with Gated SPECT: comparison with radionuclide ventriculography

    International Nuclear Information System (INIS)

    Alexanderson, E.; Espinola, N.; Duenas, D.; Fermon, S.; Acevedo, C.; Martinez, C.

    2002-01-01

    Corrected trasposition of great arteries is a uncommon congenital heart disease where the right ventricle works as the sistemic one. QGS Gated SPECT program was designed to recognize the contours of left ventricle being a good method to evaluate left ventricle ejection fraction. The purpose of this study was to evaluate the right ventricle ejection fraction (RVEF) by gated SPECT using Tc-99mSestaMIBI in comparison with radionuclide ventriculography (RVG) in patients with corrected trasposition of great arteries. Methods: We performed gated SPECT and radionuclide ventriculography within 15 days of each other in 7 adults consecutive patients with the diagnosis of corrected trasposition of great arteries (5 men, 2 women; mean age 47 y). Gated tomographic data, including ventricular volumes and ejection fraction, were processed using QGS automatic algorithm, whereas equilibrium radionuclide ventriculography used standard techniques. Results: We found a good correlation between right ventricle ejection fraction obtained with Gated SPECT compared with equilibrium radionuclide ventriculography. The mean of the RVEF with Gated SPECT was 41.2% compared with 44.2% of RVEF with equilibrium radionuclide ventriculography. Both methods recognized abnormal RVEF in 5 patients ( 50%) with Gated SPECT and abnormal with RVG meanwhile another patient had normal RVEF with RVG and abnormal with Gated SPECT. Conclusion: Quantitative gated tomography, using Tc 99mSestaMIBI, has a good correlation with radionuclide ventriculography for the assessment of right ventricle ejection fraction in patients with corrected trasposition of great arteries. These results support the clinical use of this technique among these patients

  4. Radionuclide methods for right ventricle diagnosis; Diagnostyka radioizotopowa prawej komory serca

    Energy Technology Data Exchange (ETDEWEB)

    Zaorska-Rajca, J.

    1993-12-31

    Four radionuclide methods that are used to assess the right ventricle have been discussed in this paper: first-pass angiocardiography, gated equilibrium ventriculography with red blood cells labelled in vivo technetium-{sup 99m}Tc, ventriculography with radioactive xenon 133 and a computerized single probe. Advantages and disadvantages of using each method have been discussed. RNV 99mTc method has been recognized as the best one to evaluate RV function. Assessment of the right ventricle function has been carried out using global parameters: ejection fraction (global RVEF), first ejection fraction (RVWEF), average ejection rate (RVER), average filling rate (RVFR) and one-third filling fraction. The same parameters have been determined for the left ventricle. RVWEF and RVEF demonstrate the highest sensitiveness in diagnosing abnormal RV function, whereas RVWFF and RVFR show the lowest one. Assessment of the right ventricle regional function has been carried out using parametric scans of amplitude and phase and an analysis of histogram phase, taking into consideration mean concentration phase and standard deviation from mean phase. Results of the right ventricle assessment in patients have been discussed in the following clinical groups: chronic cor pulmonale (CP), chronic lung disease without pulmonary arterial hypertension (LD), coronary artery disease (CAD), in patients after infarction (IMa and IMi), dilated cardiomyopathy (KZ) and valvular heart diseases (Wm and Wa). The highest abnormality in right ventricle function occurs in patients with KZ, CP, IMi and Wm, the lowest one - in patients with CAD. Abnormalities are higher in patients with congestive heart failure. (author). 385 refs, 47 figs, 8 figs.

  5. Magnetic resonance imaging of the brain in congenital cytomegalovirus infection

    Energy Technology Data Exchange (ETDEWEB)

    Boesch, C.; Issakainen, J.; Kewitz, G.; Kikinis, R.; Martin, E.; Boltshauser, E.

    1989-01-01

    The children (age 2 months to 8 years) with a congenital cytomegalovirus (CMV) infection were studied by magnetic resonance imaging (MRI) using a 2.35 Tesla magnet. CMV infection was confirmed by serological investigations and virus culture in the neonatal period. Nine children had severe mental retardation and cerebral palsy, 1 patient suffered from microcephaly, ataxia and deafness. The cranial MRI examination showed the following abnormalities (N): Dilated lateral ventricles (10) and subarachnoid space (8), oligo/pacgyria (8), delayed/pathological myelination (7), paraventricular cysts (6), intra-cerebral calcification (1). This lack of sensitivity for calcification is explainable by the basic principles of MRI. The paraventricular cystic lesions were adjacent ot the occipital horns of the lateral ventricles and separated only by a thin membrane. This finding might represent a 'new sign' for congenital CMV infection in MRI examinations, being characteristic but nevertheless nonspecific, like calcification in CT.

  6. Magnetic resonance imaging of the brain in congenital cytomegalovirus infection

    International Nuclear Information System (INIS)

    Boesch, C.; Issakainen, J.; Kewitz, G.; Kikinis, R.; Martin, E.; Boltshauser, E.

    1989-01-01

    The children (age 2 months to 8 years) with a congenital cytomegalovirus (CMV) infection were studied by magnetic resonance imaging (MRI) using a 2.35 Tesla magnet. CMV infection was confirmed by serological investigations and virus culture in the neonatal period. Nine children had severe mental retardation and cerebral palsy, 1 patient suffered from microcephaly, ataxia and deafness. The cranial MRI examination showed the following abnormalities (N): Dilated lateral ventricles (10) and subarachnoid space (8), oligo/pacgyria (8), delayed/pathological myelination (7), paraventricular cysts (6), intra-cerebral calcification (1). This lack of sensitivity for calcification is explainable by the basic principles of MRI. The paraventricular cystic lesions were adjacent ot the occipital horns of the lateral ventricles and separated only by a thin membrane. This finding might represent a 'new sign' for congenital CMV infection in MRI examinations, being characteristic but nevertheless nonspecific, like calcification in CT. (orig.)

  7. The tricuspid valve in adult congenital heart disease.

    Science.gov (United States)

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

    2014-01-01

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

  8. Radiological imaging of congenital hand anomalies - a 6-year single-centre experience and what the hand surgeons want to know

    Energy Technology Data Exchange (ETDEWEB)

    Gerety, E.L.; Hopper, M.A. [Cambridge University Hospitals NHS Foundation Trust, Department of Radiology, Cambridge (United Kingdom); Grant, I. [Cambridge University Hospitals NHS Foundation Trust, Department of Plastic Surgery, Cambridge (United Kingdom)

    2014-12-19

    Congenital hand anomalies present a rare but important physical and emotional challenge for children and parents. Radiological imaging is important for accurate diagnosis, to aid decision making and to monitor changes in the growing hand. The goal of any treatment is to help the child achieve his/her maximum potential, to provide a useful hand with attention to cosmesis. We investigated the range of congenital hand anomalies imaged in a tertiary referral centre. We examined the timing of imaging and the key clinical questions. The radiology imaging system was searched retrospectively for radiographs of congenital hand anomalies over a 6-year period. The images were reviewed and patient demographics, diagnosis and other imaging recorded. Over 6 years, 85 patients had imaging. Twenty-three patients had bilateral problems and 11 had recognised syndromes. The most common abnormalities imaged were duplicated thumbs (28 %), followed by syndactyly (18 %). Children were first imaged as early as 1 day old, with the median age of initial imaging 12 months. Thumb duplication and syndactyly are the most common conditions for which radiographs are requested at our hospital, although overall syndactyly is considered the most common congenital hand anomaly. For a variety of reasons, children are often imaged very early, before review by the Specialist in Children's Hand Surgery (despite surgery being unlikely before 1 year of age.) We discuss the classification systems and specific issues that hand surgeons want to know from the radiologists. (orig.)

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

    Science.gov (United States)

    Tweddell, James S; Hoffman, George M

    2002-01-01

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

  10. Impact of the International Quality Improvement Collaborative on outcomes after congenital heart surgery: a single center experience in a developing economy.

    Science.gov (United States)

    Balachandran, Rakhi; Kappanayil, Mahesh; Sen, Amitabh Chanchal; Sudhakar, Abhish; Nair, Suresh G; Sunil, G S; Raj, R Benedict; Kumar, Raman Krishna

    2015-01-01

    The International Quality Improvement Collaborative (IQIC) for Congenital Heart Surgery in Developing Countries was initiated to decrease mortality and major complications after congenital heart surgery in the developing world. We sought to assess the impact of IQIC on postoperative outcomes after congenital heart surgery at our institution. The key components of the IQIC program included creation of a robust worldwide database on key outcome measures and nurse education on quality driven best practices using telemedicine platforms. We evaluated 1702 consecutive patients ≤18 years undergoing congenital heart surgery in our institute from January 2010-December 2012 using the IQIC database. Preoperative variables included age, gender, weight at surgery and surgical complexity as per the RACHS-1 model. The outcome variables included, in- hospital mortality, duration of ventilation, intensive care unit (ICU) stay, bacterial sepsis and surgical site infection. The 1702 patients included 771(45.3%) females. The median age was 8 months (0.03-216) and the median weight was 6.1Kg (1-100). The overall in-hospital mortality was 3.1%, Over the three years there was a significant decline in bacterial sepsis (from 15.1%, to 9.6%, P < 0.001), surgical site infection (11.1% to 2.4%, P < 0.001) and duration of ICU stay from 114(8-999) hours to 72 (18-999) hours (P < 0.001) The decline in mortality from (4.3% to 2.2%) did not reach statistical significance. The inclusion of our institution in the IQIC program was associated with improvement in key outcome measures following congenital heart surgery over a three year period.

  11. Impact of the International Quality Improvement Collaborative on outcomes after congenital heart surgery: A single center experience in a developing economy

    Directory of Open Access Journals (Sweden)

    Rakhi Balachandran

    2015-01-01

    Full Text Available Background: The International Quality Improvement Collaborative (IQIC for Congenital Heart Surgery in Developing Countries was initiated to decrease mortality and major complications after congenital heart surgery in the developing world. Objective: We sought to assess the impact of IQIC on postoperative outcomes after congenital heart surgery at our institution. Methods: The key components of the IQIC program included creation of a robust worldwide database on key outcome measures and nurse education on quality driven best practices using telemedicine platforms. We evaluated 1702 consecutive patients ≤18 years undergoing congenital heart surgery in our institute from January 2010-December 2012 using the IQIC database. Preoperative variables included age, gender, weight at surgery and surgical complexity as per the RACHS-1 model. The outcome variables included, in- hospital mortality, duration of ventilation, intensive care unit (ICU stay, bacterial sepsis and surgical site infection. Results: The 1702 patients included 771(45.3% females. The median age was 8 months (0.03-216 and the median weight was 6.1Kg (1-100. The overall in-hospital mortality was 3.1%, Over the three years there was a significant decline in bacterial sepsis (from 15.1%, to 9.6%, P < 0.001, surgical site infection (11.1% to 2.4%, P < 0.001 and duration of ICU stay from 114(8-999 hours to 72 (18-999 hours (P < 0.001 The decline in mortality from (4.3% to 2.2% did not reach statistical significance. Conclusions: The inclusion of our institution in the IQIC program was associated with improvement in key outcome measures following congenital heart surgery over a three year period.

  12. Variation in growth of infants with a single ventricle.

    Science.gov (United States)

    Anderson, Jeffrey B; Iyer, Srikant B; Schidlow, David N; Williams, Richard; Varadarajan, Kartik; Horsley, Megan; Slicker, Julie; Pratt, Jesse; King, Eileen; Lannon, Carole

    2012-07-01

    The study goal was to evaluate interstage growth variation among sites participating in the National Pediatric Cardiology Quality Improvement Collaborative registry caring for infants with hypoplastic left heart syndrome and to identify nutritional practices common among sites achieving best growth outcomes. This was a retrospective analysis of infants in the registry who had presented due to their superior cavopulmonary connection (SCPC) and whose surgical site had enrolled ≥ 4 eligible patients in the registry. The primary outcome variable was weight-for-age z-score (WAZ) change between Norwood discharge and presentation for SCPC (interstage period). Blinded, structured interviews were performed with each site regarding site-specific nutritional practices. Practices common among sites with positive interstage WAZ changes were identified. Sixteen centers enrolled 132 infants from December 2008 through December 2010. Median age at SCPC was 5 months (2.6-12.6), and median interstage WAZ change was -0.29 (-3.2 to 2.3). Significant variation in WAZ changes among sites was demonstrated (P < .001). Sites that used standard feeding evaluation prior to Norwood discharge and that closely monitored for specific weight gain/loss red flags in the interstage period demonstrated significantly better patient growth than those that did not use these practices (P = .002). Considerable variation exists in interstage growth among patients receiving care at these 16 surgical sites. Standardization of interstage nutritional management with focus on best nutritional practices may lead to improved growth in this high-risk population of infants. Copyright © 2012 Mosby, Inc. All rights reserved.

  13. Passive and active ventricular elastances of the left ventricle

    Directory of Open Access Journals (Sweden)

    Ng Eddie YK

    2005-02-01

    Full Text Available Abstract Background Description of the heart as a pump has been dominated by models based on elastance and compliance. Here, we are presenting a somewhat new concept of time-varying passive and active elastance. The mathematical basis of time-varying elastance of the ventricle is presented. We have defined elastance in terms of the relationship between ventricular pressure and volume, as: dP = EdV + VdE, where E includes passive (Ep and active (Ea elastance. By incorporating this concept in left ventricular (LV models to simulate filling and systolic phases, we have obtained the time-varying expression for Ea and the LV-volume dependent expression for Ep. Methods and Results Using the patient's catheterization-ventriculogram data, the values of passive and active elastance are computed. Ea is expressed as: ; Epis represented as: . Ea is deemed to represent a measure of LV contractility. Hence, Peak dP/dt and ejection fraction (EF are computed from the monitored data and used as the traditional measures of LV contractility. When our computed peak active elastance (Ea,max is compared against these traditional indices by linear regression, a high degree of correlation is obtained. As regards Ep, it constitutes a volume-dependent stiffness property of the LV, and is deemed to represent resistance-to-filling. Conclusions Passive and active ventricular elastance formulae can be evaluated from a single-beat P-V data by means of a simple-to-apply LV model. The active elastance (Ea can be used to characterize the ventricle's contractile state, while passive elastance (Ep can represent a measure of resistance-to-filling.

  14. Congenital amusia.

    Science.gov (United States)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

    For most people, music, like language, is acquired effortlessly in early life. But a few percent of the population have lifelong difficulties in the perception and production of music. In this chapter we discuss psycho-acoustic and behavioral studies that have attempted to delineate the nature of the auditory perceptual deficits in this group and consider whether these difficulties extend outside the musical domain. Finally, we review structural imaging studies in this group which point to subtle anomalies in temporal and frontal areas. We suggest that amusia can be considered a disorder of neural development, which has relatively specific consequences at the behavioral level. Studies of congenital amusia provide a unique window on the neurocognitive architecture of music processing. Copyright © 2013 Elsevier B.V. All rights reserved.

  15. MRI of congenital urethroperineal fistula

    International Nuclear Information System (INIS)

    Ghadimi-Mahani, Maryam; Dillman, Jonathan R.; Pai, Deepa; DiPietro, Michael; Park, John

    2010-01-01

    We present the MRI features of a congenital urethroperineal fistula diagnosed in a 12-year-old boy being evaluated after a single urinary tract infection. This diagnosis was initially suggested by voiding cystourethrogram and confirmed by MRI. Imaging revealed an abnormal fluid-filled tract arising from the posterior urethra and tracking to the perineal skin surface that increased in size during micturition. Surgical resection and histopathological evaluation of the abnormal tract confirmed the diagnosis of congenital urethroperineal fistula. MRI played important roles in confirming the diagnosis and assisting surgical planning. (orig.)

  16. MRI of congenital urethroperineal fistula

    Energy Technology Data Exchange (ETDEWEB)

    Ghadimi-Mahani, Maryam; Dillman, Jonathan R.; Pai, Deepa; DiPietro, Michael [C. S. Mott Children' s Hospital, Department of Radiology, Section of Pediatric Radiology, University of Michigan Health System, Ann Arbor, MI (United States); Park, John [C. S. Mott Children' s Hospital, Department of Pediatric Urology, University of Michigan Health System, Ann Arbor, MI (United States)

    2010-12-15

    We present the MRI features of a congenital urethroperineal fistula diagnosed in a 12-year-old boy being evaluated after a single urinary tract infection. This diagnosis was initially suggested by voiding cystourethrogram and confirmed by MRI. Imaging revealed an abnormal fluid-filled tract arising from the posterior urethra and tracking to the perineal skin surface that increased in size during micturition. Surgical resection and histopathological evaluation of the abnormal tract confirmed the diagnosis of congenital urethroperineal fistula. MRI played important roles in confirming the diagnosis and assisting surgical planning. (orig.)

  17. 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.

  18. Management of a Congenitally Missing Lateral Incisor with Orthodontics, Bone Grafting (a New Method and Single-Tooth Implant: A Case Report

    Directory of Open Access Journals (Sweden)

    Hamid Reza Arab

    2014-03-01

    Full Text Available Careful treatment planning, space management, augmentation of bone and attention to the details of implant surgical and prosthetic techniques are important factors when treating anterior maxilla specially replacement of missing teeth. This case report addresses a chair-side ridge augmentation procedure using autograft bone harvested with trephine drills and placed without using screws and the fundamental considerations related to replacement of a congenitally missing lateral incisor by a team approach

  19. COMPUTER MODELING IN THE DEVELOPMENT OF ARTIFICIAL VENTRICLES OF HEART

    Directory of Open Access Journals (Sweden)

    L. V. Belyaev

    2011-01-01

    Full Text Available In article modern researches of processes of development of artificial ventricles of heart are described. Advanta- ges of application computer (CAD/CAE technologies are shown by development of artificial ventricles of heart. The systems developed with application of the given technologies are submitted. 

  20. Flow Topology in the Right Ventricle after Tetralogy of Fallot Repair

    Science.gov (United States)

    Mikhail, Amanda; Kadem, Lyes; di Labbio, Giuseppe

    2016-11-01

    Among all of the known congenital heart defects, Tetralogy of Fallot (TOF) is the most common cyanotic defect, accounting for 5% of all detected defects. Approximately 1 in 2518 births will result with TOF, leading to about 1657 cases per year in the United States alone. All of those affected will need surgical repair in order to have a relatively normal life and longer life span. Unfortunately, pulmonary regurgitation (PR) has been observed to appear two to three decades after the initial operation in 50% of operated cases. PR results in abnormal flow patterns in the right ventricle, which are currently poorly understood. In this experimental study, several severities of pulmonary regurgitation were simulated on a newly developed right ventricle using a cardiovascular simulator. The interaction between the tricuspid valve inflow and the pulmonary regurgitation was investigated using Time-resolved particle image velocimetry (TR-PIV). PR resulted in a turbulent jet that disturbed the optimal filling of the RV. Energy losses and viscous shear stresses were observed to significantly increase with the severity of PR. This study can contribute towards a better understanding of the suboptimal performance in patients with repaired TOF.

  1. [Congenital hypothyroidism].

    Science.gov (United States)

    Castilla Peón, María Fernanda

    Congenital hypothyroidism (CH) is a cause of preventable mental retardation; therefore, timely diagnosis and treatment by the primary care physician is very important. CH screening must be performed between the second and fifth days of life with capillary blood done with a heel prick and must be confirmed by measurement of thyroid hormones in venous blood. The most common cause of CH is thyroid dysgenesis, which may be identified by a thyroid scan carried out before initiating treatment. Treatment should be with levothyroxine (10-15μg/kg/day) and should not be delayed or suspended during the first 3 years of life due to the deleterious effect on neurodevelopment in case of low thyroid hormones during this time. Preterm or sick infants or those with Down syndrome require special consideration. This article provides diagnostic and therapeutic algorithms for CH. Copyright © 2015 Hospital Infantil de México Federico Gómez. Publicado por Masson Doyma México S.A. All rights reserved.

  2. Imaging congenital heart disease in adults.

    Science.gov (United States)

    Kilner, P J

    2011-12-01

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

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

    Science.gov (United States)

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

    2014-08-01

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

  4. Successful cardiac transplantation outcomes in patients with adult congenital heart disease.

    Science.gov (United States)

    Menachem, Jonathan N; Golbus, Jessica R; Molina, Maria; Mazurek, Jeremy A; Hornsby, Nicole; Atluri, Pavan; Fuller, Stephanie; Birati, Edo Y; Kim, Yuli Y; Goldberg, Lee R; Wald, Joyce W

    2017-09-01

    The purpose of our study is (1) to characterise patients with congenital heart disease undergoing heart transplantation by adult cardiac surgeons in a large academic medical centre and (2) to describe successful outcomes associated with our multidisciplinary approach to the evaluation and treatment of adults with congenital heart disease (ACHD) undergoing orthotopic heart transplantation (OHT). Heart failure is the leading cause of death in patients with ACHD leading to increasing referrals for OHT. The Penn Congenital Transplant Database comprises a cohort of patients with ACHD who underwent OHT between March 2010 and April 2016. We performed a retrospective cohort study of the 20 consecutive patients. Original cardiac diagnoses include single ventricle palliated with Fontan (n=8), dextro-transposition of the great arteries after atrial switch (n=4), tetralogy of Fallot (n=4), pulmonary atresia (n=1), Ebstein anomaly (n=1), unrepaired ventricular septal defect (n=1) and Noonan syndrome with coarctation of the aorta (n=1). Eight patients required pretransplant inotropes and two required pretransplant mechanical support. Nine patients underwent heart-liver transplant and three underwent heart-lung transplant. Three patients required postoperative mechanical circulatory support. Patients were followed for an average of 38 months as of April 2016, with 100% survival at 30 days and 1 year and 94% overall survival (19/20 patients). ACHD-OHT patients require highly specialised, complex and multidisciplinary healthcare. The success of our programme is attributed to using team-based, patient-centred care including our multidisciplinary staff and specialists across programmes and departments. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  5. Shunt Failure-Risk Factors and Outcomes: An Analysis of The Society of Thoracic Surgeons Congenital Heart Surgery Database.

    Science.gov (United States)

    Do, Nhue; Hill, Kevin D; Wallace, Amelia S; Vricella, Luca; Cameron, Duke; Quintessenza, James; Goldenberg, Neil; Mavroudis, Constantine; Karl, Tom; Pasquali, Sara K; Jacobs, Jeffrey P; Jacobs, Marshall L

    2018-03-01

    Systemic-to-pulmonary shunt failure is a potentially catastrophic complication. We analyzed a large multicenter clinical registry to describe the prevalence and evaluate risk factors. Infants (aged ≤365 days) undergoing shunt operations (systemic artery-to-pulmonary artery or systemic ventricle-to-pulmonary artery) in The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) from 2010 to 2015 were included. Multivariable logistic regression was used to evaluate risk factors for in-hospital shunt failure. Model covariates included patient characteristics, preoperative factors, procedural factors including shunt type, and center effects. Centers with more than 15% missing data for key covariates were excluded. Shunt operations were performed in 9,172 infants (118 centers). In-hospital shunt failure occurred in 674 (7.3%). In multivariable analysis, risk factors for in-hospital shunt failure included lower weight at operation (odds ratio [OR], 1.35; p = 0.001), preoperative hypercoagulable state (OR, 2.47; p = 0.031), and the presence of any other STS-CHSD preoperative risk factors (OR, 1.24; p = 0.038). Shunt failure was less likely with a systemic ventricle-to-pulmonary artery shunt than a systemic artery-to-pulmonary artery shunt (OR, 0.65; p = 0.020). Neither cardiopulmonary bypass nor single-ventricle diagnosis was a risk factor for shunt failure. Patients with in-hospital shunt failure had significantly higher rates of operative mortality (31.9% vs 11.1%, p failure is common, and associated mortality risk is high. These data highlight at-risk patients and procedural cohorts that warrant expectant surveillance and may benefit from enhanced antithrombotic prophylaxis or other management strategies to reduce shunt failure. These findings may inform planning of future clinical trials. Copyright © 2018 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  6. Left Ventricle Pseudoaneurysm: Contribution of Multimodality Imaging to the Diagnosis

    Directory of Open Access Journals (Sweden)

    Ellenga Mbolla Bertrand Fikahem

    2014-01-01

    Full Text Available The left ventricle pseudoaneurysm is an anomaly of the left ventricle and is severed and joined with a pocket look. There may be secondary to a myocardial infarction, trauma, or surgical procedure. Sometimes the cause is not found. Complications are heart failure, arrhythmias, vascular embolism, and sudden death. The treatment is surgical only. The authors report the case of a black patient of 64 years old, without medical history, had seen to a deformation of the cardiac shadow in radiography. The left ventricle pseudoaneurysm and in situ thrombus are visualized in echocardiography and CT scan. The patient is waiting for heart surgery.

  7. Congenital heart disease

    Science.gov (United States)

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

  8. Gestational and congenital syphilis.

    Science.gov (United States)

    Wendel, G D

    1988-06-01

    The frequency of congenital syphilis continues to increase throughout the United States during the 1980s. Untreated maternal infection can lead to stillbirth, premature labor, congenital infection, and neonatal death. Preventive measures, based on control of early syphilis in women, prenatal care, improved diagnosis and diligent followup, can help to decrease the incidence of congenital syphilis. The clinical presentation and recommended regimens for therapy of the gravida with syphilis and neonates with suspected congenital syphilis are reviewed.

  9. Management of Congenitally Missing Lateral Incisor

    Directory of Open Access Journals (Sweden)

    Nidhi Kedia

    2011-01-01

    Full Text Available Multiple treatment options are available to patients who have congenitally missing teeth. Management options for the treatment of missing teeth can include the following: (1 Orthodontic space closure and adjacent tooth substitution, (2 autotransplantation, (3 prosthetic replacement with resin-bonded fixed partial dentures, conventional fixed partial dentures and single-tooth implants. In this case report, treatment of a patient with congenitally missing maxillary right lateral incisor will be presented.

  10. Why the Left Ventricle Is Not a Sphere

    Directory of Open Access Journals (Sweden)

    Felix A. Blyakhman

    2004-01-01

    Full Text Available In this study, we have tried to understand why the left ventricle (LV is not a homogeneous sphere. An experimental model of a spherical ventricle was developed. The chamber was configured as a mathematical model, and the wall properties were represented by isolated cardiac muscles. The stroke work of the spherical LV when modelling different types of inhomogeneity in the wall structure was investigated. It was found that the emergence of even slight inhomogeneity in a spherical ventricle inevitably results in a diminution of pump function. It was concluded that at a given level of the myocardial contractility, a homogeneous spherical LV would not have any functional reserve, ie no ability to maintain pump function in case of additional load. Functional reserve can be achieved only with a certain degree of inhomogeneity. Thus, inhomogeneity in the normal left ventricular wall structure constitutes a strategic functional reserve that is absent in a homogeneous spherical ventricle.

  11. An isolated fourth ventricle in neurosarcoidosis: MRI findings

    Energy Technology Data Exchange (ETDEWEB)

    Hesselmann, Volker; Terstegge, Klaus; Schulte, Oliver; Krug, Barbara; Lackner, Klaus [Department of Radiology, University of Cologne, Joseph Stelzmann Strasse 9, 50924 Cologne (Germany); Wedekind, Christoph [Department of Neurosurgery, University of Cologne, Joseph Stelzmann Strasse 9, 50924 Cologne (Germany); Voges, Juergen [Department of Stereotaxy und Functional Neurosurgery, University of Cologne, Joseph Stelzmann Strasse 9, 50924 Cologne (Germany)

    2002-07-01

    We report on an isolated enlargement of the fourth ventricle in a patient with neurosarcoidosis which developed 3 years after the insertion of a ventriculo-atrial shunt. Repeated MRI images were obtained in a patient with known neurosarcoidosis between 1995 and 2000. Imaging findings were correlated to the medical course of the patient, who developed a hydrocephalus and a trapped fourth ventricle consecutively. The isolation was presumably due to granulomatous inflammation of the ependyma surrounding the fourth ventricular outlets. The isolated fourth ventricle was responsible for a deterioration of neurological status. Neurosarcoidosis is a severe complication in sarcoidosis patients. An isolated enlargement of the fourth ventricle is a rare complication in clinically deteriorated patients with neurosarcoidosis and ventricular drainage, which may require neurosurgical treatment. (orig.)

  12. Selective scanning of the right ventricle with the ultrashort-lived isotope krypton-81m

    International Nuclear Information System (INIS)

    Horn, M.; Witztum, K.; Neveu, C.; Perkins, G.

    1985-01-01

    The measurement of right ventricular function using /sup 99m/Tc gated blood-pool imaging is hampered by the difficulty in separating the right ventricle from the left heart as well as from the right atrium. Krypton-81m, an ultrashort-lived isotope (t/sub 1/2/, 13 sec) with a single 190-keV gamma ray, can be infused into the venous circulation to yield stable count rates over the right heart. The authors have developed a technique for delivering a continuous infusion of /sup 81m/Kr via an antecubital vein for gated right ventricle (RV) equilibrium studies. Preliminary rest studies have been performed in 15 normal subjects ranging in age from 23 to 62 years. Right-heart structures including the right atrium, tricuspid valve, right ventricle, pulmonic valve, and pulmonary outflow tract are clearly identifiable. Essentially no counts are present over the left heart. RV ejection fractions in this group averaged 48.3 (+/- 5.7)%. Changes in pulmonary blood flow distribution from supine to upright position, which may be an index of pulmonary arterial pressures, are also easily demonstrated

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

    Science.gov (United States)

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

    2017-08-01

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

  14. Fluid Distribution Pattern in Adult-Onset Congenital, Idiopathic, and Secondary Normal-Pressure Hydrocephalus: Implications for Clinical Care.

    Science.gov (United States)

    Yamada, Shigeki; Ishikawa, Masatsune; Yamamoto, Kazuo

    2017-01-01

    In spite of growing evidence of idiopathic normal-pressure hydrocephalus (NPH), a viewpoint about clinical care for idiopathic NPH is still controversial. A continuous divergence of viewpoints might be due to confusing classifications of idiopathic and adult-onset congenital NPH. To elucidate the classification of NPH, we propose that adult-onset congenital NPH should be explicitly distinguished from idiopathic and secondary NPH. On the basis of conventional CT scan or MRI, idiopathic NPH was defined as narrow sulci at the high convexity in concurrent with enlargement of the ventricles, basal cistern and Sylvian fissure, whereas adult-onset congenital NPH was defined as huge ventricles without high-convexity tightness. We compared clinical characteristics and cerebrospinal fluid distribution among 85 patients diagnosed with idiopathic NPH, 17 patients with secondary NPH, and 7 patients with adult-onset congenital NPH. All patients underwent 3-T MRI examinations and tap-tests. The volumes of ventricles and subarachnoid spaces were measured using a 3D workstation based on T2-weighted 3D sequences. The mean intracranial volume for the patients with adult-onset congenital NPH was almost 100 mL larger than the volumes for patients with idiopathic and secondary NPH. Compared with the patients with idiopathic or secondary NPH, patients with adult-onset congenital NPH exhibited larger ventricles but normal sized subarachnoid spaces. The mean volume ratio of the high-convexity subarachnoid space was significantly less in idiopathic NPH than in adult-onset congenital NPH, whereas the mean volume ratio of the basal cistern and Sylvian fissure in idiopathic NPH was >2 times larger than that in adult-onset congenital NPH. The symptoms of gait disturbance, cognitive impairment, and urinary incontinence in patients with adult-onset congenital NPH tended to progress more slowly compared to their progress in patients with idiopathic NPH. Cerebrospinal fluid distributions and

  15. 3D MR ventricle segmentation in pre-term infants with post-hemorrhagic ventricle dilation

    Science.gov (United States)

    Qiu, Wu; Yuan, Jing; Kishimoto, Jessica; Chen, Yimin; de Ribaupierre, Sandrine; Chiu, Bernard; Fenster, Aaron

    2015-03-01

    Intraventricular hemorrhage (IVH) or bleed within the brain is a common condition among pre-term infants that occurs in very low birth weight preterm neonates. The prognosis is further worsened by the development of progressive ventricular dilatation, i.e., post-hemorrhagic ventricle dilation (PHVD), which occurs in 10-30% of IVH patients. In practice, predicting PHVD accurately and determining if that specific patient with ventricular dilatation requires the ability to measure accurately ventricular volume. While monitoring of PHVD in infants is typically done by repeated US and not MRI, once the patient has been treated, the follow-up over the lifetime of the patient is done by MRI. While manual segmentation is still seen as a gold standard, it is extremely time consuming, and therefore not feasible in a clinical context, and it also has a large inter- and intra-observer variability. This paper proposes a segmentation algorithm to extract the cerebral ventricles from 3D T1- weighted MR images of pre-term infants with PHVD. The proposed segmentation algorithm makes use of the convex optimization technique combined with the learned priors of image intensities and label probabilistic map, which is built from a multi-atlas registration scheme. The leave-one-out cross validation using 7 PHVD patient T1 weighted MR images showed that the proposed method yielded a mean DSC of 89.7% +/- 4.2%, a MAD of 2.6 +/- 1.1 mm, a MAXD of 17.8 +/- 6.2 mm, and a VD of 11.6% +/- 5.9%, suggesting a good agreement with manual segmentations.

  16. Intraoperative Stenting of Pulmonary Artery Stenosis in Children With Congenital Heart Disease.

    Science.gov (United States)

    Meot, Mathilde; Lefort, Bruno; El Arid, Jean Marc; Soulé, Nathalie; Lothion-Boulanger, Julie; Lengellé, François; Chantepie, Alain; Neville, Paul

    2017-07-01

    Branch pulmonary artery (BPA) stenosis is frequently associated with congenital heart disease. Management of BPA stenosis is challenging for surgeons due to a high rate of recurrence. The purpose of this study was to assess the results of intraoperative pulmonary artery stenting associated with or without surgical angioplasty. We included 33 children from our center between January 2008 and July 2014. Patients had pulmonary atresia with ventricular septal defect (13), tetralogy of Fallot (10), troncus arteriosus (4), double outlet right ventricle (2), and single left or right ventricle (4). A total of 44 balloon-expandable stents (mean diameter, 9.5 mm; range, 4 to 16 mm) were deployed in left or right PA under direct visualization, without the use of fluoroscopy, after branch angioplasty for 28 of them (64%). The mean age at surgery was 4.3 ± 4.3 years (range, 6 days to 15 years) and the mean weight was 14.3 ± 11.9 kg (range, 2.8 to 63 kg). Postoperative mortality was 9% (3 patients), but only 1 death was related to the stenting procedure. Twenty-five patients underwent angiographic control after a mean follow-up of 22 months after surgery. All stents were well positioned. The mean stented BPA Z-score increased from -2.6 ± 1.8 to -0.4 ± 1.6 (p < 0.0001). Eleven patients experienced intrastent proliferation (44%). Among them, 2 patients required a reoperation for severe intrastent stenosis, whereas the 9 others had mild intrastent neointimal proliferation, which was successfully managed by balloon expansion. Intraoperative stenting of BPA is a safe and effective option to treat BPA stenosis and prevent recurrence. Copyright © 2017 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  17. Outcomes of Tracheostomy in Children Requiring Surgery for Congenital Heart Disease.

    Science.gov (United States)

    Ortmann, Laura A; Manimtim, Winston M; Lachica, Charisse I

    2017-02-01

    Outcomes after discharge in children requiring tracheostomy after cardiac surgery have not been fully described. A retrospective, single-center study was performed on all children tracheostomy and surgery for congenital heart disease from January 2002 to May 2015. Forty-six tracheostomies were placed after surgery and four before. Single-ventricle anatomy was present in 12 (33%) patients. Incidence of tracheostomy after heart surgery increased from 0.8% the first half of the study period to 2% the second half. Median time between cardiac surgery and tracheostomy was 58 days. The most common indication for tracheostomy was multifactorial (30%) followed by airway malacia (22%). Median length to follow-up for survivors was 3.9 years (range 0.4-11.8 years). Survival to hospital discharge was 72%, and intermediate survival was 48%. Survival in those with systemic to pulmonary artery shunts at the time of tracheostomy was 22% compared to 59% for those with biventricular anatomy. Heart failure and multiple indications for tracheostomy were associated with worse outcome. There was no difference in survival for those discharged with a ventilator compared to those that were not. The most common cause of death after discharge was tracheostomy tube dislodgement/obstruction, accounting for 5 of 11 that died. Survival with a tracheostomy after cardiac surgery is poor, and children with systemic to pulmonary artery shunts are at especially high risk of death.

  18. Prevalence of buried probe in complex congenital nasolacrimal duct obstruction and evaluation of its success rate post 'probing and irrigation': a single-centre retrospective study.

    Science.gov (United States)

    Gupta, Nishi; Chawla, Neeraj; Ganesh, Suma; Das, Sima; Dhawan, Nidhi; Bansal, Smriti; Singla, Poonam

    2018-02-05

    The aim of this study was to determine the prevalence of buried probe variant of complex congenital nasolacrimal duct obstruction (CNLDO) and to evaluate the outcome of probing and irrigation in such cases. Institutional review board approval was taken. A total of 309 eyes (258 patients) were diagnosed with CNLDO during the study period of January 2014-March 2017. A retrospective file review of 25 lacrimal systems of 20 patients diagnosed as buried probe variant of complex CNLDO was carried out during the study period. Buried probe variant of complex CNLDO was found to be 8% of the total CNLDO cases during the study period. Mean age at presentation was 1.7 years (range 8-48 months). Discharge and matting of eyelashes were the presenting symptoms in 22 out of 25 (88%) cases, whereas the only epiphora was the presenting symptom in three (12%) cases. Regurgitation of mucopurulent discharge on pressure over lacrimal sac area was positive in 16 out of 25 (64%) eyes. Associated lacrimal and nasal pathologies were seen in six out of 25 cases (24%). Success rate in buried probe variant cases of CNLDO in our study at 3-month follow-up was 88% (22 of 25 cases). A high period prevalence of 8% out of all CNLDO cases in our study suggests that the buried probe should be considered in selective cases of CNLDO and earlier unsuccessful probing.

  19. Spectrum of Congenital Heart Diseases in Eastern Nepal: A tertiary care hospital experience

    Directory of Open Access Journals (Sweden)

    Prashant Shah

    2017-01-01

    Full Text Available Background & Objectives: Congenital heart diseases are neglected especially in world’s poorest nations and appear to be ignored and unexplored dimension of health. The exact prevalence and spectrum of congenital heart diseases in Nepal is largely unknown. The aim of this study was to describe the local experience on the magnitude and the pattern of congenital heart disease in order to increase the awareness of the public and health policy makers on its burden in Nepal.Materials & Methods: This is an observational hospital based study carried out in a tertiary care hospital in Eastern Nepal. The duration of this study was from April 2015 to July 2016. The echocardiography reports of all patients clinically suspected of having congenital heart disease were retrieved, and their diagnostic details were extracted. Only patients of day one of life to 14 years of age were included. Congenital heart diseases like bicuspid aortic valve, mitral valve prolapse and various inherited cardiomyopathies were excluded.Results: A total of 330 echocardiograms were performed for clinically suspected congenital heart disease.  The mean age of study population was 22.31±34.08 months with male to female ratio of 1.2:1. 23% of clinically suspected congenital heart disease cases turned out to have normal echocardiography. Acyanotic congenital heart disease was most common (81.5% followed by cyanotic congenital heart disease (14.2% and obstructive congenital heart disease (4.3%. Atrial septal defect was found to be the most common form of acyanotic congenital heart disease (52% which was followed by ventricular septal defect (28.8% and patent ductus arteriosus (14.8%. Tetralogy of Fallot and double outlet right ventricle were the most common form of cyanotic CHD representing 44.4% of all cyanotic patients. Pulmonary stenosis was the most common obstructive congenital heart disease observed in this study population (63.6%. Rarer entities, like d-transposition of great

  20. Multiple Congenital Epulis of the Mandibular Ridge: A Case Report

    Directory of Open Access Journals (Sweden)

    Mohammad Gharavi

    2011-01-01

    Full Text Available Congenital epulis is a very rare benign soft-tissue tumor of uncertain histogenesis, which is also known as “gingival granular cell tumor of the newborn”. It occurs almost exclusively as a single tumor along the alveolar ridge of the maxilla in newborn females. Although congenital epulis is strikingly similar to the more common adult granular cell tumor histologically, in contrast to the latter congenital epulis cells are negative for S-100 protein. This case report describes a 15-day-old female infant with multiple congenital epulis of the mandibular alveolar ridge.

  1. Cytomegalovirus Congenital Cataract

    Directory of Open Access Journals (Sweden)

    Ridha Wahyutomo

    2011-06-01

    Full Text Available Cytomegalovirus congenital infection is an infection caused by the the subfamily â Herpesviridae, during pregnancy. The incidence of infections among newborn infants is 1 %. One of the effects of congenitally acquired infection is the congenital cataract. A 6-year-old child complained to have a blurred vision diagnosed with cytomegalovirus congenital cataract. The diagnosis was confirmed by a positive serology testing for Ig M and Ig G CMV. The laboratory test using Giemsa staining to find inclusion bodies and a faster PCR could not be carried out (Sains Medika, 3(1:84-88.

  2. Prenatal Detection of Congenital Heart Diseases: One-Year Survey Performing a Screening Protocol in a Single Reference Center in Brazil

    Directory of Open Access Journals (Sweden)

    Luciane Alves Rocha

    2014-01-01

    Full Text Available Objective. To describe the experience of a tertiary center in Brazil to which patients are referred whose fetuses are at increased risk for congenital heart diseases (CHDs. Methods. This was a cross-sectional observational study. The data was collected prospectively, during the year 2012, through a screening protocol of the fetal heart adapted from the International Society of Ultrasound in Obstetrics and Gynecology (ISUOG guideline. We performed a fetal echocardiogram screening for all pregnant women who were referred to the fetal cardiology outpatient obstetrics clinic of a university hospital. The exams were classified as normal or abnormal. The cases considered abnormal were undergone to a postnatal echocardiogram. We categorized the abnormal fetal heart according to severity in “complex,” “significant,” “minor,” and “others.” Results. We performed 271 fetal heart screening. The incidence of abnormal screenings was 9.96% (27 fetuses. The structural CHD when categorized due to severity showed 48.1% (n=13 of “complex” cases, 18.5% (n=5 “significant” cases, and 7.4% (n=2 “minor” cases. The most common referral reason was by maternal causes (67% followed by fetal causes (33%. The main referral indication was maternal metabolic disease (30%, but there was just one fetus with CHD in such cases (1.2%. CHDs were found in 19/29 fetuses with suspicion of some cardiac abnormality by obstetrician (65.5%. Conclusion. We observed a high rate of CHD in our population. We also found that there was higher incidence of complex cases.

  3. Array Comparative Genomic Hybridization as the First-line Investigation for Neonates with Congenital Heart Disease: Experience in a Single Tertiary Center.

    Science.gov (United States)

    Choi, Bo Geum; Hwang, Su Kyung; Kwon, Jung Eun; Kim, Yeo Hyang

    2018-03-01

    The purpose of the present study was to investigate the advantages and disadvantages of verifying genetic abnormalities using array comparative genomic hybridization (a-CGH) immediately after diagnosis of congenital heart disease (CHD). Among neonates under the age of 28 days who underwent echocardiography from January 1, 2014 to April 30, 2016, neonates whose chromosomal and genomic abnormalities were tested using a-CGH in cases of an abnormal finding on echocardiography were enrolled. Of the 166 patients diagnosed with CHD, 81 underwent a-CGH and 11 patients (11/81, 13.5%) had abnormal findings on a-CGH. 22q11.2 deletion syndrome was the most common (4/11, 36.4%). On the first a-CGH, 4 patients were negative (4/81, 5%). Three of them were finally diagnosed with Williams syndrome using fluorescent in situ hybridization (FISH), 1 patient was diagnosed with Noonan syndrome through exome sequencing. All of them exhibited diffuse pulmonary artery branch hypoplasia, as well as increased velocity of blood flow, on repeated echocardiography. Five patients started rehabilitation therapy at mean 6 months old age in outpatient clinics and epilepsy was diagnosed in 2 patients. Parents of 2 patients (22q11.2 deletion syndrome and Patau syndrome) refused treatment due to the anticipated prognosis. Screening tests for genetic abnormalities using a-CGH in neonates with CHD has the advantage of early diagnosis of genetic abnormality during the neonatal period in which there is no obvious symptom of genetic abnormality. However, there are disadvantages that some genetic abnormalities cannot be identified on a-CGH. Copyright © 2018. The Korean Society of Cardiology.

  4. Genetics Home Reference: congenital hypothyroidism

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions Congenital hypothyroidism Congenital hypothyroidism Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Congenital hypothyroidism is a partial or complete loss of function ...

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

    Science.gov (United States)

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2017-04-01

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

  6. Mitochondrial disorders in congenital myopathies

    Directory of Open Access Journals (Sweden)

    D. A. Kharlamov

    2014-01-01

    Full Text Available The literature review gives data on the role of mitochondrial disorders in the pathogenesis of congenital myopathies: congenital muscular dystrophies and congenital structural myopathies. It describes changes in congenital muscular dystrophies with type VI collagen, in myodystrophy with giant mitochondria, in congenital central core myopathies, myotubular myopathy, etc. Clinical and experimental findings are presented. Approaches to therapy for energy disorders in congenital myopathies are depicted.

  7. Management of labour and delivery in congenitally corrected transposition of great arteries.

    Science.gov (United States)

    Dhir, S; Racine, J; Gratton, R; Bergin, L; de Vrijer, B

    2015-11-01

    A descriptive case report of the labour and delivery management of a 28-year-old woman who presented with congenitally corrected transposition of great arteries, dextrocardia, systemic ventricular dysfunction and junctional tachycardia. Patients with congenitally corrected transposition have a thin-walled morphological right ventricle as the systemic circulatory pump. The stress of increased cardiac output can lead to congestive heart failure, systemic atrioventricular valve regurgitation and arrhythmias. We used minimally invasive continuous cardiac output monitoring, fluid balance optimization and good maternal pain control to prevent decompensation and achieve vaginal delivery with a good maternal and neonatal outcome. © 2015 The Acta Anaesthesiologica Scandinavica Foundation. Published by John Wiley & Sons Ltd.

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

    International Nuclear Information System (INIS)

    Suarez N, Alberto; Carvajal, Andres; Bustillo, Sabas

    2008-01-01

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

  9. Cardiac T1 mapping in congenital heart disease: bolus vs. infusion protocols for measurements of myocardial extracellular volume fraction.

    Science.gov (United States)

    Al-Wakeel-Marquard, Nadya; Rastin, Sanaz; Muench, Frédéric; O H-Ici, Darach; Yilmaz, Sevim; Berger, Felix; Kuehne, Titus; Messroghli, Daniel R

    2017-12-01

    Myocardial extracellular volume fraction (ECV) reflecting diffuse myocardial fibrosis can be measured with T1 mapping cardiovascular magnetic resonance (CMR) before and after the application of a gadolinium-based extracellular contrast agent. The equilibrium between blood and myocardium contrast concentration required for ECV measurements can be obtained with a primed contrast infusion (equilibrium contrast-CMR). We hypothesized that equilibrium can also be achieved with a single contrast bolus to accurately measure diffuse myocardial fibrosis in patients with congenital heart disease (CHD). Healthy controls (n = 17; median age 24.0 years) and patients with CHD (n = 19; 25.0 years) were prospectively enrolled. Using modified Look-Locker inversion recovery T1 mapping before, 15 min after bolus injection, and during constant infusion of gadolinium-DOTA, T1 values were obtained for blood pool and myocardium of the left ventricle (LV), the interventricular septum (IVS), and the right ventricle (RV) in a single midventricular plane in short axis or in transverse orientation. ECV of LV, IVS and RV by bolus-only and bolus-infusion correlated significantly in CHD patients (r = 0.94, 0.95, and 0.74; p < 0.01, respectively) and healthy controls (r = 0.96, 0.89, and 0.64; p < 0.05, respectively). Bland-Altman plots revealed no significant bias between the techniques for any of the analyzed regions. ECV of LV and RV myocardium measured by bolus-only T1 mapping agrees well with bolus-infusion measurements in patients with CHD. The use of a bolus-only approach facilitates the integration of ECV measurements into existing CMR imaging protocols, allowing for assessment of diffuse myocardial fibrosis in CHD in clinical routine.

  10. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

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

    2001-01-01

    Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...

  11. Congenital heat disease

    International Nuclear Information System (INIS)

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

    1990-01-01

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

  12. Current Knowledge and Recent Advances of Right Ventricular Molecular Biology and Metabolism from Congenital Heart Disease to Chronic Pulmonary Hypertension.

    Science.gov (United States)

    Guimaron, Samantha; Guihaire, Julien; Amsallem, Myriam; Haddad, François; Fadel, Elie; Mercier, Olaf

    2018-01-01

    Studies about pulmonary hypertension and congenital heart diseases have introduced the concept of right ventricular remodeling leading these pathologies to a similar outcome: right ventricular failure. However right ventricular remodeling is also a physiological process that enables the normal fetal right ventricle to adapt at birth and gain its adult phenotype. The healthy mature right ventricle is exposed to low pulmonary vascular resistances and is compliant. However, in the setting of chronic pressure overload, as in pulmonary hypertension, or volume overload, as in congenital heart diseases, the right ventricle reverts back to a fetal phenotype to sustain its function. Mechanisms include angiogenic changes and concomitant increased metabolic activity to maintain energy production. Eventually, the remodeled right ventricle cannot resist the increased afterload, leading to right ventricular failure. After comparing the fetal and adult healthy right ventricles, we sought to review the main metabolic and cellular changes occurring in the setting of PH and CHD. Their association with RV function and potential impact on clinical practice will also be discussed.

  13. Association of Prenatal Diagnosis of Critical Congenital Heart Disease With Postnatal Brain Development and the Risk of Brain Injury.

    Science.gov (United States)

    Peyvandi, Shabnam; De Santiago, Veronica; Chakkarapani, Elavazhagan; Chau, Vann; Campbell, Andrew; Poskitt, Kenneth J; Xu, Duan; Barkovich, A James; Miller, Steven; McQuillen, Patrick

    2016-04-01

    The relationship of prenatal diagnosis of critical congenital heart disease (CHD) with brain injury and brain development is unknown. Given limited improvement of CHD outcomes with prenatal diagnosis, the effect of prenatal diagnosis on brain health may reveal additional benefits. To compare the prevalence of preoperative and postoperative brain injury and the trajectory of brain development in neonates with prenatal vs postnatal diagnosis of CHD. Cohort study of term newborns with critical CHD recruited consecutively from 2001 to 2013 at the University of California, San Francisco and the University of British Columbia. Term newborns with critical CHD were studied with brain magnetic resonance imaging preoperatively and postoperatively to determine brain injury severity and microstructural brain development with diffusion tensor imaging by measuring fractional anisotropy and the apparent diffusion coefficient. Comparisons of magnetic resonance imaging findings and clinical variables were made between prenatal and postnatal diagnosis of critical CHD. A total of 153 patients with transposition of the great arteries and single ventricle physiology were included in this analysis. The presence of brain injury on the preoperative brain magnetic resonance imaging and the trajectory of postnatal brain microstructural development. Among 153 patients (67% male), 96 had transposition of the great arteries and 57 had single ventricle physiology. The presence of brain injury was significantly higher in patients with postnatal diagnosis of critical CHD (41 of 86 [48%]) than in those with prenatal diagnosis (16 of 67 [24%]) (P = .003). Patients with prenatal diagnosis demonstrated faster brain development in white matter fractional anisotropy (rate of increase, 2.2%; 95% CI, 0.1%-4.2%; P = .04) and gray matter apparent diffusion coefficient (rate of decrease, 0.6%; 95% CI, 0.1%-1.2%; P = .02). Patients with prenatal diagnosis had lower birth weight (mean, 3184.5 g; 95% CI, 3050

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

    Science.gov (United States)

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

    2017-04-01

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

  15. Design and Implementation of a Prospective Adult Congenital Heart Disease Biobank.

    Science.gov (United States)

    Opotowsky, Alexander R; Loukas, Brittani; Ellervik, Christina; Moko, Lilamarie E; Singh, Michael N; Landzberg, Elizabeth I; Rimm, Eric B; Landzberg, Michael J

    2016-11-01

    Adults with congenital heart disease (ACHD) comprise a growing, increasingly complex population. The Boston Adult Congenital Heart Disease Biobank is a program for the collection and storage of biospecimens to provide a sustainable resource for scientific biomarker investigation in ACHD. We describe a protocol to collect, process, and store biospecimens for ACHD or associated diagnoses developed based on existing literature and consultation with cardiovascular biomarker epidemiologists. The protocol involves collecting urine and ∼48.5 mL of blood. A subset of the blood and urine undergoes immediate clinically relevant testing. The remaining biospecimens are processed soon after collection and stored at -80°C as aliquots of ethylenediaminetetraacetic acid (EDTA) and lithium heparin plasma, serum, red cell and buffy coat pellet, and urine supernatant. Including tubes with diverse anticoagulant and clot accelerator contents will enable flexible downstream use. Demographic and clinical data are entered into a database; data on biospecimen collection, processing, and storage are managed by an enterprise laboratory information management system. Since implementation in 2012, we have enrolled more than 650 unique participants (aged 18-80 years, 53.3% women); the Biobank contains over 11,000 biospecimen aliquots. The most common primary CHD diagnoses are single ventricle status-post Fontan procedure (18.8%), repaired tetralogy of Fallot with pulmonary stenosis or atresia (17.6%), and left-sided obstructive lesions (17.5%). We describe the design and implementation of biospecimen collection, handling, and storage protocols with multiple levels of quality assurance. These protocols are feasible and reflect the size and goals of the Boston ACHD Biobank. © The Author(s) 2016.

  16. Five-year follow-up two-dimensional speckle tracking echocardiography in a juvenile with a double-chambered left ventricle.

    Science.gov (United States)

    Harada, Kenji; Mori, Kazuhiro; Ichimiya, Chiyo; Terada, Naho; Iima, Tsutomu; Harada, Takafumi; Fujisawa, Kazutoshi; Kawata, Atsushi; Okada, Ayumi; Yamamoto, Hirofumi; Fujinaga, Hiroyuki

    2017-05-01

    Double-chambered left ventricle (DCLV) is a particularly rare congenital entity characterized by the presence of two ventricular cavities separated by an abnormal muscle band. An asymptomatic 15-year-old boy was referred to our hospital because of electrocardiographic (ECG) abnormalities. His initial transthoracic echocardiography (TTE) demonstrated a DCLV with mild left ventricular systolic dysfunction. During a 5-year follow-up period, he remained symptom free with no changes in ECG and conventional TTE findings. However, two-dimensional speckle tracking echocardiography revealed a subtle progressive deterioration of left ventricular systolic function during the 5-year follow-up. © 2017, Wiley Periodicals, Inc.

  17. Early prenatal detection of double outlet right ventricle by echocardiography

    NARCIS (Netherlands)

    Stewart, P. A.; Wladimiroff, J. W.; Becker, A. E.

    1985-01-01

    A double outlet right ventricle with subpulmonary ventricular septal defect and right sided hypoplastic aorta was diagnosed in a 22 week fetus of a mother with diabetes mellitus. Elective termination of pregnancy was carried out and the echocardiographic findings were confirmed. Early prenatal

  18. Triple outlet right ventricle: a previously unknown cardiac malformation.

    Science.gov (United States)

    Tingo, Jennifer E; Carroll, Sheila J; Crystal, Matthew A

    2015-03-01

    We present the case of an infant with three distinct outflow tracts from the right ventricle. Three outlets from the heart have been previously named the "Tritruncal Heart". We review the two previously reported cases of tritruncal hearts and describe the anatomy, diagnosis, surgical management, and outcome of our case. Embryologic implications are also discussed.

  19. Visuospatial processing in adolescents with critical congenital heart disease: Organization, integration, and implications for academic achievement.

    Science.gov (United States)

    Bean Jaworski, Jessica L; White, Matthew T; DeMaso, David R; Newburger, Jane W; Bellinger, David C; Cassidy, Adam R

    2018-05-01

    Among the most significant factors affecting quality of life in individuals with critical congenital heart disease (CCHD) are neurodevelopmental challenges, including deficits in visuospatial processing and academic achievement. Few studies have compared outcomes across CCHD subgroups, despite their significant differences in anatomy/physiology and medical/surgical courses. This study compared visuospatial processing abilities using the Developmental Scoring System for the Rey-Osterrieth Complex Figure (DSS-ROCF) across groups of adolescents with CCHD (d-transposition of the great arteries [TGA, n = 139], Tetralogy of Fallot [TOF, n = 68], single-ventricle cardiac anatomy requiring the Fontan operation [SVF, n = 145]) and a group of healthy controls (CTR, n = 111), and examined the validity of visuospatial processing in predicting concurrent academic outcomes. The CCHD subgroups were found to differ in Organization, ps academic skills, all CCHD groups scored lower than the CTR group, ps ≤ .007; however, the CCHD groups were not different from each other, ps > .23. The regression results showed that the DSS-ROCF Style rating (reflecting integration) accounted for a small yet statistically significant portion of unique variance in "assembled" academic outcomes, over and above the variance already accounted for by DSS-ROCF Organization, p increase their risk for academic underachievement.

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

    Directory of Open Access Journals (Sweden)

    Tenilson Amaral Oliveira

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

  1. Proper Orthogonal Decomposition and Dynamic Mode Decomposition in the Right Ventricle after Repair of Tetralogy of Fallot

    Science.gov (United States)

    Mikhail, Amanda; Kadem, Lyes; di Labbio, Giuseppe

    2017-11-01

    Tetralogy of Fallot accounts for 5% of all cyanotic congenital heart defects, making it the most predominant today. Approximately 1660 cases per year are seen in the United States alone. Once repaired at a very young age, symptoms such as pulmonary valve regurgitation seem to arise two to three decades after the initial operation. Currently, not much is understood about the blood flow in the right ventricle of the heart when regurgitation is present. In this study, the interaction between the diastolic interventricular flow and the regurgitating pulmonary valve are investigated. This experimental work aims to simulate and characterize this detrimental flow in a right heart simulator using time-resolved particle image velocimetry. Seven severities of regurgitation were simulated. Proper Orthogonal Decomposition (POD) and Dynamic Mode Decomposition (DMD) revealed intricate coherent flow structures. With regurgitation severity, the modal energies from POD are more distributed among the modes while DMD reveals more unstable modes. This study can contribute to the further investigation of the detrimental effects of right ventricle regurgitation.

  2. Catheter ablation of three macroreentrant atrial tachycardias after surgical repair of Double-Outlet Right Ventricle

    Directory of Open Access Journals (Sweden)

    Tadashi Wada

    2012-06-01

    Full Text Available A 54-year-old man with a surgically repaired double-outlet right ventricle (DORV presented with palpitations and worsening right heart failure. His 12-lead ECG showed atrial tachycardia (AT with an atrial cycle length (CL of 300 ms and an inverted saw-tooth F-wave pattern in the inferior leads II, III, and aVF typical of atrial flutter. Electrophysiological study and radiofrequency catheter ablation were performed. A total of 3 sustained ATs (AT1–AT3 were induced. Using the electroanatomical mapping system, CARTO3, and conventional mapping techniques, the ATs were identified as macroreentrant tachycardias circling around an incisional line on the free wall of the right atrium (AT1, the tricuspid annulus (AT2, and low voltage area in the lateral wall including the right septum (AT3. Accuracy of CARTO3 in three-dimensional reconstruction was sufficient to elucidate anatomical features (including catheter sites, incision, and low voltage areas and macroreentrant circuits. However, conventional mapping techniques were also necessary to identify the mechanism of the tachycardias, and therefore to eliminate all of them successfully. This case demonstrates that the use of combined conventional and electroanatomical mapping techniques, such as CARTO3, can be helpful in identifying the critical isthmus for catheter ablation of macroreentrant AT in patients with surgically corrected congenital heart disease (CHD.

  3. Automatic 4D segmentation of the left ventricle in cardiac-CT-data

    Science.gov (United States)

    Fritz, Dominik; Kroll, Julia; Dillmann, Rüdiger; Scheuering, Michael

    2007-03-01

    The manual segmentation and analysis of 4D high resolution multi slice cardiac CT datasets is both labor intensive and time consuming. Therefore, it is necessary to supply the cardiologist with powerful software tools, to segment the myocardium and the cardiac cavities in all cardiac phases and to compute the relevant diagnostic parameters. In recent years there have been several publications concerning the segmentation and analysis of the left ventricle (LV) and myocardium for a single phase or for the diagnostically most relevant phases, the enddiastole (ED) and the endsystole (ES). However, for a complete diagnosis and especially of wall motion abnormalities, it is necessary to analyze not only the motion endpoints ED and ES, but also all phases in-between. In this paper a novel approach for the 4D segmentation of the left ventricle in cardiac-CT-data is presented. The segmentation of the 4D data is divided into a first part, which segments the motion endpoints of the cardiac cycle ED and ES and a second part, which segments all phases in-between. The first part is based on a bi-temporal statistical shape model of the left ventricle. The second part uses a novel approach based on the individual volume curve for the interpolation between ED and ES and afterwards an active contour algorithm for the final segmentation. The volume curve based interpolation step allows the constraint of the subsequent segmentation of the phases between ED and ES to very small search-intervals, hence makes the segmentation process faster and more robust.

  4. Unusual right ventricle aneurysm and dysplastic pulmonary valve with mitral valve hypoplasia

    Directory of Open Access Journals (Sweden)

    Ozge Pamukcu

    2013-01-01

    Full Text Available We report a newborn with an unusual combination of aneurysmally dilated thin-walled right ventricle with hypertrophy of the apical muscles of the right ventricle. There was narrow pulmonary annulus, pulmonary regurgitation, and hypoplasia of the mitral valve and left ventricle. We propose that this heart represents a partial form of Uhl`s anomaly.

  5. Congenital Ocular Motor Apraxia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2007-06-01

    Full Text Available The clinical and neuroradiological findings, and long-term intellectual prognosis in 10 patients (4 boys and 6 girls with congenital ocular motor apraxia (COMA are reviewed by researchers at Tottori University, Yonago, Japan.

  6. Congenital pulmonary vein stenosis.

    Science.gov (United States)

    Manzar, Shabih

    2007-06-01

    A case of a newborn infant is described who presented with severe cyanosis at birth with rapid deterioration. The infant died at six hours of life. The diagnosis was determined at autopsy as congenital pulmonary vein stenosis.

  7. Congenital anterior urethral diverticulum

    International Nuclear Information System (INIS)

    Jung, Hyun Sub; Chung, Young Sun; Suh, Chee Jang; Won, Jong Jin

    1985-01-01

    Two cases of congenital anterior urethral diverticular which have occurred in a 4 year old and one month old boy are presented. Etiology, diagnostic procedures, and its clinical results are briefly reviewed

  8. Congenital orbital teratoma

    Directory of Open Access Journals (Sweden)

    Shereen Aiyub

    2013-01-01

    Full Text Available We present a case of mature congenital orbital teratoma managed with lid-sparing exenteration and dermis fat graft. This is a case report on the management of congenital orbital teratoma. A full-term baby was born in Fiji with prolapsed right globe which was surrounded by a nonpulsatile, cystic mass. Clinical and imaging features were consistent with congenital orbital teratoma. Due to limited surgical expertise, the patient was transferred to Adelaide, Australia for further management. The patient underwent a lid-sparing exenteration with frozen section control of the apical margin. A dermis fat graft from the groin was placed beneath the lid skin to provide volume. Histopathology revealed mature tissues from each of the three germ cell layers which confirmed the diagnosis of mature teratoma. We describe the successful use of demis fat graft in socket reconstruction following lid-sparing exenteration for congenital orbital teratoma.

  9. Giant congenital nevus

    Science.gov (United States)

    ... nevus; Giant hairy nevus; Giant pigmented nevus; Bathing trunk nevus; Congenital melanocytic nevus - large ... the spine) Involvement of the membranes of the brain and spinal cord when the nevus affects a ...

  10. Identification of congenital deafblindness

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2012-01-01

    For many reasons an accurate and straightforward identification of congenital deafblindness can be difficult. This article reports on the assessment procedures and experience in Denmark where medical examinations were combined with functional assessments performed through direct observation. The ...

  11. Congenital chylous ascites

    International Nuclear Information System (INIS)

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

    2011-01-01

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

  12. Congenital laryngeal anomalies,

    OpenAIRE

    Rutter, Michael J.

    2014-01-01

    Introduction: It is essential for clinicians to understand issues relevant to the airway management of infants and to be cognizant of the fact that infants with congenital laryngeal anomalies are at particular risk for an unstable airway. Objectives: To familiarize clinicians with issues relevant to the airway management of infants and to present a succinct description of the diagnosis and management of an array of congenital laryngeal anomalies. Methods: Revision article, in which the ma...

  13. Congenital gluteus maximus contracture.

    Science.gov (United States)

    Ganel, A; Blankstein, A

    1989-01-01

    Muscle contractures are infrequent in Israel. This report discusses one case of a congenital contracture associated with a skin dimple treated in Israel. A 3-year-old boy presented with difficulty in running, riding a bicycle, and squatting. Flexion of the right hip in adduction was impossible. The hip could be fully flexed in abduction. Congenital contracture of the right gluteus maximus muscle was successfully treated by surgical release.

  14. The role of 3D printing in preoperative planning for heart transplantation in complex congenital heart disease.

    Science.gov (United States)

    Smith, M L; McGuinness, J; O'Reilly, M K; Nolke, L; Murray, J G; Jones, J F X

    2017-08-01

    The presence of a structural cardiac defect in the setting of dextrocardia is extremely rare. Graspable models allow enhanced appreciation of aberrant structures and vascular relations, particularly in rare and complex cases. This is the first case report of the use of a replica of a patients' anatomy to plan the surgical strategy in the setting of dextrocardia. We intend to demonstrate the benefit of three-dimensional printing to enhance preoperative planning in complex congenital heart disease undergoing heart transplantation. The anomalous structures encountered include situs inversus dextrocardia, transposition of the great vessels, a single atrium and a dilated double-outlet single right ventricle. Computed Tomography acquisition was performed with the use of ECG multiphase gating technology and contrast enhancement. The structures of interest were segmented and the generated 3D mesh was exported as a stereolithographic (STL) file. The model was printed on a Z-Corp 250 binder jetting printer. Post processing techniques were used to enhance model strength. Pre-operative 3D visualisation of the patients' anatomy allowed for a more comprehensive surgical strategy to be planned, thus reducing the intra-operative duration and cross-clamp time which are recognised to correlate with reduced patient morbidity. The ongoing advances in medical image procurement and 3D processing software and printing technology will continue to enhance preoperative planning and thereby improve patient care. We demonstrate the pivotal role played by such technologies in advancing spatial comprehension of complex aberrant anatomy.

  15. Radiological evaluation of double-outlet right ventricle - An analysis of cinecardioangiography in 44 cases -

    Energy Technology Data Exchange (ETDEWEB)

    Park, Cheong Hee; Yeon, Kyung Mo; Han, Man Chung [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1984-03-15

    Double-outlet right ventricle is defined as follows: both great arteries arise completely or nearly completely from the right ventricle; neither semilunar valve is in fibrous continuity with either atrioventricular valve; and usually a ventricular septal defect is present and the only outlet from the left ventricle. A total of 44 cases of double-outlet right ventricle is analyzed, in which cineangiocardiographies were done at the Department of Radiology, Seoul National University Hospital in recent 4 year and 6 months, with specific reference to the segmental combinations, the height of conus, the relationship of great arteries, the location of ventricular septal defects, and associated anomalies. The results were as follows; 1. Among 44 cases, 36 cases had normal cardiac position, 4 cases had dextrocardia with situs inversus 2 cases had dextrocardia with situs solitus, 1 case had levocardia with situs inversus, and another 1 case had mesocardia with situs ambiguus. 2. Segmental sets were [S,D,D] in 36 cases, [I,L,L] in 3 cases, [I,D,D] in 2 cases, [S,D,L], [S,L,L] and [A,D,D] in 1 case respectively. 3. All cases had bilateral conus. Aortic valve rings were same level as pulmonary valve rings in 25 cases, lower than pulmonary valve rings in 17 cases in which 15 cases were type A., and higher than pulmonary valve rings in 2 cases. 4. The relation of the great arteries were normal in 15 cases, side-by-side in 13 cases, dextromalposition in 13 cases, and levomal position in 3 cases. 5. The position of the ventricular septal defects with respect to the origins of the great arteries is subaortic (type A and type B) in 23 cases, subpulmonary (type C) in 13 cases, doubly committed (type D) in 3 cases, and uncommitted (type E) in 5 cases. 6. Associated cardiac malformations are pulmonary stenosis in 24 which had all cases of type A and type E, aortic stenosis in 6 which were only in type C, left SVC in 6, abnormality of atrioventricular valve in 5, single coronary artery

  16. Magnetic resonance findings in arrhythmogenic dysplasia of right ventricle

    International Nuclear Information System (INIS)

    Ramiro, E.; Villacastin, B. P.; Farre, J.

    1999-01-01

    To compare the magnetic resonance (MR) findings in patients with arrhythmogenic dysplasia of right ventricle (ADRV) with the images of right ventricle (RV) presenting normal morphology. Three groups of patients were studied by MR: a) a group of 20 healthy volunteers; b) 22 patients with ADRV diagnosed by other methods; and c) 11 patients presenting right ventricular tachycardia (VT) with no evidence of ADRV. When compared with the other two groups, the patients with ADRV were found to have an enlarged right atrium and RV, one wall of RV abnormally thin, changes in the myocardial signal and significant left ventricular involvement. MR is a noninvasive method that is useful in the assessment of RV dilation, ventricular wall thinning, deformities and sacculations and in the detection of changes in the myocardial MR signal produced by the replacement. It aids in the localization, characterization and quantification of morphological changes in RV. (Author) 36 refs

  17. Fifth ventricle: an unusual cystic lesion of the conus medullaris.

    Science.gov (United States)

    Liccardo, G; Ruggeri, F; De Cerchio, L; Floris, R; Lunardi, P

    2005-06-01

    Cystic dilatation of the fifth ventricle on its own is an extremely rare pathological event in adults whose pathogenesis is uncertain. The authors describe a personal case of 'fifth ventricle' and review the pertinent literature. To emphasize the importance of including the fifth ventricle in differential diagnosis of lesions of the conus medullaris to ensure proper treatment. Italy. A 30-year-old woman was referred to us for recurrent low back pain. The patient was assessed by clinical, electrophysiological (motor evoked potential, somatosensorial evoked potential and electromyography of the perineal and lower limb muscles) and urodynamic investigations as well as a magnetic resonance imaging (MRI) of the lumbar-sacral segment with and without gadolinium enhancement, subsequently extended to the entire vertebral column and brain. Follow-up consisted of periodic clinical evaluation and lumbar-sacral MRI after 1 and 2 years. General physical examination, electrophysiological and urodynamic investigations were all negative, confirming the subjective nature of the patient's symptoms. Lumbar-sacral MRI demonstrated the presence of a cyst lesion containing cerebrospinal fluid (CSF), which did not enhance after gadolinium, compatible with the diagnosis of the terminal ventricle. By extending the MRI investigation to the entire vertebral column and brain, it was possible to exclude an association with other malformations of the central nervous system. Clinical and radiological follow-up confirmed the nonevolutive nature of the lesion 1 and 2 years later. The lack of clinical symptoms and the stability of the radiological situation at 1 and 2 years follow-up motivated our choice of conservative treatment.

  18. Size of cerebral ventricles in 66 psychiatric patients.

    Science.gov (United States)

    van Boxel, P; Bridges, P K; Bartlett, J R; Trauer, T

    1978-12-01

    The routine air ventriculograms of 66 psychiatric patients, aged from 22 to 73 years, taken during the psychosurgical operation of stereotactic subcaudate tractotomy, were studied. Ventricular size was unrelated to progressive ageing, but a minority of patients over 60 years had abnormally large ventricles, not invariably associated with cognitive impairment on testing. Enlargement was associated with a clinical diagnosis of schizoaffective illness but not with past ECT.

  19. Automatic extraction of left ventricle in SPECT myocardial perfusion imaging

    International Nuclear Information System (INIS)

    Liu Li; Zhao Shujun; Yao Zhiming; Wang Daoyu

    1999-01-01

    An automatic method of extracting left ventricle from SPECT myocardial perfusion data was introduced. This method was based on the least square analysis of the positions of all short-axis slices pixels from the half sphere-cylinder myocardial model, and used a iterative reconstruction technique to automatically cut off the non-left ventricular tissue from the perfusion images. Thereby, this technique provided the bases for further quantitative analysis

  20. Cardiac performance correlates of relative heart ventricle mass in amphibians.

    Science.gov (United States)

    Kluthe, Gregory J; Hillman, Stanley S

    2013-08-01

    This study used an in situ heart preparation to analyze the power output and stroke work of spontaneously beating hearts of four anurans (Rhinella marina, Lithobates catesbeianus, Xenopus laevis, Pyxicephalus edulis) and three urodeles (Necturus maculosus, Ambystoma tigrinum, Amphiuma tridactylum) that span a representative range of relative ventricle mass (RVM) found in amphibians. Previous research has documented that RVM correlates with dehydration tolerance and maximal aerobic capacity in amphibians. The power output (mW g(-1) ventricle mass) and stroke work (mJ g(-1) ventricle muscle mass) were independent of RVM and were indistinguishable from previously published results for fish and reptiles. RVM was significantly correlated with maximum power output (P max, mW kg(-1) body mass), stroke volume, cardiac output, afterload pressure (P O) at P max, and preload pressure (P I) at P max. P I at P max and P O at P max also correlated very closely with each other. The increases in both P I and P O at maximal power outputs in large hearts suggest that concomitant increases in blood volume and/or increased modulation of vascular compliance either anatomically or via sympathetic tone on the venous vasculature would be necessary to achieve P max in vivo. Hypotheses for variation in RVM and its concomitant increased P max in amphibians are developed.

  1. Congenital hypogonadotropic hypogonadism, functional hypogonadotropism or constitutional delay of growth and puberty? An analysis of a large patient series from a single tertiary center.

    Science.gov (United States)

    Varimo, Tero; Miettinen, Päivi J; Känsäkoski, Johanna; Raivio, Taneli; Hero, Matti

    2017-01-01

    What diagnoses underlie delayed puberty (DP) and predict its outcome? A multitude of different diagnoses underlie DP, and in boys a history of cryptorchidism, small testicular size and slow growth velocity (GV) predict its clinical course. DP is caused by a variety of underlying etiologies. Hormonal markers can be used in the differential diagnosis of DP but none of them have shown complete diagnostic accuracy. Medical records of 589 patients evaluated for DP in a single tertiary care center between 2004 and 2014 were retrospectively reviewed. Clinical and biochemical data of 174 boys and 70 girls who fulfilled the criteria of DP were included in the analyses. We characterized the frequencies of underlying conditions and evaluated the predictive efficacy of selected clinical and hormonal markers. Thirty etiologies that underlie DP were identified. No markers of clinical value could be identified in the girls, whereas a history of cryptorchidism in the boys was associated with an increase in the risk of permanent hypogonadism (odds ratio 17.2 (95% CI; 3.4-85.4, P hypogonadism were more frequent in boys with a GV below 3 cm/yr than in those growing faster (19% vs 4%, P hypogonadism (CHH) were testicular volume (cut-off 1.1 ml with a sensitivity of 100% and a specificity of 91%), GnRH-induced maximal LH (cut-off 4.3 IU/L; 100%, 75%) and basal inhibin B (INHB) level (cut-off 61 ng/L; 90%, 83%). The main limitation of the study is the retrospective design. Prior cryptorchidism and slow GV are two important clinical cues that may help clinicians to predict the clinical course of DP in boys, whereas markers of similar value could not be identified in girls. In prepubertal boys, testicular size appeared as effective as INHB and GnRH-induced LH levels in the differential diagnosis between CHH and CDGP. This study was supported by the Academy of Finland (268356), Foundation for Pediatric Research (7495), Sigrid Juselius Foundation (2613) and the Finnish Medical Foundation

  2. Preliminary assessment and diagnosis of congenital discrete subaortic stenosis by using electron beam CT

    International Nuclear Information System (INIS)

    Zhou Yuan; Dai Ruping; Cao Cheng; Jing Baolian

    2003-01-01

    Objective: To evaluate the clinical efficacy of EBCT in diagnosing the congenital discrete subaortic stenosis. Methods: Data of four patients with congenital discrete subaortic stenosis diagnosed by EBCT were retrospectively analyzed and further compared with that of surgery and histopathologic examination. Results: Contrast enhanced EBCT scanning clearly demonstrated both a direct non-opacified sign in subvalvular regions in all four patients' left ventricle and associated cardiovascular anomalies. Movie mode scanning showed the movement of aortic valve and 'discrete membrane', and revealed distinct topography of subaortic outflow tracts as well. Conclusion: EBCT is highly valuable in the diagnosis of congenital discrete subaortic stenosis and associated anomalies by clearly demonstrating the subaortic outflow tract topography and complicated cardiovascular malformations. EBCT could be a complementary examination to cardioangiography, and could replace the cineangiography in the follow-up after operation

  3. Treatment of congenital tuberculosis.

    Science.gov (United States)

    Patel, Sonal; DeSantis, Evelyn R Hermes

    2008-11-01

    The diagnosis and treatment of congenital tuberculosis are discussed. Congenital tuberculosis is rare and fatal if left untreated. If a pregnant woman with tuberculosis is not treated, infection of the fetus can occur by hematogenous spread through the umbilical cord or by aspiration or ingestion of amniotic fluid. Signs and symptoms of congenital tuberculosis may be nonspecific, which may preclude early diagnosis and treatment. Criteria for the diagnosis of congenital tuberculosis require the infant to have a tuberculous lesion, as indicated by chest radiography or granulomas, and at least one of the following should be confirmed: (1) onset during the first week of life, (2) primary hepatic tuberculosis complex or caseating hepatic granulomas, (3) infection of the placenta or maternal genital tract, or (4) exclusion of postnatal transmission by a contact investigation. Since 2001, 21 cases of congenital tuberculosis have been reported in English-language medical journals, with the age of presentation ranging from day 1 to 90. Based on findings from published case reports, congenital tuberculosis should be considered in the differential diagnosis of newborns who have (1) nonresponsive, worsening pneumonia, especially in regions with high rates of tuberculosis, (2) nonspecific symptoms but have a mother diagnosed with tuberculosis, (3) high lymphocyte counts in the cerebrospinal fluid without an identified bacterial pathogen, or (4) fever and hepatosplenomegaly. Once diagnosed, it is essential to promptly begin treatment with isoniazid, rifampin, pyrazinamide, and streptomycin in order to decrease the mortality associated with the infection. Early diagnosis and treatment during the neonatal period are crucial in minimizing the fatality associated with congenital tuberculosis.

  4. The association of congenital neuroblastoma and congenital heart disease

    International Nuclear Information System (INIS)

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

    1989-01-01

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

  5. Congenital malaria in China.

    Directory of Open Access Journals (Sweden)

    Zhi-Yong Tao

    2014-03-01

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

  6. Congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Singh, Anupam; Pandey, P K; Agrawal, Ajai; Mittal, Sanjeev Kumar; Rana, Kartik Maheshbhai; Bahuguna, Chirag

    2017-12-01

    The European Neuromuscular Centre (ENMC) derived the term Congenital Cranial Dysinnervation Disorders in 2002 at an international workshop for a group of congenital neuromuscular diseases. CCDDs are congenital, non-progressive ophthalmoplegia with restriction of globe movement in one or more fields of gaze. This group of sporadic and familial strabismus syndromes was initially referred to as the 'congenital fibrosis syndromes' because it was assumed that the primary pathologic process starts in the muscles of eye motility. Over the last few decades, evidence has accumulated to support that the primary pathologic process of these disorders is neuropathic rather than myopathic. This is believed that for normal development of extra ocular muscles and for preservation of muscle fiber anatomy, normal intra-uterine development of the innervation to these muscles is essential. Congenital dysinnervation to these EOMs can lead to abnormal muscle structure depending upon the stage and the extent of such innervational defects. Over last few years new genes responsible for CCDD have been identified, permitting a better understanding of associated phenotypes, which can further lead to better classification of these disorders. Introduction of high-resolution MRI has led to detailed study of cranial nerves courses and muscles supplied by them. Thus, due to better understanding of pathophysiology and genetics of CCDDs, various treatment modalities can be developed to ensure good ocular alignment and better quality of life for patients suffering from the same.

  7. The role of the Fontan operation in the treatment of congenitally corrected transposition of the great arteries

    Directory of Open Access Journals (Sweden)

    Tom R Karl

    2011-01-01

    Full Text Available Congenitally corrected transposition of the great arteries (ccTGA is a complex cardiac anomaly with an unfavorable natural history. Surgical treatment has been available for over 50 years. Initial procedures used for ccTGA did not correct atrio-ventricular discordance, leaving the right ventricle in systemic position. In the past two decades anatomic repair has been considered to be a better option. Many cases subjected to anatomic repairs would also be suitable for the Fontan strategy, which probably has a lower initial risk. The rationale for use of the Fontan operation in management of congenitally corrected transposition is discussed in this review, with comparisons to other strategies.

  8. Pulmonary hypertension in children with congenital heart disease (PAH-CHD, PPHVD-CHD). Expert consensus statement on the diagnosis and treatment of paediatric pulmonary hypertension. The European Paediatric Pulmonary Vascular Disease Network, endorsed by ISHLT and DGPK.

    Science.gov (United States)

    Kozlik-Feldmann, Rainer; Hansmann, Georg; Bonnet, Damien; Schranz, Dietmar; Apitz, Christian; Michel-Behnke, Ina

    2016-05-01

    Pulmonary arterial hypertension associated with congenital heart disease (PAH-CHD) is a complex disease that presents with a broad spectrum of morphological and haemodynamic findings of varying severity. Recently, the aspect of paediatric pulmonary hypertensive vascular disease (PPHVD) has been introduced to expand the understanding of the full spectrum of pulmonary hypertension and increased pulmonary vascular resistance. Evaluation and treatment of PAH-CHD/PPHVD-CHD can be divided into in different topics. First, defining criteria for operability and initiation of advanced therapies preoperatively and postoperatively is an unresolved issue. Second, management of Eisenmenger syndrome is still an important question, with recent evidence on the severity of the disease and a more rapidly progressive course than previously described. Third, the Fontan circulation with no subpulmonary ventricle requires a distinct discussion, definition and classification since even a mild rise in pulmonary vascular resistance may lead to the so-called failing Fontan situation. Patients with CHD and single-ventricle physiology (Fontan/total cavopulmonary anastomosis) require a particularly stepwise and individualised approach. This consensus statement is on the current evidence for the most accurate evaluation and treatment of increased pulmonary artery pressure and resistance, as well as ventricular dysfunction, in children with congenital heart defects, and provides according practical recommendations. To optimise preoperative and postoperative management in patients with PAH-CHD, diagnostic and treatment algorithms are provided. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  9. Amino-Terminal proB-Type Natriuretic Peptide Levels in the Umbilical Cord Blood of Neonates Differ According to the Type of Prenatally Diagnosed Congenital Heart Disease.

    Science.gov (United States)

    Bae, Jin Young; Cha, Hyun-Hwa; Seong, Won Joon

    2015-12-01

    The aim of this study was to investigate differences in amino-terminal proB-type natriuretic peptide (NT-proBNP) levels in the cord blood of neonates according to the type of congenital heart disease (CHD) and to evaluate the usefulness of NT-proBNP as a prognostic marker. We included 76 neonates with prenatally diagnosed CHD and 45 controls without CHD. Neonates were classified into five groups based on echocardiographic findings. The levels of NT-proBNP in the cord blood were examined and analyzed according to the neonatal outcomes. The levels of NT-proBNP were significantly elevated in the cord blood of neonates with CHD compared with that in the cord blood of controls. The levels of NT-proBNP in the group with right ventricular outflow tract obstruction without a ventricular septal defect were significantly increased compared to that in the other groups. The neonates that required acute surgical correction had higher levels of NT-proBNP in the cord blood, though they were not statistically significant. Meanwhile, NT-proBNP levels in the cord blood of neonates with functional single ventricle were significantly higher than that in the cord blood of those with functional biventricles. Significant differences in the levels of NT-proBNP between survivors and nonsurvivors were observed within 1 year of birth. In this study, we found that the levels of NT-proBNP in the cord blood of neonates with CHD were higher than the levels in controls. This finding was striking in the group with right ventricular outflow tract obstruction, and it was associated with surgery for functional single ventricle and 1-year survival.

  10. Congenital syphilis: literature review

    Directory of Open Access Journals (Sweden)

    Eduardo Chaida Sonda

    2013-01-01

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

  11. Congenital cataract screening

    Directory of Open Access Journals (Sweden)

    Zhale Rajavi

    2016-01-01

    Full Text Available Congenital cataract is a leading cause of visual deprivation which can damage the developing visual system of a child; therefore early diagnosis, management and long-term follow-up are essential. It is recommended that all neonates be screened by red reflex examination at birth and suspected cases be referred to ophthalmic centers. Early surgery (1 year is highly recommended. After surgery, amblyopia treatment and periodic follow-up examinations should be started as soon as possible to achieve a satisfactory visual outcome. Practitioners should consider the possibility of posterior capsular opacity, elevated intraocular pressure and amblyopia during follow-up, especially in eyes with microphthalmia and/or associated congenital anomalies. All strabismic children should undergo slit lamp examination prior to strabismus surgery to rule out congenital lens opacities. From a social point of view, equal and fair medical care should be provided to all children regardless of gender.

  12. Congenital optic nerve anomalies.

    Science.gov (United States)

    Martín-Begué, N; Saint-Gerons, M

    2016-12-01

    To update the current knowledge about congenital optic disc anomalies. A comprehensive literature search was performed in the major biomedical databases. Patients with these anomalies usually have poor vision in infancy. Refractive errors are common, and serous retinal detachment may develop in some of these anomalies. It is critically important to clinically differentiate between these congenital optic disc anomalies, as central nervous system malformations are common in some, whereas others may be associated with systemic anomalies. Congenital optic disc anomalies are a heterogeneous group of pathologies with characteristic fundus appearance and systemic associations. We should always try to make a correct diagnosis, in order to ask for specific tests, as well as to provide an adequate follow-up. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  13. Congenital and neonatal pneumonia.

    Science.gov (United States)

    Nissen, Michael D

    2007-09-01

    The greatest risk of death from pneumonia in childhood is in the neonatal period. It is estimated that pneumonia contributes to between 750000-1.2 million neonatal deaths annually, accounting for 10% of global child mortality. Congenital and neonatal pneumonias are often a difficult disease to identify and treat, with clinical manifestations often being non-specific. Many of the normal lung defences are compromised in the fetus and neonate, leading to an increased susceptibility to infection. The aetiology and epidemiology of congenital and neonatal pneumonias will depend on the clinical setting and population that the baby belongs to, the stage in the perinatal period, the gestational age of the baby and the definition of pneumonia. Diagnosis, treatment and prevention strategies are therefore also dependent on these factors, and will differ depending on the clinical setting. This review summarizes the current knowledge concerning congenital and neonatal pneumonia worldwide and discusses future directions in the prevention of the disease.

  14. Overview of adult congenital heart transplants

    Science.gov (United States)

    Morales, David

    2018-01-01

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

  15. Semiautomatic three-dimensional CT ventricular volumetry in patients with congenital heart disease: agreement between two methods with different user interaction.

    Science.gov (United States)

    Goo, Hyun Woo; Park, Sang-Hyub

    2015-12-01

    To assess agreement between two semi-automatic, three-dimensional (3D) computed tomography (CT) ventricular volumetry methods with different user interactions in patients with congenital heart disease. In 30 patients with congenital heart disease (median age 8 years, range 5 days-33 years; 20 men), dual-source, multi-section, electrocardiography-synchronized cardiac CT was obtained at the end-systolic (n = 22) and/or end-diastolic (n = 28) phase. Nineteen left ventricle end-systolic (LV ESV), 28 left ventricle end-diastolic (LV EDV), 22 right ventricle end-systolic (RV ESV), and 28 right ventricle end-diastolic volumes (RV EDV) were successfully calculated using two semi-automatic, 3D segmentation methods with different user interactions (high in method 1, low in method 2). The calculated ventricular volumes of the two methods were compared and correlated. A P value congenital heart disease, 3D CT ventricular volumetry shows good agreement and high correlation between the two methods, but method 2 tends to slightly underestimate LV ESV, LV EDV, and RV ESV.

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

    Science.gov (United States)

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

    2015-10-01

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

  17. Congenital Hemolytic Anemia.

    Science.gov (United States)

    Haley, Kristina

    2017-03-01

    Red blood cell (RBC) destruction can be secondary to intrinsic disorders of the RBC or to extrinsic causes. In the congenital hemolytic anemias, intrinsic RBC enzyme, RBC membrane, and hemoglobin disorders result in hemolysis. The typical clinical presentation is a patient with pallor, anemia, jaundice, and often splenomegaly. The laboratory features include anemia, hyperbilirubinemia, and reticulocytosis. For some congenital hemolytic anemias, splenectomy is curative. However, in other diseases, avoidance of drugs and toxins is the best therapy. Supportive care with transfusions are also mainstays of therapy. Chronic hemolysis often results in the formation of gallstones, and cholecystectomy is often indicated. Copyright © 2016 Elsevier Inc. All rights reserved.

  18. Congenital hearing impairment

    International Nuclear Information System (INIS)

    Robson, Caroline D.

    2006-01-01

    Establishing the etiology of congenital hearing impairment can significantly improve treatment for certain causes of hearing loss and facilitates genetic counseling. High-resolution CT and MRI have contributed to the evaluation and management of hearing impairment. In addition, with the identification of innumerable genetic loci and genetic defects involved in hearing loss, genetic testing has emerged as an invaluable tool in the assessment of hearing impairment. Some of the common forms of congenital hearing loss are reviewed and their imaging features illustrated. (orig.)

  19. [Congenital spinal malformations].

    Science.gov (United States)

    Ertl-Wagner, B B; Reiser, M F

    2001-12-01

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

  20. Congenital spinal malformations

    International Nuclear Information System (INIS)

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

    2001-01-01

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

  1. Contemporary management and outcomes in congenitally corrected transposition of the great arteries.

    Science.gov (United States)

    Kutty, Shelby; Danford, David A; Diller, Gerhard-Paul; Tutarel, Oktay

    2018-01-11

    Congenitally corrected transposition of the great arteries (ccTGA) can occur in isolation, or in combination with other structural cardiac anomalies, most commonly ventricular septal defect, pulmonary stenosis and tricuspid valve disease. Clinical recognition can be challenging, so echocardiography is often the means by which definitive diagnosis is made. The tricuspid valve and right ventricle are on the systemic arterial side of the ccTGA circulation, and are therefore subject to progressive functional deterioration. The natural history of ccTGA is also greatly influenced by the nature and severity of accompanying lesions, some of which require surgical repair. Some management strategies leave the right ventricle as the systemic arterial pump, but carry the risk of worsening heart failure. More complex 'double switch' repairs establish the left ventricle as the systemic pump, and include an atrial baffle to redirect venous return in combination with either arterial switch or Rastelli operation (if a suitable ventricular septal defect permits). Occasionally, the anatomic peculiarities of ccTGA do not allow straightforward biventricular repair, and Fontan palliation is a reasonable option. Regardless of the approach selected, late cardiovascular complications are relatively common, so ongoing outpatient surveillance should be established in an age-appropriate facility with expertise in congenital heart disease care. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2018. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  2. Routine clinical cardiovascular magnetic resonance in paediatric and adult congenital heart disease: patients, protocols, questions asked and contributions made

    Directory of Open Access Journals (Sweden)

    Martinoff Stefan

    2008-10-01

    Full Text Available Abstract Background Cardiovascular Magnetic Resonance (CMR of patients with congenital heart disease (CHD has become routine clinical practice. However, existing CMR protocols focus predominantly on patients with ischemic heart disease, and information is limited on the types of patient with CHD who benefit from CMR investigation, and in what ways. Therefore the aim of this study was to answer the questions: What type of patients were studied by CMR in a centre specializing in paediatric and adult CHD management? What questions were asked, which protocols were used and were the questions successfully answered? To answer these questions, we conducted a cohort study of all 362 patients that received routine clinical CMR during 2007 at the Department of Paediatric Cardiology and Congenital Heart Disease at the Deutsches Herzzentrum München. Results Underlying diagnosis was in 33% Fallot's tetralogy, 17% aortic coarctation, 8% Ebstein's disease, 6% Marfan's disease, 4% single ventricle with Fontan-like circulation, and 32% others. Median age was 26 years (7 days – 75 years. Ventricular volumes were assessed in 67% of the patients; flow in 74%; unknown anatomy only in 9%; specific individual morphology of known anatomy in 83%; myocardial fibrosis in 8%; stress-induced myocardial perfusion defects in 1%. Only in 3% of the cases the question could not be fully answered. Conclusion Contrary to common belief, routine CMR of patients with CHD was not requested to address global anatomical questions so much as to clarify specific questions of morphology and function of known anatomy. The CMR protocols used differed markedly from those widely used in patients with ischemic heart disease.

  3. Anorexia: an early sign of fourth ventricle astrocytoma in children.

    Science.gov (United States)

    Leroy, Henri-Arthur; Baroncini, Marc; Delestret, Isabelle; Florent, Vincent; Vinchon, Matthieu

    2014-12-01

    Paediatric low-grade astrocytomas of the fourth ventricle are rare tumours, generally revealed by hydrocephalus. However, some patients present with a history of severe anorexia. It might be a harbinger, which if recognized, could lead to earlier diagnosis. We decided to examine our database in order to evaluate the incidence and signification of anorexia in this context. Retrospective monocentric study of cases of low-grade astrocytomas of the fourth ventricle operated between 1991 and 2012 in our paediatric neurosurgery department. We particularly observed the clinical presentation and long-term clinical, oncological and radiological evolution. Non-parametrical tests were used (Mann-Whitney, Fisher). We reviewed 34 cases, 31 pilocytic astrocytomas and 3 diffuse astrocytomas, 16 boys and 18 girls, (M/F ratio 0.89). Mean age at diagnosis was 8 years old. Seven presented with notable anorexia, the average BMI in this group was ≤2 standard deviation (SD); with clinical signs evolving for 11.5 months. Twenty-seven children had no anorexia; average BMI in this group was +1 SD, with clinical evolution for 6 months on an average of p anorexia, body mass index improved markedly in the postoperative follow-up, which lasted, on average, for 6 years. Anorexia with stunted body weight curve is a non-exceptional presentation in children with low-grade astrocytomas of the fourth ventricle. Unexplained or atypical anorexia with negative etiologic assessment should prompt cerebral imaging. Clinical improvement after surgical resection, could suggest a possible interaction between tumour tissue and appetite-suppressing peptide secretion.

  4. The congenital cranial dysinnervation disorders.

    Science.gov (United States)

    Gutowski, N J; Chilton, J K

    2015-07-01

    Congenital cranial dysinnervation disorders (CCDD) encompass a number of related conditions and includes Duane syndrome, congenital fibrosis of the external ocular muscles, Möbius syndrome, congenital ptosis and hereditary congenital facial paresis. These are congenital disorders where the primary findings are non-progressive and are caused by developmental abnormalities of cranial nerves/nuclei with primary or secondary dysinnervation. Several CCDD genes have been found, which enhance our understanding of the mechanisms involved in brain stem development and axonal guidance. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  5. Aortopathy in adults with tetralogy of Fallot has a negative impact on the left ventricle.

    Science.gov (United States)

    Shiina, Yumi; Murakami, Tomoaki; Kawamatsu, Naoto; Niwa, Koichiro

    2017-02-01

    Aortic pressure wave reflection is significantly elevated in patients with congenital heart disease, even in children. Excessive aortic pressure wave reflection provokes cardiovascular events. To assess the influences of the enhanced pressure wave reflection on the left ventricle (LV) in adults with repaired tetralogy of Fallot (TOF). Prospectively, 51 consecutive adults with repaired TOF (35.5±11.6yrs., 25 males) were enrolled and non-invasively assessed the pressure wave reflection using HEM 9000AI. A surrogate maker of the aortic pressure wave reflection, radial augmentation index (rAI) was calculated as reflection wave divided by ejection wave. We also evaluated LV function using echocardiography and magnetic resonance images. Patients were divided into two groups: group A with rAI≧1SD and group B with rAI<1SD. The mean rAI in repaired TOF was 76.9±14.3%. In group A, indexed ascending aortic diameter, LV global longitudinal strain (GLS), LV global circumferential strain (GCS), LV early diastolic strain rate (SR), LV E/A, LV e' were significantly higher than them in group B. The indexed ascending aortic diameter significantly correlated with rAI (r=0.31, P<0.05). On univariate logistic analysis, body surface area, indexed ascending aortic diameter, GLS, GCS, early diastolic SR, LV E/A, LV mass index and creatinine were predictive factors of rAI≧1SD. On multivariate logistic analysis, LV E/A was the most significant predictive factor of rAI≧1SD (Odds ratio 0.044, 95%CI 0.002-0.98 and P<0.05). Aortic pressure wave reflection in adults with repaired TOF has a negative impact on LV function, particularly on diastolic function. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  6. EAMJ Congenital.indd

    African Journals Online (AJOL)

    2010-02-02

    Feb 2, 2010 ... Consultative Hemostasis and Thrombosis. Kitchens. S.C., Alving B.M, Kessler C.M. 2nd Edition, 2007,. Saundres Elsevier, Philadelphia, PA, USA. 2. International Registry of Rare Bleeding Disorders website: www.rbdd.org Last accessed on 29th. November 2009. 3. Menache, D. Congenital fibrinogen ...

  7. Congenital syphilis who risk?

    African Journals Online (AJOL)

    1989-08-05

    Aug 5, 1989 ... The prevalence of syphilis (or positive serology) in pregnant mothers delivering at ... with penicillin. The treponemes are as sensitive to penicillin today as they were when this therapy was introduced by. Mahney and Harris in 1934.1 Although congenital syphilis is a potentially preventable disease, it was ...

  8. Pseudoamblyopia in Congenital Cyclotropia

    Directory of Open Access Journals (Sweden)

    Antonio Frattolillo

    2017-01-01

    Full Text Available Purpose. To study the effect of surgery on amblyopia and suppression associated with congenital cyclovertical strabismus. Methods. The fixation pattern was investigated with microperimetry before and soon after surgery in ten consecutive children operated for congenital superior oblique palsy at the S. Martino Hospital, Belluno, Italy, between September 2014 and December 2015. Changes in visual performance in terms of best-corrected visual acuity (BCVA and stereopsis between the day before and one week after surgery were also evaluated. No other amblyopia treatment has been administered during the time study. Results. Surgical correction of the excyclodeviation in congenital SO palsy determined monocular and binocular sensory consequences: monocularly, in the cyclodeviated amblyopic eye, BCVA (0.46–0.03 LogMAR; p<0.0001 and the fixation pattern improved, as demonstrated by microperimetry examination. Binocularly, stereopsis improved or emerged while suppression at the Worth four-dot test disappeared. Conclusions. In the absence of further amblyopic factors such as coexisting constant vertical and/or horizontal deviation and anisometropia, the amblyopia encountered in congenital SO palsy may resolve soon after the surgical alignment. Therefore, it may be considered and defined “pseudoamblyopia.”

  9. EAMJ March -Congenital

    African Journals Online (AJOL)

    iMac User

    convulsions, cerebral cortical dysgenetic changes, bronchiectasis and chronic sinusitis is presented. She had features of both yellow nail syndrome and Hennekam syndrome. We think that our case might be a new congenital lymphoedema syndrome or an intermediate form between these syndromes. INTRODUCTION.

  10. Congenital extracranial meningioma

    International Nuclear Information System (INIS)

    Wong, H.F.; Ng, S.H.; Wai, Y.Y.; Wan, Y.L.; Kong, M.S.

    1995-01-01

    The authors report a case of congenital meningioma in a newborn. This tumour is extremely rare and only six cases have been reported in the literature. Those reported cases were mainly intracranial. This is the first case of a neonatal extracranial meningioma that was evaluated preoperatively by computed tomography and magnetic resonance imaging. (orig.)

  11. Congenital cystic adenomatoid malformation

    International Nuclear Information System (INIS)

    Chaudhry, A.K.; Azam, M.; Maqsood, R.; Naz, B.; Salam, A.

    2003-01-01

    This case report presents the clinical picture, diagnostic methodology and surgical treatment of a female child who presented with chronic cough and dyspnoea due to congenital malformation of lung. A discussion of diagnosis and management is presented at the end. (author)

  12. Congenital cystic adenomatoid malformation

    Directory of Open Access Journals (Sweden)

    Kamal M. Alshamiri

    2017-12-01

    Full Text Available Congenital pulmonary airway malformation of the lung is a rare lesion that commonly affects the lower respiratory tract, which manifests as progressive respiratory distress in the neonatal period. This case is highlighted to raise awareness of the variable evolving morphological and radiological appearance of this entity.

  13. EAMJ March -Congenital

    African Journals Online (AJOL)

    iMac User

    SUMMARY. A l0-year-old girl with facial anomalies, mental retardation, peripheral lymphoedema, convulsions, cerebral cortical dysgenetic changes, bronchiectasis and chronic sinusitis is presented. She had features of both yellow nail syndrome and Hennekam syndrome. We think that our case might be a new congenital ...

  14. Transmural distribution of myocardial infarction: difference between the right and left ventricles in a canine model

    International Nuclear Information System (INIS)

    Ohzono, K.; Koyanagi, S.; Urabe, Y.; Harasawa, Y.; Tomoike, H.; Nakamura, M.

    1986-01-01

    The evolution of myocardial infarction 24 hours after ligating both the right coronary artery and the obtuse marginal branch of the left circumflex coronary artery was examined in 33 anesthetized dogs. Postmortem coronary angiography and a tracer microsphere technique were used to determine risk areas and their collateral blood flows, respectively. The mean weight of the risk areas was 11.3 +/- 0.5 g (mean +/- SEM) in the right ventricle and 10.5 +/- 0.9 g in the left ventricle (NS). The weight of infarcted tissue was 5.7 +/- 0.7 g in the right ventricle and 5.2 +/- 0.9 g in the left ventricle (NS). In both ventricles, infarct weight was linearly related to risk area size, and the percent of risk area necrosis was inversely correlated with the extent of collateral flow at 24 hours of coronary ligation, defined as the mean myocardial blood flow inside the central risk area. Ratios of infarct to risk area between the subendocardial and subepicardial layers were 0.76 +/- 0.06 and 0.28 +/- 0.05 in the right and left ventricles, respectively (p less than 0.01, between ventricles, n = 31), which coincided well with subendocardial-to-subepicardial-flow ratios at 24 hours, ie, 0.86 +/- 0.04 in the right ventricle and 0.32 +/- 0.06 in the left ventricle (p less than 0.01). The regional distribution of myocardial infarction correlated well with flow distribution inside the risk area; the slope of these relations was similar between the subendocardium and subepicardium in the right ventricle, whereas in the left ventricle it was larger in the subendocardium than in the subepicardium. Thus, in the dog, the inherent change in the regional distribution of coronary collateral blood flow is an important modifier in the evolution of myocardial infarction, especially in the left ventricle

  15. Proteomic analysis of human fetal atria and ventricle.

    Science.gov (United States)

    Lu, Zhen Qi; Sinha, Ankit; Sharma, Parveen; Kislinger, Thomas; Gramolini, Anthony O

    2014-12-05

    In this study we carried out a mass spectrometry-based proteome analysis of human fetal atria and ventricles. Heart protein lysates were analyzed on the Q-Exactive mass spectrometer in biological triplicates. Protein identification using MaxQuant yielded a total of 2754 atrial protein groups (91%) and 2825 ventricular protein groups (83%) in at least 2 of the 3 runs with ≥ 2 unique peptides. Statistical analyses using fold-enrichment (>2) and p-values (≤ 0.05) selected chamber-enriched atrial (134) and ventricular (81) protein groups. Several previously characterized cardiac chamber-enriched proteins were identified in this study including atrial isoform of myosin light chain 2 (MYL7), atrial natriuretic peptide (NPPA), connexin 40 (GJA5), and peptidylglycine alpha-amidating monooxygenase (PAM) for atria, and ventricular isoforms of myosin light chains (MYL2 and MYL3), myosin heavy chain 7 (MYH7), and connexin 43 (GJA1) for ventricle. Our data was compared to in-house generated and publicly available human microarrays, several human cardiac proteomes, and phenotype ontology databases.

  16. Extracting local stretching from left ventricle angiography data

    Science.gov (United States)

    Mishra, Sanjoy K.; Goldgof, Dmitry B.

    1991-07-01

    This paper presents a new method for extracting local surface stretching from the left ventricle (LV) cineangiography data. The algorithm is based on Gaussian curvature for surface stretching recovery under more realistic conformal motion assumption. During conformal motion surface stretching can vary over the surface patch. In particular, surface stretching can be approximated using linear or quadratic (or higher order) functions. Then, coefficients of the approximating function can be calculated and surface stretching computed from changes in surface curvature at corresponding points. For example, linear approximation requires three point correspondences (between consecutive time frames) within small surface patch. The authors demonstrate the higher precision of the new approach (as compared to homothetic assumption in the authors' earlier work) on simulated and real data of the left ventricle of the human heart. The data set was provided by Dr. Alistair Young of the University of Auckland, New Zealand, and consists of the tracked locations of eleven bifurcation points of the left coronary artery and the tracked locations of 292 vessel points for one cardiac cycle (60 frames/cycle).

  17. Colloid cysts of the third ventricle exhibit heterogeneous clinical picture

    Directory of Open Access Journals (Sweden)

    Janez Ravnik

    2014-08-01

    Full Text Available Background: Colloid cysts are rare benign intracranial tumours generally occurring in the front part of the third ventricle. Clinical picture may be non-specific. Various problems are usually associated with hydrocephalus that these cysts may cause.Methods: Five patients with colloid cyst of the third ventricle were consecutively operated on at our department. All had different clinical pictures. Two patients suffered from acute hydrocephalus, one of them also from rapid deterioration of consciousness. In two patients, the cyst was discovered accidentally owing to non-specific problems. One patient experienced progressive deterioration due to chronic hydrocephalus.Results: All patients had a colloid cyst removed via the right anterior interhemispheric transcallosal approach. One patient had surgical complication with transient left-sided haemiparesis, followed by osteomyelitis. Postoperative course in all other patients was unremarkable.Conclusions: Due to a high risk of potential sudden deterioration the colloid cysts may cause, a rapid surgical intervention is generally needed. The anterior interhemispheric transcallosal approach is a well accepted and safe surgical option.

  18. [Anatomy and embriology of double outlet right ventricle (author's transl)].

    Science.gov (United States)

    Angelini, P; Leachman, R D

    1978-01-01

    After formulating the definition of double outlet right ventricle (DORV) as the persistence origin of the trunco-conal structures from the right ventricle, 64 autopsy cases meeting this definition were reviewed. A wide spectrum of anatomic variations of DORV were found. A classification is proposed based upon the type of relationship between the great vessels and upon the presence and type of ventricular septal defect. Twenty-five cases had normally crossed great arteries (13 of which had pulmonic stenosis), nine cases had transposed vessels and 23 cases had a double muscular conus and a side-by-side arrangement of the great vessels in the frontal view, a relationship called "partial distortion" or atypical transposition. Seven cases had absent trunco-conal septum (common truncus). Only one case had intact ventricular septum. Anterior ventricular septal defect was found only in cases with partial distortion or common truncus. Angiographic and surgical correlations are presented. Because of their great heterogeneity, the need for detailed description of the anatomy of the individual case of DORV is emphasized.

  19. [Intramural chronotopography of depolarization of myocardium of heart ventricles of pig (Sus scrofa domesticus)].

    Science.gov (United States)

    Gulyaeva, A S; Roshchecskaya, I M; Roshchevsky, M P

    2014-01-01

    Sequence of depolarization of myocardium of pig heart ventricles was studied by the method of multichannel synchronous cardioelectrotopography. There is established formation of areas of early depolarization in subendocardium of interventricular septum and in the base of left ventricle papillary muscles; of multiple foci--in the depth of walls; of areas of late depolarization--in subepicardium of the left ventricle dorsolateral side. As compared with other species of ungulate animals (reindeer and sheep, in pig heart ventricles, differences are revealed in locations of early and late depolarization, a breakdown of the excitation wave into subepicardium.

  20. Feasibility of exercise stress echocardiography and myocardial response in patients with repaired congenital heart disease.

    Science.gov (United States)

    Hasan, Babar S; Lunze, Fatima I; Alvi, Najveen; Shafer, Keri M; Rhodes, Jonathan

    2017-06-01

    Exercise stress echocardiography (ESE) can unmask ventricular dysfunction in asymptomatic patients with congenital heart disease (CHD), but its acquisition and interpretation is often challenging, and the method has not been validated in CHD. This study aimed to evaluate the feasibility of ESE using Doppler imaging and to assess myocardial response to exercise in patients with biventricular (BiV) and univentricular (UniV) circulation after CHD repair. In this single-center prospective study, we recruited 55 participants (17 females), median age 14 years (8-22 years). Our analysis categorized participants in these three groups: with structurally normal hearts as controls (n=21), with BiV circulation (n=20) and with UniV circulation (n=14). We acquired ESE images of the systemic ventricle including pulsed-wave flow and spectral tissue Doppler imaging (TDI) of lateral free wall before and immediately after standard, symptom-limited exercise tests on an electronically braked cycle ergometer. During ESE we obtained inflow E-wave and TDI systolic (S') and early diastolic (E') velocities in 93% to 100% of participants at rest and in 90% to 100% of participants post exercise. Feasibility to obtain Doppler imaging parameter was the same across study groups. The myocardial response to exercise was increase in heart rate (HR), S' and inflow E-wave velocity in all participants. Patients with BiV circulation had preserved ventricular function at rest. While patients with UniV circulation had low S', E', and E-wave velocities at rest in comparison to controls and to BiV group (all P<.001), both patients with BiV and UniV circulation showed significant increases in HR, S' velocity and inflow E-wave velocity post exercise, with magnitudes of these increases higher in controls than in the BiV and UniV group. The S' and E' velocities were strongly associated with lower percent predicted peak oxygen consumption VO 2 (r s =0.614 and r s =0.64, respectively, both P<.001). ESE with

  1. Fluid mechanics of human fetal right ventricles from image-based computational fluid dynamics using 4D clinical ultrasound scans.

    Science.gov (United States)

    Wiputra, Hadi; Lai, Chang Quan; Lim, Guat Ling; Heng, Joel Jia Wei; Guo, Lan; Soomar, Sanah Merchant; Leo, Hwa Liang; Biwas, Arijit; Mattar, Citra Nurfarah Zaini; Yap, Choon Hwai

    2016-12-01

    There are 0.6-1.9% of US children who were born with congenital heart malformations. Clinical and animal studies suggest that abnormal blood flow forces might play a role in causing these malformation, highlighting the importance of understanding the fetal cardiovascular fluid mechanics. We performed computational fluid dynamics simulations of the right ventricles, based on four-dimensional ultrasound scans of three 20-wk-old normal human fetuses, to characterize their flow and energy dynamics. Peak intraventricular pressure gradients were found to be 0.2-0.9 mmHg during systole, and 0.1-0.2 mmHg during diastole. Diastolic wall shear stresses were found to be around 1 Pa, which could elevate to 2-4 Pa during systole in the outflow tract. Fetal right ventricles have complex flow patterns featuring two interacting diastolic vortex rings, formed during diastolic E wave and A wave. These rings persisted through the end of systole and elevated wall shear stresses in their proximity. They were observed to conserve ∼25.0% of peak diastolic kinetic energy to be carried over into the subsequent systole. However, this carried-over kinetic energy did not significantly alter the work done by the heart for ejection. Thus, while diastolic vortexes played a significant role in determining spatial patterns and magnitudes of diastolic wall shear stresses, they did not have significant influence on systolic ejection. Our results can serve as a baseline for future comparison with diseased hearts. Copyright © 2016 the American Physiological Society.

  2. Three-dimensional MR imaging of congenital heart disease

    International Nuclear Information System (INIS)

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

    1987-01-01

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

  3. Current therapy of the right ventricle myocardial infarction

    Directory of Open Access Journals (Sweden)

    Orozović Vjekoslav

    2002-01-01

    Full Text Available Background. Acute myocardial infarction of the right ventricle (AMI-RV is a separate subgroup within the scope of inferoposterior infarction of the left ventricle. It still represents the population of patients at high risk due to numerous, often hardly predictable complications and high mortality rate. Methods. In fifteen-year period (1987-2001 3 765 patients with the acute myocardial infarction (AMI of different localizations of both sexes – 2 283 males and 1 482 females of the average age 61.4 ± 4.6 years were treated in our institution. Anterior myocardial infarction was diagnosed in 2 146 (56.9% patients, inferior in 1 619 (43.1% patients, out of whom right ventricular infarction (RVI was confirmed in 384 (23.7%. Thrombolytic therapy was administered in 163 (42.4% patients with RVI, and in 53 (41.7% of these patients balloon dilatation was performed with coronary stent implantation in 24 (45.2%. Results. Favorable clinical effect of the combined thrombolytic therapy and percutaneous transluminal coronary angioplasty (PTCA was achieved in 51 (96.1%, and in only 2 (3.9% of patients the expected effect wasn't achieved. Myocardial revascularization was accomplished in 6 (3.6% and 1 patient died. In 3 (3.4% patients primary balloon dilatation with the implantation of intracoronary stent was performed within 6 hours from the onset of anginal pain. In the other group of 221 (57.5% patients with RVI who did not receive thrombolytic therapy, or it had no effect, 26 (11.7% patients died, which indicated the validity and the efficacy of this treatment (p<0,01. In the whole group of patients with myocardial infarction of the right ventricle 31 (8.1% died; in the group that received thrombolytic therapy and PTCA 5 (3.1% died, while in the group treated in a conservative way 26 (11.7% died. Conclusion. Combined therapy was successful in the treatment of patients with RVI and should be administered whenever possible, since it was the best

  4. Complications Associated With Implantable Cardioverter Defibrillators in Adults With Congenital Heart Disease or Left Ventricular Noncompaction Cardiomyopathy (From the NCDR®Implantable Cardioverter-Defibrillator Registry).

    Science.gov (United States)

    Gleva, Marye J; Wang, Yongfei; Curtis, Jeptha P; Berul, Charles I; Huddleston, Charles B; Poole, Jeanne E

    2017-11-15

    Patients with childhood heart disease are living longer and entering adulthood, and may undergo implantable cardioverter-defibrillator (ICD) implantation to reduce the risk of sudden death. We evaluated the characteristics of adult patients with congenital heart disease or left ventricular noncompaction cardiomyopathy (LVNC) in the National Cardiovascular Disease Registry ICD Registry and determined ICD-related in-hospital complications. Patients with LVNC or transposition of the great arteries, tetralogy of Fallot, Ebstein's anomaly, atrial septal defect, ventricular septal defect, or common ventricle were identified in the registry. In-hospital complications were compared among different diagnoses using the chi-square test for categorical variables and the F-test in analyses of variance for continuous variables. A total of 3,077 patients were identified. The mean age was 48.0 ± 16.0 years, and 39.9% were female. Single-chamber ICDs were implanted in 25.2%, dual chamber in 41.9%, and cardiac resynchronization in 30.8%. Intraprocedural or postprocedural complications occurred in 70 patients (2.3%); there were 6 in-hospital deaths (0.2%). The most frequent complications were acute lead dislodgments, pneumothorax, and hematomas. Patients with Ebstein's anomaly had the greatest complication rate (8.3%, p = 0.03). The complication rate was 1.55% in single-chamber devices, 1.86% in dual chamber, and 3.5% in cardiac resynchronization (p < 0.001). For initial implants, the complication rate was 2.55%, 1.62% in generator replacements, and 8.77% in lead revisions (p = 0.001). In conclusion, in this large contemporary adult cohort of congenital heart disease and LVNC patients who underwent ICD implant procedures, periprocedural complication rates were low. Lead-related risks predominated. Copyright © 2017 Elsevier Inc. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    Sarah Ghonim

    2017-05-01

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

  6. Congenital diaphramatic hernia

    International Nuclear Information System (INIS)

    Kline-Fath, Beth M.

    2012-01-01

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  7. Congenital diaphramatic hernia

    Energy Technology Data Exchange (ETDEWEB)

    Kline-Fath, Beth M. [Cincinnati Children' s Hospital Medical Center, Department of Radiology, Fetal Care Center of Cincinnati, Cincinnati, OH (United States); Cincinnati Children' s Hospital Medical Center, Department of Radiology, MLC 5031, Cincinnati, OH (United States)

    2012-01-15

    Congenital diaphragmatic hernia, despite advances in therapy, remains a complex condition with significant morbidity and mortality. The etiology of the disorder is still incompletely understood, though the pulmonary hypoplasia and pulmonary hypertension that develop secondarily must be overcome to improve survival. Prenatal US and fetal MRI have helped in the development of a greater understanding of this disease. Also with these modalities, measurement techniques have been developed in an attempt to provide prognosticators for the development of pulmonary hypoplasia and pulmonary hypertension. There is a broad range of approaches for performing these measurements, and variability among imaging centers is noted. Despite inconsistent approaches, these techniques have become the foundation for counseling and prenatal and postnatal therapy. It is hoped that with further research with prenatal US and fetal MRI and the development of innovative medical and surgical therapies that the morbidity and mortality of children with congenital diaphragmatic hernias can be significantly reduced. (orig.)

  8. Possible rare congenital dysinnervation disorder: congenital ptosis associated with adduction.

    Science.gov (United States)

    Mendes, Sílvia; Beselga, Diana; Campos, Sónia; Neves, Arminda; Campos, Joana; Carvalho, Sílvia; Silva, Eduardo; Castro Sousa, João Paulo

    2015-01-01

    Ptosis is defined as an abnormally low position of the upper eyelid margin. It can be congenital or acquired, uni or bilateral, and isolated or associated with other ocular and nonocular defects. We report a case of a female child, aged 8 years, with congenital right ptosis increased on right adduction and with left ptosis on left adduction. There was no horizontal ocular movement limitation. Apparent underaction of the right inferior oblique muscle was also present. We believe that within the possible mechanisms it is more likely that it is a congenital innervation dysgenesis syndrome (CID)/congenital cranial dysinnervation disorder (CCDD).

  9. Congenital syphilis: literature review

    OpenAIRE

    Eduardo Chaida Sonda; Felipe Farias Richter; Graziela Boschetti; Marcela Pase Casasola; Candice Franke Krumel; Cristiane Pimentel Hernandes Machado

    2013-01-01

    Syphilis is an infectious disease caused by Treponema pallidum and has high rates of vertical transmission, which can reach 100% depending on the maternal disease and stage of pregnancy. The diagnosis of gestational syphilis is simple and its screening is required during the prenatal period. However, this disease still has a high prevalence, affecting two million pregnant women worldwide. The procedures performed in newborns with congenital syphilis represent costs that are three-fold higher ...

  10. Characterizing Congenital Amusia

    OpenAIRE

    Stewart, Lauren

    2011-01-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of ...

  11. CONGENITAL ANTERIOR TIBIOFEMURAL SUBLUXATION

    Directory of Open Access Journals (Sweden)

    A. Shahla

    2008-06-01

    Full Text Available Congenital anterior tibiofemoral subluxation is an extremely rare disorder. All reported cases accompanied by other abnormalities and syndromes. A 16-year-old high school girl referred to us with bilateral anterior tibiofemoral subluxation as the knees were extended and reduced at more than 30 degrees flexion. Deformities were due to tightness of the iliotibial band and biceps femuris muscles and corrected by surgical release. Associated disorders included bilateral anterior shoulders dislocation, short metacarpals and metatarsals, and right calcaneuvalgus deformity.

  12. Ventricle Boundary in CT: Partial Volume Effect and Local Thresholds

    Directory of Open Access Journals (Sweden)

    Ihar Volkau

    2010-01-01

    Full Text Available We present a mathematical frame to carry out segmentation of cerebrospinal fluid (CSF of ventricular region in computed tomography (CT images in the presence of partial volume effect (PVE. First, the image histogram is fitted using the Gaussian mixture model (GMM. Analyzing the GMM, we find global threshold based on parameters of distributions for CSF, and for the combined white and grey matter (WGM. The parameters of distribution of PVE pixels on the boundary of ventricles are estimated by using a convolution operator. These parameters are used to calculate local thresholds for boundary pixels by the analysis of contribution of the neighbor pixels intensities into a PVE pixel. The method works even in the case of an almost unimodal histogram; it can be useful to analyze the parameters of PVE in the ground truth provided by the expert.

  13. [The right ventricle in cardiac surgery: the surgeon perspective].

    Science.gov (United States)

    Guerra, Miguel

    2010-01-01

    Right ventricular function is acknowledged as an important prognostic element in cardiovascular diseases and cardiac surgery. Although recent years have seen significant advances in the exploration of cardiac function, assessing right ventricular performance still remains a challenge for the daily practice. The right ventricle is a complex structure that cannot be approximated by a simple geometric form. It functions in a low impedance system therefore it is sensitive to pressure overload. Along with contractility and loading conditions, ventricular interactions play an important part in right ventricular function and failure. The aims of our review are to describe the main characteristics of RV anatomy, function and failure and also to present a perioperative perspective on right ventricular dysfunction assessment, its clinical significance and its urgent management. Moreover, the advantages of an early diagnosis and preventive approach will be discussed. An improved understanding of pathophysiology and technologic progress provides us with new pathways in the diagnosis and hemodynamic support of these often critically ill patients.

  14. A Rare third ventricle solitary tuberculoma | N'da | Pan African ...

    African Journals Online (AJOL)

    The authors report a case of third ventricle solitary Tuberculoma which has occurred in a 10 year old patient and revealed by a syndrome of intracranial hypertension without tuberculosis stigma. This lesion ... The authors insist on the diagnostic and therapeutic difficulties in front of a third ventricle solitary tuberculoma.

  15. The elusive heart : the right ventricle in chronic abnormal loading conditions

    NARCIS (Netherlands)

    Borgdorff, Reinout

    2014-01-01

    The right ventricle normally pumps the oxygen-poor blood from the body, towards the lungs, where it is oxygenated. When the function of the right ventricle is insufficient (this is called ‘right ventricular failure’), patients get severe symptoms such as fluid accumulation in the legs, fatigue and

  16. Liposome-encapsulated berberine treatment reduces adverse ventricle remodeling after myocardial infarction

    NARCIS (Netherlands)

    Wang, J.W.|info:eu-repo/dai/nl/413575055; Allijn, I.E.|info:eu-repo/dai/nl/369493192; Czarny, B.M.S.; Wang, X.Y.|info:eu-repo/dai/nl/413575152; Chong, S.Y.; Pastorin, G.; De Kleijn, D.P.V.; Storm, G.|info:eu-repo/dai/nl/073356328; Schiffelers, R.M.|info:eu-repo/dai/nl/212909509

    2016-01-01

    Introduction: Adverse left ventricle remodeling can be measured as a reduction in ejection fraction after myocardial infarction. Left ventricle remodeling leads to congestive heart failure and is a main determinant of mortality and morbidity after myocardial infarction. Berberine is an isoquinoline

  17. Predictors of left ventricle aneurism development in patients with acute anterior Q-wave myocardial infarction

    Directory of Open Access Journals (Sweden)

    V.D. Syvolap

    2013-08-01

    Full Text Available 67 patients with diagnosis: Q-wave myocardial infarction – were examined. Peculiarities of ECG and echocardiographic indexes were studied depending on the presence of left ventricle aneurism. Predictors of left ventricle aneurism formation were revealed in patients with acute Q-wave myocardial infarction.

  18. Predictors of left ventricle aneurism development in patients with acute anterior Q-wave myocardial infarction

    OpenAIRE

    V.D. Syvolap; S.M. Kyselov

    2013-01-01

    67 patients with diagnosis: Q-wave myocardial infarction – were examined. Peculiarities of ECG and echocardiographic indexes were studied depending on the presence of left ventricle aneurism. Predictors of left ventricle aneurism formation were revealed in patients with acute Q-wave myocardial infarction.

  19. Double-Outlet Right Ventricle With Noncommitted Ventricular Septal Defect and 2 Adequate Ventricles: Is Anatomical Repair Advantageous?

    Science.gov (United States)

    Villemain, Olivier; Bonnet, Damien; Houyel, Lucile; Vergnat, Mathieu; Ladouceur, Magalie; Lambert, Virginie; Jalal, Zakaria; Vouhé, Pascal; Belli, Emre

    The management of double-outlet right ventricle associated with anatomically noncommitted ventricular septal defect constitutes a surgical challenge. The limits for, and the specific outcomes after anatomical vs univentricular repair still remain to be established. Between 1993 and 2011, 36 consecutive patients presenting with double-outlet right ventricle or noncommitted ventricular septal defect (21 inlet, 10 muscular, and 5 central perimembranous) and 2 adequately sized ventricles underwent surgical repair at 2 centers. Right ventricular outflow tract obstruction was present in 18 of 36 patients (50%). A total of 21 patients had undergone previous palliative procedures. Anatomical repair (group I) by means of intraventricular baffle construction was performed in 24 (associated right ventricular outflow tract reconstruction in 12 and arterial switch in 5) at a median age of 10.5 months. Ventricular septal defect was surgically enlarged in 12 (50%) patients. The remaining 12 patients underwent univentricular repair (group II). There were 4 hospital deaths (11%), all in group I (P = 0.30 vs group II). A total of 8 of 20 patients in group I survivors underwent 13 reoperations after a median delay of 24 months: subaortic stenosis was the main cause for reoperation in 6 of 8 patients. There was 1 late death in group I and 2 late deaths in group II. The median follow-up was 5.6 years (95% CI: 0.2-9.8). The 10- year actuarial survival rate and freedom from reoperation were 74.7 ± 5% and 58 ± 5% in group I and 71 ± 7% and 70 ± 7% in group II, respectively. At the last visit, all survivors were in New York Heart Association class I-II. Univariate analysis showed that atrioventricular septal defect and isolated mitral cleft were associated with death (P = 0.04) and need for reoperation (P = 0.038). In conclusion, anatomical repair, associated with substantial rates of mortality and need for reoperation, should be considered with caution. Associated atrioventricular

  20. Radiology of congenital heart disease

    International Nuclear Information System (INIS)

    Amplatz, K.

    1986-01-01

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

  1. Congenital Anomalies among Live Births

    OpenAIRE

    Vivian Rosa Vázquez Martínez; Cristobal Jorge Torres González; Alina Luisa Díaz Dueñas; Grisel Torres Vázquez; Dariel Diaz Díaz; Rafael de la Rosa López

    2014-01-01

    Background: congenital anomalies contribute significantly to mortality during early stages of life; they are the leading cause of infant death in developed countries.Objective: to determine the characteristics of congenital anomalies among live births. Methods: a descriptive study was conducted in the province of Cienfuegos in 2012. Thirty-seven women who had live-born neonates with congenital anomalies were studied. The variables analyzed were: parental age, skin color, order of birth, famil...

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

    Science.gov (United States)

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

    1998-03-01

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

  3. Early detection of congenital syphilis

    Directory of Open Access Journals (Sweden)

    Nagalakshmi Chowdhary

    2014-01-01

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

  4. Congenital Cytomegalovirus Infection: Clinical Outcome

    Science.gov (United States)

    Boppana, Suresh B.; Ross, Shannon A.; Fowler, Karen B.

    2013-01-01

    Congenital cytomegalovirus (CMV) infection is a leading cause of hearing loss and neurologic disabilities in children worldwide. Infants with symptomatic congenital CMV infection at birth are at significantly increased risk for developing adverse long-term outcomes. The vast majority of infants with congenital CMV infection have no clinical findings at birth (asymptomatic infants), and about 10%–15% of these children develop long-term sequelae. Currently, predictors of adverse outcome in asymptomatic congenital CMV infection are not known, and it is important that future studies address this issue. PMID:24257422

  5. The ventricles of the brain in the N. American mink (Mustela vison (Brisson, 1756))

    Energy Technology Data Exchange (ETDEWEB)

    Goscicka, D.; Stankiewicz, W.; Szpinda, M. [Akademia Medyczna, Bydgoszcz (Poland)

    1993-12-31

    Using anatomical as well as radiographic and tomographic methods, sixty brains of the N. American mink were examined. It was found that the brain consists of four ventricles. Also, it was noted that the posterior horn was missing and that there was the olfactory recess present in the lateral ventricle, a large-size interthalamic connection present in the third ventricle, and a flat, necklace-like bottom in the fourth ventricle. Only recently, this ins and outs of the mink`s anatomical structure have begun to absorb anatomists. Apparently, it is related to the fact that furry animals, among them the mink, are being domesticated as if ``before our eyes``. For this reason and because of the easy access to material, examining of the brain ventricles in the mink was taken up. (author). 14 refs, 13 figs.

  6. A child presented with bilateral congenital constriction ring in lower extremity: a case report.

    Science.gov (United States)

    Jaiman, Richa; Gangopadhyay, Ajay N; Gupta, Dinesh K; Srivastava, Punit; Upadhyaya, Vijay D; Sharma, Shiv P; Kumar, Vijayendra

    2009-07-23

    The congenital constriction ring of lower extremity is very uncommon and rare condition. The actual incidence in general population is not known. In English literature, very few cases are reported time to time as congenital constriction band syndrome associated with musculoskeletal disorder like congenital talipes equino varus. The lesion can involve skin only or goes to deeper structure up to bone, which can lead to gangrene of foot or auto amputation. We are presenting a case of bilateral congenital constriction ring in lower limb who presented at age of 4 year without any other associated congenital anomaly, simply managed by Z-plasty, which improves quality of life after physiotherapy. Congenital constriction ring of lower limb is extremely rare condition in children. Early diagnosis and management is mandatory, either in single stage or by stage procedure, to prevent auto-amputation of limb and to improve quality of life on feet.

  7. General Concepts in Adult Congenital Heart Disease

    OpenAIRE

    Ferit Onur Mutluer; Alpay Çeliker

    2018-01-01

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

  8. A case of congenital progressive muscular dystrophy (Fukuyama type) showing improvement of CT scan findings in a low density area of the white matter

    International Nuclear Information System (INIS)

    Ishikawa, Akashi; Murayama, Takashi; Sakuma, Nobuko; Saito, Yoko; Shinoda, Minoru.

    1982-01-01

    The follow-up CT scans of congenital progressive muscular dystrophy (Fukuyama type) were reported. The extensive low-density area around the lateral ventricle and observed at 6 months after birth improved to some extent at the age of 2 years and disappeared almost completely at the age of 3 years and 8 months. When CT improved, high values of serum CPK and aldolase and abnormal EEG at sleep (prominent spindle waves) were still present. This improvement of CT scans resembled that of congenital rubella syndrome, suggesting the possible involvement of intrauterine infection of some virus in onset of this disease. (Chiba, N.)

  9. Case of congenital progressive muscular dystrophy (Fukuyama type) showing improvement of CT scan findings in a low density area of the white matter

    Energy Technology Data Exchange (ETDEWEB)

    Ishikawa, A.; Murayama, T.; Sakuma, N.; Saito, Y. (Hokkaido Univ., Sapporo (Japan)); Shinoda, M.

    1982-01-01

    The follow-up CT scans of congenital progressive muscular dystrophy (Fukuyama type) were reported. The extensive low-density area around the lateral ventricle and observed at 6 months after birth improved to some extent at the age of 2 years and disappeared almost completely at the age of 3 years and 8 months. When CT improved, high values of serum CPK and aldolase and abnormal EEG at sleep (prominent spindle waves) were still present. This improvement of CT scans resembled that of congenital rubella syndrome, suggesting the possible involvement of intrauterine infection of some virus in onset of this disease.

  10. [Clinical analysis of 234 cases with congenital malformations of respiratory system].

    Science.gov (United States)

    Zhang, Wei-xi; Zhang, Hai-lin; Li, Chang-chong; Luo, Yun-chun; Cheng, Jian-min; Huang, Lei; Bai, Guang-hui

    2009-06-01

    To explore clinical characteristics, radiographic findings and diagnostic methods of patients with congenital malformations of respiratory system for enhancing the diagnosis of congenital malformations of respiratory system in children. Totally 234 patients with congenital malformations of respiratory system were chosen from the inpatient department of Yuying Children's Hospital Affiliated to Wenzhou Medical College from July 2003 to June 2008. The clinical presentations and radiographic findings of these children were analyzed. Of the 234 patients with congenital malformations of respiratory system, the age at diagnosis was between the first day and 14 years of age, mean age was 1.12 years. The main symptoms were persistent laryngeal stridor, recurrent wheezing, recurrent respiratory tract infections and dyspnea. Through the use of chest X-ray, spiral CT 3D reconstructions, fiberoptic bronchoscopy and other laboratory techniques, 213 cases were diagnosed as having single malformation and 21 cases were found to have multiple malformations. Of the 213 cases with single malformation, 97 cases had laryngeal malformation (congenital laryngeal stridor in 90 cases, congenital laryngeal webs in 5 cases and congenital laryngeal cyst in 2 cases), 35 cases had tracheal-bronchial malformation (congenital tracheobronchial stenosis in 17 cases, congenital abnormal bronchial origin in 7 cases, tracheobronchomalacia in 10 cases and tracheoesophageal fistula in 1 case), 43 cases had lung malformation (pulmonary sequestration in 5 cases, congenital lung cysts in 22 cases, congenital lobar emphysema in 1 case, agenesis of lung and hypoplasia of lung in 8 cases and congenital cystic adenomatoid malformation in 7 cases), 38 cases had diaphragm malformation, 28 cases had congenital tracheal-bronchial stenosis as confirmed by spiral CT 3D reconstructions and fiberoptic bronchoscopy. Ten cases with congenital abnormal bronchial origin were diagnosed with spiral CT 3D reconstructions

  11. Prevalence of Congenital Malformations

    Directory of Open Access Journals (Sweden)

    Akhavan Karbasi Sedighah

    2009-05-01

    Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.

  12. Congenital imprinting disorders

    DEFF Research Database (Denmark)

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

    2015-01-01

    their common underlying (epi)genetic aetiologies, and their basic pathogenesis and long-term clinical consequences remain largely unknown. Efforts to elucidate the aetiology of IDs are currently fragmented across Europe, and standardisation of diagnostic and clinical management is lacking. The new 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 establishing...

  13. Congenital nephrotic syndrome.

    Science.gov (United States)

    Begolli, Mirije; Begolli, Ilir; Gojani, Xhenane; Arenliu-Qosaj, Fatime; Berisha, Merita

    2011-01-01

    The aim of this case is to present a case of a two month old female with congenital nephritic syndrome, which is very rare. On admission, the baby showed marked edema and distended abdomen. She was diagnosed and treated with daily albumin infusions, antibiotics, diuretic, gamma globulin replacement, ACEI and NSAIDs. Parents were informed about the nature of the disease, prognosis, and advised for further medical care in a more advanced kidney transplantation centre. This was the first treatment of this condition in the Pediatric Clinic in Kosovo and it presented a challenge for us.

  14. Congenital giant melanocytic nevi

    Directory of Open Access Journals (Sweden)

    Shahla Khan

    2009-07-01

    Full Text Available Nevi are common skin tumors caused by abnormal overgrowth of cells from the epidermal and dermal layers of the skin. Most nevi are benign, but some pre-cancerous nevi must be monitored or removed. The giant congenital nevus is greater than 10 cm in size, pigmented and often hairy. Between 4% and 6% of these lesions will develop into a malignant melanoma. Since approximately 50% of the melanoma develop by the age of two, and 80% by the age of seven, early removal is recommended. The objective of this paper is to present a unique case of giant nevi and their surgical management.

  15. Giant Congenital Melanocytic Nevus

    DEFF Research Database (Denmark)

    Rasmussen, Bo Sonnich; Henriksen, Trine Foged; Kølle, Stig-Frederik Trojahn

    2015-01-01

    Giant congenital melanocytic nevi (GCMN) occur in 1:20,000 livebirths and are associated with increased risk of malignant transformation. The treatment of GCMN from 1981 to 2010 in a tertiary referral center was reviewed evaluating the modalities used, cosmetic results, associated complications......% versus 44% required unplanned additional surgery, respectively. Complications were noted in 25% and 67% of the patients, respectively. Cosmetic result was satisfying in 76% of patients without difference between the groups. No malignant transformation was found during a mean follow-up of 11 years....... Curettage is a gentle alternative to excision with a lower complication rate and good cosmetic outcome....

  16. EAMJ Congenital Sep 09.indd

    African Journals Online (AJOL)

    2009-09-09

    Sep 9, 2009 ... Stocker, J.T., Madewell, J.E. and Drake, R.M.. Congenital cystic adenomatoid malformation of the lung: classification and morphologic spectrum. Hum. Pathol. 1977; 8:155-171. 6. Benjamin, D.R. and Cahill, J.L. Bronchioloalveolar carcinoma of the lung and congenital cystic adenomatoid malformation.

  17. EAMJ Congenital Sep 09.indd

    African Journals Online (AJOL)

    2009-09-09

    Sep 9, 2009 ... between congenital lobar emphysema, congenital cystic adenomatoid malformation and tension pneumothorax on radiography. For this reason, a CT of the chest was carried out and this demonstrated cystic over expansion of the right lung base. Distinguishing between CCAM, especially type. 1, which has ...

  18. Placental histopathology of congenital syphilis.

    Science.gov (United States)

    Sheffield, Jeanne S; Sánchez, Pablo J; Wendel, George D; Fong, David W I; Margraf, Linda R; Zeray, Fiker; McIntire, Donald D; Barton Rogers, Beverly

    2002-07-01

    To evaluate the contribution of placental histopathology to the diagnosis of congenital syphilis. From January 1, 1986, through December 31, 1998, all pregnant women presenting to a large, urban Dallas County labor and delivery unit with untreated syphilis at delivery and who had placental evaluation performed were identified. Women were clinically staged, and the infants were evaluated for congenital syphilis using a standard protocol. Each placenta was evaluated by two independent pathologists. Histologic characteristics of the placenta related to congenital syphilis in live-born and stillborn infants were then analyzed. Sixty-seven women met the study criteria: 33 (49%) stillborn and 18 (27%) live-born infants with congenital syphilis, 15 (22%) uninfected live-born infants, and one uninfected stillborn fetus diagnosed by current criteria. There were no differences between the groups with regard to demographic characteristics, prenatal care, or stage of syphilis. Stillborn infants were more likely to deliver preterm (P gestational age, histopathology revealed necrotizing funisitis, villous enlargement, and acute villitis associated with congenital syphilis. Erythroblastosis was more common in stillborn infants with congenital syphilis than all live-born infants (odds ratio 16, 95% confidence interval 1, 370). The addition of histologic evaluation to conventional diagnostic evaluations improved the detection rate for congenital syphilis from 67% to 89% in live-born infants, and 91% to 97% in stillborn infants. Our results show that histopathologic examination of the placenta is a valuable adjunct to the contemporary diagnostic criteria used to diagnose congenital syphilis.

  19. Congenital nystagmus and negative electroretinography

    Directory of Open Access Journals (Sweden)

    Roussi M

    2011-04-01

    Full Text Available Mirella Roussi, Hélène Dalens, Jean Jacques Marcellier, Franck BacinDepartment of Ophthalmology, Clermont-Ferrand University, Clermont-Ferrand, FranceAbstract: Congenital nystagmus is a pathologic oculomotor state appearing at about three to four months of age. The precise diagnosis requires detailed clinical examination and electrophysiological findings. This case report presents two male patients with congenital nystagmus examined longitudinally from the age of six months until 17-18 years of age. Clinical and electrophysiological protocols were detailed. The first results showed electronegative electroretinography in the two cases and examination combined with electroretinographic findings helped us to make the diagnosis of Congenital Night Stationary Blindness (CSNB. This diagnosis was confirmed by genetic studies. CSNB is interesting to study because through electrophysiological findings, it enables a better understanding of the physiology of neural transmission in the outer part of the retina.Keywords: Congenital nystagmus, negative electroretinography, congenital night stationary blindness

  20. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

    Iqbal, W.; Khan, F.; Muzaffar, M.; Khan, U. A.; Rehman, M. U.; Khan, M. A.; Bari, A.

    2006-01-01

    Congenital Leukemia is a condition and often associated with fatal outcome/sup 1/. Most of the neonatal cases reported have acute non-lymphoblastic leukemia, in contrast to the predominance of acute lymphoblastic leukemia found in later childhood. congenital leukemia is occasionally associated with number of congenital anomalies and with chromosomal disorders such as Down's syndrome. Subtle cytogenetic abnormalities may occur more commonly in the affected infants and their parents, when studied with newer cytogenetic techniques/sup 2/. Inherent unstable hematopoieses resulting from chromosomal aberration in children with Downs's syndrome can present with transient myeloproliferative disorder, mimicking leukemia which undergoes spontaneous recovery/sup 3/. Only few cases of congenital leukemia with Downs syndrome, presented as congenital leukemia. (author)

  1. Multi-institutional evaluation of the indications and radiation dose of functional cardiovascular computed tomography (CCT) imaging in congenital heart disease.

    Science.gov (United States)

    Han, B Kelly; Hlavacek, Anthony M; Kay, W Aaron; Pham, Tam Dan N; Grant, Katharine; Garberich, Ross F; Lesser, John R; Raman, Subha V

    2016-02-01

    Ventricular volumes and ejection fraction are often used in clinical decision making in patients with congenital heart disease (CHD). The referral diagnosis, radiation exposure and image quality of functional cardiac computed tomography (CT) in a relatively large cohort of patients of CHD has not been reported. This is a retrospective evaluation of functional CT studies performed in CHD patients from three institutions (1/2007–3/2013). Patient and scanner characteristics, radiation dose estimates and image quality were compared. Two hundred ninety-eight functional CT studies were evaluated. The most common referral diagnosis were tetralogy of Fallot (33 %), transposition complexes(24 %) single ventricle heart disease (15 %), and left sided obstruction (15 %). The reason for cardiac CT was presence of pacemaker (60 %), need for detailed coronary artery imaging (18 %), metallic artifact inC MR(12 %), evaluation of prosthetic valve function (4 %), and claustrophobia or BMI too large for the available MR scanner (6 %). 266(89.3 %) scans allowed quantification of ventricular function,25 (8.4 %) scans allowed qualitative assessment of function, and 7 (2.3 %) of the scans were non-diagnostic for functional analysis. Median DLP was 399 mGy cm (186,614), and median effective dose was 5.5 mSv (2.6, 8.5).Radiation dose and image quality varied across institutions.Cardiac CT function imaging can be performed in patients with congenital heart disease when CMR is contraindicated or has poor image quality. Radiation dose and image quality varies across institutions.

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

    Science.gov (United States)

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

    2014-01-01

    The aim of this study was to evaluate the effects of a standardized exercise program on sports enjoyment and leisure-time spending in adolescents with congenital heart disease and to know what the moderating impact of their baseline health behavior and disease knowledge is. Included were 93 patients, aged 10 to 25, with surgical repair for tetralogy of Fallot or with a Fontan circulation for single-ventricle physiology, of 5 participating centers of pediatric cardiology in The Netherlands. They were randomly allocated, stratified for age, gender, and type of congenital heart disease to a 12-week period with either: (1) three times per week standardized exercise training or (2) care as usual (randomization ratio 2:1). At baseline and after 12 weeks, participants completed Web-based questionnaires and were interviewed by phone. Primary analyses tested changes from baseline to follow-up in sports enjoyment and leisure-time spending in the exercise group vs. control group. Secondary analyses concerned the moderating influence of baseline health behavior and disease knowledge on changes from baseline to follow-up, and comparison with normative data. At follow-up, the exercise group reported a decrease in passive leisure-time spending (watching television and computer usage) compared with controls. Exercise training had no effect on sports enjoyment and active leisure-time spending. Disease knowledge had a moderating effect on improvement in sports enjoyment, whereas health behavior did not. Compared with normative data, patients obtained similar leisure time scores and lower frequencies as to drinking alcohol and smoking. Exercise training decreased passive, but not active, leisure-time spending. It did not influence sports enjoyment. © 2013 Wiley Periodicals, Inc.

  3. Congenital hemihypertrophy with hemihypertrichosis.

    Science.gov (United States)

    Akarsu, Saadet; Coskun, Basak Kandi; Aydin, Ayse Murat; Tekatli, Muhittin; Aygun, A Denizmen

    2005-06-01

    The rare condition in which one side of the body seems to grow faster than the other is called hemihypertrophy. This may be accepted as normal, but there are certain serious conditions that may be associated with this type of growth pattern. Congenital hypertrichosis is believed to be a genetic disorder that is inherited or occurs as a result of spontaneous mutation. The incidence of generalised congenital hypertrichosis is about one in a billion. A seven-month-old female case was brought to the hospital with growth and hairiness complaints, which were more apparent in the right side of the face, the right arm and the right leg. Physical examination showed more apparent hypertrophy and hypertrichosis, which covered the entire right side of the body beginning from the face and including the lower extremities and the genitalia. Hypertrichosis was more evident above the right scapula and on the right leg. The diameter of the right upper extremity and the right lower extremity were measured at 13 mm and 14 mm thicker than the left side, respectively. The infant did not have teeth yet and had totally normal nail growth. Skeletal structure, cardiovascular, respiratory, urogenital, central nervous system and eye examinations were all normal. Results of all laboratory analyses, including genetic examination, and those of the imaging techniques were found to be normal. We hereby present the rare co-presence of hemihypertrophy and hemihypertrichosis, for which we could not identify an etiological cause and which is the third such case in the literature.

  4. Congenital nephrotic syndrome

    Directory of Open Access Journals (Sweden)

    Claudia Fanni

    2014-06-01

    Full Text Available CNS (Congenital nephrotic syndrome is a disorder characterized by the presence of a nephrotic syndrome in the first three months of life. Different pathologies can cause this syndrome. In general, we can distinguish primary forms (sporadic and hereditary and secondary forms (acquired and associated with other syndromes. The most common form is the Finnish CNS (CNF, congenital nephrotic syndrome of the Finnish type, a hereditary form whose name derives from the fact that the highest incidence is described in that country (1.2:10,000. The pathogenesis, the clinical picture, the diagnostic criteria, the therapy and the outcome are described in details.  Proceedings of the International Course on Perinatal Pathology (part of the 10th International Workshop on Neonatology · October 22nd-25th, 2014 · Cagliari (Italy · October 25th, 2014 · The role of the clinical pathological dialogue in problem solving Guest Editors: Gavino Faa, Vassilios Fanos, Peter Van Eyken

  5. Fast left ventricle tracking using localized anatomical affine optical flow.

    Science.gov (United States)

    Queirós, Sandro; Vilaça, João L; Morais, Pedro; Fonseca, Jaime C; D'hooge, Jan; Barbosa, Daniel

    2017-11-01

    In daily clinical cardiology practice, left ventricle (LV) global and regional function assessment is crucial for disease diagnosis, therapy selection, and patient follow-up. Currently, this is still a time-consuming task, spending valuable human resources. In this work, a novel fast methodology for automatic LV tracking is proposed based on localized anatomically constrained affine optical flow. This novel method can be combined to previously proposed segmentation frameworks or manually delineated surfaces at an initial frame to obtain fully delineated datasets and, thus, assess both global and regional myocardial function. Its feasibility and accuracy were investigated in 3 distinct public databases, namely in realistically simulated 3D ultrasound, clinical 3D echocardiography, and clinical cine cardiac magnetic resonance images. The method showed accurate tracking results in all databases, proving its applicability and accuracy for myocardial function assessment. Moreover, when combined to previous state-of-the-art segmentation frameworks, it outperformed previous tracking strategies in both 3D ultrasound and cardiac magnetic resonance data, automatically computing relevant cardiac indices with smaller biases and narrower limits of agreement compared to reference indices. Simultaneously, the proposed localized tracking method showed to be suitable for online processing, even for 3D motion assessment. Importantly, although here evaluated for LV tracking only, this novel methodology is applicable for tracking of other target structures with minimal adaptations. Copyright © 2017 John Wiley & Sons, Ltd.

  6. [Epidermoid neoplasm of the fourth ventricle. Report of two cases].

    Science.gov (United States)

    Santos-Franco, Jorge Arturo; Vallejo-Moncada, Cristóbal; Collado-Arce, Griselda; Villalpando-Navarrete, Edgar; Sandoval-Balanzario, M

    2013-01-01

    epidermoid neoplasm (EN) accounts for 1 % of whole intracranial neoplasms. Usually, it is found at the cerebello-pontine angle and the location in the fourth ventricle (FV) is rare. The aim was to report two cases of EN of the FV. case 1: a female 22 year old presented with an intense headache with a history of 3 months. At the hospital entry, symptoms and signs of high intracranial pressure were found. Tomography images showed hydrocephalus with high pressure in the FV. She was treated with a shunt from ventricular to peritoneal cavity. After that an encapsulated neoplasm was drawn. It had a pearled aspect. The histology report showed an EN originating in the FV. Case 2: a female 44 year old with a history of five years of dizziness; three years before admission she presented intermittent diplopia and disophagia. At the hospital admission the patient presented paresis of the 6th and 7th cranial nerve. The tomography and the magnetic resonance studies showed a mass in the FV. The neoplasm was extirpated. the EN of the FV is an infrequent benign lesion. Magnetic resonance is the standard diagnostic study, but it could lead to confusion with neurocisticercosis. The extirpation and the treatment of the hydrocephalus are indicated.

  7. The Dark Side of the Moon: The Right Ventricle

    Directory of Open Access Journals (Sweden)

    Massimiliano Foschi

    2017-10-01

    Full Text Available The aim of this review article is to summarize current knowledge of the pathophysiology underlying right ventricular failure (RVF, focusing, in particular, on right ventricular assessment and prognosis. The right ventricle (RV can tolerate volume overload well, but is not able to sustain pressure overload. Right ventricular hypertrophy (RVH, as a response to increased afterload, can be adaptive or maladaptive. The easiest and most common way to assess the RV is by two-dimensional (2D trans-thoracic echocardiography measuring surrogate indexes, such as tricuspid annular plane systolic excursion (TAPSE, fractional area change (FAC, and tissue Doppler velocity of the lateral aspect of the tricuspid valvular plane. However, both volumes and function are better estimated by 3D echocardiography and cardiac magnetic resonance (CMR. The prognostic role of the RV in heart failure (HF, pulmonary hypertension (PH, acute myocardial infarction (AMI, and cardiac surgery has been overlooked for many years. However, several recent studies have placed much greater importance on the RV in prognostic assessments. In conclusion, RV dimensions and function should be routinely assessed in cardiovascular disease, as RVF has a significant impact on disease prognosis. In the presence of RVF, different therapeutic approaches, either pharmacological or surgical, may be beneficial.

  8. Visualization of Fiber Structure in the Left and Right Ventricle of a Human Heart

    International Nuclear Information System (INIS)

    Rohmer, Damien; Sitek, Arkadiusz; Gullberg, Grant T.

    2006-01-01

    The human heart is composed of a helical network of muscle fibers. Anisotropic least squares filtering followed by fiber tracking techniques were applied to Diffusion Tensor Magnetic Resonance Imaging(DTMRI) data of the excised human heart. The fiber configuration was visualized by using thin tubes to increase 3-dimensional visual perception of the complex structure. All visualizations were performed using the high-quality ray-tracing software POV-Ray. The fibers are shown within the left and right ventricles. Both ventricles exhibit similar fiber architecture and some bundles of fibers are shown linking right and left ventricles on the posterior region of the heart

  9. Congenital Hydrocephalus in mono and dizygotic twins | Idowu ...

    African Journals Online (AJOL)

    Background: Information regarding the occurrence of hydrocephalus (HC) in twins is important in establishing the significance of environmental factors as well as a genetic basis in congenital HC aetiology. This was the basis for this study. Methods: A single institution retrospective study was conducted between August 1, ...

  10. Genetic causes of congenital diaphragmatic hernia

    Science.gov (United States)

    Wynn, Julia; Yu, Lan; Chung, Wendy K.

    2014-01-01

    Congenital diaphragmatic hernia (CDH) is a moderately prevalent birth defect that, despite advances in neonatal care, is still a significant cause of infant death, and surviving patients have significant morbidity. The goal of ongoing research to elucidate the genetic causes of CDH is to develop better treatment and ultimately prevention. CDH is a complex developmental defect that is etiologically heterogeneous. This review summarizes the recurrent genetic causes of CDH including aneuploidies, chromosome copy number variants, and single gene mutations. It also discusses strategies for genetic evaluation and genetic counseling in an era of rapidly evolving technologies in clinical genetic diagnostics. PMID:25447988

  11. A flexible endoscope-assisted interhemispheric transcallosal approach through the contralateral ventricle for the removal of a third ventricle craniopharyngioma: A technical report.

    Science.gov (United States)

    Yano, Shigetoshi; Hide, Takuichiro; Shinojima, Naoki; Ueda, Yutaka; Kuratsu, Jun-Ichi

    2015-01-01

    Intraventricular craniopharyngiomas are difficult to remove. We combined an interhemispheric transcallosal approach with a flexible endoscope (videoscope) for successful tumor removal. A 52-year-old male complained of general fatigue and memory disturbance. Magnetic resonance imaging revealed a well-enhanced third ventricle mass with dilatation of lateral ventricles. During removal with the interhemispheric transcallosal approach, a videoscope that was inserted into the left lateral ventricle revealed the interface of the tumor and the ventricular wall. The tumor was pushed to the right using forceps and removed totally through the right foramen of Monro without any fornix injury. This procedure is a safe option for removing third ventricular tumors especially in the case with hydrocephalus.

  12. Pattern of congenital brain malformations at a referral hospital in Saudi Arabia: An MRI study

    International Nuclear Information System (INIS)

    Alorainy, Ibrahim A.

    2006-01-01

    More than 2000 different congenital cerebral malformations have been described in the literature, for which several classification systems have been proposed. With the help of these classification systems, it is now possible, with neuroimaging, to time neuroembtyologic events. Magnetic resonance imaging (MRI), in particular, is useful in studying these malformations. This study evaluated the pattern of congenital brain malformations in a university referral hospital setting. The records of all MRI brain examinations at our hospital over a period of 3 years for children younger than 15 years of age were reviewed. Cases of congenital cerebral malformations were analyzed by sex, age at presentation, type of congenital cerebral malformation and other associated congenital cerebral malformations. Of the 808 MR examinations of different parts of the body for children in the study period, 719 (89%), on 581 patients, were of the brain. Eighty-six children (14.8%) were found to have single or multiple congenital brain malformations. In these children, 114 congenital brain malformations were identified, the commonest being cortical migrational defects (25 patients, 22%), neural tube closure defects (22 patients, 19%), and corpus callosum dysgenesis (22 patients 19%). The least common was vascular malformation. Sixteen patients (18.6%) had more than one congenital brain malformations. Neural tube closer defects, cortical migrational abnormalities, and corpus callosum anomalies were the commonest congenital brain malformations, while vascular malformations were the least common. Most of the identified malformations demonstrated the usual pattern, but a few showed unusual patterns and associations. (author)

  13. Does post-exercise ST depression reflect local ischemia or some global effect in the left ventricle?

    Science.gov (United States)

    Carlens, P; Forssell, G; Jonasson, R; Landou, C; Orinius, E

    1985-01-01

    As exercise-induced ST depressions are most frequent and marked in lead V5 independent of which single coronary artery is obstructed, some other mechanisms of ST depressions than local ischemia should be searched for. Left ventricular hemodynamics during exercise was studied in two groups of patients with severe effort angina, 19 with and 12 without ST depression after exercise (STAE). During supine exercise until angina, stroke index became significantly lower (37 vs. 52 ml/m2) and left ventricular end-diastolic pressure (LVEDP) significantly higher (40 vs. 30 mmHg) in the STAE group. The best discriminator was the early diastolic pressure (LVeDP) (22 vs. 11 mmHg), which is interpreted as a sign of a more ischemic ventricle in the STAE group. The sum of STAE in all leads is correlated to LVeDP but not to LVEDP during exercise. The link between the significant ischemia in various locations and STAE appearing most frequently and markedly in V5 seems to be some global mechanism as the occurrence of STAE and the height of the R wave were positively correlated in the various leads. As STAE in coronary heart disease shows similar configuration and distribution as in aortic valvular stenosis and digoxin medication of healthy subjects, a possible link could be the compensatory increase in contractility in non-ischemic parts of the ventricle.

  14. General Concepts in Adult Congenital Heart Disease.

    Science.gov (United States)

    Mutluer, Ferit Onur; Çeliker, Alpay

    2018-01-20

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

  15. General Concepts in Adult Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Ferit Onur Mutluer

    2018-02-01

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

  16. Early neonatal echocardiographic findings in an experimental rabbit model of congenital diaphragmatic hernia

    Directory of Open Access Journals (Sweden)

    P.H. Manso

    2015-03-01

    Full Text Available This study aimed to demonstrate that congenital diaphragmatic hernia (CDH results in vascular abnormalities that are directly associated with the severity of pulmonary hypoplasia and hypertension. These events increase right ventricle (RV afterload and may adversely affect disease management and patient survival. Our objective was to investigate cardiac function, specifically right ventricular changes, immediately after birth and relate them to myocardial histological findings in a CDH model. Pregnant New Zealand rabbits underwent the surgical procedure at 25 days of gestation (n=14. CDH was created in one fetus per horn (n=16, and the other fetuses were used as controls (n=20. At term (30 days, fetuses were removed, immediately dried and weighed before undergoing four-parameter echocardiography. The lungs and the heart were removed, weighed, and histologically analyzed. CDH animals had smaller total lung weight (P<0.005, left lung weight (P<0.005, and lung-to-body ratio (P<0.005. Echocardiography revealed a smaller left-to-right ventricle ratio (LV/RV, P<0.005 and larger diastolic right ventricle size (DRVS, P<0.007. Histologic analysis revealed a larger number of myocytes undergoing mitotic division (186 vs 132, P<0.05 in CDH hearts. Immediate RV dilation of CDH hearts is related to myocyte mitosis increase. This information may aid the design of future strategies to address pulmonary hypertension in CDH.

  17. Endoscopic biopsy for the diagnosis of neurosarcoidosis at the fourth ventricle outlet with hydrocephalus

    Science.gov (United States)

    Yoshitomi, Munetake; Uchikado, Hisaaki; Hattori, Gohsuke; Sugita, Yasuo; Morioka, Motohiro

    2015-01-01

    Background: Fourth ventricle mass lesion in neurosarcoidosis is very rare and difficult to be diagnosed pathologically. We report a rare case of progressive hydrocephalus associated with neurosarcoidosis mass lesion located at the fourth ventricle outlet and suprasellar region. Case Description: A 23-year-old man had a disturbance of consciousness and neck stiffness with fever. Magnetic resonance imaging revealed diffuse leptomeningeal enhancement, and the obstructive mass lesions at the outlet of the fourth ventricle. We performed an endoscopic biopsy of the enhanced lesion at the foramen Magendie, via foramen Monro and the aqueduct of the midbrain. Pathologically, the diagnosis of neurosarcoidosis was confirmed, and we started treatment with prednisolone. His neurological symptoms disappeared after ventriculo-peritoneal shunt and steroid therapy, and he was discharged without deficit 40 days after emergent admission. Conclusion: Endoscopic procedure is less invasive and more effective for biopsy of neurosarcoidosis with hydrocephalus, even if the lesion is located at the fourth ventricle outlet. PMID:26682088

  18. Profiles in congenital heart disease

    International Nuclear Information System (INIS)

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

    1986-01-01

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

  19. Congenital pyriform aperture stenosis

    International Nuclear Information System (INIS)

    Osovsky, Micky; Aizer-Danon, Anat; Horev, Gadi; Sirota, Lea

    2007-01-01

    Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectional area will significantly increase nasal airway resistance. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare, unusual form of nasal obstruction. It should be considered in the differential diagnosis of any neonate or infant with signs and symptoms of upper airway compromise. It is important to differentiate this level of obstruction from the more common posterior choanal stenosis or atresia. CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclical cyanosis. (orig.)

  20. Congenital pyriform aperture stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Osovsky, Micky [Schneider Pediatric Hospital, Department of Neonatology, Petach Tikvah (Israel); Rabin Medical Center, Department of Neonatology, Schneider Children' s Medical Center of Israel, Beilinson Campus, Petah Tikvah (Israel); Aizer-Danon, Anat; Horev, Gadi [Schneider Pediatric Hospital, Department of Pediatric Radiology, Petach Tikvah (Israel); Sirota, Lea [Schneider Pediatric Hospital, Department of Neonatology, Petach Tikvah (Israel)

    2007-01-15

    Nasal airway obstruction is a potentially life-threatening condition in the newborn. Neonates are obligatory nasal breathers. The pyriform aperture is the narrowest, most anterior bony portion of the nasal airway, and a decrease in its cross-sectional area will significantly increase nasal airway resistance. Congenital nasal pyriform aperture stenosis (CNPAS) is a rare, unusual form of nasal obstruction. It should be considered in the differential diagnosis of any neonate or infant with signs and symptoms of upper airway compromise. It is important to differentiate this level of obstruction from the more common posterior choanal stenosis or atresia. CNPAS presents with symptoms of nasal airway obstruction, which are often characterized by episodic apnea and cyclical cyanosis. (orig.)

  1. Characterizing congenital amusia.

    Science.gov (United States)

    Stewart, Lauren

    2011-04-01

    The ability to make sense of the music in our environment involves sophisticated cognitive mechanisms that, for most people, are acquired effortlessly and in early life. A special population of individuals, with a disorder termed congenital amusia, report lifelong difficulties in this regard. Exploring the nature of this developmental disorder provides a window onto the cognitive architecture of typical musical processing, as well as allowing a study of the relationship between processing of music and other domains, such as language. The present article considers findings concerning pitch discrimination, pitch memory, contour processing, experiential aspects of music listening in amusia, and emerging evidence concerning the neurobiology of the disorder. A simplified model of melodic processing is outlined, and possible loci of the cognitive deficit are discussed.

  2. Neurobiology of Congenital Amusia.

    Science.gov (United States)

    Peretz, Isabelle

    2016-11-01

    The past decade of research has provided compelling evidence that musical engagement is a fundamental human trait, and its biological basis is increasingly scrutinized. In this endeavor, the detailed study of individuals who have musical deficiencies is instructive because of likely neurogenetic underpinnings. Such individuals have 'congenital amusia', an umbrella term for lifelong musical disabilities that cannot be attributed to intellectual disability, lack of exposure, or brain damage after birth. Key points are reviewed here that have emerged during recent years regarding the neurobiology of the disorder, focusing on the importance of recurrent processing between the right inferior frontal cortex and the auditory cortex for conscious monitoring of musical pitch, and how this relates to developmental cognitive disorders in general. Copyright © 2016 Elsevier Ltd. All rights reserved.

  3. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-01-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  4. Congenital sensorineural hearing loss

    Energy Technology Data Exchange (ETDEWEB)

    Mafee, M.F.; Selis, J.E.; Yannias, D.A.; Valvassori, G.E.; Pruzansky, S.; Applebaum, E.L.; Capek, V.

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  5. Congenital hypertrophy of multiple intrinsic muscles of the foot.

    Science.gov (United States)

    Shiraishi, Tomohiro; Park, Susam; Niu, Atushi; Hasegawa, Hiromi

    2014-12-01

    Congenital hypertrophy of a single intrinsic muscle of the foot is rare, and as far as we know, only six cases have been reported. We describe a case of congenital anomaly that showed hypertrophy of multiple intrinsic muscles of the foot; the affected muscles were all the intrinsic muscles of the foot except the extensor digitorum brevis or extensor hallucis. Other tissues such as adipose tissue, nervous tissue, or osseous tissue showed no abnormalities. To reduce the volume of the foot we removed parts of the enlarged muscles.

  6. Multimodality comparison of quantitative volumetric analysis of the right ventricle.

    Science.gov (United States)

    Sugeng, Lissa; Mor-Avi, Victor; Weinert, Lynn; Niel, Johannes; Ebner, Christian; Steringer-Mascherbauer, Regina; Bartolles, Ralf; Baumann, Rolf; Schummers, Georg; Lang, Roberto M; Nesser, Hans-Joachim

    2010-01-01

    We undertook volumetric analysis of the right ventricle (RV) by real-time 3-dimensional echocardiography (RT3DE), cardiac magnetic resonance (CMR), and cardiac computed tomography (CCT) on images obtained in RV-shaped phantoms and in patients with a wide range of RV geometry. Assessment of the RV by 2-dimensional (2D) echocardiography remains challenging due to its unique geometry and limitations of the current analysis techniques. RT3DE, CMR, and CCT, which can quantify RV volumes, promise to overcome the limitations of 2D echocardiography. Images were analyzed using RV Analysis software. Volumes measured in vitro were compared with the true volumes. The human protocol included 28 patients who underwent RT3DE, CMR, and CT on the same day. Volumetric analysis of CMR images was used as a reference, against which RT3DE and CCT measurements were compared using linear regression and Bland-Altman analyses. To determine the reproducibility of the volumetric analysis, repeated measurements were performed for all 3 imaging modalities in 11 patients. The in vitro measurements showed that: 1) volumetric analysis of CMR images yielded the most accurate measurements; 2) CCT measurements showed slight (4%) but consistent overestimation; and 3) RT3DE measurements showed small underestimation, but considerably wider margins of error. In humans, both RT3DE and CCT measurements correlated highly with the CMR reference (r=0.79 to 0.89) and showed the same trends of underestimation and overestimation noted in vitro. All interobserver and intraobserver variability values were <14%, with those of CMR being the highest. Volumetric quantification of RV volume was performed on CMR, CCT, and RT3DE images. Eliminating analysis-related intermodality differences allowed fair comparisons and highlighted the unique limitations of each modality. Understanding these differences promises to aid in the functional assessment of the RV. Copyright (c) 2010 American College of Cardiology Foundation

  7. Congenital fiber type disproportion.

    Science.gov (United States)

    Kissiedu, Juliana; Prayson, Richard A

    2016-04-01

    Type I muscle fiber atrophy in childhood can be encountered in a variety of neuromuscular disorders. Congenital fiber type disproportion (CFTD) is one such condition which presents as a nonprogressive muscle weakness. The diagnosis is often made after excluding other differential diagnostic considerations. We present a 2-year-9-month-old full term boy who presented at 2 months with an inability to turn his head to the right. Over the next couple of years, he showed signs of muscle weakness, broad based gait and a positive Gower's sign. He had normal levels of creatine kinase and normal electromyography. A biopsy of the vastus lateralis showed a marked variation in muscle fiber type. The adenosine triphosphate (ATP)-ase stains highlighted a marked type I muscle atrophy with rare scattered atrophic type II muscle fibers. No abnormalities were observed on the nicotinamide adenine dinucleotide (NADH), succinate dehydrogenase (SDH) or cytochrome oxidase stained sections. Ragged red fibers were not present on the trichrome stain. Abnormalities of glycogen or lipid deposition were not observed on the periodic acid-Schiff or Oil-Red-O stains. Immunostaining for muscular dystrophy associated proteins showed normal staining. Ultrastructural examination showed a normal arrangement of myofilaments, and a normal number and morphology for mitochondria. A diagnosis of CFTD was made after excluding other causes of type I atrophy including congenital myopathy. The lack of specific clinical and genetic disorder associated with CFTD suggests that it is a spectrum of a disease process and represents a diagnosis of exclusion. Copyright © 2015 Elsevier Ltd. All rights reserved.

  8. Treatment of delayed rupture of the left ventricle after mitral valve replacement

    Directory of Open Access Journals (Sweden)

    Gomes Walter J.

    2002-01-01

    Full Text Available Rupture of the left ventricle following mitral valve replacement is a catastrophic complication with deadly consequences. We report here the case of a 75-year-old man who underwent elective mitral valve replacement for severe mitral regurgitation. Delayed type 1 rupture of the left ventricle developed 3 hours postoperatively in the intensive care unit. A salvaging maneuver was used, which gained time, allowing reoperation and successful intraventricular repair.

  9. The estimation diastolic properties of the right and left heart's ventricles by a magnetic resonance imaging

    International Nuclear Information System (INIS)

    Myagkov, A.P.; Cherepok, A.A.

    2003-01-01

    On the basis of comparison of data heart's catheterization nd magnetic resonance imaging the technique of determination initial and enddiastolic pressure in heart's ventricles is developed. It has allowed to determine a diastolic extensibility, hardness, initial and enddiastolic pressure gradients for right and left ventricle. All necessary formulas and calculations techniques, control data of the models, received at the research of healthy subjects are described

  10. Dynamic change in size of the lateral ventricle evaluated by cine MRI

    International Nuclear Information System (INIS)

    Abe, Toshi

    1990-01-01

    CSF pulsation suggests variation in the size of the cerebral ventricle during the cardiac cycle. CINE MRI, which is a useful technique for observation of the pulsatile CSF flow, demonstrates a dynamic change in size of the lateral ventricle. CINE MRI was performed on a 0.5 tesla MR imaging system (SMT-50, SHIMADZU). Sixteen different phased images during cardiac cycle were made by a gradient acho technique (STAGE: Short Tip Angle Gradient Echo, TE=14 msec, Flip Angle=30deg). From the measurement of the lateral ventricular areas of two different phases of CINE MRI during cadiac cycle, variation rate of cerebral ventricular area (VRCVA) was calculated. Twenty-five normal volunteers (14 younger adults aged 27-44 years, 11 older adults aged 56-73 years) and six cases of marked diffuse cerebral atrophy were studied. The results included: The mean VRCVA of younger adults was 14.4% (at right body of lateral ventricle) ∼ 30.0% (at left anterior horn of lateral ventricle). The mean VRCVA of younger adults is higher than the mean VRCVA of older adults. In the cases of marked diffuse cerebral atrophy, the mean VRCVA was very lower than the mean VRCVA of older adults. VRCVA of lateral ventricle calculated from CINE MRI seemed to have a good relationship to the brain elasticity. This noninvasive method would be used as an indication of the elastic response of the ventricles and the surrounding brain. (J.P.N.)

  11. Selection of reference genes for gene expression studies in heart failure for left and right ventricles.

    Science.gov (United States)

    Li, Mengmeng; Rao, Man; Chen, Kai; Zhou, Jianye; Song, Jiangping

    2017-07-15

    Real-time quantitative reverse transcriptase-PCR (qRT-PCR) is a feasible tool for determining gene expression profiles, but the accuracy and reliability of the results depends on the stable expression of selected housekeeping genes in different samples. By far, researches on stable housekeeping genes in human heart failure samples are rare. Moreover the effect of heart failure on the expression of housekeeping genes in right and left ventricles is yet to be studied. Therefore we aim to provide stable housekeeping genes for both ventricles in heart failure and normal heart samples. In this study, we selected seven commonly used housekeeping genes as candidates. By using the qRT-PCR, the expression levels of ACTB, RAB7A, GAPDH, REEP5, RPL5, PSMB4 and VCP in eight heart failure and four normal heart samples were assessed. The stability of candidate housekeeping genes was evaluated by geNorm and Normfinder softwares. GAPDH showed the least variation in all heart samples. Results also indicated the difference of gene expression existed in heart failure left and right ventricles. GAPDH had the highest expression stability in both heart failure and normal heart samples. We also propose using different sets of housekeeping genes for left and right ventricles respectively. The combination of RPL5, GAPDH and PSMB4 is suitable for the right ventricle and the combination of GAPDH, REEP5 and RAB7A is suitable for the left ventricle. Copyright © 2017 Elsevier B.V. All rights reserved.

  12. Genetics Home Reference: congenital hyperinsulinism

    Science.gov (United States)

    ... people with congenital hyperinsulinism can also occur after eating. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  13. Neuroendoscopic management of posterior third ventricle ependymoma with intraaqueductal and fourth ventricle extension: a case report and review of the literature.

    Science.gov (United States)

    Prat-Acín, Ricardo; Evangelista, Rocío; Conde, Rebeca; Ayuso-Sacido, Angel; Galeano, Inma

    2017-11-01

    Posterior third ventricle ependymomas with intraaqueductal extension are relatively infrequent lesions. Its surgical management represents a formidable technical challenge and includes a wide variety of approaches. Minimally invasive surgery including the endoscopic management can play a crucial role to obtain an optimal clinical outcome. We report the clinical outcome of an 11-year-old female patient with a 6-year history of recurrent episodes of headache and vomiting. On brain MRI a posterior third ventricle lesion with extension to the aqueduct of Sylvius and fourth ventricle, and associated hydrocephalus was observed. Our management of the lesion included a two-step endoscopic surgery: first an anterior third ventriculostomy and biopsy of the lesion that was reported to be a low-grade ependymoma, and posteriorly an endoscopic-assisted resection of the lesion. Clinical outcome was optimal without neurological sequelae. The postoperative MRI showed a thickened ependymal area on the tumor base of implantation. It was considered to be a remnant of the lesion and subsequently treated with radiotherapy. Posterior third ventricle ependymomas with intraaqueductal extension can be endoscopically managed to obtain a successful outcome.

  14. Congenital and perinatal cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Chun Soo Kim

    2010-01-01

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

  15. In silico investigation of the short QT syndrome, using human ventricle models incorporating electromechanical coupling

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    Ismail eAdeniran

    2013-07-01

    Full Text Available Introduction Genetic forms of the Short QT Syndrome (SQTS arise due to cardiac ion channel mutations leading to accelerated ventricular repolarisation, arrhythmias and sudden cardiac death. Results from experimental and simulation studies suggest that changes to refractoriness and tissue vulnerability produce a substrate favourable to re-entry. Potential electromechanical consequences of the SQTS are less well understood. The aim of this study was to utilize electromechanically coupled human ventricle models to explore electromechanical consequences of the SQTS. Methods and results: The Rice et al. mechanical model was coupled to the ten Tusscher et al. ventricular cell model. Previously validated K+ channel formulations for SQT variants 1 and 3 were incorporated. Functional effects of the SQTS mutations on transients, sarcomere length shortening and contractile force at the single cell level were evaluated with and without the consideration of stretch activated channel current (Isac. Without Isac, the SQTS mutations produced dramatic reductions in the amplitude of transients, sarcomere length shortening and contractile force. When Isac was incorporated, there was a considerable attenuation of the effects of SQTS-associated action potential shortening on Ca2+ transients, sarcomere shortening and contractile force. Single cell models were then incorporated into 3D human ventricular tissue models. The timing of maximum deformation was delayed in the SQTS setting compared to control. Conclusion: The incorporation of Isac appears to be an important consideration in modelling functional effects of SQT 1 and 3 mutations on cardiac electro-mechanical coupling. Whilst there is little evidence of profoundly impaired cardiac contractile function in SQTS patients, our 3D simulations correlate qualitatively with reported evidence for dissociation between ventricular repolarization and the end of mechanical systole.

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

    Science.gov (United States)

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

    2016-01-01

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

  17. Preventing congenital toxoplasmosis.

    Science.gov (United States)

    Lopez, A; Dietz, V J; Wilson, M; Navin, T R; Jones, J L

    2000-03-31

    Toxoplasmosis is caused by infection with the protozoan parasite Toxoplasma gondii. Acute infections in pregnant women can be transmitted to the fetus and cause severe illness (e.g., mental retardation, blindness, and epilepsy). An estimated 400-4,000 cases of congenital toxoplasmosis occur each year in the United States. Of the 750 deaths attributed to toxoplasmosis each year, 375 (50%) are believed to be caused by eating contaminated meat, making toxoplasmosis the third leading cause of foodborne deaths in this country. Toxoplasma can be transmitted to humans by three principal routes: a) ingestion of raw or inadequately cooked infected meat; b) ingestion of oocysts, an environmentally resistant form of the organism that cats pass in their feces, with exposure of humans occurring through exposure to cat litter or soil (e.g., from gardening or unwashed fruits or vegetables); and c) a newly infected pregnant woman passing the infection to her unborn fetus. RECOMMENDATIONSFOR PREVENTION: Toxoplasma infection can be prevented in large part by a) cooking meat to a safe temperature (i.e., one sufficient to kill Toxoplasma); b) peeling or thoroughly washing fruits and vegetables before eating; c) cleaning cooking surfaces and utensils afterthey have contacted raw meat, poultry, seafood, or unwashed fruits or vegetables; d) pregnant women avoiding changing cat litter or, if no one else is available to change the cat litter, using gloves, then washing hands thoroughly; and e) not feeding raw or undercooked meat to cats and keeping cats inside to prevent acquisition of Toxoplasma by eating infected prey. Priorities for research were discussed at a national workshop sponsored by CDC in September 1998 and include a) improving estimates of the burden of toxoplasmosis, b) improving diagnostic tests to determine when a person becomes infected with Toxoplasma, and c) determining the applicability of national screening programs. Many cases of congenital toxoplasmosis can be

  18. Autobiographic narratives of congenital blind people

    Directory of Open Access Journals (Sweden)

    Maria Elisa Caputo Ferreira

    2009-12-01

    Full Text Available The research carried out in Juiz de Fora, MG, Brazil, intended at investigating, together with men and women who suffer from congenital visual impairment, how they felt about diversity, body image, self-esteem and vanity. The investigation of autobiographical accounts was the option for this study. Initially, 20 (twenty interviews were analyzed and 6 (six autobiographical accounts, selected from the peculiarities of each single interviewee – each one containing his/her single life lessons - followed suit. The conclusion reached is that the subjects had undergone an exhausting process of acceptance of their own impairment. If, on the one hand, the blindness comes with angst, uncertainties, and many difficulties, on the other hand, these circumstances lead the blind to face the ups and downs of life with courage, determination and will to live. Surprisingly, in the study the body was not approached at a source of concern or are which should be emphasized.

  19. Right ventricle contractility during early postoperative period after coronary artery bypass grafting with cardiopulmonary bypass

    Directory of Open Access Journals (Sweden)

    А. Е. Баутин

    2015-10-01

    Full Text Available Emphasis in this research was placed on contractility of the right ventricle with regard to its relationship with systemic hemodynamics in patients undergoing coronary artery bypass grafting (CABG under cardiopulmonary bypass (CPB. The study included 25 patients (14 males, 11 females, mean age was 587 years admitted to ICU after CABG under CPB. All patients required inotropic therapy. The criterion for prescribing inotropic support in the postoperative period was a drop of the stroke volume index of the left ventricle below 35 ml/m 2 provided that the values of this indicator were normal before the perfusion period. Patients with previous pathology of the right ventricle or right coronary artery were excluded from the study. To evaluate the right ventricular function and systemic hemodynamics indicators, use was made of the PiCCO plus system and VoLEF addon device. It was found out that reduced contractility of the right ventricle may cause the reduction in stroke volume of the left ventricle with normal contractility. It was also observed that the increase of preload in patients with right ventricular ejection fraction less than 30% does not improve its function but leads to the increase of its end-diastolic volume. In 68% of cases, the need in inotropic agents in the early postoperative period after CABG was associated with the drop in right ventricle contractility, in 40% - with isolated right ven-tricular dysfunction. Patients with isolated reduction in right ventricle contractility required a longer period of inotropic support and ICU stay as compared with those with left ventricular failure.

  20. 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.

  1. Congenital Progressive Mutilating Hemangioma

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    Anastasiya Chokoeva

    2017-06-01

    Full Text Available A 73-year-old male patient was admitted with symptoms of decompensated cardiac and pulmonary insufficiency with long-lasting history. A tumor-like formation was observed within the clinical examination, covering the whole skin of the nose, paranasal region of the left part of the face, as well as the upper and lower left eyelids. The lesion was with yellow to brownish surface and dark-reddish to violet discolored peripheral area, composed of nodular formations, smooth central surface and firm texture on palpation. The histopathological examination verified the diagnosis of hemangioma, which had been congenital, regarding the patient’s history, treated surgically about 50 years ago, with signs of recurrence. The presented patient had been treated surgically at the age of 20, without medical evidence of the type of the performed excision. The recurrence occurs almost 50 years later, at the age of 78. To the best of our knowledge, this is the first reported recurrence of infantile hemangioma, treated surgically almost 50 years ago.

  2. [Penile congenital abnormalities].

    Science.gov (United States)

    Boillot, B; Teklali, Y; Moog, R; Droupy, S

    2013-07-01

    Congenital abnormalities of the penis are usually diagnosed at birth and pose aesthetic and functional problems sometimes requiring surgical management. A literature review was conducted on Medline considering the articles listed until January 2012. Hypospadias is the most common malformation (1 in 250 boys. Familial forms: 7%). The causes remain hypothetical but the doubling of the incidence in 30 years could be linked to fetal exposure to endocrine disruptors "estrogen-like" used in the food industry in particular. Surgical treatment is usually intended to improve the aesthetic appearance but sometimes, in case of significant curvature or posterior meatus, necessary for normal sexual life and fertility. Other malformations (epispades, buried penis, transpositions, twists and preputial abnormalities) as well as management for functional or aesthetic consequences of these malformations in adulthood require complex surgical care in a specialized environment. The improvement of surgical techniques and pediatric anesthesia allows an early and effective specialized surgical approach of penile malformations. Management of sequelae in adulthood must be discussed and requires experience of surgical techniques on pediatric and adult penis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  3. Congenital Short QT Syndrome

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    Charles Antzelevitch

    2004-04-01

    Full Text Available Long QT intervals in the ECG have long been associated with sudden cardiac death. The congenital long QT syndrome was first described in individuals with structurally normal hearts in 1957.1 Little was known about the significance of a short QT interval. In 1993, after analyzing 6693 consecutive Holter recordings Algra et al concluded that an increased risk of sudden death was present not only in patients with long QT interval, but also in patients with short QT interval (<400 ms.2 Because this was a retrospective analysis, further evaluation of the data was not possible. It was not until 2000 that a short-QT syndrome (SQTS was proposed as a new inherited clinical syndrome by Gussak et al.3 The initial report was of two siblings and their mother all of whom displayed persistently short QT interval. The youngest was a 17 year old female presenting with several episodes of paroxysmal atrial fibrillation requiring electrical cardioversion.3 Her QT interval measured 280 msec at a heart rate of 69. Her 21 year old brother displayed a QT interval of 272 msec at a heart rate of 58, whereas the 51 year old mother showed a QT of 260 msec at a heart rate of 74. The authors also noted similar ECG findings in another unrelated 37 year old patient associated with sudden cardiac death.

  4. Congenital parotid fistula

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    Shiggaon Natasha

    2014-01-01

    Full Text Available Parotid fistula is a cause of great distress and embarrassment to the patient. Parotid fistula is most commonly a post-traumatic situation. Congenital parotid salivary fistulas are unusual entities that can arise from accessory parotid glands or even more infrequently, from normal parotid glands through an aberrant Stensen′s duct. The treatment of fistulous tract is usually surgical and can be successfully excised after making a skin incision along the skin tension line around the fistula opening. This report describes a case of right accessory parotid gland fistula of a 4-year-old boy with discharge of pus from right cheek. Computed tomography (CT fistulography and CT sialography demonstrated fistulous tract arising from accessory parotid gland. Both CT fistulography and CT sialography are very helpful in the diagnosis and surgical planning. In this case, superficial parotidectomy is the treatment of choice. A detailed history, clinical and functional examination, proper salivary gland investigations facilitates in correct diagnosis followed by immediate surgical intervention helps us to restore physical, psychological health of the child patient.

  5. [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.

  6. Congenital dyserythropoietic anemias.

    Science.gov (United States)

    Iolascon, Achille; Russo, Roberta; Delaunay, Jean

    2011-05-01

    Congenital dyserythropoietic anemias (CDAs) are rare hereditary disorders characterized by ineffective erythropoiesis and by distinct morphological abnormalities of erythroblasts in the bone marrow. Characteristic morphological aberrations were the cornerstone of diagnosis, but following the identification of several causative genes, the molecular approach could represent a rapid tool for the identification of these conditions. This review presents advances in diagnosis and classification of CDAs. The classification of CDAs has long been based on morphological features. Now, the discovery of some of the responsible genes allows reconsideration of part of the classification. The first CDA partly accounted for genetically has been CDA 1, through the discovery in 2002 of the gene responsible, CDAN1, encoding codanin-1. Recently, the dramatic identification of the genes responsible for CDA II, SEC23B, and for a hitherto unnamed CDA, KLF1, took place. SEC23B encodes SEC23B which is a component of the coated vesicles transiting from the endoplasmic reticulum to the cis compartment of the Golgi apparatus. A unique mutation in KLF1, which encodes the erythroid transcription factor KLF1, causes major ultrastructural abnormalities, the persistence of embryonic and fetal hemoglobins, and the absence of some red cell membrane proteins. Studies of genotype-phenotype relationship, as has already been done for CDA II, will allow a more accurate prognosis. Identification of the responsible genes has opened new vistas for research on CDAs.

  7. Congenital parasitic infections: a review.

    Science.gov (United States)

    Carlier, Yves; Truyens, Carine; Deloron, Philippe; Peyron, François

    2012-02-01

    This review defines the concepts of maternal-fetal (congenital) and vertical transmissions (mother-to-child) of pathogens and specifies the human parasites susceptible to be congenitally transferred. It highlights the epidemiological features of this transmission mode for the three main congenital parasitic infections due to Toxoplasma gondii, Trypanosoma cruzi and Plasmodium sp. Information on the possible maternal-fetal routes of transmission, the placental responses to infection and timing of parasite transmission are synthesized and compared. The factors susceptible to be involved in parasite transmission and development of congenital parasitic diseases, such as the parasite genotypes, the maternal co-infections and parasitic load, the immunological features of pregnant women and the capacity of some fetuses/neonates to overcome their immunological immaturity to mount an immune response against the transmitted parasites are also discussed and compared. Analysis of clinical data indicates that parasitic congenital infections are often asymptomatic, whereas symptomatic newborns generally display non-specific symptoms. The long-term consequences of congenital infections are also mentioned, such as the imprinting of neonatal immune system and the possible trans-generational transmission. The detection of infection in pregnant women is mainly based on standard serological or parasitological investigations. Amniocentesis and cordocentesis can be used for the detection of some fetal infections. The neonatal infection can be assessed using parasitological, molecular or immunological methods; the place of PCR in such neonatal diagnosis is discussed. When such laboratory diagnosis is not possible at birth or in the first weeks of life, standard serological investigations can also be performed 8-10 months after birth, to avoid detection of maternal transmitted antibodies. The specific aspects of treatment of T. gondii, T. cruzi and Plasmodium congenital infections are

  8. Pattern of congenital orthopeadic malformations in an African ...

    African Journals Online (AJOL)

    Conclusion: Congenital talipes equinovarus deformity is the most common congenital orthopaedic malformation in this environment while congenital hip dislocation (CDH) is rare when compared with the Caucasians. Keywords: congenital malformations, orthopaedic, environment. West African Journal of Medicine Vol.

  9. Congenital malformations in neonates: analysis of morbidity and associated factors

    Directory of Open Access Journals (Sweden)

    Rosana Alves de Melo

    2017-06-01

    Full Text Available Objective: To evaluate the neonatal morbidity due to congenital malformations in the city of Petrolina-PE, from 2008 to 2013. Methods: A descriptive study with data from the Information System on Live Births (Sinasc. The analyzes were carried out through frequency distribution and measures of central tendency and dispersion. The associations were tested by the Pearson and Kruskal Wallis chi-square tests. Significance was set at 5% and 95% confidence. Results: 436 cases of congenital malformations were recorded in the study period, with 2011 being the highest occurrence year. The mothers of the newborns were young (25.2 years old, single, upper level of education and household. In general multiparous, with single gestation, vaginal delivery and performed up to six prenatal visits. The newborns were males, at 39 weeks or more of gestation and with normal weight (> = 2500g. The malformations of the musculoskeletal system were the most frequent followed by the genitourinary system. Congenital malformations were especially associated with neonatal characteristics such as gender and weight. In all causes the mean weight was greater than 2500g (p 0.05. Conclusion: The present study evidenced relevant aspects in the occurrence of morbidities due to congenital malformations, directing to a greater attention the occurrence of these diseases especially in relation to the newborn.

  10. Comparative evaluation of the ventricles in the Yorkshire Terrier and the German Shepherd dog using low-field MRI.

    Science.gov (United States)

    Esteve-Ratsch, B; Kneissl, S; Gabler, C

    2001-01-01

    MR images provide for the exact assessment of the brain, including ventricular size. Still inter- and intrabreed comparison of ventricle size is difficult due to the varying anatomies in dogs. To compare the ventricle area of different sized breeds, 25 dogs (13 Yorkshire Terriers and 12 German Shepard dogs) were reviewed, retrospectively. Hemisphere and ventricle of each side were outlined manually three times. All measurements were averaged and their percentage (ventricle area by hemisphere area) was defined as the relative ventricle area. This value in Yorkshire Terriers (5.3) was significantly higher compared to German Shepard dogs (1.7). However, on the basis of the neurologically symptomatic sample (7 Yorkshire Terriers) in this study, threshold values of normal and abnormal relative ventricle areas could not be detected.

  11. Evaluating the systemic right ventricle by CMR: the importance of consistent and reproducible delineation of the cavity

    Directory of Open Access Journals (Sweden)

    van Dijk Arie PJ

    2008-08-01

    Full Text Available Abstract Background The method used to delineate the boundary of the right ventricle (RV, relative to the trabeculations and papillary muscles in cardiovascular magnetic resonance (CMR ventricular volume analysis, may matter more when these structures are hypertrophied than in individuals with normal cardiovascular anatomy. This study aimed to compare two methods of cavity delineation in patients with systemic RV. Methods Twenty-nine patients (mean age 34.7 ± 12.4 years with a systemic RV (12 with congenitally corrected transposition of the great arteries (ccTGA and 17 with atrially switched (TGA underwent CMR. We compared measurements of systemic RV volumes and function using two analysis protocols. The RV trabeculations and papillary muscles were either included in the calculated blood volume, the boundary drawn immediately within the apparently compacted myocardial layer, or they were manually outlined and excluded. RV stroke volume (SV calculated using each method was compared with corresponding left ventricular (LV SV. Additionally, we compared the differences in analysis time, and in intra- and inter-observer variability between the two methods. Paired samples t-test was used to test for differences in volumes, function and analysis time between the two methods. Differences in intra- and inter-observer reproducibility were tested using an extension of the Bland-Altman method. Results The inclusion of trabeculations and papillary muscles in the ventricular volume resulted in higher values for systemic RV end diastolic volume (mean difference 28.7 ± 10.6 ml, p Conclusion The choice of method for systemic RV cavity delineation significantly affected volume measurements, given the CMR acquisition and analysis systems used. We recommend delineation outside the trabeculations for routine clinical measurements of systemic RV volumes as this approach took less time and gave more reproducible measurements.

  12. Relation of physical activity, cardiac function, exercise capacity, and quality of life in patients with a systemic right ventricle.

    Science.gov (United States)

    Winter, Michiel M; Bouma, Berto J; van Dijk, Arie P J; Groenink, Maarten; Nieuwkerk, Pythia T; van der Plas, Mart N; Sieswerda, Gertjan T; Konings, Thelma C; Mulder, Barbara J M

    2008-11-01

    Exercise is recommended in patients with left ventricular failure. Although right ventricular failure is common in patients with a systemic right ventricle (RV), no data are available on the effect of physical activity in these patients. The aim of this study was to evaluate the relation of physical activity and cardiac function, exercise capacity, and quality of life in patients with a systemic RV. Forty-seven patients (64% men, mean age 35 years, range 21 to 69) with a systemic RV (31 with an atrially switched transposition of the great arteries and 16 with a congenitally corrected transposition of the great arteries) were included. Cardiac function was assessed by cardiovascular magnetic resonance or computed tomography, exercise tests, and serum N-terminal prohormone brain natriuretic peptide (NT-pro-BNP) levels. Habitual physical activity was assessed using the Short Questionnaire to Assess Health-Enhancing Physical Activity (SQUASH) and quality of life using the Medical Outcomes Study Short Form 36-Item Health Survey. Mean systemic right ventricular ejection fraction was impaired (36.8 +/- 7.8%), as was maximal exercise capacity (78.5 +/- 23.9% of predicted). NT-pro-BNP level was increased (median 269 ng/L, range 34 to 4,476). Mean SQUASH score was 6,808 +/- 3,241, indicating a decreased level of habitual physical activity. Although patients' scores on mental quality-of-life domains were comparable to the general population, scores on most physical quality-of-life domains were significantly lower. SQUASH scores were found to be a significant predictor for exercise capacity (p life (p right ventricular ejection fraction or NT-pro-BNP. In conclusion, physical activity in patients with a systemic RV is positively associated with exercise capacity and quality of life, irrespective of cardiac performance.

  13. An Overview of Techniques for Cardiac Left Ventricle Segmentation on Short-Axis MRI

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    Krasnobaev Arseny

    2016-01-01

    Full Text Available Nowadays, heart diseases are the leading cause of death. Left ventricle segmentation of a human heart in magnetic resonance images (MRI is a crucial step in both cardiac diseases diagnostics and heart internal structure reconstruction. It allows estimating such important parameters as ejection faction, left ventricle myocardium mass, stroke volume, etc. In addition, left ventricle segmentation helps to construct the personalized heart computational models in order to conduct the numerical simulations. At present, the fully automated cardiac segmentation methods still do not meet the accuracy requirements. We present an overview of left ventricle segmentation algorithms on short-axis MRI. A wide variety of completely different approaches are used for cardiac segmentation, including machine learning, graph-based methods, deformable models, and low-level heuristics. The current state-of-the-art technique is a combination of deformable models with advanced machine learning methods, such as deep learning or Markov random fields. We expect that approaches based on deep belief networks are the most promising ones because the main training process of networks with this architecture can be performed on the unlabelled data. In order to improve the quality of left ventricle segmentation algorithms, we need more datasets with labelled cardiac MRI data in open access.

  14. Serial right ventricle 201Tl imaging after exercise: relation to anatomy of the right coronary artery

    International Nuclear Information System (INIS)

    Brown, K.A.; Boucher, C.A.; Okada, R.D.; Strauss, H.W.; McKusick, K.A.; Pohost, G.M.

    1982-01-01

    The relation of the appearance of the right ventricle on serium 201 Tl myocardial imaging to coronary artery anatomy was examined in 88 consecutive patients undergoing exercise 201 Tl testing and coronary angiography for the evaluation of chest pain. Transient defects in the right ventricle were found in 8 patients. All had high grade (greater than or equal to 90%) stenosis of the proximal right coronary artery. Nonvisualization of right ventricular (RV) activity occurred in 10 patients. Nine of the 10 (90%) had significant (greater than or equal to 50% stenosis) disease of the proximal right coronary artery and 7 (70%) had high grade stenosis. The right ventricle appeared normal in 70 patients. Twenty-nine (41%) of these patients had significant proximal right coronary artery disease. Right ventricular appearance was not affected by the presence or absence of disease of the left anterior descending or left circumflex artery or by the appearance of the left ventricle. Thus, with serial RV thallium-201 myocardial imaging after exercise, we found that (1) RV transient defects suggest the presence of high grade proximal right coronary artery stenosis, (2) non-visualization of RV activity also predicts significant proximal right coronary disease, and (3) the right ventricle frequently appears normal despite proximal right coronary artery disease and therefore this finding does not exclude such disease

  15. Quantitative 3D analysis of shape dynamics of the left ventricle

    Science.gov (United States)

    Scowen, Barry C.; Smith, Stephen L.; Vannan, Mani A.; Arsenault, Marie

    1998-07-01

    There is an established link between Left Ventricular (LV) geometry and its performance. As a consequence of ischemic heart disease and the attempt to relieve myocardial tissue stress, ventricle shape begins to distort from a conical to spherical geometry with a reduction in pumping efficiency of the chamber. If untreated, premature heart failure will result. To increase the changes of successful treatment it is obviously important for the benefit of the patient to detect these abnormalities as soon as possible. It is the development of a technique to characterize and quantify the shape of the left ventricle that is described here. The system described in this paper uses a novel helix model which combines the advantages of current two dimensional (2D) quantitative measures which provide limited information, with 3D qualitative methods which provide accurate reconstructions of the LV using computationally expensive rendering schemes. A phantom object and dog ventricle (normal/abnormal) were imaged and helical models constructed. The result are encouraging with differences between normal and abnormal ventricles in both diastole and systole able to be determined. Further work entails building a library of subjects in order to determine the relationship between ventricle geometry and quantitative measurements.

  16. Coronary reserve of the right ventricle evaluated by double dose Tl-201 scintigraphy

    International Nuclear Information System (INIS)

    Sugihara, Hiroki; Adachi, Haruhiko; Nakagawa, Hiroaki

    1985-01-01

    Thallium-201 double dose scintigraphy was applied to exercise to estimate the coronary blood flow reserve of the left and right ventricles and this was compared with the degree of coronary artery stenosis. As an index of coronary reserve we measured the rate of change of blood flow distribution (ΔF) calculated from the change in myocardial radioactivity following thallium-201 injections, once at rest and once during exercise. With submaximal exercise the increases in ΔF of the left ventricle were less in patients with ischemic heart disease than in the control subjects, and were less as the number of diseased coronary vessels increased. The increases of ΔF of the right ventricle were less in patients with stenosis of the proximal portion of the right coronary artery than in patients without stenosis and in the control subjects. The more severe the stenosis of the proximal portion of the right coronary artery, the smaller the ΔF of the right ventricle. These results indicate that evaluation of the ΔF in the left and right ventricles is useful in estimating coronary artery stenosis. (author)

  17. Congenital syphilis has not disappeared.

    Science.gov (United States)

    Lane, G K; Oates, R K

    1988-02-15

    Thirty-three cases of congenital syphilis that were seen at The Children's Hospital, Camperdown, over a 34-year period were reviewed. Twenty-nine cases were examples of early congenital syphilis, as the patients developed clinical features in the first two years of life, and the other four cases were examples of late congenital syphilis, with the clinical features developing between two years and nine months of age and 10 years of age. Twenty-five patients were symptomatic at the time of admission to hospital. The most common clinical feature on the patient's presentation to hospital was a maculopapular or vesiculobullous skin eruption which occurred in 13 of the infants. Hepatic and splenic enlargement were present in 12 cases, and nine children had the "snuffles". Five of the children died. Patient follow-up occurred in fewer than 40% of cases and three of the children who were followed-up suffer from developmental delay. Congenital syphilis can occur in all social groups but is most common in infants who are premature or are small for gestational age and are born to young, unmarried mothers of low socioeconomic status. The treatment of congenital syphilis is simple and effective although the patients may need to be linked with community-health facilities to assist in their compliance with follow-up appointments.

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

    International Nuclear Information System (INIS)

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

    2007-01-01

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

  19. Multiple congenital PSS in a dog: case report and literature review.

    Science.gov (United States)

    Leeman, Jessica J; Kim, Stanley E; Reese, David J; Risselada, Marije; Ellison, Gary W

    2013-01-01

    A 4 yr old spayed female mixed-breed dog presented with a 2 yr history of recurring increases in liver enzymes. Two congenital portosystemic shunts (PSSs) were identified using computed tomography (CT) angiography, which included a portoazygous and portorenal extrahepatic shunt. Double right renal veins were also identified. The shunts were successfully identified and attenuated with cellophane banding. Multiple congenital PSS is a rare phenomenon, but should be considered during exploratory laparotomy for PSS and in dogs with poor response to surgical attenuation of a single PSS. CT proved to be a crucial part of accurate diagnosis and surgical planning for this dog with multiple congenital PSS.

  20. Genetics Home Reference: nonbullous congenital ichthyosiform erythroderma

    Science.gov (United States)

    ... red (erythroderma) and covered with fine, white scales (ichthyosis). Infants with NBCIE may develop infections, an excessive ... 8 links) Genetic Testing Registry: Autosomal recessive congenital ichthyosis 2 Genetic Testing Registry: Autosomal recessive congenital ichthyosis ...

  1. Genetics Home Reference: congenital leptin deficiency

    Science.gov (United States)

    ... Description Congenital leptin deficiency is a condition that causes severe obesity beginning in the first few months of life. ... are unknown. Congenital leptin deficiency is a rare cause of obesity. Researchers are studying the factors involved in more ...

  2. Genetic Counseling for Congenital Heart Defects

    Science.gov (United States)

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

  3. Genetics Home Reference: congenital dyserythropoietic anemia

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions CDA Congenital dyserythropoietic anemia Printable PDF Open All Close All Enable Javascript ... view the expand/collapse boxes. Description Congenital dyserythropoietic anemia ( CDA ) is an inherited blood disorder that affects ...

  4. Insulin-like peptide 3 (INSL3) in men with congenital hypogonadotropic hypogonadism/Kallmann syndrome and effects of different modalities of hormonal treatment: a single-center study of 281 patients.

    Science.gov (United States)

    Trabado, Séverine; Maione, Luigi; Bry-Gauillard, Hélène; Affres, Hélène; Salenave, Sylvie; Sarfati, Julie; Bouvattier, Claire; Delemer, Brigitte; Chanson, Philippe; Le Bouc, Yves; Brailly-Tabard, Sylvie; Young, Jacques

    2014-02-01

    Insulin-like factor 3 (INSL3) is a testicular hormone secreted during fetal life, the neonatal period, and after puberty. To measure INSL3 levels in a large series of men with congenital hypogonadotropic hypogonadism (CHH)/ Kallmann syndrome (KS), in order to assess its diagnostic value and to investigate its regulation. We studied 281 CHH/KS patients (91 untreated, 96 receiving T, and 94 receiving combined gonadotropin therapy [human chorionic gonadotropin, hCG, and FSH]) and 72 age-matched healthy men. Serum INSL3 was immunoassayed with a validated RIA. Mean (±SD) INSL3 levels (pg/mL) were 659 ± 279 in controls and lower (60 ± 43; P CHH/KS patients, with no overlap between the two groups, when the threshold of 250 pg/mL was used. Basal INSL3 levels were lower in both untreated CHH/KS men with cryptorchidism than in those with intrascrotal testes and in patients with testicular volumes below 4 mL. Significant positive correlations between INSL3 and both serum total T and LH levels were observed in untreated CHH/KS. Mean INSL3 levels remained low in T-treated CHH/KS patients and were significantly higher in men receiving combined hCG-FSH therapy (P CHH/KS. INSL3 is as sensitive a marker as T for the evaluation of altered Leydig cell function in CHH/KS patients. INSL3 levels correlate with LH levels in CHH/KS men showing, together with the rise in INSL3 levels during hCG therapy, that INSL3 secretion seems not constitutively secreted during adulthood but is dependence on pituitary LH.

  5. Congenital Malformations Associated with Maternal Diabetes

    Directory of Open Access Journals (Sweden)

    Chih-Ping Chen

    2005-03-01

    Full Text Available Maternal diabetes has toxic effects on the development of the embryo and significantly increases the risk of congenital malformations in humans. The incidence of fetal structural defects caused by maternal pregestational diabetes is three- to fourfold higher than that caused by non-diabetic pregnancy. The congenital malformations associated with diabetic pregnancy arise before the seventh gestational week. Diabetic embryopathy can affect any developing organ system, including the central nervous system (CNS (anencephaly, spina bifida, microcephaly, and holoprosencephaly, skeletal system (caudal regression syndrome, sacral agenesis, and limb defects, renal system (renal agenesis, hydronephrosis, and ureteric abnormalities, cardiovascular system (transposition of the great vessels, ventricular septal defects, atrial septal defects, coarctation of the aorta, cardiomyopathy, and single umbilical artery, and gastrointestinal system (duodenal atresia, anorectal atresia, and small left colon syndrome. Pregnant women with fetuses with diabetic embryopathy may have chronic or unrecognized hyperglycemia and elevated levels of glycerated hemoglobin. This review emphasizes the necessity to consider hyperglycemia-induced teratogenesis during genetic counseling of parents with prenatally detected fetal malformations. Successful preconception counseling for women with diabetes mellitus and metabolic control will reduce birth defects and maternal morbidity.

  6. Fibrous incudostapedial joint in congenital aural atresia.

    Science.gov (United States)

    Balaker, Ashley E; Roberson, Joseph B; Goldsztein, Hernan

    2014-04-01

    (1) Determine the prevalence of a non-bony or fibrous incudostapedial (IS) joint in the setting of congenital aural atresia. (2) Assess this anomaly's impact on surgical management and associated hearing outcomes. Retrospective chart review. Subspecialty private practice. Operative reports and audiometric data of patients who underwent congenital aural atresia repair by a single surgeon from 2007 to 2011 were reviewed for operative anatomic findings and audiometric outcomes. Two hundred twenty-eight operations on 206 ears were performed. Median age was 5 years old. Fifty-five (26.7%) of these ears had a fibrous IS joint. The severity of this anomaly was graded as mild in 23 ears, moderate in 20 ears, and severe in 12 ears. Mean postoperative pure tone air conduction (PTA2) in the severely fibrous group was 51 compared to 46 in the moderate group (P = .03) and 41 in the mild group (P = .006). Patients with a fibrous IS joint who underwent successful ossicular chain reconstruction (OCR) had a mean postoperative PTA2 of 30, which was a significantly better outcome than in patients with moderately or severely fibrous IS joints who did not have OCR (P atresia. The severity of this anomaly has important implications for postoperative hearing results. These findings suggest that ossicular chain reconstruction should be performed in moderately or severely fibrous cases.

  7. Cerebral palsy and congenital malformations

    DEFF Research Database (Denmark)

    Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge

    2007-01-01

    AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...

  8. SPECIFICS OF LEFT VENTRICLE REMODELLING IN CHILDREN WHO HAVE HAD DIPHTHERITIC CARDITIS

    Directory of Open Access Journals (Sweden)

    U.K. Gadzhieva

    2009-01-01

    Full Text Available Carditis has a special place among diphtheritic complications determining a disease prognosis. The article provides results of studying a functional status of cardiac muscle in children who have had diphtheritic complications in the short-term (2–3 years; n = 35 and longterm (9–10 years; n = 15 follow-up. Echo cardiographic test showed there were three hemodynamic options available for diphtheritic carditis development: normal volumetric parameters of the left ventricle cavity; an enlarged left ventricle cavity and reduced myocardial contractility (dilated cardiomyopathy; a reduced left ventricle cavity with intact myocardial contractility (diastolic dysfunction. Including vitamin E and Carnitine chloride into the treatment for children who have had Diphtheritic Carditis results in improvements both to the cardiac systolic and diastolic functions.Key words: children, diphtheritic carditis, cardiac remodelling, cardiomyopathy, diastolic function.

  9. CHOROID PLEXUS PAPILLOMA OF THE 3 RD VENTRICLE- A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Ezhil Arasi Nagamuthu

    2016-10-01

    Full Text Available BACKGROUND Choroid Plexus Papillomas (CPPs are rare intracranial neoplasms especially in the third ventricle. The most common site of presentation of these lesions is in the fourth ventricle in adults and lateral ventricles in children. Third ventricular lesion is uncommon, limited to a few case reports. These highly vascular tumours retain the physiological function of choroid plexus and thus lead to overproduction of Cerebrospinal Fluid (CSF besides obstructing the pathway resulting in hydrocephalus. CT and MRI are the investigations of choice and are diagnostic. Surgical management vary according to the site of tumour and aim is complete excision of tumour. We present an interesting report of a 5 months old infant who presented with symptoms of raised intracranial pressure whose CT revealed third ventricular CPP. After ventriculoperitoneal shunt, tumour was excised. Pathological examination revealed choroid plexus papilloma.

  10. Testosterone affects hormone-sensitive lipase (HSL) activity and lipid metabolism in the left ventricle

    DEFF Research Database (Denmark)

    Langfort, Jozef; Jagsz, Slawomir; Dobrzyn, Pawel

    2010-01-01

    tissue suggests that testosterone regulates HSL activity. To test whether this is also true in the heart, we measured HSL activity in the left ventricle of sedentary male rats that had been treated with testosterone supplementation or orchidectomy with or without testosterone substitution. Left ventricle...... HSL activity against TG was significantly elevated in intact rats supplemented with testosterone. HSL activity against both TG and diacylglyceride was reduced by orchidectomy, whereas testosterone replacement fully reversed this effect. Moreover, testosterone increased left ventricle free fatty acid...... levels, caused an inhibitory effect on carbohydrate metabolism in the heart, and elevated left ventricular phosphocreatine and ATP levels as compared to control rats. These data indicate that testosterone is involved in cardiac HSL activity regulation which, in turn, may affect cardiac lipid...

  11. Third ventricle midline shift on computed tomography as an alternative to septum pellucidum shift

    International Nuclear Information System (INIS)

    Santiago, Carlos Francis A.; Oropilla, Jean Quint L; Alvarez, Victor M.

    2000-01-01

    The cerebral midline shift is measured using the displacement from midline of the third ventricle. It is an easily determined criterion from which CT scans of patients with spontaneous intracerebral hematoma may be investigated. Midline shift is a significant criteria in which to gauge the neurological status of patients. In a retrospective study of 32 patients with spontaneous unilateral intracerebral hemorrhage, a midline third ventricle shift correlated well with septum pellucidum shift. A greater than 7 mm midline third ventricle shift was associated with a significantly lower Glasgow Coma scale score compared a shift less than 7mm. For the septum pellucidum, a greater than 10 mm shift was similarly associated with a significantly lower Glasgow Coma scale score. (Author)

  12. Small atrial septal defect associated with heart failure in an infant with a marginal left ventricle

    Directory of Open Access Journals (Sweden)

    Sandra D.K. Kingma

    2012-07-01

    Full Text Available Atrial septal defect (ASD is usually asymptomatic in infancy, unless pulmonary hypertension or severe co-morbidity is present. We report a case of a 4-week-old infant with moderate- sized ASD, small patent ductus arteriosus (PDA, and a borderline sized left ventricle that developed heart failure. Despite the relatively small diameter of the ASD, this defect influenced the mechanism of heart failure significantly. After surgical closure of both PDA and ASD, the signs of pulmonary hypertension resolved and the patient developed a normal sized left ventricle. This report illustrates that the presence of a small ASD in combination with a marginal left ventricle may result in inadequate left ventricular filling, pulmonary hypertension and heart failure.

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

    Science.gov (United States)

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

    2017-11-01

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

  14. Unusual presentation of congenitally corrected transposition of great arteries (CCTGAs in a middle aged male

    Directory of Open Access Journals (Sweden)

    Nambakam Tanuja Subramanyam

    2015-01-01

    Full Text Available Congenitally corrected transposition of great arteries (CCTGAs is a rare congenital heart disease. The literature review reveals that asymptomatic CCTGA is even rarer in elderly male. We report a case of a 54-year-old male, with no past significant medical history, who presented with angina type of chest pain. On examination, he had bradycardia, lower limb hypertension and grade 3 pansystolic murmur in the mitral area. Investigations revealed complete heart block in electrocardiograph, chest radiograph showed cardiomegaly, transthoracic echocardiography showed an apically located systemic atrio-ventricular (AV valve, parallel arrangement of the great arteries, AV and ventriculoarterial discordance, hypertrophied right ventricle and significant systemic AV valve insufficiency with ejection fraction of 40%. These findings were consistent with congenitally corrected transposition of the great arteries with systemic AV valve insufficiency. Holter monitoring showed complete heart block, no significant pauses and one event of ill-sustained ventricular tachycardia (ventricular triplet with the patient being asymptomatic during the study period. Need of internal cardioverter-defibrillator or pacemaker was deferred. The remaining hospital stay was uneventful. At the time of discharge, the patient was stable.

  15. 2013 update on congenital heart disease, clinical cardiology, heart failure, and heart transplant.

    Science.gov (United States)

    Subirana, M Teresa; Barón-Esquivias, Gonzalo; Manito, Nicolás; Oliver, José M; Ripoll, Tomás; Lambert, Jose Luis; Zunzunegui, José L; Bover, Ramon; García-Pinilla, José Manuel

    2014-03-01

    This article presents the most relevant developments in 2013 in 3 key areas of cardiology: congenital heart disease, clinical cardiology, and heart failure and transplant. Within the area of congenital heart disease, we reviewed contributions related to sudden death in adult congenital heart disease, the importance of specific echocardiographic parameters in assessing the systemic right ventricle, problems in patients with repaired tetralogy of Fallot and indication for pulmonary valve replacement, and confirmation of the role of specific factors in the selection of candidates for Fontan surgery. The most recent publications in clinical cardiology include a study by a European working group on correct diagnostic work-up in cardiomyopathies, studies on the cost-effectiveness of percutaneous aortic valve implantation, a consensus document on the management of type B aortic dissection, and guidelines on aortic valve and ascending aortic disease. The most noteworthy developments in heart failure and transplantation include new American guidelines on heart failure, therapeutic advances in acute heart failure (serelaxin), the management of comorbidities such as iron deficiency, risk assessment using new biomarkers, and advances in ventricular assist devices. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.

  16. Antenatal diagnosis of congenital deafness.

    Science.gov (United States)

    Isaacson, G

    1988-01-01

    Advances in the field of antenatal diagnosis have made possible the detection of profound sensorineural hearing loss prior to birth. Fetal motion in response to sound and auditory evoked potential testing can determine the presence of fetal hearing in the third trimester of pregnancy. Imaging modalities including ultrasound, computed tomography, and magnetic resonance imaging hold promise for the diagnosis of some forms of congenital deafness in the second trimester fetus. The methods by which congenital deafness soon may be diagnosed and the implications for the otologist are discussed.

  17. Bradyarrhythmias in Congenital Heart Disease.

    Science.gov (United States)

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

    2017-06-01

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

  18. Congenital melanocytic nevi management: question

    Directory of Open Access Journals (Sweden)

    Stefania Guida

    2016-03-01

    Full Text Available A 12-year-old girl presented to our attention for a pigmented lesion having greatest diameter of 2.5 cm, located on her left forehead, involving the ipsilateral eyebrow. This lesion had appeared as a flat brown macule at birth. With passing years, the lesion showed an increased diameter and thickness and it became progressively darker.1. What reasons can justify the excision of congenital melanocytic nevi?2. Which treatment do you think would be more appropriate?3. Is there a right age to remove a congenital melanocytic nevus?

  19. On diagnosis of congenital toxoplasmosis

    International Nuclear Information System (INIS)

    Denisova, L.B.; Vorontsova, S.V.; Shvedov, V.A.

    1999-01-01

    Chemical manifestations are considered and CT-semiotics of congenital toxoplasmosis, which can form intracranial calcinates, is described. Taking a certain case of congenital toxoplasmosis observation as an example the potentialities and significance of X-ray computerized tomography (CT) in the identification of brain pathological changes are demonstrated. It is shown that intracranial calcificates may be a sign of toxoplasmosis infection. In case of cytomegalovirus infection the calcificates on CT-scans have mostly periventricular localization. Equally with the revealing of brain status in case of chronic stage of neutrotoxoplasmosis the CT has also played a decisive role in diagnosis of pseudotumoroseus course of ischemic insult [ru

  20. [Congenital Heart Diseases and Sports].

    Science.gov (United States)

    Wippermann, Friederike; Oberhoffer, Renate; Hager, Alfred

    2017-01-01

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

  1. Hereditary congenital unilateral deafness : A new disorder?

    NARCIS (Netherlands)

    Dikkers, FG; Verheij, JBGM; van Mechelen, M

    Congenital unilateral deafness is a rare disorder. The prevalence rates are unknown. The prevalence of children with severe to profound hearing losses that are congenital (or acquired before the development of speech and language) is 0.5 to 3 per 1,000 live births. Evidently, congenital unilateral

  2. Demographic and Clinical Aspects of Congenital Hypothyroidism ...

    African Journals Online (AJOL)

    Introduction: Congenital hypothyroidism is the most common congenital endocrine disorder worldwide. Approximately 80 to 85% of cases are caused by defects in thyroid development (dysgenesis), the remaining 15 to 20% are due to errors of thyroid hormone biosynthesis (dyshormonogenesis). Congenital hypothyroidism ...

  3. Indentation in the Right Ventricle by an Incomplete Pericardium on 3-Dimensional Reconstructed Computed Tomography

    Directory of Open Access Journals (Sweden)

    Hak Ju Kim

    2017-08-01

    Full Text Available We report the case of a 17-year-old girl who presented with an indentation in the right ventricle caused by an incomplete pericardium on preoperative 3-dimensional reconstructed computed tomography. She was to undergo surgery for a partial atrioventricular septal defect and secundum atrial septal defect. Preoperative electrocardiography revealed occasional premature ventricular beats. We found the absence of the left side of the pericardium intraoperatively, and this absence caused strangulation of the diaphragmatic surface of the right ventricle. After correcting the lesion, the patient’s rhythm disturbances improved.

  4. Massive symptomatic subependymoma of the lateral ventricles: case report and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Rath, T.J.; Sundgren, P.C.; Gebarski, S.S. [University of Michigan Health Systems, Department of Radiology, Ann Arbor, MI (United States); Brahma, B.; Chandler, W.F. [University of Michigan Health Systems, Department of Neurosurgery, Ann Arbor, MI (United States); Lieberman, A.P. [University of Michigan Health Systems, Department of Pathology, Ann Arbor, MI (United States)

    2005-03-01

    Subependymomas are benign intraventricular tumors with an indolent growth pattern, which are usually asymptomatic, and most commonly occur in the fourth and lateral ventricles. When symptomatic, subependymomas often obstruct critical portions of the cerebrospinal fluid (CSF) pathway, causing hydrocephalus, and range from 3 cm to 5 cm in size. We report a case of an unusually massive subependymoma of the lateral ventricles treated with subtotal resection, ventriculoperitoneal shunt, and post-surgical radiation. The clinical course, radiographic and pathologic characteristics of this massive intraventricular subependymoma are discussed, as well as the differential diagnosis of lateral ventricular masses and a review of the literature concerning subependymomas. (orig.)

  5. A double-chambered left ventricle in a patient with palpitation

    International Nuclear Information System (INIS)

    Stathaki, M.; Velidaki, A.; Koukouraki, S.; Koxiadakis, G.; Vardas, P.; Karkavitsas, N.

    2005-01-01

    A 28 years old male patient was admitted to the department of cardiology after an episode of atypical chest pain, exertional dyspnea and palpitation on exercise. He was a chronic smoker and was smoking about 15 cigarettes per day, but had no family history of early heart disease. The echocardiography demonstrated the presence of an abnormal chamber in close contact to the left ventricle that followed systole and diastole. The coronary angiography was normal and the left ventriculography showed a double-chambered left ventricle. Theradionuclide ventriculography confirmed the presence of two separate chambers that communicate with each other and the ejection fraction obtained was 43%. (author)

  6. Myoarchitecture and vasculature of the heart ventricle in some freshwater teleosts

    Science.gov (United States)

    Simões, K; Vicentini, CA; Orsi, AM; Cruz, C

    2002-01-01

    The morphological characteristics of the ventricular myocardium and of coronary vascularization were studied in three freshwater teleost species, Piaractus mesopotamicus,Colossoma macropomum and Clarias gariepinus (African catfish), by correlating their ventricular shapes and swimming habits. In Piaractus mesopotamicus and Colossoma macropomum, species with highly active swimming habits, the cardiac ventricle showed a pyramidal shape and a richly vascularized myocardium consisting of an outer compact layer and inner spongy layer. In Clarias gariepinus, aless active species, we observed a saccular ventricle with a mixed myocardium and coronary arteries, in contrast to the ventricular structure of other species described in the literature. PMID:12090393

  7. Congenital syphilis surveillance

    Directory of Open Access Journals (Sweden)

    Antonella Marangoni

    2011-06-01

    Full Text Available Congenital syphilis (CS is mainly a consequence of the lack of antenatal care and control of sexually transmitted infections.The bedrock of the prevention of CS is syphilis diagnosis by serological screening during pregnancy.Current Italian guidelines suggest that all the pregnant women should be tested in the first trimester. Due to the frequently absence of specific signs of infection at birth, laboratory tests are often the only method for a correct CS diagnosis. The aim of this study was to evaluate the usefulness of Treponema pallidum IgM Western Blot (WB and Polymerase Chain Reaction (PCR on cerebrospinal fluid (CSF as an aid in the diagnosis of CS during a prospective surveillance study carried out at St. Orsola Hospital in Bologna, Italy, from November 2000 through June 2010. All pregnant women during pregnancy and at delivery were screened for syphilis by ARCHITECT® Syphilis TP, Abbott. Positive samples were further analysed by Treponema Pallidum Hemagglutination Test (TPHA and Rapid Plasma Reagin (RPR tests, Radim.An in-house Western Blot (WB was also performed. Infants born to syphilis seropositive mothers were enrolled in a prospective follow up. At birth, tests were performed (including IgM WB. Infants with positive RPR tests at birth born to mothers not adequately treated received also a long bone radiograph as well as a complete CSF analysis, including Veneral Disease Research Laboratori (VDRL (Siemens Healthcare Diagnostics and PCR testing. All seroreactive infants received careful follow up examinations and serological testing at 0, 3, 6, 9, 12 months or until the tests became negative. In this study, positive syphilis serology was noted in 151 pregnant women delivering in our hospital. Fifteen women had never been adequately treated, and 9 out 15 gave birth to infected newborns.All these 9 infants had positive IgM WB results on serum samples. Two babies had characteristic long bone lesions at X-ray examination and 3 were born

  8. [Congenital equinovarus clubfoot].

    Science.gov (United States)

    Seringe, R

    1999-06-01

    A congenital clubfoot is often associated with a neuromuscular disease, a chromosomal anomaly, or a syndrome. The present review will only study the idiopathic clubfoot seen in an otherwise normal child. It is considered nowadays that a clubfoot is secondary to a defect in the spontaneous "rotation-elevation" mechanism which should occur between the 9th and 10th week of fetal development. Several possible factors influence the embryonic development: genetic, neurologic, muscular, environmental, and toxic factors. Modern notions of anatomy and physiology of the foot allow a better understanding of the deformations seen in a clubfoot: calcaneo-forefoot block, talonavicular joint double "belonging", notion of "relative" hindfoot supination. The osteo-articular deformations involve mainly the talus, the calcaneus, the navicular. They are associated to articular stiffness secondary to soft tissue retractions like the posterolateral, anteromedial, and the anterolateral fibrous knots. Prenatal diagnosis can be made using the ultrasound which is usually performed at 20 weeks of gestation. Nevertheless, only the clinical exam at birth will evaluate the degree of severity of the clubfoot based upon its reducibility, the presence of skin creases, and the importance of muscular atrophy. Imaging techniques (especially standard x-ray) are useless diagnostic tools. They will be necessary for the follow-up, the evaluation of residual defects, and for the possible surgical indications. Conservative treatment is used first, and in the hands of experienced teams will give a sufficient correction in 70 to 80% of the patients. The surgical treatment is used to complete the correction obtained by conservative means. Surgical treatment will free the retracted soft tissues. Postoperatively the foot will be immobilized in the appropriate position for 2 to 3 months. Clubfoot treatments are associated with complications which have to be known to avoid them if possible and/or to be able to

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

    Science.gov (United States)

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

    2018-01-01

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

  10. Congenital anomalies in Primorsky region.

    Science.gov (United States)

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

    According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

  11. Adverse social determinants and risk for congenital anomalies.

    Science.gov (United States)

    Pawluk, Mariela S; Campaña, Hebe; Gili, Juan A; Comas, Belén; Giménez, Lucas G; Villalba, María I; Scala, Sandra C; Poletta, Fernando A; López Camelo, Jorge S

    2014-06-01

    Different studies have related familiar and regional adverse social conditions to perinatal outcome (neonatal mortality, low birth weight and prematurity); however, few studies have studied the effect of poverty on congenital anomalies. To assess the hazard ratio of 25 congenital anomalies and adverse social determinants as per the socioeconomic level of families and regions. Exploratory, case-control study using data from the Latin-American Collaborative Study of Congenital Malformations (Estudio Colaborativo Latinoamericano de Malformaciones Congenitas, ECLAMC). The sample consisted of 3786 live newborn infants with a single malformation and 13,344 controls selected among 546,129 births occurred in 39 hospitals from Argentina in the 1992-2001 period. Both direct and indirect (residence) risks (OR) were estimated, together with the interaction between the individual and residential socioeconomic levels for each of the 25 congenital anomalies. Cleft lip with/without cleft palate (OR= 1.43) and ventricular septal defect (OR= 1.38) showed a significantly higher risk in the lower socioeconomic level. Low socioeconomic levels were significantly associated with a higher frequency of parental sibship (blood relationship); native descent; maternal age younger than 19 years old; more than four pregnancies; a low number of antenatal care visits; and residence in deprived regions. Cleft lip with/without cleft palate and ventricular septal defects were significantly associated with a lower socioeconomic level. Lack of family planning and antenatal care; and exposure to environmental or teratogenic agents may account for these findings.

  12. Congenital cataracts in two siblings with Wolfram syndrome.

    Science.gov (United States)

    Mets, Rebecca B; Emery, Sarah B; Lesperance, Marci M; Mets, Marilyn B

    2010-12-01

    Wolfram syndrome is characterized by optic atrophy, insulin dependent diabetes mellitus, diabetes insipidus and deafness. There are several other associated conditions reported in the literature, but congenital or early childhood cataracts are not among them. Observational case series with confirmatory genetic analysis. A pair of siblings, followed over 17 years, who manifest congenital or early childhood cataracts, diabetes insipidus, diabetes mellitus, optic atrophy, and deafness. They are both compound heterozygotes for mutations (V415 deletion and A684V substitution) in the WFS1 gene. Their father has congenital sensorineural hearing loss and developed optic atrophy. He is heterozygous for A684V in WFS1. Wolfram syndrome should be in the differential diagnosis of genetic syndromes associated with congenital and early childhood cataracts. Here, we report on a mother who is a phenotypically normal carrier of an autosomal recessive Wolfram syndrome gene, and a father who has some of the findings of the syndrome and carries a single mutation that appears to be responsible for his hearing loss and optic atrophy. Their 2 children are compound heterozygotes and manifest the full Wolfram syndrome, in addition to cataracts.

  13. Possible association between congenital cytomegalovirus infection and autistic disorder.

    Science.gov (United States)

    Yamashita, Yushiro; Fujimoto, Chizu; Nakajima, Eisuke; Isagai, Takeo; Matsuishi, Toyojiro

    2003-08-01

    We encountered seven children with symptomatic congenital cytomegalovirus (CMV) infection from 1988 to 1995, of whom two (28.6%) developed typical autistic disorder. Case 1: A boy born at 38 weeks' gestation with a birth weight of 3164 g showed generalized petechiae, hepatosplenomegaly, and positive serum CMV-specific IgM antibodies. He was profoundly deaf, mentally retarded, and exhibited a lack of eye contact, stereotyped repetitive play, and hyperactivity. Case 2: A boy delivered at 39 weeks gestation with a birthweight of 2912 g showed non-progressive dilatation of the lateral ventricles observed postnatally. CMV-specific IgM antibodies were positive and CMV-DNA in the urine was confirmed by PCR. The boy was mentally retarded but not deaf. He showed no interest in people and delayed speech development. Subependymal cysts were detected by cranial ultrasound after birth in both patients. This is the first report describing subependymal cysts and the later development of AD. Cranial magnetic resonance imaging revealed an abnormal intensity area in the periventricular white matter suggestive of disturbed myelination; however, no migration disorders were found in our patients. These findings suggest that the timing of injury to the developing brain by CMV may be in the third trimester in some patients with autistic disorder.

  14. Valproate-Induced Congenital Malformations

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2005-07-01

    Full Text Available The risk of congenital malformations in infants of women with epilepsy treated with antiepileptic drugs (AEDs during the first trimester of pregnancy and in those whose mothers had discontinued AEDs before pregnancy was compared in a study at the Universities of Tampere and Oulu, Finland.

  15. Congenital Pulmonary Malformation in Children

    OpenAIRE

    Nadeem, Montasser; Elnazir, Basil; Greally, Peter

    2012-01-01

    Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  16. [Genetics of congenital heart diseases].

    Science.gov (United States)

    Bonnet, Damien

    2017-06-01

    Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  17. Congenital Pulmonary Malformation in Children

    Directory of Open Access Journals (Sweden)

    Montasser Nadeem

    2012-01-01

    Full Text Available Congenital Pulmonary Malformations (CPMs are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  18. Congenital broncho-oesophageal fistula

    African Journals Online (AJOL)

    1983-04-09

    Apr 9, 1983 ... A case of broncho-oesophageal fistula causing bronchiectasis of the left· lung is reported. Oesophagorespiratory fistulas without atresia of the oesophagus often have an insidious clinical course and most commonly present in adulthood. This rare congenital anomaly should be considered as a cause of ...

  19. Congenital Heart Disease and ADHD

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2008-05-01

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

  20. Neural Correlates of Congenital Amusia

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-10-01

    Full Text Available Magnetic resonance T1-weighted images were analyzed, using voxel-based morphometry (VBM, to detect brain anatomical differences in two independent groups of adults with congenital amusia (or tone-deafness compared to controls with normal pitch perception and no formal musical training.

  1. Severe congenital neutropenia (Kostmann Syndrome)

    African Journals Online (AJOL)

    Severe congenital neutropenia (SCN), Kostmann syndrome is a heterogenous disorder of myelopoiesis characterized by ... in the bone marrow; and associated with serious recurrent bacterial infections from early infancy. Sepsis mortality is ... neutrophil elastase ELA2. Myelodysplastic syndrome and acute myeloid leukemia.

  2. Impact of Isolated Tricuspid Valve Repair on Right Ventricular Remodelling in an Adult Congenital Heart Disease Population.

    Science.gov (United States)

    Marsico, Roberto; Bruno, Vito Domenico; Chivasso, Pierpaolo; Baritussio, Anna; Rapetto, Filippo; Guida, Gustavo A; Benedetto, Umberto; Caputo, Massimo

    2017-01-01

    Surgical repair of isolated congenital tricuspid valve (TV) disease is rare with no well-defined indication and outcomes. Moreover, the role of right ventricle (RV) in this context has not yet been investigated. We sought to assess the impact of congenital TV repair on cardiac remodelling and clinical-functional status and the importance of the RV function in an adult congenital heart disease (ACHD) population. From January 2005 to December 2015, 304 patients underwent TV surgery in our centre. Of these, 27 (ACHD) patients had isolated TV repair. Patients were evaluated with preoperative and postoperative transthoracic echocardiogram. Survival rate has been investigated with a mean clinical follow-up (FU) of 3.7 ± 2.3 years, whereas the mean echocardiographic FU was 2.9 ± 1.8 years. The clinical and functional status of patients showed a statistically significant improvement after the surgical repair in terms of New York Heart Association class (66.7 vs 7.4%; p  tricuspid repair requiring a reoperation. Isolated TV repair for adult congenital disease significantly improved patients' clinical and functional status and allowed right ventricular remodelling and functional improvement.

  3. Evaluation of Radioactivity in the Bladder after Injection of 131I Hippurate into Lateral Ventricles of Hydrocephalic Patients

    NARCIS (Netherlands)

    DIJKSTRA, J.; H.W.M. Baars (Hennie)

    1972-01-01

    textabstractThis correlative study sought an explanation for the appearance in the bladder of 131I hippurate injected into the lateral ventricle. Part of the excretion seemed to depend upon a ventricular process. High disappearance constants and early onset times were related to small ventricles,

  4. Colloid cyst of the third cerebral ventricle with an embryological remnant consistent with paraphysis cerebri in an adult human.

    Science.gov (United States)

    Nagaraju, S; O'Donovan, D G; Cross, J; Fernandes, H

    2010-01-01

    The histogenesis of colloid cysts of the third ventricle remains unsettled. Initial theories favored a neuroepithelial (paraphysis, ependyma, choroid plexus) origin and some investigators based on morphologic analysis have offered an alternative endodermal source. We report a case of colloid cyst of the third ventricle arising in association with a remnant which we believe corresponds to the paraphysis cerebri in man.

  5. Left ventricle shortening fraction: a comparison between euploid and trisomy 21 fetuses in the first trimester

    Czech Academy of Sciences Publication Activity Database

    Calda, P.; Břešťák, M.; Tomek, V.; Ošťádal, Bohuslav; Sonek, J.

    2010-01-01

    Roč. 30, č. 4 (2010), s. 368-371 ISSN 0197-3851 R&D Projects: GA MŠk(CZ) 1M0510 Institutional research plan: CEZ:AV0Z50110509 Keywords : trisomy 21 * first trimester * shortening fraction of the left ventricle Subject RIV: FA - Cardiovascular Diseases incl. Cardiotharic Surgery Impact factor: 2.152, year: 2010

  6. Perforation of the Right Ventricle as a Complication of Pericardiocentesis: A Case report

    Directory of Open Access Journals (Sweden)

    Stojanović Milovan

    2016-06-01

    Full Text Available Pericardial effusion represents the accumulation of larger amounts of fluid in the pericardial cavity. If not timely diagnosed and adequately treated, it can lead to cardiac tamponade. The treatment of pericardial effusion includes primarily the use of drugs like aspirin, NSAIDs, corticosteroids, and/or colchicine followed by invasive procedures such as pericardiocentesis or pericardiectomy. Pericardiocentesis complications are extremely rare but very serious especially in the case of the rupture of the right ventricle or the coronary arteries. Patient S.V, born in 1938, from Svrljig, was examined because of suffocating and swollen shin. The medical reports showed that the patient previously had had a permanent pacemaker implanted and that he had undergone a triple coronary artery bridging. Medical reports also showed that two months before the examination he was hospitalized due to pericardial effusion at the reference institution. The ultrasonographic examination registered large circular effusion with the motion of the right ventricle and the patient underwent urgent pericardiocentesis. During pericardiocentesis, the rupture of the right ventricle occurred and the patient was sent to the cardiac surgery clinic where he had catheter extraction performed. The control ultrasound examination of the heart showed no pericardial effusion, and no signs of damage to the right ventricle.

  7. A comparative study of contractility of the heart ventricle in some ectothermic vertebrates

    Directory of Open Access Journals (Sweden)

    Sergey Kharin

    2009-07-01

    Full Text Available The purpose of this study was to analyze contractility of the heart ventricle in selected reptilian and amphibian species having the same ventricular excitation pattern. Systolic time intervals and indices of contractility of the heart ventricle were measured in anaesthetized frogs, snakes, and tortoises by use of polycardiography. The electromechanical delay was significantly shorter in tortoises compared with the other two species. The isovolumetric contraction time in frogs was approximately twofold longer than in reptiles. The pre-ejection period was the longest in frogs and the shortest in tortoises, whereas snakes were intermediate. The ejection time was slightly longer in tortoises compared with the other two species. The greatest isovolumetric contraction index and the smallest myocardial tension index corresponded to the frog and tortoise heart ventricle, respectively. The intrasystolic index in tortoises was significantly greater than in frogs, whereas quite similar to that in snakes. The frog ventricle had lower contractility compared with the reptilian one. Although ventricular contractility tended to be lower in snakes compared with tortoises, this difference was not statistically significant. Possible causes for these differences are discussed. We suppose a large variety in ventricular contractility among amphibian and reptilian species having the same ventricular activation pattern. This variety may be conditioned by heart anatomy, intracardiac shunting, lifestyles, and habitats. It can only be hypothesized that on the average, ventricular contractility is higher in reptiles compared with amphibians and in chelonians compared with snakes.

  8. Statistical 3D shape analysis of gender differences in lateral ventricles

    Science.gov (United States)

    He, Qing; Karpman, Dmitriy; Duan, Ye

    2010-03-01

    This paper aims at analyzing gender differences in the 3D shapes of lateral ventricles, which will provide reference for the analysis of brain abnormalities related to neurological disorders. Previous studies mostly focused on volume analysis, and the main challenge in shape analysis is the required step of establishing shape correspondence among individual shapes. We developed a simple and efficient method based on anatomical landmarks. 14 females and 10 males with matching ages participated in this study. 3D ventricle models were segmented from MR images by a semiautomatic method. Six anatomically meaningful landmarks were identified by detecting the maximum curvature point in a small neighborhood of a manually clicked point on the 3D model. Thin-plate spline was used to transform a randomly selected template shape to each of the rest shape instances, and the point correspondence was established according to Euclidean distance and surface normal. All shapes were spatially aligned by Generalized Procrustes Analysis. Hotelling T2 twosample metric was used to compare the ventricle shapes between males and females, and False Discovery Rate estimation was used to correct for the multiple comparison. The results revealed significant differences in the anterior horn of the right ventricle.

  9. Flow induced by ependymal cilia dominates near-wall cerebrospinal fluid dynamics in the lateral ventricles.

    Science.gov (United States)

    Siyahhan, Bercan; Knobloch, Verena; de Zélicourt, Diane; Asgari, Mahdi; Schmid Daners, Marianne; Poulikakos, Dimos; Kurtcuoglu, Vartan

    2014-05-06

    While there is growing experimental evidence that cerebrospinal fluid (CSF) flow induced by the beating of ependymal cilia is an important factor for neuronal guidance, the respective contribution of vascular pulsation-driven macroscale oscillatory CSF flow remains unclear. This work uses computational fluid dynamics to elucidate the interplay between macroscale and cilia-induced CSF flows and their relative impact on near-wall dynamics. Physiological macroscale CSF dynamics are simulated in the ventricular space using subject-specific anatomy, wall motion and choroid plexus pulsations derived from magnetic resonance imaging. Near-wall flow is quantified in two subdomains selected from the right lateral ventricle, for which dynamic boundary conditions are extracted from the macroscale simulations. When cilia are neglected, CSF pulsation leads to periodic flow reversals along the ventricular surface, resulting in close to zero time-averaged force on the ventricle wall. The cilia promote more aligned wall shear stresses that are on average two orders of magnitude larger compared with those produced by macroscopic pulsatile flow. These findings indicate that CSF flow-mediated neuronal guidance is likely to be dominated by the action of the ependymal cilia in the lateral ventricles, whereas CSF dynamics in the centre regions of the ventricles is driven predominantly by wall motion and choroid plexus pulsation.

  10. A Case of Noncompaction at All Segments of Both Right and Left Ventricles

    Directory of Open Access Journals (Sweden)

    Ali Pourmoghaddas

    2014-01-01

    Full Text Available Background. Noncompaction/hypertrabeculation left ventricle (NCM/HVM is most commonly reported in one or more segments of left ventricle and sometimes both ventricles. In this case, we present noncompaction of all segments of right and left ventricle, in a young man with mental retardation. Case Presentation. A 19-year-old male was referred to us with sudden dyspnea at rest and chest discomfort. He was a known case of mental retardation. He was born full term with birth weight = 1250 grams. On physical examination. A systolic murmur (II/VI at left sternal border was heard. ECG showed increased voltage in precordial lead and deep ST segment depression. Chest X-ray (CXR was within normal limits. Transthoracic echocardiography showed situs solitus, D loop, normal connection of great vessels, noncompaction LV at all segments (noncompaction/compaction = 2.5/0.5 with moderate systolic dysfunction (LVEF = 40%, diastolic dysfunction grade II, normal RV size with mild systolic dysfunction and hypertrabeculation, mild tricuspid regurgitation (TR, and normal pulmonary artery systolic pressure. After injection of agitated saline some bubbles were passed from right to left through patent foramen oval (PFO. Conclusions. Extensive sinusoid formation and trabeculation of RV and nearby all LV segments and its association with mental retardation suggest presence of strong genetic background.

  11. Study of cysticercosis in the fourth ventricle by CSF cinema MRI

    International Nuclear Information System (INIS)

    Wang Lianqing; Liu Lianxiang; Wu Jie; Wu Jing; Zhang Renshu; Wu Yujin

    1997-01-01

    Purpose: To evaluate the diagnostic value of cysticercosis in the fourth ventricle by CSF cinema MRI. Materials and methods: Nine patients with intraventricular cysticercosis in the fourth ventricle were studied. The diagnosis was confirmed by surgery in all cases. All of these patients were examined systematically before the operation and studied with CSF cinema MRI in mid sagittal section and finger-gated scan technique. Results: (1) The path of CSF flow was directly displayed. All cysticercosis presented as a filling defect, and a cyst with a smooth wall. (2) The ventricular compliance was normal in cysticercosis. (3) The cysticercosis in active stage was free in the fourth ventricle and could be rolled over, its shape might change slightly within a cardiac cycle. In the degenerative stage, its wall could adhere to the ependyma and obstruct the CSF flow. Conclusion: CSF cinema MRI can demonstrate the degree of obstruction and pattern of CSF flow in cysticercosis of the fourth ventricle, thereby providing useful information for proper management

  12. Long-term benefits of exercise training in patients with a systemic right ventricle

    NARCIS (Netherlands)

    van der Bom, Teun; Winter, Michiel M.; Knaake, Jennifer L.; Cervi, Elena; de Vries, Leonie S. C.; Balducci, Anna; Meregalli, Paola G.; Pieper, Petronella G.; van Dijk, Arie P. J.; Bonvicini, Marco; Mulder, Barbara J. M.; Bouma, Berto J.

    2015-01-01

    The aim of the present study is to determine the long-term effects of a ten-week exercise training program in adult patients with a systemic right ventricle. All patients who participated in a 2009 randomized controlled trial were approached. At approximately three years of follow-up from initial

  13. Long-term benefits of exercise training in patients with a systemic right ventricle

    NARCIS (Netherlands)

    van der Bom, Teun; Winter, Michiel M.; Knaake, Jennifer L.; Cervi, Elena; de Vries, Leonie S. C.; Balducci, Anna; Meregalli, Paola G.; Pieper, Petronella G.; van Dijk, Arie P. J.; Bonvicini, Marco; Mulder, Barbara J. M.; Bouma, Berto J.

    2015-01-01

    Objectives: The aim of the present study is to determine the long-term effects of a ten-week exercise training program in adult patients with a systemic right ventricle. Methods: All patients who participated in a 2009 randomized controlled trial were approached. At approximately three years of

  14. Pregnancy Differentially Regulates the Collagens Types I and III in Left Ventricle from Rat Heart

    Directory of Open Access Journals (Sweden)

    Sarai Limon-Miranda

    2014-01-01

    Full Text Available The pathologic cardiac remodeling has been widely documented; however, the physiological cardiac remodeling induced by pregnancy and its reversion in postpartum are poorly understood. In the present study we investigated the changes in collagen I (Col I and collagen III (Col III mRNA and protein levels in left ventricle from rat heart during pregnancy and postpartum. Col I and Col III mRNA expression in left ventricle samples during pregnancy and postpartum were analyzed by using quantitative PCR. Data obtained from gene expression show that Col I and Col III in left ventricle are upregulated during pregnancy with reversion in postpartum. In contrast to gene expression, the protein expression evaluated by western blot showed that Col I is downregulated and Col III is upregulated in left ventricle during pregnancy. In conclusion, the pregnancy differentially regulates collagens types I and III in heart; this finding could be an important molecular mechanism that regulates the ventricular stiffness in response to blood volume overload present during pregnancy which is reversed in postpartum.

  15. Evaluation of Right Ventricle Function in Children With Primary Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Qiang Qin

    2010-06-01

    Conclusion: Right ventricle function was impaired in children with PNS. The characteristics were unrelated to blood pressure and IGF-1, but may be correlated with TNF-α and disease duration. Further studies are needed to evaluate the etiology and clinical implications of this abnormality.

  16. Flow induced by ependymal cilia dominates near-wall cerebrospinal fluid dynamics in the lateral ventricles

    Science.gov (United States)

    Siyahhan, Bercan; Knobloch, Verena; de Zélicourt, Diane; Asgari, Mahdi; Schmid Daners, Marianne; Poulikakos, Dimos; Kurtcuoglu, Vartan

    2014-01-01

    While there is growing experimental evidence that cerebrospinal fluid (CSF) flow induced by the beating of ependymal cilia is an important factor for neuronal guidance, the respective contribution of vascular pulsation-driven macroscale oscillatory CSF flow remains unclear. This work uses computational fluid dynamics to elucidate the interplay between macroscale and cilia-induced CSF flows and their relative impact on near-wall dynamics. Physiological macroscale CSF dynamics are simulated in the ventricular space using subject-specific anatomy, wall motion and choroid plexus pulsations derived from magnetic resonance imaging. Near-wall flow is quantified in two subdomains selected from the right lateral ventricle, for which dynamic boundary conditions are extracted from the macroscale simulations. When cilia are neglected, CSF pulsation leads to periodic flow reversals along the ventricular surface, resulting in close to zero time-averaged force on the ventricle wall. The cilia promote more aligned wall shear stresses that are on average two orders of magnitude larger compared with those produced by macroscopic pulsatile flow. These findings indicate that CSF flow-mediated neuronal guidance is likely to be dominated by the action of the ependymal cilia in the lateral ventricles, whereas CSF dynamics in the centre regions of the ventricles is driven predominantly by wall motion and choroid plexus pulsation. PMID:24621815

  17. Acute hydrocephalus in a child with a third ventricle arachnoid cyst and coincidental enteroviral meningitis

    NARCIS (Netherlands)

    Jeltema, Hanne-Rinck; Kuijlen, Jos M. A.; Hoving, Eelco W.

    We present a 2.5-year-old child suffering from acute hydrocephalus. First, the child was diagnosed with aseptic viral meningitis. The PCR of the cerebrospinal fluid (CSF) was positive for enterovirus. Subsequently, MRI revealed that the hydrocephalus was caused by a cyst in the third ventricle.

  18. Surgical approach to a rare case of double-outlet right ventricle and aortopulmonary window.

    Science.gov (United States)

    Tunks, Robert D; Steed, R Dennis; Lodge, Andrew J

    2016-01-01

    Although the spectrum of physiology seen in infants and children with double-outlet right ventricle is broad, this anatomy in combination with an aortopulmonary window is extremely rare. We present an interesting case of an infant prenatally diagnosed with this rare CHD. To our knowledge, this is the first report of complete repair in the neonatal period for such a combination of defects.

  19. Flow structure in healthy and pathological left ventricles with natural and prosthetic mitral valves

    NARCIS (Netherlands)

    Meschini, Valentina; De Tullio, M.D.; Querzoli, Giorgio; Verzicco, R.

    2018-01-01

    In this paper, the structure and the dynamics of the flow in the left heart ventricle are studied for different pumping efficiencies and mitral valve types (natural, biological and mechanical prosthetic). The problem is investigated by direct numerical simulation of the Navier-Stokes equations,

  20. Echocardiographic evaluation of left ventricle mechanical parameters in infants of the first year of life

    Directory of Open Access Journals (Sweden)

    Yu. S. Sinelnikov

    2017-11-01

    Full Text Available Aim. The study focused on the analysis of the measurement range of left ventricle mechanics (strain, strain rate, rotation, rotation rate, twisting, untwisting, torsion in healthy infants of the first year of life to obtain their baseline values.Methods. The study included 125 healthy infants aged 5 days to 12 months (average 5.9±3.9 months. The Аcuson S 2000 machine (Siemens Medical Systems, Mountain View, CA, USA was used to perform echocardiography. The indicators of left ventricle longitudinal strain (% and strain rate (s–1, radial strain and strain rate (% and s–1, circumferential strain and strain rate (% and s–1, basal and apical rotation in systole and diastole (° and rotation rate (°/s, twisting (°, untwisting (°, twisting and unwinding rate (°/s and torsion (°/cm were measured and analyzed. Results. It was found out that the values of the longitudinal strain and strain rate inversely correlate with the pumping function (stroke volume index and diastolic function (filling pressures and the untwisting rate. The parameters of the circular and radial strain tended to depend on the left ventricle mass index, interventricular septum/left ventricle posterior wall thicknesses. Left ventricle twisting and untwisting would increase in healthy infants from the newborn period to the first year of life. Left ventricle torsion range was determined by the twist values and not by left ventricular geometry.Conclusion. The obtained data on the values of longitudinal, circumferential and radial left ventricle strain and strain rate can be used as reference ranges to evaluate the mechanical left ventricular function in infants of the first year of life.Received 27 January 2017. Accepted 15 June 2017.Funding: The study did not have sponsorship.Conflict of interest: The authors declare no conflict of interest.Author contributionsConception and study design: Yu.S. Sinelnikov, E.N. OrekhovaData collection and analysis: M.A. Polevshikova, T

  1. Assessment of anatomic morphology of the connective structures among brain ventricles and cerebrospinal fluid movement in them by cerebrospinal fluid spin-labeling MRI

    International Nuclear Information System (INIS)

    Wang Ling; Shi Dapeng; Wang Ying; Liu Liya; Shen Hao

    2011-01-01

    Objective: To assess the anatomic morphology of the connective structures among brain ventricles and cerebrospinal fluid (CSF) movement in them by CSF spin-labeling MR imaging. Methods: According to the order of registration, 50 healthy volunteers were randomly selected and received cerebrospinal fluid spin-labeling MR scan with time-spatial labeling inversion recovery single-shot fast spin echo sequence (SLIR-SSFSE). The tagged CSF was used as an endogenous tracer. The anatomic morphology of the connective structures of brain ventricles and the flow direction of CSF were observed. The longitudinal diameter and transverse diameter of bilateral foramina of monro, midbrain aqueduct, and the central and bilateral lateral apertures of the fourth ventricle of each subject were measured and calculated based on multiple measurements. The flow rate of CSF was calculated based on the flow distance of CSF in the connective structures between brain ventricles during different TI time. The mean value of each indicator was acquired. Results: Two-way flow state of CSF was observed in all connective structures, including bilateral foramina of monro, midbrain aqueduct, and the central and bilateral lateral apertures of the fourth ventricle. On the coronal planes, foramen of monro appears as a 'Y'-type tubular structure locating among the both sides of the anteriomedial thalamus and fornix, which connect upward with bilateral lateral ventricles and downward with the third ventricle. The longitudinal diameter and transverse diameter of the left side of foramen of monro were 3.50-5.50 mm [mean (4.37±0.47) mm] and 1.00-1.40 mm [mean (1.21± 0.13) mm], respectively. The longitudinal diameter and transverse diameter of the right side of foramen of' monro were 4.20-4.80 mm [mean (4.42±0.20) mm] and 1.00-1.60 mm [mean (1.21± 0.19) mm], respectively. On the sagittal planes, foramen of monro appeared as an oblique fine tubular structure with the angle of 55°-58° between the both sides

  2. Voxel-based discriminant map classification on brain ventricles for Alzheimer's disease

    Science.gov (United States)

    Wang, Jingnan; de Haan, Gerard; Unay, Devrim; Soldea, Octavian; Ekin, Ahmet

    2009-02-01

    One major hallmark of the Alzheimer's disease (AD) is the loss of neurons in the brain. In many cases, medical experts use magnetic resonance imaging (MRI) to qualitatively measure the neuronal loss by the shrinkage or enlargement of the structures-of-interest. Brain ventricle is one of the popular choices. It is easily detectable in clinical MR images due to the high contrast of the cerebro-spinal fluid (CSF) with the rest of the parenchyma. Moreover, atrophy in any periventricular structure will directly lead to ventricle enlargement. For quantitative analysis, volume is the common choice. However, volume is a gross measure and it cannot capture the entire complexity of the anatomical shape. Since most existing shape descriptors are complex and difficult-to-reproduce, more straightforward and robust ways to extract ventricle shape features are preferred in the diagnosis. In this paper, a novel ventricle shape based classification method for Alzheimer's disease has been proposed. Training process is carried out to generate two probability maps for two training classes: healthy controls (HC) and AD patients. By subtracting the HC probability map from the AD probability map, we get a 3D ventricle discriminant map. Then a matching coefficient has been calculated between each training subject and the discriminant map. An adjustable cut-off point of the matching coefficients has been drawn for the two classes. Generally, the higher the cut-off point that has been drawn, the higher specificity can be achieved. However, it will result in relatively lower sensitivity and vice versa. The benchmarked results against volume based classification show that the area under the ROC curves for our proposed method is as high as 0.86 compared with only 0.71 for volume based classification method.

  3. Modified edge-to-edge technique for correction of congenital mitral regurgitation in infants and children.

    Science.gov (United States)

    Zhang, Gang; Zhang, Fusheng; Zhu, Mei; Zhang, Wenlong; Fan, Quanxin; Zou, Chengwei; Wang, Anbiao

    2011-10-01

    Since 2008, 28 patients with congenital mitral regurgitation have undergone mitral valve repair with a modified edge-to-edge technique at our institution. The regurgitant mitral leaflet was sutured with a pledget-reinforced, horizontal mattress suture with No. 4-0 polypropylene on the ventricle side and a pledget-reinforced mattress suture with Gore-Tex sutures (W.L. Gore & Associates, Flagstaff, AZ) and Dacron pledgets (Chest, Shanghai) placed on the anterior and posterior annulus corresponding to the edge-to-edge suturing site. Early results are encouraging, but a longer follow-up is needed. Copyright © 2011 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  4. Hemodynamic correction of univentricular congenital heart diseases: the role of additional sources of pulmonary blood flow

    Directory of Open Access Journals (Sweden)

    Ю. Н. Горбатых

    2015-10-01

    Full Text Available Analysis of the impact of additional sources of pulmonary blood flow on the outcomes of hemodynamic correction of univentricular congenital heart disease is presented. From 2003 to 2010 31 patients received a bidirectional cavopulmonary shunt (BCPS with/without preservation of additional pulmonary blood flow sources. The latter were preserved in 18 patients (1st group and eliminated in 13 patients (2nd group. Later on all patients had Fontan procedure. Our results showed no significant impact of additional pulmonary blood flow sources on the system ventricle function and systemic AV valve regurgitation. Preservation of adequate additional pulmonary blood flow during BCPS promotes pulmonary arterial growth and increases the degree of freedom from operative intervention, while optimizing hemodynamic features of Fontan-borderline patients.

  5. Organ Dynamics and Fluid Dynamics of the HH25 Chick Embryonic Cardiac Ventricle as Revealed by a Novel 4D High-Frequency Ultrasound Imaging Technique and Computational Flow Simulations.

    Science.gov (United States)

    Ho, Sheldon; Tan, Germaine Xin Yi; Foo, Toon Jin; Phan-Thien, Nhan; Yap, Choon Hwai

    2017-10-01

    Past literature has provided evidence that a normal mechanical force environment of blood flow may guide normal development while an abnormal environment can lead to congenital malformations, thus warranting further studies on embryonic cardiovascular flow dynamics. In the current study, we developed a non-invasive 4D high-frequency ultrasound technique, and use it to analyze cardiovascular organ dynamics and flow dynamics. Three chick embryos at stage HH25 were scanned with high frequency ultrasound in cine-B-mode at multiple planes spaced at 0.05 mm. 4D images of the heart and nearby arteries were generated via temporal and spatial correlation coupled with quadratic mean ensemble averaging. Dynamic mesh CFD was performed to understand the flow dynamics in the ventricle of the 2 hearts. Our imaging technique has sufficiently high resolution to enable organ dynamics quantification and CFD. Fine structures such as the aortic arches and details such as the cyclic distension of the carotid arteries were captured. The outflow tract completely collapsed during ventricular diastole, possible serving the function of a valve to prevent regurgitation. CFD showed that ventricular wall shear stress (WSS) were in the range of 0.1-0.5 Pa, and that the left side of the common ventricle experienced lower WSS than the right side. The pressure gradient from the inlet to the outlet of the ventricle was positive over most of the cardiac cycle, and minimal regurgitation flow was observed, despite the absence of heart valves. We developed a new image-based CFD method to elucidate cardiac organ dynamics and flow dynamics of embryonic hearts. The embryonic heart appeared to be optimized to generate net forward flow despite the absence of valves, and the WSS environment appeared to be side-specific.

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

    Science.gov (United States)

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

    2013-09-01

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

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

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    Walla Luay AL_Falluji

    2017-12-01

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

  8. [Identification of risk factors for congenital malformations].

    Science.gov (United States)

    Canals C, Andrea; Cavada C, Gabriel; Nazer H, Julio

    2014-11-01

    The relative importance of congenital malformations as a cause of death in the first year of life is increasing along with the control of preventable causes of perinatal mortality. To identify risk factors for congenital malformations. Retrospective case-control study of births registered in the database of The Latin American Collaborative Study of Congenital Malformations (ECLAMC), in the period 2001-2010. Birth weight and gestational age were significantly lower in cases than controls, behaving as risk factors and associated with a greater severity of congenital malformations. The risk and severity of congenital malformations increased along with mother's age. Fetal growth retardation, a history of congenital malformations in the family, physical factors and acute illnesses of the mother in the first trimester of pregnancy were also significant risk factors for congenital malformations and their severity. The educational level of the mother was a protective factor for congenital malformations and their severity. Variables previously identified as risk factors for congenital malformations, were significantly related with the occurrence of congenital malformations and their severity.

  9. RADICAL CORRECTION OF COMBINED CONGENITAL HEART DISEASE IN PATIENT WITH EXTRAHEPATIC PORTAL HYPERTENSION

    Directory of Open Access Journals (Sweden)

    A.S. Ivanov

    2014-01-01

    Full Text Available Aim. To present rare clinical observation of successful surgical treatment of the patient with double-chamber right ventricle in combination with ventricular septal defect, subaortic fi brosis and muscular stenosis, insufficiency of the aortic valve and extrahepatic portal hypertension.Description. Patient F., 15 years old, was diagnosed with Congenital Heart Disease – double-chambered right ventricle, ventricular septal defect. Fibromuscular subaortic stenosis. Aortic valve insuffi ciency II. Circulatory failure II A., functional class III. Extrahepatic portal hypertension. Splenomegaly. Thrombocytopenia. The state after the imposition of splenorenal anastomosis in September 1998 and the imposition of mesocaval H-shaped anastomosis in 1998. Non-functioning anastomoses. Patient indicated for surgical correction of CHD, however, given the low level of platelets, expressed splenomegaly, leucopenia, the patient was referred for a preliminary treatment to Rogachev’s Pediatric Hematology, Oncology and Immunology Center. The treatment (stimulating thrombopoiesis using romiplostim gave no signifi cant effect. Platelet count reached 70–90 Å~ 109. Seeing of frequent bleeding from esophageal varices, the patient underwent varix sclerosis. At the time of hospitalization – no esophageal varices. The patient appealed to V.I. Shumakov Federal Research Center of Transplantology and Artifi cial Organs where he was recommended for surgical treatment.Result. The patient performed surgery: radical correction of CHD: resection of the stenosis of the outfl ow tract of the right ventricle, subaortic stenosis resection, closure of ventricular septal defect, AV plasty under cardiopulmonary bypass. The early postoperative period was uneventful. Leukopenia was observed to 1,2 Å~ 109, thrombocytopenia 70–90 Å~ 109. Despite the low level of platelets bleeding in pre-and postoperative period was not registered. Antibiotic therapy with tienam. Good postoperative

  10. Planning of vessel grafts for reconstructive surgery in congenital heart diseases

    Science.gov (United States)

    Rietdorf, U.; Riesenkampff, E.; Schwarz, T.; Kuehne, T.; Meinzer, H.-P.; Wolf, I.

    2010-02-01

    The Fontan operation is a surgical treatment for patients with severe congenital heart diseases, where a biventricular correction of the heart can't be achieved. In these cases, a uni-ventricular system is established. During the last step of surgery a tunnel segment is placed to connect the inferior caval vein directly with the pulmonary artery, bypassing the right atrium and ventricle. Thus, the existing ventricle works for the body circulation, while the venous blood is passively directed to the pulmonary arteries. Fontan tunnels can be placed intra- and extracardially. The location, length and shape of the tunnel must be planned accurately. Furthermore, if the tunnel is placed extracardially, it must be positioned between other anatomical structures without constraining them. We developed a software system to support planning of the tunnel location, shape, and size, making pre-operative preparation of the tunnel material possible. The system allows for interactive placement and adjustment of the tunnel, affords a three-dimensional visualization of the virtual Fontan tunnel inside the thorax, and provides a quantification of the length, circumferences and diameters of the tunnel segments. The visualization and quantification can be used to plan and prepare the tunnel material for surgery in order to reduce the intra-operative time and to improve the fit of the tunnel patch.

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

    International Nuclear Information System (INIS)

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

    2007-01-01

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

  12. [Pediatric case of congenital coronary artery fistula; surgical result and late changes in coronary artery aneurysm].

    Science.gov (United States)

    Sugawara, Masaaki; Oguma, Fumiaki; Hirahara, Hiroyuki

    2014-07-01

    Congenital coronary artery fistula is an uncommon heart anomaly involving the coronary arteries. We report here a case of a 4-year-old boy who had a coronary fistula from the right coronary artery to the right ventricle, with a coronary aneurysm. He was asymptomatic, but the calculated ratio of pulmonary blood flow to systemic blood flow was shown to be high [pulmonary flow (Qp)/systemic flow(Qs)=1.78]. The coronary angiography showed that the right coronary artery was dilated beginning at the ostium and had an aneurysm at the acute marginal portion. A large spherical aneurysm approximately 20 mm in diameter was found to have been connected with coronary fistula opening into the right ventricle. Surgical repair by closure of the fistula under direct vision, partial resection and suture closure of the aneurysm was performed. Plication of the proximal portion of the right coronary artery was not performed, and the diffusely dilated artery was left untouched. After this operation, he recovered well under anticoagulant treatment with warfarin and aspirin. Postoperative angiography was performed 17 months after the surgery to evaluate morphological changes in the coronary artery. The angiography confirmed the closure of the fistula and the regression of coronary artery dilatation.

  13. Xq26.1-26.3 duplication including MOSPD1 and GPC3 identified in boy with short stature and double outlet right ventricle.

    Science.gov (United States)

    Hirota, Yukiko; Minami, Takaomi; Sato, Tomoyuki; Yokomizo, Akiko; Matsumoto, Auimi; Goto, Masahide; Jinbo, Eriko; Yamamgata, Takanori

    2017-09-01

    Xq25q26 duplication syndrome has been reported in individuals with clinical features such as short stature, intellectual disability, syndromic facial appearance, small hands and feet, and genital abnormalities. The symptoms are related to critical chromosome regions including Xq26.1-26.3. In this particular syndrome, no patient with congenital heart disease was previously reported. Here, we report a 6-year-old boy with typical symptoms of Xq25q26 duplication syndrome and double outlet right ventricle (DORV) with pulmonary atresia (PA). He had the common duplicated region of Xq25q26 duplication syndrome extending to the distal region including the MOSPD1 locus. MOSPD1 regulates transforming growth factor beta (TGFβ) 2,3 and may be responsible for cardiac development including DORV. In the patient's lymphocytes, mRNA expression of TGFβ2 was lower than control, and might cause DORV as it does in TGFβ2-deficient mice. Therefore, MOSPD1 is a possible candidate gene for DORV, probably in combination with GPC3. Further studies of the combined functions of MOSPD1 and GPC3 are needed, and identification of additional patients with MOSPD1 and GPC3 duplication should be pursued. © 2017 Wiley Periodicals, Inc.

  14. Absent aortic valve associated with double outlet right ventricle and aortopulmonary window: physiologic implications of a rare malformation in both the fetus and neonate.

    Science.gov (United States)

    Sabati, Arash A; Wong, Pierre C; Randolph, Linda; Pruetz, Jay D

    2014-01-01

    Absence of the aortic valve is a rare congenital heart defect that is detectable in the prenatal period. In this condition, functional aortic valve leaflets are absent; in their place are rudimentary, immobile noncoapting plate-like structures at the level of the annulus resulting in severe aortic regurgitation. We report the fetal diagnosis and subsequent postnatal course of an infant with the novel association of absent aortic valve, double outlet right ventricle, and aortopulmonary window. This unique combination of defects resulted in an unusual pattern of circular shunting that produced evidence of fetal heart failure. Shortly after birth, the abnormal physiology led to compromised systemic perfusion, intestinal perforation and subsequent rapid demise of the patient. Abrupt postnatal deterioration typifies the vast majority of the absent aortic valve cases found in the literature. Our patient is unique in that it is the first female reported with absent aortic valve and the first reported with an aortopulmonary window. This report demonstrates that absent aortic valve is a condition that can be diagnosed prenatally by fetal echocardiogram; the highly abnormal physiology places these patients at risk for fetal heart failure. Given the potential for clinical instability and rapid deterioration after birth, such patients should undergo rapid postnatal assessment and immediate surgical intervention when deemed appropriate. © 2013 Wiley Periodicals, Inc.

  15. Congenital chloride diarrhea: late presentation

    Directory of Open Access Journals (Sweden)

    Al Bishi L

    2011-04-01

    Full Text Available Laila Al Bishi1, Mustafa Al Toonisi2Pediatric Department, North West Armed Forces Hospital, Tabuk, Kingdom of Saudi ArabiaAbstract: We report the case of a male infant who presented with diarrhea at 6 months of age. He was failing to thrive, and biochemical investigation revealed hypokalemic hypochloremic metabolic alkalosis. Diagnosis of congenital chloride diarrhea was suspected and confirmed by the stool chloride result. He was started on high-dose sodium chloride and potassium chloride to control the electrolyte imbalance. The disease was difficult to control for a year after diagnosis. Late presentation is associated with severe chronic electrolyte disturbances and high-dose replacement therapy.Keywords: congenital chloride diarrhea, hypokalemic hypochloremic metabolic alkalosis, high stool chloride

  16. Pulmonary abscesses in congenital syphilis.

    Science.gov (United States)

    Bell, Carrie; Taxy, Jerome

    2002-04-01

    Congenital syphilis remains a public health concern in the United States. Infants whose mothers are treated in the third trimester without adequate prenatal care have an increased risk of morbidity and mortality in the immediate perinatal period. The identification of Treponema pallidum in tissue is definitive confirmation of infection. We report the case of a 32-week gestational age infant born to a mother treated for syphilis 7 days prior to delivery. The infant died 12.5 hours after birth. At autopsy, there was extensive acute hyaline membrane disease. In addition, there were bilateral pulmonary abscesses with spirochetes. The onset of maternal disease was unknown, but was probably early in or prior to the pregnancy. This is an unusual case of pulmonary involvement in congenital syphilis.

  17. Material stiffness parameters as potential predictors of presence of left ventricle myocardial infarction: 3D echo-based computational modeling study.

    Science.gov (United States)

    Fan, Longling; Yao, Jing; Yang, Chun; Wu, Zheyang; Xu, Di; Tang, Dalin

    2016-04-05

    Ventricle material properties are difficult to obtain under in vivo conditions and are not readily available in the current literature. It is also desirable to have an initial determination if a patient had an infarction based on echo data before more expensive examinations are recommended. A noninvasive echo-based modeling approach and a predictive method were introduced to determine left ventricle material parameters and differentiate patients with recent myocardial infarction (MI) from those without. Echo data were obtained from 10 patients, 5 with MI (Infarct Group) and 5 without (Non-Infarcted Group). Echo-based patient-specific computational left ventricle (LV) models were constructed to quantify LV material properties. All patients were treated equally in the modeling process without using MI information. Systolic and diastolic material parameter values in the Mooney-Rivlin models were adjusted to match echo volume data. The equivalent Young's modulus (YM) values were obtained for each material stress-strain curve by linear fitting for easy comparison. Predictive logistic regression analysis was used to identify the best parameters for infract prediction. The LV end-systole material stiffness (ES-YMf) was the best single predictor among the 12 individual parameters with an area under the receiver operating characteristic (ROC) curve of 0.9841. LV wall thickness (WT), material stiffness in fiber direction at end-systole (ES-YMf) and material stiffness variation (∆YMf) had positive correlations with LV ejection fraction with correlation coefficients r = 0.8125, 0.9495 and 0.9619, respectively. The best combination of parameters WT + ∆YMf was the best over-all predictor with an area under the ROC curve of 0.9951. Computational modeling and material stiffness parameters may be used as a potential tool to suggest if a patient had infarction based on echo data. Large-scale clinical studies are needed to validate these preliminary findings.

  18. Congenital deficiency of factor VII.

    Science.gov (United States)

    Sikka, M; Gomber, S; Madan, N; Rusia, U; Sharma, S

    1996-01-01

    A case of congenital factor VII deficiency in a five-year-old child is reported. The patient, born of a non-consanguineous marriage, presented with repeated bouts of epistaxis since childhood. The prothrombin time (PT) was markedly prolonged with a normal bleeding time (BT), partial thromboplastin time with Kaolin (PTTK) and platelet count. The patient has been on follow up for the last four years and is doing apparently well.

  19. Congenital chloride diarrhea: late presentation

    OpenAIRE

    Al Bishi, Laila; Mustafa,

    2011-01-01

    Laila Al Bishi1, Mustafa Al Toonisi2Pediatric Department, North West Armed Forces Hospital, Tabuk, Kingdom of Saudi ArabiaAbstract: We report the case of a male infant who presented with diarrhea at 6 months of age. He was failing to thrive, and biochemical investigation revealed hypokalemic hypochloremic metabolic alkalosis. Diagnosis of congenital chloride diarrhea was suspected and confirmed by the stool chloride result. He was started on high-dose sodium chloride and potassium chloride to...

  20. Congenital neuroblastoma with placental involvement

    OpenAIRE

    Kume, Ayako; Morikawa, Teppei; Ogawa, Makiko; Yamashita, Aki; Yamaguchi, Shunichi; Fukayama, Masashi

    2014-01-01

    We describe an extremely rare case of congenital neuroblastoma with placental involvement. A fetus with a left abdominal mass detected during ultrasonography at 23 weeks’ gestation developed hydrops fetalis by 26 weeks’ gestation. The mother developed hypertension at 26 5/7 weeks’ gestation. Based on a clinical diagnosis of pregnancy-induced hypertension, labor was induced at 26 6/7 weeks. However, intrauterine fetal death was diagnosed during delivery. Postmortern examination revealed a soli...

  1. Congenital adrenal hyperplasia: Case report.

    OpenAIRE

    Jaime Avaria E.; María José Vargas F.; Loreto Triviño F.; Andrea Gleisner E.

    2013-01-01

    INTRODUCTION: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disease whose main cause is the deficiency of 21-hydroxylase, an enzyme involved in the synthesis of cortisol and aldosterone. There are two forms of CAH, a classical and nonclassical form, being the first objective of analysis in the clinical case. Its clinical manifestations vary in severity, depending on the level of hormone deficiency. Within the classic is described the salt-wasting form, whose consequences are ...

  2. Aerobic Training in Patients with Congenital Myopathy.

    Directory of Open Access Journals (Sweden)

    Gitte Hedermann

    Full Text Available Congenital myopathies (CM often affect contractile proteins of the sarcomere, which could render patients susceptible to exercise-induced muscle damage. We investigated if exercise is safe and beneficial in patients with CM.Patients exercised on a stationary bike for 30 minutes, three times weekly, for 10 weeks at 70% of their maximal oxygen uptake (VO2max. Creatine kinase (CK was monitored as a marker of muscle damage. VO2max, functional tests, and questionnaires evaluated efficacy.Sixteen patients with CM were included in a controlled study. VO2max increased by 14% (range, 6-25%; 95% CI 7-20; p < 0.001 in the seven patients who completed training, and tended to decrease in a non-intervention group (n = 7; change -3.5%; range, -11-3%, p = 0.083. CK levels were normal and remained stable during training. Baseline Fatigue Severity Scale scores were high, 4.9 (SE 1.9, and tended to decrease (to 4.4 (SE 1.7; p = 0.08 with training. Nine patients dropped out of the training program. Fatigue was the major single reason.Ten weeks of endurance training is safe and improves fitness in patients with congenital myopathies. The training did not cause sarcomeric injury, even though sarcomeric function is affected by the genetic abnormalities in most patients with CM. Severe fatigue, which characterizes patients with CM, is a limiting factor for initiating training in CM, but tends to improve in those who train.The Regional Committee on Health Research Ethics of the Capital Region of Denmark H-2-2013-066 and ClinicalTrials.gov H2-2013-066.

  3. Congenital Portosystemic Shunt: Our Experience

    Directory of Open Access Journals (Sweden)

    Tiziana Timpanaro

    2015-01-01

    Full Text Available Introduction. Congenital portosystemic venous malformations are rare abnormalities in which the portal blood drains into a systemic vein and which are characterized by extreme clinical variability. Case Presentations. The authors present two case reports of a congenital extrahepatic portosystemic shunt (Type II. In the first patient, apparently nonspecific symptoms, such as headache and fatigue, proved to be secondary to hypoglycemic episodes related to the presence of a portosystemic shunt, later confirmed on imaging. During portal vein angiography, endovascular embolization of the portocaval fistula achieved occlusion of the anomalous venous tract. In the second patient, affected by Down’s syndrome, the diagnosis of a portosystemic malformation was made by routine ultrasonography, performed to rule out concurrent congenital anomalies. Because of the absence of symptoms, we chose to observe this patient. Conclusions. These two case reports demonstrate the clinical heterogeneity of this malformation and the need for a multidisciplinary approach. As part of a proper workup, clinical evaluation must always be followed by radiographic diagnosis.

  4. Congenital uronephropathy pattern in children

    Directory of Open Access Journals (Sweden)

    Husein Alatas

    2001-10-01

    Full Text Available To obtain the basic data of congenital uronephropathy pattern and the affecting factors in children, we conducted a cross-sectional study at the Department of Child Health Cipto Mangunkusumo (CM Hospital Jakarta from 1995 to 1999 and 9 teaching hospitals throughout Indonesia. During the study period 134 patients were obtained, 116 patients from the CM Hospital and 18 patients from other teaching hospitals. Most patients (48.8% were below 1 year of age; male were affected more than female (2.4:1. The disorder was classified into two groups, i.e., congenital nephropathy and uropathy. There were 10 children with nephropathy, i.e., 4 with unilateral renal hypoplasia, 3 with polycystic kidney, and 3 with renal agenesis. In the uropathy group, 43 were with hypospadia, 22 with primary reflux vesicoureter, 18 with neurogenic bladder, and 17 with ureteropelvic junction obstruction. The complications found were urinary tract infection (71.2%, chronic renal failure (15.7%, hypertension (3.7%, and acute renal failure (1.5%. Consanguinity, familial disorders, maternal diseases, x-ray exposure and abortion efforts were found in a small proportion of patients. History of drug or herbs use in the first trimester of pregnancy was found in a large proportion of patients, mostly took analgesics (especially acetaminophen. In conclusion, uropathy disorders were much more common than congenital nephropathy. The most common complication was urinary tract infection, followed by chronic renal failure, hypertension, and acute renal failure.

  5. [Congenital syphilis: incidence among newborns

    Science.gov (United States)

    Araújo, E C; Moura, E F; Ramos, F L; Holanda, V G

    1999-01-01

    OBJECTIVE: To determine the incidence of congenital syphilis among newborns at the maternity of a public hospital. METHODS: The study was conducted at the maternity of Fundação Santa Casa de Misericórdia do Pará, from May to September 1996; 361 mothers were interviewed, and physical examination was performed in their newborns. Serum samples from both, mothers and neonates, were tested using three methods: VDRL, FTA - Abs, ELISA IgM. The diagnosis of congenital syphilis was established according to the criteria defined by Ministério da Saúde in 1993. RESULTS: The rate of congenital syphilis was of 9.1% (33); in 14 cases, there were one or more signs of the disease: prematurity, hepatomegaly, stillbirth, splenomegaly, perinatal death, abdominal distention, nasal stuffiness, jaundice, newborn small for gestational age. The majority of the infected mothers belonged to the age group of 20-35 years (81.8%); 60.6% were married; 63.6% received prenatal care; 48.5% reported previous spontaneous abortion, and 12.1% previous stillbirth. The rate of bisexuality among fathers was of 9.1%. CONCLUSION: The syphilis control measures and the prenatal care, have not been sufficient to prevent the high rate of the disease.

  6. Seasonality of congenital anomalies in Europe

    DEFF Research Database (Denmark)

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

    2014-01-01

    seasonality of 65,764 nonchromosomal and 12,682 chromosomal congenital anomalies covering 3.3 million births. Analysis was performed by estimated month of conception. Analyses were performed for 86 congenital anomaly subgroups, including a combined subgroup of congenital anomalies previously associated......%), 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......BACKGROUND: This study describes seasonality of congenital anomalies in Europe to provide a baseline against which to assess the impact of specific time varying exposures such as the H1N1 pandemic influenza, and to provide a comprehensive and recent picture of seasonality and its possible relation...

  7. Major congenital anomalies in a Danish region

    DEFF Research Database (Denmark)

    Garne, Ester; Hansen, Anne Vinkel; Birkelund, Anne Sofie

    2014-01-01

    congenital anomaly, 13.9% had a chromosomal anomaly and 7.7% were multiple congenital anomalies. The combined foetal and infant mortality in the study area was 11.6 per 1,000 births. 19% (2.2 per 1,000) of these deaths were foetuses and infants with major congenital anomalies. Combined foetal and infant......INTRODUCTION: This study describes the prevalence of congenital anomalies and changes over time in birth outcome, mortality and chronic maternal diseases. MATERIAL AND METHODS: This study was based on population data from the EUROCAT registry covering the Funen County, Denmark, 1995......-2008. The registry covers live births, foetal deaths with a gestational age (GA) of 20 weeks or more, and terminations of pregnancy due to congenital anomalies (TOPFA). RESULTS: The overall prevalence of congenital anomalies was 2.70% (95% confidence interval: 2.58-2.80). The majority of cases had an isolated...

  8. CSF in the ventricles of the brain behaves as a relay medium for arteriovenous pulse wave phase coupling.

    Directory of Open Access Journals (Sweden)

    William E Butler

    Full Text Available The ventricles of the brain remain perhaps the largest anatomic structure in the human body without established primary purpose, even though their existence has been known at least since described by Aristotle. We hypothesize that the ventricles help match a stroke volume of arterial blood that arrives into the rigid cranium with an equivalent volume of ejected venous blood by spatially configuring cerebrospinal fluid (CSF to act as a low viscosity relay medium for arteriovenous pulse wave (PW phase coupling. We probe the hypothesis by comparing the spatiotemporal behavior of vascular PW about the ventricular surfaces in piglets to internal observations of ventricle wall motions and adjacent CSF pressure variations in humans. With wavelet brain angiography data obtained from piglets, we map the travel relative to brain pulse motion of arterial and venous PWs over the ventricle surfaces. We find that arterial PWs differ in CF phase from venous PWs over the surfaces of the ventricles consistent with arteriovenous PW phase coupling. We find a spatiotemporal difference in vascular PW phase between the ventral and dorsal ventricular surfaces, with the PWs arriving slightly sooner to the ventral surfaces. In humans undergoing neuroendoscopic surgery for hydrocephalus, we measure directly ventricle wall motions and the adjacent internal CSF pressure variations. We find that CSF pressure peaks slightly earlier in the ventral Third Ventricle than the dorsal Lateral Ventricle. When matched anatomically, the peri-ventricular vascular PW phase distribution in piglets complements the endo-ventricular CSF PW phase distribution in humans. This is consistent with a role for the ventricles in arteriovenous PW coupling and may add a framework for understanding hydrocephalus and other disturbances of intracranial pressure.

  9. Monitoring of congenital anomalies in Latvia.

    Science.gov (United States)

    Irisa Zilie; ViIIeruša, Anita; Gissler, Mika

    2014-09-01

    This study provides a description and analysis of characteristics of the monitoring system for congenital anomalies at birth and prevalence trends in Latvia using retrospective analysis of congenital anomalies at birth with cross-sectional data on prevalence (national data from Latvia, 2000-2010). There are three main monitoring systems on congenital anomalies among newborns and infants: the Medical Birth Register with data on live births with one or more congenital anomalies at birth, the Register on Congenital Anomalies with genetically approved cases for live births and the National Causes of Death Register with data on stillbirths. Methodological problems were analysed by calculating different prevalence rates. The main outcome measures are as follows: prevalence rate, live birth prevalence rate, major congenital anomalies live birth prevalence rate, and stillbirth rate. The live birth period prevalence was 319.7/10,000 live births, and the majoir congenital anomalies live birth prevalence was 211.4/10,000. The period total prevalence rate of births was.323.7/10,000 live births and stillbirths. The stillbirth rate due to congenital anomalies was 6.1/10,000 live and stillbirths. The live birth prevalence with congenital anomalies decreased slightly from the year 2000 tothe year 2010. The present system of congenital anomaly registration requires improvements for better completeness. Latvia should use the experience.of Nordic countries and introduce a mother's and children's identification number to the Medical Birth Register. It would be helpful to link the information from hospitals and perinatal centres together to validate the congenital anomaly diagnoses of newborns after their discharge from the maternity unit. The monitoring system should also include information on pregnancies with congenital anomalies which do not end in birth, especially terminations of pregnancy.

  10. Congenital esophageal stenosis owing to tracheobronchial remnants

    OpenAIRE

    Rebelo, Priscila Guyt; Ormonde, João Victor C.; Ormonde Filho, João Baptista C.

    2013-01-01

    OBJECTIVE To emphasize the need of an accurate diagnosis of congenital esophageal stenosis due to tracheobronchial remnants, since its treatment differs from other types of congenital narrowing. CASE DESCRIPTION Four cases of lower congenital esophageal stenosis due to tracheobronchial remnants, whose definitive diagnosis was made by histopathology. Except for the last case, in which a concomitant anti-reflux surgery was not performed, all had a favorable outcome after resection and anastomos...

  11. Congenital pseudoarthrosis associated with venous malformation

    International Nuclear Information System (INIS)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N.; Hamamy, H.; Al-Hadidi, S.

    2007-01-01

    Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

  12. Congenital pseudoarthrosis associated with venous malformation

    Energy Technology Data Exchange (ETDEWEB)

    Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)

    2007-06-15

    Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)

  13. Planispheric multiplanar reformatted CT: a new method for evaluation of paediatric congenital spine abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Menten, Renaud; Saint-Martin, Christine; Clapuyt, Philippe [Saint Luc University Hospital, Department of Paediatric Radiology, Brussels (Belgium); Mousny, Maryline [Saint Luc University Hospital, Department of Paediatric Orthopaedics, Brussels (Belgium)

    2005-06-01

    We describe an original reconstruction method for spine CT performed in four patients with single or multiple congenital spine abnormalities. Conventional radiographic imaging is at the forefront of diagnosis and follow-up of congenital scoliosis, but is frequently difficult to interpret. Three-dimensional CT reconstruction facilitates visualization of complex anatomic structures, but does not give a reliable assessment of failures of segmentation. Mental three-dimensional reconstruction of the information displayed by classical multiplanar reformatted CT remains difficult. Planispheric reformatted imaging allows the visualization of all deformities in a single plane. (orig.)

  14. Congenital scaphoid megalourethra associated with posterior urethral valve: A case report

    Directory of Open Access Journals (Sweden)

    Apoorva Achyut Kulkarni

    2018-01-01

    Full Text Available Congenital scaphoid megalourethra is a very rare congenital anomaly of the anterior urethra in males. Here, a case of scaphoid megalourethra and posterior urethral valves is presented. A one and half year old male child came to us with complaints of ballooning at the tip of penis since birth. Micturating cystourethrogram showed a dilated glanular urethra. The patient underwent a Nesbitt’s longitudinal reduction urethroplasty with a single-staged, single layered repair. Post-operatively, the child passed a healthy stream of urine without straining

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

    Directory of Open Access Journals (Sweden)

    L. Yu. Barycheva

    2015-01-01

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

  16. The prevalence of congenital anomalies in Europe

    DEFF Research Database (Denmark)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2010-01-01

    EUROCAT (European Surveillance of Congenital Anomalies) is the network of population-based registers of congenital anomaly in Europe, with a common protocol and data quality review, covering 1.5 million annual births in 22 countries. EUROCAT recorded a total prevalence of major congenital anomalies...... anomalies overwhelmingly concern children surviving the early neonatal period, who have important medical, social or educational needs. The prevalence of chromosomal anomalies was 3.6 per 1,000 births, contributing 28% of stillbirths/fetal deaths from 20 weeks gestation with congenital anomaly, and 48...

  17. Congenital hypothyroidism presenting with postpartum bradycardia

    International Nuclear Information System (INIS)

    Kara, S.; Tayman, C.; Tonbul, A.; Tatli, M.; Andiran, N.; Turkay, S.

    2013-01-01

    Congenital hypothyroidism is a clinical condition characterized by lack of thyroid hormone because of thyroid gland developmental and thyroid hormone biosynthesis disorders. The most common cause of permanent hypothyroidism is congenital factors. Prompt diagnosis is critical. However, overt signs of hypothyroidism are rarely present at birth, and 95% of affected babies are asymptomatic. Hypoxemia, apnea, acidosis, increased intracranial pressure, vagal stimulus and central nerve system abnormalities represent the most common causes of bradycardia in the neonate. Bradycardia associated with congenital hypothyroidism is very rare. In this paper, a case of severe congenital hypothyroidism, induced by maternal blocker antibodies, who presented with bradycardia, is reported. (author)

  18. Multiple Coronary Artery Microfistulas Associated with Apical Hypertrophic Cardiomyopathy: Left and Right Coronary Artery to the Left Ventricle

    Directory of Open Access Journals (Sweden)

    Jeong-Woo Choi

    2015-01-01

    Full Text Available A 76-year-old woman underwent coronary angiography for chest pain. On the coronary angiogram, no significant coronary artery atherosclerotic stenosis was observed. Multiple coronary artery microfistulas, draining from the left anterior descending artery to the left ventricle and from the posterior descending artery of the right coronary artery to the left ventricle, were observed. Apical wall thickening and fistula flow from the left anterior descending artery were demonstrated by using transthoracic echocardiography. We describe a rare case of multiple coronary artery microfistulas from the left and right coronary artery to the left ventricle combined with apical hypertrophic cardiomyopathy.

  19. Congenital hydrocephalus in clinical practice : A genetic diagnostic approach

    NARCIS (Netherlands)

    Verhagen, J. M. A.; Schrander-Stumpel, C. T. R. M.; Krapels, P. C.; de Die-Smulders, C. E. M.; van Lint, F. H. M.; Willekes, C.; Weber, J. W.; Gavilanes, A. W. D.; Macville, M. V. E.; Stegmann, A. P. A.; Engelen, J. J. M.; Bakker, J.; Vos, Y. J.; Frints, S. G. M.

    2011-01-01

    Congenital hydrocephalus is a common and often disabling disorder. The etiology is very heterogeneous. Little is known about the genetic causes of congenital hydrocephalus. A retrospective survey was performed including patients with primary congenital hydrocephalus referred to the Department of

  20. [Rosette-forming glioneuronal tumor of the fourth ventricle. Two cases report and literature review].

    Science.gov (United States)

    Choque Cuba, Bernardino; Ortega Zufiría, José Manuel; Poveda Núñez, Pedro Domingo; Lomillos Prieto, Noemí; Sierra Rodríguez, Mario; Tamarit Degenhardt, Martin; López Serrano, Remedios; Gómez Angulo Giner, Juan Carlos; Aramburu González, José Antonio

    2018-01-12

    Rosette-forming glioneuronal tumor of the fourth ventricle is a primary central nervous system tumor introduced in the group of glioneuronal tumors in the WHO classification of 2007. Initially it was described around the fourth ventricle, but recently have been published cases in different locations. We present 2cases of this rare tumor, both surgically treated. The first in a 41 year old man with typical symptoms of posterior fossa injury. The second in an 18 year old woman, with incidental finding of posterior fossa injury that was also surgically treated. We present pre- and post-surgical magnetic resonance images, histological pictures of this tumor and we make a review of the literature. Copyright © 2017 Sociedad Española de Neurocirugía. Publicado por Elsevier España, S.L.U. All rights reserved.