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Sample records for cardiac congenital defects

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

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

    2014-09-15

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

  2. New Technologies for Surgery of the Congenital Cardiac Defect

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    David Kalfa

    2013-07-01

    Full Text Available The surgical repair of complex congenital heart defects frequently requires additional tissue in various forms, such as patches, conduits, and valves. These devices often require replacement over a patient’s lifetime because of degeneration, calcification, or lack of growth. The main new technologies in congenital cardiac surgery aim at, on the one hand, avoiding such reoperations and, on the other hand, improving long-term outcomes of devices used to repair or replace diseased structural malformations. These technologies are: 1 new patches: CorMatrix® patches made of decellularized porcine small intestinal submucosa extracellular matrix; 2 new devices: the Melody® valve (for percutaneous pulmonary valve implantation and tissue-engineered valved conduits (either decellularized scaffolds or polymeric scaffolds; and 3 new emerging fields, such as antenatal corrective cardiac surgery or robotically assisted congenital cardiac surgical procedures. These new technologies for structural malformation surgery are still in their infancy but certainly present great promise for the future. But the translation of these emerging technologies to routine health care and public health policy will also largely depend on economic considerations, value judgments, and political factors.

  3. Chlorination byproducts and nitrate in drinking water and risk for congenital cardiac defects.

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    Cedergren, Marie I; Selbing, Anders J; Löfman, Owe; Källen, Bengt A J

    2002-06-01

    Drinking water disinfection byproducts have been associated with an increased risk for congenital defects including cardiac defects. Using Swedish health registers linked to information on municipal drinking water composition, individual data on drinking water characteristics were obtained for 58,669 women. Among the infants born, 753 had a cardiac defect. The risk for a cardiac defect was determined for ground water versus surface water, for different chlorination procedures, and for trihalomethane and nitrate concentrations. Ground water was associated with an increased risk for cardiac defect when crude rates were analyzed but after suitable adjustments this excess rate was found to be determined by chlorination procedures including chlorine dioxide. Chlorine dioxide appears itself as an independent risk factor for cardiac defects (adjusted odds ratio 1.61 (95%CI 1.00-2.59)). The risk for cardiac defects increased with increasing trihalomethane concentrations (P=0.0005). There was an indicated but statistically nonsignificant excess risk associated with nitrate concentration. The individual risk for congenital cardiac defect caused by chlorine dioxide and trihalomethanes is small but as a large population is exposed to public drinking water, the attributable risk for cardiac defects may not be negligible.

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

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

    2015-06-01

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

  5. Ethanol exposure alters early cardiac function in the looping heart: a mechanism for congenital heart defects?

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    Karunamuni, Ganga; Gu, Shi; Doughman, Yong Qiu; Peterson, Lindsy M; Mai, Katherine; McHale, Quinn; Jenkins, Michael W; Linask, Kersti K; Rollins, Andrew M; Watanabe, Michiko

    2014-02-01

    Alcohol-induced congenital heart defects are frequently among the most life threatening and require surgical correction in newborns. The etiology of these defects, collectively known as fetal alcohol syndrome, has been the focus of much study, particularly involving cellular and molecular mechanisms. Few studies have addressed the influential role of altered cardiac function in early embryogenesis because of a lack of tools with the capability to assay tiny beating hearts. To overcome this gap in our understanding, we used optical coherence tomography (OCT), a nondestructive imaging modality capable of micrometer-scale resolution imaging, to rapidly and accurately map cardiovascular structure and hemodynamics in real time under physiological conditions. In this study, we exposed avian embryos to a single dose of alcohol/ethanol at gastrulation when the embryo is sensitive to the induction of birth defects. Late-stage hearts were analyzed using standard histological analysis with a focus on the atrio-ventricular valves. Early cardiac function was assayed using Doppler OCT, and structural analysis of the cardiac cushions was performed using OCT imaging. Our results indicated that ethanol-exposed embryos developed late-stage valvuloseptal defects. At early stages, they exhibited increased regurgitant flow and developed smaller atrio-ventricular cardiac cushions, compared with controls (uninjected and saline-injected embryos). The embryos also exhibited abnormal flexion/torsion of the body. Our evidence suggests that ethanol-induced alterations in early cardiac function have the potential to contribute to late-stage valve and septal defects, thus demonstrating that functional parameters may serve as early and sensitive gauges of cardiac normalcy and abnormalities.

  6. Coffin-Siris syndrome with the rarest constellation of congenital cardiac defects: A case report with review of literature

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    Lalita Nemani

    2014-01-01

    Full Text Available We report a case of type-A Coffin-Siris syndrome (CSS with a unique constellation of congenital heart defects. A 17-year-old Indian boy was referred to our hospital for central cyanosis with features of right heart failure. The cardiac abnormalities included biventricular outflow tract obstruction, small atrial septal defect (ASD, subaortic ventricular septal defect, drainage of left superior venacava to left atrial appendage, and aortic arch anomaly. Patient underwent successful right ventricular infundibular resection, subaortic membrane resection, closure of atrial and ventricular septal defect, rerouting left superior vena cava to left pulmonary artery and aortic valve replacement.

  7. Congenital platelet function defects

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    ... storage pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that ... function, even though there are normal platelet numbers. Most ...

  8. Adults with Congenital Heart Defects

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    ... Thromboembolism Aortic Aneurysm More Web Booklet: Adults With Congenital Heart Defects Updated:Apr 24,2014 From the Committee on ... below to learn more. Web Booklet: Adults With Congenital Heart Defects Introduction Introduction: Adults with Congenital Heart Defects Introduction: ...

  9. What Are Congenital Heart Defects?

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    ... page from the NHLBI on Twitter. What Are Congenital Heart Defects? Congenital (kon-JEN-ih-tal) heart defects are problems ... carry blood to the heart or the body Congenital heart defects change the normal flow of blood through the ...

  10. Genetic polymorphisms of the TYMS gene are not associated with congenital cardiac septal defects in a Han Chinese population.

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    Jian-Yuan Zhao

    Full Text Available BACKGROUND: Clinical research indicates that periconceptional administration of folic acid can reduce the occurrence of congenital cardiac septal defects (CCSDs. The vital roles of folate exhibits in three ways: the unique methyl donor for DNA expression regulation, the de novo biosynthesis of purine and pyrimidine for DNA construction, and the serum homocysteine removal. Thymidylate synthase (TYMS is the solo catalysis enzyme for the de novo synthesis of dTMP, which is the essential precursor of DNA biosynthesis and repair process. To examine the role of TYMS in Congenital Cardiac Septal Defects (CCSDs risk, we investigated whether genetic polymorphisms in the TYMS gene associated with the CCSDs in a Han Chinese population. METHOD: Polymorphisms in the noncoding region of TYMS were identified via direct sequencing in 32 unrelated individuals composed of half CCSDs and half control subjects. Nine SNPs and two insertion/deletion polymorphisms were genotyped from two independent case-control studies involving a total of 529 CCSDs patients and 876 healthy control participants. The associations were examined by both single polymorphism and haplotype tests using logistic regression. RESULT: We found that TYMS polymorphisms were not related to the altered CCSDs risk, and even to the changed risk of VSDs subgroup, when tested in both studied groups separately or in combination. In the haplotype analysis, there were no haplotypes significantly associated with risks for CCSDs either. CONCLUSION: Our results show no association between common genetic polymorphisms of the regulatory region of the TYMS gene and CCSDs in the Han Chinese population.

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

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    Goffinet François

    2011-10-01

    Full Text Available Abstract Background Classification of the overall spectrum of congenital heart defects (CHD has always been challenging, in part because of the diversity of the cardiac phenotypes, but also because of the oft-complex associations. The purpose of our study was to establish a comprehensive and easy-to-use classification of CHD for clinical and epidemiological studies based on the long list of the International Paediatric and Congenital Cardiac Code (IPCCC. Methods We coded each individual malformation using six-digit codes from the long list of IPCCC. We then regrouped all lesions into 10 categories and 23 subcategories according to a multi-dimensional approach encompassing anatomic, diagnostic and therapeutic criteria. This anatomic and clinical classification of congenital heart disease (ACC-CHD was then applied to data acquired from a population-based cohort of patients with CHD in France, made up of 2867 cases (82% live births, 1.8% stillbirths and 16.2% pregnancy terminations. Results The majority of cases (79.5% could be identified with a single IPCCC code. The category "Heterotaxy, including isomerism and mirror-imagery" was the only one that typically required more than one code for identification of cases. The two largest categories were "ventricular septal defects" (52% and "anomalies of the outflow tracts and arterial valves" (20% of cases. Conclusion Our proposed classification is not new, but rather a regrouping of the known spectrum of CHD into a manageable number of categories based on anatomic and clinical criteria. The classification is designed to use the code numbers of the long list of IPCCC but can accommodate ICD-10 codes. Its exhaustiveness, simplicity, and anatomic basis make it useful for clinical and epidemiologic studies, including those aimed at assessment of risk factors and outcomes.

  12. Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: an evaluation of 1,620 families.

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    Peyvandi, Shabnam; Ingall, Eitan; Woyciechowski, Stacy; Garbarini, Jennifer; Mitchell, Laura E; Goldmuntz, Elizabeth

    2014-06-01

    Current recurrence risk counseling for conotruncal cardiac defects (CTD) is based on empiric estimates from multiple studies. We examined the risk of congenital heart disease (CHD) in relatives of probands with CTDs to assist in counseling practices in the current era. One thousand six-twenty probands with CTDs and no reported chromosomal or genetic abnormalities were recruited sequentially. A three-generation pedigree was obtained for each proband by a genetic counselor detailing the presence and type of CHD in each family member. Risks and 95% confidence intervals (CI) were calculated for sub-groups of relatives based on degree of relationship for all probands and by individual lesion of the proband. For pairs of affected relatives, concordance rates were calculated. Severity of CHD in the affected relative was assessed. The risk of CHD was higher in siblings (4.4%, 95% CI 3.4-5.4) than in parents (1.5%, 95% CI 1.1-1.9). Risk varied by the cardiac lesion of the proband with the highest risk in first-degree relatives of probands with tetralogy of Fallot and the lowest in D-transposition of the great arteries. 39% of affected parents and 69% of affected siblings had a concordant lesion (i.e., CTD). Most affected siblings of probands with severe CTDs had complex defects (58%), whereas very few affected parents had complex defects (20%). These data suggest that recurrence risk varies by lesion and relationship, with substantial concordance observed by cardiac lesion and complexity of disease, particularly among siblings. These findings contribute to risk counseling in the current era.

  13. Congenital Abdominal Wall Defects

    DEFF Research Database (Denmark)

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

    2016-01-01

    complications were seen in five (15%) children: four had detachment of the mesh and one patient developed abdominal compartment syndrome. Mesh related clinical infection was observed in five children. In hospital mortality occurred in four cases (2 gastroschisis and 2 omphalocele) and was not procedure......OBJECTIVE: To evaluate the clinical utility of GORE® DUALMESH (GDM) in the staged closure of large congenital abdominal wall defects. MATERIALS AND METHODS: Data of patients with congenital abdominal wall defects managed with GDM was analyzed for outcome regarding complete fascial closure; mesh...

  14. Congenital Heart Defects (For Parents)

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    ... Old Feeding Your 1- to 2-Year-Old Congenital Heart Defects KidsHealth > For Parents > Congenital Heart Defects A A A What's in this article? How ... a Problem en español Anomalías cardíacas congénitas A congenital heart defect is a problem in the heart's structure that ...

  15. Congenital cardiac anomalies in an English bulldog.

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    McConkey, Marina J

    2011-11-01

    A 4-year-old male castrated English bulldog was referred to the Atlantic Veterinary College for evaluation of exercise intolerance, multiple syncopal episodes, and a grade IV/VI heart murmur. The dog was shown to have 3 congenital cardiac anomalies: atrial septal defect, mitral valve dysplasia, and subaortic stenosis. Medical management consisted of exercise restriction, atenolol, pimobendan, and taurine.

  16. Dermatoglyphic’s in Congenital Cardiac Disease

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    Singh Brijendra

    2016-03-01

    Full Text Available Various dermatoglyphic parameters like finger print pattern, atd angle, absolute ridge count & ab, bc ,cd, and ad ridge counts were observed in 150 cases of congenital cardiac disease, comprising of 72 cases of Ventricular Septal Defects (VSD, 60 cases of Atrial Septal Defects (ASD, 9 cases of Coarctation of Aorta (COA & 9 cases of Tetralogy of Fallot’s (TOF. Same dermatoglyphic parameters were also studied in 300 controls and statistical comparison of cases and controls was done. In our study it was observed that the congenital cardiac disease cases exhibited preponderance of whorls (55.8% with decrease in loop pattern (36.2% as compared to those of controls and the difference was highly significant (P<0.001. The difference in the mean total finger ridge count (TFRC of the controls and of the cases of Congenital Cardiac Diseases (CCD was found to be highly significant (P<0.001, while the  mean atd angle in the cases of Congenital Cardiac Disease (CCD was widen up and was statistically significant too. The mean ab, the mean bc ridge, the mean cd ridge and the mean ad ridge counts were also higher in the various type of CCD as compared to that controls and on statistical comparison, the difference was found to be highly significant.

  17. A Novel Alpha Cardiac Actin (ACTC1) Mutation Mapping to a Domain in Close Contact with Myosin Heavy Chain Leads to a Variety of Congenital Heart Defects, Arrhythmia and Possibly Midline Defects

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    Augière, Céline; Mégy, Simon; El Malti, Rajae; Boland, Anne; El Zein, Loubna; Verrier, Bernard; Mégarbané, André; Deleuze, Jean-François; Bouvagnet, Patrice

    2015-01-01

    Background A Lebanese Maronite family presented with 13 relatives affected by various congenital heart defects (mainly atrial septal defects), conduction tissue anomalies and midline defects. No mutations were found in GATA4 and NKX2-5. Methods and Results A set of 399 poly(AC) markers was used to perform a linkage analysis which peaked at a 2.98 lod score on the long arm of chromosome 15. The haplotype analysis delineated a 7.7 meganucleotides genomic interval which included the alpha-cardiac actin gene (ACTC1) among 36 other protein coding genes. A heterozygous missense mutation was found (c.251T>C, p.(Met84Thr)) in the ACTC1 gene which changed a methionine residue conserved up to yeast. This mutation was absent from 1000 genomes and exome variant server database but segregated perfectly in this family with the affection status. This mutation and 2 other ACTC1 mutations (p.(Glu101Lys) and p.(Met125Val)) which result also in congenital heart defects are located in a region in close apposition to a myosin heavy chain head region by contrast to 3 other alpha-cardiac actin mutations (p.(Ala297Ser),p.(Asp313His) and p.(Arg314His)) which result in diverse cardiomyopathies and are located in a totally different interaction surface. Conclusions Alpha-cardiac actin mutations lead to congenital heart defects, cardiomyopathies and eventually midline defects. The consequence of an ACTC1 mutation may in part be dependent on the interaction surface between actin and myosin. PMID:26061005

  18. Congenital heart defects and medical imaging.

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    Gehin, Connie; Ragsdale, Lisa

    2013-01-01

    Radiologic technologists perform imaging studies that are useful in the diagnosis of congenital heart defects in infants and adults. These studies also help to monitor congenital heart defect repairs in adults. This article describes the development and functional anatomy of the heart, along with the epidemiology and anatomy of congenital heart defects. It also discusses the increasing population of adults who have congenital heart defects and the most effective modalities for diagnosing, evaluating, and monitoring congenital heart defects.

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

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

    2016-01-01

    Study Design Retrospective study. Purpose To identify the incidence of congenital cardiac abnormalities in patients who had scoliosis and underwent surgical treatment for scoliosis. Overview of Literature Congenital and idiopathic scoliosis (IS) are associated with cardiac abnormalities. We sought to establish and compare the incidence of congenital cardiac abnormalities in patients with idiopathic and congenital scoliosis (CS) who underwent surgical treatment for scoliosis. Methods Ninety consecutive scoliosis patients, who underwent surgical correction of scoliosis, were classified as CS (55 patients, 28 female [51%]) and IS (35 patients, 21 female [60%]). The complete data of the patients, including medical records, plain radiograph and transthoracic echocardiography were retrospectively assessed. Results We found that mitral valve prolapse was the most common cardiac abnormality in both patients with IS (nine patients, 26%) and CS (13 patients, 24%). Other congenital cardiac abnormalities were atrial septal aneurysm (23% of IS patients, 18% of CS patients), pulmonary insufficiency (20% of IS patients, 4% of CS patients), aortic insufficiency (17% of IS patients), atrial septal defect (11% of IS patients, 13% of CS patients), patent foramen ovale (15% of CS patients), dextrocardia (4% of CS patients), bicuspid aortic valve (3% of IS patients), aortic stenosis (2% of CS patients), ventricular septal defect (2% of CS patients), and cardiomyopathy (2% of CS patients). Conclusions We determined the increased incidence of congenital cardiac abnormalities among patients with congenital and IS. Mitral valve prolapse appeared to be the most prevalent congenital cardiac abnormality in both groups. PMID:27114761

  20. High Prevalence of Associated Birth Defects in Congenital Hypothyroidism

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    Alok Sachan

    2010-01-01

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

  1. Five Facts about Congenital Heart Defects

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    ... Button Past Emails CDC Features Five Facts about Congenital Heart Defects Language: English Español (Spanish) Recommend on Facebook Tweet Share Compartir Congenital heart defects are the most common types of birth defects. ...

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

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

    2011-02-15

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

  3. Congenital heart defects in children with oral clefts

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    Nahvi H.

    2007-09-01

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

  4. Signs and Symptoms of Congenital Heart Defects

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    ... Twitter. What Are the Signs and Symptoms of Congenital Heart Defects? Many congenital heart defects cause few or no signs and symptoms. A ... lips, and fingernails) Fatigue (tiredness) Poor blood circulation Congenital heart defects don't cause chest pain or other painful ...

  5. Care and Treatment for Congenital Heart Defects

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    ... Thromboembolism Aortic Aneurysm More Care and Treatment for Congenital Heart Defects Updated:Oct 26,2015 Not all people with ... supports you in your pursuit of heart health. Congenital Heart Defects • Home • About Congenital Heart Defects • The Impact of ...

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

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    Mitchell, Katharyn Jean; Schwarzwald, Colin Claudio

    2016-03-01

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

  7. Genetic Counseling for Congenital Heart Defects

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    ... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Oct 26,2015 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...

  8. The peripheral cannulation technique in minimally invasive congenital cardiac surgery.

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    Vida, Vladimiro L; Tessari, Chiara; Putzu, Alessandro; Tiberio, Ivo; Guariento, Alvise; Gallo, Michele; Stellin, Giovanni

    2016-08-19

    Congenital minimally invasive cardiac surgery has gained wide acceptance thanks to its favorable outcomes. The introduction of peripheral cannulation for cardiopulmonary bypass further reduces surgical trauma by decreasing surgical access and allowing the spectrum of surgical access for the correction of simple congenital heart defects to be widened. Right internal jugular vein percutaneous cannulation, together with the direct surgical cannulation of femoral vessels, proves to be a safe and effective tool in patients with body weight above 15 kg.

  9. Connecting teratogen-induced congenital heart defects to neural crest cells and their effect on cardiac function.

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

    2014-09-01

    Neural crest cells play many key roles in embryonic development, as demonstrated by the abnormalities that result from their specific absence or dysfunction. Unfortunately, these key cells are particularly sensitive to abnormalities in various intrinsic and extrinsic factors, such as genetic deletions or ethanol-exposure that lead to morbidity and mortality for organisms. This review discusses the role identified for a segment of neural crest in regulating the morphogenesis of the heart and associated great vessels. The paradox is that their derivatives constitute a small proportion of cells to the cardiovascular system. Findings supporting that these cells impact early cardiac function raises the interesting possibility that they indirectly control cardiovascular development at least partially through regulating function. Making connections between insults to the neural crest, cardiac function, and morphogenesis is more approachable with technological advances. Expanding our understanding of early functional consequences could be useful in improving diagnosis and testing therapies.

  10. Identification and Functional Characterization of a Novel CACNA1C-Mediated Cardiac Disorder Characterized by Prolonged QT Intervals with Hypertrophic Cardiomyopathy, Congenital Heart Defects, and Sudden Cardiac Death

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    Boczek, Nicole J.; Ye, Dan; Jin, Fang; Tester, David J.; Huseby, April; Bos, J. Martijn; Johnson, Aaron J.; Kanter, Ronald; Ackerman, Michael J.

    2016-01-01

    Background A portion of sudden cardiac deaths (SCD) can be attributed to structural heart diseases such as hypertrophic cardiomyopathy (HCM) or cardiac channelopathies such as long QT syndrome (LQTS); however, the underlying molecular mechanisms are quite distinct. Here, we identify a novel CACNA1C missense mutation with mixed loss-of-function/gain-of-function responsible for a complex phenotype of LQTS, HCM, SCD, and congenital heart defects (CHDs). Methods and Results Whole exome sequencing (WES) in combination with Ingenuity Variant Analysis was completed on three affected individuals and one unaffected individual from a large pedigree with concomitant LQTS, HCM, and CHDs and identified a novel CACNA1C mutation, p.Arg518Cys, as the most likely candidate mutation. Mutational analysis of exon 12 of CACNA1C was completed on 5 additional patients with a similar phenotype of LQTS plus a personal or family history of HCM-like phenotypes, and identified two additional pedigrees with mutations at the same position, p.Arg518Cys/His. Whole cell patch clamp technique was used to assess the electrophysiological effects of the identified mutations in CaV1.2, and revealed a complex phenotype, including loss of current density and inactivation in combination with increased window and late current. Conclusions Through WES and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and CHDs annotated as cardiac-only Timothy syndrome. Our electrophysiological studies, identification of mutations at the same amino acid position in multiple pedigrees, and co-segregation with disease in these pedigrees provides evidence that p.Arg518Cys/His is the pathogenic substrate for the observed phenotype. PMID:26253506

  11. Haploinsufficiency of TAB2 causes congenital heart defects in humans

    DEFF Research Database (Denmark)

    Thienpont, Bernard; Zhang, Litu; Postma, Alex V;

    2010-01-01

    Congenital heart defects (CHDs) are the most common major developmental anomalies and the most frequent cause for perinatal mortality, but their etiology remains often obscure. We identified a locus for CHDs on 6q24-q25. Genotype-phenotype correlations in 12 patients carrying a chromosomal deletion...... in cardiac development was further supported by its conserved expression in the developing human and zebrafish heart. Moreover, a critical, dosage-sensitive role during development was demonstrated by the cardiac defects observed upon titrated knockdown of tab2 expression in zebrafish embryos...

  12. Multiple congenital defects in a newborn foal

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    J.F. Silva

    2014-12-01

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

  13. Congenital Heart Defects and Physical Activity

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

  14. Air pollution and congenital heart defects.

    Science.gov (United States)

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

    2013-07-01

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

  15. Diagnosis and treatment of congenital heart defects

    Energy Technology Data Exchange (ETDEWEB)

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

    2004-07-01

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

  16. Congenital heart defects in oculodentodigital dysplasia: Report of two cases.

    Science.gov (United States)

    Izumi, Kosuke; Lippa, Andrew M; Wilkens, Alisha; Feret, Holly A; McDonald-McGinn, Donna M; Zackai, Elaine H

    2013-12-01

    Oculodentodigital dysplasia is caused by mutations in the GJA1 gene. Oculodentodigital dysplasia presents with a spectrum of clinical features including craniofacial, ocular, dental, and limb anomalies. Although recent findings implicate the major role of GJA1 during cardiac organogenesis, congenital heart defects are infrequently reported in oculodentodigital dysplasia. Here we report on two patients with GJA1 mutations presenting with cardiac malformations and type III syndactyly. Patient 1 presented with pulmonary atresia, an intact septum, right ventricular hypoplasia and tricuspid stenosis. The infant had a small nose, thin columella and bilateral 4-5 syndactyly of the fingers. A de novo c.226C>T (p.Arg76Cys) mutation was identified. Patient 2 presented at 6 months with a ventricular septal defect. The child had hypoplastic alae nasi with a thin columella and bilateral 4-5 syndactyly of the digits. A de novo missense mutation, c.145C>G (p.Gln49Glu) was found. Our two patients underscore the importance of cardiac evaluations as part of the initial workup for patients with findings of oculodentodigital dysplasia. Conversely, those patients with type III syndactyly and congenital heart defect should be screened for GJA1 mutations.

  17. Familial TAB2 microdeletion and congenital heart defects including unusual valve dysplasia and tetralogy of fallot.

    Science.gov (United States)

    Weiss, Karin; Applegate, Carolyn; Wang, Tao; Batista, Denise A S

    2015-11-01

    Haploinsufficiency of TAB2 was recently implicated as a cause for a variety of congenital heart defects. Reported cases have genomic deletions of 2-10 Mbs including TAB2 at 6q24-25 are almost always de novo and show variable cardiac and extra cardiac phenotype. We report on an inherited, 281 kb deletion in a three generation family. This is the smallest reported deletion involving TAB2 that segregates with congenital heart defects. Three affected individuals in this family present with myxomatous cardiac valves in addition to structural heart defects commonly associated with TAB2 deletions. Findings from this family support a key role of TAB2 haploinsufficiency in congenital heart defects and expand the phenotypic spectrum of TAB2-microdeletion syndrome.

  18. Congenital heart defect - corrective surgery

    Science.gov (United States)

    ... Hypoplastic left heart repair; Tetralogy of Fallot repair; Coarctation of the aorta repair; Atrial septal defect repair; ... done in the neonatal intensive care unit (NICU). Coarctation of the aorta repair: Coarctation of the aorta ...

  19. Types of Congenital Heart Defects

    Science.gov (United States)

    ... Doctors use open-heart surgery to repair VSDs. Patent Ductus Arteriosus Patent ductus arteriosus (PDA) is a fairly common heart defect that ... ductus arteriosus closes. In some babies, however, the ductus arteriosus remains open (patent). The opening allows oxygen-rich blood from the ...

  20. Cardiac biomarkers in children with congenital heart disease

    Institute of Scientific and Technical Information of China (English)

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

    2015-01-01

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

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

    Science.gov (United States)

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

    2016-03-01

    The role of hemodynamics in early heart development is poorly understood. In order to successfully assess the impact of hemodynamics on development, we need to monitor and perturb blood flow, and quantify the resultant effects on morphology. Here, we have utilized cardiac optical pacing to create regurgitant flow in embryonic hearts and OCT to quantify regurgitation percentage and resultant morphology. Embryonic quail in a shell-less culture were optically paced at 3 Hz (well above the intrinsic rate or 1.33-1.67 Hz) on day 2 of development (3-4 weeks human) for 5 minutes. The pacing fatigued the heart and led to a prolonged period (> 1 hour) of increased regurgitant flow. Embryos were kept alive until day 3 (cardiac looping - 4-5 weeks human) or day 8 (4 chambered heart - 8 weeks human) to quantify resultant morphologic changes with OCT. All paced embryos imaged at day 3 displayed cardiac defects. The extent of regurgitant flow immediately after pacing was correlated with cardiac cushion size 24-hours post pacing (p-value congenital heart defects (CHDs) including 11/18 with valve defects, 5/18 with ventricular septal defects and 5/18 with hypoplastic right ventricles. Our data suggests that regurgitant flow leads to smaller cushions, which develop into abnormal valves and septa. Our model produces similar phenotypes as found in our fetal alcohol syndrome and velo-cardio-facial/DiGeorge syndrome models suggesting that hemodynamics plays a role in these syndromes as well. Utilizing OCT and optical pacing to understand hemodynamics in development is an important step towards determining CHD mechanisms and ultimately developing earlier treatments.

  2. Treacher Collins syndrome with multiple congenital heart defects after paroxetine exposure: case report.

    Science.gov (United States)

    Dinlen, N; Zenciroğlu, A; Dilli, D; Aydin, B; Beken, S; Okumuş, N

    2014-01-01

    Treacher Collins syndrome is an autosomal dominant disorder of craniofacial development with an incidence of I in 40,000 to in 70,000 live births. It is characterized by abnormalities of the pinnae which are frequently associated with atresia of the external auditory canals and anomalies of the middle ear ossicles. Rarely congenital heart defects can be present. Prenatal paroxetine exposure may enhance the risks of major malformation, particularly cardiac defects. This article reports a newborn, whose mother used paroxetine during pregnancy, presenting with multiple congenital heart defects associated to typical physical characteristics of Treacher Collins syndrome.

  3. Associated noncardiac congenital anomalies among cases with congenital heart defects.

    Science.gov (United States)

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

    2015-02-01

    Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD.

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

    Science.gov (United States)

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

    2015-07-01

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

  5. Cancer risk among patients with congenital heart defects

    DEFF Research Database (Denmark)

    Olsen, Morten; Garne, Ester; Sværke, Claus

    2013-01-01

    -based interventions, the standardised incidence ratio was 1.45 (95% confidence interval: 0.86-2.29). Conclusion The overall risk of cancer among congenital heart defect patients without Down's syndrome was not statistically significantly elevated. Cancer risk in the congenital heart defect cohort as a whole...

  6. Fetal extracardiac anomalies associated with congenital cardiac diseases

    Energy Technology Data Exchange (ETDEWEB)

    Yi, Bum Ha; Cho, Jung Yeon; Lee, Young Ho; Song, Mi Jin [Samsung Cheil Hospital, Sungkyunkwan University School of Medicine, Seoul (Korea, Republic of)

    2004-06-15

    To evaluate the incidence of associated extracardiac anomalies in fetuses with congenital heart defects on fetal echocardiography, and to estimate the incidence of chromosomal abnormalities according to the extracardiac anomalies. From Jan. 1999 to Dec. 2001, 101 fetuses with prenatally diagnosed extracardiac anomalies and congenital cardiac diseases were selected for study. The mean gestational age at the time of the ultrasound exam was about 25 weeks. Associated extracardiac anomalies were classified into CNS, face and neck, thorax, abdomen, genitourinary system, musculoskeletal, other and multi-systemic anomalies groups. Chromosomal studies including chorionic villi sampling, amniocentesis, cordocentesis, and postnatal exam were correlated. Musculoskeletal anomalies were the most commonly associated extracardiac anomalies (n=28, 27.7%). Abdominal anomaly (n=26, 25.7%), central nervous system anomaly (n=25, 24.8%), genitourinary anomaly(n=12, 11.9%), thoracic anomaly (n=4, 4%), face and neck anomaly (n=3, 3%) were found. Twenty eight fetuses showed other anomalies (n=28, 27.7%). Multi-systemic anomalies were also common (n=20, 19.8%). Fetal anomalies involving two systems were noted in 15 fetuses, and anomalies of more than three systems were not uncommon (5 fetuses). Chromosomal study of 38 fetuses revealed 19 fetuses with abnormal karyotypes (50%). For 19 fetuses with abnormal karyotypes, central nervous system anomalies and musculoskeletal anomalies were the most frequently associated with extracardiac abnormalities (n=9). Multi-systemic anomalies were associated in 9 of the 19 fetuses. In fetuses with cardiac defects, the musculoskeletal, abdomen and CNS anomalies were commonly associated with extracardiac anomalies. Various extracardiac anomalies such as, head and neck anomalies, CNS anomalies, musculoskeletal anomalies, and multi-organ anomalies were highly correlated with chromosomal abnormalities, and so this relationship requires chromosomal study.

  7. Cardiac Hemodynamics in the Pathogenesis of Congenital Heart Disease and Aortic Valve Calcification

    Science.gov (United States)

    Nigam, Vishal

    2011-11-01

    An improved understanding of the roles of hemodynamic forces play in cardiac development and the pathogenesis of cardiac disease will have significant scientific and clinical impact. I will focus on the role of fluid dynamics in congenital heart disease and aortic valve calcification. Congenital heart defects are the most common form of birth defect. Aortic valve calcification/stenosis is the third leading cause of adult heart disease and the most common form of acquired valvular disease in developed countries. Given the high incidence of these diseases and their associated morbidity and mortality, the potential translational impact of an improved understanding of cardiac hemodynamic forces is very large. Division of Pediatric Cardiology, Rady Children's Hospital, San Diego

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

    NARCIS (Netherlands)

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

    2015-01-01

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

  9. Application of robotics in congenital cardiac surgery.

    Science.gov (United States)

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

    2003-01-01

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

  10. Postoperative cardiac arrest in children with congenital heart abnormalities

    OpenAIRE

    2013-01-01

    BACKGROUND The exact survival rates and markers of survival after postoperative cardiac arrest in children with congenital heart abnormalities are unknown. METHODS In this one-year study, we identified children younger than seven years of age with postoperative cardiac arrest in our pediatric cardiac intensive care unit database. Parameters from perioperative, pre-arrest, and resuscitation periods were analyzed for these patients. Comparisons were made between survivors and non-survivors afte...

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

    DEFF Research Database (Denmark)

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

    2011-01-01

    Background: Congenital heart defect patients may experience neurodevelopmental impairment. We investigated their educational attainments from basic schooling to higher education. Patients and methods: Using administrative databases, we identified all Danish patients with a cardiac defect diagnosis...... of educational attainment was reduced among long-term congenital heart defect survivors....... and controls born at term and without extracardiac defects or chromosomal anomalies. Results: We identified 2986 patients. Their probability of completing compulsory basic schooling was approximately 10% lower than that of control individuals (adjusted hazard ratio=0.79, ranged from 0.75 to 0.82 0.79; 95...

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

    Directory of Open Access Journals (Sweden)

    Vivian Vázquez Martínez

    2008-04-01

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

  13. Aspects of surgery for congenital ventricular septal defect

    NARCIS (Netherlands)

    G. Bol-Raap (Goris)

    2007-01-01

    textabstractIn chapter 1, an outline of the thesis is given. This thesis focuses on aspects of surgical closure of a congenital ventricular septal defect. In Chapter 2, the accuracy and the potential of 3-D echocardiography in the preoperative assessment of a congenital VSD were evaluated. 3-D ech

  14. Cardiac CT angiography in children with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Siripornpitak, Suvipaporn, E-mail: ssiripornpitak@yahoo.com [Division of Diagnostic Radiology, Department of Diagnostic and Therapeutic Radiology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Pornkul, Ratanaporn [Division of Diagnostic Radiology, Department of Diagnostic and Therapeutic Radiology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Khowsathit, Pongsak [Pediatric Cardiac Unit, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Layangool, Thanarat; Promphan, Worakan [Pediatric Cardiology Unit, Queen Sirikit National Institute of Child Health, Bangkok (Thailand); Pongpanich, Boonchob [Pediatric Cardiac Unit, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand)

    2013-07-15

    Cardiac imaging plays an important role in both congenital and acquired heart diseases. Cardiac computed tomography (angiography) cCT(A) is a non-invasive, increasingly popular, complementary modality to echocardiography in evaluation of congenital heart diseases (CHD) in children. Despite radiation exposure, cCT(A) is now commonly used for evaluation of the complex CHD, giving information of both intra-cardiac and extra-cardiac anatomy, coronary arteries, and vascular structures. This review article will focus on the fundamentals and essentials for performing cCT(A) in children, including radiation dose awareness, basic techniques, and strengths and weaknesses of cCT(A) compared with cardiac magnetic resonance imaging (cMRI), and applications. The limitations of this modality will also be discussed, including the CHD for which cMRI may be substituted.

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

    Directory of Open Access Journals (Sweden)

    Ineke Nederend

    2016-04-01

    Full Text Available Congenital heart disease is the most common congenital defect. During childhood, survival is generally good but, in adulthood, late complications are not uncommon. Abnormal autonomic control in children with congenital heart disease may contribute considerably to the pathophysiology of these long term sequelae. This narrative review of 34 studies aims to summarize current knowledge on function of the autonomic nervous system in children with a congenital heart defect. Large scale studies that measure both branches of the nervous system for prolonged periods of time in well-defined patient cohorts in various phases of childhood and adolescence are currently lacking. Pending such studies, there is not yet a good grasp on the extent and direction of sympathetic and parasympathetic autonomic function in pediatric congenital heart disease. Longitudinal studies in homogenous patient groups linking autonomic nervous system function and clinical outcome are warranted.

  16. Genetic counseling for young adults who have a congenital heart defect.

    Science.gov (United States)

    Whittemore, R

    1986-01-01

    Early individual guidance is needed for all adolescents and young adults with congenital heart defects. This should include not only a personal interest in the individual but also an attempt to identify concerns about sex education, smoking, drugs and the risks of pregnancy and possible inheritance. In a prospective study of 252 women with various cardiac malformations, the incidence of congenital heart defects in their progeny was 15.7% (13% exclusive of genetic syndromes and those with a positive family history). In those with a positive family history or a genetic syndrome the incidence was 56% in the offspring. Genetic syndromes with cardiac components are increasingly apparent. The role of teratogens such as medications, illicit drugs, and environmental exposure play a not yet clearly defined role. Careful discussion with potential parents, giving facts but with a positive approach, is an obligation of every physician.

  17. Cardiac transplantation for pediatric patients. With inoperable congenital heart disease.

    OpenAIRE

    Shaffer, K M; Denfield, S W; Schowengerdt, K O; Towbin, J A; Radovancević, B; Frazier, O. H.; Price, J K; Gajarski, R J

    1998-01-01

    Recent studies have reported the expanding use of transplantation as the definitive option for pediatric patients with inoperable congenital heart disease. This study compares perioperative risk factors and outcomes in pediatric patients who received heart transplants for congenital heart disease with those in pediatric patients who received heart transplants for cardiomyopathy. Retrospective data collected on 40 consecutive pediatric patients undergoing cardiac transplantation from 1 January...

  18. Thoracic skeletal defects and cardiac malformations: a common epigenetic link?

    Science.gov (United States)

    Weston, Andrea D; Ozolins, Terence R S; Brown, Nigel A

    2006-12-01

    Congenital heart defects (CHDs) are the most common birth defects in humans. In addition, cardiac malformations represent the most frequently identified anomaly in teratogenicity experiments with laboratory animals. To explore the mechanisms of these drug-induced defects, we developed a model in which pregnant rats are treated with dimethadione, resulting in a high incidence of heart malformations. Interestingly, these heart defects were accompanied by thoracic skeletal malformations (cleft sternum, fused ribs, extra or missing ribs, and/or wavy ribs), which are characteristic of anterior-posterior (A/P) homeotic transformations and/or disruptions at one or more stages in somite development. A review of other teratogenicity studies suggests that the co-occurrence of these two disparate malformations is not unique to dimethadione, rather it may be a more general phenomenon caused by various structurally unrelated agents. The coexistence of cardiac and thoracic skeletal malformations has also presented clinically, suggesting a mechanistic link between cardiogenesis and skeletal development. Evidence from genetically modified mice reveals that several genes are common to heart development and to formation of the axial skeleton. Some of these genes are important in regulating chromatin architecture, while others are tightly controlled by chromatin-modifying proteins. This review focuses on the role of these epigenetic factors in development of the heart and axial skeleton, and examines the hypothesis that posttranslational modifications of core histones may be altered by some developmental toxicants.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-01-01

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

  20. Evaluation of swallowing in infants with congenital heart defect.

    Science.gov (United States)

    Pereira, Karine da Rosa; Firpo, Cora; Gasparin, Marisa; Teixeira, Adriane Ribeiro; Dornelles, Silvia; Bacaltchuk, Tzvi; Levy, Deborah Salle

    2015-01-01

    Introduction Surgical repair of congenital heart disease in the first years of life compromises the coordination of the suction, breathing, and swallowing functions. Objective To describe the alterations in swallowing found in infants with congenital heart defect during their hospitalization. Methods Prospective, cross-sectional study in a reference hospital for heart disease. The sample consisted of 19 postsurgical patients who underwent an evaluation of swallowing. The infants included were younger than 7 months and had a diagnosis of congenital heart defect and suspected swallowing difficulties. Results Of the 19 infants with congenital heart defect, the median age was 3.2 months. A significant association was found between suction rhythm and dysphagia (p = 0.036) and between oral-motor oral feeding readiness and dysphagia (p = 0.014). Conclusions The data suggest that dysphagia often occurs after surgery in infants with congenital heart defect. Infants with congenital heart defect had very similar behavior to preterm infants in terms of oral feeding readiness.

  1. Evaluation of Swallowing in Infants with Congenital Heart Defect

    Directory of Open Access Journals (Sweden)

    Pereira, Karine da Rosa

    2014-11-01

    Full Text Available Introduction Surgical repair of congenital heart disease in the first years of life compromises the coordination of the suction, breathing, and swallowing functions. Objective To describe the alterations in swallowing found in infants with congenital heart defect during their hospitalization. Methods Prospective, cross-sectional study in a reference hospital for heart disease. The sample consisted of 19 postsurgical patients who underwent an evaluation of swallowing. The infants included were younger than 7 months and had a diagnosis of congenital heart defect and suspected swallowing difficulties. Results Of the 19 infants with congenital heart defect, the median age was 3.2 months. A significant association was found between suction rhythm and dysphagia (p = 0.036 and between oral-motor oral feeding readiness and dysphagia (p = 0.014. Conclusions The data suggest that dysphagia often occurs after surgery in infants with congenital heart defect. Infants with congenital heart defect had very similar behavior to preterm infants in terms of oral feeding readiness.

  2. Maternal diabetes induces congenital heart defects in mice by altering the expression of genes involved in cardiovascular development

    Directory of Open Access Journals (Sweden)

    Tay Samuel

    2007-10-01

    Full Text Available Abstract Background Congenital heart defects are frequently observed in infants of diabetic mothers, but the molecular basis of the defects remains obscure. Thus, the present study was performed to gain some insights into the molecular pathogenesis of maternal diabetes-induced congenital heart defects in mice. Methods and results We analyzed the morphological changes, the expression pattern of some genes, the proliferation index and apoptosis in developing heart of embryos at E13.5 from streptozotocin-induced diabetic mice. Morphological analysis has shown the persistent truncus arteriosus combined with a ventricular septal defect in embryos of diabetic mice. Several other defects including defective endocardial cushion (EC and aberrant myofibrillogenesis have also been found. Cardiac neural crest defects in experimental embryos were analyzed and validated by the protein expression of NCAM and PGP 9.5. In addition, the protein expression of Bmp4, Msx1 and Pax3 involved in the development of cardiac neural crest was found to be reduced in the defective hearts. The mRNA expression of Bmp4, Msx1 and Pax3 was significantly down-regulated (p p p Conclusion It is suggested that the down-regulation of genes involved in development of cardiac neural crest could contribute to the pathogenesis of maternal diabetes-induced congenital heart defects.

  3. Intrauterine Tobacco Smoke Exposure and Congenital Heart Defects.

    Science.gov (United States)

    Forest, Sharron; Priest, Sandra

    2016-01-01

    Tobacco use and second-hand smoke exposure during pregnancy are linked to a host of deleterious effects on the pregnancy, fetus, and infant. Health outcomes improve when women quit smoking at any time during the pregnancy. However, the developing heart is vulnerable to noxious stimuli in the early weeks of fetal development, a time when many women are not aware of being pregnant. Congenital heart defects are the most common birth defects. Research shows an association between maternal tobacco exposure, both active and passive, and congenital heart defects. This article presents recent evidence supporting the association between intrauterine cigarette smoke exposure in the periconceptional period and congenital heart defects and discusses clinical implications for practice for perinatal and neonatal nurses.

  4. Risk Factors for post-Cardiac Surgery Diaphragmatic Paralysis in Children with Congenital Heart Disease

    Directory of Open Access Journals (Sweden)

    Parvin Akbariasbagh

    2015-12-01

    Full Text Available Background: Injured phrenic nerve secondary to cardiac surgeries is the most common cause of diaphragmatic paralysis (DP in infants. The aim of this study was to determine the risk factors for DP caused by congenital heart defect corrective surgeries in pediatrics.Methods: This cross-sectional study, conducted in a 2-year period (2006–2008, included 451 children with congenital heart diseases admitted to the Pediatric Cardiac Surgery Ward of Imam Khomeini Hospital. The diaphragmatic function was examined via fluoroscopy, and the frequency of DP and its relevant parameters were evaluated.Results: Of the 451 patients, comprising 268 males and 183 females at an age range of 3 days to 204 months (28.2 ± 33.4 months, 25 (5.5% infants (60% male and 40% female, age range = 15 days to 132 months, 41.2 ± 28.1 months had DP as follows: 48% unilateral right-sided and 36% unilateral left-sided. Additionally, 68% had cyanotic congenital heart disease and 84% had DP following total correction surgery.  The highest prevalence rates of DP resulting in phrenic hemiparesis were observed after arterial switch operation, Fontan procedure, and Blalock–Taussig shunt surgery, respectively. Thirteen (52% of the 25 DP patients underwent surgical diaphragmatic plication because of severe respiratory distress and dependency on mechanical ventilation, and most of the cases of plication underwent arterial switch operation. The rate of mortality was 24% (6 patients.Conclusion: DP with a prevalence of 5.5% was one of the most common complications secondary to cardiac surgeries in the infants included in the present study. Effective factors were age, weight, cyanotic congenital heart defects, and previous cardiac surgery. Diaphragmatic plication improved prognosis in severe cases.

  5. Neurological status of children with congenital heart defects.

    Science.gov (United States)

    Islam, M T; Hussain, M Z; Bhuiyan, M R; Roy, G R; Barua, C; Kabir, A

    2014-07-01

    Congenital heart defect (CHD) is the most common birth defect & a significant cause of childhood morbidity & mortality. Structural brain abnormalities are more common in children with CHD than general population. This study details the cognitive, motor and behavioral development of a child with congenital heart disease who is on medical management. In this retrospective descriptive study, abnormalities in neurobehavioral status of infant & children (6-42 months of age) with CHD, who are on medical management were assessed by a standardized neurobehavioral assessment test, BSID-II. Fifty-eight children were included, who were diagnosed as a case of congenital heart disease & confirmed by Colour Doppler echocardiography in the Paediatric Cardiology Department of Bangabandhu Sheikh Mujib Medical University, Bangladesh. Mean age of the children was 23±13 months (range, 6 to 42 months); M:F = 1:1.9. Among them 22(37.9%) had cyanotic and 36(62.1%) had acyanotic congenital heart disease. Neurobehavioral and neurologic abnormalities were documented in a significant number of children. BSID-II showed 23(39.7%) had delayed metal development, 24(41.4%) had motor impairment and 16(27.6%) had non-optimal behavioral performance. Interestingly, infant and young children with acyanotic congenital heart defects were more likely to demonstrate severe neurologic compromise than were those with cyanotic defects. Findings of this study suggest that the prevalence of neurobehavioral abnormalities in infants and young children with congenital heart defects has been under predicted & indicates that delay in closure (surgery/device) puts the patient at an increased risk of neuro-developmental insult.

  6. Congenital scalp defects and vitreoretinal degeneration: redefining the Knobloch syndrome.

    Science.gov (United States)

    Seaver, L H; Joffe, L; Spark, R P; Smith, B L; Hoyme, H E

    1993-04-15

    An apparently autosomal recessive syndrome of hereditary vitreoretinal degeneration (VRD) with retinal detachment, high myopia, and congenital encephalocele was described in 1971 by Knobloch and Layer [J Pediatr Ophthalmol 8:181-184]. Clinical confirmation of the presence of encephaloceles was lacking, and no neuropathologic studies were reported. We have evaluated a similarly affected family with 2 sibs with high myopia, VRD, and occipital scalp defects. Histologic examination of the scalp defects showed heterotopic neuronal tissue in both instances. The older girl has had a unilateral retinal detachment. Her other eye and both eyes of the younger sib have so far been treated successfully with prophylactic retinal cryotherapy. Both children have normal to above normal intelligence. The family reported by Knobloch and Layer [1971] and the sibship herein described appear to represent a distinct autosomal recessive trait. Analysis of the associated defects suggests an underlying defect in early cephalic neuroectodermal morphogenesis. Data from these families imply that congenital occipital scalp defects rather than true encephaloceles may, as is true in some cases of Meckel syndrome, accompany Knobloch syndrome. The presence of a congenital midline scalp defect should alert the clinician to possible underlying central nervous system and/or ocular pathology and should lead to consideration of further diagnostic evaluations and prophylactic measures.

  7. Living with a Congenital Heart Defect

    Science.gov (United States)

    ... to the dentist also can help prevent IE. Birth Control and Pregnancy Women who have heart defects should ... with their doctors about the safest type of birth control for them. Many of these women can safely ...

  8. Cardiac resynchronization therapy in congenital heart disease.

    Science.gov (United States)

    Janoušek, Jan; Kubuš, Peter

    2016-06-01

    Cardiac resynchronization therapy (CRT) is an established treatment option for adult patients suffering heart failure due to idiopathic or ischemic cardiomyopathy associated with electromechanical dyssynchrony. There is limited evidence suggesting similar efficacy of CRT in patients with congenital heart disease (CHD). Due to the heterogeneity of structural and functional substrates, CRT implantation techniques are different with a thoracotomy or hybrid approach prevailing. Efficacy of CRT in CHD seems to depend on the anatomy of the systemic ventricle with best results achieved in systemic left ventricular patients upgraded to CRT from conventional pacing. Indications for CRT in patients with CHD were recently summarized in the Pediatric and Congenital Electrophysiology Society (PACES) and the Heart Rhythm Society (HRS) Expert Consensus Statement on the Recognition and Management of Arrhythmias in Adult Congenital Heart Disease and are presented in the text.

  9. Reconstruction of congenital defects of the vagina.

    Science.gov (United States)

    Eldor, Liron; Friedman, Jeffrey D

    2011-05-01

    Congenital absence of the vagina is a relatively rare condition most commonly associated with Mayer-Rokitansky-Kuster-Hauser (MRKH) syndrome. Historically, several reconstructive techniques have been described to provide for functional vaginal reconstruction on these patients, both operative and nonoperative. Although there are many advantages and disadvantages of the various procedures, one experience with the use of split thickness skin grafts to reconstruct the vagina has produced acceptable functional results with limited donor site morbidity. Careful planning and timing of this form of reconstruction can produce predictable results in patients who are nearing sexual maturity.

  10. Prevalence of Congenital Heart Defects in Metropolitan Atlanta, 1998–2005

    Science.gov (United States)

    Reller, Mark D.; Strickland, Matthew J.; Riehle-Colarusso, Tiffany; Mahle, William T.; Correa, Adolfo

    2008-01-01

    Objective To determine an accurate estimate of the prevalence of congenital heart defects (CHD) using current standard diagnostic modalities. Study design We obtained data on infants with CHD delivered during 1998–2005 identified by the Metropolitan Atlanta Congenital Defects Program, an active, population-based birth defects surveillance system. Physiologic shunts in infancy and shunts associated with prematurity were excluded. Selected infant and maternal characteristics of the cases were compared with those of the overall birth cohort. Results From 1998–2005 there were 398 140 births, of which 3240 infants had CHD, for an overall prevalence of 81.4/10 000 births. The most common CHD were muscular ventricular septal defect, perimembranous ventricular septal defect, and secundum atrial septal defect, with prevalence of 27.5, 10.6, and 10.3/10 000 births, respectively. The prevalence of tetralogy of Fallot, the most common cyanotic CHD, was twice that of transposition of the great arteries (4.7 vs. 2.3/10 000 births). Many common CHD were associated with older maternal age and multiple-gestation pregnancy; several were found to vary by sex. Conclusion This study, using a standardized cardiac nomenclature and classification, provides current prevalence estimates of the various CHD subtypes. These estimates can be used to assess variations in prevalence across populations, time or space. PMID:18657826

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

    Science.gov (United States)

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

    2016-03-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

    Akagi, Teiji; Kiyomatsu, Yumi; Ohara, Nobutoshi; Takagi, Junichi; Sato, Noboru; Kato, Hirohisa (Kurume Univ., Fukuoka (Japan). School of Medicine); Eto, Takaharu

    1989-10-01

    Cine magnetic resonance imaging (Cine MRI) was performed in 20 patients aged 19 days to 13 years (mean 4.0 years), who had congenital heart disease confirmed at echocardiography or angiography. Prior to cine MRI, gated MRI was performed to evaluate for cardiac structure. Cine MRI was demonstrated by fast low fip angle shot imaging technique with a 30deg flip angle, 15 msec echo time, 30-40 msec pulse repetition time, and 128 x 128 acquisition matrix. Abnormalities of cardiac structure were extremely well defined in all patients by gated MRI. Intracardiac or intravascular blood flow were visualized in 17 (85%) of 20 patients by cine MRI. Left to right shunt flow through ventricular septal defect, atrial septal defect, and endocardial cushion defect were visualized with low signal intensity area. Low intensity jets flow through the site of re-coarctation of the aorta were also visualized. However, the good recording of cine MRI was not obtained because of artifacts in 3 of 20 patients (15%) who had severe congestive heart failure or respiratory arrhythmia. Gated MRI provides excellent visualization of fine structure, and cine MRI can provide high spatial resolution imaging of flow dynamic in a variety of congenital heart disease, noninvasively. (author).

  13. Congenital right pulmonary artery agenesis with atrial septal defect and pulmonary hypertension.

    Science.gov (United States)

    Orun, Utku Arman; Yilmaz, Osman; Bilici, Meki; Karademir, Selmin; Uner, Cigdem; Senocak, Filiz; Dogan, Vehbi

    2012-01-01

    Unilateral pulmonary artery agenesis is a rare congenital anomaly caused by a backward displacement of the conical artery of the truncus arteriosus. It is commonly associated with additional cardiovascular abnormalities. A 7-year-old girl was admitted to our clinic with the complaint of shortness of breath upon exertion. Chest radiography revealed a hypoplastic right lung. Absence of the right pulmonary artery with atrial septal defect and pulmonary hypertension was demonstrated by echocardiography, computed tomography, and cardiac catheterization. Bosentan is effectively used to treat pulmonary arterial hypertension.

  14. Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.

    Science.gov (United States)

    Wat, Margaret J; Shchelochkov, Oleg A; Holder, Ashley M; Breman, Amy M; Dagli, Aditi; Bacino, Carlos; Scaglia, Fernando; Zori, Roberto T; Cheung, Sau Wai; Scott, Daryl A; Kang, Sung-Hae Lee

    2009-08-01

    Recurrent interstitial deletion of a region of 8p23.1 flanked by the low copy repeats 8p-OR-REPD and 8p-OR-REPP is associated with a spectrum of anomalies that can include congenital heart malformations and congenital diaphragmatic hernia (CDH). Haploinsufficiency of GATA4 is thought to play a critical role in the development of these birth defects. We describe two individuals and a monozygotic twin pair discordant for anterior CDH all of whom have complex congenital heart defects caused by this recurrent interstitial deletion as demonstrated by array comparative genomic hybridization. To better define the genotype/phenotype relationships associated with alterations of genes on 8p23.1, we review the spectrum of congenital heart and diaphragmatic defects that have been reported in individuals with isolated GATA4 mutations and interstitial, terminal, and complex chromosomal rearrangements involving the 8p23.1 region. Our findings allow us to clearly define the CDH minimal deleted region on chromosome 8p23.1 and suggest that haploinsufficiency of other genes, in addition to GATA4, may play a role in the severe cardiac and diaphragmatic defects associated with 8p23.1 deletions. These findings also underscore the importance of conducting a careful cytogenetic/molecular analysis of the 8p23.1 region in all prenatal and postnatal cases involving congenital defects of the heart and/or diaphragm.

  15. Chromosome 8p23.1 Deletions as a Cause of Complex Congenital Heart Defects and Diaphragmatic Hernia

    Science.gov (United States)

    Wat, Margaret J.; Shchelochkov, Oleg A.; Holder, Ashley M.; Breman, Amy M.; Dagli, Aditi; Bacino, Carlos; Scaglia, Fernando; Zori, Roberto T.; Cheung, Sau Wai; Scott, Daryl A.; Kang, Sung-Hae Lee

    2009-01-01

    Recurrent interstitial deletion of a region of 8p23.1 flanked by the low copy repeats 8p-OR-REPD and 8p-OR-REPP is associated with a spectrum of anomalies that can include congenital heart malformations and congenital diaphragmatic hernia (CDH). Haploinsufficiency of GATA4 is thought to play a critical role in the development of these birth defects. We describe two individuals and a monozygotic twin pair discordant for anterior CDH all of whom have complex congenital heart defects caused by this recurrent interstitial deletion as demonstrated by array comparative genome hybridization. To better define the genotype/phenotype relationships associated with alterations of genes on 8p23.1, we review the spectrum of congenital heart and diaphragmatic defects that have been reported in individuals with isolated GATA4 mutations and interstitial, terminal, and complex chromosomal rearrangements involving the 8p23.1 region. Our findings allow us to clearly define the CDH minimal deleted region on chromosome 8p23.1 and suggest that haploinsufficiency of other genes, in addition to GATA4, may play a role in the severe cardiac and diaphragmatic defects associated with 8p23.1 deletions. These findings also underscore the importance of conducting a careful cytogenetic/molecular analysis of the 8p23.1 region in all prenatal and postnatal cases involving congenital defects of the heart and/or diaphragm. PMID:19606479

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

    Directory of Open Access Journals (Sweden)

    G. Alsuhaibani

    2016-07-01

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

  17. Transvenous cardiac resynchronization therapy in complex congenital heart diseases: dextrocardia with transposition of the great arteries after Mustard operation.

    Science.gov (United States)

    Zartner, Peter A; Wiebe, Walter; Volkmer, Marius; Thomas, Daniel; Schneider, Martin

    2009-04-01

    Cardiac resynchronization therapy revealed first promising results in patients with a congenital heart disease and a systemic right ventricle. Contrast-enhanced magnetic resonance imaging showed accessibility of the coronary sinus in an 18-year-old male patient with mirror dextrocardia, d-transposition of the great arteries and ventricular septal defect (VSD) after Mustard operation and VSD patch closure. In literatures, transvenous lead placement is discussed in this anatomical setting, with opposed position of the ventricular leads and reliable lead characteristics.

  18. Familial Atrial Septal Defect and Sudden Cardiac Death

    DEFF Research Database (Denmark)

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

    2016-01-01

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

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

    Science.gov (United States)

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

    2016-03-01

    The role of hemodynamics in early heart development is poorly understood. In order to successfully assess the impact of hemodynamics on development, we need to monitor and perturb blood flow, and quantify the resultant effects on morphology. Here, we have utilized cardiac optical pacing to create regurgitant flow in embryonic hearts and OCT to quantify regurgitation percentage and resultant morphology. Embryonic quail in a shell-less culture were optically paced at 3 Hz (well above the intrinsic rate or 1.33-1.67 Hz) on day 2 of development (3-4 weeks human) for 5 minutes. The pacing fatigued the heart and led to a prolonged period (> 1 hour) of increased regurgitant flow. Embryos were kept alive until day 3 (cardiac looping - 4-5 weeks human) or day 8 (4 chambered heart - 8 weeks human) to quantify resultant morphologic changes with OCT. All paced embryos imaged at day 3 displayed cardiac defects. The extent of regurgitant flow immediately after pacing was correlated with cardiac cushion size 24-hours post pacing (p-value congenital heart defects (CHDs) including 11/18 with valve defects, 5/18 with ventricular septal defects and 5/18 with hypoplastic right ventricles. Our data suggests that regurgitant flow leads to smaller cushions, which develop into abnormal valves and septa. Our model produces similar phenotypes as found in our fetal alcohol syndrome and velo-cardio-facial/DiGeorge syndrome models suggesting that hemodynamics plays a role in these syndromes as well. Utilizing OCT and optical pacing to understand hemodynamics in development is an important step towards determining CHD mechanisms and ultimately developing earlier treatments.

  20. The origin of congenital heart defects and the epigenetic programming of the healthy child

    NARCIS (Netherlands)

    S.A. Obermann-Borst (Sylvia)

    2013-01-01

    textabstractBirth defects are a global burden affecting 7% of births worldwide. Congenital heart defects (CHD) are the most common congenital malformation with approximately 1 million children born each year. It is not only the most frequent group of birth defects in human, but also the leading caus

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

    Directory of Open Access Journals (Sweden)

    Fabricio González-Andrade

    2010-04-01

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

  2. Congenital Heart Defects and Receipt of Special Education Services

    Science.gov (United States)

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

    2015-01-01

    BACKGROUND We investigated the prevalence of receipt of special education services among children with congenital heart defects (CHDs) compared with children without birth defects. METHODS Children born from 1982 to 2004 in metropolitan Atlanta with CHDs (n = 3744) were identified from a population-based birth defect surveillance program; children without birth defects (n = 860 715) were identified from birth certificates. Cohorts were linked to special education files for the 1992–2012 school years to identify special education services. Children with noncardiac defects or genetic syndromes were excluded; children with CHDs were classified by presence or absence of critical CHDs (ie, CHDs requiring intervention by age one year). We evaluated the prevalence of receipt of special education services and prevalence rate ratios using children without birth defects as a reference. RESULTS Compared with children without birth defects, children with CHDs were 50% more likely to receive special education services overall (adjusted prevalence rate ratio [aPRR] = 1.5; 95% confidence interval [CI]: 1.4–1.7). Specifically, they had higher prevalence of several special education categories including: intellectual disability (aPRR = 3.8; 95% CI: 2.8–5.1), sensory impairment (aPRR = 3.0; 95% CI: 1.8–5.0), other health impairment (aPRR = 2.8; 95% CI: 2.2–3.5), significant developmental delay (aPRR = 1.9; 95% CI: 1.3–2.8), and specific learning disability (aPRR = 1.4; 95% CI: 1.1–1.7). For most special education services, the excess prevalence did not vary by presence of critical CHDs. CONCLUSIONS Children with CHDs received special education services more often than children without birth defects. These findings highlight the need for special education services and the importance of developmental screening for all children with CHDs. PMID:26283775

  3. Teratogens inducing congenital abdominal wall defects in animal models.

    Science.gov (United States)

    Van Dorp, Dennis R; Malleis, John M; Sullivan, Brian P; Klein, Michael D

    2010-02-01

    Congenital abdominal wall defects are common anomalies which include gastroschisis, omphalocele and umbilical cord hernia. Recent reports indicate that gastroschisis is increasing in prevalence, whereas omphalocele has remained steady, suggesting that environmental factors may play a part in their pathogenesis. The aim of this study is to review animal teratogen studies resulting in abdominal wall defects to investigate their possible causes. Each report was examined not only for the teratogens causing the defects, but also to carefully identify the defect occurring and its correlation with the known clinical anomalies. We found many discrepancies between the nomenclature used by animal teratology investigators and that used by clinicians. We were able to confirm the induction of gastroschisis by 22 teratogens, omphalocele by 9 teratogens and umbilical cord hernia by 8. There is no doubt that environmental factors may be responsible, at least in part, for all three of the clinical abdominal wall defects. Future studies should take care to appreciate the differences between these anomalies and describe them in detail, so that accurate and meaningful conclusions can be obtained.

  4. Using multidetector-row CT in neonates with complex congenital heart disease to replace diagnostic cardiac catheterization for anatomical investigation: initial experiences in technical and clinical feasibility

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Tain; Tsai, I.C.; Chen, Min-Chi [Taichung Veterans General Hospital, 407 Department of Radiology, Taichung (Taiwan); Medical College of Chung Shan Medical University, Faculty of Medicine, Taichung (Taiwan); National Yang Ming University School of Medicine, Department of Medicine, Taipei (Taiwan); Fu, Yun-Ching; Jan, Sheng-Lin [Taichung Veterans General Hospital, Department of Paediatrics, Taichung (Taiwan); National Yang-Ming University, Institute of Clinical Medicine, Taipei (Taiwan); Wang, Chung-Chi; Chang, Yen [Taichung Veterans General Hospital, Section of Cardiovascular Surgery, Department of Surgery, Taichung (Taiwan)

    2006-12-15

    Echocardiography is the first-line modality for the investigation of neonatal congenital heart disease. Diagnostic cardiac catheterization, which has a small but recognized risk, is usually performed if echocardiography fails to provide a confident evaluation of the lesions. To verify the technical and clinical feasibilities of replacing diagnostic cardiac catheterization with multidetector-row CT (MDCT) in neonatal complex congenital heart disease. Over a 1-year period we prospectively enrolled all neonates with complex congenital heart disease referred for diagnostic cardiac catheterization after initial assessment by echocardiography. MDCT was performed using a 40-detector-row CT scanner with dual syringe injection. A multidisciplinary congenital heart disease team evaluated the MDCT images and decided if further diagnostic cardiac catheterization was necessary. The accuracy of MDCT in detecting separate cardiovascular anomalies and bolus geometry of contrast enhancement were calculated. A total of 14 neonates were included in the study. No further diagnostic cardiac catheterization was needed in any neonate. The accuracy of MDCT in diagnosing separate cardiovascular anomalies was 98% (53/54) with only one atrial septal defect missed in a patient with coarctation syndrome. The average cardiovascular enhancement in evaluated chambers was 471 HU. No obvious beam-hardening artefact was observed. The technical and clinical feasibility of MDCT in complex congenital heart disease in neonates is confirmed. After initial assessment with echocardiography, MDCT could probably replace diagnostic cardiac catheterization for further anatomical clarification in neonates. (orig.)

  5. Ellis-van Creveld syndrome and congenital heart defects: presentation of an additional 32 cases.

    Science.gov (United States)

    Hills, Christine B; Kochilas, Lazaros; Schimmenti, Lisa A; Moller, James H

    2011-10-01

    Ellis-van Creveld (EVC) syndrome is a rare genetic abnormality that has been linked to a mutation in the EVC or EVC2 genes. Common atrium (CA) is an uncommon cardiac malformation, and yet it is commonly found in patients with EVC. We performed a retrospective review of the cases submitted to the Pediatric Cardiac Care Consortium (PCCC) between 1982 and 2007. A review of the English-language literature for previously published cases, as well as current genetic research findings, was also performed. Thirty-two pediatric patients with congenital heart disease (CHD) and EVC syndrome were identified in the PCCC database. Twenty-eight (88%) had an endocardial cushion defect, with 15 of these having primary failure of atrial septation resulting in CA. Persistent left superior vena cava (LSVC) and pulmonary venous connection abnormalities were common. The incidence of persistent LSVC and pulmonary venous abnormalities were greater than previously reported for patients with EVC. Our study reviews the reported literature and adds 32 additional cases from the PCCC database. Review of the cardiac phenotype in patients with EVC syndrome reveals a characteristic pattern of atrioventricular canal defects with systemic and pulmonary venous abnormalities. The frequent association of these abnormalities is strongly reminiscent of the cardiac phenotype found in patients with heterotaxy syndromes. Emerging molecular and developmental studies suggest that EVC and EVC2 proteins may be important for cilia function, which is implicated in the pathogenesis of heterotaxy syndromes. It is speculated that coordinate function between the EVC proteins is required for a cilia-dependent cardiac morphogenesis.

  6. Assessment of right ventricular systolic function by echocardiography after surgical repair of congenital heart defects.

    Science.gov (United States)

    Khraiche, Diala; Ben Moussa, Nidhal

    2016-02-01

    Postoperative impairment of right ventricular (RV) systolic function can appear after surgical repair of complex congenital heart defects, such as tetralogy of Fallot; it is caused by chronic volume and/or pressure overload due to pulmonary regurgitation and/or stenosis. RV dysfunction is strongly associated with prognosis in these patients. Cardiac magnetic resonance imaging is the gold standard for quantification of RV volumes and ejection fraction in patients with congenital heart diseases; however, it is costly and is not widely available. Echocardiography is the imaging modality that is most available and most frequently used to assess RV systolic function. However, RV ejection fraction cannot be measured accurately by standard two-dimensional echocardiography because of its pyramidal shape. Surrogate parameters of RV systolic function are mostly used in routine practice. New techniques of two-dimensional strain and three-dimensional quantification of RV volumes and ejection fraction have been developed in recent years. The aim of this article is to show the pertinence of each variable of RV systolic function measured by echocardiography in patients with repaired congenital heart disease and residual chronic RV overload.

  7. Anesthesia for the adult patient with an unrepaired congenital cyanotic heart defect: a case report.

    Science.gov (United States)

    Cosgrove, Marianne S

    2012-06-01

    Adult congenital heart disease, previously considered a rare comorbidity, is increasingly becoming a reality for today's anesthesia providers. Improvements in prenatal diagnosis, sophisticated surgical techniques and equipment, advances in pediatric critical care, enhanced efficacy of cardiovascular pharmacologic agents, and an overall increase in postrepair survival rates have resulted in an estimated population of approximately 800,000 adults with congenital heart disease. Despite successful surgical repair or palliation, these individuals present the anesthesia provider with a multitude of challenges. Individualized care of these fragile patients should be approached with a keen understanding of the patient's underlying cardiac anomaly. This case report chronicles the anesthetic care of a 36-year-old woman presenting for left-sided ureteroscopy with laser lithotripsy and stent placement. Her medical history was remarkable for the presence of complex congenital heart disease consisting of multiple anomalies: a double-outlet right ventricle, transposition of the great arteries, pulmonary stenosis, atrial septal defect, and a hypoplastic left ventricle with concomitant mitral valve atresia. General anesthesia was successfully administered, with meticulous attention given to maintenance of systemic vascular resistance to minimize shunting, oxygenation, administration of preprocedure antibiotics, and judicious replacement of intravenous fluids via air-filtered tubing.

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

    Science.gov (United States)

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

    2008-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Nutan Nalini

    2016-03-01

    Full Text Available BACKGROUND This article is about the stillbirth in which we found significant numbers of cardiac as well as extracardiac defects, in combination or separately. In this article, we would like to emphasize the anomalies found in consanguineous marriages. AIM To correlate the prevalence of cardiac as well as extracardiac anomalies in consanguineous marriages. Especially, here we would like to focus on the cardiac lesions. MATERIAL AND METHOD The study was carried out in 44 still birth foetuses with detailed account of parentage. Significant number of cases with cardiac and extracardiac anomalies was found. RESULTS Out of total 44 stillbirth foetuses, 13 stillbirths were from consanguineous marriages in which 09 had cardiac anomalies. Interrupted aortic arch-02, Abnormal origin of right Subclavian artery- 01, Tetralogy of Fallot- 01, VSD- 04, ASD-01. The extra cardiac findings included Gastroschisis-01, Anencephaly with spina bifida-01, cleft lip/palate-01, polydactyly and syndactyly of ring and little finger-01, limb deformity-01, hydrocephalus-01, craniothoracopagus-01. CONCLUSION Considering the high incidence of cardiac and extracardiac anomalies in consanguineous parentage we must try to create an awareness to avoid the practice of consanguineous marriages in society.

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

    DEFF Research Database (Denmark)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2011-01-01

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

  11. Increased prevalence of congenital heart defects in monozygotic and dizygotic twins

    DEFF Research Database (Denmark)

    Herskind, Anne Maria; Almind Pedersen, Dorthe; Christensen, Kaare

    2013-01-01

    Smaller studies and many case series reports indicate that congenital heart defects may be more common in monochorionic twins than in dichorionic twins and singletons.......Smaller studies and many case series reports indicate that congenital heart defects may be more common in monochorionic twins than in dichorionic twins and singletons....

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

    Science.gov (United States)

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

    2010-12-01

    Arrhythmias are a major cause of morbidity, mortality and hospital admission in adults with congenital heart disease (CHD). The etiology of arrhythmias in this population is often multifactorial and includes electrical disturbances as part of the underlying defect, surgical intervention or hemodynamic abnormalities. Despite the numerous existing arrhythmia management tools including drug therapy, pacing and ablation, management of arrhythmias in adults with CHD remains difficult and challenging. Owing to improvement in mapping and ablation techniques, ablation and arrhythmia surgery are being performed more frequently in adults with CHD. However, there is little information on the long-term results of these treatment strategies. The purpose of this article is therefore to review the available data on nonpharmacological treatment of cardiac arrhythmias in adult patients with CHD and to give an overview of the available data on the early and late outcomes of these treatment strategies.

  13. Prenatal Diagnosis of Non-Syndromic Congenital Heart Defects

    Science.gov (United States)

    Ailes, Elizabeth C.; Gilboa, Suzanne M.; Riehle-Colarusso, Tiffany; Johnson, Candice Y.; Hobbs, Charlotte A.; Correa, Adolfo; Honein, Margaret A.

    2015-01-01

    Objectives Congenital heart defects (CHDs) occur in nearly 1% of live births. We sought to assess factors associated with prenatal CHD diagnosis in the National Birth Defects Prevention Study (NBDPS). Methods We analyzed data from mothers with CHD-affected pregnancies from 1998–2005. Prenatal CHD diagnosis was defined as affirmative responses to questions about abnormal prenatal ultrasounds and/or fetal echocardiography obtained during a structured telephone interview. Results Fifteen percent (1,097/7,299) of women with CHD-affected pregnancies (excluding recognized syndromes and single-gene disorders) reported receiving a prenatal CHD diagnosis. Prenatal CHD diagnosis was positively associated with advanced maternal age, family history of CHD, type 1 or type 2 diabetes, twin or higher order gestation, CHD complexity and presence of extracardiac defects. Prenatal CHD diagnosis was inversely associated with maternal Hispanic race/ethnicity, prepregnancy overweight or obesity, and pre-existing hypertension. Prenatal CHD diagnosis varied by time to NBDPS interview and NBDPS study site. Conclusions Further work is warranted to identify reasons for the observed variability in maternal reports of prenatal CHD diagnosis and the extent to which differences in health literacy or health system factors such as access to specialized prenatal care and/or fetal echocardiography may account for such variability. PMID:24222433

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

    OpenAIRE

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

    2010-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Harpreet

    2016-03-01

    Full Text Available Lumbosacral meningomyelocele and hydrocephalus are two major congenital neurological defects in paediatric patients. METHODS We have discussed management of two cases, one of large meningomyelocele and second of massive hydrocephalus. Both cases were done successfully under general anaesthesia taking care of proper positioning. Child with meningomyelocele was positioned supine on two sand bags, creating a doughnut shaped depression to accommodate the meningomyelocele. Patient with hydrocephalus was placed on 25cms high pillow with head on a high head ring and an assistant’s hand supporting the head while intubation. RESULTS Major challenges for anaesthesiologist in these patients include airway management with proper positioning, replacement of blood and fluid losses and maintenance of body temperature.

  16. A retrospective study of echocardiographic cardiac function and structure in adolescents with congenital scoliosis

    Institute of Scientific and Technical Information of China (English)

    LIANG Jin-qian; QIU Gui-xing; SHEN Jian-xiong; LEE Chia-I; WANG Yi-peng; ZHANG Jian-guo; ZHAO Hong

    2009-01-01

    Background Patients with congenital scoliosis often also have intraspinaJ abnormalities and other organ defects, and few studies of the effects of congenital scoliosis on cardiac function and structure have been published.Methods A total of 215 adolescent patients with congenital scoliosis (average age, 13.58 years) underwent preoperative echocardiography and were then assigned to subgroups according to apex vertebral rotation, side of convexity, curvature severity in the coronal and sagittal planes, type of deformity, and sex. Differences between the subgroups were compared by independent-samples ttest or a one-factor analysis of variance.Results We observed statistically significant differences between patients with right-sided scoliosis curvature and those with left-sided scoliosis curvature, respectively, in left ventricular inner diameter at end-diastole ((39.39±4.66)mm vs (41.74±4.90)mm), left ventricular inner diameter at end-systole ((24.8±3.45)mm vs (25.92±3.07)mm), interventricular septum thickness at end-diastole ((5.66±0.98)mm vs (5.98±1.03)mm), and posterior wail of left ventricle at end-diastole ((5.61±0.98)mm vs (6.06±1.20)mm). When the patients were evaluated by coronal plane Cobb angle, significant differences were found between those with Cobb angle of 40Ω-80Ω and of >80Ω in left ventricular inner diameter at end-diastole ((40.97±5.06)mm vs (38.98±4.45)mm) and left ventricular inner diameter at end-systole ((25.53±3.39)mm vs (24.36±3.14)mm), respectively. When the patients were evaluated by sagittal plane Cobb angle (40Ω, group 3), significant differences were found in right ventricular diameter between those with Cobb angle of 40Ω ((23.83±3.39)mm vs (24.90±3.30)mm), respectively. No significant differences were found in ejection fraction and fractional shortening between patients according to apex vertebral rotation, side of convexity, coronal plane and sagittal plane Cobb angles, type of deformity, or sex

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

    Institute of Scientific and Technical Information of China (English)

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

    2005-01-01

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

  18. Observed Prevalence of Congenital Heart Defects From a Surveillance Study in China

    Science.gov (United States)

    Zhang, Yali; Riehle-Colarusso, Tiffany; Correa, Adolfo; Li, Song; Feng, Xinheng; Gindler, Jacqueline; Lin, Hui; Webb, Catherine; Li, Wei; Trines, Jean; Berry, Robert J.; Yeung, Lorraine; Luo, Ying; Jiang, Meifang; Chen, Hua; Sun, Xiamei; Li, Zhu

    2015-01-01

    Objectives The purpose of this study was to estimate the prevalence of major and minor congenital heart defects among fetuses and neonates using sonography in a general population of 4 areas surrounding Shanghai, China. Methods Pregnant women were recruited between April 2004 and December 2005 in Jiaxing City, Suzhou City, Changshu County, and Haining County. All participants could have 3 sonographic examinations performed by specially trained physicians regardless of medical indication: a fetal sonographic screen and fetal echocardiography between 20 and 28 weeks’ gestation and neonatal echocardiography. Diagnoses of congenital heart defects were made on the basis of review of all available scans by an international group of experts in pediatric cardiology. Prevalence rates were calculated per 1000 births. Results Among 4006 scanned fetuses and neonates, there were 75 congenital heart defects, including 12 major defects. The observed prevalence for all congenital heart defects was 18.7 (95% confidence interval, 14.8–23.5) per 1000 births, and the prevalence for major defects was 3.0 (95% confidence interval, 1.6–5.2) per 1000 births. The most common defects were ventricular septal defects (n = 47 [62.7%]), atrial septal defects (n = 14 [18.7%]), tetralogy of Fallot (n = 4 [5.3%]), and hypoplastic left heart syndrome (n = 3 [4.0%]). Conclusions The prevalence of all congenital heart defects in the 4 areas of China studied was higher than that reported in other countries, with ventricular septal defects being the most frequent defects. Our data likely reflect a better estimate of the total prevalence of congenital heart defects in China than reported previously. PMID:21705732

  19. Congenital heart defects in two siblings in an Axenfeld-Rieger syndrome family.

    Science.gov (United States)

    Akkus, Mehmet Necdet; Argin, Atilla

    2010-04-01

    Axenfeld-Rieger syndrome is a genetically heterogeneous, autosomal dominant disorder characterized by anomalies of the anterior segment of the eye, face, teeth, and umbilicus. Many other extraocular findings, including congenital heart defects, have been reported in association with this syndrome. It has been suggested by some investigators that the coexistence of Axenfeld-Rieger syndrome and congenital heart defects is not a chance event but it represents a distinct entity. We report a family in which four members in three generations have typical ocular features of Axenfeld-Rieger syndrome. Two of them, who are siblings, also have congenital heart defects. The congenital heart defect was bicuspid aortic valve anomaly with severe stenosis and mild regurgitation in one sibling and ostium secundum atrial septal defect in the other. To our knowledge, the combination of congenital heart defects with Axenfeld-Rieger syndrome in siblings has not been reported previously. Our observation further strengthens the notion that Axenfeld-Rieger syndrome associated with congenital heart defects is not a chance event.

  20. Congenital Heart Defects in Europe Prevalence and Perinatal Mortality, 2000 to 2005

    NARCIS (Netherlands)

    Dolk, Helen; Loane, Maria; Garne, Ester

    2011-01-01

    Background-This study determines the prevalence of Congenital Heart Defects (CHD), diagnosed prenatally or in infancy, and fetal and perinatal mortality associated with CHD in Europe. Methods and Results-Data were extracted from the European Surveillance of Congenital Anomalies central database for

  1. Homocysteine related Nutritional and Genetic Risk Factors for Human Congenital Heart Defects

    NARCIS (Netherlands)

    A.C. Verkleij-Hagoort (Anna)

    2007-01-01

    textabstractCongenital heart defects (CHDs) belong to the most common group of major congenital malformations in newborns. Most CHDs are considered complex diseases with a multifactorial aetiology, which are thought to result from interactions between genetic and environmental factors. This thesis p

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

    Science.gov (United States)

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

    2016-05-01

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

  3. Early intestinal perforation secondary to congenital mesenteric defects

    Directory of Open Access Journals (Sweden)

    Ingrid Anne Mandy Schierz

    2016-05-01

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

  4. Disruption of planar cell polarity signaling results in congenital heart defects and cardiomyopathy attributable to early cardiomyocyte disorganization.

    Science.gov (United States)

    Phillips, Helen M; Rhee, Hong Jun; Murdoch, Jennifer N; Hildreth, Victoria; Peat, Jonathan D; Anderson, Robert H; Copp, Andrew J; Chaudhry, Bill; Henderson, Deborah J

    2007-07-20

    The Drosophila scribble gene regulates apical-basal polarity and is implicated in control of cellular architecture and cell growth control. Mutations in mammalian Scrib (circletail; Crc mutant) also result in abnormalities suggestive of roles in planar cell polarity regulation. We show that Crc mutants develop heart malformations and cardiomyopathy attributable to abnormalities in cardiomyocyte organization within the early heart tube. N-Cadherin is lost from the cardiomyocyte cell membrane and cell-cell adhesion is disrupted. This results in abnormalities in heart looping and formation of both the trabeculae and compact myocardium, which ultimately results in cardiac misalignment defects and ventricular noncompaction. Thus, these late abnormalities arise from defects occurring at the earliest stages of heart development. Mislocalization of Vangl2 in Crc/Crc cardiomyocytes suggests Scrib is acting in the planar cell polarity pathway in this tissue. Moreover, double heterozygosity for mutations in both Scrib and Vangl2 can cause cardiac defects similar to those found in homozygous mutants for each gene but without other major defects. We propose that heterozygosity for mutations in different genes in the planar cell polarity pathway may be an important mechanism for congenital heart defects and cardiomyopathy in humans.

  5. Congenital subclavian arteriovenous malformation causing cardiac failure in an adult.

    Science.gov (United States)

    Anoop, T M; Sreejith, P; Thomas, Joby K; Gailin, B; Jabbar, P K; Ittycheria, Cherian C; George, Raju

    2009-07-01

    Congenital arteriovenous malformations (AVMs) of the thoracic region are rarely reported in adults. The authors report an unusual case of a 30-year-old man who presented with a large congenital AVM and heart failure. The diagnosis was made using transthoracic Doppler echocardiography and computed tomography. Embolization followed by surgical resection of the AVM resulted in the prompt relief of heart failure.

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

    Directory of Open Access Journals (Sweden)

    Andrew E. Czeizel

    2013-11-01

    Full Text Available Diet, particularly vitamin deficiency, is associated with the risk of birth defects. The aim of this review paper is to show the characteristics of common and severe neural-tube defects together with congenital heart defects (CHD as vitamin deficiencies play a role in their origin. The findings of the Hungarian intervention (randomized double-blind and cohort controlled trials indicated that periconceptional folic acid (FA-containing multivitamin supplementation prevented the major proportion (about 90% of neural-tube defects (NTD as well as a certain proportion (about 40% of congenital heart defects. Finally the benefits and drawbacks of three main practical applications of folic acid/multivitamin treatment such as (i dietary intake; (ii periconceptional supplementation; and (iii flour fortification are discussed. The conclusion arrived at is indeed confirmation of Benjamin Franklin’s statement: “An ounce of prevention is better than a pound of care”.

  7. [Myotonia and cardiac conduction defects in myotonic dystrophy and defect in ion channels].

    Science.gov (United States)

    Kubota, Tomoya; Nakamori, Masayuki; Takahashi, Masanori P

    2014-03-01

    Myotonic dystrophy (DM), the most common hereditary muscle disease in adults, is caused by the unstable genomic expansion of simple sequence repeats. This disease is characterized by myotonia and various multisystemic complications, most commonly those of the cardiac, endocrine, and central nervous systems. The cardiac abnormalities, especially cardiac conduction defects, significantly contribute to morbidity and mortality in DM patients. Therefore, understanding the pathophysiology of cardiac conduction defects in DM is important. The pathomechanism of DM has been thoroughly investigated. The mutant RNA transcripts containing the expanded repeat give rise to a toxic gain-of-function by perturbing splicing factors in the nucleus, leading to the misregulation of alternative pre-mRNA splicing. In particular, several studies, including ours, have shown that myotonia is caused by alternative splicing of the CLCN1 gene coding the voltage-gated chloride channel in skeletal muscle through an "RNA-dominant mechanism". Since the aberrantly spliced isoform does not seem to form a functional channel, the feature of skeletal muscle in DM can be interpreted as a "channelopathy" caused by reduced chloride channel protein. Similarly, we recently identified a misregulation of alternative splicing in an ion channel gene which is known to be responsible for arrhythmic disease showing Mendelian inheritance. Here, we review the cardiac manifestation and RNA-dominant mechanism of DM, and discuss the possible pathophysiology of cardiac conduction defects by referring to hereditary arrhythmic diseases, such as long QT syndrome and Brugada syndrome.

  8. Imaging techniques for visualizing and phenotyping congenital heart defects in murine models.

    Science.gov (United States)

    Liu, Xiaoqin; Tobita, Kimimasa; Francis, Richard J B; Lo, Cecilia W

    2013-06-01

    Mouse model is ideal for investigating the genetic and developmental etiology of congenital heart disease. However, cardiovascular phenotyping for the precise diagnosis of structural heart defects in mice remain challenging. With rapid advances in imaging techniques, there are now high throughput phenotyping tools available for the diagnosis of structural heart defects. In this review, we discuss the efficacy of four different imaging modalities for congenital heart disease diagnosis in fetal/neonatal mice, including noninvasive fetal echocardiography, micro-computed tomography (micro-CT), micro-magnetic resonance imaging (micro-MRI), and episcopic fluorescence image capture (EFIC) histopathology. The experience we have gained in the use of these imaging modalities in a large-scale mouse mutagenesis screen have validated their efficacy for congenital heart defect diagnosis in the tiny hearts of fetal and newborn mice. These cutting edge phenotyping tools will be invaluable for furthering our understanding of the developmental etiology of congenital heart disease.

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

    Science.gov (United States)

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

    2015-01-18

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

  10. Isolated congenital cardiac diverticulum originating from the left ventricular apex: Report of a pediatric case

    Directory of Open Access Journals (Sweden)

    Fahrettin Uysal

    2016-01-01

    Full Text Available Congenital ventricular diverticulum is a rare cardiac anomaly defined as a localized protrusion of the ventricular free wall. Although, it is usually asymptomatic, complications such as embolism, infective endocarditis, and arrhythmias can occur. The diagnosis can be made by echocardiography, cardiac magnetic resonance imaging, or catheter angiography. Surgical resection is the treatment of choice in symptomatic patients, whereas the management of asymptomatic patients often represents a therapeutic dilemma. We report here, a 9-month-old patient with asymptomatic congenital left ventricular (LV diverticulum associated with epigastric hernia.

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

    Directory of Open Access Journals (Sweden)

    Mohindra R

    2002-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-05-01

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

  13. Cardiac defect with diaphragmatic hernia and left lung agenesis--heart disease and other anomalies.

    Science.gov (United States)

    Palma, G; Giordano, R; Russolillo, V; Vosa, C

    2010-10-01

    This report describes a rare case of left pulmonary agenesis associated with congenital diaphragmatic hernia and congenital heart disease in a 2-year-old child with pulmonary hypertension. We performed direct radical correction of the congenital heart defect. The postoperative course was challenging but without major complications.

  14. Defective organification of iodide causing congenital goitrous hypothyroidism.

    Science.gov (United States)

    Ishikawa, N; Eguchi, K; Ohmori, T; Momotani, N; Nagayama, Y; Hosoya, T; Oguchi, H; Mimura, T; Kimura, S; Nagataki, S; Ito, K

    1996-01-01

    A 26-yr-old Japanese woman with congenital goitrous hypo-thyroidism and sensorineural deafness underwent a thyroidectomy. Examination of the thyroid gland revealed characteristic features of multinodular goiter. The T3 and T4 content in thyroglobulin (Tg) were 0.03 and 0.02 mol/mol Tg, respectively. Iodide incorporation into Tg, using slices of the thyroid tissue, revealed that iodide organification of thyroid tissue from our patient was markedly lower than that of normal controls. Then, guaiacol and iodide oxidation activities of thyroid peroxidase (TPO) in our patient's thyroid tissue were lower than those of normal controls (guaiacol assay: 1.92 vs. 30.0 +/- 5.7 mGU/mg protein; iodide assay: 1.1 vs. 6.6 +/- 2.8 mIU/mg protein). Lineweaver-Burk plot analysis of the oxidation rates of guaiacol and iodide indicated that this patient's TPO had a defect in the binding of guaiacol and iodide, but the coupling activity of the patient's TPO was not decreased compared with those of two normal thyroids. In this case and in control subjects, Nothern gel analysis of TPO messenger RNA from unstimulated and TSH-stimulated thyroid cells revealed a 3.2 kilobase species in the former and four distinct messenger RNA species of 4.0, 3.2, 2.1, and 1.7 kilobases in the latter. Western blot analysis of TPOs obtained from this patient and from control subjects identified the same 107 kDa protein, using antimicrosomal antibody-positive serum. We analyzed the coding sequence in the patient's TPO gene by using polymerase chain reaction technique. A single point mutation of G-->C at 1265 base pair was detected only in the TPO gene, but this point mutation does not alter the amino acid residue. It is possible that posttranslational modification such as abnormal glycosylation may occur in the TPO molecules. Furthermore, it is possible that there are differences in the tertiary structures of the TPO molecules between our patient and normal subjects. The above abnormalities of TPO molecules

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

    Directory of Open Access Journals (Sweden)

    Thayanny Lopes do Vale Barros

    2014-09-01

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

  16. Congenital heart defect in a patient with deletion of chromosome 7q.

    Science.gov (United States)

    Tiller, G E; Watson, M S; Duncan, L M; Dowton, S B

    1988-02-01

    We describe a premature male infant with a terminal deletion of 7q [del(7) (pter----q34:)]. Manifestations include low birth weight, hypertelorism, bilateral cleft lip and palate, cryptorchidism, and a complex congenital heart defect. The latter consisted of hypoplasia of the main pulmonary artery, absent pulmonary valve, ventricular septal defect, and anomalous right pulmonary artery. We briefly review the spectrum of heart defects seen with chromosome 7 deletions, and comment on the incidence of this unusual heart lesion.

  17. Intraoperative cardiac mapping in the treatment of an infant congenital fibroma.

    Science.gov (United States)

    Sakamoto, Shun-Ichiro; Shibata, Masafumi; Murata, Hiroshige; Nitta, Takashi

    2015-03-01

    Surgical treatment for ventricular tachycardia associated with congenital cardiac tumors is rare. Intraoperative electroanatomic mapping was performed in a 23-month-old female infant to identify the arrhythmogenic substrate of the epicardium before tumor resection. Verification of the localized abnormal electrocardiogram on the tumor in the treatment of ventricular tachycardia was useful for successful partial resection and cryoablation of the giant fibroma.

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

    Directory of Open Access Journals (Sweden)

    Devalina Goswami

    2015-01-01

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

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

    Science.gov (United States)

    Goswami, Devalina; Seetharamaiah, Shwetha; Kedia, Sraban Kumar; Nayak, Bhagabat Kumar; Akshat, Shiv

    2015-06-01

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

  20. Outcome after surgical repair of congenital cardiac malformations at school age.

    NARCIS (Netherlands)

    Rijken, R.E.A. van der; Maassen, B.A.M.; Walk, T.L.M.; Daniels, O.; Hulstijn-Dirkmaat, G.M.

    2007-01-01

    OBJECTIVES: To explore the long-term physical, educational, behavioural, and emotional outcome of patients undergoing surgical correction of congenital cardiac disease at school age, and to investigate the relation, if any, between the outcome and comorbidity, age and sex, and level of complexity of

  1. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

    Science.gov (United States)

    Sifrim, Alejandro; Hitz, Marc-Phillip; Wilsdon, Anna; Breckpot, Jeroen; Turki, Saeed H Al; Thienpont, Bernard; McRae, Jeremy; Fitzgerald, Tomas W; Singh, Tarjinder; Swaminathan, Ganesh Jawahar; Prigmore, Elena; Rajan, Diana; Abdul-Khaliq, Hashim; Banka, Siddharth; Bauer, Ulrike M M; Bentham, Jamie; Berger, Felix; Bhattacharya, Shoumo; Bu'Lock, Frances; Canham, Natalie; Colgiu, Irina-Gabriela; Cosgrove, Catherine; Cox, Helen; Daehnert, Ingo; Daly, Allan; Danesh, John; Fryer, Alan; Gewillig, Marc; Hobson, Emma; Hoff, Kirstin; Homfray, Tessa; Kahlert, Anne-Karin; Ketley, Ami; Kramer, Hans-Heiner; Lachlan, Katherine; Lampe, Anne Katrin; Louw, Jacoba J; Manickara, Ashok Kumar; Manase, Dorin; McCarthy, Karen P; Metcalfe, Kay; Moore, Carmel; Newbury-Ecob, Ruth; Omer, Seham Osman; Ouwehand, Willem H; Park, Soo-Mi; Parker, Michael J; Pickardt, Thomas; Pollard, Martin O; Robert, Leema; Roberts, David J; Sambrook, Jennifer; Setchfield, Kerry; Stiller, Brigitte; Thornborough, Chris; Toka, Okan; Watkins, Hugh; Williams, Denise; Wright, Michael; Mital, Seema; Daubeney, Piers E F; Keavney, Bernard; Goodship, Judith; Abu-Sulaiman, Riyadh Mahdi; Klaassen, Sabine; Wright, Caroline F; Firth, Helen V; Barrett, Jeffrey C; Devriendt, Koenraad; FitzPatrick, David R; Brook, J David; Hurles, Matthew E

    2016-09-01

    Congenital heart defects (CHDs) have a neonatal incidence of 0.8-1% (refs. 1,2). Despite abundant examples of monogenic CHD in humans and mice, CHD has a low absolute sibling recurrence risk (∼2.7%), suggesting a considerable role for de novo mutations (DNMs) and/or incomplete penetrance. De novo protein-truncating variants (PTVs) have been shown to be enriched among the 10% of 'syndromic' patients with extra-cardiac manifestations. We exome sequenced 1,891 probands, including both syndromic CHD (S-CHD, n = 610) and nonsyndromic CHD (NS-CHD, n = 1,281). In S-CHD, we confirmed a significant enrichment of de novo PTVs but not inherited PTVs in known CHD-associated genes, consistent with recent findings. Conversely, in NS-CHD we observed significant enrichment of PTVs inherited from unaffected parents in CHD-associated genes. We identified three genome-wide significant S-CHD disorders caused by DNMs in CHD4, CDK13 and PRKD1. Our study finds evidence for distinct genetic architectures underlying the low sibling recurrence risk in S-CHD and NS-CHD.

  2. Dental plaque microbial profiles of children from Khartoum, Sudan, with congenital heart defects

    Science.gov (United States)

    Mohamed Ali, Hiba; Berggreen, Ellen; Nguyen, Daniel; Wahab Ali, Raouf; Van Dyke, Thomas E.; Hasturk, Hatice; Mustafa, Manal

    2017-01-01

    ABSTRACT Few studies have focused on the bacterial species associated with the deterioration of the dental and gingival health of children with congenital heart defects (CHD). The aims of this study were (1) to examine the dental plaque of children with CHD in order to quantify bacterial load and altered bacterial composition compared with children without CHD; and (2) to investigate the correlation between the level of caries and gingivitis and dental biofilm bacteria among those children. In this cross-sectional study, participants were children (3–12 years) recruited in Khartoum State, Sudan. A total of 80 CHD cases from the Ahmed Gasim Cardiac Centre and 80 healthy controls from randomly selected schools and kindergartens were included. Participants underwent clinical oral examinations for caries (decayed, missing, and filled teeth indices [DMFT] for primary dentition, and DMFT for permanent dentition), and gingivitis (simplified gingival index [GI]). Pooled dental biofilm samples were obtained from four posterior teeth using paper points. Real-time quantitative polymerase chain reaction was used for the detection and quantification of Streptococcus mutans, Streptococcussanguinis, and Lactobacillus acidophilus. Checkerboard DNA–DNA hybridization was used for the detection of 40 additional bacterial species. CHD cases had a significantly higher caries experience (DMFT = 4.1 vs. 2.3, p gingivitis (4.2 vs. 2.0; p gingivitis. PMID:28326155

  3. Primary prevention of neural tube defects: data from the portuguese national registry of congenital anomalies (RENAC)

    OpenAIRE

    Braz, Paula; Machado, Ausenda; Matias Dias, Carlos

    2016-01-01

    Background: In Portugal folic acid supplementation is recommended to start at least 2-3 months before conception for primary prevention of Neural Tube Defects. The aim of this study was to evaluate, within gestations with at least one congenital anomaly, possible association between maternal socio-demographic factors and the use of folic acid. Methods: Using data from the Portuguese national registry of congenital anomalies, for the 2004-2013 period, the association between folic acid use dur...

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

    Directory of Open Access Journals (Sweden)

    Jagdish Menghraj Shahani

    2012-01-01

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

  5. Detection of critical congenital heart defects: Review of contributions from prenatal and newborn screening.

    Science.gov (United States)

    Olney, Richard S; Ailes, Elizabeth C; Sontag, Marci K

    2015-04-01

    In 2011, statewide newborn screening programs for critical congenital heart defects began in the United States, and subsequently screening has been implemented widely. In this review, we focus on data reports and collection efforts related to both prenatal diagnosis and newborn screening. Defect-specific, maternal, and geographic factors are associated with variations in prenatal detection, so newborn screening provides a population-wide safety net for early diagnosis. A new web-based repository is collecting information on newborn screening program policies, quality indicators related to screening programs, and specific case-level data on infants with these defects. Birth defects surveillance programs also collect data about critical congenital heart defects, particularly related to diagnostic timing, mortality, and services. Individuals from state programs, federal agencies, and national organizations will be interested in these data to further refine algorithms for screening in normal newborn nurseries, neonatal intensive care settings, and other special populations; and ultimately to evaluate the impact of screening on outcomes.

  6. Deletion of JAM-C, a candidate gene for heart defects in Jacobsen syndrome, results in a normal cardiac phenotype in mice.

    Science.gov (United States)

    Ye, Maoqing; Hamzeh, Rabih; Geddis, Amy; Varki, Nissi; Perryman, M Benjamin; Grossfeld, Paul

    2009-07-01

    The 11q terminal deletion disorder (11q-) is a rare chromosomal disorder caused by a deletion in distal 11q. Fifty-six percent of patients have clinically significant congenital heart defects. A cardiac "critical region" has been identified in distal 11q that contains over 40 annotated genes. In this study, we identify the distal breakpoint of a patient with a paracentric inversion in distal 11q who had hypoplastic left heart and congenital thrombocytopenia. The distal breakpoint mapped to JAM-3, a gene previously identified as a candidate gene for causing HLHS in 11q-. To determine the role of JAM-3 in cardiac development, we performed a comprehensive cardiac phenotypic assessment in which the mouse homolog for JAM-3, JAM-C, has been deleted. These mice have normal cardiac structure and function, indicating that haplo-insufficiency of JAM-3 is unlikely to cause the congenital heart defects that occur in 11q- patients. Notably, we identified a previously undescribed phenotype, jitteriness, in most of the sick or dying adult JAM-C knockout mice. These data provide further insights into the identification of the putative disease-causing cardiac gene(s) in distal 11q, as well as the functions of JAM-C in normal organ development.

  7. Cardiac arrhythmias and conduction defects in systemic sclerosis.

    Science.gov (United States)

    Vacca, Alessandra; Meune, Christophe; Gordon, Jessica; Chung, Lorinda; Proudman, Susanna; Assassi, Shervin; Nikpour, Mandana; Rodriguez-Reyna, Tatiana S; Khanna, Dinesh; Lafyatis, Robert; Matucci-Cerinic, Marco; Distler, Oliver; Allanore, Yannick

    2014-07-01

    Signs and symptoms of arrhythmias or conduction defects are frequently reported in patients with SSc. These rhythm disorders may have several origins (i.e., related to primary heart involvement, pericardial disease, valvular regurgitation or pulmonary arterial hypertension) and may negatively affect the overall prognosis of these patients. It is therefore important to identify patients at high risk for cardiac arrhythmias with a complete cardiological evaluation and to identify the underlying heart disease, including SSc-related myocardial involvement. In addition, some therapeutic options in SSc patients may differ from those recommended in other populations.

  8. Neonatal screening to detect critical congenital cardiac disease. A revolution in pediatrics

    Directory of Open Access Journals (Sweden)

    Vela Amieva Marcela

    2014-07-01

    Full Text Available There is solid evidence that demonstrate the usefulness of routine oxygen saturation testing in every apparently healthy newborn after 24 hours of life and before 48 hours. This procedure is known as “newborn screening for critical congenital heart disease” and serves to detect timely those congenital structural cardiac malformations with hypoxema, such as heart syndrome, pulmonary valve atresia, truncus arteriosus, total anomalous pulmonary vein connection, complete transposition of the great arteries, tetralogy of Fallot and tricuspid valve atresia. This test has been included in the mandatory neonatal screening panel of many countries and its generalization all over the world, seems imminent.

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

    Institute of Scientific and Technical Information of China (English)

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

    2013-01-01

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

  10. Congenital defect of the partial atrioventricular canal with Klinefelter syndrome

    OpenAIRE

    Zhang, Yejing

    2009-01-01

    The case of a 25-year-old man with a partial atrioventricular canal defect (PAVCD) with Klinefelter syndrome is reported here. The patient had Klinefelter syndrome associated with an atrial septal defect and the cleft of the anterior leaflet of the mitral valve.

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

    Science.gov (United States)

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

    2010-03-01

    With advances in pediatric cardiology and cardiac surgery, the population of adults with congenital heart disease (CHD) has increased. In the current era, there are more adults with CHD than children. This population has many unique issues and needs. They have distinctive forms of heart failure and their cardiac disease can be associated with pulmonary hypertension, thromboemboli, complex arrhythmias and sudden death. Medical aspects that need to be considered relate to the long-term and multisystemic effects of single ventricle physiology, cyanosis, systemic right ventricles, complex intracardiac baffles and failing subpulmonary right ventricles. Since the 2001 Canadian Cardiovascular Society Consensus Conference report on the management of adults with CHD, there have been significant advances in the field of adult CHD. Therefore, new clinical guidelines have been written by Canadian adult CHD physicians in collaboration with an international panel of experts in the field. Part III of the guidelines includes recommendations for the care of patients with complete transposition of the great arteries, congenitally corrected transposition of the great arteries, Fontan operations and single ventricles, Eisenmenger's syndrome, and cyanotic heart disease. Topics addressed include genetics, clinical outcomes, recommended diagnostic workup, surgical and interventional options, treatment of arrhythmias, assessment of pregnancy risk and follow-up requirements. The complete document consists of four manuscripts, which are published online in the present issue of The Canadian Journal of Cardiology. The complete document and references can also be found at www.ccs.ca or www.cachnet.org.

  12. 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.

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

    Directory of Open Access Journals (Sweden)

    Lofland Gary K

    2011-01-01

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

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

    NARCIS (Netherlands)

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

    2015-01-01

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

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

    NARCIS (Netherlands)

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

    2006-01-01

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

  16. An abused five-month-old girl: Hangman's fracture or congenital arch defect?

    NARCIS (Netherlands)

    Rijn, R.R. van; Kool, D.R.; Witt-Hamer, P.C. de; Majoie, C.B.

    2005-01-01

    Hangman's fractures are a rare finding in childhood. In case of suspected or proven child abuse, differentiation with a congenital defect of the posterior arch of C2 is essential. We present the case of a 5-month-old girl, who had a history of being physically abused by one of her caretakers. On the

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

    NARCIS (Netherlands)

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

    2015-01-01

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

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

    DEFF Research Database (Denmark)

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

    2012-01-01

    Congenital aortocaval fistula is a very rare anomaly. Clinically, it resembles conditions that cause left-to-right shunt of blood. We report a case of such anomaly in combination with a secundum atrial septal defect in a 13-month-old girl who presented with failure to thrive and exertional respir...

  19. Effect of Congenital Heart Defects on Language Development in Toddlers with Down Syndrome

    Science.gov (United States)

    Visootsak, J.; Hess, B.; Bakeman, R.; Adamson, L. B.

    2013-01-01

    Background: Down syndrome (DS, OMIM #190685) is the most commonly identified genetic form of intellectual disability with congenital heart defect (CHD) occurring in 50% of cases. With advances in surgical techniques and an increasing lifespan, this has necessitated a greater understanding of the neurodevelopmental consequences of CHDs. Herein, we…

  20. Perventricular device closure of residual muscular ventricular septal defects after repair of complex congenital heart defects in pediatric patients.

    Science.gov (United States)

    Zhu, Da; Tao, Kaiyu; An, Qi; Luo, Shuhua; Gan, Changping; Lin, Ke

    2013-01-01

    Residual muscular ventricular septal defects are surgical challenges, especially after the repair of complex congenital heart defects. We investigated perventricular device closure as a salvage technique in pediatric patients who had postoperative residual muscular ventricular septal defects. From February 2009 through June 2011, 14 pediatric patients at our hospital had residual muscular ventricular septal defects after undergoing surgical repair of complex congenital heart defects. Ten patients met our criteria for perventricular device closure of the residual defects: significant left-to-right shunting (Qp/Qs >1.5) or substantial hemodynamic instability (a defect ≥2 mm in size). The patients' mean age was 20.4 ± 13.5 months, and their mean body weight was 10 ± 3.1 kg. The median diameter of the residual defects was 4.2 mm (range, 2.5-5.1 mm). We deployed a total of 11 SQFDQ-II Muscular VSD Occluders (Shanghai Shape Memory Alloy Co., Ltd.; Shanghai, China) in the 10 patients, in accord with conventional techniques of perventricular device closure. The mean procedural duration was 31.1 ±9.1 min. We recorded the closure and complication rates perioperatively and during a 12-month follow-up period. Complete closure was achieved in 8 patients; 2 patients had persistent trivial residual shunts. No deaths, conduction block, device embolism, or other complications occurred throughout the study period. We conclude that perventricular device closure is a safe, effective salvage treatment for postoperative residual muscular ventricular septal defects in pediatric patients. Long-term studies with larger cohorts might further confirm this method's feasibility.

  1. GATA6 mutations cause human cardiac outflow tract defects by disrupting semaphorin-plexin signaling

    Science.gov (United States)

    Kodo, Kazuki; Nishizawa, Tsutomu; Furutani, Michiko; Arai, Shoichi; Yamamura, Eiji; Joo, Kunitaka; Takahashi, Takao; Matsuoka, Rumiko; Yamagishi, Hiroyuki

    2009-01-01

    Congenital heart diseases (CHD) occur in nearly 1% of all live births and are the major cause of infant mortality and morbidity. Although an improved understanding of the genetic causes of CHD would provide insight into the underlying pathobiology, the genetic etiology of most CHD remains unknown. Here we show that mutations in the gene encoding the transcription factor GATA6 cause CHD characteristic of a severe form of cardiac outflow tract (OFT) defect, namely persistent truncus arteriosus (PTA). Two different GATA6 mutations were identified by systematic genetic analysis using DNA from patients with PTA. Genes encoding the neurovascular guiding molecule semaphorin 3C (SEMA3C) and its receptor plexin A2 (PLXNA2) appear to be regulated directly by GATA6, and both GATA6 mutant proteins failed to transactivate these genes. Transgenic analysis further suggests that, in the developing heart, the expression of SEMA3C in the OFT/subpulmonary myocardium and PLXNA2 in the cardiac neural crest contributing to the OFT is dependent on GATA transcription factors. Together, our data implicate mutations in GATA6 as genetic causes of CHD involving OFT development, as a result of the disruption of the direct regulation of semaphorin-plexin signaling. PMID:19666519

  2. Medically Related Post-traumatic Stress in Children and Adolescents with Congenital Heart Defects

    Science.gov (United States)

    Meentken, Maya G.; van Beynum, Ingrid M.; Legerstee, Jeroen S.; Helbing, Willem A.; Utens, Elisabeth M. W. J.

    2017-01-01

    Children and adolescents with a congenital heart defect (ConHD) frequently undergo painful or frightening medical procedures and hospitalizations. They often need multiple invasive procedures at a very young age and require regular checkups during their entire life. From other pediatric populations, it is known that these kinds of experiences can result in acute stress reactions and even in post-traumatic stress disorder (PTSD) in the long-term. PTSD and also subthreshold PTSD can lead to serious (psychosocial) impairment. However, limited information is available about PTSD in children with ConHD. Therefore, the aim of this review is to provide a summary of the current literature on post-traumatic stress (PTS) in children and adolescents with ConHD describing the prevalence of PTSD and its predictors/correlates. This review indicates that a range of 12–31% of children undergoing cardiac surgery develop PTSD. A range of 12–14% shows elevated post-traumatic stress symptoms (PTSS). These findings are comparable to those of hospitalized children without ConHD. Noteworthy, most studies used varying self-report questionnaires to measure PTSD and only one study used a semistructured interview. Although all studies point in the same direction of elevated PTSD and PTSS, systematic research is necessary to be able to draw firm conclusions. At present, as far as we know, in most clinics treating patients with ConHD, there is no regular screening for PTS in children with ConHD. In the reviewed literature, there is strong consensus that screening for PTSS and (preventive) psychological care for children and adolescents with ConHD is urgently needed. PMID:28243582

  3. [Analgosedation with fentanyl/midazolam after correction of congenital heart defects].

    Science.gov (United States)

    Michel-Behnke, I; Rothes, A; Hund, F; Huth, R; Wippermann, C F; Schmidt, F X; Oelert, H; Schranz, D

    1995-01-01

    There is no standard therapy in the management of postoperative pain control following corrective cardiac surgery of congenital heart disease. Assessment in the preverbal age is difficult. In a randomized study we compared a combined treatment of fentanyl and midazolam, given as continuous infusion versus single dose application. A pain assessment score was used to measure the effectiveness of analgosedation in addition to recording nurseries observations. Fentanyl and midazolam are an appropriate combination for postoperative pain treatment. Continuous application is considered to be more effective concerning basic anxiety, cumulative dosage and to avoid volume overload in infants and young children, following cardiac surgery; overdosage was not observed.

  4. Remote delivery of congenital cardiac magnetic resonance imaging services: a unique telemedicine model.

    Science.gov (United States)

    Garg, Ruchira; Sevilla, Arnel; Garberich, Ross; Fleishman, Craig E

    2015-01-01

    Cardiac magnetic resonance imaging (CMRI) is increasingly utilized in the management of patients with congenital heart disease. Unfortunately, the expertise to perform and interpret these studies is not universally available, despite an increasing population of congenital heart survivors. This retrospective analysis describes our experience providing on-site CMRI services compared with providing the same services over a geographic distance of 250 miles. There were 83 local scans with both physician and patient on-site compared with 91 scans controlled by a physician geographically remote from the patients. The patients were well-matched for age, sex, study duration, scan type, and history of prior cardiac intervention. There was no difference in use of deep sedation or diazepam for anxiolysis, or use of atropine for arrhythmia suppression. There were no patient safety issues and there was satisfaction on the part of the referring physicians who were able to obtain more timely studies, as well as the remote-scanning physicians who had a workflow comparable with the local scans, but no lost travel time. This experience suggests that remote delivery of cardiac MRI services for the congenital heart population is feasible and can be done with comparable success and safety to a traditional "local" model. We also suggest the configuration to provide such remote CMRI services with commercially available hardware and software.

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

    DEFF Research Database (Denmark)

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

    2013-01-01

    OBJECTIVES: To examine trends in the prevalence of congenital heart defects (CHDs) in Europe and to compare these trends with the recent decrease in the prevalence of CHDs in Canada (Quebec) that was attributed to the policy of mandatory folic acid fortification. STUDY DESIGN: We used data...... for the period 1990-2007 for 47 508 cases of CHD not associated with a chromosomal anomaly from 29 population-based European Surveillance of Congenital Anomalies registries in 16 countries covering 7.3 million births. We estimated trends for all CHDs combined and separately for 3 severity groups using random...

  6. Temporal Trends in Survival Among Infants With Critical Congenital Heart Defects

    Science.gov (United States)

    Oster, Matthew E.; Lee, Kyung A.; Honein, Margaret A.; Riehle-Colarusso, Tiffany; Shin, Mikyong; Correa, Adolfo

    2015-01-01

    OBJECTIVE To evaluate the trends in survival for infants with critical congenital heart defects (CCHDs) and to examine the potential impact of timing of diagnosis and other prognostic factors on survival. METHODS We performed a retrospective population-based cohort study in infants born with structural congenital heart defects (CHDs) between 1979 and 2005 and ascertained by the Metropolitan Atlanta Congenital Defects Program. We estimated Kaplan-Meier survival probabilities for 12 CCHD phenotypes by birth era and timing of diagnosis among infants without noncardiac defects or chromosomal disorders and used stratified Cox proportional hazards models to assess potential prognostic factors. RESULTS Of 1 056 541 births, there were 6965 infants with CHDs (1830 with CCHDs). One-year survival was 75.2% for those with CCHDs (n = 1336) vs 97.1% for those with noncritical CHDs (n = 3530; P 1 day of age (n = 405; P < .001). There was a significantly higher risk of 1-year mortality for infants with an earlier birth era, earlier diagnosis, and low birth weight and whose mothers were <30 years old. CONCLUSIONS One-year survival for infants with CCHDs has been improving over time, yet mortality remains high. Later diagnosis is associated with improved 1-year survival. These benchmark data and identified prognostic factors may aid future evaluations of the impact of pulse oximetry screening on survival from CCHDs. PMID:23610203

  7. Drug-induced congenital defects: strategies to reduce the incidence.

    Science.gov (United States)

    De Santis, M; Carducci, B; Cavaliere, A F; De Santis, L; Straface, G; Caruso, A

    2001-01-01

    Approximately 1% of congenital anomalies relate to pharmacological exposure and are. in theory, preventable. Prevention consists of controlled administration of drugs known to have teratogenic properties (e.g. retinoids, thalidomide). When possible, prevention could take the form of the use of alternative pharmacological therapies during the pre-conception period for certain specific pathologies, selecting the most appropriate agent for use during pregnancy [e.g. haloperidol or a tricyclic antidepressant instead of lithium; anticonvulsant drug monotherapy in place of multitherapy; propylthiouracil instead of thiamazole (methimazole)], and substitution with the most suitable therapy during pregnancy (e.g. insulin in place of oral antidiabetics; heparin in place of oral anticoagulants; alpha-methyldopa instead of ACE inhibitors). Another strategy is the administration of drugs during pregnancy taking into account the pharmacological effects in relation to the gestation period (e.g. avoidance of chemotherapy during the first trimester, avoidance of nonsteroidal anti-inflammatory drugs in the third trimester, and avoidance of high doses of benzodiazepines in the period imminent to prepartum).

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2009-02-15

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

  9. OntoDiagram: Automatic Diagram Generation for Congenital Heart Defects in Pediatric Cardiology

    OpenAIRE

    Vishwanath, Kartik; Viswanath, Venkatesh; Drake, William; Lee, Yugyung

    2005-01-01

    In pediatric cardiology as well as many other medical specialties, the accurate portrayal of a large volume of patient information is crucial to providing good patient care. Our research aims at utilizing clinical and spatial ontologies representing the human heart, to automatically generate a Mullins-like diagram [6] based on a patient's information in the cardiology databases. Our ontology allows an intuitive way of modeling congenital defects with the structure of the hum...

  10. Role of left cardiac sympathetic denervation in the management of congenital long QT syndrome.

    Directory of Open Access Journals (Sweden)

    Wang L

    2003-01-01

    Full Text Available Congenital long QT syndrome (LQTS is a rare but life-threatening disorder affecting cardiac electrophysiology. It occurs due to mutation in genes encoding for the ion channels in ventricular cell membrane. Syncopal attacks and cardiac arrest are the main symptoms of the disease. Anti-adrenergic therapy with oral beta-blockers has been the mainstay of treatment for LQTS. However, up to 30% of patients fail to respond to medical therapy and remain symptomatic. An alarming 10% of patients still experience cardiac arrest or sudden cardiac death during the course of therapy. Left cardiac sympathetic denervation (LCSD has been used as an alternative therapy in patients who are resistant to beta-blockers. Although LCSD appears effective in reducing the frequency of syncopal attacks and improving the survival rate in both the short and long-term, its use has not gained popularity. The recent advent of minimally invasive thoracoscopic sympathectomy may improve the acceptance of LCSD by physicians and patients in the future. The primary objective of this article was to review the current evidence of the clinical efficacy and safety of LCSD in the management of LQTS. The review was based on Medline search of articles published between 1966 and 2002.

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

    Science.gov (United States)

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

    2014-11-01

    Congenital heart defect (CHD) is common in infants with Down syndrome (DS), which is the principle cause of mortality. However, there is no data available for the frequency and types of CHD in infants with DS in Korea. We investigated the frequency of CHD in infants with DS in Korea. After the survey on birth defects was conducted throughout the country, the prevalence of CHD in DS in 2005-2006 was calculated. This study was conducted based on the medical insurance claims database of the National Health Insurance Corporation. The number of total births in Korea was 888,263 in 2005-2006; of them, 25,975 cases of birth defects were identified. The prevalence of DS was 4.4 per 10,000 total births, accounting for 1.5% of all birth defects. Of the 394 infants with DS, 224 (56.9%) had a CHD. Atrial septal defect was the most common defect accounting for 30.5% of DS followed by ventricular septal defect (19.3%), patent duct arteriosus (17.5%), and atrioventricular septal defect (9.4%). Our study will be helpful to demonstrate the current status of DS and to identify the distribution of CHD in infants with DS in Korea.

  12. Screening for congenital heart defects by transabdominal ultrasound - role of early gestational screening and importance of operator training.

    Science.gov (United States)

    Sarkola, Taisto; Ojala, Tiina H; Ulander, Veli-Matti; Jaeggi, Edgar; Pitkänen, Olli M

    2015-03-01

    The majority of congenital heart defects occur without identifiable risk factors. Detection rates are therefore highly dependent on the experience and expertise of the obstetrical screening operator. In the first trimester, the risk of congenital heart defects increases with increasing nuchal thickness (≥2.5 mm detects 44% of major congenital heart defects), but because of the number of false positives, the positive predictive value is only a few percent. The anatomy of major congenital heart defects may be delineated in less than half of the fetuses during early second trimester. The reported yield of congenital heart defects detection during the mid-gestational routine obstetrical screening has improved over time and detection rates up to 85% of major congenital heart defects have been reported when outflow tract and three-vessel views are included in conjunction with the four-chamber view. Improved detection rates have been achieved following screening operator training interventions combined with a low referral threshold to obtain a detailed fetal echocardiographic study.

  13. BCOR analysis in patients with OFCD and Lenz microphthalmia syndromes, mental retardation with ocular anomalies, and cardiac laterality defects.

    Science.gov (United States)

    Hilton, Emma; Johnston, Jennifer; Whalen, Sandra; Okamoto, Nobuhiko; Hatsukawa, Yoshikazu; Nishio, Juntaro; Kohara, Hiroshi; Hirano, Yoshiko; Mizuno, Seiji; Torii, Chiharu; Kosaki, Kenjiro; Manouvrier, Sylvie; Boute, Odile; Perveen, Rahat; Law, Caroline; Moore, Anthony; Fitzpatrick, David; Lemke, Johannes; Fellmann, Florence; Debray, François-Guillaume; Dastot-Le-Moal, Florence; Gerard, Marion; Martin, Josiane; Bitoun, Pierre; Goossens, Michel; Verloes, Alain; Schinzel, Albert; Bartholdi, Deborah; Bardakjian, Tanya; Hay, Beverly; Jenny, Kim; Johnston, Kathreen; Lyons, Michael; Belmont, John W; Biesecker, Leslie G; Giurgea, Irina; Black, Graeme

    2009-10-01

    Oculofaciocardiodental (OFCD) and Lenz microphthalmia syndromes form part of a spectrum of X-linked microphthalmia disorders characterized by ocular, dental, cardiac and skeletal anomalies and mental retardation. The two syndromes are allelic, caused by mutations in the BCL-6 corepressor gene (BCOR). To extend the series of phenotypes associated with pathogenic mutations in BCOR, we sequenced the BCOR gene in patients with (1) OFCD syndrome, (2) putative X-linked ('Lenz') microphthalmia syndrome, (3) isolated ocular defects and (4) laterality phenotypes. We present a new cohort of females with OFCD syndrome and null mutations in BCOR, supporting the hypothesis that BCOR is the sole molecular cause of this syndrome. We identify for the first time mosaic BCOR mutations in two females with OFCD syndrome and one apparently asymptomatic female. We present a female diagnosed with isolated ocular defects and identify minor features of OFCD syndrome, suggesting that OFCD syndrome may be mild and underdiagnosed. We have sequenced a cohort of males diagnosed with putative X-linked microphthalmia and found a mutation, p.P85L, in a single case, suggesting that BCOR mutations are not a major cause of X-linked microphthalmia in males. The absence of BCOR mutations in a panel of patients with non-specific laterality defects suggests that mutations in BCOR are not a major cause of isolated heart and laterality defects. Phenotypic analysis of OFCD and Lenz microphthalmia syndromes shows that in addition to the standard diagnostic criteria of congenital cataract, microphthalmia and radiculomegaly, patients should be examined for skeletal defects, particularly radioulnar synostosis, and cardiac/laterality defects.

  14. Prickle1 mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects

    Directory of Open Access Journals (Sweden)

    Brian C. Gibbs

    2016-03-01

    Full Text Available Planar cell polarity (PCP is controlled by a conserved pathway that regulates directional cell behavior. Here, we show that mutant mice harboring a newly described mutation termed Beetlejuice (Bj in Prickle1 (Pk1, a PCP component, exhibit developmental phenotypes involving cell polarity defects, including skeletal, cochlear and congenital cardiac anomalies. Bj mutants die neonatally with cardiac outflow tract (OFT malalignment. This is associated with OFT shortening due to loss of polarized cell orientation and failure of second heart field cell intercalation mediating OFT lengthening. OFT myocardialization was disrupted with cardiomyocytes failing to align with the direction of cell invasion into the outflow cushions. The expression of genes mediating Wnt signaling was altered. Also noted were shortened but widened bile ducts and disruption in canonical Wnt signaling. Using an in vitro wound closure assay, we showed Bj mutant fibroblasts cannot establish polarized cell morphology or engage in directional cell migration, and their actin cytoskeleton failed to align with the direction of wound closure. Unexpectedly, Pk1 mutants exhibited primary and motile cilia defects. Given Bj mutant phenotypes are reminiscent of ciliopathies, these findings suggest Pk1 may also regulate ciliogenesis. Together these findings show Pk1 plays an essential role in regulating cell polarity and directional cell migration during development.

  15. Prickle1 mutation causes planar cell polarity and directional cell migration defects associated with cardiac outflow tract anomalies and other structural birth defects.

    Science.gov (United States)

    Gibbs, Brian C; Damerla, Rama Rao; Vladar, Eszter K; Chatterjee, Bishwanath; Wan, Yong; Liu, Xiaoqin; Cui, Cheng; Gabriel, George C; Zahid, Maliha; Yagi, Hisato; Szabo-Rogers, Heather L; Suyama, Kaye L; Axelrod, Jeffrey D; Lo, Cecilia W

    2016-02-16

    Planar cell polarity (PCP) is controlled by a conserved pathway that regulates directional cell behavior. Here, we show that mutant mice harboring a newly described mutation termed Beetlejuice (Bj) in Prickle1 (Pk1), a PCP component, exhibit developmental phenotypes involving cell polarity defects, including skeletal, cochlear and congenital cardiac anomalies. Bj mutants die neonatally with cardiac outflow tract (OFT) malalignment. This is associated with OFT shortening due to loss of polarized cell orientation and failure of second heart field cell intercalation mediating OFT lengthening. OFT myocardialization was disrupted with cardiomyocytes failing to align with the direction of cell invasion into the outflow cushions. The expression of genes mediating Wnt signaling was altered. Also noted were shortened but widened bile ducts and disruption in canonical Wnt signaling. Using an in vitro wound closure assay, we showed Bj mutant fibroblasts cannot establish polarized cell morphology or engage in directional cell migration, and their actin cytoskeleton failed to align with the direction of wound closure. Unexpectedly, Pk1 mutants exhibited primary and motile cilia defects. Given Bj mutant phenotypes are reminiscent of ciliopathies, these findings suggest Pk1 may also regulate ciliogenesis. Together these findings show Pk1 plays an essential role in regulating cell polarity and directional cell migration during development.

  16. Bisphenol A and congenital developmental defects in humans

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-04-15

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

  17. Evaluation of Neurodevelopment and Factors Affecting it in Children With Acyanotic Congenital Cardiac Disease

    Directory of Open Access Journals (Sweden)

    Ayten Ozmen

    2016-01-01

    Full Text Available Background: The rate of congenital heart disease is 0.8% in all live births. The majority of this, however, is acyanotic congenital heart disease. The survival rate of children with cardiac disease has increased with the developments provided in recent years and their lifetime is extended. Objectives: This study aims to evaluate neurodevelopment of children with uncomplicated acyanotic congenital heart disease in preschool period and determine the factors affecting their neurodevelopmental process. Patients and Methods: 132 children with acyanotic congenital heart disease aged 6 - 72 months were involved in the study. Mental development and intelligence levels of patients under 2 years old were assessed by using Bayley Development Scale-III, and Stanford Binet Intelligence test was employed for patients over 2 years old. Denver Developmental Screening Test II was applied to all patients for their personal-social, fine motor, gross motor and language development. Results: The average age of patients (67 girls, 65 boys included in the study was 35.2 ± 19.6 months. It was determined that there were subnormal mental level in 13 (10% patients and at least one specific developmental disorder in 33 (25% patients. Bayley Mental Development Scale score of patients who had received incubator care in perinatal period was found significantly low (88 ± 4.2 compared to those with no incubator care (93.17 ± 8.5 (P = 0.028. Low educational level of father was established to be linked with low mental development scores at the age of 2 and following that age (P < 0.05. Iron deficiency anemia was discovered to be related to low psychometric test scores at every age (P < 0.05. Conclusions: Neurodevelopmental problems in children with acyanotic congenital heart disease were found higher compared to those in society. Mental development and intelligence levels of patients were determined to be closely associated with receiving incubator care, father’s educational

  18. Partnership for the heart. German-Estonian health project for the treatment of congenital heart defects in Estonia.

    Science.gov (United States)

    Köhler, Friedrich; Schierbaum, Clausjürgen; Konertz, Wolfgang; Schneider, Martin; Kern, Hartmut; Int, Eve; Tael, Kristi; Siigur, Urmas; Kleinfeld, Klaus; Bühlmeyer, Konrad; Fotuhi, Parwis; Winter, Stefan Frank

    2005-08-01

    Congenital heart defects (CHD) occur in 8 per 1000 live births. If they remain untreated, 70-80% of these patients die in early childhood. With modern diagnostic and treatment procedures, 90% of these patients reach adulthood. Within 8 years following reunification of Germany, it was possible to improve treatment for CHD in former East Germany to West German standards. Based on the experience gained in this process, a plan for improvement of care of Estonian patients with CHD was developed and implemented in the German-Estonian project, "Partnership for the Heart". The main elements of the project were (1) the training of Estonian physicians in Germany, (2) training courses conducted by German and Estonian specialists in Estonia and (3) use of telemedicine for consultation on a continuous basis. During the project 15 Estonian patients underwent cardiac surgery and/or catheter interventions performed by a joint team of German and Estonian specialists. The infant mortality due to CHD in Estonia fell by 28% during the project period. Key techniques of cardiac surgery are now being employed in Estonia without outside support, indicating the success of the training program and the long-term improvements to cardiac health care in Estonia. The total project costs were 314,252 Euro (euro), which is 50% lower than the estimated cost of treating the 15 patients abroad in Western Europe. The structure of "Partnership for the Heart" and the modified self-sufficiency model of medical care have not only produced results for Estonia but can be taken as a template for future bilateral health projects with other transition countries and for other fields of medical specialisation, and thus might aid a European health policy.

  19. The contribution of chromosomal abnormalities to congenital heart defects: a population-based study.

    Science.gov (United States)

    Hartman, Robert J; Rasmussen, Sonja A; Botto, Lorenzo D; Riehle-Colarusso, Tiffany; Martin, Christa L; Cragan, Janet D; Shin, Mikyong; Correa, Adolfo

    2011-12-01

    We aimed to assess the frequency of chromosomal abnormalities among infants with congenital heart defects (CHDs) in an analysis of population-based surveillance data. We reviewed data from the Metropolitan Atlanta Congenital Defects Program, a population-based birth-defects surveillance system, to assess the frequency of chromosomal abnormalities among live-born infants and fetal deaths with CHDs delivered from January 1, 1994, to December 31, 2005. Among 4430 infants with CHDs, 547 (12.3%) had a chromosomal abnormality. CHDs most likely to be associated with a chromosomal abnormality were interrupted aortic arch (type B and not otherwise specified; 69.2%), atrioventricular septal defect (67.2%), and double-outlet right ventricle (33.3%). The most common chromosomal abnormalities observed were trisomy 21 (52.8%), trisomy 18 (12.8%), 22q11.2 deletion (12.2%), and trisomy 13 (5.7%). In conclusion, in our study, approximately 1 in 8 infants with a CHD had a chromosomal abnormality. Clinicians should have a low threshold at which to obtain testing for chromosomal abnormalities in infants with CHDs, especially those with certain types of CHDs. Use of new technologies that have become recently available (e.g., chromosomal microarray) may increase the identified contribution of chromosomal abnormalities even further.

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

    LENUS (Irish Health Repository)

    McDonnell, R

    2002-09-01

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

  1. Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects

    Science.gov (United States)

    Redig, Jennifer K.; Fouad, Gameil T.; Babcock, Darcie; Reshey, Benjamin; Feingold, Eleanor; Reeves, Roger H.; Maslen, Cheryl L.

    2014-01-01

    Atrioventricular septal defects (AVSD) are highly heritable, clinically significant congenital heart malformations. Genetic and environmental modifiers of risk are thought to work in unknown combinations to cause AVSD. Approximately 5–10% of simplex AVSD cases carry a missense mutation in CRELD1. However, CRELD1 mutations are not fully penetrant and require interactions with other risk factors to result in AVSD. Vascular endothelial growth factor-A (VEGFA) is a well-characterized modulator of heart valve development. A functional VEGFA polymorphism, VEGFA c.–634C, which causes constitutively increased VEGFA expression, has been associated with cardiac septal defects suggesting it may be a genetic risk factor. To determine if there is an allelic association with AVSD we genotyped the VEGFA c.–634 SNP in a simplex AVSD study cohort. Over-representation of the c.–634C allele in the AVSD group suggested that this genotype may increase risk. Correlation of CRELD1 and VEGFA genotypes revealed that potentially pathogenic missense mutations in CRELD1 were always accompanied by the VEGFA c.–634C allele in individuals with AVSD suggesting a potentially pathogenic allelic interaction. We used a Creld1 knockout mouse model to determine the effect of deficiency of Creld1 combined with increased VEGFA on atrioventricular canal development. Morphogenic response to VEGFA was abnormal in Creld1-deficient embryonic hearts, indicating that interaction between CRELD1 and VEGFA has the potential to alter atrioventricular canal morphogenesis. This supports our hypothesis that an additive effect between missense mutations in CRELD1 and a functional SNP in VEGFA contributes to the pathogenesis of AVSD. PMID:25328912

  2. Allelic Interaction between CRELD1 and VEGFA in the Pathogenesis of Cardiac Atrioventricular Septal Defects

    Directory of Open Access Journals (Sweden)

    Jennifer K. Redig

    2014-03-01

    Full Text Available Atrioventricular septal defects (AVSD are highly heritable, clinically significant congenital heart malformations. Genetic and environmental modifiers of risk are thought to work in unknown combinations to cause AVSD. Approximately 5–10% of simplex AVSD cases carry a missense mutation in CRELD1. However, CRELD1 mutations are not fully penetrant and require interactions with other risk factors to result in AVSD. Vascular endothelial growth factor-A (VEGFA is a well-characterized modulator of heart valve development. A functional VEGFA polymorphism, VEGFA c.-634C, which causes constitutively increased VEGFA expression, has been associated with cardiac septal defects suggesting it may be a genetic risk factor. To determine if there is an allelic association with AVSD we genotyped the VEGFA c.-634 SNP in a simplex AVSD study cohort. Over-representation of the c.-634C allele in the AVSD group suggested that this genotype may increase risk. Correlation of CRELD1 and VEGFA genotypes revealed that potentially pathogenic missense mutations in CRELD1 were always accompanied by the VEGFA c.-634C allele in individuals with AVSD suggesting a potentially pathogenic allelic interaction. We used a Creld1 knockout mouse model to determine the effect of deficiency of Creld1 combined with increased VEGFA on atrioventricular canal development. Morphogenic response to VEGFA was abnormal in Creld1-deficient embryonic hearts, indicating that interaction between CRELD1 and VEGFA has the potential to alter atrioventricular canal morphogenesis. This supports our hypothesis that an additive effect between missense mutations in CRELD1 and a functional SNP in VEGFA contributes to the pathogenesis of AVSD.

  3. Databases for assessing the outcomes of the treatment of patients with congenital and paediatric cardiac disease - the perspective of cardiac surgery

    NARCIS (Netherlands)

    Jacobs, Marshall Lewis; Jacobs, Jeffrey Phillip; Franklin, Rodney C. G.; Mavroudis, Constantine; Lacour-Gayet, Francois; Tchervenkov, Christo I.; Walters, Hal; Bacha, Emile A.; Clarke, David Robinson; Gaynor, J. William; Spray, Thomas L.; Stellin, Giovanni; Ebels, Tjark; Maruszewski, Bohdan; Tobota, Zdzislaw; Kurosawa, Hiromi; Elliott, Martin

    2008-01-01

    This review includes a brief discussion, from the perspective of cardiac surgeons, of the rationale for creation and maintenance of multi-institutional databases of outcomes of congenital heart Surgery, together with a history of the evolution of such databases, a description of the current state of

  4. More on false thrombocytopenias: EDTA-dependent pseudothrombocytopenia associated with a congenital platelet release defect.

    Science.gov (United States)

    Silvestri, F; Masotti, A; Pradella, P; Zaja, F; Barillari, G; De Marco, L

    1996-01-01

    We report herein the case of a 54-year-old woman with a moderate bleeding tendency, diagnosed as an EDTA-dependent pseudothrombocytopenia associated with a congenital platelet release defect. The patient, at the age of 12, had a misleading diagnosis of idiopathic thrombocytopenic purpura and all the recurrent bleeding problems she had during her life were referred to that disease. The recent correct diagnosis of a false thrombocytopenia stimulated further laboratory investigation on the cause of the patient's bleeding tendency with the consequent identification of a congenital platelet deficiency of the arachidonic acid pathway. This finding is of relevant importance for the management of the patient in case of elective surgery or hemorrhagic emergency.

  5. Fabrication of localizing template for extraoral implant in a patient with congenital defect in one ear

    Directory of Open Access Journals (Sweden)

    Susan Mir Mohammad Rezaei

    2014-01-01

    Full Text Available Introduction: The use of osseointegrated extraoral implants for retention of extraoral prostheses, such as ears offers ideal support and retention, and improves patient′s appearance and quality of life. However, the best result may be obtained only by careful planning number, position and orientation of the implants and this article presents a method of making of a surgical stent that is simple, economic and stable during all phases of surgery. Case Report: A 26-year-old male (without any remarkable systemic disorder presented with congenital defect in one ear. An impression was made of congenital defect in left ear, wax pattern of defect and missing ear is made, the wax prosthesis is changed into a clear acrylic resin, and on the other hand an occlusal maxillary splint is also fabricated with clear acrylic resin. The occlusal splint and the acrylic resin ear are joined together using an extraoral bar that is made of proper length of wax and also is checked on patient′s face and processed into a clear acrylic resin. Discussion: By this kind of surgical guide, we can determine the best location of the implants and location of the implants will not compromise to fabricate ear prostheses with ideal form and location. This surgical guide can be used for the pretreatment of radiographic stent.

  6. Prenatal diagnosis of thoracic ectopia cordis by real-time fetal cardiac magnetic resonance imaging and by echocardiography.

    Science.gov (United States)

    Moniotte, Stéphane; Powell, Andrew J; Barnewolt, Carol E; Annese, David; Geva, Tal

    2008-01-01

    Ectopia cordis is a rare congenital defect commonly associated with intra- and extra-cardiac anomalies. This report highlights the complimentary use of echocardiography and cardiac magnetic resonance imaging for detailed prenatal characterization of the anomaly at 23-week gestation.

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

    Science.gov (United States)

    Pauleta, Joana; Melo, Maria Antonieta; Graça, Luís Mendes

    2010-01-01

    Introduction. Although congenital longitudinal fibular deficiency is one of the most common long bone deficiencies, there are few published cases of its prenatal diagnosis. Case report. A right longitudinal deficiency of the fibula associated with tibial shortening, foot equinovalgus, and absence of the fourth and fifth foot rays diagnosed at 22 weeks gestation is described. Sequential ultrasonographic surveillance was performed without obstetric complications. The anomaly was confirmed after birth, and conservative orthopaedic management was decided. Conclusion. Though rarely seen, postaxial longitudinal limb defect may be detected by ultrasound. The correct approach can only be decided after birth, when the functional impact of the anomaly can be fully evaluated. PMID:20592750

  8. Defects of colour vision: A review of congenital and acquired colour vision deficiencies

    Directory of Open Access Journals (Sweden)

    Nabeela Hasrod

    2016-03-01

    Full Text Available Colour vision deficiencies (CVDs can be categorised as being congenital or acquired. Some CVDs are already present at birth, as inherited conditions that are the result of changes at the photo-pigment level and are non-pathological, incurable and do not change over time. Examples are red-green defects which are inherited as an X-linked recessive trait. Acquired CVD develops secondary to ocular and systemic conditions or as a side effect of certain medications or sometimes toxic effects of chemicals, and trauma and ageing can also be important in some CVDs.

  9. Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.

    OpenAIRE

    Dowton, S B; Hing, A V; Sheen-Kaniecki, V; Watson, M. S.

    1997-01-01

    Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2-->qter) is associated with congenital anomalies including multiple vertebral segmentation defects resembling sporadic spondylocostal dysplasia. The child also has unilateral renal agenesis and unilateral fibular aplasia. The association of severe multiple vertebral segmentation defect...

  10. Profile and risk factors for congenital heart defects: A study in a tertiary care hospital

    Science.gov (United States)

    Abqari, Shaad; Gupta, Akash; Shahab, Tabassum; Rabbani, MU; Ali, S Manazir; Firdaus, Uzma

    2016-01-01

    Introduction: Congenital heart defects (CHDs) are an important cause of mortality and morbidity in children representing a major global health burden. It is thus important to determine their prevalence and spectrum and identify risk factors associated with the development of heart defects. Materials and Methods: A case-control study was carried out in the Department of Pediatrics and Center of Cardiology, Jawaharlal Nehru Medical College, Aligarh Muslim University, Aligarh, Uttar Pradesh, India, from February 2014 to August 2015. All patients referred with complaints or clinical examination suggestive of CHDs were further evaluated with echocardiography. On Echocardiography, patients having CHDs were included as cases and those having a normal echocardiographic study were included as controls. Healthy controls were also included. 400 cases and 400 controls were thus identified; preterms having patent ductus arteriosus and patent foramen ovale and those with acquired heart defects were excluded. Risk factors among cases and controls were further studied. Results: Acyanotic heart defects were 290 (72.50%) of the total heart defects, whereas the contribution of cyanotic heart defects was 110 (27.50%). Out of all CHDs, ventricular septal defect was the most common lesion with contribution of 152 (38%) cases, whereas among the cyanotic heart defects, Tetralogy of Fallot was the most common lesion (18% of total cases). Out of the total 400 cases, 261 were males (65.25%). On univariate analysis, paternal age (odds ratio, OR, 2.01), bad obstetric history (OR, 2.65), antenatal febrile illness (OR, 4.12), and advanced maternal age (OR, 3.28) were found to increase the risk of CHD whereas intake of multivitamin (OR, 3.02) was found to be protective. The risk factors were further analyzed with multivariate logistic regression analysis and all the above factors were found to be significantly associated. Conclusion: We noted that the profile of CHD in our population was similar

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

    Energy Technology Data Exchange (ETDEWEB)

    Laya, Bernard F. [St. Luke' s Medical Center, Department of Radiology, Quezon (Philippines); Goske, Marilyn J. [The Cleveland Clinic Foundation, Section of Pediatric Radiology, The Children' s Hospital, Cleveland, OH (United States); Children' s Hospital Medical Center of Akron, Department of Radiology, Akron, OH (United States); Morrison, Stuart; Reid, Janet R. [The Cleveland Clinic Foundation, Section of Pediatric Radiology, The Children' s Hospital, Cleveland, OH (United States); Swischuck, Leonard [The University of Texas Medical Branch, Department of Radiology, Galveston, TX (United States); Ey, Elizabeth H. [The Children' s Medical Center, Department of Medical Imaging, Dayton, OH (United States); Murphy, Daniel J. [Stanford University Medical Center, Department of Pediatrics, Palo Alto, CA (United States); Lieber, Michael; Obuchowski, Nancy [The Cleveland Clinic Foundation, Department of Quantitative Health Sciences, Cleveland, OH (United States)

    2006-07-15

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

  12. [Biologically active substances in patients with hypervolemic congenital heart defects undergoing general multicomponent anesthesia].

    Science.gov (United States)

    Gerasimov, N M; Guliamov, D S; Karimova, T Z; Belova, O A; Ivanova, L S; Nam, L N

    1994-01-01

    In 95 patients with hypervolemic congenital heart diseases (42 with interventricular and interatrial septal defects, and 53 with patent ductus arteriosus) mixed venous blood levels of serotonin, histamine, adrenalin, noradrenaline, total 11-hydroxycorticosteroids were studied using spectrofluorimetry, cyclic adenosine- and guanosine-monophosphate (cAMP and cGMP), prostaglandins E+A and F2 alpha and their interaction were assessed using radioimmunoassay and correlation analysis, respectively. Before surgical treatment the patients showed higher (than in the control) concentrations of histamine, adrenalin, noradrenaline, cAMP, and cGMP, prostaglandins E+A. During anesthesia including fentanyl, morphine, diazepam, N2O:O2 in patients with heart valve defects cGMP level was increased and in patients with patent ductus arteriosus cAMP level was increased during analogous anesthesia with morphine replaced by halothane.

  13. An analysis of cardiac defects and surgical interventions in 84 cases with full trisomy 18.

    Science.gov (United States)

    Bruns, Deborah A; Martinez, Alyssa

    2016-02-01

    Trisomy 18 (Edwards syndrome) is the second most common autosomal trisomy after trisomy 21. Medical issues commonly include cardiac defects, such as ventricular septal defect (VSD) and atrial septal defect (ASD). If untreated, these conditions can contribute to the associated infant mortality. The objective of the study was review parent-reported information on 84 cases with full trisomy 18 focusing on prenatal and postnatal assessment and confirmation of cardiac defects and on subsequent treatment with cardiac surgery and post-surgery outcomes. At birth, 65 parent responses indicated the presence of VSD (77.4%), 38 ASD (45.2%), and 50 patent ductus arteriosus (PDA) (59.5%). The presence of multiple cardiac defects was also analyzed including 25 cases with VSD, ASD, and PDA at birth. The total reduced to 18 at survey completion. Twenty-four cases had one or more cardiac defects repaired for a total of 34 corrective surgeries. Age at surgery varied from 2 weeks to 41 months of age with most performed under 1 year of age. Twenty-one cases were still living at the time of survey completion (87.5%). From these date we provide recommendations and implications.

  14. Association between maternal occupational exposure to organic solvents and congenital heart defects, National Birth Defects Prevention Study, 1997–2002

    Science.gov (United States)

    Gilboa, SM; Desrosiers, TA; Lawson, CC; Lupo, PJ; Riehle-Colarusso, T; Stewart, PA; van Wijngaarden, E; Waters, MA; Correa, A

    2015-01-01

    Objective To examine the relation between congenital heart defects (CHDs) in offspring and estimated maternal occupational exposure to chlorinated solvents, aromatic solvents, and Stoddard solvent during the period from one month before conception through the first trimester. Methods The study population included mothers of infants with simple, isolated CHDs and mothers of control infants who delivered from 1997 through 2002 and participated in the National Birth Defects Prevention Study. Two methods to assess occupational solvent exposure were employed: an expert consensus-based approach and a literature-based approach. Multiple logistic regression was used to calculate adjusted odds ratios (OR) and 95% confidence intervals (CI) for the association between solvent classes and CHDs. Results 2,951 control mothers and 2,047 CHD case mothers were included. Using the consensus-based approach, associations were observed for exposure to any solvent and any chlorinated solvent with perimembranous ventricular septal defects (OR 1.6; 95% CI 1.0 to 2.6 and OR 1.7; 95% CI 1.0 to 2.8 respectively). Using the literature-based approach, associations were observed for: any solvent exposure with aortic stenosis (OR 2.1; 95% CI 1.1 to 4.1); and Stoddard solvent exposure with d-transposition of the great arteries (OR 2.0; 95% CI 1.0 to 4.2), right ventricular outflow tract obstruction defects (OR 1.9; 95% CI 1.1 to 3.3), and pulmonary valve stenosis (OR 2.1; 95% CI 1.1 to 3.8). Conclusions We found evidence of associations between occupational exposure to solvents and several types of CHDs. These results should be interpreted in light of the potential for misclassification of exposure. PMID:22811060

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

    Directory of Open Access Journals (Sweden)

    R Abbasi

    2015-03-01

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

  16. MR imaging in congenital complicated anterior body wall defects; MRT von komplizierten angeborenen Bauchwanddefekten

    Energy Technology Data Exchange (ETDEWEB)

    Hoermann, M.; Scharitzer, M. [Universitaetsklinik fuer Radiodiagnostik, AKH-Wien (Austria); Pumberger, W. [Universitaetsklinik fuer Kinderchirurgie, AKH-Wien (Austria); Patzak, B. [Pathologisch-anatomisches Museum im Narrenturm, AKH-Wien (Austria)

    2003-04-01

    Introduction: Aim of this study was to estimate the value of postmortem MR imaging in evaluation of specimen with congenital anterior body wall defects of the museum of pathologic-anatomy. Material and Methods: We examined 19 specimen with a 1.5 Tesla unit by using T{sub 1}- and T{sub 2}-weighted sagittal and coronal sequences. In some specimen additional axial T{sub 2}-weighted images were obtained. We evaluated the site of the bowel, the liver, the heart and presence of associated disorders. Results: The bowels were completely intraabdominal, in two specimen, completely extraabdominal in 12 specimen and in 5 specimen intra- and extraabdominal. The liver was in two specimen completely extraabdominal/in 12 completely intracorporal, and in 5 specimen intra- and extraabdominal. In 5 cases the heart was located extraanatomically. In 12 specimen we found disorders of the spine and the extremities. Congenital disorders of the kidneys were found in 6 specimen. Conclusion: MR imaging is of great value in the assessment of congenital anterior body wall defects. In the light of ultrafast sequences the role of fetal MR imaging in the evaluation of congenital body wall defects may be mandatory in the future. (orig.) [German] Einleitung: Wir nutzten die Sammlung des pathologisch-anatomischen Museums in Wien, um die Wertigkeit der MRT zur Beschreibung von angeborenen vorderen Bauchwanddefekten und deren assoziierten Erkrankungen zu bestimmen. Material und Methode: Wir untersuchten 19 Exponate mit einem 1,5-Tesla-Geraet unter Verwendung von sagittalen und koronalen T{sub 1}- und T{sub 2}-gewichteten Sequenzen. Ausgewertet wurden die Lage des Darmes, der Leber, des Herzens und assoziierte Missbildungen. Ergebnisse: Der Darm lag in zwei Faellen intraabdominal, zur Gaenze extraabdominal in 12 Faellen, intra- und extraabdominal in 5 Faellen. Die Leber war in zwei Exponaten zur Gaenze extraabdominal, in 5 intra- und extraabdominal und in 12 Exponaten intraabdominal. Assoziiert waren

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-08-15

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

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

    Energy Technology Data Exchange (ETDEWEB)

    Secchi, F., E-mail: francescosecchimd@gmail.com [Scuola di Specializzazione in Radiodiagnostica, Universita degli Studi di Milano, Milan (Italy); Di Leo, G. [S.C. di Radiologia, IRCCS Policlinico San Donato, San Donato Milanese, Milan (Italy); Papini, G.D.E. [Scuola di Specializzazione in Radiodiagnostica, Universita degli Studi di Milano, Milan (Italy); Nardella, V.G. [Facolta di Medicina e Chirurgia, Universita degli Studi di Milano, Milan (Italy); Negura, D.; Carminati, M. [S.C. di Cardiologia Pediatrica, IRCCS Policlinico San Donato, San Donato Milanese, Milan (Italy); Sardanelli, F. [S.C. di Radiologia, IRCCS Policlinico San Donato, San Donato Milanese, Milan (Italy); Dipartimento di Scienze Medico-Chirurgiche, Universita degli Studi di Milano, Milan (Italy)

    2011-08-15

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

  19. Incidence and risk factors of nosocomial infections after cardiac surgery in Georgian population with congenital heart diseases.

    Science.gov (United States)

    Lomtadze, M; Chkhaidze, M; Mgeladze, E; Metreveli, I; Tsintsadze, A

    2010-01-01

    Nosocomial infections still remain a serious problem in patients undergoing open heart surgery. The aim of the study was to determine the incidence, etiology and main risk factors of nosocomial infections (NI) following cardiac surgery in congenital heart diseases population. Retrospective case study was conducted. 387 patients with congenital heart disease (CHD), who underwent cardiac surgery from January 2007 to December 2008 were studied. The age of the most patients varied between 1 day to 15 years, 73 patients (18,8%) were older than 15 years. All 387 patients underwent cardiac surgery. The rate of NI was 16%. The most common infections were bloodstream infections (BSI) (7,75%) and respiratory tract infections (7%) respectively. The rate of NI was higher in patients under 1 year of age, after urgent surgery and urgent reoperation, long cardiopulmonary bypass (CPB) and aortic cross-clamp time, also in patients with prolonged mechanical ventilation, massive haemotransfusion, with open heart bone after surgery, reintubation, hospitalization in another hospital during last three month. It was concluded that the most common nosocomial infection after cardiac surgery congenital heart diseases in Georgian population was blood stream infection. The main risk factors of NI in the same setting were age under 1 year, urgent surgery, urgent reoperation, long CPB and aortic cross-clamp time, long duration of mechanical ventilation, massive haemotransfusion, open heart bone after surgery, reintubation, hospitalization in another hospital during last three month.

  20. Cardiac manifestations of Pallister-Killian syndrome.

    Science.gov (United States)

    Tilton, Richard K; Wilkens, Alisha; Krantz, Ian D; Izumi, Kosuke

    2014-05-01

    Pallister-Killian syndrome (PKS) is a sporadic multisystem genetic diagnosis characterized by facial dysmorphia, variable developmental delay and intellectual impairment, hypotonia, hearing loss, seizures, differences in skin pigmentation, temporal alopecia, diaphragmatic hernia, congenital heart defects, and other systemic abnormalities. Although congenital heart defects have been described in association with PKS, the full spectrum of heart disease is still not entirely known. Here, we describe the pattern of cardiac findings of 81 probands with PKS who have had at least one cardiac evaluation, demonstrating structural heart difference in 37% of our cohort (n = 30). Septal defects such as atrial or ventricular septal defects (n = 12) were the most commonly seen congenital heart differences. Additional findings included the occasional occurrence of bicuspid aortic valve, aortic dilatation, and cardiac hypertrophy/cardiomyopathy. We suggest cardiac evaluation for all individuals with PKS at the time of diagnosis as well as subsequent longitudinal follow-up to monitor for the development of cardiomyopathy and aortic dilatation.

  1. Rare variants in NR2F2 cause congenital heart defects in humans.

    Science.gov (United States)

    Al Turki, Saeed; Manickaraj, Ashok K; Mercer, Catherine L; Gerety, Sebastian S; Hitz, Marc-Phillip; Lindsay, Sarah; D'Alessandro, Lisa C A; Swaminathan, G Jawahar; Bentham, Jamie; Arndt, Anne-Karin; Louw, Jacoba; Low, Jacoba; Breckpot, Jeroen; Gewillig, Marc; Thienpont, Bernard; Abdul-Khaliq, Hashim; Harnack, Christine; Hoff, Kirstin; Kramer, Hans-Heiner; Schubert, Stephan; Siebert, Reiner; Toka, Okan; Cosgrove, Catherine; Watkins, Hugh; Lucassen, Anneke M; O'Kelly, Ita M; Salmon, Anthony P; Bu'lock, Frances A; Granados-Riveron, Javier; Setchfield, Kerry; Thornborough, Chris; Brook, J David; Mulder, Barbara; Klaassen, Sabine; Bhattacharya, Shoumo; Devriendt, Koen; Fitzpatrick, David F; Wilson, David I; Mital, Seema; Hurles, Matthew E

    2014-04-01

    Congenital heart defects (CHDs) are the most common birth defect worldwide and are a leading cause of neonatal mortality. Nonsyndromic atrioventricular septal defects (AVSDs) are an important subtype of CHDs for which the genetic architecture is poorly understood. We performed exome sequencing in 13 parent-offspring trios and 112 unrelated individuals with nonsyndromic AVSDs and identified five rare missense variants (two of which arose de novo) in the highly conserved gene NR2F2, a very significant enrichment (p = 7.7 × 10(-7)) compared to 5,194 control subjects. We identified three additional CHD-affected families with other variants in NR2F2 including a de novo balanced chromosomal translocation, a de novo substitution disrupting a splice donor site, and a 3 bp duplication that cosegregated in a multiplex family. NR2F2 encodes a pleiotropic developmental transcription factor, and decreased dosage of NR2F2 in mice has been shown to result in abnormal development of atrioventricular septa. Via luciferase assays, we showed that all six coding sequence variants observed in individuals significantly alter the activity of NR2F2 on target promoters.

  2. Early pregnancy exposure to antihistamines and risk of congenital heart defects : results of two case-control studies

    NARCIS (Netherlands)

    Smedts, Huberdina P. M.; de Jonge, Linda; Bandola, Sarah J. G.; Baardman, Marlies E.; Bakker, Marian K.; Stricker, Bruno H. C.; Steegers-Theunissen, Regine P. M.

    2014-01-01

    UNLABELLED: We aimed to study the association between use of antihistamines in early pregnancy and congenital heart defects (CHD) in the offspring. DESIGN: Two case-control studies. SETTING: HAVEN study, Erasmus MC, University Medical Centre, Rotterdam, and Eurocat Northern Netherlands (NNL), Univer

  3. High maternal vitamin E intake by diet or supplements is associated with congenital heart defects in the offspring

    NARCIS (Netherlands)

    Smedts, H. P. M.; de Vries, J. H.; Rakhshandehroo, M.; Wildhagen, M. F.; Verkleij-Hagoort, A. C.; Steegers, E. A.; Steegers-Theunissen, R. P. M.

    2009-01-01

    To study associations between maternal dietary and supplement intake of antioxidants vitamin E, retinol and congenital heart defects (CHDs). Case-control study. Erasmus MC, University Medical Center Rotterdam, the Netherlands. Participants were 276 case mothers of a child with CHD and 324 control mo

  4. High maternal vitamin E intake by diet or supplements is associated with congenital heart defects in the offspring

    NARCIS (Netherlands)

    Smedts, H.P.M.; Vries, de J.H.M.; Rakhshandehroo, M.; Wildhagen, M.F.; Verkleij-Hagoort, A.C.; Steegers, E.A.P.; Steegers-Theunissen, R.P.M.

    2009-01-01

    Objective To study associations between maternal dietary and supplement intake of antioxidants vitamin E, retinol and congenital heart defects (CHDs). Design Case–control study. Setting Erasmus MC, University Medical Center Rotterdam, the Netherlands. Population Participants were 276 case mothers of

  5. Maternal intake of fat, riboflavin and nicotinamide and the risk of having offspring with congenital heart defects

    NARCIS (Netherlands)

    Smedts, H.P.M.; Rakhshandehroo, M.; Verkleij-Hagoort, A.C.; Vries, de J.H.M.; Ottenkamp, J.; Steegers, E.A.P.; Steegers-Theunissen, R.P.M.

    2008-01-01

    With the exception of studies on folic acid, little evidence is available concerning other nutrients in the pathogenesis of congenital heart defects (CHDs). Fatty acids play a central role in embryonic development, and the B-vitamins riboflavin and nicotinamide are co-enzymes in lipid metabolism. Ai

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1993-12-31

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

  7. Screening and Characterization of Spontaneous Porcine Congenital Heart Defects for Gene Identification and Models of Human Disease

    Science.gov (United States)

    Background: Rodent models of human congenital birth defects have been instrumental for gene discovery and investigation of mechanisms of disease. However, these models are limited by their small size making practiced intervention or detailed anatomic evaluation difficult. Swine have similar anato...

  8. Congenital hypertrophic cardiomyopathy, cataract, mitochondrial myopathy and defective oxidative phosphorylation in two siblings with Sengers-like syndrome.

    NARCIS (Netherlands)

    Morava, E.; Sengers, R.C.A.; Laak, H.J. ter; Heuvel, L.P.W.J. van den; Janssen, A.; Trijbels, J.M.F.; Cruysberg, H.; Boelen, C.; Smeitink, J.A.M.

    2004-01-01

    We describe two siblings with a Sengers-like syndrome, who presented with congenital hypertrophic cardiomyopathy, infantile cataract, mitochondrial myopathy, lactic acidosis and normal mental development. A mitochondrial adenine nucleotide translocator 1 (ANT1) defect was detected since the ANT1 pro

  9. THE ROLE OF PHYSICAL THERAPY IN DIMINISHING THE EFFECTS OF THE CONGENITAL HEART DEFECT - CASE STUDY

    Directory of Open Access Journals (Sweden)

    Croitoru Ramona

    2014-03-01

    Full Text Available In ROMANIA, fetal abnormalities are the cause of 20-30% of infant mortality, being second only to prematurity - 53% in 2005. The restriction of the fetal growth represents the main cause for intrauterine fetal death (60-70%, and the second cause of neonatal deaths - 41%. Perinatal mortality is caused by 6 obstetrical complications: prematurity, multiple pregnancy, pregnancy-induced hypertension, uteroplacental apoplexy, placenta praevia, pelvic presentation. The termination of pregnancy for prenatally diagnosed fetal abnormalities is excluded from the perinatal mortality statistics, according to the epidemiological information. The motivation for choosing a physical therapy intervention in the case of the pediatric congenital heart defect is represented by its number of pediatric cases, and by the problems confronted by the medical teams, the professional literature not being always very clear about the situations encountered in the everyday practice. As the number of congenital heart and blood vessels defects is the highest among pediatric cardiovascular pathologies, they represent a field of maximum interest for rehabilitation in pediatric cardiology.Several modern medicine studies show that physical therapy plays an important role in the rehabilitation of cardiovascular patients.Starting from several cases we researched in relation to our theme, but also from the consulted professional literature, we chose this theme to highlight the importance of this malformative syndrome, and the difficulties that can appear during functional rehabilitation.In conclusion, the results obtained after conducting this study allow us to say that our hypotheses, stating that through a correct and complete assessment of the motor potential one can intervene, using physical therapy means, to reestablish a lost function, and by selecting correctly the means and methods based on the extremely complex diagnosis of the case study, one can contribute to the improvement

  10. Predictors of postnatal complications and congenital cardiac diseases in infants of mothers with pregestational and gestational diabetes

    Science.gov (United States)

    Demirpençe, Savaş; Demirpençe, Banu İnce; Meşe, Timur; Arslanoğlu, Sertaç; Tavlı, Vedide; Çalkavur, Şebnem; Olukman, Özgür; Firuzan, Ali Rıza

    2014-01-01

    Aim: In this study, we aimed to evaluate the postnatal problems of infants of mothers with pregestational and gestational diabetes and the clinical properties of infants who were found to have congenital cardiac disease. Material and Methods: We retrospectively examined the records of 337 newborns who were followed up with a diagnosis of infant of diabetic mother between January 2010 and January 2012 in our Neonatology Unit. The demographic data of the diabetic mothers and their babies, the postnatal problems of the babies of diabetic mothers and congenital heart diseases found on transthoracic echocardiography were examined. Results: The patients were classified as group A, B and C in accordance with the recommendations of The American Congress of Obstetricians and Gynecologists (ACOG) according to the type of diabetes. The most common postnatal problems included hyperbilirubinemia, respiratory distress, hypoglycemia and hypocalcemia. The rate of congenital heart disease was found be 17.3% in group A, 50% in group B and 9% in group C. No correlation was found between congenital heart disease and gender, multiple pregnancy, diabetes type, diet treatment, use of oral antidiabetic drugs and drug usage. A positive significant correlation was found between congenital heart disease and genetic disease, murmur, cyanosis and presence of gestational hypertension. It was shown that use of insulin, genetic disease and presence of gestational diabetes increased the risk of congenital heart disease. Conclusions: In our study, the overall incidence of congenital heart disease was found to be 24% in infants of diabetic mothers. It should be kept in mind that it is important to investigate the infants of mothers with pregestational and gestational diabetes in terms of the risk of congenital heart disease. PMID:26078681

  11. Defective branched chain amino acid catabolism contributes to cardiac dysfunction and remodeling following myocardial infarction.

    Science.gov (United States)

    Wang, Wei; Zhang, Fuyang; Xia, Yunlong; Zhao, Shihao; Yan, Wenjun; Wang, Helin; Lee, Yan; Li, Congye; Zhang, Ling; Lian, Kun; Gao, Erhe; Cheng, Hexiang; Tao, Ling

    2016-11-01

    Cardiac metabolic remodeling is a central event during heart failure (HF) development following myocardial infarction (MI). It is well known that myocardial glucose and fatty acid dysmetabolism contribute to post-MI cardiac dysfunction and remodeling. However, the role of amino acid metabolism in post-MI HF remains elusive. Branched chain amino acids (BCAAs) are an important group of essential amino acids and function as crucial nutrient signaling in mammalian animals. The present study aimed to determine the role of cardiac BCAA metabolism in post-MI HF progression. Utilizing coronary artery ligation-induced murine MI models, we found that myocardial BCAA catabolism was significantly impaired in response to permanent MI, therefore leading to an obvious elevation of myocardial BCAA abundance. In MI-operated mice, oral BCAA administration further increased cardiac BCAA levels, activated the mammalian target of rapamycin (mTOR) signaling, and exacerbated cardiac dysfunction and remodeling. These data demonstrate that BCAAs act as a direct contributor to post-MI cardiac pathologies. Furthermore, these BCAA-mediated deleterious effects were improved by rapamycin cotreatment, revealing an indispensable role of mTOR in BCAA-mediated adverse effects on cardiac function/structure post-MI. Of note, pharmacological inhibition of branched chain ketoacid dehydrogenase kinase (BDK), a negative regulator of myocardial BCAA catabolism, significantly improved cardiac BCAA catabolic disorders, reduced myocardial BCAA levels, and ameliorated post-MI cardiac dysfunction and remodeling. In conclusion, our data provide the evidence that impaired cardiac BCAA catabolism directly contributes to post-MI cardiac dysfunction and remodeling. Moreover, improving cardiac BCAA catabolic defects may be a promising therapeutic strategy against post-MI HF.

  12. A rare case of cardiac anomaly: prenatally diagnosed ectopia cordis

    OpenAIRE

    Çelik, Yalçın; Hallıoğlu, Olgu; Basut, Nursel; Demetgül, Hasan; Esin Kibar, A.

    2015-01-01

    Ectopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity. The estimated prevalence of ectopia cordis is 5.5–7.9 per million births and it comprises 0.1% of congenital heart diseases. Ectopia cordis is associated with other congenital heart diseases and various tissue and organ disorders. Common cardiac anomalies associated with ectopia cordis include ventricular septal defect, atrial septal defect, pulmonary stenosis, righ...

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

    Energy Technology Data Exchange (ETDEWEB)

    Erol, Cengiz, E-mail: drcengizerol@yahoo.com [Selcuk University, Selcuklu Faculty of Medicine, Department of Radiology, Alaeddin Keykubat Central Campus, Selcuklu, 42250 Konya (Turkey); Koplay, Mustafa, E-mail: koplaymustafa@hotmail.com [Selcuk University, Selcuklu Faculty of Medicine, Department of Radiology, Alaeddin Keykubat Central Campus, Selcuklu, 42250 Konya (Turkey); Olcay, Ayhan, E-mail: drayhanolcay@gmail.com [29 May Hospital, Department of Cardiology, Vatan Street, Fatih, 34150 Istanbul (Turkey); Kivrak, Ali Sami, E-mail: alisamikivrak@hotmail.com [Selcuk University, Selcuklu Faculty of Medicine, Department of Radiology, Alaeddin Keykubat Central Campus, Selcuklu, 42250 Konya (Turkey); Ozbek, Seda, E-mail: dsadr@hotmail.com [Selcuk University, Selcuklu Faculty of Medicine, Department of Radiology, Alaeddin Keykubat Central Campus, Selcuklu, 42250 Konya (Turkey); Seker, Mehmet, E-mail: hikmet.irfan@hotmail.com [29 May Hospital, Department of Radiology, Vatan Street, Fatih, 34150 Istanbul (Turkey); Paksoy, Yahya, E-mail: yahyapaksoy@yahoo.com [Selcuk University, Selcuklu Faculty of Medicine, Department of Radiology, Alaeddin Keykubat Central Campus, Selcuklu, 42250 Konya (Turkey)

    2012-11-15

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

  14. Serum NT-proBNP Levels Are Not Related to Vitamin D Status in Young Patients with Congenital Heart Defects

    Directory of Open Access Journals (Sweden)

    E. Passeri

    2016-01-01

    Full Text Available Context. Hypovitaminosis D frequently occurs in early life and increases with age. Vitamin D has been suggested to influence cardiac performance and N-terminal-pro-type B natriuretic peptide (NT-proBNP release in adults with heart failure. Objectives. To assess the vitamin D status and the impact of hypovitaminosis D on circulating NT-proBNP levels in young patients with congenital heart defects (CHD. Design and Patients. This cross-sectional study included the assessment of serum 25-hydroxyvitamin D (25OHD, parathyroid function markers, and NT-proBNP levels in a series of 230 young in-patients (117 females, 113 males; 6.4 (4.0–9.1 years (median, interquartile range with CHD. Results. Serum 25OHD levels 30 ng/mL occurred in 25% of patients. Serum 25OHD levels inversely correlated with age (r=-0.169, P=0.013 and height standard deviation score (r=-0.269, P=0.001. After correction for age, 25OHD negatively correlated with serum PTH levels (β=-0.200, P=0.002. PTH levels above the upper quartile (44 pg/mL occurred in 32% of hypovitaminosis D patients. Serum NT-proBNP levels were not correlated with 25OHD and PTH levels. Conclusions. Half of the young CHD patients were diagnosed with 25OHD deficiency and a third of hypovitaminosis D patients experienced hyperparathyroidism. Nonetheless, serum NT-proBNP levels were not associated with hypovitaminosis D as well as hyperparathyroidism.

  15. Chromosome 18q22.2-->qter deletion and a congenital anomaly syndrome with multiple vertebral segmentation defects.

    Science.gov (United States)

    Dowton, S B; Hing, A V; Sheen-Kaniecki, V; Watson, M S

    1997-05-01

    Multiple vertebral segmentation defects occur in a group of conditions variably associated with anomalies of other organ systems. This report describes a female child in whom a deletion of chromosome 18 (18q22.2-->qter) is associated with congenital anomalies including multiple vertebral segmentation defects resembling sporadic spondylocostal dysplasia. The child also has unilateral renal agenesis and unilateral fibular aplasia. The association of severe multiple vertebral segmentation defects with 18q- in this patient suggests the possibility that a gene important for somite formation or vertebral differentiation maps to this segment of chromosome 18.

  16. [Permanent cardiac stimulation in a patient with isolated dextrocardia and ventricular septal defect].

    Science.gov (United States)

    Słowiński, S; Derlaga, B; Kapusta, J

    A case of pacemaker implantation because of acquired atrioventricular block third degree in woman aged 39 years with rare isolated dextrocardia with inversion of cardiac ventricles, compensatory transposition of both aorta and pulmonary artery, and ventricular septal defect. The end of electrode has wedged in the apex of the arterial ventricle. Following pacemaker implantation, patients clinical course of gynaecological operation was uneventful.

  17. Genetic abnormalities in FOXP1 are associated with congenital heart defects.

    Science.gov (United States)

    Chang, Sheng-Wei; Mislankar, Mona; Misra, Chaitali; Huang, Nianyuan; Dajusta, Daniel G; Harrison, Steven M; McBride, Kim L; Baker, Linda A; Garg, Vidu

    2013-09-01

    The etiology for the majority of congenital heart defects (CHD) is unknown. We identified a patient with unbalanced atrioventricular septal defect (AVSD) and hypoplastic left ventricle who harbored an ~0.3 Mb monoallelic deletion on chromosome 3p14.1. The deletion encompassed the first four exons of FOXP1, a gene critical for normal heart development that represses cardiomyocyte proliferation and expression of Nkx2.5. To determine whether FOXP1 mutations are found in patients with CHD, we sequenced FOXP1 in 82 patients with AVSD or hypoplastic left heart syndrome. We discovered two patients who harbored a heterozygous c.1702C>T variant in FOXP1 that predicted a potentially deleterious substitution of a highly conserved proline (p.Pro568Ser). This variant was not found in 287 controls but is present in dbSNP at a 0.2% frequency. The orthologous murine Foxp1 p.Pro596Ser mutant protein displayed deficits in luciferase reporter assays and resulted in increased proliferation and Nkx2.5 expression in cardiomyoblasts. Our data suggest that haploinsufficiency of FOXP1 is associated with human CHD.

  18. Detection of chromosomal abnormalities and the 22q11 microdeletion in fetuses with congenital heart defects.

    Science.gov (United States)

    Lv, Wei; Wang, Shuyu

    2014-11-01

    Chromosomal abnormalities and the 22q11 microdeletion are implicated in congenital heart defects (CHDs). This study was designed to detect these abnormalities in fetuses and determine the effect of genetic factors on CHD etiology. Between January 2010 and December 2011, 113 fetuses with CHD treated at the Beijing Obstetrics and Gynecology Hospital were investigated, using chromosome karyotyping of either amniotic fluid cell or umbilical cord blood cell samples. Fetuses with a normal result were then investigated for the 22q11 microdeletion by fluorescence in situ hybridization. Of the 113 patients, 12 (10.6%) exhibited chromosomal abnormalities, while 6 (5.3%) of the remaining 101 cases presented with a 22q11 microdeletion. The incidence of chromosomal abnormalities was significantly higher in the group of fetuses presenting with extracardiac malformations in addition to CHD (Pdefects, additional chromosomal analysis is required to detect extracardiac abnormalities. Fetuses with heart defects should also be considered for 22q11 microdeletion detection to evaluate fetal prognosis, particularly prior to surgery.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-12-31

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

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

    Science.gov (United States)

    Ozer, Pinar A; Yalniz-Akkaya, Zuleyha

    2015-07-01

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

  1. Is there any association between childhood cardiac septal defects and ROCK2 gene polymorphism?

    Science.gov (United States)

    Aksoy, M; Uygun, H; Baspinar, O; Demiryurek, S; Oztuzcu, S; Cengiz, B; Irdem, A; Araz, N C

    2014-03-17

    Rho/Rho-kinase pathway plays a critical role in the regulation of cellular functions such as proliferation and migration. One of the possible theories of the development of ventricular septal defects is cell migration disorder. The aim of this study was to analyze the genotype distributions and allele frequencies for the ROCK2 gene Thr431Asn polymorphisms in the development of cardiac septal defects in a Turkish population. In this case-control study, 300 patients with cardiac defects (150 patients with ventricular and 150 patients with atrial septal defects) and control group (150 healthy control subjects) were investigated. A single-nucleotide polymorphism in ROCK2 gene Thr431Asn was analyzed by real-time PCR using a Light-Cycler. Neither genotype distributions nor the allele frequencies for the Thr431Asn polymorphism showed a significant difference between the groups. These results suggest that there is no association of the ROCK2 gene Thr431Asn polymorphism with the development of cardiac septal defects in pediatric patients.

  2. Autosomal and X chromosome structural variants are associated with congenital heart defects in Turner syndrome: The NHLBI GenTAC registry.

    Science.gov (United States)

    Prakash, Siddharth K; Bondy, Carolyn A; Maslen, Cheryl L; Silberbach, Michael; Lin, Angela E; Perrone, Laura; Limongelli, Giuseppe; Michelena, Hector I; Bossone, Eduardo; Citro, Rodolfo; Lemaire, Scott A; Body, Simon C; Milewicz, Dianna M

    2016-12-01

    Turner Syndrome (TS) is a developmental disorder caused by partial or complete loss of one sex chromosome. Bicuspid aortic valve and other left-sided congenital heart lesions (LSL), including thoracic aortic aneurysms and acute aortic dissections, are 30-50 times more frequent in TS than in the general population. In 454 TS subjects, we found that LSL are significantly associated with reduced dosage of Xp genes and increased dosage of Xq genes. We also showed that genome-wide copy number variation is increased in TS and identify a common copy number variant (CNV) in chromosome 12p13.31 that is associated with LSL with an odds ratio of 3.7. This CNV contains three protein-coding genes (SLC2A3, SLC2A14, and NANOGP1) and was previously implicated in congenital heart defects in the 22q11 deletion syndrome. In addition, we identified a subset of rare and recurrent CNVs that are also enriched in non-syndromic BAV cases. These observations support our hypothesis that X chromosome and autosomal variants affecting cardiac developmental genes may interact to cause the increased prevalence of LSL in TS. © 2016 Wiley Periodicals, Inc.

  3. Type 2 diabetes mellitus induces congenital heart defects in murine embryos by increasing oxidative stress, endoplasmic reticulum stress, and apoptosis

    Science.gov (United States)

    Wu, Yanqing; Reece, E. Albert; Zhong, Jianxiang; Dong, Daoyin; Shen, Wei-Bin; Harman, Christopher R.; Yang, Peixin

    2017-01-01

    BACKGROUND Maternal type 1 and 2 diabetes mellitus are strongly associated with high rates of severe structural birth defects, including congenital heart defects. Studies in type 1 diabetic embryopathy animal models have demonstrated that cellular stress-induced apoptosis mediates the teratogenicity of maternal diabetes leading to congenital heart defect formation. However, the mechanisms underlying maternal type 2 diabetes mellitus–induced congenital heart defects remain largely unknown. OBJECTIVE We aim to determine whether oxidative stress, endoplasmic reticulum stress, and excessive apoptosis are the intracellular molecular mechanisms underlying maternal type 2 diabetes mellitus–induced congenital heart defects. STUDY DESIGN A mouse model of maternal type 2 diabetes mellitus was established by feeding female mice a high-fat diet (60% fat). After 15 weeks on the high-fat diet, the mice showed characteristics of maternal type 2 diabetes mellitus. Control dams were either fed a normal diet (10% fat) or the high-fat diet during pregnancy only. Female mice from the high-fat diet group and the 2 control groups were mated with male mice that were fed a normal diet. At E12.5, embryonic hearts were harvested to determine the levels of lipid peroxides and superoxide, endoplasmic reticulum stress markers, cleaved caspase 3 and 8, and apoptosis. E17.5 embryonic hearts were harvested for the detection of congenital heart defect formation using India ink vessel patterning and histological examination. RESULTS Maternal type 2 diabetes mellitus significantly induced ventricular septal defects and persistent truncus arteriosus in the developing heart, along with increasing oxidative stress markers, including superoxide and lipid peroxidation; endoplasmic reticulum stress markers, including protein levels of phosphorylated-protein kinase RNA-like endoplasmic reticulum kinase, phosphorylated-IRE1α, phosphorylated-eIF2α, C/EBP homologous protein, and binding immunoglobulin

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

    Science.gov (United States)

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

    2016-03-01

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

  5. Platelet abnormalities in adults with severe pulmonary arterial hypertension related to congenital heart defects (Eisenmenger syndrome).

    Science.gov (United States)

    Remková, Anna; Šimková, Iveta; Valkovičová, Tatiana; Kaldarárová, Monika

    2016-12-01

    Patients with severe pulmonary arterial hypertension suffer from life-threatening thrombotic and bleeding complications. The aim of this study was to compare selected platelet, endothelial, and coagulation parameters in healthy volunteers and patients with severe pulmonary arterial hypertension because of congenital heart defects. The study included healthy volunteers (n = 50) and patients with cyanotic congenital heart defects classified as Eisenmenger syndrome (n = 41). We investigated platelet count, mean platelet volume, and platelet aggregation - spontaneous and induced by various concentrations of five agonists. Von Willebrand factor (vWF), fibrinogen, factor VIII and XII, plasminogen activator inhibitor, antithrombin, D-dimer, and antiphospholipid antibodies were also investigated. We found a decreased platelet count [190 (147-225) vs. 248 (205-295) 10 l, P < 0.0001], higher mean platelet volume [10.9 (10.1-12.0) vs. 10.2 (9.4-10.4) fl, P < 0.0001], and significantly decreased platelet aggregation (induced by five agonists, in various concentrations) in patients with Eisenmenger syndrome compared with controls. These changes were accompanied by an increase of plasma vWF antigen [141.6 (108.9-179.1) vs. 117.4 (9.2-140.7) IU/dl, P = 0.022] and serum anti-β2-glycoprotein [2.07 (0.71-3.41) vs. 0.47 (0.18-0.99) U/ml, P < 0.0001]. Eisenmenger syndrome is accompanied by platelet abnormalities. Thrombocytopenia with increased platelet size is probably due to a higher platelet turnover associated with platelet activation. Impaired platelet aggregation can reflect specific platelet behaviour in patients with Eisenmenger syndrome. These changes can be related both to bleeding and to thrombotic events. A higher vWF antigen may be a consequence of endothelial damage in Eisenmenger syndrome, but the cause for an increase of anti-β2-glycoprotein is unknown.

  6. Correlations Between Echocardiographic Systolic and Diastolic Function with Cardiac Catheterization in Biventricular Congenital Heart Patients.

    Science.gov (United States)

    Nadorlik, H; Stiver, C; Khan, S; Miao, Y; Holzer, R; Cheatham, J P; Cua, C L

    2016-04-01

    Newer echocardiographic techniques may allow for more accurate assessment of left ventricular (LV) function. Adult studies have correlated these echocardiographic measurements with invasive data, but minimal data exist in the pediatric congenital heart population. Purpose of this study was to evaluate which echocardiographic measurements correlated best with LV systolic and diastolic catheterization parameters. Patients with two-ventricle physiology who underwent simultaneous echocardiogram and cardiac catheterization were included. Images were obtained in the four-chamber view. LV systolic echocardiographic data included ejection fraction, displacement, tissue Doppler imaging (TDI) s' wave, global longitudinal strain, and strain rate (SR) s' wave. Diastolic echocardiographic data included mitral E and A waves, TDI e' and a' waves, and SRe' and SRa' waves. E/TDI e', TDI e'/TDI a', E/SRe', and SRe'/SRa' ratios were also calculated. Catheterization dP/dt was used as a marker for systolic function, and LV end-diastolic pressure (EDP) was used as a marker for diastolic function. Correlations of the echocardiographic and catheterization values were performed using Pearson correlation. Twenty-nine patients were included (14 females, 15 males). Median age at catheterization was 3.4 years (0.04-17.4 years). dP/dt was 1258 ± 353 mmHg/s, and LVEDP was 10.8 ± 2.4 mmHg. There were no significant correlations between catheterization dP/dt and systolic echocardiographic parameters. LVEDP correlated significantly with SRe' (r = -0.4, p = 0.03), SRa' (r = -0.4, p = 0.03), and E/SRe' (r = 0.5, p = 0.004). In pediatric congenital heart patients, catheterization dP/dt did not correlate with echocardiographic measurements of LV systolic function. Further studies are needed to determine which echocardiographic parameter best describes LV systolic function in this population. Strain rate analysis significantly correlated with LVEDP. Strain rate analysis should be considered as an

  7. Atypical atrial septal defects in children: noninvasive evaluation by cardiac MRI

    Energy Technology Data Exchange (ETDEWEB)

    Beerbaum, Philipp; Parish, Victoria; Bell, Aaron [Guy' s and St. Thomas' Hospital, Division of Imaging Sciences, King' s College London, London (United Kingdom); Gieseke, Juergen [Philips Medical Systems, Best (Netherlands); Koerperich, Hermann; Sarikouch, Samir [Ruhr-University of Bochum, Department of Congenital Heart Disease and Institute for Magnetic Resonance Imaging, Heart and Diabetes Centre North Rhine-Westfalia, Bad Oeynhausen (Germany)

    2008-11-15

    Atypical left-to-right shunts at the level of the atrium in children such as sinus venosus atrial septal defects (ASDs) and partial anomalous pulmonary venous return (PAPVR) may be difficult to assess by transthoracic or transoesophageal echocardiography. Free-breathing cardiac MRI may be a powerful alternative. To assess the value of free-breathing cardiac MRI in the delineation of atypical ASDs in children. A total of 82 children (mean age 5.9 years, range 1.1-15.7 years) with suspected ASD and inconclusive transthoracic echocardiography underwent cardiac MRI under free-breathing, mostly sedated conditions. Phase-contrast MRI was used for defect visualization and shunt quantification, and multiphase inflow MR angiography for delineation of pulmonary/systemic venous connections. Of the 82 patients, 34 (41%) were diagnosed with atypical shunt lesions at the level of the atrium and 48 (59%) with simple secundum ASDs. No false-negative or false-positive findings were reported by MRI compared to cardiac catheterization and intraoperative findings. Superior sinus venosus ASD with partial anomalous PAPVR was present in 10 of the 82 children (12.2%), whereas 2 (2.4%) had a large posterior-inferior defect, 5 (6.1%) had isolated PAPVR, and 17 (20.7%) had multiple ASDs and/or associated vascular anomalies. Q{sub p}/Q{sub s} by phase-contrast MRI agreed well with oximetry values (mean difference 3%, limits of agreement {+-}21-25%; Bland/Altman analysis). Free-breathing cardiac MRI under sedation allows reliable identification of atypical left-to-right shunt defects at the level of the atrium in children in whom transcatheter ASD closure is unsuitable, including delineation of pulmonary or systemic venous anomalies and shunt quantification. (orig.)

  8. Consensus on timing of intervention for common congenital heart diseases: part I - acyanotic heart defects.

    Science.gov (United States)

    Rao, P Syamasundar

    2013-01-01

    The purpose of this review/editorial is to discuss how and when to treat the most common acyanotic congenital heart defects (CHD); the discussion of cyanotic heart defects will be presented in a subsequent editorial. By and large, the indications and timing of intervention are decided by the severity of the lesion. Balloon pulmonary valvuloplasty is the treatment of choice for valvar pulmonary stenosis and the indication for intervention is peak-to-peak systolic pressure gradient >50 mmHg across the pulmonary valve. For aortic valve stenosis, balloon aortic valvuloplasty appears to be the first therapeutic procedure of choice; the indications for balloon dilatation of aortic valve are peak-to-peak systolic pressure gradient across the aortic valve in excess of 70 mmHg irrespective of the symptoms or a gradient ≥ 50 mmHg with either symptoms or electrocardiographic ST-T wave changes indicative of myocardial perfusion abnormality. The indications for intervention in coarctation of the aorta are significant hypertension and/or congestive heart failure along with a pressure gradient in excess of 20 mmHg across the coarctation; the type of intervention varies with age at presentation and the anatomy of coarctation: surgical intervention for neonates and young infants, balloon angioplasty for discrete native coarctation in children, and stents in adolescents and adults. Long segment coarctations or those associated with hypoplasia of the isthmus or transverse aortic arch require surgical treatment in younger children and stents in adolescents and adults. For post-surgical aortic recoarctation, balloon angioplasty in young children and stents in adolescents and adults are treatment options. Transcatheter closure methods are currently preferred for ostium secundum atrial septal defects (ASDs); the indications for occlusion are right ventricular volume overload by echocardiogram. Ostium primum, sinus venosus and coronary sinus ASDs require surgical closure. For all ASDs

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

    DEFF Research Database (Denmark)

    Strandberg-Larsen, Katrine; Skov-Ettrup, Lise Skrubbeltrang; Grønbaek, Morten;

    2011-01-01

    BACKGROUND: This cohort study examines the possible association between maternal alcohol intake, including binge drinking, during pregnancy, and the subsequent risk of having a child with an isolated congenital heart defect and, more specifically, with the isolated form of ventricular septal defect...... of alcohol. Few (if any) women with an excessive/abusive intake of alcohol were enrolled into the Danish National Birth Cohort. RESULTS: Through linkage with the National Hospital Discharge Registry, we identified 477 infants with a diagnosis of isolated congenital heart defect registered at any time during...... (VSD) or of an atrial septal defect (ASD). METHODS: Participants were 80,346 pregnant women who were enrolled into the Danish National Birth Cohort in 1996-2002 and gave birth to a live-born singleton without any chromosome anomalies. Twice during pregnancy these women were asked about their intake...

  10. Prostaglandin E1 treatment in ductus dependent congenital cardiac malformation. A review of the treatment of 34 neonates

    DEFF Research Database (Denmark)

    Høst, A; Halken, S; Kamper, J

    1988-01-01

    and safe regiment that could be initiated after clinical diagnosis of a severe duct dependent cardiac defect, whose clinical course would be adversely affected by ductus closure. After an initial dosage of 0.1 micrograms/kg/min, effective clinical improvement was achieved in 28 infants (82%). In all 28...

  11. Breaches of the pial basement membrane are associated with defective dentate gyrus development in mouse models of congenital muscular dystrophies.

    Science.gov (United States)

    Li, Jing; Yu, Miao; Feng, Gang; Hu, Huaiyu; Li, Xiaofeng

    2011-11-07

    A subset of congenital muscular dystrophies (CMDs) has central nervous system manifestations. There are good mouse models for these CMDs that include POMGnT1 knockout, POMT2 knockout and Large(myd) mice with all exhibiting defects in dentate gyrus. It is not known how the abnormal dentate gyrus is formed during the development. In this study, we conducted a detailed morphological examination of the dentate gyrus in adult and newborn POMGnT1 knockout, POMT2 knockout, and Large(myd) mice by immunofluorescence staining and electron microscopic analyses. We observed that the pial basement membrane overlying the dentate gyrus was disrupted and there was ectopia of granule cell precursors through the breached pial basement membrane. Besides these, the knockout dentate gyrus exhibited reactive gliosis in these mouse models. Thus, breaches in the pial basement membrane are associated with defective dentate gyrus development in mouse models of congenital muscular dystrophies.

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

    Directory of Open Access Journals (Sweden)

    M.S. Mabaso

    1990-09-01

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

  13. Genetic knowledge and attitudes of parents of children with congenital heart defects.

    Science.gov (United States)

    Fitzgerald-Butt, Sara M; Klima, Jennifer; Kelleher, Kelly; Chisolm, Deena; McBride, Kim L

    2014-12-01

    Clinical genetic testing for specific isolated congenital heart defects (CHD) is becoming standard of care in pediatric cardiology practice. Both genetic knowledge and attitudes toward genetic testing are associated with an increased utilization of genetic testing, but these factors have not been evaluated in parents of children with CHD. We mailed a survey to measure the demographics, genetic knowledge, and attitudes towards genetic testing of parents of children with CHD who previously consented to participate in a separate research study of the genetic etiology of left ventricular outflow tract malformations (LVOT). Of the 378 eligible families, 190 (50%) returned surveys with both parents completing surveys in 97 (51%) families, resulting in 287 participants. Genetic knowledge was assessed on an adapted measure on which the mean percent correct was 73.8%. Educational attainment and household income were directly and significantly associated with genetic knowledge (P Parents of younger children were less likely to endorse employment or racial/social discrimination. Genetic knowledge was not correlated with specific attitudes. Among parents of children with CHD, genetic knowledge was directly associated with household income and education, but additional research is necessary to determine what factors influence attitudes towards genetic testing.

  14. [Genetics of congenital color vision defects. I. Common types of color blindness].

    Science.gov (United States)

    Krawczyński, M R

    1995-01-01

    Normal human colour vision is based on the presence of 3 kinds of cones containing 3 different visual pigments, sensitive to short (blue), middle (green) and long (red) wavelengths. Congenital defects of colour vision are based on handicap or total loss of these pigments' function, usually a result of changes in their coding genes. The common types of colour blindness, referred to red-green axis, are present in about 8% of males and 0.44% of females. 3/4 of them are deuteranopes or deuteranomalous trichromats and 1/4 of them are protanopes or protanomalous trichromats. All of them are inherited in X-linked recessive way. The genes have been already mapped and sequenced. The cause of the great majority of their changes is nonhomologous recombination, which produces a gene deletion or creates the red-green or green-red hybrid genes. The result of that is the production of visual pigment with partly or totally changed spectral sensitivity.

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

    Science.gov (United States)

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

    2016-05-01

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

  16. Craniosynostosis, ectopia lentis, and congenital heart defects: further delineation of an autosomal dominant syndrome with incomplete penetrance.

    Science.gov (United States)

    Quercia, Nada L; Teebi, Ahmad S

    2002-01-01

    The association of craniosynostosis with ectopia lentis is extremely rare. This was recently reported in monozygotic twin sisters, supporting a genetic etiology for this syndromic association. We report on female first cousins once removed who were born with unilateral coronal synostosis. One cousin also had peripheral pulmonic branch stenosis at birth and was later found to have ectopia lentis and severe myopia. The other cousin had an atrial septal defect, mitral valve prolapse, and only mild myopia. Their intelligence is normal. The inheritance is likely autosomal dominant with variable expression and incomplete penetrance and further defines this syndrome to include congenital heart defects. These findings will have important implications for genetic counseling.

  17. Health-related quality of life experienced by children with chromosomal abnormalities and congenital heart defects.

    Science.gov (United States)

    Garcia Guerra, Gonzalo; Joffe, Ari R; Robertson, Charlene M T; Atallah, Joseph; Alton, Gwen; Sauve, Reg S; Dinu, Irina A; Ross, David B; Rebeyka, Ivan M

    2014-03-01

    Long-term outcomes are fundamental in advising parents about the potential future of their children with congenital heart disease (CHD). No published reports have described the health-related quality of life (HRQL) experienced by children with chromosomal abnormalities who had surgery in early infancy for CHD. A study was undertaken to assess HRQL among children with chromosomal abnormalities and CHD. The authors hypothesized that these children have a worse HRQL than healthy children or a cohort of children matched for CHD diagnosis. Infants with chromosomal abnormalities undergoing cardiac surgery for CHD at 6 weeks of age or younger at the Stollery Children's Hospital between July 2000 and June 2005 were included in the study. The HRQL of these infants was assessed using the Pediatric Quality of Life Inventory (PedsQL) 4.0 Generic Core Scales completed by their parents at a 4-year follow-up evaluation. The study compared the scores for 16 children with normative data. The children with chromosomal abnormalities and CHD had significantly lower mean total PedsQL (71.3 vs. 87.3; p < 0.0001), Psychosocial Summary (70.3 vs. 86.1; p < 0.0001), and Physical Summary (74.3 vs. 89.2; p = 0.0006) scores. Compared with the matched children, those with chromosomal abnormalities had a significantly lower median total PedsQL (75.0 vs. 84.6; p = 0.03), Physical Summary (79.5 vs. 96.9; p = 0.007), and School Functioning (68.5 vs. 83.0; p = 0.03) scores. A better understanding of the mechanisms and determinants of HRQL in these children has the potential to yield important implications for clinical practice including clarity for treatment decision making as well as determination of targeted supports and services to meet the needs of these children and their families differentially.

  18. Staged repair of pentalogy of Cantrell with ectopia cordis and ventricular septal defect.

    Science.gov (United States)

    Sakasai, Yoshie; Thang, Bui Quoc; Kanemoto, Shinya; Takahashi-Igari, Miho; Togashi, Shinji; Kato, Hideyuki; Hiramatsu, Yuji

    2012-05-01

    Pentalogy of Cantrell is a rare congenital anomaly characterized by a combination of severe defects in the middle of the chest and abdomen including intracardiac defects. Survival rate after cardiac surgery is extremely low. We present a successful staged complete repair of an omphalocele, a ventricular septal defect and a sternal defect in a case of pentalogy of Cantrell.

  19. Anesthesia for major general surgery in neonates with complex cardiac defects.

    Science.gov (United States)

    Walker, Amy; Stokes, Monica; Moriarty, Anthony

    2009-02-01

    Centers with large cardiac workloads may be presented with neonates who need major general surgery before correction or palliation of a serious cardiac defect. This is still a rare situation with only three short case reports available in the medical literature (1-3). We have reviewed the anesthetic and analgesic regimens of 18 such neonates who presented to the Birmingham Children's Hospital in the 4-year period 2004-2007. These children require meticulous preoperative evaluation and although it might be anticipated that they would pose a serious challenge to anesthetists, in reality with thorough investigation, preparation, and careful management, they tolerate general anesthesia well. These children may be transferred to centers of specialist pediatric cardiac anesthesia to be benefited from experience obtained there.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2013-03-15

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

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

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

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

  2. Elective nasal continuous positive airway pressure to support respiration after prolonged ventilation in infants after congenital cardiac surgery

    Science.gov (United States)

    Gandhi, Hemang; Mishra, Amit; Thosani, Rajesh; Acharya, Himanshu; Shah, Ritesh; Surti, Jigar; Sarvaia, Alpesh

    2017-01-01

    Background: We sought to compare the effectiveness of oxygen (O2) treatment administered by an O2 mask and nasal continuous positive airway pressure (NCPAP) in infants after congenital cardiac surgery. Methods: In this retrospective observational study, 54 infants undergoing corrective cardiac surgery were enrolled. According to the anesthesiologist's preference, the patients ventilated for more than 48 h were either put on NCPAP or O2 mask immediately after extubation. From pre-extubation to 24 h after treatment, arterial blood gas and hemodynamic data were measured. Results: After 24 h of NCPAP institution, the patients showed a significant improvement in oxygenation compared to O2 mask group. Respiratory rate (per minute) decreased from 31.67 ± 4.55 to 24.31 ± 3.69 (P < 0.0001), PO2 (mmHg) increased from 112.12 ± 22.83 to 185.74 ± 14.81 (P < 0.0001), and PCO2 (mmHg) decreased from 42.88 ± 5.01 to 37.00 ± 7.22 (P < 0.0076) in patients on NCPAP. In this group, mean pediatric cardiac surgical Intensive Care Unit (PCSICU) stay was 4.72 ± 1.60 days, with only 2 (11.11%) patients requiring re-intubation. Conclusion: NCPAP can be used safely and effectively in infants undergoing congenital cardiac surgery to improve oxygenation/ventilation. It also reduces the work of breathing, PCSICU stay, and may reduce the likelihood of re-intubation. PMID:28163425

  3. Cardiac defects, nuchal edema and abnormal lymphatic development are not associated with morphological changes in the ductus venosus

    NARCIS (Netherlands)

    Burger, Nicole B.; Haak, Monique C.; Kok, Evelien; de Groot, Christianne J M; Shou, Weinian; Scambler, Peter J.; Lee, Youngsook; Cho, Eunjin; Christoffels, Vincent M.; Bekker, Mireille N.

    2016-01-01

    Background In human fetuses with cardiac defects and increased nuchal translucency, abnormal ductus venosus flow velocity waveforms are observed. It is unknown whether abnormal ductus venosus flow velocity waveforms in fetuses with increased nuchal translucency are a reflection of altered cardiac fu

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Noor Mohammad Noori

    2016-07-01

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

  6. [Theoretical patterns of the panel D-15 test in congenital dichromatic color vision defects].

    Science.gov (United States)

    Kandatsu, A; Okabe, T; Kitahara, K

    1989-12-01

    In order to study the theoretical patterns of the panel D-15 test for congenital dichromatic color vision defects, the spectral reflectance for the 16 color caps of the panel D-15 test was measured with a spectro-photometer. Then, the chromaticity-coordinates of each color cap were calculated using the spectral distribution of standard illuminant C. The theoretical patterns of the panel D-15 test for dichromats were obtained based on the confusion lines. For this procedure, the slope of the line between the color cap and the convergence point on the CIE chromaticity diagram was obtained first. Then, the order of the arrangement was decided starting with the slope having the smallest cap number and continuing progressively. For the chromaticity coordinates of the convergence points the following values were used; x = 0.7465, y = 0.2535 for protanopia, x = 1.08, y = -0.08, x = 1.40, y = -0.40, and x = 1.70, y = -0.70 for deuteranopia, and x = 0.171, y = 0.000 for tritanopia. The results show a very clear similarity between the orientation axis obtained by simulation and the actual data. Therefore, it was confirmed that dichromats arrange the color caps in the order of the slope of the line between the color cap and the convergence point, when performing the panel D-15 test. Furthermore, it was suggested that the patterns of the panel D-15 test differ by the convergence points among dichromats even of the same type.

  7. Coexistence of congenital giant melanocytic nevus of the scalp with cranial defect, poliosis, and hair loss.

    Science.gov (United States)

    Lee, Woo J; Lee, Sang M; Won, Chong H; Chang, Sung E; Lee, Mi W; Choi, Jee H; Moon, Kee C

    2013-01-01

    Congenital melanocytic nevi (CMN) are pigmented lesions presenting on the skin in approximately 1% of all newborns at or shortly after birth. CMN have been described as being associated with several anomalies, including cranial bone hypertrophy, scoliosis, and spina bifida. This is the first report to describe a giant congenital melanocytic nevus on the scalp associated with cranial involvement, poliosis, and alopecia.

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

    NARCIS (Netherlands)

    Overeem, Arend W.; Posovszky, Carsten; Rings, Edmond H. M. M.; Giepmans, Ben N. G.; van IJzendoorn, Sven C. D.

    2016-01-01

    Congenital diarrheal disorders are rare, often fatal, diseases that are difficult to diagnose (often requiring biopsies) and that manifest in the first few weeks of life as chronic diarrhea and the malabsorption of nutrients. The etiology of congenital diarrheal disorders is diverse, but several are

  9. [The effect of the severity of congenital pectus excavatum on the cardiac morphology in children: evaluation with multislice helical CT].

    Science.gov (United States)

    Lu, Tao; Deng, Kaihong

    2013-12-01

    This paper is aimed to evaluate the CT manifestation of congenital pectus excavatum and its effect on the cardiac morphology. CT features of 34 children with pectus excavatum were retrospectively reviewed. The Haller index (HI), CT depression index (CTDI), cardiac rotation angle (CRA), pulmonary vein angle (PVA), cardiac compression index (CCI) and cardiac asymmetry index (CAI) were measured from the images on the PACS system. The relationships among these indexes were evaluated. The HI was 4.12 +/- 1.48, the CTDI was 2.39+/- 0.70, CRA was (53.52 +/- 7.68) degrees, PVA was (66.51 +/- 11.02) degrees, CCI was 2.43 +/- 0.95, and CAI was 1.55 +/- 0.56. There was statistical significance of CCI and CAI between children with severe or slight pectus excavatum. The HI and CTDI were positively related with CCI and CAI respectively, whereas there was no statistical significance of CRA and PVA between children with severe or slight pectus excavatum. There was no statistical significance of HI, CTDI, CRA, PVA, CCI and CAI among different age groups. The morphological change of the heart compressed in children with pectus excavatum can be accurately evaluated by multislice helical CT.

  10. Congenital Heart Disease: Causes, Diagnosis, Symptoms, and Treatments.

    Science.gov (United States)

    Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying

    2015-07-01

    The congenital heart disease includes abnormalities in heart structure that occur before birth. Such defects occur in the fetus while it is developing in the uterus during pregnancy. About 500,000 adults have congenital heart disease in USA (WebMD, Congenital heart defects medications, www.WebMD.com/heart-disease/tc/congenital-heart-defects-medications , 2014). 1 in every 100 children has defects in their heart due to genetic or chromosomal abnormalities, such as Down syndrome. The excessive alcohol consumption during pregnancy and use of medications, maternal viral infection, such as Rubella virus, measles (German), in the first trimester of pregnancy, all these are risk factors for congenital heart disease in children, and the risk increases if parent or sibling has a congenital heart defect. These are heart valves defects, atrial and ventricular septa defects, stenosis, the heart muscle abnormalities, and a hole inside wall of the heart which causes defect in blood circulation, heart failure, and eventual death. There are no particular symptoms of congenital heart disease, but shortness of breath and limited ability to do exercise, fatigue, abnormal sound of heart as heart murmur, which is diagnosed by a physician while listening to the heart beats. The echocardiogram or transesophageal echocardiogram, electrocardiogram, chest X-ray, cardiac catheterization, and MRI methods are used to detect congenital heart disease. Several medications are given depending on the severity of this disease, and catheter method and surgery are required for serious cases to repair heart valves or heart transplantation as in endocarditis. For genetic study, first DNA is extracted from blood followed by DNA sequence analysis and any defect in nucleotide sequence of DNA is determined. For congenital heart disease, genes in chromosome 1 show some defects in nucleotide sequence. In this review the causes, diagnosis, symptoms, and treatments of congenital heart disease are described.

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

    Directory of Open Access Journals (Sweden)

    Peter Agergaard

    2011-02-01

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

  12. Tracheal quadrifurcation associated with congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Bhat, Venkatraman; Gadabanahalli, Karthik; Ahmad, Ozaire [Narayana Multispeciality Hospital and Mazumdar Shaw Cancer Center, Department of Radiology, Bangalore (India)

    2015-08-15

    Tracheal anomalies are known in association with congenital cardiac defects. Some of the well-described anomalies include accessory (displaced) tracheal bronchus with variants, tracheal trifurcation and accessory cardiac bronchus. Here we describe a case of tracheal quadrifurcation associated with complex congenital heart disease. Illustration of complex airway anatomy was simplified by the use of multidetector CT using a variety of image display options. Awareness of this complex anomaly will expand our knowledge of tracheal anomalies and equip the anesthesia and surgical team for better airway management. (orig.)

  13. Protective effect of periconceptional folic acid supplements on the risk of congenital heart defects: a registry-based case-control study in the northern Netherlands.

    NARCIS (Netherlands)

    Beijnum, I.M. van; Kapusta, L.; Bakker, M.K.; Heijer, M. den; Blom, H.J.; Walle, H.E. de

    2010-01-01

    AIMS: To investigate the potentially protective of periconceptional folic acid use on the risk of congenital heart defects (CHDs) relative to other non-folate related malformations. METHODS AND RESULTS: We analysed data from a large regional register of birth defects (EUROCAT-Northern Netherlands),

  14. Protective effect of periconceptional folic acid supplements on the risk of congenital heart defects : a registry-based case-control study in the northern Netherlands

    NARCIS (Netherlands)

    van Beynum, Ingrid M.; Kapusta, Livia; Bakker, Marian K.; den Heijer, Martin; Blom, Henk J.; de Walle, Hermien E. K.

    2010-01-01

    To investigate the potentially protective of periconceptional folic acid use on the risk of congenital heart defects (CHDs) relative to other non-folate related malformations. We analysed data from a large regional register of birth defects (EUROCAT-Northern Netherlands), over a 10 year period (1996

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

    Science.gov (United States)

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2016-11-02

    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.

  16. Retroaortic left innominate vein – Incidence, association with congenital heart defects, embryology, and clinical significance

    OpenAIRE

    2008-01-01

    In a retrospective analysis of echocardiograms, the incidence of retroaortic innominate vein was found to be 0.55% amongst children with congenital heart disease. It was most commonly associated with tetralogy of Fallot and right aortic arch.

  17. 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

  18. Heart transplantation in adults with congenital heart disease.

    Science.gov (United States)

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

    2017-02-22

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

  19. Scalp congenital hemangioma with associated high-output cardiac failure in a premature infant: Case report and review of literature.

    Science.gov (United States)

    Shah, Sumedh S; Snelling, Brian M; Sur, Samir; Ramnath, Alexandra R; Bandstra, Emmalee S; Yavagal, Dileep R

    2017-02-01

    Introduction Scalp congenital hemangiomas (CHs) are rare vascular malformations among infants; they can be associated with an array of complications, including cardiac and cosmetic issues. Here, we report the endovascular treatment of a premature infant with a suspected large right parietal scalp hemangioma and associated high-output cardiac failure. Case description A two-day-old female premature infant (29 weeks gestational age; 1330 g birth weight) was referred by the neonatologists to our department for consultation and potential treatment of a large right parietal CH causing abrupt hypotension and high-output cardiac failure. Doppler ultrasound imaging at bedside revealed areas of arterial-venous shunting from the scalp and the presence of a superior sagittal sinus waveform, consistent with intracranial venous drainage. To alleviate cardiac dysfunction secondary to this lesion, trans-arterial embolization via n-butyl cyanoacrylate (nBCA) glue and deployment of detachable coils was performed via umbilical artery to occlude the right superficial temporal and occipital artery branches supplying the CH. Following treatment, the infant continued to require ventilator management, vasopressor support, and correction of coagulopathy, but by post-operative day two, her condition improved remarkably and the mass size began decreasing. The patient was discharged after a relatively uncomplicated subsequent 2½-month course in the neonatal intensive care unit. Conclusion Endovascular therapy proved effective and safe in treating cardiac failure associated with scalp CH, despite potential complications associated with neuro-interventional surgery in premature infants. Appropriate consideration in this patient population should be given to factors including blood loss, contrast use, radiation exposure, operative time, and possible intra-/post-operative complications.

  20. Angiographic analysis of congenital mitral stenosis

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Kyung Soo; Yeon, Kyung Mo; Han, Man Chung [Seoul National University College of Medicine, Seoul (Korea, Republic of)

    1984-09-15

    Congenital mitral stenosis may be defined as a development abnormality of the mitral valve leaflets, commissures, interchordal spaces, papillary muscles, annulus or immediate supravalvular area producing obstruction to left ventricular filling. Authors had experience of nine case of congenital mitral stenosis confirmed by two dimensional echocardiography, angiocardiography and surgery in recent 5 years since 1979, and analyzed them with emphasis on the angiographic findings. The results are as follows: 1. Among 9 cases, 6 patients were male and 3 were female. Age distribution was from 4 month to 11 years. 2. The types of congenital mitral stenosis were 1 typical congenital mitral stenosis, 5 cases of parachute mitral valve and 3 cases of supramitral ring. 3. Angiographically typical congenital mitral stenosis showed narrowing of mitral valvular opening, parachute mitral valve displayed single large papillary muscle with narrowing valvular opening and supramitral ring disclosed semilunar shaped filling defect between left atrium and ventricle. 4. Associated cardiac and extracardiac anomalies of congenital mitral stenosis, as frequency wise, were ventricular septal defect, patent ductus arteriosus, coarctation of aorta, supra and subvalvular aortic stenosis, mitral regurgitation and double outlet right ventricle. 5. Cardiac angiography is essential to diagnose congenital mitral stenosis, but the need of two dimensional echocardiography cannot be ignored.

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

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

    洪毅; 蹇朝; 肖颖彬

    2009-01-01

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

  3. Sodium valproate-induced congenital cardiac abnormalities in mice are associated with the inhibition of histone deacetylase

    Directory of Open Access Journals (Sweden)

    Rollo Johnathon C

    2010-03-01

    Full Text Available Abstract Background Valproic acid, a widely used anticonvulsant drug, is a potent teratogen resulting in various congenital abnormalities. However, the mechanisms underlying valproic acid induced teratogenesis are nor clear. Recent studies indicate that histone deacetylase is a direct target of valproic acid. Methods In the present study, we have used histological analysis and RT-PCR assays to examine the cardiac abnormalities in mice treated with sodium valproate (NaVP and determined the effects of NaVP on histone deacetylase activity and the expression of heart development-related genes in mouse myocardial cells. Results The experimental data show that NaVP can induce cardiac abnormalities in fetal mice in a dose-dependent manner. NaVP causes a dose-dependent inhibition of hitone deacetylase (HDAC activity in mouse myocardial cells. However, the expression levels of HDAC (both HDAC1 and HDAC2 are not significantly changed in fetal mouse hearts after administration of NaVP in pregnant mice. The transcriptional levels of other heart development-related genes, such as CHF1, Tbx5 and MEF2, are significantly increased in fetal mouse hearts treated with NaVP. Conclusions The study indicates that administration of NaVP in pregnant mice can result in various cardiac abnormalities in fetal hearts, which is associated with an inhibition of histone deacetylase without altering the transcription of this enzyme.

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

    NARCIS (Netherlands)

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

    2004-01-01

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

  5. Non-cardiac complications during pregnancy in women with isolated congenital pulmonary valvar stenosis

    NARCIS (Netherlands)

    Drenthen, W.; Pieper, P. G.; Roos-Hesselink, J. W.; Schmidt, A. C. M.; Mulder, B. J. M.; van Dijk, A. P. J.; Vliegen, H. W.; Sollie, K. M.; Voors, A. A.; Ebels, T.; van Veldhuisen, D. J.

    2006-01-01

    Background: Information on the outcome of pregnancy in patients with pulmonary valvar stenosis is scarce, mostly limited to cardiac complications observed during pregnancy. Objectives: To investigate the magnitude and determinants of non-cardiac and fetal risks during pregnancy of women with isolate

  6. Non-cardiac complications during pregnancy in women with isolated congenital pulmonary valvar stenosis.

    NARCIS (Netherlands)

    Drenthen, W.; Pieper, P.G.; Roos-Hesselink, J.W.; Schmidt, A.C.; Mulder, B.J.M.; Dijk, A.P.J. van; Vliegen, H.W.; Sollie, K.M.; Voors, A.A.; Ebels, T.; Veldhuisen, D.J. van

    2006-01-01

    BACKGROUND: Information on the outcome of pregnancy in patients with pulmonary valvar stenosis is scarce, mostly limited to cardiac complications observed during pregnancy. OBJECTIVES: To investigate the magnitude and determinants of non-cardiac and fetal risks during pregnancy of women with isolate

  7. Maternal and infant genetic variants, maternal periconceptional use of selective serotonin reuptake inhibitors, and risk of congenital heart defects in offspring: population based study.

    Science.gov (United States)

    Nembhard, Wendy N; Tang, Xinyu; Hu, Zhuopei; MacLeod, Stewart; Stowe, Zachary; Webber, Daniel

    2017-03-06

    Objective To evaluate whether the association between maternal periconceptional use of selective serotonin reuptake inhibitors (SSRIs) and increased risk of congenital heart defects in offspring is modified by maternal or infant genetic variants in folate, homocysteine, or transsulfuration pathways.Design Population based study. DNA from mothers, fathers, and infants was genotyped with an Illumina GoldenGate custom single nucleotide polymorphism panel. A hybrid design based on a log linear model was used to calculate relative risks and Bayesian false discovery probabilities (BFDP) to identify polymorphisms associated with congenital heart defects modified by SSRI use.Data sources Data from the US National Birth Defects Prevention Study on 1180 liveborn infants with congenital heart defects and 1644 controls, born 1997-2008.Main outcome measures Cases included infants with selected congenital heart defects and control infants had no major defects. SSRI use was obtained from telephone interviews with mothers.Results For women who reported taking SSRIs periconceptionally, maternal SHMT1 (rs9909104) GG and AGgenotypes were associated with a 5.9 and 2.4 increased risk of select congenital heart defects in offspring, respectively, versus the AA genotype (BFDP=0.69). Compared with the AA genotype, BHMT (rs492842 and rs542852) GG and AG genotypes were associated with twice the riskof congenital heart defects (BFDP=0.74 and 0.79, respectively). MGST1 (rs2075237) CC and ACgenotypes were associated with an increased risk compared with the GG genotype (8.0 and 2.8, respectively; BFDP=0.79). Single nucleotide polymorphism in infant genes in the folate (MTHFS rs12438477), homocysteine (TRDMT1 rs6602178 and GNMT rs11752813) and transsulfuration (GSTP1 rs7941395 and MGST1 rs7294985) pathways were also associated with an increased risk of congenital heart defects.Conclusions Common maternal or infant genetic variants in folate, homocysteine, or transsulfuration pathways are

  8. Risk Factors for Acute Kidney Injury after Congenital Cardiac Surgery in Infants and Children: A Retrospective Observational Study

    Science.gov (United States)

    Kim, Eunhee; Park, Jung Bo; Kim, Youngwon; Yang, Ji-Hyuk; Jun, Tae-Gook; Kim, Chung Su

    2016-01-01

    Acute kidney injury (AKI) after pediatric cardiac surgery is associated with high morbidity and mortality. Modifiable risk factors for postoperative AKI including perioperative anesthesia-related parameters were assessed. The authors conducted a single-center, retrospective cohort study of 220 patients (aged 10 days to 19 years) who underwent congenital cardiac surgery between January and December 2012. The incidence of AKI within 7 days postoperatively was determined using the Kidney Disease: Improving Global Outcomes (KDIGO) criteria. Ninety-two patients (41.8%) developed AKI and 18 (8.2%) required renal replacement therapy within the first postoperative week. Among patients who developed AKI, 57 patients (25.9%) were KDIGO stage 1, 27 patients (12.3%) were KDIGO stage 2, and eight patients (3.6%) were KDIGO stage 3. RACHS-1 (Risk-Adjusted classification for Congenital Heart Surgery) category, perioperative transfusion and fluid administration as well as fluid overload were compared between patients with and without AKI. Multivariable logistic regression analyses determined the risk factors for AKI. AKI was associated with longer hospital stay or ICU stay, and frequent sternal wound infections. Younger age (CPB) time (OR, 2.45; 95% CI, 1.24–4.84), and low preoperative hemoglobin (OR, 2.40; 95% CI, 1.07–5.40) were independent risk factors for AKI. Fluid overload was not a significant predictor for AKI. When a variable of hemoglobin concentration increase (>3 g/dl) from preoperative level on POD1 was entered into the multivariable analysis, it was independently associated with postoperative AKI (OR, 6.51; 95% CI, 2.23–19.03 compared with no increase). This association was significant after adjustment with patient demographics, medication history and RACHS-1 category (hemoglobin increase >3g/dl vs. no increase: adjusted OR, 6.94; 95% CI, 2.33–20.69), regardless of different age groups and cyanotic or non-cyanotic heart disease. Prospective trials are

  9. Fourier analysis of multi-gated blood-pool data in patients with congenital heart disease, (1). Assessment of disease with left to right shunt, especially ventricular septal defect

    Energy Technology Data Exchange (ETDEWEB)

    Takeda, Kan; Maeda, Hisato; Yamaguchi, Nobuo; Nakamura, Kazuyoshi; Nakagawa, Tsuyoshi (Mie Univ., Tsu (Japan). School of Medicine)

    1983-07-01

    The ventricular emptying performance in patients with congenital heart disease with left to right (L-to-R) shunt was investigated by temporal Fourier analysis of multi-gated cardiac blood-pool data. Functional images are constructed with parameters of each pixel's phase angle and amplitude at fundamental frequency. Using global time-activity curves of both ventricles, phase angle and amplitude of left and right ventricles (LV and RV) were computed. Values of interventricular phase difference (D (phase)) and amplitude ratio of RV to LV (R (amp)) were calculated in individual cases. In 18 subjects with normal cardiac function, mean ( +- standard deviation) values of D (phase) was 1.7 +- 5.8 degree and that of R (amp) was 0.54 +- 0.20, respectively regardless of heart rate. In 22 patients of ventricular septal defect (VSD) with L-to-R shunt, D (phase) became larger in proportion to the ratio of pulmonary to systemic blood flow (Qp/Qs) (r = 0.899, p < 0.001). Especially, in those with large L-to-R shunt (Qp/ Qs < 2.0), significant RV phase lag over 18 degrees was recognized and types of VSD might be possible to be differentiated by phase images. In 9 patients with patent ductus arteriosus (PDA), no RV phase delay was seen. Mean value of R (amp) was considerably smaller in patients with PDA and significantly larger in 11 patients with atrial septal defect (ASD), as compared with that of subjects with normal cardiac functions. However, cases with VSD took the values within normal range. This method is highly valuable for pathophysiologic investigation and differential diagnosis of congenital heart disease with L-to-R shunt.

  10. Marital stability and congenital heart disease.

    Science.gov (United States)

    Silbert, A R; Newburger, J W; Fyler, D C

    1982-06-01

    The incidence of divorce or legal separation was studied in 438 families of children born with heart disease who entered the New England Regional Infant Cardiac Program between 1968 and 1973. The parents were interviewed when the children were 5 1/2 years old. The rate of divorce in 438 families of children with critical congenital heart disease was not significantly different from the rate in two comparison groups: (1) 25 families of children whose cardiac defect was spontaneously cured, and (2) 26 families of children catheterized in infancy for suspected cardiac defect but who were found to be free of heart disease. Rates of divorce or legal separation for the three groups were: critical congenital heart disease, 12.1%, spontaneously cured, 4.2% free of heart disease, 11.5% these rates were not significantly different. The average national divorce rate was 20.3% for the same period.

  11. Report from the international society for nomenclature of paediatric and congenital heart disease: creation of a visual encyclopedia illustrating the terms and definitions of the international pediatric and congenital cardiac code.

    Science.gov (United States)

    Giroud, Jorge M; Jacobs, Jeffrey P; Spicer, Diane; Backer, Carl; Martin, Gerard R; Franklin, Rodney C G; Béland, Marie J; Krogmann, Otto N; Aiello, Vera D; Colan, Steven D; Everett, Allen D; William Gaynor, J; Kurosawa, Hiromi; Maruszewski, Bohdan; Stellin, Giovanni; Tchervenkov, Christo I; Walters, Henry L; Weinberg, Paul; Anderson, Robert H; Elliott, Martin J

    2010-10-01

    Tremendous progress has been made in the field of pediatric heart disease over the past 30 years. Although survival after heart surgery in children has improved dramatically, complications still occur, and optimization of outcomes for all patients remains a challenge. To improve outcomes, collaborative efforts are required and ultimately depend on the possibility of using a common language when discussing pediatric and congenital heart disease. Such a universal language has been developed and named the International Pediatric and Congenital Cardiac Code (IPCCC). To make the IPCCC more universally understood, efforts are under way to link the IPCCC to pictures and videos. The Archiving Working Group is an organization composed of leaders within the international pediatric cardiac medical community and part of the International Society for Nomenclature of Paediatric and Congenital Heart Disease (www.ipccc.net). Its purpose is to illustrate, with representative images of all types and formats, the pertinent aspects of cardiac diseases that affect neonates, infants, children, and adults with congenital heart disease, using the codes and definitions associated with the IPCCC as the organizational backbone. The Archiving Working Group certifies and links images and videos to the appropriate term and definition in the IPCCC. These images and videos are then displayed in an electronic format on the Internet. The purpose of this publication is to report the recent progress made by the Archiving Working Group in establishing an Internet-based, image encyclopedia that is based on the standards of the IPCCC.

  12. Critical review of the epidemiologic literature regarding the association between congenital heart defects and exposure to trichloroethylene.

    Science.gov (United States)

    Bukowski, John

    2014-08-01

    The most recent Integrated Risk Information System review of trichloroethylene (TCE; CAS# 79-01-6) has suggested that congenital heart defects (CHD) are a critical endpoint associated with exposure to this solvent. This conclusion was drawn, at least partly, from epidemiologic data, including several relatively recent studies. The current article critically reviews this epidemiologic literature, focusing on study quality and consistency. Literature searches uncovered approximately a dozen studies that specifically addressed associations between TCE and congenital malformations in eight populations. Four of these reported positive associations between TCE and heart defects, with significant relative risks as high as 5-6 in some subgroups. However, each of the positive studies had substantial design or analytical flaws that could easily explain the results, thereby limiting the conclusions that can be drawn. Five studies found no positive association with TCE, and several of these reported substantially fewer cases than expected despite similar/higher exposures compared to positive studies, further detracting from causal conclusions. Overall, this epidemiologic literature provides no substantive or consistent evidence linking TCE to CHD.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-06-15

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

  14. Heart defects and ocular anomalies in children with Down’s syndrome

    OpenAIRE

    Bromham, Nathan R.; Woodhouse, J M; Cregg, M.; Webb, Elspeth Valma Jocelyn; Fraser, William

    2002-01-01

    Aims: To investigate whether ocular anomalies are associated with congenital heart defects in children with Down’s syndrome. \\ud \\ud Methods: 58 children with Down’s syndrome were entered into a retrospective observational study. Children were assigned to heart defect groups based on medical records. Optometric tests had previously been carried out at the homes of the children. \\ud \\ud Results: A relation between congenital cardiac defects, myopia, and nystagmus was observed. Heart proble...

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

    DEFF Research Database (Denmark)

    Klcovansky, J.; Søndergård, Lars; Helvind, M.;

    2008-01-01

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

  16. Differential protein expression in heart in UT-B null mice with cardiac conduction defects.

    Science.gov (United States)

    Yu, Hao; Meng, Yan; Wang, Li-Shun; Jin, Xian; Gao, Li-Fang; Zhou, Lei; Ji, Kun; Li, Yang; Zhao, Li-Juan; Chen, Guo-Qiang; Zhao, Xue-Jian; Yang, Baoxue

    2009-02-01

    Cardiac conduction defects were found in transgenic mice deficient in urea transporter UT-B. To investigate the molecular mechanisms of the conduction defects caused by UT-B deletion, we studied the protein expression profiles of heart tissue (comprising most conduction system) in wild-type versus UT-B null mice at different ages. By two-dimensional electrophoresis-based comparative analysis, we found that more than dozen proteins were modulated (>two-fold) in the myocardium of UT-B null mice. Out of these modulated proteins, troponin T (TNNT2) presented significant changes in UT-B null mice at early stage prior to the development of P-R interval elongation, while the change of atrial natriuretic peptide (ANP) occurred only at late stage in UT-B null mice that had the AV block. These data indicate that UT-B deletion caused the dynamic expression regulation of TNNT2 and ANP, and these proteins may provide new clues to investigate the molecular events involved in cardiac conduction.

  17. Morgagni Hernia with Partial A-V Canal Defect; A Rare Condition

    Directory of Open Access Journals (Sweden)

    Kunal

    2012-06-01

    Full Text Available Morgagni hernia is a rare diaphragmatic hernia usually due to congenital defects in the diaphragm. It is rarely associated with cardiac anomalies, most commonly atrial (ostium secundum or ventricular septal defects. We report a rare case of Morgagni hernia occurring in association with partial atrio-ventricular septal defect (ostium primum, and its successful surgical correction.

  18. Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice.

    Science.gov (United States)

    Heier, Christopher R; Satta, Rosalba; Lutz, Cathleen; DiDonato, Christine J

    2010-10-15

    Proximal spinal muscular atrophy (SMA) is the leading genetic cause of infant mortality. Traditionally, SMA has been described as a motor neuron disease; however, there is a growing body of evidence that arrhythmia and/or cardiomyopathy may present in SMA patients at an increased frequency. Here, we ask whether SMA model mice possess such phenotypes. We find SMA mice suffer from severe bradyarrhythmia characterized by progressive heart block and impaired ventricular depolarization. Echocardiography further confirms functional cardiac deficits in SMA mice. Additional investigations show evidence of both sympathetic innervation defects and dilated cardiomyopathy at late stages of disease. Based upon these data, we propose a model in which decreased sympathetic innervation causes autonomic imbalance. Such imbalance would be characterized by a relative increase in the level of vagal tone controlling heart rate, which is consistent with bradyarrhythmia and progressive heart block. Finally, treatment with the histone deacetylase inhibitor trichostatin A, a drug known to benefit phenotypes of SMA model mice, produces prolonged maturation of the SMA heartbeat and an increase in cardiac size. Treated mice maintain measures of motor function throughout extended survival though they ultimately reach death endpoints in association with a progression of bradyarrhythmia. These data represent the novel identification of cardiac arrhythmia as an early and progressive feature of murine SMA while providing several new, quantitative indices of mouse health. Together with clinical cases that report similar symptoms, this reveals a new area of investigation that will be important to address as we move SMA therapeutics towards clinical success.

  19. Expression of ghrelin and insulin-like growth factor-1 in immature piglet model of chronic cyanotic congenital heart defects with decreased pulmonary blood flow

    Institute of Scientific and Technical Information of China (English)

    WANG Dong; LIU Ying-long; L(U) Xiao-dong; ZHU Yao-bin; LING Feng; LIU Ai-jun; LI Gang; XU Yu-lin

    2011-01-01

    Background Cyanotic patients have potential growth retardation and malnutrition due to hypoxemia and other reasons.Ghrelin is a novel endogenous growth hormone secretagogue that has effects on growth and cardiovascular activities.The aim of this study was to evaluate the plasma level and myocardial expression of ghrelin and insulin-like growth factor-1 (IGF-1) using an immature piglet model of chronic cyanotic congenital heart defects with decreased pulmonary blood flow. Methods Twelve weanling Chinese piglets underwent procedures of main pulmonary artery-left atrium shunt with pulmonary artery banding or sham operation as control. Four weeks later, hemodynamic parameters were measured.Enzyme-linked immunosorbent assay for plasma ghrelin and IGF-1 level measurement were performed. Ventricular ghrelin and IGF-1 mRNA expressions were measured by quantitative real-time polymerase chain reaction. Results Four weeks after surgical procedure, the cyanotic model produced lower arterial oxygen tension ((68.73 ±15.09) mmHg), arterial oxygen saturation ((82.35 ± 8.63)%), and higher arterial carbon dioxide tension ((51.83 ± 6.12)mmHg), hematocrit ((42.67 ± 3.83)%) and hemoglobin concentration ((138.17 ± 16.73) g/L) than the control piglets ((194.08 ± 98.79) mmHg, (96.43 ± 7.91)%, (36.9 ± 4.73) mmHg, (31.17 ± 3.71)%, (109.83 ± 13.75) g/L) (all P <0.05).Plasma ghrelin level was significantly higher in the cyanotic model group in comparison to the control (P=0.004), and the plasma IGF-1 level was significantly lower than control (P=0.030). Compared with control animals, the expression of ghrelin mRNAs in the ventricular myocardium was significantly decreased in the cyanotic model group (P=0.000), and the expression of IGF-1 mRNAs was elevated (P=0.001). Conclusions Chronic cyanotic congenital heart defects model was successfully established. Plasma ghrelin level and myocardial IGF-1 mRNA expression were significantly up-regulated, while plasma IGF-1 level and

  20. Acute cardiac arrhythmias following surgery for congenital heart disease: mechanisms, diagnostic tools, and management.

    Science.gov (United States)

    Payne, Linda; Zeigler, Vicki L; Gillette, Paul C

    2011-06-01

    This article focuses on the management of those cardiac arrhythmias most commonly seen in the immediate postoperative period. They include ventricular tachycardia, ventricular fibrillation, atrial flutter, junctional ectopic tachycardia, bradycardia, and atrioventricular block. The mechanisms of cardiac arrhythmias are reviewed followed by a brief overview of the predominant acute arrhythmias, tools used for the diagnostic evaluation of these arrhythmias, management strategies, and, finally, nursing considerations.

  1. Time Course of Atrial Fibrillation in Patients with Congenital Heart Defects

    NARCIS (Netherlands)

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

    2015-01-01

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

  2. The Clinical and Molecular Relations Between Idiopathic Preterm Labor and Maternal Congenital Heart Defects

    NARCIS (Netherlands)

    de Laat, Monique W. M.; Pieper, Petronella G.; Oudijk, Martijn A.; Mulder, Barbara J. M.; Christoffels, Vincent M.; Afink, Gijs B.; Postma, Alex V.; Ris-Stalpers, Carrie

    2013-01-01

    Preterm labor (PTL) is an important cause of preterm delivery. The trigger initiating the process toward overt labor and parturition is poorly understood and the molecular basis remains an enigma. It recently emerged that the overall occurrence of PTL in pregnant women with congenital heart disease

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

    NARCIS (Netherlands)

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

    2006-01-01

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

  4. Arteriovenous Loop-Independent Free Flap Reconstruction of Sternal Defects after Cardiac Surgery.

    Science.gov (United States)

    Dornseifer, Ulf; Kleeberger, Charlotte; Ehrl, Denis; Herter, Frank; Ninkovic, Milomir; Iesalnieks, Igors

    2016-09-01

    Background Sternal defects following deep wound infections are predominantly reconstructed using local and regional flaps. The lack of appropriate recipient vessels after cardiac surgery may explain the minor role of free flaps. To date, arteriovenous loops have been the leading solution to enable microsurgical closure of these defects. However, the related surgical effort and the risk of flap failure are increased. We reviewed our experiences with the right gastroepiploic vessels as alternative recipient vessels for free flap reconstructions. Methods Between September 2010 and July 2015, 12 patients suffering deep wound infection after cardiac surgery underwent sternal reconstruction with free flaps anastomosed to the right gastroepiploic vessels. Gracilis flaps (n = 8) and anterolateral thigh perforator flaps (n = 4) were used for sternal reconstruction. Recipient vessels were harvested by laparoscopic dissection in five patients. Half of the free flaps were variably combined with omental flow-through flaps. Results Healing of all flaps was uneventful with no partial or total flap loss. Simultaneous interdisciplinary harvesting of recipient vessels by laparoscopy significantly shortened mean operative time from 313 to 216 minutes (p = 0.018). One incisional hernia was observed in the laparotomy group. Revision of a gracilis donor site was necessary in another patient due to postoperative bleeding. No recurrent sternal infection occurred during a mean follow-up of 20 months (range, 3-59 months). Conclusions The concept of gastroepiploic recipient vessels allows reliable free flap reconstructions of sternal defects in such high-risk patients without the need for arteriovenous loops.

  5. Limb defects and congenital anomalies of the genitalia in an infant with homozygous alpha-thalassemia.

    Science.gov (United States)

    Abuelo, D N; Forman, E N; Rubin, L P

    1997-01-20

    We describe an infant with homozygous alpha-thalassemia, genital abnormalities, and terminal transverse limb defects, whose limbs demonstrate evidence of loss of tissue and abnormal morphogenesis. We propose these defects were due to either severe fetal anemia or to vascular occlusion by abnormal erythrocytes, resulting in hypoxia of the developing distal limbs and genitalia.

  6. Delayed diagnosis of congenital myasthenia due to associated mitochondrial enzyme defect.

    Science.gov (United States)

    Guo, Yiran; Menezes, Minal J; Menezes, Manoj P; Liang, Jinlong; Li, Dong; Riley, Lisa G; Clarke, Nigel F; Andrews, P Ian; Tian, Lifeng; Webster, Richard; Wang, Fengxiang; Liu, Xuanzhu; Shen, Yulan; Thorburn, David R; Keating, Brendan J; Engel, Andrew; Hakonarson, Hakon; Christodoulou, John; Xu, Xun

    2015-03-01

    Clinical phenotypes of congenital myasthenic syndromes and primary mitochondrial disorders share significant overlap in their clinical presentations, leading to challenges in making the correct diagnosis. Next generation sequencing is transforming molecular diagnosis of inherited neuromuscular disorders by identifying novel disease genes and by identifying previously known genes in undiagnosed patients. This is evident in two patients who were initially suspected to have a mitochondrial myopathy, but in whom a clear diagnosis of congenital myasthenic syndromes was made through whole exome sequencing. In patient 1, whole exome sequencing revealed compound heterozygous mutations c.1228C > T (p.Arg410Trp) and c.679C > T (p.Arg227*) in collagen-like tail subunit (single strand of homotrimer) of asymmetric acetylcholinesterase (COLQ). In patient 2, in whom a deletion of exon 52 in Dystrophin gene was previously detected by multiplex ligation-dependent probe amplification, Sanger sequencing revealed an additional homozygous mutation c.1511_1513delCTT (p.Pro504Argfs*183) in docking protein7 (DOK7). These case reports highlight the need for careful diagnosis of clinically heterogeneous syndromes like congenital myasthenic syndromes, which are treatable, and for which delayed diagnosis is likely to have implications for patient health. The report also demonstrates that whole exome sequencing is an effective diagnostic tool in providing molecular diagnosis in patients with complex phenotypes.

  7. Interventricular cardiac resynchronization with right ventricular apical pacing in a patient with Ebstein's defect.

    Science.gov (United States)

    Maffe, Stefano; Perucca, Antonello; Paffoni, Paola; Signorotti, Fabiana; Pardo, Nicolò Franchetti; Dellavesa, Pierfranco; Parravicini, Umberto; Zenone, Franco; Paino, Anna Maria; Bielli, Massimo; Carola, Federico; Zanetta, Marco

    2008-06-01

    We present the case of a patient with Ebstein's defect surgically corrected, and a complete right bundle branch block (RBBB) documented on echocardiogram. After an episode of near syncope due to a high-grade atrioventricular (AV) block, the patient was assisted with a bicameral DDDR pacemaker implanted with traditional right ventricular apical pacing. After the DDDR, and after stimulation with an AV delay of 180 ms, a narrow QRS complex was observed. Meanwhile, the typical left bundle branch block morphology of the right ventricular pacing and the native RBBB morphology were missing. The QRS complex narrowing persisted, even with physical activity and also with the heart rate progression. An echocardiographic study confirmed an improvement of the cardiac resynchronization parameters with this programmed stimulation.

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

    Directory of Open Access Journals (Sweden)

    Juan Lacalzada

    2010-01-01

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

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

    DEFF Research Database (Denmark)

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

    2011-01-01

    with developmental delay, language impairment, plagiocephaly, BPES features (blepharophimosis, ptosis, epicanthus), and congenital heart defect. The deletion breakpoints were fine mapped using fluorescence in situ hybridization (FISH) and the size of the deletion is estimated to be approximately 23¿Mb. Based...

  10. A maternal dietary pattern characterised by fish and seafood in association with the risk of congenital heart defects in the offspring

    NARCIS (Netherlands)

    Obermann-Borst, S.A.; Vujkovic, M.; Vries, de J.H.M.; Wildhagen, M.F.; Looman, C.W.; Jonge, de R.; Steegers, E.A.P.; Steegers-Theunissen, R.P.M.

    2011-01-01

    Objective To identify maternal dietary patterns related to biomarkers of methylation and to investigate associations between these dietary patterns and the risk of congenital heart defects (CHDs) in the offspring. Design Case–control study. Setting Western part of the Netherlands, 2003–08. Populatio

  11. Cardiac function in trisomy 21 fetuses

    NARCIS (Netherlands)

    Clur, S. A. B.; Rengerink, K. Oude; Ottenkamp, J.; Bilardo, C. M.

    2011-01-01

    Objectives Trisomy 21 is associated with an increased nuchal translucency thickness (NT), abnormal ductus venosus (DV) flow at 11-14 weeks' gestation and congenital heart defects (CHD), and cardiac dysfunction has been hypothesized as the link between them. We therefore aimed to investigate whether

  12. Cardiac CT Angiography in Congestive Heart Failure.

    Science.gov (United States)

    Levine, Avi; Hecht, Harvey S

    2015-06-01

    Cardiac CT angiography has become an important tool for the diagnosis and treatment of congestive heart failure. Differentiation of ischemic from nonischemic cardiomyopathy; evaluation of myocardial perfusion; characterization of hypertrophic cardiomyopathy, left ventricular noncompaction, and arrhythmogenic right ventricular dysplasia; and delineation of congenital heart defects and valvular abnormalities are the primary diagnostic applications. Therapeutic use includes visualization of the coronary venous anatomy for optimal implementation of cardiac resynchronization therapy and evaluation of left ventricular assist devices and transplant vasculopathy.

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

    Directory of Open Access Journals (Sweden)

    Bockeria L.A.

    2013-03-01

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

  14. Congenital Heart Disease Screening by Ultrasonic Cardiogram for Cerebral Palsy Children with Cardiac Souffle in Cardiac Auscultation%超声心动图对心脏听诊有杂音的脑瘫儿童先天性心脏病筛查

    Institute of Scientific and Technical Information of China (English)

    刘朝辉; 冯国军; 梁坤; 张佼

    2015-01-01

    目的:探讨超声心动图对心脏听诊有杂音脑瘫儿童的先天性心脏病临床筛查的应用价值.方法:选择笔者所在医院2012年 11月-2014年9月收治的200例心脏听诊有Ⅱ级以上杂音的脑瘫儿童作为研究对象,对其临床资料进行回顾性分析,所有患儿均进行超声心动图检查.结果:通过心脏彩超检查出先天性心脏病46例,占23.0%,其中单纯房缺13例,单纯室缺12例,动脉导管未闭合6例(其中合并小室缺 3例),完全性心内膜垫缺损伴肺动脉狭窄3例,单纯肺动脉狭窄2例,法洛氏四联症2例,法洛氏五联症2例,主动脉瓣狭窄2例,肺动脉瓣上狭窄伴房缺1例,右位心伴永存动脉干1例,永存动脉干1例,三尖瓣下移畸形1例.结论:应用超声心电图检查对心脏听诊有杂音脑瘫儿童进行筛查先天性心脏病,具有无创、可靠、价格便宜等优点,有效提高CHD诊断率,具有较大的临床推广价值.%Objective:To investigate the application value of ultrasonic cardiogram in clinical screening for congenital heart disease of cerebral palsy children with cardiac souffle in cardiac auscultation.Method:200 cases with cerebral palsy who manifested cardiac souffle above level Ⅱ in heart auscultation in our hospital from November 2012 to September 2014 were selected as research objects,the clinical data were retrospectively analyzed and all of the patients underwent ultrasonic cardiogram examination.Result:46 cases of congenital heart disease were diagnosed in the cardiac color ultrasound examination and accounted for 23.0%,of which only 13 cases of simple atrial septal defect,12 cases of simple ventricular septal defect,6 cases of patent ductus arteriosus(3 cases combined with small VSD),3 cases of complete endocardial cushion defect combined with pulmonary artery stenosis,2 cases of simple pulmonary artery stenosis, 2 cases of Fallot tetralogy,2 cases of Fallot pentalogy,2 cases of aortic stenosis,1 case of upper

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

    Directory of Open Access Journals (Sweden)

    Wakako Jo

    2010-01-01

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

  16. Transcriptional defect of an inherited NKX2-5 haplotype comprising a SNP, a nonsynonymous and a synonymous mutation, associated with human congenital heart disease.

    Directory of Open Access Journals (Sweden)

    Stella Marie Reamon-Buettner

    Full Text Available Germline mutations in cardiac-specific transcription factor genes have been associated with congenital heart disease (CHD and the homeodomain transcription factor NKX2-5 is an important member of this group. Indeed, more than 40 heterozygous NKX2-5 germline mutations have been observed in individuals with CHD, and these are spread along the coding region, with many shown to impact protein function. In pursuit of understanding causes of CHD, we analyzed n = 49 cardiac biopsies from 28 patients and identified by direct sequencing two nonsynonymous NKX2-5 alterations affecting alanine 119, namely c.356C>A (p.A119E and c.355G>T, (p.A119S, in patients with AVSD and HLHS, respectively. In functional assays, a significant reduction in transcriptional activities could be determined for the NKX2-5 variants. Importantly, in one family the mother, besides p.A119E, carried a synonymous mutant allele in the homeodomain (c.543G>A, p.Q181, and a synonymous dbSNP (c.63A>G, p.E21 in the transactivation domain of the protein, that were transmitted to the CHD daughter. The presence of these variants in-cis with the p.A119E mutation led to a further reduction in transcriptional activities. Such difference in activity may be in part related to reduced protein expression for the double variant c.356C>A and c.543G>A. We propose changes in mRNA stability and folding, due to a silent mutation and a dbSNP in the NKX2-5 coding region to contribute to the functional defect. Although the clinical significance of the NKX2-5 haplotype identified in the CHD patients remains to be ascertained, we provide evidence of an interaction of a dbSNP, with synonymous and nonsynonymous mutations to negatively impact NKX2-5 transcriptional activity.

  17. Are omphalocele and neural tube defects related congenital anomalies? : Data from 21 registries in Europe (EUROCAT)

    NARCIS (Netherlands)

    Calzolari, E; Dolk, H; Stone, D; Milan, M

    1997-01-01

    We have analyzed the association between omphalocele and neural tube defects (O/NTD) previously reported in epidemiological studies of EUROCAT registry data [DoIk et al., 1991; Calzolari et al., 1995]. By examining differences in prevalence between the United Kingdom and Ireland (UKI) and Continenta

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

    Directory of Open Access Journals (Sweden)

    Vaidehi Agrawal

    2015-06-01

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

  19. Optical measurement of cerebral hemodynamics and oxygen metabolism in neonates with congenital heart defects

    Science.gov (United States)

    Durduran, Turgut; Zhou, Chao; Buckley, Erin M.; Kim, Meeri N.; Yu, Guoqiang; Choe, Regine; Gaynor, J. William; Spray, Thomas L.; Durning, Suzanne M.; Mason, Stefanie E.; Montenegro, Lisa M.; Nicolson, Susan C.; Zimmerman, Robert A.; Putt, Mary E.; Wang, Jiongjiong; Greenberg, Joel H.; Detre, John A.; Yodh, Arjun G.; Licht, Daniel J.

    2010-05-01

    We employ a hybrid diffuse correlation spectroscopy (DCS) and near-infrared spectroscopy (NIRS) monitor for neonates with congenital heart disease (n=33). The NIRS-DCS device measured changes during hypercapnia of oxyhemoglobin, deoxyhemoglobin, and total hemoglobin concentrations; cerebral blood flow (rCBFDCS); and oxygen metabolism (rCMRO2). Concurrent measurements with arterial spin-labeled magnetic resonance imaging (rCBFASL-MRI, n=12) cross-validate rCBFDCS against rCBFASL-MRI, showing good agreement (R=0.7, p=0.01). The study demonstrates use of NIRS-DCS on a critically ill neonatal population, and the results indicate that the optical technology is a promising clinical method for monitoring this population.

  20. Pulmonary arterial hypertension associated with bronchopulmonary dysplasia and congenital heart disease in preterm infants. A case report of a preterm infant with recurrent pulmonary hypertension after corrective cardiac surgery and review of the literature.

    Science.gov (United States)

    Muneuchi, Jun; Kuraoka, Ayako; Watanabe, Mamie; Ochiai, Yoshie; Joo, Kunitaka

    2015-01-01

    In preterm infants with congenital heart disease, concomitant bronchopulmonary dysplasia (BPD) is associated with relatively poor clinical outcomes because of the increased pulmonary vascular resistance and adverse effects of inflammation on the damaged lungs, even after surgery. We present herein a 1-year-old female who developed recurrent pulmonary arterial hypertension 6 months after closure of a ventricular septal defect. She was born at 26 weeks of gestation (birth weight, 470 g), and developed BPD requiring oxygen supplementation. Her systemic-to-pulmonary blood flow ratio was 2.1 preoperatively and 1.0 postoperatively, pulmonary arterial pressure was 61/15 (mean 39) mmHg preoperatively and 41/17 (mean 24) mmHg postoperatively, and pulmonary vascular resistance was 4.2 mmHg/L·minute·m(2) preoperatively and 3.6 mmHg/L·minute·m(2) postoperatively. At 1 year of age, echocardiography showed an increase in her estimated right ventricular pressure, indicating worsening pulmonary hypertension. After 3 years of treatment with oxygen supplementation, prostacyclin, and bosentan, her pulmonary arterial pressure improved to the normal range. The pathophysiology of pulmonary arterial hypertension is heterogeneous in preterm infants with congenital heart disease and concomitant BPD. Careful management of these patients is warranted even after corrective cardiac surgery.

  1. [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.

  2. Radiofrequency Ablation of Accessory Pathways in Chil- dren with Complex Congenital Cardiac Lesions: A Report of Three Cases

    Directory of Open Access Journals (Sweden)

    Mohammad Dalili

    2015-10-01

    Full Text Available Catheter ablation is an accepted, highly effective modality of treatment for cardiac arrhythmias in children. The success rate depends on the operator’s experience, especially in cases involving complex anatomies. We hereby report our recent experience of successful ablation of accessory pathways in three children with complex congenital heart diseases.The first case was a 7-year-old girl with tricuspid atresia and a previous Glenn shunt, in whom a sub-epicardial overt accessory pathway was successfully ablated via the coronary sinus. The second case, a 9-year-old girl, received accessory pathway ablation via the fenestration of an extracardiac Fontan pathway. The third case was a 14-year-old boy with dextrocardia, common atrium, common ventricle, and a previous extracardiac Fontan operation, in whom ablation of a concealed accessory pathway was carried out retrogradely from the aorta. All the ablations were done in Rajaie Cardiovascular, Medical and Research Center, Tehran, and all the patients were discharged from the hospital without any complication.

  3. Cardiac electrical defects in progeroid mice and Hutchinson–Gilford progeria syndrome patients with nuclear lamina alterations

    Science.gov (United States)

    Rivera-Torres, José; Calvo, Conrado J.; Llach, Anna; Guzmán-Martínez, Gabriela; Caballero, Ricardo; González-Gómez, Cristina; Jiménez-Borreguero, Luis J.; Guadix, Juan A.; Osorio, Fernando G.; López-Otín, Carlos; Herraiz-Martínez, Adela; Cabello, Nuria; Vallmitjana, Alex; Benítez, Raul; Gordon, Leslie B.; Pérez-Pomares, José M.; Tamargo, Juan; Delpón, Eva; Hove-Madsen, Leif; Filgueiras-Rama, David; Andrés, Vicente

    2016-01-01

    Hutchinson–Gilford progeria syndrome (HGPS) is a rare genetic disease caused by defective prelamin A processing, leading to nuclear lamina alterations, severe cardiovascular pathology, and premature death. Prelamin A alterations also occur in physiological aging. It remains unknown how defective prelamin A processing affects the cardiac rhythm. We show age-dependent cardiac repolarization abnormalities in HGPS patients that are also present in the Zmpste24−/− mouse model of HGPS. Challenge of Zmpste24−/− mice with the β-adrenergic agonist isoproterenol did not trigger ventricular arrhythmia but caused bradycardia-related premature ventricular complexes and slow-rate polymorphic ventricular rhythms during recovery. Patch-clamping in Zmpste24−/− cardiomyocytes revealed prolonged calcium-transient duration and reduced sarcoplasmic reticulum calcium loading and release, consistent with the absence of isoproterenol-induced ventricular arrhythmia. Zmpste24−/− progeroid mice also developed severe fibrosis-unrelated bradycardia and PQ interval and QRS complex prolongation. These conduction defects were accompanied by overt mislocalization of the gap junction protein connexin43 (Cx43). Remarkably, Cx43 mislocalization was also evident in autopsied left ventricle tissue from HGPS patients, suggesting intercellular connectivity alterations at late stages of the disease. The similarities between HGPS patients and progeroid mice reported here strongly suggest that defective cardiac repolarization and cardiomyocyte connectivity are important abnormalities in the HGPS pathogenesis that increase the risk of arrhythmia and premature death. PMID:27799555

  4. The influence of Plato, Aristotle, and the ancient Polis on a programme for congenital cardiac surgery: the virtuous partnership.

    Science.gov (United States)

    Mavroudis, Constantine; Backer, Carl L

    2007-09-01

    The problems that exist in maintaining a partnership in paediatric cardiac surgery are considerable. They relate to fairness in allocation of time for leisure, the apportioning of cases between the partners, internal competition between them, financial considerations, and promotion of the ego. In this review, we discuss our own experiences in maintaining a partnership over a period of more than 18 years, relating such a "virtuous partnership" to the writings of Plato and Aristotle, and setting it against the tenets of the ancient Greek polis. The polis, or city state, came to prominence in ancient Greece during the golden age of Pericles, this period seeing the initial evolution of Western philosophy, as well as numerous other scientific, artistic and architectural advances. The concept of the polis was to create a natural association with its citizens that nurtured all that is best in people, at the same time defining their character. In this respect, according to Plato, the person and the polis are mirror images. Aristotle then expanded this notion to incorporate the various forms of friendship, which he pointed out last only as long as the interrelated pleasure survives. Using these principles as the point of departure, we argue that cardiac surgeons should respect moral virtue in each other. Extending this process means that we should also respect, and celebrate, our relationships with affiliated physicians, nurses, perfusionists, administrators, and all concerned in the care of children with congenitally malformed hearts. In this way, we create a virtuous partnership for congenital cardiac surgery that promotes all that was good, as engendered in the ancient Greek polis. As we extend these observations to the modern world, we discuss some of the features that have permitted us to work so well together. One of the most important is a summoning and unwritten tenet that greets us as we enter the operating room, namely "check your ego at the door". The operative

  5. 心导管介入治疗先天性心脏病复合畸形的护理%Nursing care of patients with congenital compound heart abnormality treated by interventional therapy of cardiac catheterization

    Institute of Scientific and Technical Information of China (English)

    杨学凤

    2016-01-01

    Objective:To analyze the nursing care of patients with congenital compound heart abnormality treated by interventional therapy of cardiac catheterization.Methods:25 patients with congenital compound heart abnormality treated by interventional therapy of cardiac catheterization were selected.We summarized nursing experience.Results:Closure operation was successful in 24 patients, and 2 patients received cardiac surgery after surgery;1 case of failure due to serious defect. There were 2 cases of hematoma in the puncture site after operation,and the hematoma disappeared after treatment.Mechanical hemolysis,deep venous thrombosis,brachial plexus injury and other serious complications were not occurred in patients. Conclusion:To strengthen the perioperative nursing of patients with congenital heart disease combined malformation in perioperative care can effectively improve the success rate of surgical closure,and avoid the incidence of serious complications.%目的:分析心导管介入治疗先天性心脏病复合畸形的护理。方法:收治心导管介入治疗先天性心脏病复合畸形患者25例,总结护理体会。结果:24例患者封堵手术成功,术后转入心脏外科接受治疗2例;因缺损严重封堵失败1例;术后出现穿刺部位血肿,处理后血肿消失2例;患者未出现机械性溶血、深静脉血栓、臂丛神经损伤等严重并发症。结论:加强先天性心脏病复合畸形患者介入手术的围手术期护理可有效提高手术封堵成功率,避免和减少术后严重并发症发生。

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

    Directory of Open Access Journals (Sweden)

    Rakhee Goyal

    2013-01-01

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

  7. Congenital sternal foramen in a stillborn Holstein calf

    Institute of Scientific and Technical Information of China (English)

    Shahrzad Azizi; Mohsen Khosravi Bakhtiary; Mehdi Goodarzi

    2012-01-01

    Congenital sternal foramen is an anomaly whose occurrence is rare in human but is especially unusual in animals. This defect was formed when fusion of multiple ossification centers was incomplete. It may be associated with other lesions in body organs especially cardiac anomalies. In the present study, we report a very rare case of congenital sternal foramen in a Holstein calf. The oval defect was like a gunshot wound and located at the lower third of the sternum. Apparently, the rest of skeleton system seems normal. The awareness of the anomaly is important for better diagnosis and treatment of diseases.

  8. Early enteral nutrition therapy in congenital cardiac repair postoperatively: A randomized, controlled pilot study

    Science.gov (United States)

    Sahu, Manoj Kumar; Singal, Anuradha; Menon, Ramesh; Singh, Sarvesh Pal; Mohan, Alka; Manral, Mala; Singh, Divya; Devagouru, V.; Talwar, Sachin; Choudhary, Shiv Kumar

    2016-01-01

    Background and Objectives: Adequate nutritional supplementation in infants with cardiac malformations after surgical repair is a challenge. Critically ill infants in the early postoperative period are in a catabolic stress. The mismatch between estimated energy requirement (EER) and the intake in the postoperative period is multifactorial, predisposing them to complications such as immune deficiency, more infection, and growth failure. This study aimed to assess the feasibility and efficacy of enriched breast milk feed on postoperative recovery and growth of infants after open heart surgery. Methodology: Fifty infants surgery is feasible and recommended. In addition, enriching the EBM is helpful in achieving the maximum possible calorie intake in the postoperative period. EN therapy might help in providing adequate nutrition, and it decreases ventilation duration, infection rate, LOIS, LOHS, and mortality. PMID:27716696

  9. Evaluation of right ventricular function in adults with congenital heart defects.

    Science.gov (United States)

    Bussadori, Claudio; Di Salvo, Giovanni; Pluchinotta, Francesca R; Piazza, Luciane; Gaio, Giampiero; Russo, Maria Giovanna; Carminati, Mario

    2015-01-01

    The right ventricle (RV) is of lesser importance in acquired heart disease, but its role is of increasing importance in congenital heart disease (CHD). Despite major progress being made, precise measurements of the RV are challenging because of its peculiar anatomical structure that is not adaptable to any planar geometrical assumption. This is particularly true in adult patients with CHD where the RV shape eludes any standardization, it may assume various morphologies, and its modality of contraction depends on previous surgical treatment and/or pathophysiological conditions. However, reliable and repeatable quantification of RV dimensions and function for these patients are essential to provide appropriate timing for intervention to optimize outcomes. In this population, echocardiographic evaluation should not be limited to an observational and subjective functional assessment of the RV but must provide quantitative values repeatable and clinically reliable to help the decision-making process. The aim of this review was to discuss the echocardiographic approach to the RV in adult patients with CHD in general and in specific cases of pressure or volume overload.

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

    Science.gov (United States)

    Corno, Antonio F

    2016-07-01

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

  11. SCAI/CCAS/SPA expert consensus statement for anesthesia and sedation practice: Recommendations for patients undergoing diagnostic and therapeutic procedures in the pediatric and congenital cardiac catheterization laboratory.

    Science.gov (United States)

    Odegard, Kirsten C; Vincent, Robert; Baijal, Rahul; Daves, SuAnne; Gray, Robert; Javois, Alex; Love, Barry; Moore, Phil; Nykanen, David; Riegger, Lori; Walker, Scott G; Wilson, Elizabeth C

    2016-11-15

    Current practice of sedation and anesthesia for patients undergoing pediatric congenital cardiac catheterization laboratory (PCCCL) procedures is known to vary among institutions, a multi-society expert panel with representatives from the Congenital Heart Disease Council of the Society for Cardiovascular Angiography and Interventions (SCAI), the Society for Pediatric Anesthesia (SPA) and the Congenital Cardiac Anesthesia Society (CCAS) was convened to evaluate the types of sedation and personnel necessary for procedures performed in the PCCCL. The goal of this panel was to provide practitioners and institutions performing these procedures with guidance consistent with national standards and to provide clinicians and institutions with consensus-based recommendations and the supporting references to encourage their application in quality improvement programs. Recommendations can neither encompass all clinical circumstances nor replace the judgment of individual clinicians in the management of each patient. The science of medicine is rooted in evidence, and the art of medicine is based on the application of this evidence to the individual patient. This expert consensus statement has adhered to these principles for optimal management of patients requiring sedation and anesthesia. What follows are recommendations for patient monitoring in the PCCCL regardless of whether minimal or no sedation is being used or general anesthesia is being provided by an anesthesiologist. © 2016 Wiley Periodicals Inc.

  12. Evaluation of congenital heart disease by magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Roos, A. de; Roest, A.A.W. [Department of Radiology, Leiden University Medical Center (Netherlands)

    2000-01-01

    Magnetic resonance imaging has proven to be useful in the assessment of patients with complex congenital heart disease and in the post-surgical follow-up of patients with corrected congenital heart disease. A thorough understanding of the congenital cardiac malformations that can be encountered is needed and the use of the sequential segmental analysis helps to standardize the evaluation and diagnosis of (complex) congenital heart disease. After surgical correction of congenital heart defects, patients must be followed over extended periods of time, because morphological and functional abnormalities may still be present or may develop. The use of echocardiography may be hampered in these patients as scar tissue and thorax deformities limit the acoustic window. Magnetic resonance imaging has proven to be advantageous in the follow-up of these post-surgical patients and with the use of several different techniques the morphological as well as functional abnormalities can be evaluated and followed over time. (orig.)

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

    Institute of Scientific and Technical Information of China (English)

    Zhengnian Ding; Qinhai Zhou; Bo Gui

    2009-01-01

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

  14. Anatomical assessment of congenital heart disease.

    Science.gov (United States)

    Wood, John C

    2006-01-01

    Cardiac MRI (CMR) is replacing diagnostic cardiac catheterization as the modality of choice for anatomic and functional characterization of congenital heart disease (CHD) when echocardiographic imaging is insufficient. In this manuscript, we discuss the principles of anatomic imaging of CHD, placing emphasis on the appropriate choice and modification of pulse sequences necessary to evaluate infants and small children. Clinical examples are provided to illustrate the relative strengths and shortcomings of different CMR imaging techniques. Although cardiovascular function and flow techniques are not described, their role in evaluating the severity of anatomic defects is emphasized. Anatomic characterization represents the first component of a carefully-planned, integrated CMR assessment of CHD.

  15. Increased risk of severe congenital heart defects in offspring exposed to selective serotonin-reuptake inhibitors in early pregnancy--an epidemiological study using validated EUROCAT data

    DEFF Research Database (Denmark)

    Knudsen, Tanja Majbrit; Hansen, Anne Vinkel; Garne, Ester;

    2014-01-01

    BACKGROUND: Previous studies suggest a possible association between maternal use of selective serotonin-reuptake inhibitors (SSRIs) during early pregnancy and congenital heart defects (CHD). The purpose of this study was to verify this association by using validated data from the Danish EUROCAT...... terminated due to congenital anomalies. The study population consisted of all registered pregnancies (n = 72,280) in Funen, Denmark in the period 1995-2008. SSRI-use was assessed using The Danish National Prescription Registry, information on marital status, maternal educational level, income, and country...... of the 845 pregnant women who used SSRIs during first trimester increased four times (AOR 4.03 (95% CI 1.75-9.26)). We found no increased risk of septal defects. Socioeconomic position did not modify the association between maternal SSRI-use during pregnancy and severe CHD. CONCLUSION: This study, which...

  16. Modification of the association between maternal smoke exposure and congenital heart defects by polymorphisms in glutathione S-transferase genes.

    Science.gov (United States)

    Li, Xiaohong; Liu, Zhen; Deng, Ying; Li, Shengli; Mu, Dezhi; Tian, Xiaoxian; Lin, Yuan; Yang, Jiaxiang; Li, Jun; Li, Nana; Wang, Yanping; Chen, Xinlin; Deng, Kui; Zhu, Jun

    2015-10-12

    Congenital heart defects (CHDs) arise through various combinations of genetic and environmental factors. Our study explores how polymorphisms in the glutathione S-transferase (GST) genes affect the association between cigarette smoke exposure and CHDs. We analysed 299 mothers of children with CHDs and 284 mothers of children without any abnormalities who were recruited from six hospitals. The hair nicotine concentration (HNC) was used to quantify maternal smoke exposure, and the maternal GSTT1, and GSTM1 and GSTP1 genes were sequenced. We found a trend of higher adjusted odds ratios with higher maternal HNC levels, suggesting a dose-response relationship between maternal smoke exposure and CHDs. The lowest HNC range associated with an increased risk of CHDs was 0.213-0.319 ng/mg among the mothers with functional deletions of GSTM1 or GSTT1and 0.319-0.573 ng/mg among the mothers with normal copies of GSTM1 and GSTT1. In addition, the adjusted odds ratio for an HNC of >0.573 ng/mg was 38.53 among the mothers with the GSTP1 AG or GG genotype, which was 7.76 (χ(2) = 6.702, p = 0.010) times greater than the AOR in the mothers with GSTP1 AA genotype. Our study suggests that polymorphisms of maternal GST genes may modify the association of maternal smoke exposure with CHDs.

  17. Characterization of SMAD3 Gene Variants for Possible Roles in Ventricular Septal Defects and Other Congenital Heart Diseases.

    Directory of Open Access Journals (Sweden)

    Fei-Feng Li

    Full Text Available Nodal/TGF signaling pathway has an important effect at early stages of differentiation of human embryonic stem cells in directing them to develop into different embryonic lineages. SMAD3 is a key intracellular messenger regulating factor in the Nodal/TGF signaling pathway, playing important roles in embryonic and, particularly, cardiovascular system development. The aim of this work was to find evidence on whether SMAD3 variations might be associated with ventricular septal defects (VSD or other congenital heart diseases (CHD.We sequenced the SMAD3 gene for 372 Chinese Han CHD patients including 176 VSD patients and evaluated SNP rs2289263, which is located before the 5'UTR sequence of the gene. The statistical analyses were conducted using Chi-Square Tests as implemented in SPSS (version 13.0. The Hardy-Weinberg equilibrium test of the population was carried out using the online software OEGE.Three heterozygous variants in SMAD3 gene, rs2289263, rs35874463 and rs17228212, were identified. Statistical analyses showed that the rs2289263 variant located before the 5'UTR sequence of SMAD3 gene was associated with the risk of VSD (P value=0.013 <0.05.The SNP rs2289263 in the SMAD3 gene is associated with VSD in Chinese Han populations.

  18. Ductus venosus in the first trimester: contribution to screening of chromosomal, cardiac defects and monochorionic twin complications.

    Science.gov (United States)

    Maiz, Nerea; Nicolaides, Kypros H

    2010-01-01

    In the first trimester the ductus venosus can be easily identified with color Doppler and a ductus venosus waveform can be obtained by pulsed Doppler. At 11-13 weeks the prevalence of abnormal a-wave in the ductus venosus is inversely related to fetal crown-rump length and maternal serum pregnancy-associated plasma protein-A (PAPP-A), increases with fetal nuchal translucency (NT) thickness and is more common in women of Black racial origin and in fetuses with abnormal karyotype or cardiac defects. Ductus venosus flow provides an independent contribution in the prediction of chromosomal abnormalities when combined with NT and the maternal serum markers of PAPP-A and free beta-hCG, increasing the detection rate to 96% at a false-positive rate of 2.6%. Abnormal ductus venosus flow increases the risk of cardiac defects in fetuses with NT above the 95th centile, and it may increase the risk in fetuses with normal NT. In twin pregnancies, abnormal ductus venosus flow is associated with chromosomal abnormalities and cardiac defects. In monochorionic twins, abnormal flow in the ductus venosus in at least 1 of the fetuses increases the risk of developing twin-to-twin transfusion syndrome.

  19. Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome

    OpenAIRE

    Mlynarski, Elisabeth E.; Sheridan, Molly B.; Xie, Michael; Guo, Tingwei; Racedo, Silvia E.; McDonald-McGinn, Donna M.; Gai, Xiaowu; Chow, Eva W.C.; Vorstman, Jacob; Swillen, Ann; Devriendt, Koen; Breckpot, Jeroen; Digilio, Maria Cristina; Marino, Bruno; Dallapiccola, Bruno

    2015-01-01

    The 22q11.2 deletion syndrome (22q11DS; velocardiofacial/DiGeorge syndrome; VCFS/DGS) is the most common microdeletion syndrome and the phenotypic presentation is highly variable. Approximately 65% of individuals with 22q11DS have a congenital heart defect (CHD), mostly of the conotruncal type, and/or an aortic arch defect. The etiology of this phenotypic variability is not currently known. We hypothesized that copy-number variants (CNVs) outside the 22q11.2 deleted region might increase the ...

  20. Investigating developmental cardiovascular biomechanics and the origins of congenital heart defects

    Directory of Open Access Journals (Sweden)

    William J Kowalski

    2014-10-01

    Full Text Available Innovative research on the interactions between biomechanical load and cardiovascular (CV morphogenesis by multiple investigators over the past 3 decades, including the application of bioengineering approaches, has shown that the embryonic heart adapts both structure and function in order to maintain cardiac output to the rapidly growing embryo. Acute adaptive hemodynamic mechanisms in the embryo include the redistribution of blood flow within the heart, dynamic adjustments in heart rate and developed pressure, and beat to beat variations in blood flow and vascular resistance. These biomechanically relevant events occur coincident with adaptive changes in gene expression and trigger adaptive mechanisms that include alterations in myocardial cell growth and death, regional and global changes in myocardial architecture, and alterations in central vascular morphogenesis and remodeling. These adaptive mechanisms allow the embryo to survive these biomechanical stresses (environmental, maternal and to compensate for developmental errors (genetic. Recent work from numerous laboratories shows that a subset of these adaptive mechanisms is present in every developing multicellular organism with a heart equivalent structure. This chapter will provide the reader with an overview of some of the approaches used to quantify embryonic CV functional maturation and performance, provide several illustrations of experimental interventions that explore the role of biomechanics in the regulation of CV morphogenesis including the role of computational modeling, and identify several critical areas for future investigation as available experimental models and methods expand.

  1. Multiligand endocytosis and congenital defects: roles of cubilin, megalin and amnionless.

    Science.gov (United States)

    Kozyraki, Renata; Gofflot, Françoise

    2007-01-01

    Cubilin and megalin are multiligand receptors that mediate uptake of extracellular ligands. Their function has extensively been studied in the kidney where they play a key role in vitamin B12 and vitamin D homeostasis. Amnionless is a plasma membrane protein that binds to cubilin in various epithelia; the interaction cubilin-amnionless in the gut is crucial for dietary vitamin B12 uptake. Studies in patients with gene defects in these receptors, and animal models with inactivated cubilin, megalin or amnionless suggest an important role in embryonic development and normal growth. In this review we will summarize recent data on the biological function of these receptors and focus on their implication in embryonic nutrition and central nervous system malformations.

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

    Energy Technology Data Exchange (ETDEWEB)

    Yakoumakis, E N; Gialousis, G I; Papadopoulou, Despina; Makri, Triantafillia; Pappouli, Zografia; Yakoumakis, Nikolaos; Papagiannis, Panayotis; Georgiou, Evangelos [Medical Physics Department, University of Athens, 75 Mikras Asias Street, Athens 11527 (Greece)], E-mail: gialousis@med.uoa.gr

    2009-06-15

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

  3. Comparison of inferior myocardial defect between planar and SPECT image of {sup 123}I-metaiodobenzylguanidine cardiac scintigraphy

    Energy Technology Data Exchange (ETDEWEB)

    Kobayashi, Hideki; Momose, Mitsuru; Kashikura, Kenichi; Matsumoto, Nobusuke; Saito, Katsumi; Asano, Ryuta; Hosoda, Saichi; Kusakabe, Kiyoko [Tokyo Women`s Medical Coll. (Japan)

    1995-02-01

    Discordant findings of inferior MIBG defect between SPECT and planar images were sometimes observed in the clinical studies. In this study, we compared inferior myocardial findings between planar and SPECT image of {sup 123}I-metaiodobenzyl-guanidine (MIBG) cardiac scintigraphy in 29 patients. All patients were estimated as normal in anterior accumulation of MIBG. The patients were divided into 3 groups according to the visual finding of inferior defect in the planar and SPECT image; normal group (normal inferior accumulation of MIBG both in the planar and SPECT image, N=10), discordance group (inferior MIBG defect was only observed in the SPECT image, but was not observed in the planar image, N=7), inferior defect group (inferior MIBG defect was observed both in the planar and SPECT image, N=12). Inferior/anterior count ratio of SPECT and planar image were 0.96{+-}0.11 vs. 0.97{+-}0.05 in normal group, 0.59{+-}0.21 vs. 0.99{+-}0.13 in discordance group, 0.46{+-}0.13 vs. 0.82{+-}0.04 in inferior defect group. Liver/heart count ratio was significantly higher in the discordance group (2.07{+-}0.49) than that in the normal (1.14{+-}0.15) and inferior defect group (1.45{+-}0.39). In phantom study, it has been reported that increased liver accumulation of MIBG causes artifactual inferior defect adjacent to the liver. These data indicate that increased liver/heart count ratio may cause artifactual inferior defect on MIBG SPECT image in the clinical studies. Planar image evaluation may be helpful to distinct the artifactual inferior defect on SPECT image. (author).

  4. Progresses of screening for congenital heart defects in neonates%新生儿先天性心脏病筛查的研究进展

    Institute of Scientific and Technical Information of China (English)

    胡晓静

    2014-01-01

    Congenital heart defect is the leading cause of infant death in the world.How to detect and diagnose earlier is the research hot spot.Different screening methods for congenital heart defects include prenatal echocardiography,physical examination and pulse oximetry screening etc.This article is to describe the implementation of CHD screening methods in recent years.Pulse oximetry should be added to the screening methods in our country.%先天性心脏病(congenital heart defects,CHD)是导致新生儿和婴幼儿死亡的主要原因.新生儿期及时发现和诊断CHD是降低死亡和减少并发症的重点,筛查新生儿CHD的方法包括产前心脏超声、体格检查、监测上下肢的血氧饱和度等.该文系统地介绍近年来国际上新生儿CHD筛查的方法和进展,提出需要更好地建立将产前胎儿超声检查、出生后体格检查以及血氧饱和度筛查相结合的科学有效的CHD筛查方案.

  5. Heart rhythm and conduction disturbances in early postoperative period after surgical correction for congenital heart defects in infants

    Directory of Open Access Journals (Sweden)

    Bockeria L. A.

    2012-03-01

    Full Text Available Objective. The study aimed to determine the range of rhythm and conduction disturbances in early postoperative period in infants and prove the prognostic value of some pre- and intraoperative factors for development of such complications. Material and methods. The study included 235 children aged from 1 to 3 years who underwent surgeries for congenital heart diseases (CHD under cardiopulmonary bypass (CPB. Exclusion criteria were: age less than 1 year or more than 3 years, presence of confirmed heart rhythm disturbances before surgery except incomplete or complete right bundle branch block in presence of right ventricular myocardial hypertrophy, left anterior bundle branch block in presence of partial or complete atrioventricular canal defect and sinus tachycardia equal to circulatory failure (CF. Results. Ventricular arrhythmias such as premature ventricular contraction (PVC of different character were frequently seen in early postoperative period after surgical correction of CHD. They were noted in 36% of overall number postoperative arrhythmias. Supraventricular extrasystole occurred in 29% cases, different types of supraventricular tachycardias – in 17%, AV-blocks of different grades – in 10%. We noted the following predictors for postoperative rhythm disturbance development: age more than 25 months at the moment of surgery, prolonged CPB and aortic cross-clamping during ventricular septal defect (VSD (70 and 39 minutes, respectively and Fallot’s tetralogy correction (100 and 60 minutes, respectively and exceeding the critical end-point of aortic cross-clamping during atrial septal defect correction (ASD (24 minutes, presence of IIA and IIb grade for CF before surgery, surgical correction of ASD under hypothermia of less than 32 °C. Exceeding the critical end-points of CPB and aortic clamping in patients with Fallot’s tetralogy and exceeding the critical end-points of aortic clamping in children with VSD and ASD were shown to be the

  6. Transcatheter Closure of Atrial Septal Defects Improves Cardiac Remodeling and Function of Adult Patients with Permanent Atrial Fibrillation

    Institute of Scientific and Technical Information of China (English)

    Liang Chen; Yuan Bai; Fei-Yu Wang; Zhi-Gang Zhang; Xing-Hua Shan; Tao Chen; Xian-Xian Zhao

    2015-01-01

    Background:Permanent atrial fibrillation (AF) is the most common form of dysrhythmia associated with atrial septal defects (ASDs) in patients older than 40 years.However,little is known about cardiac remodeling after transcatheter closure in patients with permanent AF.This study was designed to compare cardiac events and remodeling effects after transcatheter closure in such patients.Methods:Clinical data of 289 adult patients older than 40 years who underwent ASD closure at our center were analyzed retrospectively.Of them,63 patients with permanent AF were assigned to the case group,and the other 226 patients without permanent AF were assigned to the control group.Cardiac events and changes in left and right cardiac cavity dimensions before the procedure and 6 months after the procedure were compared between the two groups.Results:Patients in the case group were significantly older than those in the control group.The right ventricular (RV) volume and right atrial (RA) volume were decreased significantly in both the groups during a median follow-up period of 6 months after closure (P < 0.001).The left atrial dimensions,left ventricular end-systolic dimensions,left ventricular end-diastolic dimensions and left ventricular ejection fraction showed no significant change before and after the procedure in both the groups.Changes of the RV volume and RA volume in the case group were significantly smaller than those in the control group (P =0.005 and P < 0.001).The New York Heart Association cardiac function was improved in both the groups during the 6 months follow-up period.Conclusions:The transcatheter closure of ASD can improve the cardiac remodeling and cardiac function in patients with or without AF.

  7. Transcatheter Closure of Atrial Septal Defects Improves Cardiac Remodeling and Function of Adult Patients with Permanent Atrial Fibrillation

    Directory of Open Access Journals (Sweden)

    Liang Chen

    2015-01-01

    Full Text Available Background: Permanent atrial fibrillation (AF is the most common form of dysrhythmia associated with atrial septal defects (ASDs in patients older than 40 years. However, little is known about cardiac remodeling after transcatheter closure in patients with permanent AF. This study was designed to compare cardiac events and remodeling effects after transcatheter closure in such patients. Methods: Clinical data of 289 adult patients older than 40 years who underwent ASD closure at our center were analyzed retrospectively. Of them, 63 patients with permanent AF were assigned to the case group, and the other 226 patients without permanent AF were assigned to the control group. Cardiac events and changes in left and right cardiac cavity dimensions before the procedure and 6 months after the procedure were compared between the two groups. Results: Patients in the case group were significantly older than those in the control group. The right ventricular (RV volume and right atrial (RA volume were decreased significantly in both the groups during a median follow-up period of 6 months after closure (P < 0.001. The left atrial dimensions, left ventricular end-systolic dimensions, left ventricular end-diastolic dimensions and left ventricular ejection fraction showed no significant change before and after the procedure in both the groups. Changes of the RV volume and RA volume in the case group were significantly smaller than those in the control group (P = 0.005 and P < 0.001. The New York Heart Association cardiac function was improved in both the groups during the 6 months follow-up period. Conclusions: The transcatheter closure of ASD can improve the cardiac remodeling and cardiac function in patients with or without AF.

  8. 5th German cardiodiagnostic meeting 2013 with the 6th Leipzig Symposium on non-invasive cardiovascular imaging. Challenges and limit of the non-invasive cardiac imaging; 5. Deutsche Kardiodiagnostik-Tage 2013 mit 6. Leipziger Symposium Nichtinvasive Kardiovaskulaere Bildgebung. Herausforderungen und Grenzen der nicht-invasiven kardialen Bildgebung

    Energy Technology Data Exchange (ETDEWEB)

    NONE

    2013-04-01

    The proceedings on the German cardiodiagnostic meeting 2013 together with the 6th Leipzig Symposium on non-invasive cardiovascular imaging include abstracts concerning the following topics: Imaging in the rhythmology; adults with congenital cardiac defects; cardiac myopathies - myocarditis; cardiac valves (before and after transcutaneous valve replacement); coronary heart diseases; technical developments.

  9. [Genetics of congenital color vision defects. II. Rare types of color blindness].

    Science.gov (United States)

    Krawczyński, M R

    1995-01-01

    Between the rare types of colour blindness, the known best are defects of blue colour vision, which are called tritanopia or trinanomaly (tritanomalous trichromacy). Their incidence is 1 in 500 and they are inherited in autosomal dominant way with incomplete penetrance. The basis of them are mutations of the short (blue) wavelength sensitive visual pigment gene. The gene has been mapped on the chromosome 7 and has already been cloned and sequenced. However, the loci heterogeneity should not be excluded in that condition. Another rare type of colour blindness in blue cone monochromacy. It is based on the cone sensitivity to short (blue) wavelength only. The condition is inherited in X-linked recessive way and it is known, that it can be caused by 2 different mechanisms. The first one--two-step pathway--consists of green cone pigment gene deletion, and point mutation of red cone pigment gene. The second one--one-step pathway--arose by deletion of regulatory sequence of both genes of visual pigments, mapped on the X chromosome. Different types of total and partial achromatopsia are also described. The best known ones are: rod monochromacy, which is inherited in autosomal recessive way and consist of rod vision only, and cone dystrophy, usually inherited in X-linked recessive way.

  10. Congenital Left Ventricular Diverticulum Associated with ASD, VSD, and Epigastric Hernia

    Directory of Open Access Journals (Sweden)

    Seyed Mohammad Dalili

    2008-12-01

    Full Text Available Congenital left ventricular diverticulum is a rare cardiac malformation. Two categories of congenital ventricular diverticulum have been identified with regard to their localization: apical and non-apical. Apical diverticula are always associated with midline thoraco-abdominal defects and other heart malformations. Non-apical diverticula are always isolated defects. Diagnosis is established by imaging studies such as echocardiography, magnetic resonance imaging, or left ventricular angiography. Mode of treatment has to be individually tailored and depends on clinical presentation, accompanying abnormalities, and possible complications. We report a 10-month-old girl with left ventricular apical diverticulum, large atrial septal defect, two small muscular ventricular septal defects, and pulmonary hypertension, associated with epigastric hernia. This patient underwent total surgical repair for intra-cardiac defects as well as diverticular resection.

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

    Directory of Open Access Journals (Sweden)

    Juang Jyh-Ming

    2009-02-01

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

  12. Recent progress of pediatric cardiac surgery in China

    Institute of Scientific and Technical Information of China (English)

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

    2006-01-01

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

  13. Frecuencia y tendencia temporal de los defectos congénitos en Asturias: La necesidad de la vigilancia clinicoepidemiológica Prevalence and secular trend of congenital defects in Asturias, Spain: The need for clinical-epidemiological surveillance

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    Carmen Mosquera Tenreiro

    2009-08-01

    fifth years of life in Asturias. These anomalies generate substantial morbidity. The aim of the present study was to describe the population-based frequency of congenital defects in Asturias and their forms of presentation. Methods: Data from the population-based Registry of Congenital Defects of Asturias for 1990-2004 were analyzed. The data related to live births, stillbirths and induced abortions after prenatal diagnosis and are presented as birth prevalence and total prevalence (including induced abortions. Results: The total number of births was 103,452 and there were 3,035 cases of congenital defects, representing a total prevalence of 2.9 cases per 100 births and a birth prevalence of 2.5%. These figures showed a tendency to increase throughout the study period. A total of 2,516 (82.9% cases were live births, 46 (1.5% were stillbirths and 473 (15.6% were induced abortions. Prenatal diagnosis increased throughout the period. Sixtythree percent of total cases showed an isolated defect, 17% a recognized syndrome and the remaining 20% had multiple malformations without a syndromic pattern. The most frequent and severe defects registered were neural tube defects (12.2 per 10,000 births, chromosomal abnormalities (34.4 per 10,000, and cardiac defects (75.2 per 10,000. Conclusions: The 15-year experience of the Registry of Congenital Defects of Asturias reveals the utility of this type of database to evaluate prenatal screening programs, plan the resources needed in affected pregnant women and infants, and perform epidemiological surveillance of congenital defects in relation to environmental risks, drug exposure and assisted reproduction techniques.

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

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    Mustafa Yıldız

    2012-08-01

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

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

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    Satoshi Kurokawa

    2014-04-01

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

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

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

    2012-12-15

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

  17. Maternal socioeconomic status and the risk of congenital heart defects in offspring: a meta-analysis of 33 studies.

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    Di Yu

    Full Text Available BACKGROUND: We conducted this meta-analysis to address the open question of a possible association between maternal socioeconomic status and congenital heart defects (CHDs. METHODS: We searched MEDLINE and EMBASE from their inception to January 1, 2014 for case-control and cohort studies that assessed the association between maternal socioeconomic status and the risk of CHDs. Study-specific relative risk estimates were polled according to random-effect or fixed-effect models. RESULTS: From 3343 references, a total of 31 case-control studies and 2 cohort studies were enrolled in this meta-analysis, including more than 50,000 cases. We observed that maternal educational attainment, family income and maternal occupation were negatively associated with an 11% (pooled RR = 1.11, 95% CI: 1.03, 1.21, 5% (pooled RR = 1.05, 95% CI: 1.01, 1.09 and 51% (pooled RR = 1.51, 95% CI: 1.02, 2.24 increased risk of CHDs, respectively. In a subgroup analysis by geographic region, the results were inconsistent for the European region (RR = 1.29, 95% CI: 0.99-1.69 and USA/Canada region (RR = 1.06, 95% CI: 0.97, 1.16 in maternal educational attainment. CONCLUSION: In summary, this meta-analysis suggests that a lower degree of maternal socioeconomic status is modestly associated with an increased risk of CHDs. However, further investigations are needed to confirm the association.

  18. Maternal Hypertension During Pregnancy and the Risk of Congenital Heart Defects in Offspring: A Systematic Review and Meta-analysis.

    Science.gov (United States)

    Ramakrishnan, Anushuya; Lee, Laura J; Mitchell, Laura E; Agopian, A J

    2015-10-01

    Maternal hypertension is common during pregnancy, and multiple studies have reported on an association between maternal hypertension and congenital heart defects (CHDs) in offspring; however, there is variability in the quality of these studies. A systematic review and meta-analysis was conducted on the associations between untreated and treated maternal hypertension and the risk of CHDs, evaluating CHDs overall as well as specific CHD subtypes. A systematic search of peer-reviewed articles published before August 2013 identified 16 studies evaluating the associations between untreated and treated maternal hypertension and CHDs. Summary relative risk (RR) estimates were calculated using fixed-effects models and random-effects models. Significant associations were observed between maternal hypertension and overall CHDs, for both treated [RR 2.0; 95 % confidence interval (CI) 1.5, 2.7] and untreated (RR 1.4; 95 % CI 1.2, 1.7) hypertension, as well as for overall hypertension regardless of treatment status (RR 1.8; 95 % CI 1.5, 2.2). The magnitude of effect was similar for the majority of CHD subtypes evaluated. The effects were also similar among women with hypertension who used one of multiple specific hypertension medications. There was no evidence of publication bias, and our results were robust to several factors considered in sensitivity analyses (e.g., source of exposure data, adjustment for potential confounders, and study design). Maternal hypertension was associated with CHDs. By understanding the specific mechanisms involved, appropriate strategies may be developed to reduce this risk, in order to prevent CHDs.

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

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    Vishwanath

    2015-06-01

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

  20. Congenital cardiovascular malformations and the fetal circulation.

    Science.gov (United States)

    Rudolph, A M

    2010-03-01

    After birth, gas exchange is achieved in the lung, whereas prenatally it occurs in the placenta. This is associated with differences in blood flow patterns in the fetus as compared with the postnatal circulation. Congenital cardiovascular malformations are associated with haemodynamic changes in the fetus, which differ from those occurring postnatally. Obstruction to cardiac outflow may alter myocardial development, resulting in progressive ventricular hypoplasia. Alteration of oxygen content may profoundly influence pulmonary vascular and ductus arteriosus responses. Interference in blood flow and oxygen content may affect cerebral development as a result of inadequate oxygen or energy substrate supply. The circulatory effects may be gestational dependent, related to maturation of vascular responses in different organs. These prenatal influences of congenital cardiac defects may severely affect immediate, as well as longterm, postnatal prognosis and survival. This has stimulated the development of techniques for palliation of disturbed circulation during fetal life.

  1. Risk factors in the origin of congenital left-ventricular outflow-tract obstruction defects of the heart: a population-based case-control study.

    Science.gov (United States)

    Csáky-Szunyogh, Melinda; Vereczkey, Attila; Kósa, Zsolt; Gerencsér, Balázs; Czeizel, Andrew E

    2014-01-01

    The aim of our project was to study possible etiological factors in the origin of congenital heart defects (CHDs) because in the majority of patients the underlying causes are unclear. Cases with different CHD entities as homogeneously as possible were planned for evaluation in the population-based large data set of the Hungarian Case Control Surveillance of Congenital Abnormalities. Dead or surgically corrected 302 live-born cases with different types of left-ventricular outflow tract obstructive defects (LVOT, i.e., valvular aortic stenosis 76, hypoplastic left heart syndrome 76, coarctation of the aorta 113, and other congenital anomalies of aorta 32) were compared with 469 matched controls, 38,151 controls without any defects, and 20,750 malformed controls with other isolated defects. Medically recorded pregnancy complications and chronic diseases were evaluated based on prenatal maternity logbooks, whereas acute diseases, drug treatments, and folic acid/multivitamin supplementation were analyzed both on the basis of retrospective maternal information and medical records. The results of the study showed the role of maternal diabetes in the origin of LVOT in general, while panic disorder was associated with a higher risk of hypoplastic left heart syndrome and ampicillin treatment with a higher risk of coarctation of the aorta (COA). High doses of folic acid had a protective effect regarding the manifestation of LVOT, particularly COA. In conclusion, only a minor portion of causes was shown in our study; thus, further studies are needed to understand better the underlying causal factors in the origin of LVOT.

  2. Fibrinogen Vicenza and Genova II: two new cases of congenital dysfibrinogenemia with isolated defect of fibrin monomer polymerization and inhibitory activity on normal coagulation.

    Science.gov (United States)

    Rodeghiero, F; Castaman, G C; Dal Belin Peruffo, A; Dini, E; Galletti, A; Barone, E; Gastaldi, G

    1987-06-01

    Two new cases of congenital dysfibrinogenemia are presented in which defective fibrin monomer polymerization and inhibitory activity on normal coagulation were observed. They have been tentatively called fibrinogen Vicenza and Genova II. The first was discovered in a family with mild bleeding diathesis, the second in an asymptomatic family. In almost all reported cases of fibrinogens with defective fibrin monomer polymerization, additional functional or structural defects have been detected. In our cases, on the contrary, detailed investigations failed to show any other abnormality. Fibrinogen Genova II is apparently identical to fibrinogen Baltimore IV, whereas fibrinogen Vicenza is similar to fibrinogen Troyes and Genova I, but also exerts an evident inhibitory activity on normal coagulation and differs from fibrinogen Genova II and Baltimore IV showing a different kinetic pattern of fibrin monomer polymerization.

  3. Molecular Signatures of Cardiac Defects in Down Syndrome Lymphoblastoid Cell Lines Suggest Altered Ciliome and Hedgehog Pathways

    Science.gov (United States)

    Ripoll, Clémentine; Rivals, Isabelle; Ait Yahya-Graison, Emilie; Dauphinot, Luce; Paly, Evelyne; Mircher, Clothilde; Ravel, Aimé; Grattau, Yann; Bléhaut, Henri; Mégarbane, André; Dembour, Guy; de Fréminville, Bénédicte; Touraine, Renaud; Créau, Nicole; Potier, Marie Claude; Delabar, Jean Maurice

    2012-01-01

    Forty percent of people with Down syndrome exhibit heart defects, most often an atrioventricular septal defect (AVSD) and less frequently a ventricular septal defect (VSD) or atrial septal defect (ASD). Lymphoblastoid cell lines (LCLs) were established from lymphocytes of individuals with trisomy 21, the chromosomal abnormality causing Down syndrome. Gene expression profiles generated from DNA microarrays of LCLs from individuals without heart defects (CHD−; n = 22) were compared with those of LCLs from patients with cardiac malformations (CHD+; n = 21). After quantile normalization, principal component analysis revealed that AVSD carriers could be distinguished from a combined group of ASD or VSD (ASD+VSD) carriers. From 9,758 expressed genes, we identified 889 and 1,016 genes differentially expressed between CHD− and AVSD and CHD− and ASD+VSD, respectively, with only 119 genes in common. A specific chromosomal enrichment was found in each group of affected genes. Among the differentially expressed genes, more than 65% are expressed in human or mouse fetal heart tissues (GEO dataset). Additional LCLs from new groups of AVSD and ASD+VSD patients were analyzed by quantitative PCR; observed expression ratios were similar to microarray results. Analysis of GO categories revealed enrichment of genes from pathways regulating clathrin-mediated endocytosis in patients with AVSD and of genes involved in semaphorin-plexin-driven cardiogenesis and the formation of cytoplasmic microtubules in patients with ASD-VSD. A pathway-oriented search revealed enrichment in the ciliome for both groups and a specific enrichment in Hedgehog and Jak-stat pathways among ASD+VSD patients. These genes or related pathways are therefore potentially involved in normal cardiogenesis as well as in cardiac malformations observed in individuals with trisomy 21. PMID:22912673

  4. Molecular signatures of cardiac defects in Down syndrome lymphoblastoid cell lines suggest altered ciliome and Hedgehog pathways.

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    Clémentine Ripoll

    Full Text Available Forty percent of people with Down syndrome exhibit heart defects, most often an atrioventricular septal defect (AVSD and less frequently a ventricular septal defect (VSD or atrial septal defect (ASD. Lymphoblastoid cell lines (LCLs were established from lymphocytes of individuals with trisomy 21, the chromosomal abnormality causing Down syndrome. Gene expression profiles generated from DNA microarrays of LCLs from individuals without heart defects (CHD(-; n = 22 were compared with those of LCLs from patients with cardiac malformations (CHD(+; n = 21. After quantile normalization, principal component analysis revealed that AVSD carriers could be distinguished from a combined group of ASD or VSD (ASD+VSD carriers. From 9,758 expressed genes, we identified 889 and 1,016 genes differentially expressed between CHD(- and AVSD and CHD(- and ASD+VSD, respectively, with only 119 genes in common. A specific chromosomal enrichment was found in each group of affected genes. Among the differentially expressed genes, more than 65% are expressed in human or mouse fetal heart tissues (GEO dataset. Additional LCLs from new groups of AVSD and ASD+VSD patients were analyzed by quantitative PCR; observed expression ratios were similar to microarray results. Analysis of GO categories revealed enrichment of genes from pathways regulating clathrin-mediated endocytosis in patients with AVSD and of genes involved in semaphorin-plexin-driven cardiogenesis and the formation of cytoplasmic microtubules in patients with ASD-VSD. A pathway-oriented search revealed enrichment in the ciliome for both groups and a specific enrichment in Hedgehog and Jak-stat pathways among ASD+VSD patients. These genes or related pathways are therefore potentially involved in normal cardiogenesis as well as in cardiac malformations observed in individuals with trisomy 21.

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

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    Mohamed Abdel Megied Abo El-Magd

    2013-04-01

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

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

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    Gladis Barberis Pérez

    2008-04-01

    Full Text Available

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

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

  7. Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China.

    Science.gov (United States)

    Huang, C; Yang, Y-F; Zhang, H; Xie, L; Chen, J-L; Wang, J; Tan, Z-P; Luo, H

    2012-08-13

    Smith-Magenis syndrome (SMS) is a rare syndrome with multiple congenital malformations, including development and mental retardation, behavioral problems and a distinct facial appearance. SMS is caused by haploinsufficiency of RAI1 (deletion or mutation of RAI1). We describe an eight-year-old female Chinese patient with multiple malformations, congenital heart defect, mental retardation, and behavioral problems (self hugging, sleeping disturbance). High-resolution genome wide single nucleotide polymorphism array revealed a 3.7-Mb deletion in chromosome region 17p11.2. This chromosome region contains RAI1, a critical gene involved in SMS. To the best of our knowledge, this is the first report of an SMS patient in mainland China.

  8. A case of pancreatic agenesis and congenital heart defects with a novel GATA6 nonsense mutation: evidence of haploinsufficiency due to nonsense-mediated mRNA decay.

    Science.gov (United States)

    Suzuki, Shigeru; Nakao, Atsushi; Sarhat, Ashoor R; Furuya, Akiko; Matsuo, Kumihiro; Tanahashi, Yusuke; Kajino, Hiroki; Azuma, Hiroshi

    2014-02-01

    Recently, GATA6 heterozygous loss-of-function mutations were reported to cause pancreatic agenesis and congenital heart defects (PACHD [OMIM:600001]). However, the molecular mechanisms resulting from premature termination codons have not been examined in this disorder. The objective of this study was to perform a genetic analysis of a patient with PACHD. A female patient presented with ventricular septal defect, patent ductus arteriosus, and congenital diaphragmatic hernia at birth. Permanent neonatal diabetes mellitus and pancreatic exocrine deficiency due to pancreatic agenesis was diagnosed at 1 month of age. PCR-direct sequencing of GATA6 revealed that the patient is heterozygous for a novel de novo nonsense mutation of c.1477C>T, p. Arg493X in exon 5. RT-PCR direct sequencing of the RT-PCR products of total RNA from peripheral blood of the patient for the region encompassing exons 4-6 revealed only the wild-type allele. This finding provides the evidence for the occurrence of nonsense-mediated mRNA decay (NMD) in the p.Arg493X mutation. Quantitative RT-PCR analysis revealed that the expression of GATA6 transcript in the patient was less than half compared with normal control samples. This is the first evidence that GATA6 haploinsufficiency is caused by NMD in vivo, and we conclude that GATA6 haploinsufficiency causes not only PACHD but may affect other organs derived from the endoderm. Further screenings of GATA6 mutations in patients with various forms of diabetes and/or congenital heart disease with other visceral malformation may reveal the impact of GATA6 mutations on diabetes and congenital malformation.

  9. Prenatal Diagnosis and Management for Congenital Intrapericardial Diaphragmatic Hernia with Massive Cardiac Effusion: A Case Report and Literature Review

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    Ching-Chang Hsieh

    2015-03-01

    Full Text Available Congenital intrapericardial diaphragmatic hernia with massive pericardial effusion is a rare type of Morgagni hernia. Since 1980, there have been only 16 reported cases. We report on the imaging features of such a case that was diagnosed in utero. The prognosis of congenital intrapericardial diaphragmatic hernia is better than the other types of congenital diaphragmatic hernia, but lung hypoplasia due to compression by the pericardial effusion is not uncommon. Early intervention and treatment should be given to improve the perinatal outcome once the prenatal diagnosis has been made. We have summarized current diagnostic methods and management for this rare phenotype, after reviewing previous case reports and articles relating to the intervention for congenital diaphragmatic hernia.

  10. Pulmonary arterial hypertension in congenital cardiac disease - the need for refinement of the Evian-Venice classification

    NARCIS (Netherlands)

    van Albada, Mirjam E.; Berger, Rolf M. F.

    2008-01-01

    Pulmonary hypertension associated with congenital systemic-to-pulmonary shunts has been classified, in the Evian-Venice classification, as Pulmonary Arterial Hypertension, which includes a heterogeneous group of conditions. Emerging options for treatment of patients with pulmonary arterial hypertens

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

    Science.gov (United States)

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

    2004-05-01

    This study represents the development and validation of a cardiac-specific module of the generic health-related quality of life (HRQoL) instrument, the TAAQOL (TNO/AZL Adult Quality Of Life), for young adults with congenital heart disease (CHD). Items were selected based on literature, an explorative previous study in CHD patients, interviews with patients, and the advice of experts. The newly developed Congenital Heart Disease-TNO/AZL Adult Quality of Life (CHD-TAAQOL) was tested in 156 patients with mild or complex CHD and consisted of three hypothesised subject scales: 'Symptoms' (9 items), 'Impact Cardiac Surveillance' (7 items), and 'Worries' (10 items). Cronbach's alpha for the three scales were 0.77, 0.78, and 0.82, respectively. Scale structure was confirmed by Principal Component Analysis, corrected item-scale and interscale correlations. Overall, 55% of reported health status problems were associated with negative emotions, which is an argument for assessing HRQoL as a concept distinct from health status. Convergent validity with validated generic instruments (TAAQOL and Short Form-36, SF-36) showed satisfactory coefficients. Discriminant validity was proven by significantly higher scores for mild CHD patients compared with those with complex CHD. In conclusion, the CHD-TAAQOL module together with the generic TAAQOL can be used to assess group differences for cardiac-specific HRQoL in young adults with CHD. Testing psychometric properties of the CHD-TAAQOL shows satisfactory results. However, to detect changes in HRQoL over time, further research is needed.

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

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    Rafael Fabiano M. Rosa

    2011-06-01

    the 22q11 deletion syndrome and its as-sociation with congenital heart defects. DATA SOURCES: Medline, Lilacs and SciELO databases were searched from 1980 to 2009 using specific descrip-tors as "22q11", "DiGeorge syndrome", "velocardiofacial syndrome", "congenital heart defects" and "cardiovascular malformations". DATA SYNTHESIS: Heart malformations are the most fre-quent congenital defects at birth and represent an important Public Health problem. The 22q11 deletion syndrome, also called DiGeorge syndrome, velocardiofacial syndrome and CATCH22, stands out as one of the main known causes of congenital heart defects. This is an autosomal dominant genetic disease characterized by a highly variable phenotype, which renders its difficult clinical identification. In addition, the majority of the patients present a microdeletion identified mainly by molecular cytogenetic techniques as fluorescent in situ hybridization, which are rarely available in Brazil. Similarly to other syndromes, 22q11 deletion syndrome is associated to some specific heart defects, espe-cially conotruncal. It is still not clear which patients with congenital heart defect should be screened for 22q11 dele-tion syndrome. CONCLUSIONS: Cardiologists and cardiac surgeons, particu-larly the pediatric ones, must be aware about the features and health care related to 22q11 deletion syndrome. Subjects with the syndrome very often present abnormalities of mul-tiple systems, that could result in difficulties and complica-tions during their clinical and surgical course.

  13. Minimally invasive per-catheter occlusion and dilation procedures for congenital cardiovascular abnormalities in dogs.

    Science.gov (United States)

    Tobias, Anthony H; Stauthammer, Christopher D

    2010-07-01

    With ever-increasing sophistication of veterinary cardiology, minimally invasive per-catheter occlusion and dilation procedures for the treatment of various congenital cardiovascular abnormalities in dogs have become not only available, but mainstream. Much new information about minimally invasive per-catheter patent ductus arteriosus occlusion has been published and presented during the past few years. Consequently, patent ductus arteriosus occlusion is the primary focus of this article. Occlusion of other less common congenital cardiac defects is also briefly reviewed. Balloon dilation of pulmonic stenosis, as well as other congenital obstructive cardiovascular abnormalities is discussed in the latter part of the article.

  14. Three-dimensional echocardiographic assessment of atrial septal defects

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    Charles German

    2015-01-01

    Full Text Available Echocardiography provides a useful tool in the diagnosis of many congenital heart diseases, including atrial septal defects, and aids in further delineating treatment options. Although two-dimensional echocardiography has been the standard of care in this regard, technological advancements have made three-dimensional echocardiography possible, and the images obtained in this new imaging modality are able to accurately portray the morphology, location, dimensions, and dynamic changes of defects and many other heart structures during the cardiac cycle.

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

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    Clairton Marcolongo-Pereira

    2010-10-01

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

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

    NARCIS (Netherlands)

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

    2012-01-01

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

  17. Real-time observation of cardiac movement and structures in congenital and acquired heart diseases employing high-speed ultrasonocardiotomography.

    Science.gov (United States)

    Nishimura, K; Hibi, N; Kato, T; Fukui, Y; Arakawa, T

    1976-09-01

    Echocardiography has proved useful for cardiac diagnosis during the past several years; however, the conventional one-dimensional ultrasound pulse echo method cannot easily visualize the anatomical relationships of the various cardiac structures. To overcome the limitation, the authors attempted a real-time observation of cardiac structures and introduced high-speed ultrasonocardiotomography with a Sonolayergraph Model SSL-51H (Toshiba) having a logarithmic amplifier. Thirty sector images are produced per second by a mechanically operated, single flat or 75 mm. focus transducer measuring 10 mm. in diameter. The angle of a sector image composed of about 120 scanning lines is arbitrarily changeable from null to 65 degrees. The fast succession of images produced enables clear observation of the movement of cardiac structures in real time. Study of 230 patients by means of the proposed system suggests that it is advantageous as a quick method to provide two-dimensional echocardiograms for cardiac diagnosis and assessment, especially in noninvasive diagnosis.

  18. Single-Stage Repair of an Unusual Association: Congenital Gerbode Defect, Hypoplastic Aortic Arch, and Partially Anomalous Pulmonary Venous Return in an Infant.

    Science.gov (United States)

    Flores, Saul; Kimball, Thomas R; Nelson, David P; Morales, David L S

    2016-07-01

    We present the case of a two-month-old male with congenital Gerbode defect, hypoplastic aortic arch, and left-sided partially anomalous pulmonary venous return. The patient underwent single-stage surgical repair, which consisted of aortic arch advancement with resection of the coarctation segment, pulmonary vein repair, and primary closure of the Gerbode defect. The anomalous pulmonary vein posed a particular challenge due to its size and distance from the left atrium, which we approached with a posterior atrial wall trapdoor baffle technique, without mobilizing the affected vein. Postoperatively and at one year follow-up, there was no evidence of residual lesions and there was unobstructed flow pattern across the aortic arch and the affected pulmonary vein.

  19. 胎儿先天性室间隔缺损的染色体核型分析%Study of chromosome karyotype in congenital ventricular septal defect of fetus

    Institute of Scientific and Technical Information of China (English)

    高金梅; 关云萍; 项宇识; 闫峰; 李冬梅

    2013-01-01

    目的:通过产前诊断分析先天性胎儿室间隔缺损与染色体核型的相关性。方法:回顾性分析我院产前超声诊断胎儿发育异常并进行脐静脉血穿刺染色体核型分析的患者387例,对其中单纯室间隔缺损或室间隔缺损伴发其他结构异常的病例74例进行分析。结果:74例病例中,脐血穿刺血细胞培养成功72例,培养失败2例。72例病例中,产前超声诊断单纯室间隔缺损12例,染色体核型结果均正常;产前超声诊断室间隔缺损伴发其他结构异常60例,其中染色体核型异常者17例(18-三8例、13-三体3例、21-三体4例、其他2例),染色体核型正常者43例。结论:胎儿心脏室间隔缺损伴发其他结构异常时较单纯室间隔缺损出现染色体异常的几率大。%Objective:To analyse the correlations between congenital ventricular septal defects and fetal karyotype through prenatal diagnosis.Methods:A retrospective analysis of 387 cases who diagnosed with fetal abnormalities and carried on umbilical vein puncture for karyotype analysis in our hospital through prenatal ultrasound diagnosis. among which, 74 cases with the ventricular septal defect or ventricular septal defect simply associated with other structural abnormalities were analyzed.Results:In the 74 cases, 72 cases were successful y cultured in the umbilical cord blood cells, 2 cases were cultured failure. 12 cases were diagnosed with ventricular septal defect simply in prenatal ultrasound diagnosis in the 72 cases, karyotype of the 12 cases were al normal; 60 cases were diagnosed with ventricular septal defect associated with other structural abnormalities in prenatal ultrasound diagnosisin the 72 cases, in which chromosome abnormalities were 17 cases (8 cases of 18-trisomy syndrome;3 cases of 13-trisomy syndrom;4 cases of 21-trisomy syndrom;2 cases of other chromosomal abnormalities), normal karyotype were 43 cases.Conclusion:Fetal cardiac

  20. 供体先天性室间隔缺损心脏移植1例%Donor congenital ventricular septal defect heart transplantation in one case

    Institute of Scientific and Technical Information of China (English)

    仲崇俊; 王春生; 薛群; 陆晨希; 许一鸣; 高增栋

    2008-01-01

    本例心脏移植受者为终末期扩张性心肌病患者,供体为先天性室间隔缺损患者,进行原位双腔心脏移植,随访4年结果满意.在当前供体紧缺的情况下,对于一些存在先天性缺陷的供体,适当处理后应用也能取得满意的临床效果.%The receptor of the heart transplantation was a patient with terminal dilated cardiomyopathy, the donor was a patient with congenital ventricular septal defect, in situ double-chamber heart transplantation was performed, and the result of the four-year follow-up was satisfactory. At present, donor is deficient,and those donors with congenital defect can also obtain satisfactory clinical application effects after appropriate handling.

  1. Cardiac and Skeletal Muscle Defects in a Mouse Model of Human Barth Syndrome*

    Science.gov (United States)

    Acehan, Devrim; Vaz, Frederic; Houtkooper, Riekelt H.; James, Jeanne; Moore, Vicky; Tokunaga, Chonan; Kulik, Willem; Wansapura, Janaka; Toth, Matthew J.; Strauss, Arnold; Khuchua, Zaza

    2011-01-01

    Barth syndrome is an X-linked genetic disorder caused by mutations in the tafazzin (taz) gene and characterized by dilated cardiomyopathy, exercise intolerance, chronic fatigue, delayed growth, and neutropenia. Tafazzin is a mitochondrial transacylase required for cardiolipin remodeling. Although tafazzin function has been studied in non-mammalian model organisms, mammalian genetic loss of function approaches have not been used. We examined the consequences of tafazzin knockdown on sarcomeric mitochondria and cardiac function in mice. Tafazzin knockdown resulted in a dramatic decrease of tetralinoleoyl cardiolipin in cardiac and skeletal muscles and accumulation of monolysocardiolipins and cardiolipin molecular species with aberrant acyl groups. Electron microscopy revealed pathological changes in mitochondria, myofibrils, and mitochondrion-associated membranes in skeletal and cardiac muscles. Echocardiography and magnetic resonance imaging revealed severe cardiac abnormalities, including left ventricular dilation, left ventricular mass reduction, and depression of fractional shortening and ejection fraction in tafazzin-deficient mice. Tafazzin knockdown mice provide the first mammalian model system for Barth syndrome in which the pathophysiological relationships between altered content of mitochondrial phospholipids, ultrastructural abnormalities, myocardial and mitochondrial dysfunction, and clinical outcome can be completely investigated. PMID:21068380

  2. Ventricular septal defect (image)

    Science.gov (United States)

    Ventricular septal defect is a congenital defect of the heart, that occurs as an abnormal opening in ... wall that separates the right and left ventricles. Ventricular septal defect may also be associated with other ...

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

    Science.gov (United States)

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

    2010-01-01

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

  4. Admission to a dedicated cardiac intensive care unit is associated with decreased resource use for infants with prenatally diagnosed congenital heart disease.

    Science.gov (United States)

    Johnson, Joyce T; Tani, Lloyd Y; Puchalski, Michael D; Bardsley, Tyler R; Byrne, Janice L B; Minich, L LuAnn; Pinto, Nelangi M

    2014-12-01

    Many factors in the delivery and perinatal care of infants with a prenatal diagnosis of congenital heart disease (CHD) have an impact on outcome and costs. This study sought to determine the modifiable factors in perinatal management that have an impact on postnatal resource use for infants with CHD. The medical records of infants with prenatally diagnosed CHD (August 2006-December 2011) who underwent cardiac surgery before discharge were reviewed. The exclusion criteria ruled out prematurity and intervention or transplantation evaluation before surgery. Clinical characteristics, outcomes, and cost data were collected. Multivariate linear regression models were used to determine the impact of perinatal decisions on hospitalization cost and surrogates of resource use after adjustment for demographic and other risk factors. For the 126 patients who met the study criteria, the median hospital stay was 22 days (range 4-122 days), and the median inflation-adjusted total hospital cost was $107,357 (range $9,746-602,320). The initial admission to the neonatal versus the cardiac intensive care unit (NICU vs. CICU) was independently associated with a 19 % longer hospital stay, a 26 % longer ICU stay, and 47 % more mechanical ventilation days after adjustment for Risk Adjustment for Congenital Heart Surgery, version 1 score, gestation age, genetic abnormality, birth weight, mode of delivery, and postsurgical complications. Weekend versus weekday delivery was not associated with hospital cost or length of hospital stay. For term infants with prenatally diagnosed CHD undergoing surgery before discharge, preoperative admission to the NICU (vs. the CICU) resulted in a longer hospital stay and greater intensive care use. Prenatal planning for infants with CHD should consider the initial place of admission as a modifiable factor for potential lowering of resource use.

  5. Congenital heart disease and chromossomopathies detected by the karyotype

    Directory of Open Access Journals (Sweden)

    Patrícia Trevisan

    2014-06-01

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

  6. Genetics of congenital hypothyroidism

    OpenAIRE

    Park, S.; Chatterjee, V

    2005-01-01

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

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

    Science.gov (United States)

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

    2016-05-31

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

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

    Directory of Open Access Journals (Sweden)

    Dinaldo de Lima Leite

    2010-03-01

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

  9. Clinical impact of left ventricular eccentricity index using cardiac MRI in assessment of right ventricular hemodynamics and myocardial fibrosis in congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

    Yamasaki, Yuzo; Kamitani, Takeshi; Yamanouchi, Torahiko; Honda, Hiroshi [Kyushu University, Departments of Clinical Radiology, Graduate School of Medical Sciences, Fukuoka (Japan); Nagao, Michinobu; Kawanami, Satoshi [Kyushu University, Molecular Imaging and Diagnosis, Graduate School of Medical Sciences, Fukuoka (Japan); Yamamura, Kenichiro [Kyushu University, Pediatrics, Graduate School of Medical Sciences, Fukuoka (Japan); Sakamoto, Ichiro [Kyushu University, Cardiovascular Medicine, Graduate School of Medical Sciences, Fukuoka (Japan); Yabuuchi, Hidetake [Kyushu University, Health SciencesGraduate School of Medical Sciences, Fukuoka (Japan)

    2016-10-15

    To investigate the utility of eccentricity index (EI) using cardiac cine MRI for the assessment of right ventricular (RV) hemodynamics in congenital heart disease (CHD). Fifty-five patients with CHD (32 women; mean age, 40.7 ± 20.9 years) underwent both cardiac MRI and right heart catheterization. EI was defined as the ratio of the distance between the anterior-posterior wall and the septal-lateral wall measured in the short-axis of mid-ventricular cine MRI. Correlations between EIs and RV hemodynamic parameters were analyzed. EIs were compared between patients with and without late gadolinium enhancement (LGE). A strong correlation between mean pulmonary artery pressure (PAP) and systolic EI (r = 0.81, p < 0.0001) and a moderate negative correlation between diastolic EI and RV ejection fraction (EF) (r = -0.62, p < 0.0001) were observed. Receiver operating characteristic analysis revealed optimal EI thresholds for detecting patients with mean PAP ≥40 mmHg with C-statistics of 0.90 and patients with RVEF <40 % with C-statistics of 0.78. Systolic EIs were significantly greater for patients with LGE (1.45 ± 0.05) than for those without LGE (1.15 ± 0.07; p < 0.001). EI offers a simple, comprehensive index that can predict pulmonary hypertension and RV dysfunction in CHD. (orig.)

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

    Institute of Scientific and Technical Information of China (English)

    张伟志; 杨一峰; 黄灿; 赵天力

    2012-01-01

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

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

    Science.gov (United States)

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

    2016-04-01

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

  12. Medico-legal aspects of congenital heart diseases in buying and selling of pets

    Science.gov (United States)

    Passantino, Annamaria; Pugliese, Michela; Quartarone, Valeria; Russo, Natalia; Bussadori, Roberto; Guercio, Bartolomeo

    2017-01-01

    Aim: The veterinarian should be able to assess congenital and inherited malformations such as heart defects because they may be object of legal disputes. In this study, the authors report some cases of congenital heart defects in pets (dogs and cats) to clarify whether or not they may be considered a redhibitory defect. Materials and Methods: A total of 28 medical records of pets referred with suspected congenital heart disease were examined. All patients aged between 3 and 24 months underwent clinical examination, chest X-ray examination, electrocardiogram, and echocardiography and angiocardiography when necessary. Results: Congenital heart diseases or associated cardiac malformations were confirmed. Considering the above congenital diseases as redhibitory defect and the rights of the owners from a strictly legal viewpoint, 9 owners demanded an estimatory action and 11 a redhibitory action; 1 owner decided to demand the reimbursement of veterinary expenses because the animal died; 7 owners took no legal action but requested surgical intervention. Conclusions: Until more appropriate and detailed legislation on the buying and selling of pet animals is put in place; the authors propose to include in the contract a temporal extension of the guarantee relating to congenital heart disease, which can often become evident later. PMID:28246457

  13. Medico-legal aspects of congenital heart diseases in buying and selling of pets

    Directory of Open Access Journals (Sweden)

    Annamaria Passantino

    2017-01-01

    Full Text Available Aim: The veterinarian should be able to assess congenital and inherited malformations such as heart defects because they may be object of legal disputes. In this study, the authors report some cases of congenital heart defects in pets (dogs and cats to clarify whether or not they may be considered a redhibitory defect. Materials and Methods: A total of 28 medical records of pets referred with suspected congenital heart disease were examined. All patients aged between 3 and 24 months underwent clinical examination, chest X-ray examination, electrocardiogram, and echocardiography and angiocardiography when necessary. Results: Congenital heart diseases or associated cardiac malformations were confirmed. Considering the above congenital diseases as redhibitory defect and the rights of the owners from a strictly legal viewpoint, 9 owners demanded an estimatory action and 11 a redhibitory action; 1 owner decided to demand the reimbursement of veterinary expenses because the animal died; 7 owners took no legal action but requested surgical intervention. Conclusions: Until more appropriate and detailed legislation on the buying and selling of pet animals is put in place; the authors propose to include in the contract a temporal extension of the guarantee relating to congenital heart disease, which can often become evident later.

  14. First-Trimester Use of Paroxetine and Congenital Heart Defects : A Population-Based Case-Control Study

    NARCIS (Netherlands)

    Bakker, Marian K.; Kerstjens-Frederikse, Wilhelmina S.; Buys, Charles H. C. M.; de Walle, Hermien E. K.; de Jong-van den Berg, Lolkje T. W.

    2010-01-01

    BACKGROUND: There is a need for case-control studies of the effect of paroxetine on the occurrence of specific heart defects. METHODS: We performed a case-control study with data from a population-based birth defects registry in the Netherlands. All the children born between 1997 and 2006 were selec

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

    Directory of Open Access Journals (Sweden)

    Togănel Rodica

    2013-04-01

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

  16. Oral everolimus treatment in a preterm infant with multifocal inoperable cardiac rhabdomyoma associated with tuberous sclerosis complex and a structural heart defect.

    Science.gov (United States)

    Mohamed, Ibrahim; Ethier, Guillaume; Goyer, Isabelle; Major, Philippe; Dahdah, Nagib

    2014-11-26

    Rhabdomyoma (RHM) is a benign cardiac tumour usually associated with tuberous sclerosis complex (TSC). Most RHMs are asymptomatic and regress spontaneously during the first years of life. Haemodynamically significant RHMs are classically treated with surgical excision. We present a case of a premature infant, born to a mother having TSC, with a prenatal diagnosis of pulmonary valve atresia and a large ventricular septal defect. Multiple cardiac RHMs were also present, including a large tumour affecting the right ventricular filling. Owing to the prematurity and low birth weight, the infant was inoperable. In this report, we describe our approach to pharmacologically reduce the RHM size using oral everolimus in preparation for a two-ventricle surgical repair of the structural cardiac defect. We also specifically describe the dose of everolimus that was used in this case to achieve therapeutic serum levels, which was seven times lower than the conventional dose applicable for older infants.

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

    Science.gov (United States)

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

    2015-01-01

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

  18. Associated congenital anomalies among cases with Down syndrome.

    Science.gov (United States)

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

    2015-12-01

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

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

    OpenAIRE

    Lelliott, Christopher J.; Gema Medina-Gomez; Natasa Petrovic; Adrienn Kis; Feldmann, Helena M; Mikael Bjursell; Nadeene Parker; Keira Curtis; Mark Campbell; Ping Hu; Dongfang Zhang; Litwin, Sheldon E.; Vlad G Zaha; Fountain, Kimberly T; Sihem Boudina

    2006-01-01

    International audience; The transcriptional coactivator peroxisome proliferator-activated receptor-gamma coactivator-1beta (PGC-1beta) has been implicated in important metabolic processes. A mouse lacking PGC-1beta (PGC1betaKO) was generated and phenotyped using physiological, molecular, and bioinformatic approaches. PGC1betaKO mice are generally viable and metabolically healthy. Using systems biology, we identified a general defect in the expression of genes involved in mitochondrial functio...

  20. The Importance of Nomenclature for Congenital Heart Disease: Implications for Research and Evaluation

    Science.gov (United States)

    Strickland, Matthew J; Riehle-Colarusso, Tiffany J; Jacobs, Jeffrey P; Reller, Mark D; Mahle, William T; Botto, Lorenzo D; Tolbert, Paige E; Jacobs, Marshall L; Lacour-Gayet, Francois G; Tchervenkov, Christo I; Mavroudis, Constantine; Correa, Adolfo

    2013-01-01

    Background Administrative databases are often used for congenital heart disease research and evaluation, with little validation of the accuracy of the diagnostic codes. Methods Metropolitan Atlanta Congenital Defects Program surveillance records were reviewed and classified using a version of the International Pediatric and Congenital Cardiac Code. Using this clinical nomenclature as the referent, we report the sensitivity and false positive fraction (1 – positive predictive value) of the International Classification of Diseases, Ninth Revision, Clinical Modification diagnosis codes for tetralogy of Fallot, transposition of the great arteries, and hypoplastic left heart syndrome. Results We identified 4918 infants and foetuses with congenital heart disease from the surveillance records. Using only the International Classification of Diseases diagnosis codes, there were 280 records with tetralogy, 317 records with transposition, and 192 records with hypoplastic left heart syndrome. Based on the International Pediatric and Congenital Cardiac Code, 330 records were classified as tetralogy, 163 records as transposition, and 179 records as hypoplastic left heart syndrome. The sensitivity of International Classification of Diseases diagnosis codes was 83% for tetralogy, 100% for transposition, and 95% for hypoplastic left heart syndrome. The false positive fraction was 2% for tetralogy, 49% for transposition, and 11% for hypoplastic left heart syndrome. Conclusions Analyses based on International Classification of Diseases diagnosis codes may have substantial misclassification of congenital heart disease. Isolating the major defect is difficult, and certain codes do not differentiate between variants that are clinically and developmentally different. PMID:19063779

  1. The etiology research of congenital heart defects%先天性心脏病的病因学研究进展

    Institute of Scientific and Technical Information of China (English)

    吕巍; 王树玉

    2013-01-01

    先天性心脏病(Congenital Heart Defects,CHD)是一类最常见的出生缺陷.其发病原因中遗传因素占有重要的位置.主要遗传因素有染色体畸变、单基因缺陷、多基因缺陷以及遗传代谢异常几类.本文按照心脏异常的不同种类分别就遗传因素的研究进展进行综述,并对研究前景进行展望.

  2. A review: trichloroethylene metabolites: potential cardiac teratogens.

    Science.gov (United States)

    Johnson, P D; Dawson, B V; Goldberg, S J

    1998-08-01

    This review is a a series of the authors' studies designed to test the hypothesis that administration of trichloroethylene (TCE), dichloroethylene (DCE), their metabolites, and related compounds are responsible for fetal cardiac teratogenesis when given to pregnant rats during organogenesis. Identification of teratogenic compounds will allow more accurate assessment of environmental contaminants and public health risks. Epidemiologic studies and previous teratogenic studies using chick embryos and fetal rats have reported an increased number of congenital cardiac defects when exposed to TCE or DCE during fetal development. Metabolites of TCE and DCE studied in the drinking-water exposure study include trichloroacetic acid TCAA), monochloroacetic acid, trichloroethanol, carboxymethylcysteine, trichloroacetaldehyde, dichloroacetaldehyde, and dichlorovinyl cysteine. Varying doses of each were given in drinking water to pregnant rats during the period of fetal heart development. Rats receiving 2730 ppm TCAA in drinking water were the only metabolite group demonstrating a significant increase in the number of cardiac defects in fetuses on a per-litter basis (p = 0.0004 Wilcoxon test and p =0.0015 exact permutation test). Maternal and fetal variables showed no statistically significant differences between treated and untreated groups. When treated with TCAA the increased cardiac defects, as compared to controls, do not preclude the involvement of other metabolites as cardiac teratogens, but indicates TCAA as a specific cardiac teratogen. Further studies of drinking-water exposure and potential mechanisms of action on the developing heart are proceeding.

  3. Baseline Prevalence of Birth Defects Associated with Congenital Zika Virus Infection - Massachusetts, North Carolina, and Atlanta, Georgia, 2013-2014.

    Science.gov (United States)

    Cragan, Janet D; Mai, Cara T; Petersen, Emily E; Liberman, Rebecca F; Forestieri, Nina E; Stevens, Alissa C; Delaney, Augustina; Dawson, April L; Ellington, Sascha R; Shapiro-Mendoza, Carrie K; Dunn, Julie E; Higgins, Cathleen A; Meyer, Robert E; Williams, Tonya; Polen, Kara N D; Newsome, Kim; Reynolds, Megan; Isenburg, Jennifer; Gilboa, Suzanne M; Meaney-Delman, Dana M; Moore, Cynthia A; Boyle, Coleen A; Honein, Margaret A

    2017-03-03

    Zika virus infection during pregnancy can cause serious brain abnormalities, but the full range of adverse outcomes is unknown (1). To better understand the impact of birth defects resulting from Zika virus infection, the CDC surveillance case definition established in 2016 for birth defects potentially related to Zika virus infection* (2) was retrospectively applied to population-based birth defects surveillance data collected during 2013-2014 in three areas before the introduction of Zika virus (the pre-Zika years) into the World Health Organization's Region of the Americas (Americas) (3). These data, from Massachusetts (2013), North Carolina (2013), and Atlanta, Georgia (2013-2014), included 747 infants and fetuses with one or more of the birth defects meeting the case definition (pre-Zika prevalence = 2.86 per 1,000 live births). Brain abnormalities or microcephaly were the most frequently recorded (1.50 per 1,000), followed by neural tube defects and other early brain malformations(†) (0.88), eye abnormalities without mention of a brain abnormality (0.31), and other consequences of central nervous system (CNS) dysfunction without mention of brain or eye abnormalities (0.17). During January 15-September 22, 2016, the U.S. Zika Pregnancy Registry (USZPR) reported 26 infants and fetuses with these same defects among 442 completed pregnancies (58.8 per 1,000) born to mothers with laboratory evidence of possible Zika virus infection during pregnancy (2). Although the ascertainment methods differed, this finding was approximately 20 times higher than the proportion of one or more of the same birth defects among pregnancies during the pre-Zika years. These data demonstrate the importance of population-based surveillance for interpreting data about birth defects potentially related to Zika virus infection.

  4. Fast track treatment following cardiac surgery in patients with complex congenital heart disease%复杂先天性心脏病矫治术后的快速康复研究

    Institute of Scientific and Technical Information of China (English)

    曾敏; 李守军; 王旭; 阎军; 晏馥霞; 李霞

    2012-01-01

    目的 探索复杂先天性心脏病快速康复(fast track,FT)的可行性和安全性,探讨其相关影响因素.方法 回顾性分析2008年1月至2010年6月阜外心血管病医院小儿外科中心复杂先天性心脏病矫治术后患者865例的临床资料.病种包括:法洛四联症,肺动脉闭锁、右心室双出口,大动脉转位,肺静脉畸形引流,心内膜垫缺损,主动脉缩窄合并室间隔缺损等.分析先天性心脏病手术风险分级评估(risk adjustment forcongenital heart surgery 1,RACHS-1),病种类型、年龄、体质量等因素对FT的影响.结果 总体FT比率为42.65%.按年龄分组(0~6个月、6~12个月以及>12个月)3组FT比率分别为19.70%、40.20%、62.61%,3组间比较差异有统计学意义(P<0.05).FT组机械通气时间、重症监护病房住院时间比非FT组明显降低,差异有统计学意义[(6.51±4.06)h vs.(58.07±74.81)h,P<0.05;(2.05±1.06)d vs.(7.64±8.75)d,P<0.05].Logistic回归分析提示年龄、体质量、高RACHS-1分级是复杂先天性心脏病FT治疗影响因素.结论 部分复杂先天性心脏病矫治术后可行FT治疗,高RACHS-1风险分级、疾病类型、年龄<6个月是复杂先天性心脏病矫治术后FT的影响因素.%Objectives To access the feasibility and safety of fast track (FT) treatment in patients with complex congenital heart disease who received congenital cardiac surgery, and to discuss risk factors of FT treatment. Methods We retrospectively summarized the clinic data of 865 patients with complex congenital heart disease who underwent operations in Fuwai Hospital from January 2008 to June 2010. Patients with tetralogy of Fallot, pulmonary atresia, double outlet right ventricle transposition of the great arteries, total anomalous pulmonary venous connection, endocardial cushion defects and aortic coarctation combine with ventricular septal defect were all included in this study. The risk factors [risk adjustment for congenital

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

    DEFF Research Database (Denmark)

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

    2012-01-01

    Chromosome 8p23.1 is a common hotspot associated with major congenital malformations, including congenital diaphragmatic hernia (CDH) and cardiac defects. We present findings from high‐resolution arrays in patients who carry a loss (n = 18) or a gain (n = 1) of sub‐band 8p23.1. We confirm a region...... involved in both diaphragmatic and heart malformations. Results from a novel CNVConnect algorithm, prioritizing protein–protein interactions between products of genes in the 8p23.1 hotspot and products of previously known CDH causing genes, implicated GATA4, NEIL2, and SOX7 in diaphragmatic defects...

  6. Challenges Faced by Parents of Children with Congenital Heart Disease

    Science.gov (United States)

    ... Challenges Faced by Parents of Children with Congenital Heart Disease Page Content ​​​The first thing most parents want ... common and expected. About Congenital Heart Defects Congenital Heart Disease (CHD) is the most common type of birth ...

  7. Cardiac anomalies in Cantrell's pentalogy: From ventricular diverticulum to complete thoracic ectopia cordis.

    Science.gov (United States)

    Kaouthar, Hakim; Jihen, Ayari; Faten, Jebri; Hela, Msaad; Fatma, Ouarda; Lilia, Chaker; Rafik, Boussaada

    2013-01-01

    Cantrell's pentalogy is a very rare syndrome associating varying degrees of midline wall defects and congenital cardiac anomalies. It is characterized by a combination of five anomalies that are: a midline supra umbilical abdominal wall defect, a sternal defect, an anterior diaphragmatic defect, a diaphragmatic pericardial defect and a congenital intra cardiac defect. Ectopia cordis, defined as a developmental defect in which the heart is abnormally located partially or totally outside the thorax, is in some cases a part of this syndrome. We report two cases of Cantrell's pentalogy in which cardiac ectopia was complete in one case and limited to left ventricular diverticulum in the other case. Both cases had a common intracardiac defect which is a double outlet right ventricle. The first case underwent surgical repair of the intracardiac lesions with resection of the diverticulum associated to repair of the midline defects with good outcome. The second case that presented with complete extra thoracic ectopia cordis died because of sepsis. We review through this article the main characteristics of Cantrell's pentalogy, we highlight the diversity of anatomic lesions and study the prognosis of this syndrome.

  8. Cardiac anomalies in Cantrell’s pentalogy: From ventricular diverticulum to complete thoracic ectopia cordis

    Science.gov (United States)

    Kaouthar, Hakim; Jihen, Ayari; Faten, Jebri; Hela, Msaad; Fatma, Ouarda; Lilia, Chaker; Rafik, Boussaada

    2014-01-01

    Summary Cantrell’s pentalogy is a very rare syndrome associating varying degrees of midline wall defects and congenital cardiac anomalies. It is characterized by a combination of five anomalies that are: a midline supra umbilical abdominal wall defect, a sternal defect, an anterior diaphragmatic defect, a diaphragmatic pericardial defect and a congenital intra cardiac defect. Ectopia cordis, defined as a developmental defect in which the heart is abnormally located partially or totally outside the thorax, is in some cases a part of this syndrome. We report two cases of Cantrell’s pentalogy in which cardiac ectopia was complete in one case and limited to left ventricular diverticulum in the other case. Both cases had a common intracardiac defect which is a double outlet right ventricle. The first case underwent surgical repair of the intracardiac lesions with resection of the diverticulum associated to repair of the midline defects with good outcome. The second case that presented with complete extra thoracic ectopia cordis died because of sepsis. We review through this article the main characteristics of Cantrell’s pentalogy, we highlight the diversity of anatomic lesions and study the prognosis of this syndrome. PMID:25541632

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

    Directory of Open Access Journals (Sweden)

    Christopher J Lelliott

    2006-11-01

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

  10. Relationship between fetal congenital heart defects and chromosomal anomalies detected by prenatal ultrasound%产前超声诊断胎儿先天性心脏畸形与染色体异常的关系

    Institute of Scientific and Technical Information of China (English)

    黎新艳; 田晓先; 晁桂华; 韦波

    2012-01-01

    目的 应用超声探讨胎儿先天性心脏畸形与染色体异常的关系.方法 回顾分析我院产前超声检查发现先天性心脏畸形,并行染色体检查的胎儿58例.结果 58例先天性心脏畸形胎儿中复杂畸形39例(67.2%),心内畸形合并心外畸形26例(44.8% );染色体异常16例(27.6%),其中18 -三体综合征9例,21 -三体综合征4例,13 -三体综合征2例,47,XX,+8[16]\\46,XX[44] 1例.结论 不同类型的胎儿先天性心脏畸形与染色体异常的关系不同;当产前超声发现胎儿先天性心脏畸形时,应仔细观察胎儿全身有无畸形及超声软标志,必要时行染色体检查以明确核型.%Objective To explore the relationship between fetal congenital heart defects (CHD)and chromosomal anomalies by ultrasound. Methods Fifty-eight fetuses with CHD and underwent chromosome examination were enrolled in this study, their data were analyzed retrospectively. Results In 58 cases, there were 39 fetuses (67.2% ) of cardiac complicated deformity and 26 fetuses (44.8%) of extra cardiac malformations, 16 fetuses (27.6%) had chromosomal abnormalities including 9 cases of trisomy 18, 4 cases of trisomy 21, 2 cases of trisomy 13, and 1 case of 47, XX,+8 [ 16 ]\\46, XX [ 44 ]. Conclusion Different fetal CHD has different correlation with chromosomal abnormalities. When prenatal ultrasound diagnosis of heart malformations is made, we should check the fetus carefully and perform amniocentesis or umbilical cord blood puncture to confirm the chromosome karyotype when it is necessary.

  11. Congenital hypoaldosteronism.

    Science.gov (United States)

    Sethupathi, Vanathi; Vijayakumar, M; Janakiraman, Lalitha; Nammalwar, B R

    2008-08-01

    Congenital hypoaldosteronism due to an isolated aldosterone biosynthesis defect is rare. We report a 4 month old female infant who presented with failure to thrive, persistent hyponatremia and hyperkalemia. Investigations revealed normal serum 17 hydroxy progesterone and cortisol. A decreased serum aldosterone and serum 18 hydroxy corticosterone levels with a low 18 hydroxy corticosterone: aldosterone ratio was suggestive of corticosterone methyl oxidase type I deficiency. She was started on fludrocortisone replacement therapy with a subsequent normalization of electrolytes. Further molecular analysis is needed to ascertain the precise nature of the mutation.

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

    Directory of Open Access Journals (Sweden)

    Danielle R. Lucon

    2006-01-01

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

  13. A rare case of cardiac anomaly: prenatally diagnosed ectopia cordis.

    Science.gov (United States)

    Çelik, Yalçın; Hallıoğlu, Olgu; Basut, Nursel; Demetgül, Hasan; Esin Kibar, A

    2015-06-01

    Ectopia cordis is a rare congenital malformation in which the heart is located partially or totally outside the thoracic cavity. The estimated prevalence of ectopia cordis is 5.5-7.9 per million births and it comprises 0.1% of congenital heart diseases. Ectopia cordis is associated with other congenital heart diseases and various tissue and organ disorders. Common cardiac anomalies associated with ectopia cordis include ventricular septal defect, atrial septal defect, pulmonary stenosis, right ventricular diverticulum, double right ventricular outflow tract and tetralogy of Fallot. Extracardiac anomalies associated with ectopia cordis reported in the literature include omphalocele, gastrochisis, cleft lip and palate, scollosis and central nervous system malformations. Here we report a newborn with ectopia cordis who was diagnosed prenatally.

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

    Science.gov (United States)

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

    2016-01-01

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

  15. Visual Field Defect after Cardiac Surgery: The Striking Role of Interdisciplinary Collaboration

    Directory of Open Access Journals (Sweden)

    Raffaele Nuzzi

    2015-01-01

    Full Text Available Perioperative visual loss (POVL is a potentially devastating complication that can occur following ocular or nonocular surgery. The leading causes of this disease are retinal vascular occlusions, ischemic optic neuropathies, and cortical blindness. POVL pathogenesis is strictly influenced by surgery, anesthesia, and patients’ comorbidities. We report of a 55-year-old caucasian man who presented with complaints of sudden painless loss of vision and unilateral campimetric deficit. We recorded a preserved visual acuity but at fundus examination a bilateral ischemic optic neuropathy (ION was suspected. Our hypothesis was supported by uncommon and peculiar visual field defects and a history of cardiovascular surgery shortly before was a striking data. When we examined his medical records we found strong accordance with what is reported in literature to be risk factors for postoperative ION development. He presented intraoperative hypotension, anemia, and hypothermia, he was older than 50 years, and surgery lasted for more than five hours. We are currently monitoring his visual acuity and visual fields which remain unchanged. As there is no proved therapy for such severe adverse events, we recommend intraoperative check of blood pressure, blood loss, and body temperature, associated with repeated eye checks and patients’ interview.

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

    Directory of Open Access Journals (Sweden)

    Pasqua Alessia

    2011-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-10-15

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

  18. Pediatric and congenital heart transplant: twenty-year experience in a tertiary Brazilian Hospital

    OpenAIRE

    Leonardo Augusto Miana; Estela Azeka; Luiz Fernando Canêo; Aída Luisa Turquetto; Carla Tanamati; Juliano Gomes Penha; Alexandre Cauduro; Marcelo Biscegli Jatene

    2014-01-01

    Introduction: Cardiac transplantation remains the gold standard for end-stage cardiomyopathies and congenital heart defects in pediatric patients. Objective: This study aims to report on 20 years of experience since the first case and evaluate our results. Methods: We conducted a retrospective analysis of the database and outpatient follow-up. Between October 1992 and April 2012, 109 patients underwent 114 transplants. 51.8% of them being female. The age of patients ranged from 12 days to...

  19. Heart fields and cardiac morphogenesis.

    Science.gov (United States)

    Kelly, Robert G; Buckingham, Margaret E; Moorman, Antoon F

    2014-10-01

    In this review, we focus on two important steps in the formation of the embryonic heart: (i) the progressive addition of late differentiating progenitor cells from the second heart field that drives heart tube extension during looping morphogenesis, and (ii) the emergence of patterned proliferation within the embryonic myocardium that generates distinct cardiac chambers. During the transition between these steps, the major site of proliferation switches from progenitor cells outside the early heart to proliferation within the embryonic myocardium. The second heart field and ballooning morphogenesis concepts have major repercussions on our understanding of human heart development and disease. In particular, they provide a framework to dissect the origin of congenital heart defects and the regulation of myocardial proliferation and differentiation of relevance for cardiac repair.

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

    Science.gov (United States)

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

    2016-03-01

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

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

    Science.gov (United States)

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

    2016-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Firoz Abdul Samad

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

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

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    Rafael Fabiano Machado Rosa

    2011-02-01

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

  4. Maternal Folic Acid Supplementation and the Risk of Congenital Heart Defects in Offspring: A Meta-Analysis of Epidemiological Observational Studies

    Science.gov (United States)

    Feng, Yu; Wang, Song; Chen, Runsen; Tong, Xing; Wu, Zeyu; Mo, Xuming

    2015-02-01

    Epidemiological studies have reported conflicting results regarding the association between maternal folic acid supplementation and the risk of congenital heart defects (CHDs). However, a meta-analysis of the association between maternal folic acid supplementation and CHDs in offspring has not been conducted. We searched the MEDLINE and EMBASE databases for articles cataloged between their inceptions and October 10, 2014 and identified relevant published studies that assessed the association between maternal folate supplementation and the risk of CHDs. Study-specific relative risk estimates were pooled using random-effects or fixed-effects models. Out of the 1,606 articles found in our initial literature searches, a total of 1 randomized controlled trial, 1 cohort study, and 16 case-control studies were included in our final meta-analysis. The overall results of this meta-analysis provide evidence that maternal folate supplementation is associated with a significantly decreased risk of CHDs (RR = 0.72, 95% CI: 0.63-0.82). Statistically significant heterogeneity was detected (Q = 82.48, P < 0.001, I2 = 79.4%). We conducted stratified and meta-regression analyses to identify the origin of the heterogeneity among the studies, and a Galbraith plot was generated to graphically assess the sources of heterogeneity. This meta-analysis provides a robust estimate of the positive association between maternal folate supplementation and a decreased risk of CHDs.

  5. Effect of calf death loss on cloned cattle herd derived from somatic cell nuclear transfer: clones with congenital defects would be removed by the death loss.

    Science.gov (United States)

    Watanabe, Shinya

    2013-09-01

    To increase public understanding on cloned cattle derived from somatic cell nuclear transfer (SCNT), the present review describes the effect of calf death loss on an SCNT cattle herd. The incidence of death loss in SCNT cattle surviving more than 200 days reached the same level as that in conventionally bred cattle. This process could be considered as removal of SCNT cattle with congenital defects caused by calf death loss. As a result of comparative studies of SCNT cattle and conventionally bred cattle, the substantial equivalences in animal health status, milk and meat productive performance have been confirmed. Both sexes of SCNT cattle surviving to adulthood were fertile and their reproductive performance, including efficiency of progeny production, was the same as that in conventionally bred cattle. The presence of substantial equivalence between their progeny and conventionally bred cattle also existed. Despite these scientific findings, the commercial use of food products derived from SCNT cattle and their progeny has not been allowed by governments for reasons including the lack of public acceptance of these products and the low efficiency of animal SCNT. To overcome this situation, communication of the low risk of SCNT technology and research to improve SCNT efficiency are required.

  6. Radionuclide angiocardiography in the diagnosis of congenital heart disorders

    Energy Technology Data Exchange (ETDEWEB)

    Jones, R.H.; Austin, E.H.; Peter, C.A.; Sabiston, D.C. Jr.

    1981-06-01

    Radionuclide angiocardiography provides a noninvasive assessment of cardiac function and blood flow through the heart and lungs. During the past three years, this procedure has been used at the Duke University Medical Center for evaluation of 343 patients with congenital heart disorders. A review of this experience shows tat the resulting data were frequently useful in the surgical management of these patients. In patients with abnormal blood flow patterns, noninvasive imaging of blood flow was useful before and after operative correction. Radionuclide measurements of left-to-right intracardiac shunts were sufficiently accurate for use in the initial evaluation of patients with murmurs and to document the absence of shunt after operative closure of intracardiac septal defects. Moreover, measurements of right-to-left cardiac shunts were of benefit in the management of children with cyanotic heart disease. Measurements of left ventricular function obtained during rest and exercise were most useful in patients with origin of the left coronary artery from the pulmonary artery and in patients with congenital valvular insufficiency. This experience demonstrates that radionuclide angiocardiography provides important measurements of central hemodynamics and cardiac function which are useful in the management of patients with congenital heart disorders.

  7. Ebstein's Anomaly, Left Ventricular Noncompaction, and Sudden Cardiac Death

    Science.gov (United States)

    McGee, Michael; Warner, Luke; Collins, Nicholas

    2015-01-01

    Ebstein's anomaly is a congenital disorder characterized by apical displacement of the septal leaflet of the tricuspid valve. Ebstein's anomaly may be seen in association with other cardiac conditions, including patent foramen ovale, atrial septal defect, and left ventricular noncompaction (LVNC). LVNC is characterized by increased trabeculation within the left ventricular apex. Echocardiography is often used to diagnose LVNC; however, magnetic resonance (MR) imaging offers superior characterization of the myocardium. We report a case of sudden cardiac death in a patient with Ebstein's anomaly with unrecognized LVNC noted on post mortem examination with screening documenting the presence of LVNC in one of the patient's twin sons. PMID:26240764

  8. Unique cardiac and cerebral anomalies with chondrodysplasia punctata.

    Science.gov (United States)

    Ciske, D J; Waggoner, D J; Dowton, S B

    1998-01-06

    Chondrodysplasia punctata (CDP) is associated with a variety of genetic and nongenetic conditions. We report a girl with CDP, complex congenital cardiac disease, central nervous system (CNS) anomalies, and clinical findings that resemble those of the sibs described by Toriello et al. [1993, Am J Med Genet 47:797-799]. The cardiac defects and CNS abnormalities reported are unique in the context of CDP and may serve to expand the phenotypic spectrum of the unique form of CDP described by Toriello et al. [1993].

  9. Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4 due to PTRF-CAVIN mutations.

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    Anna Rajab

    2010-03-01

    Full Text Available We investigated eight families with a novel subtype of congenital generalized lipodystrophy (CGL4 of whom five members had died from sudden cardiac death during their teenage years. ECG studies revealed features of long-QT syndrome, bradycardia, as well as supraventricular and ventricular tachycardias. Further symptoms comprised myopathy with muscle rippling, skeletal as well as smooth-muscle hypertrophy, leading to impaired gastrointestinal motility and hypertrophic pyloric stenosis in some children. Additionally, we found impaired bone formation with osteopenia, osteoporosis, and atlanto-axial instability. Homozygosity mapping located the gene within 2 Mbp on chromosome 17. Prioritization of 74 candidate genes with GeneDistiller for high expression in muscle and adipocytes suggested PTRF-CAVIN (Polymerase I and transcript release factor/Cavin as the most probable candidate leading to the detection of homozygous mutations (c.160delG, c.362dupT. PTRF-CAVIN is essential for caveolae biogenesis. These cholesterol-rich plasmalemmal vesicles are involved in signal-transduction and vesicular trafficking and reside primarily on adipocytes, myocytes, and osteoblasts. Absence of PTRF-CAVIN did not influence abundance of its binding partner caveolin-1 and caveolin-3. In patient fibroblasts, however, caveolin-1 failed to localize toward the cell surface and electron microscopy revealed reduction of caveolae to less than 3%. Transfection of full-length PTRF-CAVIN reestablished the presence of caveolae. The loss of caveolae was confirmed by Atomic Force Microscopy (AFM in combination with fluorescent imaging. PTRF-CAVIN deficiency thus presents the phenotypic spectrum caused by a quintessential lack of functional caveolae.

  10. The third aldo castaneda lecture: the neglect of neonatal/infant cardiac disease in Africa--continental genocide?

    Science.gov (United States)

    Kinsley, Robin H

    2012-04-01

    The advances made in pediatric cardiology and cardiac surgery now make it possible for survival into adulthood of the majority of children born with congenitally malformed hearts. On the African continent, unfortunately, this is only a dream as roughly 280,000 neonates born every year on the continent are left untreated, demonstrating the natural history of the congenitally malformed heart by default. Pediatric cardiac surgery is available in very few countries on this continent. This article takes a look at the problem of neonates and infants born with cardiac defects on the continent and attempts an extrapolation of the magnitude of the problem. Using the experience gained at the Walter Sisulu Pediatric Cardiac Center since its inception in 2003, issues of financing indigent patients, training local personnel, and building capacity through infrastructure development and regional cooperation are discussed. The success of the Walter Sisulu model demonstrates the benefits of treatment for the neonates and infants with congenitally malformed heart, on the continent. It is emphasized that African governments and all stakeholders must participate to ensure a good outcome for the African child with congenital cardiac defect.

  11. Congenital right hemidiaphragmatic agenesis

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    Bilal Mirza

    2012-01-01

    Full Text Available Congenital diaphragmatic hernia is a congenital defect of the diaphragm through which intestine and other viscera herniate into the chest. In extreme form of diaphragmatic maldevelopment, there might be a complete agenesis of diaphragm. A 45-day old male infant was presented with fever, cough and respiratory distress for a week. Chest radiograph showed right-sided congenital diaphragmatic hernia. The patient underwent surgical exploration and found to have an unusual and large defect of right hemidiaphragm. The diaphragm was absent on anterior and lateral aspects of the chest wall and only a small rim of diaphragm was present on posterior aspect. The defect was identified as agenesis of right hemidiaphragm and successfully managed by suturing the posterior rim of diaphragm to the intercostal muscles and ribs. This report describes successful management of hemidiaphragmatic agenesis without incorporating a prosthetic material.

  12. Congenital Hypothyroidism

    Science.gov (United States)

    ... Body in Balance › Congenital Hypothyroidism Fact Sheet Congenital Hypothyroidism March, 2012 Download PDFs English Espanol Editors Rosalind S. ... MD Susan R. Rose, MD What is congenital hypothyroidism? Newborn babies who are unable to make enough ...

  13. Exercise Performance in Children and Young Adults After Complete and Incomplete Repair of Congenital Heart Disease.

    Science.gov (United States)

    Rosenblum, Omer; Katz, Uriel; Reuveny, Ronen; Williams, Craig A; Dubnov-Raz, Gal

    2015-12-01

    Few previous studies have addressed exercise capacity in patients with corrected congenital heart disease (CHD) and significant anatomical residua. The aim of this study was to determine the aerobic fitness and peak cardiac function of patients with corrected CHD with complete or incomplete repairs, as determined by resting echocardiography. Children, adolescents and young adults (heart defect had decreased aerobic fitness, with evidence of impaired peak cardiac function and lower pulmonary perfusion. Patients that had undergone a complete repair had decreased aerobic fitness attributed only to deconditioning. These newly identified differences explain why in previous studies, the lowest fitness was seen in patients with the most hemodynamically significant heart malformations.

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

    Institute of Scientific and Technical Information of China (English)

    李佳; 黄文英; 孙格格

    2015-01-01

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

  15. Introduction: December 2015 HeartWeek Issue of Cardiology in the Young - Highlights of HeartWeek 2015: Challenges and Dilemmas of Pediatric Cardiac Care including Heart Failure in Children and Congenital Abnormalities of the Coronary Arteries.

    Science.gov (United States)

    Jacobs, Jeffrey P

    2015-12-01

    This December Issue of Cardiology in the Young represents the 13th annual publication in Cardiology in the Young generated from the two meetings that composed "HeartWeek in Florida". "HeartWeek in Florida", the joint collaborative project sponsored by the Cardiac Centre at the Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, together with Johns Hopkins All Children's Heart Institute of Saint Petersburg, Florida, averages over 1000 attendees every year and is now recognised as one of the major planks of continuing medical and nursing education for those working in the fields of diagnosis and treatment of cardiac disease in the foetus, neonate, infant, child, and adult. "HeartWeek in Florida" combines the International Symposium on Congenital Heart Disease, organised by All Children's Hospital and Johns Hopkins Medicine, and entering its 16th year, with the Annual Postgraduate Course in Paediatric Cardiovascular Disease, organised by The Children's Hospital of Philadelphia entering its 19th year. This December 2015 Issue of Cardiology in the Young features highlights of the two meetings that compose HeartWeek. Johns Hopkins All Children's Heart Institute's 15th Annual International Symposium on Congenital Heart Disease was held at the Renaissance Vinoy Resort & Golf Club, Saint Petersburg, Florida, from Friday, 6 February, 2015, to Monday, 9 February, 2015. This Symposium was co-sponsored by The American Association for Thoracic Surgery and its special focus was "Congenital Abnormalities of the Coronary Arteries". The Children's Hospital of Philadelphia's annual meeting - Cardiology 2015, the 18th Annual Update on Paediatric and Congenital Cardiovascular Disease: "Challenges and Dilemmas" - was held at the Hyatt Regency Scottsdale Resort and Spa at Gainey Ranch, Scottsdale, Arizona, from Wednesday, 11 February, 2015, to Sunday, 15 February, 2015. We would like to acknowledge the tremendous contributions made to paediatric and congenital cardiac care

  16. Clinical significance of cardiac axis determination in the diagnosis of fetal congenital heart disease%超声心脏轴测定在筛查胎儿先天性心脏病中的临床意义

    Institute of Scientific and Technical Information of China (English)

    王焕侠

    2014-01-01

    Objective To investigate the clinical significance of cardiac axis determined by echocardiography in the diagnosis of fetal congenital heart disease (CHD).Methods 528 high risk fetuses for CHD were examined by echocardiography.Cardiac axis was measured on four chamber view and fetal cardic anatomical structure was examined in multiple views to determine CHD.Re-sults 29 cases of fetal congenital heart disease and 499 cases of normal fetus were detected by four chamber view in 528 cases of congenital heart disease risk in the fetus pure.However,43 cases of fetal congenital heart disease and 485 cases of normal fetus were detected by combination of four Chamber view and cardiac axis determination in 528 cases of congenital heart disease risk in the fetus pure(P <0.01).Finally,46 cases of fetal congenital heart diseas were diagnosed through perinatal autopsy,newborn ultrasound examination or the results after diagnosis.Sensitivity of CHD diag-nosed by four chamber view alone was 63.04%.However,it was elevated to 93.48% by combina-tion of four Chamber view and cardiac axis determination (P <0.05).Conclusion Cardiac axis plays a key role in fetal echocardiographic screening for CHD.%目的:探讨超声心动图测定在胎儿先天性心脏病产前超声诊断中的临床效果。方法采用 LOGIQ 7超声诊断仪检查528例先心病高危胎儿,在心脏超声四腔观基础上测定胎儿心脏轴,并从多切面观察胎儿心内结构,以确定胎儿有无先心病。结果在528例先心病高危胎儿中,单纯四腔观检测有先天性心脏病胎儿29例,正常胎儿499例;而心脏超声四腔观加心脏轴测定共检测有先天性心脏病胎儿43例,正常胎儿485例,差异有统计学意义(P <0.01)。经过引产儿尸体解剖、新生儿超声检查以及随访手术结果确诊后,确诊胎儿先天性心脏病者46例,单纯四腔观检测胎儿先心病的敏感性为63.04%(29/46),应用心

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

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    Brockmann Knut

    2009-03-01

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

  18. The genetics of folate metabolism and maternal risk of birth of a child with Down syndrome and associated congenital heart defects

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    Fabio eCoppedè

    2015-06-01

    Full Text Available Almost 15 years ago it was hypothesized that polymorphisms of genes encoding enzymes involved in folate metabolism could lead to aberrant methylation of peri-centromeric regions of chromosome 21, favoring its abnormal segregation during maternal meiosis. Subsequently, more than 50 small case-control studies investigated whether or not maternal polymorphisms of folate pathway genes could be risk factors for the birth of a child with Down syndrome (DS, yielding conflicting and inconclusive results. However, recent meta-analyses of those studies suggest that at least three of those polymorphisms, namely MTHFR 677C>T, MTRR 66A>G, and RFC1 80G>A, are likely to act as maternal risk factors for the birth of a child with trisomy 21, revealing also complex gene-nutrient interactions. A large-cohort study also revealed that lack of maternal folic acid supplementation at peri-conception resulted in increased risk for a DS birth due to errors occurred at maternal meiosis II in the aging oocyte, and it was shown that the methylation status of chromosome 21 peri-centromeric regions could favor recombination errors during meiosis leading to its malsegregation. In this regard, two recent case-control studies revealed association of maternal polymorphisms or haplotypes of the DNMT3B gene, coding for an enzyme required for the regulation of DNA methylation at centromeric and peri-centromeric regions of human chromosomes, with risk of having a birth with DS. Furthermore, congenital heart defects (CHD are found in almost a half of DS births, and increasing evidence points to a possible contribution of lack of folic acid supplementation at peri-conception, maternal polymorphisms of folate pathway genes, and resulting epigenetic modifications of several genes, at the basis of their occurrence. This review summarizes available case-control studies and literature meta-analyses in order to provide a critical and up to date overview of what we currently know in this

  19. Application of prenatal ultrasonography in screening of fetuses with congenital heart defects during the second and third trimester of pregnancy%产前超声检查在中晚期先天性心脏畸形胎儿筛查中的应用

    Institute of Scientific and Technical Information of China (English)

    蒋田; 周如海; 袁瑞; 吴猛

    2011-01-01

    Objective: To explore the application value of color Doppler ultrasonography in screening of fetal congenital heart defects. Methods; 51 fetuses who were confirmed with congenital heart defects after induced abortion or delivery were analyzed retrospectively. All the pregnant women received routine ultrasonography before delivery once or twice, then they were followed up until one week before normal delivery or induced abortion; Philips IU22 color Doppler ultrasonic diagnostic apparatus was used to observe the cardiac conditions from 4CV, AR-SAV, VOTV, 3VV and 3VVT views. Results; Among 51 fetuses, 13 fetuses were found with atrial septal defect, 10 fetuses were found with ventricular septal defect, 7 fetuses were found with tetralogy of Fallot, 5 fetuses were found with endocardia] cushion defect, 4 fetuses were found with single atrium or single ventricle, 4 fetuses were found with right ventricular dysplasia, 3 fetuses were found with left ventricular dysplasia, 2 fetuses were found with transposition of great arteries, 2 fetuses were found with Ebstein, 1 fetus were found with cardiac tumor. 46 fetuses were screened out by ultrasonography, the diagnostic coincidence rate was 90. 19%. The diagnostic coincidence rates of 4CV + VOTV, 4CV + 3VV and 4CV + 3VVT views for fetal congenital heart defects were significantly higher than that of simple 4CV view (P<0. 05) . The diagnostic coincidence rates of 4CV +3VV and 4CV +3VVT views for fetal congenital heart defects were significantly higher than those of the other three views (P <0. 05) . Conclusion; The detection rate of prenatal ultrasonography is high for congenital heart defects, the clinical application value of ultrasonography is very high, reasonable views can improve the detection rate.%目的:探讨彩色多普勒超声检查在胎儿先天性心脏畸形中的应用价值.方法:回顾性分析经引产或产后证实先天性心脏畸形的胎儿51例.所有孕妇产前经1~2次常规超声检查,

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

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    Clarke Kieran

    2004-12-01

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

  1. Epigenetic mechanisms in cardiac development and disease

    Institute of Scientific and Technical Information of China (English)

    Marcus Vallaster; Caroline Dacwag Vallaster; Sean M. Wu

    2012-01-01

    During mammalian development,cardiac specification and ultimately lineage commitment to a specific cardiac cell type is accomplished by the action of specific transcription factors (TFs) and their meticulous control on an epigenetic level.In this review,we detail how cardiacspecific TFs function in concert with nucleosome remodeling and histone-modifying enzymes to regulate a diverse network of genes required for processes such as cell growth and proliferation,or epithelial to mesenchymal transition (EMT),for instance.We provide examples of how several cardiac TFs,such as Nkx2.5,WHSC1,Tbx5,and Tbx1,which are associated with developmental and congenital heart defects,are required for the recruitment of histone modifiers,such as Jarid2,p300,and Ash21,and components of ATP-dependent remodeling enzymes like Brg1,Baf60c,and Baf180.Binding of these TFs to their respective sites at cardiac genes coincides with a distinct pattern of histone marks,indicating that the precise regulation of cardiac gene networks is orchestrated by interactions between TFs and epigenetic modifiers.Furthermore,we speculate that an epigenetic signature,comprised of TF occupancy,histone modifications,and overall chromatin organization,is an underlying mechanism that governs cardiac morphogenesis and disease.

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

    DEFF Research Database (Denmark)

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

    2013-01-01

    the modified 17-segment American Heart Association model. For the qualitative analysis, each segment was graded according to the following scoring system: 0 = no defect, 1 = hypoperfusion transmural extent 1/2, and 4 = infarct stigmata. In the semiquantitative analysis the perfusion was either scored 0 (normal...... and CMR images. The qualitative and semiquantitative MDCT against CMR analysis of rest and stress images showed high concordance to detect perfusion defects per vascular territory and on a per myocardial segment basis. 320-MDCT and CMR perfusion imaging can be used clinically to identify myocardial...

  3. 甘肃省2009-2010统计年5县(市)先天缺陷现状分析%Present situation of congenital defects in five counties (cities) of Gansu province in 2009-2010

    Institute of Scientific and Technical Information of China (English)

    杜蔚云; 裴凌云; 马瑞兰; 吴双; 姜德民; 马晴; 李芝兰

    2013-01-01

    目的 了解甘肃省5县(市)先天缺陷现状,为出生缺陷有效干预提供科学依据.方法 对甘肃省泾川县、徽县、渭源县、永靖县及敦煌市2009--2010统计年所有孕28周以上出生的新生儿(包括活产、死胎、死产)进行分析.结果 2009年甘肃省5县(市)先天缺陷发生率为7.49‰,居于前3位的先天缺陷病种分别为先天性心脏病、色素痣和四肢畸形;先天缺陷死亡率最高的是先天性心脏病(0.79‰).2010年先天缺陷发生率为8.35‰,居于前3位的先天缺陷病种分别为先天性心脏病、神经管畸形和色素痣、脑积水;先天缺陷死亡率最高的是先天性心脏病(1.10‰).5县(市)先天缺陷发生率不同,其中敦煌市先天缺陷发生率最高,为14.65‰,徽县最低,为3.28‰.结论 甘肃省5县(市)先天缺陷发生率不同,先天缺陷顺位发生改变,先天性心脏病取代神经管畸形成为发生顺位的第一位,应根据不同地区先天缺陷现状,优先解决该地区重点、突出的问题,通过三级预防措施降低先天缺陷的发生.%Objective To understand the situation of congenital defects' in five counties/cities in Gansu province so as to provide scientific evidence for the development of effective interventions.Methods General imformaton was collected on all the neonates who were born in Dunhuang city,Jingchuan county,Hui county,Weiyuan county and Yongjing county in Gansu province between Oct.1st,2009 to Sep.304th,2010,with all of their gestational age above 28 weeks.Neonates would include live birth,dead fetus and still birth.Results The overall incidence of congenital defects was 7.49‰ in the five counties/cities in Gansu province in 2009.Ranking order in the top three showed as congenital heart disease,pigmented nevus and limb deformity.Disease with the highest mortality was congenital heart disease (0.79‰).The incidence of congenital defects was 8.35‰ in 2010 with the ranking order of the top three

  4. Feasibility of a Team Approach to Complex Congenital Heart Defect Neurodevelopmental Follow-Up: Early Experience of a Combined Cardiology/Neonatal Intensive Care Unit Follow-Up Program.

    Science.gov (United States)

    Chorna, Olena; Baldwin, H Scott; Neumaier, Jamie; Gogliotti, Shirley; Powers, Deborah; Mouvery, Amanda; Bichell, David; Maitre, Nathalie L

    2016-07-01

    Infants with complex congenital heart disease are at high risk for poor neurodevelopmental outcomes. However, implementation of dedicated congenital heart disease follow-up programs presents important infrastructure, personnel, and resource challenges. We present the development, implementation, and retrospective review of 1- and 2-year outcomes of a Complex Congenital Heart Defect Neurodevelopmental Follow-Up program. This program was a synergistic approach between the Pediatric Cardiology, Cardiothoracic Surgery, Pediatric Intensive Care, and Neonatal Intensive Care Unit Follow-Up teams to provide a feasible and responsible utilization of existing infrastructure and personnel, to develop and implement a program dedicated to children with congenital heart disease. Trained developmental testers administered the Ages and Stages Questionnaire-3 over the phone to the parents of all referred children at least once between 6 and 12 months' corrected age. At 18 months' corrected age, all children were scheduled in the Neonatal Intensive-Care Unit Follow-Up Clinic for a visit with standardized neurological exams, Bayley III, multidisciplinary therapy evaluations and continued follow-up. Of the 132 patients identified in the Cardiothoracic Surgery database and at discharge from the hospital, a total number of 106 infants were reviewed. A genetic syndrome was identified in 23.4% of the population. Neuroimaging abnormalities were identified in 21.7% of the cohort with 12.8% having visibly severe insults. As a result, 23 (26.7%) received first-time referrals for early intervention services, 16 (13.8%) received referrals for new services in addition to their existing ones. We concluded that utilization of existing resources in collaboration with established programs can ensure targeted neurodevelopmental follow-up for all children with complex congenital heart disease.

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

    Institute of Scientific and Technical Information of China (English)

    肖书娜

    2013-01-01

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

  6. Correção simultânea de defeito congênito intracardíaco e pectus excavatum Simultaneous repair of congenital heart defect and pectus excavatum

    Directory of Open Access Journals (Sweden)

    João Roberto Breda

    2007-09-01

    Full Text Available Relatamos tratamento simultâneo de pectus excavatum e defeito congênito intracardíaco representado por comunicação interatrial ostium secundum. Paciente do sexo masculino, 8 anos de idade, com diagnóstico clínico e ecocardiográfico de comunicação interatrial, associada à deformidade da parede torácica tipo pectus excavatum. Foi encaminhado para operação com correção simultânea do defeito congênito intracardíaco associado ao reparo do pectus. O tratamento operatório simultâneo do pectus excavatum e defeitos congênitos intracardíacos torna difícil o acesso ao coração. Foi feita a correção simultânea dessas alterações, com satisfatório resultado, sobretudo estético, para o paciente.The author describes the simultaneous treatment of pectus excavatum and congenital intracardiac defect (atrial septal defect represented by the interatrial foramen secundum. An 8-year-old boy, with clinical and echocardiography diagnosis of atrial septal defect associated with pectus excavatum was referred to a simultaneous surgical treatment of both abnormalities. The simultaneous surgical treatment of both pectus excavatum and congenital intracardiac defects make it difficult to access the heart. In this case, the simultaneous surgical treatment of atrial septal defect and pectus excavatum was a valuable alternative to surgical repair of both abnormalities, mainly due to its cosmetic outcome.

  7. Congenital erythropoietic porphyria: prolonged high-level expression and correction of the heme biosynthetic defect by retroviral-mediated gene transfer into porphyric and erythroid cells.

    Science.gov (United States)

    Kauppinen, R; Glass, I A; Aizencang, G; Astrin, K H; Atweh, G F; Desnick, R J

    1998-09-01

    Congenital erythropoietic porphyria (CEP) is an autosomal recessive disorder resulting from the deficient activity of the heme biosynthetic enzyme uroporphyrinogen III synthase (UROS). Severely affected patients are transfusion dependent and have mutilating cutaneous manifestations. Successful bone marrow transplantation has proven curative, providing the rationale for stem cell gene therapy. Toward this goal, two retroviral MFG vectors containing the UROS cDNA were constructed, one with the wild-type sequence (MFG-UROS-wt) and a second with an optimized Kozak consensus sequence (MFG-UROS-K). Following transduction of CEP fibroblasts, the MFG-UROS-wt and MFG-UROS-K vectors increased the endogenous activity without selection to levels that were 18- and 5-fold greater, respectively, than the mean activity in normal fibroblasts. Notably, the MFG-UROS-wt vector expressed UROS activity in CEP fibroblasts at these high levels for over 6 months without cell toxicity. Addition of either delta-aminolevulinic acid (ALA) or ferric chloride did not affect expression of the transduced UROS gene nor did the increased concentrations of uroporphyrin isomers or porphyrin intermediates affect cell viability. Similarly, transduction of CEP lymphoblasts with the MFG-UROS-wt vector without G418 selection increased the endogenous UROS activity by 7-fold or almost 2-fold greater than that in normal lymphoblasts. Transduction of K562 erythroleukemia cells by cocultivation with the MFG-UROS-wt producer cells increased their high endogenous UROS activity by 1.6-fold without selection. Clonally isolated K562 cells expressed UROS for over 4 months at mean levels 4.7-fold greater than the endogenous activity without cell toxicity. Thus, the prolonged, high-level expression of UROS in transduced CEP fibroblasts and lymphoblasts, as well as in transduced K562 erythroid cells, demonstrated that the enzymatic defect in CEP cells could be corrected by retroviral-mediated gene therapy without

  8. Congenital Heart Defects (For Parents)

    Science.gov (United States)

    ... Development Infections Diseases & Conditions Pregnancy & Baby Nutrition & Fitness Emotions & Behavior School & Family Life First Aid & Safety Doctors & ... telltale signs such as: a bluish tinge or color (cyanosis) to the lips, tongue, and/or nailbeds ...

  9. Facts about Congenital Heart Defects

    Science.gov (United States)

    ... the following symptoms: Blue-tinted nails or lips Fast or troubled breathing Tiredness when feeding Sleepiness Diagnosis Some CHDs may be diagnosed during pregnancy using a special type of ultrasound called a fetal echocardiogram, which creates ultrasound pictures ...

  10. Congenital Heart Defects and CCHD

    Science.gov (United States)

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

  11. Expression of Id2 in the Second Heart Field and Cardiac Defects in Id2 Knock-Out Mice

    NARCIS (Netherlands)

    Jongbloed, M. R. M.; Vicente-Steijn, R.; Douglas, Y. L.; Wisse, L. J.; Mori, K.; Yokota, Y.; Bartelings, M. M.; Schalij, M. J.; Mahtab, E. A.; Poelmann, R. E.; Gittenberger-De Groot, A. C.

    2011-01-01

    The inhibitor of differentiation Id2 is expressed in mesoderm of the second heart field, which contributes myocardial and mesenchymal cells to the primary heart tube. The role of Id2 in cardiac development is insufficiently known. Heart development was studied in sequential developmental stages in I

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

    Directory of Open Access Journals (Sweden)

    J.H. Williams

    2005-06-01

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

  13. Percutaneous closure of postinfarction ventricular septal defect: cardiac magnetic resonance-guided case selection and postprocedure evaluation.

    Science.gov (United States)

    Artis, Nigel J; Thomson, John; Plein, Sven; Greenwood, John P

    2011-01-01

    Despite modern surgical techniques, complications and early mortality remain high following postinfarction ventricular septal defect (VSD) repair. It is now possible to close these acquired defects percutaneously using, for example, the Amplatzer postinfarct muscular VSD device. Cardiovascular magnetic resonance is an important tool in determining appropriate case selection and device sizing as it can provide a multicomponent assessment of the VSD anatomy, ventricular volumes and function, infarct extent, and left-to-right shunt calculations.

  14. Congenital Hypothyroidism

    Science.gov (United States)

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

  15. The Congenital Heart Disease Genetic Network Study: rationale, design, and early results.

    Science.gov (United States)

    Gelb, Bruce; Brueckner, Martina; Chung, Wendy; Goldmuntz, Elizabeth; Kaltman, Jonathan; Kaski, Juan Pablo; Kim, Richard; Kline, Jennie; Mercer-Rosa, Laura; Porter, George; Roberts, Amy; Rosenberg, Ellen; Seiden, Howard; Seidman, Christine; Sleeper, Lynn; Tennstedt, Sharon; Kaltman, Jonathan; Schramm, Charlene; Burns, Kristin; Pearson, Gail; Rosenberg, Ellen

    2013-02-15

    Congenital heart defects (CHD) are the leading cause of infant mortality among birth defects, and later morbidities and premature mortality remain problematic. Although genetic factors contribute significantly to cause CHD, specific genetic lesions are unknown for most patients. The National Heart, Lung, and Blood Institute-funded Pediatric Cardiac Genomics Consortium established the Congenital Heart Disease Genetic Network Study to investigate relationships between genetic factors, clinical features, and outcomes in CHD. The Pediatric Cardiac Genomics Consortium comprises 6 main and 4 satellite sites at which subjects are recruited, and medical data and biospecimens (blood, saliva, cardiovascular tissue) are collected. Core infrastructure includes an administrative/data-coordinating center, biorepository, data hub, and core laboratories (genotyping, whole-exome sequencing, candidate gene evaluation, and variant confirmation). Eligibility includes all forms of CHD. Annual follow-up is obtained for probands age is 5.5 years. The one third enrolled at age <1 year are contacted annually for follow-up information. The distribution of CHD favors more complex lesions. Approximately, 11% of probands have a genetic diagnosis. Adequate DNA is available from 97% and 91% of blood and saliva samples, respectively. Genomic analyses of probands with heterotaxy, atrial septal defects, conotruncal, and left ventricular outflow tract obstructive lesions are underway. The scientific community's use of Pediatric Cardiac Genomics Consortium resources is welcome.

  16. Case series: Congenital left ventricular diverticulum

    Directory of Open Access Journals (Sweden)

    Shah Dharita

    2010-01-01

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

  17. 围孕期营养因素与先天性心脏病发病的关系%Relationship between periconceptional nutritional factors and the risk of congenital heart defects

    Institute of Scientific and Technical Information of China (English)

    王定美

    2016-01-01

    先天性心脏病是人体在胚胎发育时期受各种因素影响导致心脏及血管发育异常的先天性畸形.先天性心脏病是人类最常见的先天畸形,是导致婴儿发病和病死的重要原因.即使可以经过外科手术矫治畸形,先天性心脏病患儿也要面临各种手术并发症甚至疾病复发的风险,给社会带来巨大的经济压力.目前普遍认为先天性心脏病的发生受遗传因素和环境因素的共同影响.近年来围孕期营养因素与先天性心脏病的发病关系成为研究热点.研究结果显示,叶酸及其他围孕期营养素与先天性心脏病的发生有密切关系,围孕期母亲适当补充这些营养素可降低子代先天性心脏病的发生风险.该文就叶酸、维生素A、锌、维生素B、维生素E围孕期关键营养因素与先天性心脏病的关系,从病因、发病机制及预防方面进行综述,为疾病的预防提供基础.%Congenital heart defects (CHD) is one of congenital malformations affected by various factors during embryonic development,which leads to heart or vascular abnormalities.CHD is the most common congenital malformations,and it is an important cause of infant morbidity and mortality.CHD can be corrected by surgery.But surgery may also lead to a variety of surgical complications and even the risk of disease recurrence,which has brought enormous economic burden.It is widely recognized that the incidence of congenital heart defects is caused by the combined effect of genetic factors and environmental factors.In recent years,growing attention has been paid to the correlation between maternal periconceptional nutritioaal factors and the risk of neonatal congenital heart defects.Recent research suggests that the incidence of CHD is associated with supplements including folic acid,vitamin A and zinc,and maternal factors may reduce or prevent the incidence of CHD by getting the supplements of these nutrients appropriately during

  18. Congenital skin defect with a literature review: a report of 3 cases%先天性皮肤缺损三例报告并文献复习

    Institute of Scientific and Technical Information of China (English)

    岳铭; 李明辉; 杨合英; 张大; 姚阳迪; 王家祥

    2016-01-01

    Objective To explore the etiology,classification,treatment and prognosis of congenital absence of skin so as to improve its management.Methods Retrospective analyses were performed for the clinical characteristics and treatment in 3 cases of congenital absence of skin at our hospital.And 305 cases of congenital absence of skin were collected from the literature.Results Three cases of skin defect healed by parchment-like scar tissue.And there was neither contracture nor dysfunction.Among 305 cases,there were 8 deaths and 234 cases received conservative treatments.And 5/63 surgical eases were affected by scar contracture.The mortality and disability rates were low.Conclusions The etiology of congenital skin defect has remained elusive.Superficial wound may be managed conservatively.Cases of bone exposure,vital organ exposure and deep defect should be operated.If treated properly,the prognosis is excellent without any significant impact of daily life.%目的 探讨先天性皮肤缺损的病因、分类、治疗及预后,提高该病的诊治水平.方法 回顾性分析我院治疗的3例先天性皮肤缺损患儿发病特点、治疗过程、方法,并复习国内外文献中报道的皮肤缺损305例,总结先天性皮肤缺损的临床特点及诊治经验.结果 3例患儿缺损皮肤均由羊皮纸样瘢痕组织愈合,无组织挛缩,无活动障碍.305例患儿中死亡8例;保守治疗234例;手术治疗63例,其中因瘢痕挛缩影响肢体功能者5例.该病致死率、致残率低,预后良好.结论 先天性皮肤缺损是一种病因尚不明确的疾病,创面表浅者多可经保守治疗后痊愈,骨外露、重要脏器外露、深度缺损宜适时采用手术治疗,该疾病若能给予正确处理,预后良好,对患儿日常生活影响小.

  19. 经胸微创封堵治疗对先天性心脏病患者心脏重构的近期影响%Short-term effect of minimally invasive transthoracic closure on cardiac remodeling in patients with congenital heart disease

    Institute of Scientific and Technical Information of China (English)

    王海永; 陈辉; 阳玉晶; 胡江苇; 李安桂; 杜振宗; 宋剑非

    2015-01-01

    目的:探讨经胸微创封堵治疗先天性心脏病术后近期心脏几何构型的变化。方法先天性心脏病患者31例,其中单纯性室间隔缺损(VSD)10例和房间隔缺损(ASD)21例,观察患者封堵术前、术后3个月左室内径(LVD)、左房内径(LAD)、右房内径(RAD)和右室内径(RVD)大小及左室射血分数(LVEF)变化。结果31例患者中封堵成功29例(93.5%),其中单纯性VSD患者10例,单纯性ASD患者19例;失败2例(6.5%)均为单纯性ASD患者。封堵术后3个月,10例VSD患者LAD和LVD较术前明显缩小(P<0.05),RVD及LVEF明显增加(P<0.05);19例ASD患者RAD及RVD较术前明显减小(P<0.05),LVD及LVEF明显增加(P<0.05)。结论经胸微创封堵治疗ASD和VSD能有效地改善先天性心脏病患者近期心脏重构。%Objective To explore the short-term changes of cardiac geometric morphology after minimally invasive transthoracic closure of congenital heart disease.Methods Thirty-one patients with congenital heart disease were enrolled in this study,including 10 cases of ventricular septal defect (VSD) and 21 cases of atrial septal defect(ASD).Left ventricular diameter(LVD),left atrial diameter (LAD),right atrial diameter(RAD),right ventricular diameter(RVD) and left ventricular ejection fraction(LVEF) were measured before and three months after the closure.Results Of 31 cases,the closure was successfully completed in 29 cases(93.5%) including 10 cases of VSD and 19 cases of ASD,but was failed in 2 cases of ASD(6.5%).Three months after the closure,for the 10 patients with VSD,LAD and LVD decreased significantly,while RVD and LVEF increased significantly compared with those before the closure(both P<0.05). For the 19 patients with ASD,RAD and RVD decreased significantly,while LVD and LVEF increased significantly compared with those before the closure(both P<0.05).Conclusion Minimally invasive

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

    Directory of Open Access Journals (Sweden)

    Hedén Bo

    2009-08-01

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

  1. Birth outcomes of cases with unclassified multiple congenital abnormalities and pregnancy complications in their mothers depending on the number of component defects. Population-based case-control study.

    Science.gov (United States)

    Puhó, Erzsébet H; Czeizel, Andrew E; Acs, Nándor; Bánhidy, Ferenc

    2008-09-01

    Multiple congenital abnormalities (MCA) represent the most severe category of structural birth defects, (i.e. congenital abnormalities [CA]). Unfortunately, most MCA are not recognized and/or identified as MCA syndromes or MCA associations in the clinical practice. The term unclassified MCA (UMCA) is used for this category of MCA. We decided to evaluate the component CA of UMCA cases. The population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities (1980-1996) was evaluated. 'False' MCA, such as complex CA, polytopic field defects and sequences were excluded from the category of MCA. In addition, MCA syndromes caused by chromosomal aberrations and major mutant genes with preconceptional origin were excluded from the dataset of the Surveillance. MCA syndromes caused by teratogens and MCA associations with well-defined component CA were also excluded in the study. Thus, only UMCA cases (i) without the recognition of previously delineated MCA syndromes (ii) and/or without the identification of new MCA syndromes or (iii) caused by random combination of CA were included in the study. We compared data from 1349 cases with UMCA, 2405 matched population controls without any CA, and 21 494 malformed controls with isolated CA. There was a higher rate of stillbirth and a moderate male excess in UMCA cases, a somewhat shorter gestational age at delivery and an obvious reduction in birthweight. The intrauterine fetal growth retardation and rate of low-birthweight newborns showed an association with the number of component CA in UMCA cases. A similar association was not found with gestational age and the rate of preterm birth. UMCA represent one of the most severe categories of CA. The degree of intrauterine fetal growth retardation depends on number of component CA in UMCA cases.

  2. Microcephaly and Other Birth Defects: Zika

    Science.gov (United States)

    ... ol Português Recommend on Facebook Tweet Share Compartir Zika and Microcephaly Microcephaly is a birth defect in ... pregnancy or has stopped growing after birth. Congenital Zika Syndrome Congenital Zika syndrome is a pattern of ...

  3. Large multifocal cardiac myxoma causing the sudden unexpected death of a 2-month-old infant--a rapidly growing, acquired lesion versus a congenital process?: a case report.

    Science.gov (United States)

    Kure, Kiyoe; Lingamfelter, Daniel; Taboada, Eugenio

    2011-06-01

    We report the occurrence of a clinically undiagnosed biatrial myxoma with left ventricular involvement in a 2-month-old male infant, resulting in sudden death. During a routine well-baby examination, a grade (34) holosystolic murmur was detected at the left sternal border with radiation to the axilla and back. On the following day, the patient collapsed and died suddenly. An autopsy revealed a large multifocal neoplasm diffusely involving the aortic valve while displaying mitral, tricuspid, and left ventricular extensions. The ensuing histopathologic and immunohistochemical studies were diagnostic for myxoma. We discuss the occurrence of cardiac myxoma within the pediatric population and review the literature as to theorize whether this lesion was a congenital process versus a rapidly growing tumor that developed after the child was born. Lastly, we address the potential for sudden death in patients with such tumors.

  4. Nomenclature and databases for the surgical treatment of congenital cardiac disease - an updated primer and an analysis of opportunities for improvement

    NARCIS (Netherlands)

    Jacobs, Jeffrey Phillip; Jacobs, Marshall Lewis; Mavroudis, Constantine; Backer, Carl Lewis; Lacour-Gayet, Francois G.; Tchervenkov, Christo I.; Franklin, Rodney C. G.; Beland, Marie J.; Jenkins, Kathy J.; Walters, Hal; Bacha, Emile A.; Maruszewski, Bohdan; Kurosawa, Hiromi; Clarke, David Robinson; Gaynor, J. William; Spray, Thomas L.; Stellin, Giovanni; Ebels, Tjark; Krogmann, Otto N.; Aiello, Vera D.; Colan, Steven D.; Weinberg, Paul; Giroud, Jorge M.; Everett, Allen; Wernovsky, Gil; Elliott, Martin J.; Edwards, Fred H.

    2008-01-01

    This review discusses the historical aspects, current state of the art, and potential future advances in the areas of nomenclature and databases for the analysis Of Outcomes of treatments for patients with congenitally malformed hearts. We will consider the current state of analysis of outcomes, lay

  5. Knowledge-based 3D reconstruction of the right ventricle : comparison with cardiac magnetic resonance in adults with congenital heart disease

    NARCIS (Netherlands)

    Trzebiatowska-Krzynska, Aleksandra; Driessen, Mieke; Sieswerda, GT; Wallby, Lars; Swahn, Eva; Meijboom, Folkert

    2015-01-01

    AIM: Assessment of right ventricular (RV) function is a challenge, especially in patients with congenital heart disease (CHD). The aim of the present study is to assess whether knowledge-based RV reconstruction, used in the everyday practice of an echo-lab for adult CHD in a tertiary referral center

  6. Cardiac surgery for Kartagener syndrome.

    Science.gov (United States)

    Tkebuchava, T; von Segesser, L K; Niederhäuser, U; Bauersfeld, U; Turina, M

    1997-01-01

    Two patients (one girl, one boy) with Kartagener syndrome (situs inversus, bronchiectasis, sinusitis), despite pulmonary problems and associated congenital cardiac anomalies, were operated on at the ages of 4 years and 7 years, respectively. They had had previous palliative treatment at the age of 3 months and 1.3 years, respectively. Both postoperative periods after total correction were without significant complications. Long-term follow-up was available for 9 and 19 years, respectively, with no manifestations of heart insufficiency. Both patients are physically active, and neither requires cardiac medication. Patients with Kartagener syndrome and associated congenital cardiac anomalies can successfully undergo multiple cardiac operations with good long-term outcome.

  7. 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.

  8. Transcatheter Mitral Paravalvular Leak Closure Facilitated by Preprocedural Cardiac CT for Simulation of Fluoroscopic Anatomy and Paravalvular Defect Localization.

    Science.gov (United States)

    Korsholm, Kasper; Mortensen, Ulrik; Jensen, Jesper Møller; Piazza, Nicolo; Thériault-Lauzier, Pascal; Nielsen-Kudsk, Jens Erik

    2017-02-01

    Paravalvular leakage (PVL) occurs in 6%-15% of cases after surgical heart valve replacement. A percutaneous approach is increasingly used to close PVLs as an alternative to repeat surgery. Computed tomography (CT) can be used for simulation of fluoroscopic cardiac anatomy. This technique allows preprocedural definition of optimal C-arm angulations and PVL localization in reference to fluoroscopic views. It is very helpful for guidewire crossing of the PVL and positioning of the closure device. We report a case with the first use of dedicated software for fluoroscopic simulation (FluoroCT) in transcatheter mitral PVL closure.

  9. VACTERL (vertebral anomalies, anal atresia or imperforate anus, cardiac anomalies, tracheoesophageal fistula, renal and limb defect spectrum presenting with portal hypertension: a case report

    Directory of Open Access Journals (Sweden)

    Losa Ignatius

    2010-05-01

    Full Text Available Abstract Introduction We report for the first time a unique case of VACTERL (vertebral anomalies, anal atresia or imperforate anus, cardiac anomalies, tracheoesophageal fistula, renal and limb defect spectrum associated with portal hypertension. The occurrence of both VACTERL spectrum and extrahepatic portal hypertension in a patient has not been reported in the literature. We examined whether or not there was any association between extrahepatic portal hypertension and VACTERL spectrum. Case Presentation A two-and-half-year-old Caucasian girl with VACTERL spectrum presented with hematemesis and abdominal distension. She had caput medusae, ascites, splenomegaly, gastric and esophageal varices. Her liver function tests were within normal limits. Magnetic resonance imaging of the liver with contrast showed a thready portal vein with collateral vessels involving both right and left portal veins without intrahepatic duct dilation. Conclusion A thready portal vein, with features of extrahepatic portal hypertension, is a rare non- VACTERL-type defect in patients with VACTERL spectrum. Understandably, clinicians should give low priority to looking for portal hypertension in VACTERL spectrum patients presenting with gastrointestinal bleeding. However before routinely looking for a thready portal vein and/or extrahepatic portal hypertension in asymptomatic VACTERL spectrum patients, we need further evidence to support this rare association.

  10. Bioresorbable adhesion barrier for reducing the severity of postoperative cardiac adhesions: Focus on REPEL-CV®

    Directory of Open Access Journals (Sweden)

    Martin Haensig

    2011-01-01

    Full Text Available Martin Haensig, Friedrich Wilhelm Mohr, Ardawan Julian RastanDepartment of Cardiac Surgery, Heart Center, University of Leipzig, Leipzig, GermanyAbstract: Treatment of a number of congenital heart defects often necessitates staged surgical intervention. In addition, substantial improvements in postoperative cardiac care and more liberal use of biological valve substitutes have resulted in many adult patients surviving to become potential candidates for reoperations to repair or replace valves or to undergo additional revascularization procedures. In all these scenarios, surgeons are confronted with cardiac adhesions, leading to an increased surgical risk. Thus, bioresorbable adhesion barriers had become of increasing interest because they are easy to use, and safe and effective. This review focuses on the mechanisms by which REPEL-CV® prevents adhesive processes, as well as the development, design, and materials used, and also summarizes efficacy studies, clinical data, safety, and current role in therapy.Keywords: adhesion prevention, bioresorbable copolymer, cardiac reoperation

  11. Angiographic features of rapidly involuting congenital hemangioma (RICH)

    Energy Technology Data Exchange (ETDEWEB)

    Konez, Orhan; Burrows, Patricia E. [Department of Radiology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Mulliken, John B. [Division of Plastic Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Fishman, Steven J. [Department of Pediatric Surgery, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States); Kozakewich, Harry P.W. [Department of Pathology, Children' s Hospital Boston, Harvard Medical School, 300 Longwood Avenue, Boston, MA 02115 (United States)

    2003-01-01

    Rapidly involuting congenital hemangioma (RICH) is a recently recognized entity in which the vascular tumor is fully developed at birth and undergoes rapid involution. Angiographic findings in two infants with congenital hemangioma are reported and compared with a more common postnatal infantile hemangioma and a congenital infantile fibrosarcoma. Congenital hemangiomas differed from infantile hemangiomas angiographically by inhomogeneous parenchymal staining, large and irregular feeding arteries in disorganized patterns, arterial aneurysms, direct arteriovenous shunts, and intravascular thrombi. Both infants had clinical evidence of a high-output cardiac failure and intralesional bleeding. This congenital high-flow vascular tumor is difficult to distinguish angiographically from arteriovenous malformation and congenital infantile fibrosarcoma. (orig.)

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

    Directory of Open Access Journals (Sweden)

    B.J.M. Mulder

    2010-12-01

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

  13. Birth Defects (For Parents)

    Science.gov (United States)

    ... this virus during pregnancy, her child may have low birth weight, intellectual disability (mental retardation) or learning disabilities, ... and central nervous system problems. A child with late congenital syphilis may have abnormalities of the ... Diagnosing Birth Defects Many birth defects are diagnosed even before ...

  14. 小儿先天性室间隔缺损介入治疗心电改变及处理%Change of electrocardiogram and treatment in the children with congenital ventricular septal defect by interventional processes

    Institute of Scientific and Technical Information of China (English)

    王慧深; 李运泉; 陈国桢; 覃有振; 李淑娟; 李格丽; 李渝芬; 钱明阳

    2008-01-01

    目的 分析小儿先天性室间隔缺损(VSD)介入治疗后的心电图(ECG)变化,探索避免严重心律失常的发生.方法 记录260例介入封堵VSD术前后的ECG,据此分成术后心律失常组和无心律失常组(对照组),对发生完全性或重度房室传导阻滞(AVB)的患儿及时营养心肌和减轻心肌水肿治疗,必要时放置临时起搏器.结果 心律失常组82例(31.5%),对照组178例.心律失常组中4例(1.5%)为完全性或重度AVB.36例(13.8%)给予营养心肌等药物处理.两组VSD径比较无显著差异(P>0.05);心律失常组较对照组年龄小,体质量轻(P<0.05),选用封堵器较对照组大(P<0.05).心率、QRS时限、PR间期、QT间期和VTc封堵术前后差异有统计学意义(P<0.05).结论 VSD介入封堵术中和术后需密切注意ECG改变,避免选择过大封堵器.出现完全性右束支传导阻滞(CRBBB)、完全性左束支传导阻滞(CLBBB)、二度AVB者,应尽早营养心肌治疗;完全性或重度AVB者,尽早安装临时起搏器.%Objective To analysis the change of electrocardiogram(ECG)in the children with congenital ventricular septal defect(VSD)by interventional processes and to explore how to decrease the incidence of serious arrhythmias.Methods To record the ECG before and after interventional closure in the 260 patients that hey were divided into arrhythmia group and no arrhythmia group(control group).The patients were treated with nutrition of cardiac muscle and medicines of reducing the cardiac muscle dropsy when they suffered from complete or serious complete or severe atrioventricuhr block(AVB)even underwent the temporary pacemaker quickly.Results There were 178 csses in control group.82 cuses(31.5%)had arrhythmiag after the interventional,in which 4 cases(1.5%)were complete/serious AVB.36 cases(13.8%)were given medicine above.The age was smaller and the body weigh was less in the arrhythmia group than that of control group(P<0.05).The device occluder was bigger in

  15. Cardiac imaging in adults

    Energy Technology Data Exchange (ETDEWEB)

    Jaffe, C.C.

    1987-01-01

    This book approaches adult cardiac disease from the correlative imaging perspective. It includes chest X-rays and angiographs, 2-dimensional echocardiograms with explanatory diagrams for clarity, plus details on digital radiology, nuclear medicine techniques, CT and MRI. It also covers the normal heart, valvular heart disease, myocardial disease, pericardial disease, bacterial endocarditis, aortic aneurysm, cardiac tumors, and congenital heart disease of the adult. It points out those aspects where one imaging technique has significant superiority.

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

    OpenAIRE

    Rafael Fabiano M. Rosa; Zen, Paulo Ricardo G.; Carla Graziadio; Giorgio Adriano Paskulin

    2011-01-01

    OBJETIVO: Revisar as características clínicas, etiológicas e diagnósticas da síndrome de deleção 22q11 e sua associação com as cardiopatias congênitas. FONTES DOS DADOS: Foram pesquisados artigos científicos presentes nos portais Medline, Lilacs e SciELO, utilizando-se descritores específicos como "22q11", "DiGeorge syndrome", "velocardiofacial syndrome", "congenital heart defects" e "cardio-vascular malformations". O período adotado para a revisão foi de 1980 a 2009. SÍNTESE DOS DADOS: As ma...

  17. Improved functional expression of human cardiac kv1.5 channels and trafficking-defective mutants by low temperature treatment.

    Directory of Open Access Journals (Sweden)

    Wei-Guang Ding

    Full Text Available We herein investigated the effect of low temperature exposure on the expression, degradation, localization and activity of human Kv1.5 (hKv1.5. In hKv1.5-expressing CHO cells, the currents were significantly increased when cultured at a reduced temperature (28°C compared to those observed at 37°C. Western blot analysis indicated that the protein levels (both immature and mature proteins of hKv1.5 were significantly elevated under the hypothermic condition. Treatment with a proteasome inhibitor, MG132, significantly increased the immature, but not the mature, hKv1.5 protein at 37°C, however, there were no changes in either the immature or mature hKv1.5 proteins at low temperature following MG132 exposure. These observations suggest that the enhancement of the mature hKv1.5 protein at reduced temperature may not result from the inhibition of proteolysis. Moreover, the hKv1.5 fluorescence signal in the cells increased significantly on the cell surface at 28°C versus those cultured at 37°C. Importantly, the low temperature treatment markedly shifted the subcellular distribution of the mature hKv1.5, which showed considerable overlap with the trans-Golgi component. Experiments using tunicamycin, an inhibitor of N-glycosylation, indicated that the N-glycosylation of hKv1.5 is more effective at 28°C than at 37°C. Finally, the hypothermic treatment also rescued the protein expression and currents of trafficking-defective hKv1.5 mutants. These results indicate that low temperature exposure stabilizes the protein in the cellular organelles or on the plasma membrane, and modulates its maturation and trafficking, thus enhancing the currents of hKv1.5 and its trafficking defect mutants.

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

    Directory of Open Access Journals (Sweden)

    Carla Marques Rondon Campos

    2015-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-01-15

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

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

    Institute of Scientific and Technical Information of China (English)

    王本极; 林孟相; 陈如杰; 郭献阳; 金胜威; 程碧环

    2014-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

    郭玥; 吕宁; 尹小龙

    2013-01-01

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

  2. Ventricular Septal Defect (For Parents)

    Science.gov (United States)

    ... Electrocardiogram) Anesthesia - What to Expect Tetralogy of Fallot Coarctation of the Aorta Patent Ductus Arteriosus (PDA) Getting ... Murmurs Atrial Septal Defect Cardiac Catheterization EKG (Video) Coarctation of the Aorta Atrial Septal Defect Ventricular Septal ...

  3. Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

    Directory of Open Access Journals (Sweden)

    Felipe Alves Mourato

    2014-06-01

    Full Text Available OBJECTIVE:To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis.METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7.RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1% and 112 (81.2% were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age.CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.

  4. Clinical recommendations of cardiac magnetic resonance, Part II: inflammatory and congenital heart disease, cardiomyopathies and cardiac tumors: a position paper of the working group 'Applicazioni della Risonanza Magnetica' of the Italian Society of Cardiology.

    Science.gov (United States)

    Pontone, Gianluca; Di Bella, Gianluca; Silvia, Castelletti; Maestrini, Viviana; Festa, Pierluigi; Ait-Ali, Lamia; Masci, Pier Giorgio; Monti, Lorenzo; di Giovine, Gabriella; De Lazzari, Manuel; Cipriani, Alberto; Guaricci, Andrea I; Dellegrottaglie, Santo; Pepe, Alessia; Marra, Martina Perazzolo; Aquaro, Giovanni D

    2017-04-01

    The current document was developed by the working group on the 'application of cardiac magnetic resonance' of the Italian Society of Cardiology to provide a perspective on the current state of technical advances and clinical cardiac magnetic resonance applications and to inform cardiologists how to implement their clinical and diagnostic pathway with the introduction of this technique in the clinical practice. Appropriateness criteria were defined using a score system: score 1-3 = inappropriate (test is not generally acceptable and is not a reasonable approach for the indication), score 4-6 = uncertain (test may be generally acceptable and may be a reasonable approach for the indication but more research and/or patient information is needed to classify the indication definitively) and score 7-9 = appropriate (test is generally acceptable and is a reasonable approach for the indication).

  5. Congenital syphilis

    Science.gov (United States)

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

  6. [Congenital thrombophilia].

    Science.gov (United States)

    Kojima, Tetsuhito

    2016-03-01

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

  7. Sports participation in adults with congenital heart disease

    NARCIS (Netherlands)

    P. Opic (Petra); E.M.W.J. Utens (Elisabeth); J.A.A.E. Cuypers (Judith); M. Witsenburg (Maarten); A.E. van den Bosch (Annemien); Domburg, R.V. (Ron Van); A.J.J.C. Bogers (Ad); H. Boersma (Eric); Pelliccia, A. (Antonio); J.W. Roos-Hesselink (Jolien)

    2015-01-01

    textabstractBackground: It is unclearwhether sports participation in adultswith repaired congenital heart disease is safe and has benefits. Methods: Congenital heart disease (ConHD) patients who underwent corrective surgery for Atrial Septal Defect, Ventricular Septal Defect, Pulmonary Stenosis, Tet

  8. Embryology of congenital diaphragmatic hernia.

    Science.gov (United States)

    Kluth, D; Keijzer, R; Hertl, M; Tibboel, D

    1996-11-01

    It is still generally believed that the defect in congenital diaphragmatic hernia results from failure of the so-called pleuroperitoneal canals (PPCs) to close at the end of the embryonic period (8th gestational week). Furthermore, it is assumed that gut could enter the thoracic cavity through this defect, causing compression and finally hypoplasia of the lung. However, this sequence of embryological events has never been studied, and many details even of normal diaphragmatic development are still unknown. Using scanning electron microscopy and a new animal model of congenital diaphragmatic hernia (CDH), the nitrofen rat model, the normal embryology of the diaphragm was reinvestigated and, for the first time, the crucial developmental steps of congenital diaphragmatic hernia formation were studied. The basic results were: (1) In normal development, the PPCs are never wide enough to allow herniation of gut loops. (2) The formation of the defect happens in an early embryonic period. (3) The early ingrowth of liver through the defect is of major importance for the formation of CDH. In another set of experiments, the nitrofen rat model of congenital diaphragmatic hernias was used to study the cellular mechanisms involved during epithelial and mesenchymal growth and differentiation in normal and in abnormal lungs. These results, combined with selected culture techniques (eg, branching morphogenesis and epithelio-mesenchymal interaction) probably open new ways to a better understanding of the mechanisms that finally lead to an abnormal lung in CDH.

  9. Congenital lipodystrophies and dyslipidemias.

    Science.gov (United States)

    Prieur, Xavier; Le May, Cedric; Magré, Jocelyne; Cariou, Bertrand

    2014-09-01

    Lipodystrophies are rare acquired and genetic disorders characterized by the selective loss of adipose tissue. One key metabolic feature of patients with congenital inherited lipodystrophy is hypertriglyceridemia. The precise mechanisms by which the lack of adipose tissue causes dyslipidemia remain largely unknown. In recent years, new insights have arisen from data obtained in vitro in adipocytes, yeast, drosophila, and very recently in several genetically modified mouse models of generalized lipodystrophy. A common metabolic pathway involving accelerated lipolysis and defective energy storage seems to contribute to the dyslipidemia associated with congenital generalized lipodystrophy syndromes, although the pathophysiological changes may vary with the nature of the mutation involved. Therapeutic management of dyslipidemia in patients with lipodystrophy is primarily based on specific approaches using recombinant leptin therapy. Preclinical studies suggest a potential efficacy of thiazolidinediones that remains to be assessed in dedicated clinical trials.

  10. Galnt1 is required for normal heart valve development and cardiac function.

    Directory of Open Access Journals (Sweden)

    E Tian

    Full Text Available Congenital heart valve defects in humans occur in approximately 2% of live births and are a major source of compromised cardiac function. In this study we demonstrate that normal heart valve development and cardiac function are dependent upon Galnt1, the gene that encodes a member of the family of glycosyltransferases (GalNAc-Ts responsible for the initiation of mucin-type O-glycosylation. In the adult mouse, compromised cardiac function that mimics human congenital heart disease, including aortic and pulmonary valve stenosis and regurgitation; altered ejection fraction; and cardiac dilation, was observed in Galnt1 null animals. The underlying phenotype is aberrant valve formation caused by increased cell proliferation within the outflow tract cushion of developing hearts, which is first detected at developmental stage E11.5. Developing valves from Galnt1 deficient animals displayed reduced levels of the proteases ADAMTS1 and ADAMTS5, decreased cleavage of the proteoglycan versican and increased levels of other extracellular matrix proteins. We also observed increased BMP and MAPK signaling. Taken together, the ablation of Galnt1 appears to disrupt the formation/remodeling of the extracellular matrix and alters conserved signaling pathways that regulate cell proliferation. Our study provides insight into the role of this conserved protein modification in cardiac valve development and may represent a new model for idiopathic valve disease.

  11. Relationships between left heart chamber dilatation on echocardiography and left-to-right ventricle shunting quantified by cardiac catheterization in children with ventricular septal defects.

    Science.gov (United States)

    Gokalp, Selman; Guler Eroglu, Ayse; Saltik, Levent; Koca, Bulent

    2014-04-01

    Left atrium and/or left ventricle dilatation on echocardiography is considered to be an indication for closure of ventricular septal defects (VSD). No study has addressed the accuracy of using dilated left heart chambers when defining significant left-to-right shunting quantified by cardiac catheterization in isolated small or moderate VSDs. In this study, the relation between dilated left heart chambers, measured by echocardiography, and left-to-right ventricle shunting, quantified by cardiac catheterization, was evaluated in patients with isolated VSD. The medical records of all patients with isolated VSD who had undergone catheterization from 1996 to 2010 were examined retrospectively. Normative data for left heart chambers adjusted for body weight (BW) and body surface area (BSA) were used. The pulmonary-to-systemic flow ratio (Qp:Qs) was calculated by an oximetry technique. A total of 115 patients (mean age 7.3 ± 5 years) fulfilled the inclusion criteria. There was a statistically significant difference in terms of Qp:Qs between the patient groups with normal and dilated left heart chambers, when adjusted for BW and BSA (p = 0.001 and p = 0.002, respectively). But the relationships between Qp:Qs and left heart chamber sizes on echocardiography were not strong enough to be useful for making surgical decisions, as left heart chamber dilatation was not significantly associated with Qp:Qs ≥ 2 (p = 0.349 when adjusted for BW, p = 0.107 when adjusted for BSA). Left heart chamber dilatation was significantly associated with Qp:Qs ≥ 1.5 only when it was adjusted for BSA (for BW p = 0.022, for BSA p = 0.006). As a result, left heart chamber dilatation measured by echocardiography does not show significant left-to-right ventricle shunting, as quantified by catheterization. We still advocate that catheter angiography should be undertaken when left heart chambers are dilated in echocardiography in order to make decisions about closing small- to moderate-sized VSD.

  12. Pediatric cardiac postoperative care

    Directory of Open Access Journals (Sweden)

    Auler Jr. José Otávio Costa

    2002-01-01

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

  13. Congenital scoliosis - Quo vadis?

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    Debnath Ujjwal

    2010-01-01

    Full Text Available Congenital spinal vertebral anomalies can present as scoliosis or kyphosis or both. The worldwide prevalence of the vertebral anomalies is 0.5-1 per 1000 live births. Vertebral anomalies can range from hemi vertebrae (HV which may be single or multiple, vertebral bar with or without HV, block vertebrae, wedge shaped or butterfly vertebrae. Seventy per cent of congenital vertebral anomalies result in progressive deformities. The risk factors for progression include: type of defect, site of defect (junctional regions and patient′s age at the time of diagnosis. The key to success in managing these spinal deformities is early diagnosis and anticipation of progression. One must intervene surgically to halt the progression of deformity and prevent further complications associated with progressive deformity. Planning for surgery includes a preoperative MRI scan to rule out spinal anomalies such as diastematomyelia. The goals of surgical treatment for congenital spinal deformity are to achieve a straight growing spine, a normal standing sagittal profile, and a short fusion segment. The options of surgery include in situ fusion, convex hemi epiphysiodesis and hemi vertebra excision. These basic surgical procedures can be combined with curve correction, instrumentation and short segment fusion. Most surgeons prefer posterior (only surgery for uncomplicated HV excision and short segment fusion. These surgical procedures can be performed through posterior, anterior or combined approaches. The advocates of combined approaches suggest greater deformity correction possibilities with reduced incidence of pseudoarthrosis and minimize crankshaft phenomenon. We recommend posterior surgery for curves involving only an element of kyphosis or modest deformity, whereas combined anterior and posterior approach is indicated for large or lordotic deformities. In the last decade, the use of growing rods and vertebral expandable prosthetic titanium rib has improved the

  14. A Case with Microphthalmia and Multiple Congenital Anomalies

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    Ayça Sarı

    2013-12-01

    Full Text Available We present a 7-month-old girl with bilateral microphthalmia, sclerocornea, iris and chorioretinal coloboma, blepharophimosis and dacryostenosis. Microphthalmia is one of the most common features in many syndromes as Micro syndrome, oculodentodigital dysplasia, oculofaciocardiodental syndrome, and Lenz microphthalmia syndrome. Our patient’s clinical features also involved microcephaly, cleft palate, developmental delay, digital and urogenital anomalies, cardiac septal defects and hearing loss, which diagnosis is mostly consistent with the Lenz microphthalmia syndrome. Lenz microphthalmia syndrome is a very rare conditions and their expressions are more often in countries with high rates of consanguineous marriages. Hence, recognizing such rare syndromes in patients with multiple congenital anomalies is essential. (Turk J Ophthalmol 2013; 43: 468-70

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

    Science.gov (United States)

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

    2016-02-01

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

  16. Atrial – Ventricular Septal Defect

    Directory of Open Access Journals (Sweden)

    T Panagiotopoulos

    2009-05-01

    Full Text Available Atrial and ventricular septal defect constitute the most common congenital heart disease.Aim: Τhe aim of the present retrospective study was to record data and factors that affect atrial and ventricular septal defect.Method and material: The sample study included patients of both sexes who were hospitalized with diagnosis atrial and ventricular septal defect in a Cardiac Surgery hospital of Athens. A specially constructed printed form was used for data collection, where were recorded the demographic and personal variables, the pathological, surgical, cardiology and obstetric history, the habits of adults, as well as the personal characteristics of mothers. Analysis of data was performed by descriptive statistical analysis.Results: The sample study consisted of 101 individuals with diagnosis atrial or ventricular Septal Defect, of which 40% were boys and 60% girls. The 70% of the sample study suffered from atrial Septal Defect and the 30% suffered from ventricular Septal Defect. Regarding age, 12% of the sample study was 0-1 years old, 35% was >1 years old, 8% was >12-18 years old and 45% over than 18 years old. Regarding educational status of the adult participants, 9% was of 0-6 years education, 22%>6 -12 years, 13%>12 years. 14% of the adult paticipants smoked, 4% consumed alcohol and 5% smoked in conjunction with alcohol. In terms of the obstetric history of the sample studied, 32% of the cases had normal birth, 4% had a twin birth and 1% had a triplet one. According to the variables related to mothers, the mean age of the mother was 30 years and 3 months, 10% were smokers at pregnancy and 3% used chemical substance and mainly hair color. Also, the results of the present study showed that individuals of 12-18 and >18 years old did not suffer from ventricular Septal Defect, whereas the infants 0-1 years old did not suffer from Atrial Septal Defect. The mean value of age at the admission in intensive care unit was 7 months (12% for the infants

  17. Analysis of environmental risk factors in congenital heart defects%不同先天性心脏病类型的环境危险因素分析

    Institute of Scientific and Technical Information of China (English)

    曲艳吉; 刘小清; 麦劲壮; 聂志强; 欧艳秋; 高向民; 吴勇; 陈寄梅

    2015-01-01

    over birth weight ( OR = 6 . 56 , 95% CI:1. 19-36. 26), maternal low education, parity≥2 (OR=2. 08, 95%CI:1. 03-4. 22), virus infection in the first 3 months of pregnancy ( OR =4 . 30 , 95%CI: 1 . 27 -13 . 45 ) . The risk factors for left ventricular outflow tract obstruction CHD included father as factory worker ( OR=6 . 01 , 95%CI:1 . 05-34. 59). The risk factors for transposition of the great arteries included low birth weight (OR=12. 93, 95%CI:1. 14-146. 26), maternal low education, mother as factory worker (OR=3. 69, 95%CI:1. 53-8. 91). The risk factors for conditions with intra cardiac mixing of oxygenated and deoxygenated blood in-cluded parity=2 ( OR=3 . 45 , 95%CI:1 . 42-8 . 38 ) . The risk factors for other CHD included over birth weight (OR=4. 87, 95%CI:1. 19-19. 94), maternal abnormal reproduction history (OR=2. 96, 95%CI:1. 14 - 7. 68 ), virus infection ( OR = 4. 92, 95% CI: 1. 56 - 15. 47 ), medicine usage (OR=4. 90, 95%CI:1. 22-19. 77) or passive smoking (OR=10. 31, 95%CI:1. 25-85. 05) in the first 3 months of pregnancy. Conclusion:The environmental risk factors were discrepant among different categories of CHD. Further risk factors study of CHD phenotypes should be performed specially. To prevent CHD, attention should be paid to the risk factors which are related to multi or complex categories of CHD.%目的::探索不同类型先天性心脏病( congenital heart defects, CHD)的环境危险因素,为深入研究CHD表型的危险因素提供方向,为预防CHD积累证据。方法:使用广东省CHD监测网2004年至2012年登记的来自于17个地市、34家医疗机构的3038例CHD活产儿及其1∶1对照儿数据,先后采用单因素分析、多因素条件Logistic回归,分析6类CHD的环境危险因素。结果:左向右分流类CHD的危险因素包括低出生体重( OR=2.63,95%CI:2.04~3.39)或巨大儿(OR=2.21,95%CI:1.47~3.32),早产(OR=1.95,95%CI:1.53~2.49),多胎(OR=1.99,95%CI:1.22~3.26),产母教育程度

  18. Pre-conception Folic Acid and Multivitamin Supplementation for the Primary and Secondary Prevention of Neural Tube Defects and Other Folic Acid-Sensitive Congenital Anomalies.

    Science.gov (United States)

    Wilson, R Douglas; Wilson, R Douglas; Audibert, François; Brock, Jo-Ann; Carroll, June; Cartier, Lola; Gagnon, Alain; Johnson, Jo-Ann; Langlois, Sylvie; Murphy-Kaulbeck, Lynn; Okun, Nanette; Pastuck, Melanie; Deb-Rinker, Paromita; Dodds, Linda; Leon, Juan Andres; Lowel, Hélène L; Luo, Wei; MacFarlane, Amanda; McMillan, Rachel; Moore, Aideen; Mundle, William; O'Connor, Deborah; Ray, Joel; Van den Hof, Michiel

    2015-06-01

    Objectif : Offrir des renseignements à jour sur l’utilisation pré et postconceptionnelle d’acide folique par voie orale, avec ou sans supplément de multivitamines / micronutriments, aux fins de la prévention des anomalies du tube neural et d’autres anomalies congénitales. Ces renseignements aideront les médecins, les sages-femmes, les infirmières et les autres professionnels de la santé à contribuer aux efforts de sensibilisation des femmes quant à l’utilisation et aux posologies adéquates de la supplémentation en acide folique / multivitamines, avant et pendant la grossesse. Résultats : La littérature publiée a été récupérée par l’intermédiaire de recherches menées dans PubMed, Medline, CINAHL et la Cochrane Library en janvier 2011 au moyen d’un vocabulaire contrôlé et de mots clés appropriés (p. ex. « folic acid », « prenatal multivitamins », « folate sensitive birth defects », « congenital anomaly risk reduction », « pre-conception counselling »). Les résultats ont été restreints aux analyses systématiques, aux études observationnelles et aux essais comparatifs randomisés / essais cliniques comparatifs publiés en anglais entre 1985 et juin 2014. Les recherches ont été mises à jour de façon régulière et intégrées à la directive clinique jusqu’en juin 2014. La littérature grise (non publiée) a été identifiée par l’intermédiaire de recherches menées dans les sites Web d’organismes s’intéressant à l’évaluation des technologies dans le domaine de la santé et d’organismes connexes, dans des collections de directives cliniques, dans des registres d’essais cliniques, et auprès de sociétés de spécialité médicale nationales et internationales. Coûts, risques et avantages : Les coûts financiers sont ceux de la supplémentation quotidienne en vitamines et de la consommation d’un régime alimentaire santé enrichi en folate. Les risques sont ceux qui sont li

  19. Congenital Diaphragmatic Hernia

    Directory of Open Access Journals (Sweden)

    Tovar Juan A

    2012-01-01

    Full Text Available Abstract Congenital Diaphragmatic Hernia (CDH is defined by the presence of an orifice in the diaphragm, more often left and posterolateral that permits the herniation of abdominal contents into the thorax. The lungs are hypoplastic and have abnormal vessels that cause respiratory insufficiency and persistent pulmonary hypertension with high mortality. About one third of cases have cardiovascular malformations and lesser proportions have skeletal, neural, genitourinary, gastrointestinal or other defects. CDH can be a component of Pallister-Killian, Fryns, Ghersoni-Baruch, WAGR, Denys-Drash, Brachman-De Lange, Donnai-Barrow or Wolf-Hirschhorn syndromes. Some chromosomal anomalies involve CDH as well. The incidence is

  20. 儿童心脏外科重症监护病房医院感染临床研究%Nosocomial infection in patients with congenital heart disease after cardiac surgery in pediatric intensive care unit

    Institute of Scientific and Technical Information of China (English)

    张燕搏; 王飞燕; 王强; 王旭; 李守军; 闫军; 程军

    2011-01-01

    目的:探讨先天性心脏病患儿术后PICU医院感染的发生情况.方法:回顾性分析行心脏手术的2 258例先天性心脏病患儿的临床资料,观察术后PICU医院感染发生率、发生部位、病原茵分布及耐药性,并进行统计分析.结果:198例惠儿术后发生PICU医院感染,发生率8.77%,其中呼吸机相关性肺炎181例(8.02%)、脓毒血症10例(0.44%)、血管相关性感染7例(0.31%).198例惠儿标本中共检出病原茵242株,包括革兰阴性杆菌174株(71.9%),革兰阳性球茵30株(12.4%),真茵38株(15.7%).复杂先天性心脏病与简单先天性心脏病患儿术后医院感染发生率比较差异有统计学意义(P<0.01).不同住院时间患儿医院感染发生率比较差异有统计学意义(P<0.01).随体外循环时间延长,医院感染发生率增高,差异有统计学意义(P<0.01).常见的革兰阴性杆茵是肺炎克雷伯茵、铜绿假单胞茵、鲍曼不动杆茵、大肠埃希茵和嗜麦芽窄食单胞茵等;常见革兰阳性球菌是凝固酶阴性葡萄球菌、粪肠球菌、屎肠球菌和金黄色葡萄球茵等;真茵以白色假丝酵母茵为主.结论:先天性心脏病术后PICU医院感染发生率较高,不同感染部位病原茵分布有其自身特点.体外循环时间延长、住院时间延长可能会增加术后医院感染发生率.%Objective To investigate nosocomial infections in children with congenital heart disease after cardiac surgery in PICU. Methods The clinical data of 2 258 cases of congenital heart disease after cardiac surgery in PICU were retrospectively studied. The nosocomial infection rate, the position of infection, pathogens and the drug resistance were observed and statistically analyzed. Results Nosocomial infections occurred in 198 cases(8. 77%), in which there were 181 cases of ventilatorassociated pneumonia (8.02%), 10 cases of sepsis (0.44%) and 7 cases of vascular related infection (0.31%). The main pathogenic bacteria in

  1. Pregnancy in women with congenital heart disease

    NARCIS (Netherlands)

    Greutmann, Matthias; Pieper, Petronella G.

    2015-01-01

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

  2. Prenatal diagnosis of congenital complete heart block.

    Science.gov (United States)

    Costa, Patrícia; Carriço, Ana; Ramalho, Carla; Matias, Alexandra; Monterroso, José; Areias, José Carlos

    2007-06-01

    Congenital complete heart block (CHB) is a conduction defect with an incidence in the general population of 1/15,000 to 1/22,000 live births. It is frequently associated with structural heart defects or maternal autoimmune disease. We describe a case of CHB associated with maternal systemic lupus erythematosus and review our previous cases and experience of CHB.

  3. Neonatal lupus: clinical features and risk of congenital cardiac heart block in newborns from mothers with anti Ro/SSA antibodies

    Directory of Open Access Journals (Sweden)

    C. Biasini Rebaioli

    2011-09-01

    Full Text Available Objective: To assess the prevalence of Congenital Heart Block (CHB in newborns from anti Ro/SS-A antibodies positive mothers affected by connective tissue diseases (CTD and to evaluate the prevalence of other manifestations of Neonatal Lupus (NL and the electrocardiographic abnormalities. Methods: A prospective study was conducted on 100 anti Ro/SS-A positive mothers that were followed before and during their 118 pregnancies (4 twin pregnancies and 18 second pregnancies. Counterimmunoelectroforesis (CIE and immunoblot (IB were used to test antibodies to extractable nuclear antigens (ENA. Results: Only 2 cases of CHB (1.8% were found among the 112 living newborns. In one case the mother with primary Sjögren’s Syndrome (pSS was anti Ro 60 and 52kD positive while in the other case the mother affected by undifferentiated connective tissue disease (UCTD was anti Ro 60kD and anti La positive. No fetal death was due to CHB. There were no cutaneous rashes at birth while mild hepatic enzyme alterations were observed in 21 (68% of the 31 tested newborns. In 22 healthy newborns an ECG have been registered and in 4 cases (18.2% sinus bradycardia was found. During the follow up 7 suckling showed Cutaneous Neonatal Lupus. Moreover a six month girl developed Kawasaki Syndrome. Conclusions: The risk of delivering a child with CHB is 1.8% in anti Ro/SS-A positive mothers with CTD. This finding is extremely important in the preconceptional counseling of anti-Ro/SS-A positive women. Furthermore mild electrocardiographic abnormalities may be found in their healthy newborns.

  4. Second heart field cardiac progenitor cells in the early mouse embryo.

    Science.gov (United States)

    Francou, Alexandre; Saint-Michel, Edouard; Mesbah, Karim; Théveniau-Ruissy, Magali; Rana, M Sameer; Christoffels, Vincent M; Kelly, Robert G

    2013-04-01

    At the end of the first week of mouse gestation, cardiomyocyte differentiation initiates in the cardiac crescent to give rise to the linear heart tube. The heart tube subsequently elongates by addition of cardiac progenitor cells from adjacent pharyngeal mesoderm to the growing arterial and venous poles. These progenitor cells, termed the second heart field, originate in splanchnic mesoderm medial to cells of the cardiac crescent and are patterned into anterior and posterior domains adjacent to the arterial and venous poles of the heart, respectively. Perturbation of second heart field cell deployment results in a spectrum of congenital heart anomalies including conotruncal and atrial septal defects seen in human patients. Here, we briefly review current knowledge of how the properties of second heart field cells are controlled by a network of transcriptional regulators and intercellular signaling pathways. Focus will be on 1) the regulation of cardiac progenitor cell proliferation in pharyngeal mesoderm, 2) the control of progressive progenitor cell differentiation and 3) the patterning of cardiac progenitor cells in the dorsal pericardial wall. Coordination of these three processes in the early embryo drives progressive heart tube elongation during cardiac morphogenesis. This article is part of a Special Issue entitled: Cardiomyocyte Biology: Cardiac Pathways of Differentiation, Metabolism and Contraction.

  5. Epidemiology of Complex Congenital Heart Disease in Defective Stillbirth Fetus%复杂性先天性心脏病在非活产缺陷儿中的发生状况

    Institute of Scientific and Technical Information of China (English)

    欧艳秋; 刘小清; 麦劲壮; 韩凤珍; 陈寄梅; 潘微; 庄建

    2012-01-01

    Objective:To investigate the prevalence and diagnosis of complex congenital heart disease( CCHD )in defective stillbirth fetus. Methods : We retrospectively studied 14342 fetuses and new born babies in our hospital from 2005 to 2010,that including 249 cases of defective stillbirth. All diagnosis was confirmed by fetal echocardiography. The defective rate and the component ratio of CCHD in stillbirth fetuses were analyzed. Results:The total detective rate of CHD in all birth was 10. 95‰( 157/14342 ),the detective rate in defective stillbirth was 1. 74%( 249/14342 )and CCHD in defective stillbirth was 17. 27%( 43/249 ). The CCHD occurrence as complete atrioventricular septal defect in 52‰( 13/249 ) cases,double outlet of right ventricle in 36‰ cases( 9/249 ), single ventricle in 32‰ cases( 8/ 249 ) and great artery conversion in 24‰ cases( 6/249 ). 95. 35% parents of CCHD fetuses chose to terminate the pregnancy. The detective rate for CCHD was higher in female fetuses than that in male( 30. 38% vs. 14. 55% ,P = 0. 0086 ). The average diagnosis time for CCHD fetuses was( 26. 9±4. 9 )weeks of gestation,and 67. 44% of diagnosis was made between 20 ~ 30 weeks of gestation. Conclusion:There was a high detective rate for CCHD in defective stillbirth. Fetal echocardiography was an effective and helpful method for CCHD diagnosis in fetuses.%目的:了解复杂性先天性心脏病(CCHD)在非活产缺陷儿中的检出和诊断情况.方法:通过病历回顾的方法选取我院2005-01-01 至2010-12-31胎儿及新生儿14 342例,非活产缺陷儿249例.主要诊断手段为胎儿超声心动图.分析CCHD在非活产缺陷儿中的检出率及构成比例.结果:14 342例胎儿及新生儿的先天性心脏病总检出率为10.95‰(157例),非活产缺陷儿的249例(1.74%),CCHD 43例占非活产缺陷儿的17.27%.43例中CCHD的亚型比例分布依次是完全性房室间隔缺损52‰(13例);右心室双出口36‰(9例)、单心室32‰(8

  6. Bifid cardiac apex in a 25-year-old male with sudden cardiac death.

    Science.gov (United States)

    Wu, Annie; Kay, Deborah; Fishbein, Michael C

    2014-01-01

    Although a bifid cardiac apex is common in certain marine animals, it is an uncommon finding in humans. When present, bifid cardiac apex is usually associated with other congenital heart anomalies. We present a case of bifid cardiac apex that was an incidental finding in a 25-year-old male with sudden cardiac death from combined drug toxicity. On gross examination, there was a bifid cardiac apex with a 2-cm long cleft. There were no other significant gross or microscopic abnormalities. This case represents the very rare occurrence of a bifid cardiac apex as an isolated cardiac anomaly.

  7. The impact of gestational age on resource utilization after open heart surgery for congenital cardiac disease from birth to 1 year of age.

    Science.gov (United States)

    Bishop, Naomi B; Zhou, Theresa X; Chen, Jonathan M; Ward, Mary J; Carroll, Sheila J

    2013-03-01

    The impact of gestational age on perioperative morbidity was examined using a novel construct, the resource utilization index (RUI). The medical records of subjects from birth to 1 year of age entered into a pediatric cardiothoracic surgery database from a major academic medical center between 2007 and 2011 were reviewed. The hypothesis tested was that infants born at 37-38 weeks (early-term infants) experience greater resource utilization after open heart surgery than those born at 39 completed weeks and that this association can be observed until 1 year of age. The results support the premise that resource utilization increases linearly with declining gestational age among infants at 0-12 months who undergo cardiac surgery. Five of the six variables comprising the RUI showed statistically significant linear associations with gestational age in the predicted direction. Multivariate linear regression analysis showed that gestational age was a significant predictor of an increased RUI composite. Further investigation is needed to test the concept and to expand on these findings.

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

    Directory of Open Access Journals (Sweden)

    Qiushi Chen

    2015-10-01

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

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

    Directory of Open Access Journals (Sweden)

    S. V. Gautier

    2014-01-01

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

  10. Combination of congenital cleft lip and palate with congenital diaphragmatic hernia: a severe disease course

    Institute of Scientific and Technical Information of China (English)

    LI Yang; XIONG Wan-lin; SHI Bing

    2006-01-01

    @@ Congenital cleft lip and palate (CLP) is the most common birth defect now in China. The incidence is 1.62‰ according to the data (1988-1992) provided by the National Center for Birth Defects Monitoring.1 It is also one of the congenital anomalies that have excellent prognosis. But severe complications may occur in the cases accompanied some other deformities. Here we report a case of death caused by left-sided posterolateral congenital diaphragmatic hernia (CDH), type Bochdalek, after the cleft operation.

  11. [Congenital epulis].

    Science.gov (United States)

    Braga-Tavares, H; Santos, H; M-Pinto, I; Ramos, M; de Sousa, P

    2009-01-01

    Congenital epulis or gingival granular cell tumor is an uncommon benign tumor, usually diagnosed at birth as a pediculated maxilar gingival mass. Although some cases of spontaneous regression have been described, most of the lesions are surgically removed with excelent prognosis and cosmetic final result. The authors describe a case report as well as a short revision on this pathology.

  12. 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."

  13. Postprocedural Outcomes and Risk Factors for Arrhythmias Following Transcatheter Closure of Congenital Perimembranous Ventricular Septal Defect: A Single-center Retrospective Study

    Science.gov (United States)

    Zhao, Li-Jian; Han, Bo; Zhang, Jian-Jun; Yi, Ying-Chun; Jiang, Dian-Dong; Lyu, Jian-Li

    2017-01-01

    Background: Currently, transcatheter closure of perimembranous ventricular septal defect (pmVSD) is a widely accepted therapeutic modality. However, arrhythmias, especially postprocedural heart blocks, are a concern and outcomes are not very clear. This study explored the outcomes and risk factors of arrhythmias associated with transcatheter device closure of pmVSD. Methods: A total of 395 patients diagnosed with pmVSD who successfully underwent transcatheter intervention between January 2010 and December 2015 in our center were retrospectively reviewed. Electrocardiographic data before and after the procedure were collected and analyzed. We first evaluated the potential risk factors including gender, age, weight, inlet and outlet diameters of defect, subaortic rim length, occluder size, corrected occluder size into body surface area, fluoroscopy time, presence of aneurysm, and deployment position. We compared the potential risk factors between arrhythmia and nonarrhythmia groups using univariate analysis, followed by logistic analysis for independent risk factors. Results: Various arrhythmias were detected in 95 cases (24.1%) following transcatheter closure procedure. Logistic regression analysis revealed that eccentric (odds ratio [OR] 2.9, 95% confidence interval [CI]: 1.2–7.2) and large occluders (OR 2.0, 95% CI: 1.6–2.5), as well as long fluoroscopy time (OR 1.1, 95% CI: 1.1–1.2), were correlated with postprocedural arrhythmia. During 35.5 months (range: 9–80 months) of follow-up, most of the patients (74 out of 95) reverted to normal heart rhythm. Conclusions: The mid-term outcome of patients with arrhythmias after transcatheter closure of pmVSD was satisfactory as most of the patients recovered normal rhythm. Eccentric, large device and long fluoroscopy time increase the risk of arrhythmias after transcatheter closure of pmVSD. PMID:28229981

  14. Diabetes mellitus and birth defects

    Science.gov (United States)

    Correa, Adolfo; Gilboa, Suzanne M.; Besser, Lilah M.; Botto, Lorenzo D.; Moore, Cynthia A.; Hobbs, Charlotte A.; Cleves, Mario A.; Riehle-Colarusso, Tiffany J.; Waller, D. Kim; Reece, E. Albert

    2016-01-01

    OBJECTIVE The purpose of this study was to examine associations between diabetes mellitus and 39 birth defects. STUDY DESIGN This was a multicenter case-control study of mothers of infants who were born with (n = 13,030) and without (n = 4895) birth defects in the National Birth Defects Prevention Study (1997–2003). RESULTS Pregestational diabetes mellitus (PGDM) was associated significantly with noncardiac defects (isolated, 7/23 defects; multiples, 13/23 defects) and cardiac defects (isolated, 11/16 defects; multiples, 8/16 defects). Adjusted odds ratios for PGDM and all isolated and multiple defects were 3.17 (95% CI, 2.20–4.99) and 8.62 (95% CI, 5.27–14.10), respectively. Gestational diabetes mellitus (GDM) was associated with fewer noncardiac defects (isolated, 3/23 defects; multiples, 3/23 defects) and cardiac defects (isolated, 3/16 defects; multiples, 2/16 defects). Odds ratios between GDM and all isolated and multiple defects were 1.42 (95% CI, 1.17–1.73) and 1.50 (95% CI, 1.13–2.00), respectively. These associations were limited generally to offspring of women with prepregnancy body mass index ≥25 kg/m2. CONCLUSION PGDM was associated with a wide range of birth defects; GDM was associated with a limited group of birth defects. PMID:18674752

  15. Gerbode defect: Another nail for the 3D transesophagel echo hammer?

    Science.gov (United States)

    Taskesen, Tuncay; Prouse, Andrew Fred; Goldberg, Steven Lewis; Gill, Edward Allen

    2015-04-01

    Acquired type of LV to RA shunt (Gerbode defect) is rare form of intracardiac shunt which is due to complications of invasive cardiac procedures, endocarditis, trauma or myocardial infarction. Increasing invasive and recurrent cardiovascular procedures have led to more acquired cases of what used to be a predominant congenital heart defect. Advanced cardiac imaging techniques and awareness of this rare pathology may account for the increased number of case reports in the last two decades Advanced cardiac imaging tools such as cardiac CT, MRI and Real-time 3D echocardiography provide definitive diagnosis and anatomic characterization of the shunt. Real-time 3D echocardiography is an imaging technique with arguably the most advantages. It is not only a diagnostic tool; it has also become an integral part of percutaneous and surgical treatment. Although surgical repair is the usual treatment for this shunt, percutaneous catheter-based closure has seen significant success as a less invasive treatment in selected patients in the last decade. In summary, a beneficial side effect of the increasing frequency of acquired Gerbode defect has been the corresponding development of newer diagnostic tools and less invasive treatments. This article presents etiologic, diagnostic and treatment changes of acquired LV-RA shunts over the last two decades.

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

    Science.gov (United States)

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

    2016-04-26

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

  17. Folate rescues lithium-, homocysteine- and Wnt3A-induced vertebrate cardiac anomalies

    Science.gov (United States)

    Han, Mingda; Serrano, Maria C.; Lastra-Vicente, Rosana; Brinez, Pilar; Acharya, Ganesh; Huhta, James C.; Chen, Ren; Linask, Kersti K.

    2009-01-01

    SUMMARY Elevated plasma homocysteine (HCy), which results from folate (folic acid, FA) deficiency, and the mood-stabilizing drug lithium (Li) are both linked to the induction of human congenital heart and neural tube defects. We demonstrated previously that acute administration of Li to pregnant mice on embryonic day (E)6.75 induced cardiac valve defects by potentiating Wnt–β-catenin signaling. We hypothesized that HCy may similarly induce cardiac defects during gastrulation by targeting the Wnt–β-catenin pathway. Because dietary FA supplementation protects from neural tube defects, we sought to determine whether FA also protects the embryonic heart from Li- or HCy-induced birth defects and whether the protection occurs by impacting Wnt signaling. Maternal elevation of HCy or Li on E6.75 induced defective heart and placental function on E15.5, as identified non-invasively using echocardiography. This functional analysis of HCy-exposed mouse hearts revealed defects in tricuspid and semilunar valves, together with altered myocardial thickness. A smaller embryo and placental size was observed in the treated groups. FA supplementation ameliorates the observed developmental errors in the Li- or HCy-exposed mouse embryos and normalized heart function. Molecular analysis of gene expression within the avian cardiogenic crescent determined that Li, HCy or Wnt3A suppress Wnt-modulated Hex (also known as Hhex) and Islet-1 (also known as Isl1) expression, and that FA protects from the gene misexpression that is induced by all three factors. Furthermore, myoinositol with FA synergistically enhances the protective effect. Although the specific molecular epigenetic control mechanisms remain to be defined, it appears that Li or HCy induction and FA protection of cardiac defects involve intimate control of the canonical Wnt pathway at a crucial time preceding, and during, early heart organogenesis. PMID:19638421

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

    Science.gov (United States)

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

    2016-03-01

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

  19. TOGETHER WiTH ATRiAL SEPTAL DEFECT, BiCUSPiD AORTA, PECTUS EXCAVATUM AND MENTAL RETARDATiON : A CASE REPORT

    Directory of Open Access Journals (Sweden)

    Mustafa Necati Dagli

    2015-03-01

    Full Text Available In this case, patient with mental retardation accepted in our clinic complain with shortness of breath. Then physical examination inspection evident in the pectus excavatum and made Echocardiography Atrial septal defect (ASD and bicuspid aortic consistent with the view were identified.Congenital abnormalities in patients with the aim of further evaluation of transesophageal echocardiography (TEE planned. In TEE, 26 mm secundum atrial septal defect, bicuspid aortic valve was detected. Percutaneous transcatheter atrial septal defect closure with septal occluder device. Pectus excavatum, such as mental retardation or even cardiac abnormalities do not complain about aspects of the research must be done. Cardiac abnormalities regardless of the direction of the association needs to be done to show that we have a rigorous screening. [J Contemp Med 2015; 5(1.000: 48-50

  20. Cardiac and non-cardiac malformations produced by Mercury in hamsters. [None

    Energy Technology Data Exchange (ETDEWEB)

    Gale, T.F.

    1980-11-01

    The susceptibility of the developing mammalian embryo to the adverse effects of mercury is well documented. A variety of organic mercury compounds have been demonstrated to produce embryotoxic effects in experimental animals. HARADA recently summarized the reports of human intrauterine methylmercury poisoning, i.e., congenital Minamata disease, resulting from the ingestion of contaminated food. Ongoing studies in this laboratory have involved several different aspects of the embryotoxicity produced by inorganic mercury in hamsters including a dose response study, the interaction of mercuric acetate with cadmium and zinc, the effect of different routes of administration, the placental permeability of /sup 203/Hg and the embryotoxic response in several different hamster strains. Little is known regarding a human syndrome of congenital malformations characterized by ectopia cordis, internal cardiac defects and abnormalities of the diaphragm and ventral body wall. Most papers regarding this human syndrome are clinical reports describing the characteristics and management of specific cases; only speculative information is provided regarding etiology and possible embryopathic mechanisms. The observation that a similar syndrome, which will be designated CNC for cardiac and non-cardiac malformations, can be produced by mercury in hamsters prompted the present study. The specific goals of this study were 1) to study the effect of treating pregnant hamsters at different times during embryonic organogenesis to determine the time which produces the highest incidence of the CNC syndrome and whether different treatment times modify the morphological characteristics of the inclusive malformations and 2) to study the structural features of all mercury-induced external and internal abnormalities of the CNC syndrome in late gestation fetuses.

  1. Pulmonary arterial hypertension associated with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Michele D'Alto

    2012-12-01

    Full Text Available Pulmonary arterial hypertension (PAH is a common complication of congenital heart disease (CHD, with most cases occurring in patients with congenital cardiac shunts. In patients with an uncorrected left-to-right shunt, increased pulmonary pressure leads to vascular remodelling and dysfunction, resulting in a progressive rise in pulmonary vascular resistance and increased pressures in the right heart. Eventually, reversal of the shunt may arise, with the development of Eisenmenger's syndrome, the most advanced form of PAH-CHD. The prevalence of PAH-CHD has fallen in developed countries over recent years and the number of patients surviving into adulthood has increased markedly. Today, the majority of PAH-CHD patients seen in clinical practice are adults, and many of these individuals have complex disease or received a late diagnosis of their defect. While there have been advances in the management and therapy in recent years, PAH-CHD is a heterogeneous condition and some subgroups, such as those with Down's syndrome, present particular challenges. This article gives an overview of the demographics, pathophysiology and treatment of PAH-CHD and focuses on individuals with Down's syndrome as an important and challenging patient group.

  2. 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.

  3. Congenital Thrombocytopenia

    Institute of Scientific and Technical Information of China (English)

    王兆钺

    2011-01-01

    @@ Platelets are essential for normal hemostasis.Platelets adhere to damaged blood vessels, and then aggregate and promote activation of coagulation factors, resulting to ceasing bleeding.Both quantitative and qualitative abnormalities of platelets can cause bleeding problems.Among them, immune thrombocytopenias are the most common conditions.However, congenital thrombocytopenias are often neglected because of their relative rarity and complex laboratory tests.That causes misdiagnosis and unnecessary and potentially harmful treatments for many patients.

  4. [Congenital ranula].

    Science.gov (United States)

    Marques, Maria Inês; Morais, Sofia; Coutinho, Sílvia; de Castro, Ochoa; Rei, Ana Isabel

    2010-01-01

    The authors describe a case of congenital ranula diagnosed by a routine prenatal ultrasonography at 21 weeks of gestation. The fetal kariotype was normal. Follow-up ultrasound scans revealed no changes in the size or the position of the cyst. Fetal growth was normal as was the amniotic fluid volume. Surgical treatment was performed 3 days after a normal vaginal delivery, with excellent results.

  5. Supravalvular aortic stenosis with sudden cardiac death

    Directory of Open Access Journals (Sweden)

    Pradeep Vaideeswar

    2015-01-01

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

  6. Correlation analysis about folate metabolism-related genes of pregnant women with fetal congenital defects%孕妇叶酸代谢相关基因与胎儿先天缺陷的相关性研究

    Institute of Scientific and Technical Information of China (English)

    肖鸽飞; 孟小军; 胡玲玲; 邓海云; 赵艳玲; 吴洪秋

    2016-01-01

    Objective To investigate the relationship between folate metabolism-related gene polymorphism and fetal congenital defects,and discuss the effect of genetic factors on fetal congenital defects.Methods Retrospective analysis was used to investigate the genotype and gene frequency of 5,1O-methylenetetrahydrofolate reductase (MTHFR) C677T,A1298C gene loci and ethionine synthase reductase (MTRR) A66G gene locus in 132 cases of adverse pregnancy pregnant women (case group) and 150 cases normal pregnant women (control group) at the same period.The statistical differences were analyzed between the levels of their serum folate,vitamin B12 (Vit B12) and homocysteine (HCY).Results In the serum of case group,folate was positively correlated with Vit B12,and was negatively correlated with HCY,only HCY of skeletal system defects(6 cases) was higher (t =3.409,P < 0.05).Comparing genotypes frequency of the MTHFR C677T,A1298C gene loci and MTRR A66G gene locus in case group with control group,the difference above was not statistically significant (P > 0.05).In these three gene loci C/T,A/C and A/G allele frequency with the control group,the difference above was not statistically significant (all P > 0.05).Different genotype combinations of MTHFR C667T and A1298C gene loci in control groups had no statistically different from the control group (P > 0.05),and there was no synergy.Conclusions Maternal folate metabolism-related MTHFR and MTRR genes polymorphisms can affect the metabolic products levels accordingly.However,the correlation between the changes and the genetic mechanism of fetal congenital defects needs more large samples study in depth.%目的 分析叶酸代谢相关基因的多态性与胎儿先天缺陷的相互关系,探讨遗传性因素对胎儿先天缺陷的影响.方法 回顾性分析132例不良妊娠孕妇(病例组)及同期就诊的150例正常妊娠孕妇(对照组)5,10-亚甲基四氢叶酸还原酶(MTHFR)基因的C677T、A1298C位点和甲硫氨

  7. Congenital extrahepatic portosystemic shunts

    Energy Technology Data Exchange (ETDEWEB)

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

    2003-09-01

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

  8. Metabonomics of acute kidney injury in children after cardiac surgery.

    Science.gov (United States)

    Beger, Richard D; Holland, Ricky D; Sun, Jinchun; Schnackenberg, Laura K; Moore, Page C; Dent, Catherine L; Devarajan, Prasad; Portilla, Didier

    2008-06-01

    Acute kidney injury (AKI) is a major complication in children who undergo cardiopulmonary bypass surgery. We performed metabonomic analyses of urine samples obtained from 40 children that underwent cardiac surgery for correction of congenital cardiac defects. Serial urine samples were obtained from each patient prior to surgery and at 4 h and 12 h after surgery. AKI, defined as a 50% or greater rise in baseline level of serum creatinine, was noted in 21 children at 48-72 h after cardiac surgery. The principal component analysis of liquid chromatography/mass spectrometry (LC/MS) negative ionization data of the urine samples obtained 4 h and 12 h after surgery from patients who develop AKI clustered away from patients who did not develop AKI. The LC/MS peak with mass-to-charge ratio (m/z) 261.01 and retention time (tR) 4.92 min was further analyzed by tandem mass spectrometry (MS/MS) and identified as homovanillic acid sulfate (HVA-SO4), a dopamine metabolite. By MS single-reaction monitoring, the sensitivity was 0.90 and specificity was 0.95 for a cut-off value of 24 ng/microl for HVA-SO4 at 12 h after surgery. We concluded that urinary HVA-SO4 represents a novel, sensitive, and predictive early biomarker of AKI after pediatric cardiac surgery.

  9. Right congenital pleuro-peritoneal hiatus hernia

    Directory of Open Access Journals (Sweden)

    Sankar DK

    2009-12-01

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

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

    Science.gov (United States)

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

    2012-11-13

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

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

    Energy Technology Data Exchange (ETDEWEB)

    Manganaro, L. [Department of Radiological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy); Savelli, S. [Department of Radiological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy)], E-mail: sarasavelli@hotmail.it; Di Maurizio, M.; Perrone, A.; Francioso, A.; La Barbera, L.; Totaro, P.; Fierro, F.; Tomei, A.; Coratella, F. [Department of Radiological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy); Giancotti, A. [Department of Gynaecological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy); Ballesio, L. [Department of Radiological Sciences, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy); Ventriglia, F. [Department of Pediatric Cardiology, UMBERTO I Hospital, SAPIENZA University of Rome, Viale del Policlinico 155, 00161 Rome (Italy)

    2009-10-15

    Purpose: To review our experience with fetal magnetic resonance imaging (MRI) to evaluate congenital heart disease (CHD). Methods: We performed fetal MRI in 32 fetuses with an echocardiographically assessed CHD. Both direct and indirect signs of CHD were investigated. Direct signs considered were: morpho-volumetric abnormalities of the heart; malrotations; ventricular and atrial septal defects; anomalies of the origin, size and course of the great arteries. Indirect signs considered were: difficulty to recognize a 'normal' anatomical structures in the reference projections; increase of the vascular size before a stenosis; hypertrophy of the papillary muscles; cardiomegaly and pericardial effusion. All MRI findings were compared with postnatal or autoptic findings. Results: MRI allowed the CHD to be visualised by direct signs in 17 fetuses, indirect signs in 5 and both direct and indirect signs in 9 fetuses, excluding the prenatal echocardiographic suspect of hypoplastic left heart syndrome in 1 fetus. Postnatal echocardiograms or autoptic findings confirmed a normal heart in 1 fetus and CHD in 31 fetuses including a single cardiac anomaly or syndrome in 19 fetuses, 2 associated cardiac abnormalities in 11 and 3 cardiac anomalies in 1 fetus. However, in 2 fetuses MRI detected a ventricular septal defect successively disclosed by gold standard. Conclusions: MRI is a promising method for further assessment of the cardiovascular pathologies diagnosed by echocardiography, and may be a valuable tool in assessing associated extracardiac anomalies.

  12. Intestinal atresia, encephalocele, and cardiac malformations in infants with 47,XXX: Expansion of the phenotypic spectrum and a review of the literature.

    Science.gov (United States)

    Bağci, Soyhan; Müller, Andreas; Franz, Axel; Heydweiller, Andreas; Berg, Christoph; Nöthen, Markus M; Bartmann, Peter; Reutter, Heiko

    2010-01-01

    Identification of the 47,XXX karyotype often occurs adventitiously during prenatal fetal karyotyping in cases of advanced maternal age. Although most females with 47,XXX appear healthy at birth, various types of congenital malformations have been reported, of which urinary tract anomalies are the most frequent. We report on 2 newborns with 47,XXX and congenital cardiac defects, one of whom had duodenal atresia and the other an occipital encephalocele. This expands the spectrum of malformations reported in association with the triple-X syndrome. We also presen