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Cardiac Defects (cardiac + defect)
Kinds of Cardiac Defects Selected AbstractsSuccessful Surgical Correction of a Single Atrium Associated with Cleft Mitral Valve Persistent Left Superior Vena Cava and Pulmonary Valvular Stenosis as an Isolated Cardiac DefectJOURNAL OF CARDIAC SURGERY, Issue 3 2005Akin Izgi M.D. It is extremely rare for SA to be observed as an isolated defect. We report here a 13-year-old male patient with SA as an isolated cardiac defect, successfully corrected by surgery. [source] Congenital Cardiac Defects in Neonatal Foals: 18 Cases (1992,2007)JOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 1 2010T.L. Hall Background: Literature available regarding congenital cardiac defects in foals is limited to reports of individual cases or small case series. Objective: To describe the clinical, echocardiographic, and necropsy findings and breed predilection of congenital cardiac defects in neonatal foals. Animals: Eighteen foals <15 days of age with 1 or more congenital cardiac defects. Methods: Medical records of foals diagnosed with congenital cardiac defects at the William R. Pritchard Veterinary Medical Teaching Hospital were reviewed. Data collected included history, signalment, clinical signs, laboratory data, diagnostic and necropsy results, and outcome. Results: Arabian foals represented 39% of cases with congenital cardiac defects and were significantly (P= .004) overrepresented (OR = 4.7 [CI: 1.8,12.4]) compared with the general hospital population. Ventricular septal defect (VSD) (14/18), tetralogy of Fallot (5/18), and tricuspid valve atresia (4/18) were the most common defects identified. A ,3/6 heart murmur (14/14) accompanied by tachycardia (14/17), tachypnea (17/17), and cyanosis of mucous membranes (7/16) were the most common clinical signs. Concurrent congenital defects were common (9/18). Two foals, both with VSD, survived for , 8 years after diagnosis and 1 was a successful performance horse. Conclusions and Clinical Relevance: Arabian horses appear to have a predisposition for cardiac defects. The presence of a loud murmur (, 3/6), cyanotic membranes, and tachycardia or tachypnea in a neonatal foal should warrant thorough evaluation of the heart for congenital defects. Foals with cardiac defects should be closely evaluated for concurrent congenital defects in other body systems. [source] Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in EuropePRENATAL DIAGNOSIS, Issue 4 2001C. Stoll Abstract Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996,1998, 709,030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into ,isolated' when only a cardiac malformation was present and ,associated' when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non-chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non-chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were livebirths. Concerning the syndromic cases, the detection rate of deletion 22q11, situs anomalies and VATER association was 44.4%, 64.7% and 46.6%, respectively. In conclusion, the present study shows large regional variations in the prenatal detection rate of CHD with the highest rates in European regions with three screening scans. Prenatal diagnosis of CHD is significantly higher if associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Mean gestational age at discovery was 20,24 weeks for the majority of associated cardiac defects. Copyright © 2001 John Wiley & Sons, Ltd. [source] Fetal cardiac effects of maternal hyperglycemia during pregnancyBIRTH DEFECTS RESEARCH, Issue 6 2009Niamh Corrigan Maternal diabetes mellitus is associated with increased teratogenesis, which can occur in pregestational type 1 and type 2 diabetes. Cardiac defects and with neural tube defects are the most common malformations observed in fetuses of pregestational diabetic mothers. The exact mechanism by which diabetes exerts its teratogenic effects and induces embryonic malformations is unclear. Whereas the sequelae of maternal pregestational diabetes, such as modulating insulin levels, altered fat levels, and increased reactive oxygen species, may play a role in fetal damage during diabetic pregnancy, hyperglycemia is thought to be the primary teratogen, causing particularly adverse effects on cardiovascular development. Fetal cardiac defects are associated with raised maternal glycosylated hemoglobin levels and are up to five times more likely in infants of mothers with pregestational diabetes compared with those without diabetes. The resulting anomalies are varied and include transposition of the great arteries, mitral and pulmonary atresia, double outlet of the right ventricle, tetralogy of Fallot, and fetal cardiomyopathy. A wide variety of rodent models have been used to study diabetic teratogenesis. Both genetic and chemically induced models of type 1 and 2 diabetes have been used to examine the effects of hyperglycemia on fetal development. Factors such as genetic background as well as confounding variables such as obesity appear to influence the severity of fetal abnormalities in mice. In this review, we will summarize recent data on fetal cardiac effects from human pregestational diabetic mothers, as well as the most relevant findings in rodent models of diabetic cardiac teratogenesis. Birth Defects Research (Part A), 2009. © 2009 Wiley-Liss, Inc. [source] Anomalous Left Anterior Descending Coronary Artery from the Pulmonary Artery, Unroofed Coronary Sinus, Patent Foramen Ovale, and a Persistent Left-sided SVC in a Single Patient: A Harmonious Quartet of DefectsCONGENITAL HEART DISEASE, Issue 2 2009Andrew J. Klein MD ABSTRACT Unroofing of the coronary sinus without complex structural heart defects is a rare congenital defect often seen in conjunction with a persistent left-sided superior vena cava. Anomalous origin of the left anterior descending artery from the pulmonary artery with normal origin of the left circumflex coronary artery is an even rarer congenital cardiac defect. We report a case of a 54-year-old woman presenting with mild dyspnea on exertion who was found on invasive and noninvasive evaluations to have a unique combination of defects,unroofed coronary sinus, persistent left-sided superior vena cava, patent foramen ovale, and anomalous origin of the left anterior descending artery from the pulmonary artery without evidence of previous coronary ischemia. [source] Successful Surgical Correction of a Single Atrium Associated with Cleft Mitral Valve Persistent Left Superior Vena Cava and Pulmonary Valvular Stenosis as an Isolated Cardiac DefectJOURNAL OF CARDIAC SURGERY, Issue 3 2005Akin Izgi M.D. It is extremely rare for SA to be observed as an isolated defect. We report here a 13-year-old male patient with SA as an isolated cardiac defect, successfully corrected by surgery. [source] Benefit of using a triple-lumen catheter to monitor left atrial pressureACTA ANAESTHESIOLOGICA SCANDINAVICA, Issue 4 2003H. Ceyran Background: Left atrial pressure (LAP) monitoring provides a useful option for management of hemodynamic status in pediatric open-heart surgical patients during the postoperative period. Patients and method: We used a triple-lumen catheter placed into the left atrium transseptally to measure left atrial pressure. Twenty children that were operated on in our clinic are included in this study: 11 males and nine females. A 5-Fr. triple-lumen radio-opaque polyethylene catheter was used for the procedure. After the repair of the primary cardiac defect, the distal end of the catheter was repositioned transseptally and advanced into the left atrium. The proximal and middle line's distal orifices were left in the right atrium. Distal line was used as a left atrial pressure line, the middle line as a central venous pressure line, and the proximal line as a route for fluid infusion or drug administration. Results: No mortality and no catheter-related complication were observed. No failure or complication occurred during withdrawal of the catheter. Conclusion: We conclude that this preliminary technique can be a useful and easy way of monitoring LAP, as well as providing central venous access. [source] Pacemaker Lead Infection in Young PatientsPACING AND CLINICAL ELECTROPHYSIOLOGY, Issue 7p1 2003DIDIER KLUG Transvenous pacing has become widespread in the pediatric population, but related pacemaker lead infection in young patients has rarely been reported. To determine prevalence and optimal management of pacemaker lead infection in children and young adults, the authors reviewed their pacing database including 4,476 patients who previously had pacemaker implantations from 1975 to 2001. A pacemaker was implanted in 304 patients under the age of 40. Of these patients 217 of them had congenital heart disease: 108 with structural defect, 109 without (mainly complete AV blocks). Among patients with congenital heart disease, 12 developed a pacemaker lead infection (5.5%, 6 patients with structural defect, 6 without). This incidence was significantly higher than in patients < 40 years at first implantation without congenital heart disease (2.3%) and in > 40-year-old patients(1.2%, P < 0.001). However, the number of reinterventions at the pulse generator site was higher in patients having had their first implantation before the age of 40. In patients with structural cardiac defect: two died after surgical lead extraction and one died before the scheduled lead extraction. The three remaining patients had successful surgical (n = 1) or percutaneous (n = 2) lead extractions. In patients without structural cardiac defect successful percutaneous extraction (5/6) or surgical extraction (1/6 with vegetation > 25 mm) was performed. One patient with percutaneous extraction developed chronic cor pulmonale during follow-up. One infection recurred in one patient with structural cardiac defect although complete removal of the pacing material had been performed. The prevalence of pacemaker lead infection is higher in younger patients, perhaps in part due to a higher number of procedures at the pacemaker site than in the general population of patients with a pacemaker. Patients with structural cardiac defect who underwent surgical lead removal were at high risk for death. Patients with percutaneous lead extraction may develop cor pulmonale. (PACE 2003; 26[Pt. I]:1489,1493) [source] Spinal anaesthesia in a child with hypoplastic left heart syndromePEDIATRIC ANESTHESIA, Issue 3 2003S. Sacrista MD Summary Hypoplastic left heart syndrome (HLHS), a complex congenital heart disease, is the most common lethal cardiac defect in neonates. Its treatment includes cardiac transplantation and/or surgical palliation. Associated extracardiac congenital abnormalities are exceptional. We report the case of a neonate with HLHS and anorectal atresia who required urgent surgical management to relieve intestinal obstruction. The surgery was successfully performed under spinal anaesthesia. [source] Correlation of ultrasound findings and biochemical markers in the second trimester of pregnancy in fetuses with trisomy 21PRENATAL DIAGNOSIS, Issue 3 2002Vivienne L. Souter Abstract Objective The aim of the present study was to assess possible correlations between ultrasound findings and maternal serum biochemical (,triple test') markers among fetuses with trisomy 21 in the second trimester of pregnancy. Methods The study was a retrospective cohort study of 72 pregnancies affected by trisomy 21 who had a second trimester ultrasound and biochemical screen performed at a single center between 1990 and 1999. The biochemical screen consisted of alpha-fetoprotein (AFP), total beta human chorionic gonadotrophin (hCG) and estriol (uE3). Marker levels were expressed in multiples of the median (MoM). The ultrasound findings assessed were major structural anomalies, short humerus length, short femur length, increased nuchal fold thickness (NF), hyperechoic bowel, echogenic intracardiac focus (EIF), ventriculomegaly, choroid plexus cysts and renal pyelectasis. Results Second trimester maternal serum biochemical markers and ultrasound findings appeared to be largely independent of each other. However, some significant correlations were observed. Estriol was significantly lower when a fetal cystic hygroma was detected on ultrasound compared to those with no cystic hygroma (0.40 vs 0.70 MoM, p<0.05). The median hCG level was significantly lower in those pregnancies with a normal second trimester fetal ultrasound compared to those with positive ultrasound findings (2.07 vs 2.87 MoM, p<0.05). Median hCG levels were also significantly higher in those cases with NF,5,mm as compared to those with NF<5,mm (2.99 vs 2.49 MoM, p<0.05). This difference persisted after exclusion of the five cases with cystic hygromas (2.99 vs 2.49 MoM, p<0.05). A significant positive correlation was observed between log10 hCG and log10 NF MoM (Spearman's ,=0.252, p<0.05). NF was significantly greater among fetuses with an identifiable cardiac defect compared with those without a detectable cardiac defect (median of 7.0,mm vs 3.8,mm, p<0.01). This difference persisted when expressed as multiples of the median (2.8 vs 1.3 MoM, p<0.01). Conclusion Second trimester ultrasound and biochemical markers are largely independent in fetuses with trisomy 21, however significant correlations between the two were observed in the present series. These may be important in screening protocols that combine second trimester ultrasound and biochemical markers. Copyright © 2002 John Wiley & Sons, Ltd. [source] Aortic and ventricular dilation and myocardial reduction in gestation day 17 ICR mouse fetuses of diabetic mothersBIRTH DEFECTS RESEARCH, Issue 6 2007J. Claudio Gutierrez Abstract BACKGROUND: Maternal diabetes mellitus is associated with increased fetal teratogenesis, including cardiovascular defects. Information regarding cardiovascular changes in late-gestation fetal mice, related to maternal hyperglycemia, is not present in the literature. METHODS: Late-gestation fetal heart and great vessel morphology were analyzed in fetuses from control and diabetic mice. Female ICR mice were injected with streptozocin (200 mg/kg IP) prior to mating to induce diabetes (n = 8). Nonhyperglycemic females were used as controls (n = 8). At day 17 of gestation, females were euthanized and one fetus was arbitrarily selected per litter to analyze the heart and great vessels. Six additional fetuses from different litters, showing external malformations (spina bifida and/or exencephaly), were also evaluated from the diabetic group. Fetal thoraxes were processed using routine histopathologic techniques, and 7-,m transversal sections were stained with hematoxylin-eosin. Digital images of sections were made and analyzed using NIH Image J software to compare regional cardiac development. Student's t tests for means were performed to determine differences between groups (p < .05). RESULTS: Maternal hyperglycemia caused a dilation of late-gestation fetal ventricular chambers, a reduction of total ventricular myocardial area, and an increase in transversal ascending thoracic aortic area. Three of six fetuses that displayed external malformations showed an overt cardiac defect, beyond the ventricular and myocardial changes. CONCLUSIONS: Maternal hyperglycemia altered morphology of the late-gestation fetal mouse heart. Postnatal persistence or consequences of late-gestation heart chamber dilation and myocardial reduction are not yet known. Birth Defects Research (Part A) 2007. © 2007 Wiley-Liss, [source] Isolated levocardia: Prenatal diagnosis and managementCONGENITAL ANOMALIES, Issue 2 2009Satoko Katsuya ABSTRACT Isolated levocardia (IL) is a rare condition of situs anomaly in which there is a normal left-sided heart (levocardia) with dextro position of the abdominal viscera. IL has been reported in children and adults with complex cardiac defects, whereas there are only few published reports regarding the prenatal diagnosis of IL. We report two prenatal cases of IL diagnosed by ultrasonography and magnetic resonance imaging (MRI). In both cases, fetal cardiac function remained within the normal range throughout pregnancy, and no treatment for the heart was required after birth. For the dextro position of abdominal viscera, one case was followed without any surgical procedure, but the other case required prophylactic operation due to malrotation of the small intestine. Although the prognosis of IL largely depends on the severity of associated cardiac anomaly, future bowel obstruction caused by intestinal malrotation may also be life-threatening. In this respect, prenatal diagnosis of IL is important, even when there is no associated cardiac structural anomaly. If IL is suspected in routine fetal ultrasonography, MRI may be recommended to obtain more detailed information on the anatomy of abdominal viscerae, and careful observation for bowel problems is required, especially after oral nutrition is started. [source] Congenital malformations in infants whose mothers reported the use of folic acid in early pregnancy in Sweden.CONGENITAL ANOMALIES, Issue 4 2007A prospective population study ABSTRACT The use of folic acid prior to conception is generally recommended for the prevention of birth defects, notably neural tube defects. In a previous study from Sweden, based on interviews of women in early pregnancy, no such effect was found on the general malformation rate, but data for neural tube defects were scarce. Using data from the Swedish Medical Birth Register for the years 1995,2004, 20 891 women were identified who reported the use of folic acid in early pregnancy, but not of anticonvulsants. These women were compared to all other women who gave birth during the study period. Malformations in the infants born were identified from multiple sources. No reduction in the general malformation rate was seen among infants born to women who reported the use of folic acid (OR = 1.09, 95% CI 1.02,1.17) and no effect of neural tube defect rate was seen (RR = 1.35, 95% CI 0.82,2.22), based on 16 infants with neural tube defect whose mother reported the use of folic acid. No effect was seen on the rates of other malformations except for cardiac defects, where a statistically significant increased risk (notably for severe defects) was found (OR = 1.19, 95% CI 1.05,1.35). The effect of various deficiencies in data collection is discussed, but is unlikely to explain the lack of protective effect noticed. So far, it has not been possible to demonstrate a beneficial effect of folic acid supplementation on malformation risk in Sweden. A more complete ascertainment and detailed timing and dosage of folic acid use in a prospective study is recommended. [source] Activation of Tolloid-like 1 gene expression by the cardiac specific homeobox gene Nkx2,5DEVELOPMENT GROWTH & DIFFERENTIATION, Issue 4 2009Inna Sabirzhanova Mammalian Tolloid-like 1 (Tll-1) is a pleiotropic metalloprotease that is expressed by a small subset of cells within the precardiac mesoderm and is necessary for proper heart development. Following heart tube formation Tll-1 is expressed by the endocardium and regions of myocardium overlying the region of the muscular interventricular septum. Mutations in Tll-1 lead to embryonic lethality due to cardiac defects. We demonstrate that the Tll-1 promoter contains Nkx2,5 binding sites and that the Tll-1 promoter is activated by and directly binds Nkx2,5. Tll-1 expression is ablated by a dominant negative Nkx2,5 or by mutation of the Nkx2,5 binding sites within the Tll-1 promoter. In vivo, Tll-1 expression is decreased in the hearts of Nkx2,5 knockout embryos when compared with hemizygous and wild-type embryos. These results show that Nkx2,5 is a direct activator of Tll-1 expression and provide insight into the mechanism of the defects found in both the Tll-1 and Nkx2,5 knockout mice. [source] Pod1 is required in stromal cells for glomerulogenesisDEVELOPMENTAL DYNAMICS, Issue 3 2003Shiying Cui Abstract Pod1 (capsulin/epicardin/Tcf21) is a basic-helix-loop-helix transcription factor that is highly expressed in the mesenchyme of developing organs that include the kidney, lung, gut, and heart. Null Pod1 mice are born but die shortly after birth due to a lack of alveoli in the lungs and cardiac defects. In addition, the kidneys are hypoplastic and demonstrate disrupted branching morphogenesis of the ureteric bud epithelium, a marked reduction in the number of nephrons, a delay in glomerulogenesis, and blood vessel abnormalities. To further dissect the cellular function of Pod1 during kidney development, chimeric mice were generated through aggregations of null Pod1 embryonic stem cells and murine embryos ubiquitously expressing enhanced green fluorescent protein (GFP). Histologic, immunohistochemical, and in situ hybridization analysis of the resulting chimeric offspring demonstrated both cell autonomous and non,cell autonomous roles for Pod1 in the differentiation of specific renal cell lineages that include peritubular interstitial cells and pericytes. Most strikingly, the glomerulogenesis defect was rescued by the presence of wild-type stromal cells, suggesting a non,cell autonomous role for Pod1 in this cell population. © 2003 Wiley-Liss, Inc. [source] Effect of elevated homocysteine on cardiac neural crest migration in vitroDEVELOPMENTAL DYNAMICS, Issue 2 2002Philip R. Brauer Abstract A positive correlation between elevated maternal homocysteine (Hcys) and an increased risk of neural tube, craniofacial, and cardiac defects is well known. Studies suggest Hcys perturbs neural crest (NC) development and may involve N-methyl-D-aspartate (NMDA) receptors (Rosenquist et al., 1999). However, there is no direct evidence that Hcys alters NC cell behavior. Here, we evaluated the effect of Hcys on cardiac NC cell migratory behavior in vitro. Neural tube segments from chick embryos treated in ovo with or without Hcys were placed in culture and the migratory behavior of emigrating NC cells was monitored. Hcys significantly increased in vitro NC cell motility at all embryonic stages examined. NC cell surface area and perimeter were also increased. However, the relative distance NC cells migrated from their original starting point only increased in NC cells treated in ovo at stage 6 or at the time neural tube segments were cultured. Cysteine had no effect. NMDA mimicked Hcys' effect on NC motility and migration distance but had no effect on cell area or perimeter. The noncompetitive inhibitor of NMDA receptors, MK801+, significantly inhibited NC cell motility, reduced migration distance, and also blocked the effects of NMDA and Hcys on NC motility and migratory distance in vitro. A monoclonal antibody directed against the NMDA receptor immunostained NC cells in vitro and, in western blots, bound a single protein with the appropriate molecular weight for the NMDA receptor in NC cell lysates. These data are consistent with the hypothesis that a Hcys-sensitive NMDA-like receptor is expressed by early emigrating NC cells or their precursors, which is important in mediating their migratory behavior. Perturbation of this receptor may be related to some of the teratogenic effects observed with elevated Hcys. © 2002 Wiley-Liss, Inc. [source] Dysregulation of monocyte oxidative burst in streptococcal endocarditisEUROPEAN JOURNAL OF CLINICAL INVESTIGATION, Issue 10 2001E. Presterl Background Streptococcal subacute endocarditis is characterized by low-grade systemic inflammation. Although structural cardiac defects are pivotal, phagocytic cells, i.e. monocytes and neutrophils, are involved in the induction and the course of bacterial endocarditis. Decreased production of reactive oxygen metabolites was described in long-lasting infections. We hypothesized that the oxidative burst of phagocytes induced by the infecting organism is defective in patients with streptococcal endocarditis. Patients and methods The monocytes and neutrophils of 11 patients with streptococcal native valve endocarditis were challenged with the respective pathogens and two control streptococcal strains, and the oxidative burst was determined by fluorescence-activated cell sorter analysis. These experiments were done before any antibiotic therapy was administered, and repeated at least 12 months after recovery. Eight volunteers served as healthy controls. Results The monocyte response to the respective pathogens was decreased in the patient groups compared to the response to the control streptococci. After cure the monocyte response to the pathogens was not different to the response to the control strains. The monocyte response of the healthy volunteers did not show any differences between the patients' pathogens and the control strains. The neutrophil oxidative burst to the pathogens was similar to that to the control streptococci in both patient and the volunteer group. Conclusion The decreased response of patient monocytes to the pathogens may contribute to the low-grade inflammatory response and to the course of streptococcal endocarditis. [source] Bayesian statistics in medical research: an intuitive alternative to conventional data analysisJOURNAL OF EVALUATION IN CLINICAL PRACTICE, Issue 2 2000AStat, Lyle C. Gurrin BSc (Hons) Summary Statistical analysis of both experimental and observational data is central to medical research. Unfortunately, the process of conventional statistical analysis is poorly understood by many medical scientists. This is due, in part, to the counter-intuitive nature of the basic tools of traditional (frequency-based) statistical inference. For example, the proper definition of a conventional 95% confidence interval is quite confusing. It is based upon the imaginary results of a series of hypothetical repetitions of the data generation process and subsequent analysis. Not surprisingly, this formal definition is often ignored and a 95% confidence interval is widely taken to represent a range of values that is associated with a 95% probability of containing the true value of the parameter being estimated. Working within the traditional framework of frequency-based statistics, this interpretation is fundamentally incorrect. It is perfectly valid, however, if one works within the framework of Bayesian statistics and assumes a ,prior distribution' that is uniform on the scale of the main outcome variable. This reflects a limited equivalence between conventional and Bayesian statistics that can be used to facilitate a simple Bayesian interpretation based on the results of a standard analysis. Such inferences provide direct and understandable answers to many important types of question in medical research. For example, they can be used to assist decision making based upon studies with unavoidably low statistical power, where non-significant results are all too often, and wrongly, interpreted as implying ,no effect'. They can also be used to overcome the confusion that can result when statistically significant effects are too small to be clinically relevant. This paper describes the theoretical basis of the Bayesian-based approach and illustrates its application with a practical example that investigates the prevalence of major cardiac defects in a cohort of children born using the assisted reproduction technique known as ICSI (intracytoplasmic sperm injection). [source] Congenital Cardiac Defects in Neonatal Foals: 18 Cases (1992,2007)JOURNAL OF VETERINARY INTERNAL MEDICINE, Issue 1 2010T.L. Hall Background: Literature available regarding congenital cardiac defects in foals is limited to reports of individual cases or small case series. Objective: To describe the clinical, echocardiographic, and necropsy findings and breed predilection of congenital cardiac defects in neonatal foals. Animals: Eighteen foals <15 days of age with 1 or more congenital cardiac defects. Methods: Medical records of foals diagnosed with congenital cardiac defects at the William R. Pritchard Veterinary Medical Teaching Hospital were reviewed. Data collected included history, signalment, clinical signs, laboratory data, diagnostic and necropsy results, and outcome. Results: Arabian foals represented 39% of cases with congenital cardiac defects and were significantly (P= .004) overrepresented (OR = 4.7 [CI: 1.8,12.4]) compared with the general hospital population. Ventricular septal defect (VSD) (14/18), tetralogy of Fallot (5/18), and tricuspid valve atresia (4/18) were the most common defects identified. A ,3/6 heart murmur (14/14) accompanied by tachycardia (14/17), tachypnea (17/17), and cyanosis of mucous membranes (7/16) were the most common clinical signs. Concurrent congenital defects were common (9/18). Two foals, both with VSD, survived for , 8 years after diagnosis and 1 was a successful performance horse. Conclusions and Clinical Relevance: Arabian horses appear to have a predisposition for cardiac defects. The presence of a loud murmur (, 3/6), cyanotic membranes, and tachycardia or tachypnea in a neonatal foal should warrant thorough evaluation of the heart for congenital defects. Foals with cardiac defects should be closely evaluated for concurrent congenital defects in other body systems. [source] Intraoperative extracorporeal membrane oxygenation and survival of pediatric patients undergoing repair of congenital heart diseasePEDIATRIC ANESTHESIA, Issue 8 2008RANDALL P. FLICK MD Summary Background:, We studied the association between the introduction of extracorporeal membrane oxygenation (ECMO) into routine practice and the survival of children who failed weaning from cardiopulmonary bypass (CPB). We compare two periods, before formal introduction of ECMO in our institution (1993,1999, pre-ECMO era) and after ECMO became a formalized program (2000,2006, ECMO era). Methods:, Retrospective review of Mayo Clinic Database between 1993 and 2006 for outcomes of patients <18 years old who required ECMO during repair of congenital heart malformations. Results:, Thirty-five children during ECMO era received intraoperative ECMO, and 17 (54%) survived to hospital discharge. The frequency of ECMO use was the highest in neonates, therefore, this was the only subcohort of pediatric patients that allowed comparison of survival between the pre-ECMO and ECMO eras. When compared to pre-ECMO era, neonatal survival increased during ECMO era (P = 0.043). ECMO was mostly used in neonates with higher complexity of cardiac defects undergoing more complex repairs, and the overall improvement of survival was primarily due to better survival of these patients. During pre-ECMO era, survival was lower in patients with higher risk (P = 0.001). However, during ECMO era, no difference in survival was observed across assigned risk groups (P = 0.658). Conclusions:, The availability of ECMO for neonates failing to wean from CPB was associated with improved survival, especially in children undergoing repair of the most complex congenital heart malformations. After introduction of ECMO, survival improved and no longer depended upon the complexity of surgical repair. [source] Three and four dimensional ultrasound: a novel method for evaluating fetal cardiac anomaliesPRENATAL DIAGNOSIS, Issue 7 2009L. Gindes Abstract Objective To evaluate the role of various new models of 3- and 4-dimensional (3D and 4D) ultrasound (US) applications in prenatal assessment of fetal cardiac anomalies. Methods Volume data sets of 81 fetuses with fetal cardiac anomalies, as previously diagnosed by 2D US, were acquired by 3D and cine 4D using spatiotemporal image correlation (STIC) software. Various additional rendering tools were applied. Color, power, high definition Doppler and B-flow were added to the volumes acquired. A retrospective offline analysis of the cardiac defects was performed. Results The mean gestational age at diagnosis was 24 weeks (range 13,38); 128 anomalies were detected and were classified into the following categories: I, Situs anomalies in 8 cases; II, abnormal four-chamber view in 63 cases; III, outflows tract anomalies in 27 cases; IV, arches anomalies in 21 cases; and V, veins anomalies in 9 cases. Rendering tools differed in each groups of anomalies. Conclusions Fetal cardiac anomalies can be evaluated adequately by the information gained by 3D and 4D volumes obtained by STIC. Since no single module is sufficiently accurate for the diagnosis of all cardiac anomalies, each of the cardiac anomaly categories requires different and appropriate module of visualization. Copyright © 2009 John Wiley & Sons, Ltd. [source] Diagnosis of cardiac defects: where we have been, where we are, and where we are goingPRENATAL DIAGNOSIS, Issue 1 2003Mark Kilby No abstract is available for this article. [source] Diagnosis of cardiac defects: where we've been, where we are and where we're goingPRENATAL DIAGNOSIS, Issue 4 2002Alan H. Friedman Abstract There has been tremendous development in the field of prenatal diagnosis of cardiac disease in the last 30 years. Early work centered on the technical aspects of providing an accurate assessment of cardiac structure and function. Techniques of fetal cardiac screening have been developed and utilized throughout the world. More recently, investigators have begun to explore the ramifications of fetal cardiac diagnosis by assessing measures of outcome. In this article, the field of fetal echocardiography, as a screening tool for identifying congenital heart disease, and its impact on disease outcome is reviewed. Copyright © 2002 John Wiley & Sons, Ltd. [source] Detection of fetal structural abnormalities at the 11,14 week ultrasound scanPRENATAL DIAGNOSIS, Issue 1 2002M. H. B. Carvalho Abstract The aim of this study was to evaluate the detection of fetal structural abnormalities by the 11,14 week scan. 2853 pregnant women were submitted to a routine ultrasound scan between the 11th and 14th week and the fetal skull, brain, spine, abdominal wall, limbs, stomach and bladder were examined. Following the scans the patientes were examined in the second or third trimester of pregnancy. An isolated increased nuchal translucency was not considered an abnormality. However, these patients had an early echocardiography assessment. Fetal structural abnormalities were classified as major or minor and of early or late onset. A total of 130 (4.6%) defects were identified and 29 (22.3%) of these were diagnosed at the 11,14 week scan, including nine cardiac defects associated with increased nuchal translucency. The antenatal ultrasound detection rate was 71.5%, and 31.2% were detected in the first-trimester assessment. 78.8% of the major defects were diagnosed by the prenatal scan and 37.8% by the 11,14 week scan. Fetal structural abnormalities at the 11,14 week scan were detected in approximately 22.3% of the cases, therefore, a second-trimester anomaly scan is important in routine antenatal care to increase the prenatal detection of fetal defects. Copyright © 2002 John Wiley & Sons, Ltd. [source] Evaluation of prenatal diagnosis of associated congenital heart diseases by fetal ultrasonographic examination in EuropePRENATAL DIAGNOSIS, Issue 4 2001C. Stoll Abstract Ultrasound scans in the mid trimester of pregnancy are now a routine part of antenatal care in most European countries. With the assistance of Registries of Congenital Anomalies a study was undertaken in Europe. The objective of the study was to evaluate prenatal detection of congenital heart defects (CHD) by routine ultrasonographic examination of the fetus. All congenital malformations suspected prenatally and all congenital malformations, including chromosome anomalies, confirmed at birth were identified from the Congenital Malformation Registers, including 20 registers from the following European countries: Austria, Croatia, Denmark, France, Germany, Italy, Lithuania, Spain, Switzerland, The Netherlands, UK and Ukrainia. These registries follow the same methodology. The study period was 1996,1998, 709,030 births were covered, and 8126 cases with congenital malformations were registered. If more than one cardiac malformation was present the case was coded as complex cardiac malformation. CHD were subdivided into ,isolated' when only a cardiac malformation was present and ,associated' when at least one other major extra cardiac malformation was present. The associated CHD were subdivided into chromosomal, syndromic non-chromosomal and multiple. The study comprised 761 associated CHD including 282 cases with multiple malformations, 375 cases with chromosomal anomalies and 104 cases with non-chromosomal syndromes. The proportion of prenatal diagnosis of associated CHD varied in relation to the ultrasound screening policies from 17.9% in countries without routine screening (The Netherlands and Denmark) to 46.0% in countries with only one routine fetal scan and 55.6% in countries with two or three routine fetal scans. The prenatal detection rate of chromosomal anomalies was 40.3% (151/375 cases). This rate for recognized syndromes and multiply malformed with CHD was 51.9% (54/104 cases) and 48.6% (137/282 cases), respectively; 150/229 Down syndrome (65.8%) were livebirths. Concerning the syndromic cases, the detection rate of deletion 22q11, situs anomalies and VATER association was 44.4%, 64.7% and 46.6%, respectively. In conclusion, the present study shows large regional variations in the prenatal detection rate of CHD with the highest rates in European regions with three screening scans. Prenatal diagnosis of CHD is significantly higher if associated malformations are present. Cardiac defects affecting the size of the ventricles have the highest detection rate. Mean gestational age at discovery was 20,24 weeks for the majority of associated cardiac defects. Copyright © 2001 John Wiley & Sons, Ltd. [source] Aortic Valve Surgery in Congenital Heart Disease: A Single-Center ExperienceARTIFICIAL ORGANS, Issue 3 2010Kasim Oguz Coskun Abstract The optimal treatment of congenital aortic valve lesions is a controversial issue. This study was performed to evaluate the outcome after surgical treatment of aortic valve lesions in congenital aortic valve disease. Between the years of 2000 and 2008, 61 patients (mean age: 12.6 ± 9.6 years, range: 1 day to 40 years) underwent aortic valve surgery for congenital aortic valve disease. Twenty-four patients had undergone previous cardiovascular operations. Indications for surgery were aortic regurgitation in 14.7% (n = 9), aortic stenoses in 26.2% (n = 16), and mixed disease in 59.1% (n = 36). The Ross procedure was performed in 37.7% (n = 23), aortic valve replacement with biological or mechanical prostheses in 29.5% (n = 18). Concomitant procedures were performed in 91.8% (n = 56) due to associated congenital cardiac defects. The overall mortality rate was 5%. Six patients needed reoperation. Implantation of permanent pacemakers occurred in six patients for permanent atrioventricular block. At the latest clinical evaluation, all survivors are in New York Heart Association class I,II and are living normal lives. Aortic valve surgeries in patients with congenital heart disease have had low mortality and morbidity rates in our series. Surgical technique as well as timing should be tailored for each patient. Aortic valve replacement should be delayed until the implantation of an adult-sized prosthesis is possible. [source] Positive inotropic effect of coenzyme Q10, omega-3 fatty acids and propionyl-L-carnitine on papillary muscle force-frequency responses of BIO TO-2 cardiomyopathic Syrian hamstersBIOFACTORS, Issue 1-4 2008Romina Vargiu Abstract The inability of heart muscle to generate ventricular pressure to adequately propel blood through the cardiovascular system is a primary defect associated with congestive heart failure (CHF). Force-frequency relationship (FFR) is one of the main cardiac defects associated with congestive heart failure. Thus FFR is a convenient methodological tool for evaluating the severity of muscle contractile dysfunction and the effectiveness of therapeutic agents. Papillary muscle isolated from BIO TO-2 cardiomyopathic Syrian hamsters (CMSHs), show a depressed FFR and represents an animal model of human idiopathic dilated cardiomyopathy. In the present study we investigated the effect of CoQ10, omega-3 fatty acids, propionyl-L-carnitine (PLC) and a combination of these 3 agents (formulation HS12607) on FFR in 8 month old BIO TO-2 CMSHs. Papillary muscles isolated from the anesthetized animals were placed in an incubation bath and attached to an isometric force transducer. A digital computer with an analog/digital interface allowed control of both muscle developed force and electrical stimulus parameters. Force-frequency response was evaluated, at Lmax, with increasing frequencies: 0.06, 0.12, 0.25, 0.5, 1, 2 and 4 Hz. HS12607-treatment produced a positive inotropic effect resulting in a significant enhancement (p < 0.05) of the peak force at the highest frequencies (1,4 Hz). In the range of frequency of 1,4 Hz also CoQ10 and omega-3 significantly(p < 0.05) attenuated the fractional decline in developed force. The significant improvement (p < 0.05) of the timing parameter peak rate of tension rise (+T') and peak rate of tension fall (,T') indicating a faster rate of muscle contraction and relaxation respectively, found in CoQ10, omega-3 and PLC-treated CMSHs, may be due to the positive effects of these substances on sarcoplasmic reticulum functions. These findings suggest that naturally occurring CoQ10, omega-3 and PLC, particularly when administered together in a coformulation, might be a valid adjuvant to conventional therapy in dilated cardiomyopathy especially when considering that they are natural substances, devoid of side effects. [source] Fetal cardiac effects of maternal hyperglycemia during pregnancyBIRTH DEFECTS RESEARCH, Issue 6 2009Niamh Corrigan Maternal diabetes mellitus is associated with increased teratogenesis, which can occur in pregestational type 1 and type 2 diabetes. Cardiac defects and with neural tube defects are the most common malformations observed in fetuses of pregestational diabetic mothers. The exact mechanism by which diabetes exerts its teratogenic effects and induces embryonic malformations is unclear. Whereas the sequelae of maternal pregestational diabetes, such as modulating insulin levels, altered fat levels, and increased reactive oxygen species, may play a role in fetal damage during diabetic pregnancy, hyperglycemia is thought to be the primary teratogen, causing particularly adverse effects on cardiovascular development. Fetal cardiac defects are associated with raised maternal glycosylated hemoglobin levels and are up to five times more likely in infants of mothers with pregestational diabetes compared with those without diabetes. The resulting anomalies are varied and include transposition of the great arteries, mitral and pulmonary atresia, double outlet of the right ventricle, tetralogy of Fallot, and fetal cardiomyopathy. A wide variety of rodent models have been used to study diabetic teratogenesis. Both genetic and chemically induced models of type 1 and 2 diabetes have been used to examine the effects of hyperglycemia on fetal development. Factors such as genetic background as well as confounding variables such as obesity appear to influence the severity of fetal abnormalities in mice. In this review, we will summarize recent data on fetal cardiac effects from human pregestational diabetic mothers, as well as the most relevant findings in rodent models of diabetic cardiac teratogenesis. Birth Defects Research (Part A), 2009. © 2009 Wiley-Liss, Inc. [source] Developmental consequences of abnormal folate transport during murine heart morphogenesis ,BIRTH DEFECTS RESEARCH, Issue 7 2004Louisa S. Tang Abstract BACKGROUND Folic acid is essential for the synthesis of nucleotides and methyl transfer reactions. Folic acid,binding protein one (Folbp1) is the primary mediator of folic acid transport into murine cells. Folbp1 knockout mouse embryos die in utero with multiple malformations, including severe congenital heart defects (CHDs). Although maternal folate supplementation is believed to prevent human conotruncal heart defects, its precise role during cardiac morphogenesis remains unclear. In this study, we examined the role of folic acid on the phenotypic expression of heart defects in Folbp1 mice, mindful of the importance of neural crest cells to the formation of the conotruncus. METHODS To determine if the Folbp1 gene participates in the commitment and differentiation of the cardiomyocytes, relative levels of dead and proliferating precursor cells in the heart were examined by flow cytometry, Western blot, and immunohistostaining. RESULTS Our studies revealed that impaired folic acid transport results in extensive apoptosis-mediated cell death, which concentrated in the interventricular septum and truncus arteriosus, thus being anatomically restricted to the two regions of congenital heart defects. Together with a reduced proliferative capacity of the cardiomyocytes, the limited size of the available precursor cell pool may contribute to the observed cardiac defects. Notably, there is a substantial reduction in Pax-3 expression in the region of the presumptive migrating cardiac neural crest, suggesting that this cell population may be the most severely affected by the massive cell death. CONCLUSIONS Our findings demonstrate for the first time a prominent role of the Folbp1 gene in mediating susceptibility to heart defects. Birth Defects Research (Part A), 2004. © 2004 Wiley-Liss, Inc. [source] Completeness of state administrative databases for surveillance of congenital heart diseaseBIRTH DEFECTS RESEARCH, Issue 9 2003Christine E. Cronk Abstract BACKGROUND Tracking birth prevalence of cardiac defects is essential to determining time and space clusters, and identifying potential associated factors. Resource limitations on state birth defects surveillance programs sometimes require that databases already available be used for ascertaining such defects. This study evaluated the data quality of state administrative databases for ascertaining congenital heart defects (CHD) and specific diagnoses of CHD. METHODS Children's Hospital of Wisconsin (CHW) medical records for infants born 1997,1999 and treated for CHD (n = 373) were abstracted and each case assigned CHD diagnoses based on definitive diagnostic reports (echocardiograms, catheterizations, surgical or autopsy reports). These data were linked to state birth and death records, and birth and postnatal (<1 year of age) hospital discharge summaries at the Wisconsin Bureau of Health Information (WBHI). Presence of any code/checkbox indicating CHD (generic CHD) and exact matches to abstracted diagnoses were evaluated. RESULTS Fifty-eight percent of cases with generic CHD were identified by state databases. Postnatal hospital discharge summaries identified 48%, birth hospital discharge summaries 27%, birth certificates 9% and death records 4% of these cases. Exact matches were found for 52% of 633 specific diagnoses. Postnatal hospital discharge summaries provided most matches. CONCLUSION State databases identified 60% of generic CHD and exactly matched about half of specific CHD diagnoses. The postnatal hospital discharge summaries performed best in both in identifying generic CHD and matching specific CHD diagnoses. Vital records had limited value in ascertaining CHD. Birth Defects Research (Part A) 67:597,603, 2003. © 2003 Wiley-Liss, Inc. [source] | |||||||||||||