WorldWideScience

Sample records for congenital cardiac abnormalities

  1. Congenital Abnormalities

    Science.gov (United States)

    ... tube defects. However, there is also a genetic influence to this type of congenital anomaly. Unknown Causes The vast majority of congenital abnormalities have no known cause. This is particularly troubling for parents who plan to have more children, because there is no way to predict if ...

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

    International Nuclear Information System (INIS)

    Erol, Cengiz; Koplay, Mustafa; Olcay, Ayhan; Kivrak, Ali Sami; Ozbek, Seda; Seker, Mehmet; Paksoy, Yahya

    2012-01-01

    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.

  3. Nitrofurantoin and congenital abnormalities

    DEFF Research Database (Denmark)

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

    2001-01-01

    or fetuses with Down’s syndrome (patient controls), 23 (2.8%) pregnant women were treated with nitrofurantoin. The above differences between population controls and cases may be connected with recall bias, because the case-control pair analysis did not indicate a teratogenic potential of nitrofurantoin use......Objective: To study human teratogenic potential of oral nitrofurantoin treatment during pregnancy. Materials and Methods: Pair analysis of cases with congenital abnormalities and matched population controls in the population-based dataset of the Hungarian Case-Control Surveillance of Congenital...... during the second and the third months of gestation, i.e. in the critical period for major congenital abnormalities. Conclusion: Treatment with nitrofurantoin during pregnancy does not present detectable teratogenic risk to the fetus....

  4. [Penile congenital abnormalities].

    Science.gov (United States)

    Boillot, B; Teklali, Y; Moog, R; Droupy, S

    2013-07-01

    Congenital abnormalities of the penis are usually diagnosed at birth and pose aesthetic and functional problems sometimes requiring surgical management. A literature review was conducted on Medline considering the articles listed until January 2012. Hypospadias is the most common malformation (1 in 250 boys. Familial forms: 7%). The causes remain hypothetical but the doubling of the incidence in 30 years could be linked to fetal exposure to endocrine disruptors "estrogen-like" used in the food industry in particular. Surgical treatment is usually intended to improve the aesthetic appearance but sometimes, in case of significant curvature or posterior meatus, necessary for normal sexual life and fertility. Other malformations (epispades, buried penis, transpositions, twists and preputial abnormalities) as well as management for functional or aesthetic consequences of these malformations in adulthood require complex surgical care in a specialized environment. The improvement of surgical techniques and pediatric anesthesia allows an early and effective specialized surgical approach of penile malformations. Management of sequelae in adulthood must be discussed and requires experience of surgical techniques on pediatric and adult penis. Copyright © 2013 Elsevier Masson SAS. All rights reserved.

  5. Congenital abnormalities associated with hemivertebrae in relation to hemivertebrae location.

    Science.gov (United States)

    Bollini, Gerard; Launay, Franck; Docquier, Pierre-Louis; Viehweger, Elke; Jouve, Jean-Luc

    2010-01-01

    Numerous congenital abnormalities have been reported in association with hemivertebrae (HV). No data exist about their incidence depending on the location of the HV. From 1980 to 2003, 75 patients with 80 HV responsible for evolutive congenital scoliosis were managed by HV resection using a double approach and short anterior and posterior convex fusion. The associated abnormalities were evaluated with MRI, echocardiography and renal ultrasound. Associated genitourinary abnormalities were found in 24% of patients, cardiac abnormalities in 8% and intrathecal abnormalities in 15%. Medullar abnormalities were more frequent in case of vertebral malformations at lumbosacral level.

  6. Ictal Cardiac Ryhthym Abnormalities.

    Science.gov (United States)

    Ali, Rushna

    2016-01-01

    Cardiac rhythm abnormalities in the context of epilepsy are a well-known phenomenon. However, they are under-recognized and often missed. The pathophysiology of these events is unclear. Bradycardia and asystole are preceded by seizure onset suggesting ictal propagation into the cortex impacting cardiac autonomic function, and the insula and amygdala being possible culprits. Sudden unexpected death in epilepsy (SUDEP) refers to the unanticipated death of a patient with epilepsy not related to status epilepticus, trauma, drowning, or suicide. Frequent refractory generalized tonic-clonic seizures, anti-epileptic polytherapy, and prolonged duration of epilepsy are some of the commonly identified risk factors for SUDEP. However, the most consistent risk factor out of these is an increased frequency of generalized tonic-clonic seizures (GTC). Prevention of SUDEP is extremely important in patients with chronic, generalized epilepsy. Since increased frequency of GTCS is the most consistently reported risk factor for SUDEP, effective seizure control is the most important preventive strategy.

  7. Fetal chromosome abnormalities and congenital malformations: an ...

    African Journals Online (AJOL)

    The results also showed that Multiple congenital anomalies (MCA) represented among 42.2%, congenital malformation of CNS represents 26.6%, congenital malformation of the skeletal system 20%, congenital polycystic kidney 8.8% and pyloric stenosis in 2.2%. Among the 21 women with abnormal karyotype of amniotic ...

  8. Extra-cardiac manifestations of adult congenital heart disease.

    Science.gov (United States)

    Gaeta, Stephen A; Ward, Cary; Krasuski, Richard A

    2016-10-01

    Advancement in correction or palliation of congenital cardiac lesions has greatly improved the lifespan of congenital heart disease patients, resulting in a rapidly growing adult congenital heart disease (ACHD) population. As this group has increased in number and age, emerging science has highlighted the systemic nature of ACHD. Providers caring for these patients are tasked with long-term management of multiple neurologic, pulmonary, hepatic, renal, and endocrine manifestations that arise as syndromic associations with congenital heart defects or as sequelae of primary structural or hemodynamic abnormalities. In this review, we outline the current understanding and recent research into these extra-cardiac manifestations. Copyright © 2016 Elsevier Inc. All rights reserved.

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

    International Nuclear Information System (INIS)

    Goo, Hyun Woo

    2011-01-01

    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.)

  10. Lentiginosis, Deafness and Cardiac Abnormalities*

    African Journals Online (AJOL)

    1973-01-06

    Jan 6, 1973 ... His height. mass. intelligence and genitalia were normal. The aSSOCiatIOn between deafness and disturbance of cardiac conduction and between pigmented skin lesions and cardiac abnormalities, has been well described. Should. ~I patient present with multiple lentigines and/or familial sensineural ...

  11. [Congenital abnormalities of the aorta in children and adolescents].

    Science.gov (United States)

    Eichhorn, J G; Ley, S

    2007-11-01

    Aortic abnormalities are common cardiovascular malformations accounting for 15-20% of all congenital heart disease. Ultrafast CT and MR imaging are noninvasive, accurate and robust techniques that can be used in the diagnosis of aortic malformations. While their sensitivity in detecting vascular abnormalities seems to be as good as that of conventional catheter angiocardiography, at over 90%, they are superior in the diagnosis of potentially life-threatening complications, such as tracheal, bronchial, or esophageal compression. It has been shown that more than 80% of small children with aortic abnormalities benefit directly from the use of noninvasive imaging: either cardiac catheterization is no longer necessary or radiation doses and periods of general anesthesia for interventional catheterization procedures can be much reduced. The most important congenital abnormalities of the aorta in children and adolescents are presented with reference to examples, and the value of CT and MR angiography is documented.

  12. Cardiac abnormalities after subarachnoid hemorrhage

    NARCIS (Netherlands)

    Bilt, I.A.C. van der

    2016-01-01

    Aneurysmal subarachnoid hemorrhage(aSAH) is a devastating neurological disease. During the course of the aSAH several neurological and medical complications may occur. Cardiac abnormalities after aSAH are observed often and resemble stress cardiomyopathy or Tako-tsubo cardiomyopathy(Broken Heart

  13. Renal abnormalities in congenital chloride diarrhea

    International Nuclear Information System (INIS)

    Al-Hamad, Nadia M.; Al-Eisa, Amal A.

    2004-01-01

    Congenital chloride diarrhea CLD is a rare autosomal recessive disorder caused by a defect in the chloride/ bicarbonate exchange in the ileum and colon. It is characterized by watery diarrhea, abdominal distension, hypochloremic hypokalemic metabolic alkalosis with high fecal content of chloride >90 mmol/l. We report 3 patients with CLD associated with various renal abnormalities including chronic renal failure secondary to renal hypoplasia, nephrocalcinosis and congenital nephrotic syndrome. (author)

  14. DNA methylation abnormalities in congenital heart disease.

    Science.gov (United States)

    Serra-Juhé, Clara; Cuscó, Ivon; Homs, Aïda; Flores, Raquel; Torán, Núria; Pérez-Jurado, Luis A

    2015-01-01

    Congenital heart defects represent the most common malformation at birth, occurring also in ∼50% of individuals with Down syndrome. Congenital heart defects are thought to have multifactorial etiology, but the main causes are largely unknown. We have explored the global methylation profile of fetal heart DNA in comparison to blood DNA from control subjects: an absolute correlation with the type of tissue was detected. Pathway analysis revealed a significant enrichment of differential methylation at genes related to muscle contraction and cardiomyopathies in the developing heart DNA. We have also searched for abnormal methylation profiles on developing heart-tissue DNA of syndromic and non-syndromic congenital heart defects. On average, 3 regions with aberrant methylation were detected per sample and 18 regions were found differentially methylated between groups. Several epimutations were detected in candidate genes involved in growth regulation, apoptosis and folate pathway. A likely pathogenic hypermethylation of several intragenic sites at the MSX1 gene, involved in outflow tract morphogenesis, was found in a fetus with isolated heart malformation. In addition, hypermethylation of the GATA4 gene was present in fetuses with Down syndrome with or without congenital heart defects, as well as in fetuses with isolated heart malformations. Expression deregulation of the abnormally methylated genes was detected. Our data indicate that epigenetic alterations of relevant genes are present in developing heart DNA in fetuses with both isolated and syndromic heart malformations. These epimutations likely contribute to the pathogenesis of the malformation by cis-acting effects on gene expression.

  15. Tumor disease and associated congenital abnormalities on prenatal MRI

    International Nuclear Information System (INIS)

    Nemec, Stefan F.; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C.; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L.; Graham, John M. Jr.; Prayer, Daniela

    2012-01-01

    Objective: Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. Materials and methods: This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. Results: There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head–neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Conclusion: Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases.

  16. Tumor disease and associated congenital abnormalities on prenatal MRI.

    Science.gov (United States)

    Nemec, Stefan F; Horcher, Ernst; Kasprian, Gregor; Brugger, Peter C; Bettelheim, Dieter; Amann, Gabriele; Nemec, Ursula; Rotmensch, Siegfried; Rimoin, David L; Graham, John M; Prayer, Daniela

    2012-02-01

    Fetal tumors can have a devastating effect on the fetus, and may occur in association with congenital malformations. In view of the increasing role of fetal magnetic resonance imaging (MRI) as an adjunct to prenatal ultrasonography (US), we sought to demonstrate the visualization of fetal tumors, with regard to congenital abnormalities, on MRI. This retrospective study included 18 fetuses with tumors depicted on fetal MRI after suspicious US findings. An MRI standard protocol was used to diagnose tumors judged as benign or malignant. All organ systems were assessed for tumor-related complications and other congenital malformations. Available US results and histopathology were compared with MRI. There were 13/18 (72.2%) benign and 5/18 (27.8%) malignant tumors diagnosed: a cerebral primitive neuroectodermal tumor in 1/18, head-neck teratomas in 4/18; ventricular rhabdomyomas in 4/18; a cardiac teratoma in 1/18; a hepatoblastoma in 1/18; neuroblastomas in 2/18; a cystic hemorrhagic adrenal hyperplasia in 1/18; a pelvic leiomyoma in 1/18; sacrococcygeal teratomas in 3/18. Tumor-related complications were present in 13/18 (72.2%) cases; other congenital abnormalities in 3/18 (16.7%). MRI diagnosis and histology were concordant in 8/11 (72.7%) cases. In 6/12 (50%) cases, US and MRI diagnoses were concordant, and, in 6/12 (50%) cases, additional MRI findings changed the US diagnosis. Our MRI results demonstrate the visualization of fetal tumors, with frequently encountered tumor-related complications, and other exceptional congenital abnormalities, which may provide important information for perinatal management. Compared to prenatal US, MRI may add important findings in certain cases. Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.

  17. Congenital abnormalities of the posterior fossa.

    Science.gov (United States)

    Bosemani, Thangamadhan; Orman, Gunes; Boltshauser, Eugen; Tekes, Aylin; Huisman, Thierry A G M; Poretti, Andrea

    2015-01-01

    The frequency and importance of the evaluation of the posterior fossa have increased significantly over the past 20 years owing to advances in neuroimaging. Nowadays, conventional and advanced neuroimaging techniques allow detailed evaluation of the complex anatomic structures within the posterior fossa. A wide spectrum of congenital abnormalities has been demonstrated, including malformations (anomalies due to an alteration of the primary developmental program caused by a genetic defect) and disruptions (anomalies due to the breakdown of a structure that had a normal developmental potential). Familiarity with the spectrum of congenital posterior fossa anomalies and their well-defined diagnostic criteria is crucial for optimal therapy, an accurate prognosis, and correct genetic counseling. The authors discuss the spectrum of posterior fossa malformations and disruptions, with emphasis on neuroimaging findings (including diagnostic criteria), neurologic presentation, systemic involvement, prognosis, and risk of recurrence. RSNA, 2015

  18. 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.)

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

    International Nuclear Information System (INIS)

    Dong, Su-Zhen; Zhu, Ming

    2015-01-01

    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.)

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2014-09-15

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

  1. Cardiac abnormality prediction using HMLP network

    Science.gov (United States)

    Adnan, Ja'afar; Ahmad, K. A.; Mat, Muhamad Hadzren; Rizman, Zairi Ismael; Ahmad, Shahril

    2018-02-01

    Cardiac abnormality often occurs regardless of gender, age and races but depends on the lifestyle. This problem sometimes does not show any symptoms and usually detected once it already critical which lead to a sudden death to the patient. Basically, cardiac abnormality is the irregular electrical signal that generate by the pacemaker of the heart. This paper attempts to develop a program that can detect cardiac abnormality activity through implementation of Hybrid Multilayer Perceptron (HMLP) network. A certain amount of data of the heartbeat signals from the electrocardiogram (ECG) will be used in this project to train the MLP and HMLP network by using Modified Recursive Prediction Error (MRPE) algorithm and to test the network performance.

  2. Incidence of Congenital Spinal Abnormalities Among Pediatric Patients and Their Association With Scoliosis and Systemic Anomalies.

    Science.gov (United States)

    Passias, Peter G; Poorman, Gregory W; Jalai, Cyrus M; Diebo, Bassel G; Vira, Shaleen; Horn, Samantha R; Baker, Joseph F; Shenoy, Kartik; Hasan, Saqib; Buza, John; Bronson, Wesley; Paul, Justin C; Kaye, Ian; Foster, Norah A; Cassilly, Ryan T; Oren, Jonathan H; Moskovich, Ronald; Line, Breton; Oh, Cheongeun; Bess, Shay; LaFage, Virginie; Errico, Thomas J

    2017-10-09

    Congenital abnormalities when present, according to VACTERL theory, occur nonrandomly with other congenital anomalies. This study estimates the prevalence of congenital spinal anomalies, and their concurrence with other systemic anomalies. A retrospective cohort analysis on Health care Cost and Utilization Project's Kids Inpatient Database (KID), years 2000, 2003, 2006, 2009 was performed. ICD-9 coding identified congenital anomalies of the spine and other body systems. Overall incidence of congenital spinal abnormalities in pediatric patients, and the concurrence of spinal anomaly diagnoses with other organ system anomalies. Frequencies of congenital spine anomalies were estimated using KID hospital-and-year-adjusted weights. Poisson distribution in contingency tables tabulated concurrence of other congenital anomalies, grouped by body system. Of 12,039,432 patients, rates per 100,000 cases were: 9.1 hemivertebra, 4.3 Klippel-Fiel, 56.3 Chiari malformation, 52.6 tethered cord, 83.4 spina bifida, 1.2 absence of vertebra, and 6.2 diastematomyelia. Diastematomyelia had the highest concurrence of other anomalies: 70.1% of diastematomyelia patients had at least one other congenital anomaly. Next, 63.2% of hemivertebra, and 35.2% of Klippel-Fiel patients had concurrent anomalies. Of the other systems deformities cooccuring, cardiac system had the highest concurrent incidence (6.5% overall). In light of VACTERL's definition of a patient being diagnosed with at least 3 VACTERL anomalies, hemivertebra patients had the highest cooccurrence of ≥3 anomalies (31.3%). With detailed analysis of hemivertebra patients, secundum ASD (14.49%), atresia of large intestine (10.2%), renal agenesis (7.43%) frequently cooccured. Congenital abnormalities of the spine are associated with serious systemic anomalies that may have delayed presentations. These patients continue to be at a very high, and maybe higher than previously thought, risk for comorbidities that can cause devastating

  3. Congenital abnormalities in newborns of consanguineous and nonconsanguineous parents.

    Science.gov (United States)

    Naderi, S

    1979-02-01

    The aim of this study was to determine the types, patterns, and frequencies of congenital anomalies among newborns of both consanguineous and nonconsanguineous parents in southern Iran. From 9526 consecutive pregnancies observed, 9623 newborns resulted (9431 singleton and 95 sets of multiple gestation). There were 7261 newborns from nonconsanguineous parents and 2362 (24.5%) babies from consanguineous marriages. Of the total pregnancies, 1.54% resulted in malformed children (1.53% of singleton and 2.1% of multiple gestations). The incidence of congenital abnormalities in newborns of nonconsanguineous parents was 1.66% as compared to 4.02% for newborns of the consanguineous group. Major and multiple malformations were found to be slightly more common in the consanguinous group. Prematurity, prenatal mortality rate, and congenital abnormalities were more common in the consanguineous group. Probably the closer the familial relationship of the parents, the greater the chances of congenital abnormalities.

  4. Incidence of legal abortions and congenital abnormalities in Hungary

    International Nuclear Information System (INIS)

    Czeizel, A.E.

    1991-01-01

    The annual and monthly distributions of congenital abnormalities and pregnancy outcomes as confounding factors were evaluated in Hungary in reflection of the accident at the Chernobyl reactor. The different congenital abnormality entities and the components of fetal radiation syndrome did not show a higher rate after the Chernobyl accident in the data-set of the Hungarian Congenital Abnormality Registry. Among confounding factors, the rate of induced abortions did not increase after the Chernobyl accident in Hungary. In the 9th month after the peak of public concern (May and June, 1986) the rate of livebirths decreased. Three indicator conditions: 15 sentinel anomalies as indicators of germinal dominant gene mutations, Down syndrome as an indicator of germinal numerical and structural chromosomal mutations, and unidentified multiple congenital abnormalities as indicators of germinal dominant gene and chromosomal mutations were selected from the material of the Hungarian Congenital Abnormality Registry. Diagnoses were checked, familial and sporadic cases were separated and only the sporadic cases were evaluated. The analysis of indicator conditions did not reveal any measurable germinal mutagenic effect of the Chernobyl accident in Hungary

  5. Skeletal changes in congenital fibrinogen abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Lagier, R.; Bouvier, C.A.; van Strijthem, N.

    1980-01-01

    We report anatomico-radiologic study of humerus, femur, and tibia from a case of total congenital afibrinogenemia. Juxtatrabecular hemorrhages occur mainly in metaphyses and seem to be related to normal lines of stress. They may lead to the formation of intraosseous cysts and to a remodelling of bone trabeculae. The radiologic lesions in a second case, diagnosed as congenital dysfibrinogenemia, are similar to those found in Case 1 (femoral trabeculae remodelling) but also resemble some alterations described in hemophilia (pseudotumor of the right iliac bone). Anatomic study of the lesions in Case 2 was not possible. The significance of these observations could be better defined by a more extended skeletal study (radiologic and when feasible anatomic) of patients with congenital clotting defects and especially with inherited disorders of the fibrinogen molecule. It would also be worthwhile investigating manifest or latent hemostatic disorders (particularly at the fibrinogen level) in patients with solitary or aneurysmal bone cysts, and even with bone infarct or unexplained trabecular remodelling.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-06-01

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

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

    International Nuclear Information System (INIS)

    Kreitner, Karl-Friedrich; Sorantin, Erich

    2015-01-01

    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.

  8. Augmentin treatment during pregnancy and the prevalence of congenital abnormalities

    DEFF Research Database (Denmark)

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

    2001-01-01

    Objective: To study the human teratogenic potential of augmentin (amoxicillin+clavulanic acid) treatment during pregnancy. Materials and methods: Pair analysis of cases with different congenital abnormalities and their matched controls in the population-based dataset of the Hungarian Case-Control...

  9. Congenital and Neurological Abnormalities in Infants with Phenylketonuria

    Science.gov (United States)

    Johnson, Charles F.; And Others

    1978-01-01

    Examined was the occurrence of congenital and neurological abnormalities in 150 children with phenylketonuria (PKU--a metabolic disorder which may result in mental retardation) age 1 year or older, who have been treated with a restricted phenylalanine diet, according to the protocol used in a nation-wide longitudinal collaborative study.…

  10. 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.

  11. Cerebral glucose metabolic abnormality in patients with congenital scoliosis

    International Nuclear Information System (INIS)

    Nam, H. Y.; Seo, G. T.; Lee, J. S.; Kim, S. C.; Kim, I. J.; Kim, Y. K.; Jeon, S. M.

    2007-01-01

    A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with adolescent idiopathic scoliosis. The mean mini-mental status exam score in the congenital scoliosis group was significantly lower than that in the adolescent idiopathic scoliosis group. Group analysis found that various brain areas of patients with congenital scoliosis showed glucose hypometabolisms in the left prefrontal cortex (Brodmann area 10), right orbitofrontal cortex (Brodmann area 11), left dorsolateral prefrontal cortex (Brodmann area 9), left anterior cingulate gyrus (Brodmann area 24) and pulvinar of the left thalamus. From this study, we could find the metabolic abnormalities of brain in patients with congenital scoliosis and suggest the possible role of voxel-based analysis of brain fluorodeoxyglucose positron emission tomography

  12. Cerebral glucose metabolic abnormality in patients with congenital scoliosis

    Energy Technology Data Exchange (ETDEWEB)

    Nam, H. Y.; Seo, G. T.; Lee, J. S.; Kim, S. C.; Kim, I. J.; Kim, Y. K.; Jeon, S. M. [Pusan National University Hospital, Pusan (Korea, Republic of)

    2007-07-01

    A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with adolescent idiopathic scoliosis. The mean mini-mental status exam score in the congenital scoliosis group was significantly lower than that in the adolescent idiopathic scoliosis group. Group analysis found that various brain areas of patients with congenital scoliosis showed glucose hypometabolisms in the left prefrontal cortex (Brodmann area 10), right orbitofrontal cortex (Brodmann area 11), left dorsolateral prefrontal cortex (Brodmann area 9), left anterior cingulate gyrus (Brodmann area 24) and pulvinar of the left thalamus. From this study, we could find the metabolic abnormalities of brain in patients with congenital scoliosis and suggest the possible role of voxel-based analysis of brain fluorodeoxyglucose positron emission tomography.

  13. Epileptiform electroencephalogram abnormality in children with congenital sensorineural hearing loss.

    Science.gov (United States)

    El-Badry, Mohamed Mohamed; Hamdy, Nermin Aly; Sobhy, Sayed; Gamal, Reham

    2014-04-01

    This work was designed to study electroencephalogram findings in children with congenital sensorineural hearing loss and correlate these findings with the SNHL parameters as duration, etiology, severity, and type. Ninety children with bilateral congenital sensorineural hearing loss served as the study group. They were free from any neurological disorders or symptoms that are commonly associated with abnormal electroencephalogram as convulsions or loss of consciousness. Twenty children having normal hearing with no history of otological or neurological disorders served as the control group. All children participating in the study were subjected to full medical and audiological history, otological examination, neurological examination, audiological evaluation and electroencephalogram recording. Mean age of the children in the control group was 3.56 ± 2.1 years and mean age of the children in the study group was 3.8 ± 2.2 years. While none of the control children had abnormal electroencephalogram, 38 (42.2%) of children with congenital SNHL had epileptiform electroencephalogram abnormality. The epileptiform abnormality was generalized in 14 children (36.8%), focal temporal in 17 children (44.7%) and focal other than temporal in 7 children (18.4%). According to the hemispheric side affected, the abnormality was right in 14 children (36.8%), left in 10 children (26.3%) and bilateral in 14 children (36.8%). No statistically significant predominance of specific site or side of the epileptiform abnormality was found. Similarly, no statistical significant prevalent of the epileptiform abnormality was found in relation to the age or sex of children, duration of hearing loss or etiology of hearing loss (i.e., genetic vs. neonatal insults). On the other hand, the epileptiform abnormality was statistically prevalent in children with moderate degree of hearing loss, and in children with auditory neuropathy spectrum disorder. The epileptiform electroencephalogram abnormality is

  14. Congenital abnormalities of the vertebral column in ferrets.

    Science.gov (United States)

    Proks, Pavel; Stehlik, Ladislav; Paninarova, Michaela; Irova, Katarina; Hauptman, Karel; Jekl, Vladimir

    2015-01-01

    Vertebral column pathologies requiring surgical intervention have been described in pet ferrets, however little information is available on the normal vertebral formula and congenital variants in this species. The purpose of this retrospective study was to describe vertebral formulas and prevalence of congenital vertebral anomalies in a sample of pet ferrets. Radiographs of 172 pet ferrets (96 males and 76 females) were included in this retrospective study. In 143 ferrets (83.14%), five different formulas of the vertebral column were recorded with normal morphology of vertebrae (rib attachment included) but with a variable number of thoracic (Th), lumbar (L), and sacral (S) vertebrae. The number of cervical (C) vertebrae was constant in all examined animals. Observed vertebral formulas were C7/Th14/L6/S3 (51.74%), C7/Th14/L6/S4 (22.10%), C7/Th14/L7/S3 (6.98%), C7/Th15/L6/S3 (1.74%), and C7/Th15/L6/S4 (0.58%). Formula C7/Th14/L6/S4 was significantly more common in males than in females (P < 0.05). Congenital spinal abnormalities were found in 29 ferrets (16.86%), mostly localized in the thoracolumbar and lumbosacral regions. The cervical region was affected in only one case. Transitional vertebrae represented the most common congenital abnormalities (26 ferrets) in the thoracolumbar (13 ferrets) and lumbosacral regions (10 ferrets) or simultaneously in both regions (three ferrets). Other vertebral anomalies included block (two ferrets) and wedge vertebra (one ferret). Spina bifida was not detected. Findings from the current study indicated that vertebral formulas may vary in ferrets and congenital abnormalities are common. This should be taken into consideration for surgical planning. © 2014 American College of Veterinary Radiology.

  15. Left-Sided Congenital Diaphragmatic Hernia with Multiple Congenital Cardiac Anomalies, Hernia Sac, and Microscopic Hepatic Heterotopia: A Case Report

    Directory of Open Access Journals (Sweden)

    Maria Arafah

    2011-01-01

    Full Text Available Congenital diaphragmatic hernia is a common congenital anomaly of uncertain etiology. Its association with multiple congenital anomalies in various organs is well recognized and antenatal radiological evidence of congenital diaphragmatic hernia warrants thorough evaluation to detect other anomalies, some of which can be life threatening. Rarely, heterotopic hepatic tissue is identified in the hernia, a rare pathological finding, exhibiting more than one macroscopic and microscopic characteristics, and always associated with cardiac congenital anomalies. Herein, we report a case of left-sided microscopic heterotopic hepatic tissue in a congenital diaphragmatic hernia in an infant with multiple cardiac congenital anomalies, but with preserved pericardium.

  16. 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.)

  17. Hematologic Abnormalities in Cyanotic Congenital Heart Disease Patients

    Directory of Open Access Journals (Sweden)

    Soheila Chamanian

    2015-01-01

    Full Text Available Introduction: Patients with cyanotic heart disease may have an acceptable quality of life. However, they are invariably prone to several complications. The aim of this study is search about hematologic abnormalities in cyanotic congenital heart disease patients. Materials and Methods:  In this cross sectional study every cyanotic congenital heart disease patients who was referred to the adult congenital heart disease clinic was selected and asked of any possible hyperviscosity symptoms, gingival bleeding, Epistaxis, hemoptysis, hypermenorrhagia and gouty arthritis irrespective of their age, gender and primary diagnosis in a six-month period. In this regard, 02 saturation was obtained via pulse oximetry, an abdominal ultrasound was done in order to discover any gallstones and lab tests including CBC, coagulation parameters (bleeding time(BT,clotting time(CT, prothrombin time(PT,international ratio( INR, Ferritin, blood urea nitrogen (BUN and creatinine (Cr were provided as well. Results:  A total of 69 patients were enrolled in the present study. The mean age of the patients was 22.44±5.72 with a minimum of 15 and the maximum of 46 years old. Twenty two (34.4% of them were female and 45(65.6% were male. Conclusion: Our patients had less hyperuricemia, there is no correlation between hyperviscosity symptoms and haematocrit level and an inverse correlation between the Ferritin level and hyperviscosity symptoms were seen.  

  18. Prevalence and distribution of congenital abnormalities in Turkey: differences between the prenatal and postnatal periods.

    Science.gov (United States)

    Oztarhan, Kazim; Gedikbasi, Ali; Yildirim, Dogukan; Arslan, Oguz; Adal, Erdal; Kavuncuoglu, Sultan; Ozbek, Sibel; Ceylan, Yavuz

    2010-12-01

    The aim of this study was to determine the distribution of cases associated with congenital abnormalities during the following three periods: pregnancy, birth, and the neonatal period. This was a retrospective study of cases between 2002 and 2006. All abnormal pregnancies, elective terminations of pregnancies, stillbirths, and births with congenital abnormalities managed in the Neonatology Unit were classified based on the above distribution scheme. During the 5-year study period, 1906 cases with congenital abnormalities were recruited, as follows: 640 prenatally detected and terminated cases, with most abnormalities related to the central nervous system, chromosomes, and urogenital system (56.7%, 12.7%, and 8.9%, respectively); 712 neonates with congenital abnormalities (congenital heart disease [49.2%], central nervous system abnormalities [14.7%], and urogenital system abnormalities [12.9%]); and hospital stillbirths, of which 34.2% had malformations (220 prenatal cases [34.4%] had multiple abnormalities, whereas 188 liveborn cases [26.4%] had multiple abnormalities). The congenital abnormalities rate between 2002 and 2006 was 2.07%. Systematic screening for fetal anomalies is the primary means for identification of affected pregnancies. © 2010 The Authors. Congenital Anomalies © 2010 Japanese Teratology Society.

  19. Abnormal Congenital Location of Stapes’ Superstructure: Clinical and Embryological Implications

    Directory of Open Access Journals (Sweden)

    Vânia Henriques

    2016-01-01

    Full Text Available Congenital middle ear malformations are rare. Most part of them are usually associated with other malformations, such as aural atresia, microtia, and dysmorphic craniofacial features. A clinical case of a 24-year-old male with a right-sided conductive hearing loss since his childhood, without craniofacial malformation, is presented. He was proposed for exploratory tympanotomy under the suspicious diagnosis of otosclerosis. The surgery revealed an abnormal location of stapes’ superstructure, which was attached to the promontory and had an isolated and mobile osseous footplate in the oval window. A stapes prosthesis was inserted and resulted in closure of the air-bone gap by 25 dB. A review of the literature was also performed using MEDLINE. Two theories diverge on the embryologic origin of the stapes. Our findings seem to be in favour of the theory that defines two different embryologic origins to the stapes.

  20. Chromosome abnormalities and the genetics of congenital corneal opacification.

    Science.gov (United States)

    Mataftsi, A; Islam, L; Kelberman, D; Sowden, J C; Nischal, K K

    2011-01-01

    Congenital corneal opacification (CCO) encompasses a broad spectrum of disorders that have different etiologies, including genetic and environmental. Terminology used in clinical phenotyping is commonly not specific enough to describe separate entities, for example both the terms Peters anomaly and sclerocornea have been ascribed to a clinical picture of total CCO, without investigating the presence or absence of iridocorneal adhesions. This is not only confusing but also unhelpful in determining valid genotype-phenotype correlations, and thereby revealing clues for pathogenesis. We undertook a systematic review of the literature focusing on CCO as part of anterior segment developmental anomalies (ASDA), and analyzed its association specifically with chromosomal abnormalities. Genes previously identified as being associated with CCO are also summarized. All reports were critically appraised to classify phenotypes according to described features, rather than the given diagnosis. Some interesting associations were found, and are discussed.

  1. Approach to Investigating Congenital Skeletal Abnormalities in Livestock.

    Science.gov (United States)

    Dittmer, K E; Thompson, K G

    2015-09-01

    Congenital skeletal abnormalities may be genetic, teratogenic, or nutritional in origin; distinguishing among these different causes is essential in the management of the disease but may be challenging. In some cases, teratogenic or nutritional causes of skeletal abnormalities may appear very similar to genetic causes. For example, chondrodysplasia associated with intrauterine zinc or manganese deficiency and mild forms of hereditary chondrodysplasia have very similar clinical features and histologic lesions. Therefore, historical data are essential in any attempt to distinguish genetic and acquired causes of skeletal lesions; as many animals as possible should be examined; and samples should be collected for future analysis, such as genetic testing. Acquired causes of defects often show substantial variation in presentation and may improve with time, while genetic causes frequently have a consistent presentation. If a disease is determined to be of genetic origin, a number of approaches may be used to detect mutations, each with advantages and disadvantages. These approaches include sequencing candidate genes, single-nucleotide polymorphism array with genomewide association studies, and exome or whole genome sequencing. Despite advances in technology and increased cost-effectiveness of these techniques, a good clinical history and description of the pathology and a reliable diagnosis are still key components of any investigation. © The Author(s) 2015.

  2. Gated magnetic resonance imaging of congenital cardiac malformations

    International Nuclear Information System (INIS)

    Fletcher, B.D.; Jocobstein, M.D.; Nelson, A.D.; Riemenschneider, T.A.; Alfidi, R.J.

    1984-01-01

    Magnetic resonance (MR) images of a variety of cardiac malformations in 19 patients aged 1 week to 33 years were obtained using pulse plethysmographic- or ECG-gated spin echo pulse sequences. Coronal, axial, and sagittal images displaying intracardiac structures with excellent spatial and contrast resolution were acquired during systole or diastole. It is concluded that MR will be a valuable noninvasive method of diagnosing congenital heart disease

  3. New Technologies for Surgery of the Congenital Cardiac Defect

    Directory of Open Access Journals (Sweden)

    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.

  4. Fetal and neonatal abnormalities due to congenital rubella syndrome: a review of literature.

    Science.gov (United States)

    Yazigi, Alexandre; De Pecoulas, Aurelia Eldin; Vauloup-Fellous, Christelle; Grangeot-Keros, Liliane; Ayoubi, Jean-Marc; Picone, Olivier

    2017-02-01

    Rubella virus infection during the first trimester of pregnancy can cause congenital rubella syndrome (CRS). We aimed to describe the abnormalities in order to define the ultrasound features to look for when performing prenatal scans. The goal of this review is to focus specifically on the signs of CRS accessible to prenatal diagnosis. We analyzed every case of CRS described before and/or after birth that we identified in the Pubmed database and classified them as accessible or not to prenatal diagnosis. The most frequently reported malformations accessible to prenatal diagnosis were: cardiac septal defects, pulmonary artery stenosis, microcephaly, cataract, microphtalmia, and hepatosplenomegaly. This extensive literature review shows that the ultrasound features of CRS are not well known, even though rubella was the first teratogenic virus described. This review will help clinicians in the management of rubella during pregnancy by clarifying the findings to be sought.

  5. The incidence of obvious congenital abnormalities among the neonates born in Rasht hospitals in 2011

    Directory of Open Access Journals (Sweden)

    Seyedeh Zohreh Jalali

    2015-05-01

    Full Text Available Background: Congenital abnormalities are an important cause of morbidity and mortality in neonates. This study was conducted to determine the incidence of obvious congenital abnormalities in live neonates and the relationship between these abnormalities and some important factors in live newborns in Rasht hospitals. Methods: In this cross-sectional study, all live neonates born in maternity hospitals of Rasht were investigated for the presence of apparent congenital abnormalities. The data recorded in the patients’ files, including the information of parents, neonate and the type of abnormality were collected. Data were analyzed by SPSS (version 16. Results: From 1824 live neonates, 77 cases (4.2% had congenital abnormalities. The most common diagnosed abnormalities were musculoskeletal (37.7%, genital (16.9%, urinary (13%, cardiovascular (13%, and nervous system (10.4% anomalies. The increased incidence of congenital abnormalities was correlated with gestational age, route of pregnancy, history of maternal disease and drug consumption during pregnancy (P<0.0001. No significant relationship was found between abnormalities and sex, birth weight, age of parents, and consanguineous marriage. Conclusion: As gestational age, route of pregnancy, history of maternal disease and drug consumption during pregnancy were significantly associated with the increased incidence of congenital abnormalities in this region, it is necessary to pay more attention to the risk factors and the approach to control them.

  6. Chromosomal abnormalities and copy number variations in fetal left-sided congenital heart defects.

    Science.gov (United States)

    Jansen, Fenna A R; Hoffer, Mariette J V; van Velzen, Christine L; Plati, Stephani Klingeman; Rijlaarsdam, Marry E B; Clur, Sally-Ann B; Blom, Nico A; Pajkrt, Eva; Bhola, Shama L; Knegt, Alida C; de Boer, Marion A; Haak, Monique C

    2016-02-01

    To demonstrate the spectrum of copy number variants (CNVs) in fetuses with isolated left-sided congenital heart defects (CHDs), and analyse genetic content. Between 2003 and 2012, 200 fetuses were identified with left-sided CHD. Exclusion criteria were chromosomal rearrangements, 22q11.2 microdeletion and/or extra-cardiac malformations (n = 64). We included cases with additional minor anomalies (n = 39), such as single umbilical artery. In 54 of 136 eligible cases, stored material was available for array analysis. CNVs were categorized as either (likely) benign, (likely) pathogenic or of unknown significance. In 18 of the 54 isolated left-sided CHDs we found 28 rare CNVs (prevalence 33%, average 1.6 CNV per person, size 10.6 kb-2.2 Mb). Our interpretation yielded clinically significant CNVs in two of 54 cases (4%) and variants of unknown significance in three other cases (6%). In left-sided CHDs that appear isolated, with normal chromosome analysis and 22q11.2 FISH analysis, array analysis detects clinically significant CNVs. When counselling parents of a fetus with a left-sided CHD it must be taken into consideration that aside from the cardiac characteristics, the presence of extra-cardiac malformations and chromosomal abnormalities influence the treatment plan and prognosis. © 2015 John Wiley & Sons, Ltd.

  7. "Just-In-Time" Simulation Training Using 3-D Printed Cardiac Models After Congenital Cardiac Surgery.

    Science.gov (United States)

    Olivieri, Laura J; Su, Lillian; Hynes, Conor F; Krieger, Axel; Alfares, Fahad A; Ramakrishnan, Karthik; Zurakowski, David; Marshall, M Blair; Kim, Peter C W; Jonas, Richard A; Nath, Dilip S

    2016-03-01

    High-fidelity simulation using patient-specific three-dimensional (3D) models may be effective in facilitating pediatric cardiac intensive care unit (PCICU) provider training for clinical management of congenital cardiac surgery patients. The 3D-printed heart models were rendered from preoperative cross-sectional cardiac imaging for 10 patients undergoing congenital cardiac surgery. Immediately following surgical repair, a congenital cardiac surgeon and an intensive care physician conducted a simulation training session regarding postoperative care utilizing the patient-specific 3D model for the PCICU team. After the simulation, Likert-type 0 to 10 scale questionnaire assessed participant perception of impact of the training session. Seventy clinicians participated in training sessions, including 22 physicians, 38 nurses, and 10 ancillary care providers. Average response to whether 3D models were more helpful than standard hand off was 8.4 of 10. Questions regarding enhancement of understanding and clinical ability received average responses of 9.0 or greater, and 90% of participants scored 8 of 10 or higher. Nurses scored significantly higher than other clinicians on self-reported familiarity with the surgery (7.1 vs. 5.8; P = .04), clinical management ability (8.6 vs. 7.7; P = .02), and ability enhancement (9.5 vs. 8.7; P = .02). Compared to physicians, nurses and ancillary providers were more likely to consider 3D models more helpful than standard hand off (8.7 vs. 7.7; P = .05). Higher case complexity predicted greater enhancement of understanding of surgery (P = .04). The 3D heart models can be used to enhance congenital cardiac critical care via simulation training of multidisciplinary intensive care teams. Benefit may be dependent on provider type and case complexity. © The Author(s) 2016.

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

    OpenAIRE

    Nemani, Lalita; Barik, Ramachandra; Patnaik, Amar Narayana; Mishra, Ramesh C; Rao, Amaresh M; Kapur, Pragati

    2014-01-01

    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 vent...

  9. Cerebral glucose metabolic abnormality in patients with congenital scoliosis

    OpenAIRE

    Park, Weon Wook; Suh, Kuen Tak; Kim, Jeung Il; Ku, Ja Gyung; Lee, Hong Seok; Kim, Seong-Jang; Kim, In-Ju; Kim, Yong-Ki; Lee, Jung Sub

    2008-01-01

    A possible association between congenital scoliosis and low mental status has been recognized, but there are no reports describing the mental status or cerebral metabolism in patients with congenital scoliosis in detail. We investigated the mental status using a mini-mental status exam as well as the cerebral glucose metabolism using F-18 fluorodeoxyglucose brain positron emission tomography in 12 patients with congenital scoliosis and compared them with those of 14 age-matched patients with ...

  10. Congenital visual pathway abnormalities : A window onto cortical stability and plasticity

    NARCIS (Netherlands)

    Hoffmann, Michael B.; Dumoulin, Serge O.

    2015-01-01

    Sensory systems project information in a highly organized manner to the brain, where it is preserved in maps of the sensory structures. These sensory projections are altered in congenital abnormalities, such as anophthalmia, albinism, achiasma, and hemihydranencephaly. Consequently, these

  11. Congenital abnormalities (a bibliography with abstracts). Report for 1964-Nov 77

    International Nuclear Information System (INIS)

    Harrison, E.A.

    1977-11-01

    Radiation hazards, food additives, gene mutations, musculoskeletal diseases, neoplasms, leukemia, rubella and chromosomes as related to congenital abnormalities are topics covered by the citations of research reports in the bibliography

  12. Frequency of Congenital Cardiac Malformations in the Neonates with Congenital Hypothyroidism

    Directory of Open Access Journals (Sweden)

    yazdan ghandi

    2018-05-01

    Full Text Available Background: Congenital hypothyroidism (CH is a prevalent disorder, which is associated with several other congenital anomalies, especially cardiac diseases. The present study aimed to determine the prevalence of congenital heart disease (CHD in the neonates with CH.Methods: This cross-sectional study was conducted on two groups of 79 subjects to compare the type and frequency of congenital cardiac anomalies between the neonates with the confirmed diagnosis of CH (TSH≥10 mlU/ml and healthy infants. The study was performed in Kowsar Clinic affiliated to Arak University of Medical Sciences, Iran. Level of thyroid-stimulating hormone (TSH was measured within days 3-7 of birth using the samples collected from the soles of the neonates. In addition, all the subjects were evaluated for the presence of CHD using echocardiography before day 30 of life.Results: In total, 79 neonates were enrolled in the study. The case group consisted of 34 females (43.04% and 45 males (53.96%, and the control group consisted of 43 females (54.43% and 36 males (45.57%. The groups were matched in terms of age and gender. Cardiac involvement was only detected in the case group (CH infants with the prevalence of 22.7%. Among the non-cyanotic malformations observed in the case group, one infant had ventricular septal defect (1.3%, eight infants had atrial septal defect (10.1%, three infants had patent ductus arteriosus (3.8%, three neonates had endocardial cushion defect (3.8%, two neonates had pulmonary stenosis (2.5%, and one infant had dilated cardiomyopathy (1.3%. Moreover, six neonates were diagnosed with Down syndrome. All the infants with endocardial cushion defect (n=3 had Down syndrome, and no significant association was observed between TSH and thyroxine (T4 in the presence of CHD.Conclusion: According to the results, the high prevalence of cardiac malformations in the neonates with CH necessitated cardiac examinations using echocardiography.

  13. Cardiac Abnormalities in Youth with Obesity and Type 2 Diabetes.

    Science.gov (United States)

    Bacha, Fida; Gidding, Samuel S

    2016-07-01

    Childhood obesity has been linked to cardiovascular disease (CVD) risk in adulthood. Of great concern is the expected increase in the population's CVD burden in relation to childhood obesity. This is compounded by the risk related to chronic hyperglycemia exposure in youth with type 2 diabetes. We herein provide an overview of the spectrum of early cardiovascular disease manifestation in youth with obesity and type 2 diabetes, in particular abnormalities in cardiac structure and function. Cardiac remodeling and adverse target organ damage is already evident in the pediatric age group in children with obesity and type 2 diabetes. This supports the importance of intensifying obesity prevention efforts and early intervention to treat comorbidities of obesity in the pediatric age group to prevent cardiac events in early adulthood.

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

    International Nuclear Information System (INIS)

    Akagi, Teiji; Kiyomatsu, Yumi; Ohara, Nobutoshi; Takagi, Junichi; Sato, Noboru; Kato, Hirohisa; Eto, Takaharu.

    1989-01-01

    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)

  15. Contemporary cardiac surgery for adults with congenital heart disease.

    Science.gov (United States)

    Beurtheret, Sylvain; Tutarel, Oktay; Diller, Gerhard Paul; West, Cathy; Ntalarizou, Evangelia; Resseguier, Noémie; Papaioannou, Vasileios; Jabbour, Richard; Simpkin, Victoria; Bastin, Anthony J; Babu-Narayan, Sonya V; Bonello, Beatrice; Li, Wei; Sethia, Babulal; Uemura, Hideki; Gatzoulis, Michael A; Shore, Darryl

    2017-08-01

    Advances in early management of congenital heart disease (CHD) have led to an exponential growth in adults with CHD (ACHD). Many of these patients require cardiac surgery. This study sought to examine outcome and its predictors for ACHD cardiac surgery. This is an observational cohort study of prospectively collected data on 1090 consecutive adult patients with CHD, undergoing 1130 cardiac operations for CHD at the Royal Brompton Hospital between 2002 and 2011. Early mortality was the primary outcome measure. Midterm to longer-term survival, cumulative incidence of reoperation, other interventions and/or new-onset arrhythmia were secondary outcome measures. Predictors of early/total mortality were identified. Age at surgery was 35±15 years, 53% male, 52.3% were in New York Heart Association (NYHA) class I, 37.2% in class II and 10.4% in class III/IV. Early mortality was 1.77% with independent predictors NYHA class ≥ III, tricuspid annular plane systolic excursion (TAPSE) <15 mm and female gender. Over a mean follow-up of 2.8±2.6 years, 46 patients died. Baseline predictors of total mortality were NYHA class ≥ III, TAPSE <15 mm and non-elective surgery. The number of sternotomies was not independently associated with neither early nor total mortality. At 10 years, probability of survival was 94%. NYHA class among survivors was significantly improved, compared with baseline. Contemporary cardiac surgery for ACHD performed at a single, tertiary reference centre with a multidisciplinary approach is associated with low mortality and improved functional status. Also, our findings emphasise the point that surgery should not be delayed because of reluctance to reoperate only. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  16. Congenital upper urinary tract abnormalities: new images of the same diseases

    Energy Technology Data Exchange (ETDEWEB)

    Maranhao, Carol Pontes de Miranda; Santos, Carla Jotta dos [Clinica de Medicina Nuclear e Radiologia de Maceio (MedRadiUS), AL (Brazil); Miranda, Christiana Maia Nobre Rocha de; Farias, Lucas de Padua Gomes de; Padilha, Igor Gomes, E-mail: maiachristiana@globo.com [Universidade Federal de Alagoas (UFAL), Maceio, AL (Brazil)

    2013-01-15

    Congenital upper urinary tract abnormalities imply a variable clinical spectrum of morphofunctional changes ranging from asymptomatic conditions to renal failure and incompatibility with life. Computed tomography, which has overcome excretory urography imaging, has been playing a key role in the diagnosis of congenital anomalies, serving as a better guidance in the therapeutic and surgical decision-making process, besides acting as an essential tool in the identification of associated complications and aiding in the performance of minimally invasive surgery techniques. (author)

  17. [Tracheobronchial and pulmonary parenchymatous congenital abnormalities requiring surgical treatment in adults].

    Science.gov (United States)

    Mordant, P; De Dominicis, F; Berna, P; Riquet, M

    2012-04-01

    Most tracheobronchial and parenchymatous congenital abnormalities of the respiratory system are diagnosed in early life. However, some lesions may be initially silent and diagnosed only in adulthood. These cases included congenital abnormalies of the tracheobronchial tract (tracheal and/or bronchial stenosis, bronchogenic cysts, bronchial atresia, oesotracheal fistula, oesobronchial fistula, and tracheal diverticulum), and lung parenchyma itself (pulmonary sequestration, congenital cystic adenomatoïd malformation, lobar emphysema, lobar or lung hypoplasia). To avoid dreadful complications, these rare cases deserve surgical management, and must be known by chest physicians and surgeons. Copyright © 2012 Elsevier Masson SAS. All rights reserved.

  18. The ethics of abortions for fetuses with congenital abnormalities.

    Science.gov (United States)

    Jotkowitz, Alan; Zivotofsky, Ari Z

    2010-10-01

    Abortion remains a highly contentious moral issue, with the debate usually framed as a battle between the fetus's right to life and the woman's right to choose. Often overlooked in this debate is the impact of the concurrent legalization of abortion and the development of new prenatal screening tests on the birth prevalence of many inherited diseases. Most proponents of abortion support abortion for fetuses with severe congenital diseases, but there has unfortunately been, in our opinion, too little debate over the moral appropriateness of abortion for much less severe congenital conditions such as Down's syndrome, deafness, and dwarfism. Due to scientific advances, we are looking at a future in which prenatal diagnosis will be safer and more accurate, raising the specter, and the concomitant ethical concerns, of wholesale abortions. Herein, we present a reframing of the abortion debate that better encompasses these conditions and offers a more nuanced position. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.

  19. Application of ultrasound in fetal cardiac abnormalitis screening and analyzing of influencing factors

    International Nuclear Information System (INIS)

    Wu Wei; Chen Hui; Guo Hua; Fu Lijuan

    2009-01-01

    Objective: To identify the application value of ultrasound in the screening of fetal cardiac abnormalities and to reduce its affecting factors, in order to maximally decrease the birth of oaf. Methods: Adopting the method of four chamber hearts cross-section and sound beam plane head laterodeviation, 3821 fetal hearts were screened by ultrasonocardiography in middle and late fetal period. The influencing factors were also analyzed. Screening results were compared with the autopsy following induced labor and the ultrasonocardiogram after borne. Results: Total 23 cases of the cardiac anomalies were confirmed by odinopoeia or after borned, 21 cases were diagnosed by antepartum ultrasonocardiography, the detectable rate were 91.3%(21/23). And the complex cardiac anomalies were 19 cases, accounted for 82.61%(19/23), the general malformation were 4 cases, accounted for 17.39%(4/23). In 19 cases of the complex anomalies, 17 cases were diagnosed by antepartum examination in the first time, 2 cases were diagnosed by reexamination, the total detectable rate were 100%(19/19). Conclusion: Ultrasonography is not only non-invasive but also unique method in detecting fetal heart defects. It will help to diagnose definitely the vast majority of congenital malformation in the fetal heart, especially complex malformation in the middle and later fetal period. There are some limitations and chronergy in ultrasonography for the screening of fetal heart defects, which should be followed-up when the fetal appeared 'normal' in the early screening. (authors)

  20. Positive correlation between pesticide sales and central nervous system and cardiovascular congenital abnormalities in Brazil.

    Science.gov (United States)

    Froes Asmus, Carmen I R; Camara, Volney M; Raggio, Ronir; Landrigan, Philip J; Claudio, Luz

    2017-10-01

    This study investigated the association between pesticide exposure in Brazil (2005-2013) with rates of central nervous system (CNS) and cardiovascular system (CVS) congenital abnormalities in 2014. An exposure variable was established from data on production and sales of pesticides (kg) per crop area (ha) for 2012 and 2013 years. The Brazilian states were divided into three categories: high, medium, and low pesticide use and rate ratios were estimated for each group of states (CI: 95 %). In 2013 and 2014, the high use group presented a 100 and a 75 % increase, and the medium group a 65 and 23 % increase, respectively, in the risk of CNS and CVS congenital abnormalities at birth, compared to the low use group. These findings suggest that pesticide exposure could be associated with increased risk of congenital malformations at birth in Brazil.

  1. Kidney transplantation in a patient with absent right common iliac artery and congenital renal abnormalities

    Directory of Open Access Journals (Sweden)

    Clifton Ming Tay

    2015-01-01

    Conclusion: Kidney transplantation in such cases is safe and we recommend routine pre-operative imaging of patients known to have congenital genitourniary abnormalities. The kidney should be implanted heterotopically to the contralateral side of the vascular anomaly and care must be taken to preserve vascular supply to the lower limbs.

  2. [Amyoplasia congenita: a serious congenital abnormality with a relatively favorable prognosis

    NARCIS (Netherlands)

    Petru, R.; Verrips, A.; Ravenswaaij-Arts, C.M.A. van

    2002-01-01

    After an uneventful pregnancy a girl was born with serious joint contractures and several fractures of the long bones. The family history was negative for congenital abnormalities. Based on the distinct clinical presentation the diagnosis was 'amyoplasia', which is a partial aplasia of skeletal

  3. Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities

    NARCIS (Netherlands)

    vanderKnaap, MS; Smit, LME; Barth, PG; CatsmanBerrevoets, CE; Brouwer, OF; Begeer, JH; deCoo, IFM; Valk, J.

    A survey was performed of magnetic resonance imaging (MRI) findings in 21 patients with congenital muscular dystrophy (QID) with cerebral abnormalities to evaluate the contribution of MRI to the classification of CMD patients. In 5 patients with Walker-Warburg syndrome (WWS), MRI showed

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    Nemani, Lalita; Barik, Ramachandra; Patnaik, Amar Narayana; Mishra, Ramesh C; Rao, Amaresh M; Kapur, Pragati

    2014-09-01

    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.

  6. Congenital heart disease linked to maternal autoimmunity against cardiac myosin.

    Science.gov (United States)

    Cole, Charles R; Yutzey, Katherine E; Brar, Anoop K; Goessling, Lisa S; Van Vickle-Chavez, Sarah J; Cunningham, Madeleine W; Eghtesady, Pirooz

    2014-05-01

    Structural congenital heart disease (CHD) has not previously been linked to autoimmunity. In our study, we developed an autoimmune model of structural CHD that resembles hypoplastic left heart syndrome (HLHS), a life-threatening CHD primarily affecting the left ventricle. Because cardiac myosin (CM) is a dominant autoantigen in autoimmune heart disease, we hypothesized that immunization with CM might lead to transplacental passage of maternal autoantibodies and a prenatal HLHS phenotype in exposed fetuses. Elevated anti-CM autoantibodies in maternal and fetal sera, as well as IgG reactivity in fetal myocardium, were correlated with structural CHD that included diminished left ventricular cavity dimensions in the affected progeny. Further, fetuses that developed a marked HLHS phenotype had elevated serum titers of anti-β-adrenergic receptor Abs, as well as increased protein kinase A activity, suggesting a potential mechanism for the observed pathological changes. Our maternal-fetal model presents a new concept linking autoimmunity against CM and cardiomyocyte proliferation with cardinal features of HLHS. To our knowledge, this report shows the first evidence in support of a novel immune-mediated mechanism for pathogenesis of structural CHD that may have implications in its future diagnosis and treatment.

  7. Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice.

    Science.gov (United States)

    Oliveira, Priscila H A; Souza, Beatriz S; Pacheco, Eimi N; Menegazzo, Michele S; Corrêa, Ivan S; Zen, Paulo R G; Rosa, Rafael F M; Cesa, Claudia C; Pellanda, Lucia C; Vilela, Manuel A P

    2018-01-01

    Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs) of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%), interventricular communication (51.6%), patent ductus arteriosus (35.4%), pulmonary artery stenosis (25.8%) and tetralogy of Fallot (22.5%). Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.

  8. Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice

    Directory of Open Access Journals (Sweden)

    Priscila H. A. Oliveira

    Full Text Available Abstract Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. Objective: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional changes. Method: A systematic search was performed on Medline electronic databases (PubMed, Embase, Cochrane, Lilacs of articles published until January 2016. Eligibility criteria were case reports or review articles that evaluated the association of ophthalmic and cardiac abnormalities in genetic syndrome patients younger than 18 years. Results: The most frequent genetic syndromes were: Down Syndrome, Velo-cardio-facial / DiGeorge Syndrome, Charge Syndrome and Noonan Syndrome. The most associated cardiac malformations with ocular findings were interatrial communication (77.4%, interventricular communication (51.6%, patent ductus arteriosus (35.4%, pulmonary artery stenosis (25.8% and tetralogy of Fallot (22.5%. Conclusion: Due to their clinical variability, congenital cardiac malformations may progress asymptomatically to heart defects associated with high morbidity and mortality. For this reason, the identification of extra-cardiac characteristics that may somehow contribute to the diagnosis of the disease or reveal its severity is of great relevance.

  9. Clinical evaluation of diuretic renography in infants and children with congenital urinary abnormality

    International Nuclear Information System (INIS)

    Li Jingsong; Li Jianing; Fu Hongliang; Zou Renjian; Wu Jingchuan

    2006-01-01

    Objective: The clinical application of furosemide plus 15-minute diuretic renography (F+15 DR) was evaluated in infants and children with congenital urinary abnormalities. Methods: In 163 patients with different congenital urinary abnormalities undergoing F+15 DR, 97 were operated and followed by F+15 DR reexamination. The DR imaging characteristics were analyzed and, based on those analyses, hydronephrosis was classified into five degrees. Follow-up data were analyzed both quantitatively and qualitatively. Results: Each renal abnormality (kidney duplication 60, horseshoe kidney 6, multiple cysts of kidney 5, hypoplasia 35, ureterocele 20, displacement of ureter opening 13, megaloureter 20, valve of ureter 26) exhibited its unique characteristics on DR imaging. Renal functions of those patients were improved dur- ing the follow-up after surgical operations. Patients with duplex kidney and ureter abnormalities had better prognosis than those with urethral valve. Conclusion: F + 15 DR imaging may reveal characteristic changes of congenital urinary abnormalities and helps in the qualitative or quantitative evaluation of the treatments. (authors)

  10. Usefulness of additional fetal magnetic resonance imaging in the prenatal diagnosis of congenital abnormalities.

    Science.gov (United States)

    We, Ji Sun; Young, Lee; Park, In Yang; Shin, Jong Chul; Im, Soo Ah

    2012-12-01

    Our aim was to compare the value of fetal magnetic resonance imaging (MRI) with detailed ultrasound in the prenatal diagnosis of congenital abnormalities. This retrospective study reviewed the medical records of pregnant women and their neonates who, after ultrasound, were suspected to have congenital abnormalities. They then underwent a detailed ultrasound examination and a fetal MRI in our institutions. Fetal MRI was performed in 81 cases. Each prenatal presumptive diagnosis, based on detailed ultrasound examination and fetal MRI, was compared with the postnatal confirmed diagnosis. In 58 cases, the data collected were confirmed by the postnatal diagnosis. Supplemental information from fetal MRI was useful in 17 of the 22 cases involving the central nervous system (CNS), two of two cases involving the thorax, nine of nine cases involving the genitourinary system, two of eight cases involving the gastrointestinal system, and ten of ten cases involving complex malformations. Fetal MRI did not provide significantly useful information or facilitate a more accurate diagnosis except for CNS abnormalities. Fetal MRI was not superior to an ultrasound examination in the prenatal detection of congenital abnormalities. A detailed ultrasound examination performed by experienced obstetricians had satisfactory accuracy in the diagnosis of fetal abnormalities compared with fetal MRI. Fetal MRI might be useful in appropriate cases in Korea. Greater effort is required to increase the ultrasound knowledge and skill of competent obstetricians.

  11. Congenital brain abnormalities: an update on malformations of cortical development and infratentorial malformations.

    Science.gov (United States)

    Poretti, Andrea; Boltshauser, Eugen; Huisman, Thierry A G M

    2014-07-01

    In the past two decades, significant progress in neuroimaging and genetic techniques has allowed for advances in the correct definition/classification of congenital brain abnormalities, which have resulted in a better understanding of their pathogenesis. In addition, new groups of diseases, such as axonal guidance disorders or tubulinopathies, are increasingly reported. Well-defined neuroimaging diagnostic criteria have been suggested for the majority of congenital brain abnormalities. Accurate diagnoses of these complex abnormalities, including distinction between malformations and disruptions, are of paramount significance for management, prognosis, and family counseling. In the next decade, these advances will hopefully be translated into deeper understanding of these disorders and more specific treatments. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  12. Congenital abnormalities in Japanese patients with Menkes disease.

    Science.gov (United States)

    Gu, Yan-Hong; Kodama, Hiroko; Kato, Tadaaki

    2012-10-01

    Menkes disease (MNK) is an X-linked recessive disorder. Incidence of live-born infants with MNK is 2.8 per million live births in Japan. The aim of this study was to observe congenital malformations (CMs) in MNK patients. Subjects comprised 35 Japanese male patients with classical MNK who received copper histidine treatment. Patient clinical data were obtained anonymously from medical records or medical record summaries by pediatrician's retrospective review through a survey. We observed 21 different CMs in 14 patients. Eight of these had a single CM, while six had multiple CMs. The most frequent CM was higher arched palate with other CMs found in five patients. There was no relationship between CMs and mutations in the ATP7A gene. Using Mann-Whitney U tests, age at death was also significantly lower in MNK patients with CMs (Pheart disease, and one with microphallus. Copyright © 2012 The Japanese Society of Child Neurology. Published by Elsevier B.V. All rights reserved.

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

    International Nuclear Information System (INIS)

    Kappanayil, Mahesh; Kannan, Rajesh; Kumar, Raman Krishna

    2011-01-01

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

  14. Kidney transplantation in a patient with absent right common iliac artery and congenital renal abnormalities.

    Science.gov (United States)

    Tay, Clifton Ming; Siew, Edwin Poh Yiew; Ng, Tze-Kiat; Vathsala, Anantharanam; Tiong, Ho Yee

    2015-01-01

    Congenital atresia of the common and external iliac arteries is a rare vascular anomaly that may be associated with congenital renal or genitourinary malformations. In ESRD patients, its presence may pose potential problems during renal transplantation. We report a rare case of kidney transplantation in a patient with VACTERL syndrome who was found to have absent right common and external iliac arteries during pre-operative imaging. Vascular supply to the right lower limb is derived from an anomalous branch from the left internal iliac artery which takes on a convoluted course across the pelvis. Kidney transplantation was performed successfully with implantation performed on the left side. Isolated cases of congenital iliac artery atresia have been described in association with urological abnormalities but no clear association has yet been established. However, we feel that it may be useful to perform routine angiographic evaluation for ESRD patients with congenital genitourinary abnormalities being planned for kidney transplantation. While most cases of congenital iliac artery anomalies are symptomatic with claudication, some remain asymptomatic with normal physical examination findings. There is some evidence in literature suggesting the usefulness of routine pre-operative CT in a selective group of patients. Kidney transplantation in such cases is safe and we recommend routine pre-operative imaging of patients known to have congenital genitourniary abnormalities. The kidney should be implanted heterotopically to the contralateral side of the vascular anomaly and care must be taken to preserve vascular supply to the lower limbs. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  15. Congenital abnormalities of aortic artery. Assessment in neonates and early childhood with multislice tomography

    International Nuclear Information System (INIS)

    Haberman, D.; Gurfinkel, E.; Beresnak, A.; Martinez, A.; Emsani, R.; Toledo, R.

    2009-01-01

    In the evaluation of aortic artery congenital abnormalities, the echocardiography and the plain X ray are the traditionally used imaging methods. Multislice angiotomography appears as an important method in diagnosis of these different diseases allowing evaluate these entities in a non invasive, fast and accurate form, giving to cardiovascular surgeons very important information to delineate the surgical strategy. In this article, we review the applications of multislice angiotomography in the evaluation of most frequent congenital anomalies of aorta artery, performed in neonates and early childhood. (authors) [es

  16. The association of congenital neuroblastoma and congenital heart disease

    International Nuclear Information System (INIS)

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

    1989-01-01

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

  17. Risk factors for nosocomial infections after cardiac surgery in newborns with congenital heart disease.

    Science.gov (United States)

    García, Heladia; Cervantes-Luna, Beatriz; González-Cabello, Héctor; Miranda-Novales, Guadalupe

    2017-11-23

    Congenital heart diseases are among the most common congenital malformations. Approximately 50% of the patients with congenital heart disease undergo cardiac surgery. Nosocomial infections (NIs) are the main complications and an important cause of increased morbidity and mortality associated with congenital heart diseases. This study's objective was to identify the risk factors associated with the development of NIs after cardiac surgery in newborns with congenital heart disease. This was a nested case-control study that included 112 newborns, including 56 cases (with NI) and 56 controls (without NI). Variables analyzed included perinatal history, associated congenital malformations, Risk-Adjusted Congenital Heart Surgery (RACHS-1) score, perioperative and postoperative factors, transfusions, length of central venous catheter, nutritional support, and mechanical ventilation. Differences were calculated with the Mann-Whitney-U test, Pearson X 2 , or Fisher's exact test. A multivariate logistic regression was used to determine the independent risk factors. Sepsis was the most common NI (37.5%), and the main causative microorganisms were gram-positive cocci. The independent risk factors associated with NI were non-cardiac congenital malformations (OR 6.1, CI 95% 1.3-29.4), central venous catheter indwelling time > 14 days (OR 3.7, CI 95% 1.3-11.0), duration of mechanical ventilation > 7 days (OR 6.6, CI 95% 2.1-20.1), and ≥5 transfusions of blood products (OR 3.1, CI 95% 1.3-8.5). Mortality attributed to NI was 17.8%. Newborns with non-cardiac congenital malformations and with >7 days of mechanical ventilation were at higher risk for a postoperative NI. Efforts must focus on preventable infections, especially in bloodstream catheter-related infections, which account for 20.5% of all NIs. Copyright © 2017. Published by Elsevier B.V.

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

    International Nuclear Information System (INIS)

    Committee on Congenital Heart Diseases, Internal Medicine Branch of Cadiovascular Diseases of China Physicians' Association

    2011-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

    Committee on Congenital Heart Diseases, Internal Medicine Branch of Cadiovascular Diseases of China Physicians' Association

    2011-05-15

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

  20. Nomenclature for congenital and paediatric cardiac disease: the International Paediatric and Congenital Cardiac Code (IPCCC) and the Eleventh Iteration of the International Classification of Diseases (ICD-11).

    Science.gov (United States)

    Franklin, Rodney C G; Béland, Marie J; Colan, Steven D; Walters, Henry L; Aiello, Vera D; Anderson, Robert H; Bailliard, Frédérique; Boris, Jeffrey R; Cohen, Meryl S; Gaynor, J William; Guleserian, Kristine J; Houyel, Lucile; Jacobs, Marshall L; Juraszek, Amy L; Krogmann, Otto N; Kurosawa, Hiromi; Lopez, Leo; Maruszewski, Bohdan J; St Louis, James D; Seslar, Stephen P; Srivastava, Shubhika; Stellin, Giovanni; Tchervenkov, Christo I; Weinberg, Paul M; Jacobs, Jeffrey P

    2017-12-01

    An internationally approved and globally used classification scheme for the diagnosis of CHD has long been sought. The International Paediatric and Congenital Cardiac Code (IPCCC), which was produced and has been maintained by the International Society for Nomenclature of Paediatric and Congenital Heart Disease (the International Nomenclature Society), is used widely, but has spawned many "short list" versions that differ in content depending on the user. Thus, efforts to have a uniform identification of patients with CHD using a single up-to-date and coordinated nomenclature system continue to be thwarted, even if a common nomenclature has been used as a basis for composing various "short lists". In an attempt to solve this problem, the International Nomenclature Society has linked its efforts with those of the World Health Organization to obtain a globally accepted nomenclature tree for CHD within the 11th iteration of the International Classification of Diseases (ICD-11). The International Nomenclature Society has submitted a hierarchical nomenclature tree for CHD to the World Health Organization that is expected to serve increasingly as the "short list" for all communities interested in coding for congenital cardiology. This article reviews the history of the International Classification of Diseases and of the IPCCC, and outlines the process used in developing the ICD-11 congenital cardiac disease diagnostic list and the definitions for each term on the list. An overview of the content of the congenital heart anomaly section of the Foundation Component of ICD-11, published herein in its entirety, is also included. Future plans for the International Nomenclature Society include linking again with the World Health Organization to tackle procedural nomenclature as it relates to cardiac malformations. By doing so, the Society will continue its role in standardising nomenclature for CHD across the globe, thereby promoting research and better outcomes for fetuses

  1. Digital video subtraction fluorography (DVSF) in the diagnosis of bronchial abnormality associated with congenital heart diseases

    International Nuclear Information System (INIS)

    Sano, Tetsuya; Arisawa, Jun; Nakajima, Toru

    1990-01-01

    To assess bronchial morphology and abnormality, 14 children with congenital heart diseases including 2 postoperative patients (age, 2 m.-4 yr) were studied by digital video subtraction fluorography (DVSF) using digital subtraction and image processing system (Philips, DVI-2). This newly developed technique clearly defined bronchial anatomy in all 14 patients. Bronchial situs could be determined in all 8 patients with complex heart anomalies. Out of 8 patients with respiratory distress in this study, obvious bronchial stenosis or obstruction was found by DVSF in 5 patients. Thus, DVSF image defined anatomies of main and lobar bronchi more clearly than previous noninvasive methods. Moreover, DVSF is noninvasive and easily performed even for small infants and critically ill patients. In conclusion, DVSF may be a useful technique to assess bronchial morphology and abnormality in patients with congenital heart diseases. (author)

  2. Are there any association between polycistic ovary syndrome and congenital abnormalities of Müllerian ducts.

    Science.gov (United States)

    Tubić-Pavlović, Aleksandra; Radović-Janosević, Dragana; Petrić, Aleksandra; Stefanović, Milan

    2014-06-01

    There are many specificities of merital infertility and sometimes surprising connections between some thinks with no connections at first sight. Examinations of these patients imply diagnostic actions such as the blood basal hormone sample, doing hysterosalpingography, ultrahysterosonography, ultrasound examinations, and sometimes laparoscopy and hysteroscopy if there are necessary. The aim of the study was to determine the characteristics of the connection between policystic ovary (PCO) syndrome (Sy) and congenital Müllerian ducts abnormalities. This study included 356 patients treated in the period from January 1, to December 31, 2009, in the Department of Infertility of the Clinic for Obstetrics and Gynecology in Nis, Serbia. Exclusion criteria were no myoma, ovary cysts, tubal and male factors of infertility. A total of 180 patients were divided into 3 groups: the group I with PCO sy, the group II with uterine congenital malformation and the group III with a combination of these disorders. The middle age of patients was 29.6 +/- 4.8, body mass index (BMI) was 26.1 +/- 4,8 kg/m2 the middle thicknes of endometrium was 5.2 + 2.7 mm, and there were no significant differences between the examined groups. There were no significant among in a number of miscarriages in the examined groups. We found that PCO Sy and congenital abnormalities of Müllerian ducts were conjoint in 30% of examined patients. Conjoined PCO Sy and congenital abnormalities of Müllerian ducts do not result in a higher number of miscarriages than only either PCO Sy or abnormalities of Müllerian ducts. It is important to check BMI, basal level of follicle stimulating hormone and number of antral follicles because the induction protocol and concentracion of inductors depends on these characteristics, thus, the succsessful cycles and pregnancy.

  3. Congenital and Adquired Abnormalities of Pediatric Trachea and Main-Steam Bronchi

    International Nuclear Information System (INIS)

    Vargas Bazurto, Maria Catalina; Varon, Humberto; Perez Alvarado, Maria Carolina; Puerta Ramirez, Andres Felipe; Ruales Fierro, Franco Libardo

    2011-01-01

    Tracheobronchial tree abnormalities can be first suspected in chest radiography; nonetheless, multidetector row computed tomography imaging constitutes a complementary diagnostic alternative for the evaluation of congenital and acquired tracheobronchial tree anomalies that allows the radiologist a closer approximation toward the correct diagnosis as well as the accurate description of its morphological features and differential diagnosis. We present a review of the main tracheobronchial tree pathology.

  4. Color vision abnormality as an initial presentation of the complete type of congenital stationary night blindness

    Directory of Open Access Journals (Sweden)

    Tan X

    2013-08-01

    Full Text Available Xue Tan, Aya Aoki, Yasuo YanagiDepartment of Ophthalmology, University of Tokyo School of Medicine, Hongo, Bunkyo-ku, Tokyo, JapanAbstract: Patients with the complete form of congenital stationary night blindness (CSNB often have reduced visual acuity, myopia, impaired night vision, and sometimes nystagmus and strabismus, however, they seldom complain of color vision abnormality. A 17-year-old male who was at technical school showed abnormalities in the color perception test for employment, and was referred to our hospital for a detailed examination. He had no family history of color vision deficiency and no other symptoms. During the initial examination, his best-corrected visual acuity was 1.2 in both eyes. His fundus showed no abnormalities except for somewhat yellowish reflex in the fovea of both eyes. Electroretinogram (ERG showed a good response in cone ERG and 30 Hz flicker ERG, however, the bright flash, mixed rod and cone ERG showed a negative type with a reduced b-wave (positive deflection. There was no response in the rod ERG, either. From the findings of the typical ERG, the patient was diagnosed with complete congenital stationary night blindness. This case underscores the importance of ERG in order to diagnose the cause of a color vision anomaly.Keywords: congenital stationary night blindness, CSNB, electroretinogram, ERG, color vision defect

  5. How can the process of postnatal adaptation be changed by the presence of congenital abnormalities of lip and palate

    Directory of Open Access Journals (Sweden)

    Brucknerová Ingrid

    2017-12-01

    Full Text Available Despite modern approaches in molecular biology and genetics, we are still not able to identify the actual cause in more than 50% of all congenital defects. One-half of the unidentified cases is referred to as “multifactorial”. Detailed prenatal investigation of the fetus can discover the presence of congenital abnormality, which can worsen the process of postnatal adaptation. Retrospective analysis of newborns admitted to the Neonatal Department of Intensive Medicine (NDIM in 2012-2016 with the aim to analyze how the process of postnatal adaptation can be changed by the presence of congenital abnormalities of lip and palate. During a five-year period, 13 newborns were admitted to NDIM (2 premature; 11 term newborns. Chromosomal abnormality was confirmed in one patient (Down syndrome and in one patient suspicion of Patau syndrome was found. Twelve newborns had complete cheilognathopalatoschisis. Two premature newborns and two term newborns had perinatal asphyxia. In this group of patients, 33% had respiratory insufficiency without the presence of congenital heart abnormality, 66% had congenital heart abnormality with respiratory insufficiency, and 2 patients had feeding problems. Only one patient had a positive family history. The diagnosis of complete cheilognathopalatoschisis was confirmed prenatally only in 9 patients. We confirmed that clinical consequences of congenital abnormalities of lip and palate depend on the nature, localization and range of abnormalities, as well as on the genetic background and accompanying congenital abnormalities. Prenatal confirmation of the presence of congenital abnormalities has an important influence on the postnatal management of a patient.

  6. Multi-modality imaging review of congenital abnormalities of kidney and upper urinary tract.

    Science.gov (United States)

    Ramanathan, Subramaniyan; Kumar, Devendra; Khanna, Maneesh; Al Heidous, Mahmoud; Sheikh, Adnan; Virmani, Vivek; Palaniappan, Yegu

    2016-02-28

    Congenital abnormalities of the kidney and urinary tract (CAKUT) include a wide range of abnormalities ranging from asymptomatic ectopic kidneys to life threatening renal agenesis (bilateral). Many of them are detected in the antenatal or immediate postnatal with a significant proportion identified in the adult population with varying degree of severity. CAKUT can be classified on embryological basis in to abnormalities in the renal parenchymal development, aberrant embryonic migration and abnormalities of the collecting system. Renal parenchymal abnormalities include multi cystic dysplastic kidneys, renal hypoplasia, number (agenesis or supernumerary), shape and cystic renal diseases. Aberrant embryonic migration encompasses abnormal location and fusion anomalies. Collecting system abnormalities include duplex kidneys and Pelvi ureteric junction obstruction. Ultrasonography (US) is typically the first imaging performed as it is easily available, non-invasive and radiation free used both antenatally and postnatally. Computed tomography (CT) and magnetic resonance imaging (MRI) are useful to confirm the ultrasound detected abnormality, detection of complex malformations, demonstration of collecting system and vascular anatomy and more importantly for early detection of complications like renal calculi, infection and malignancies. As CAKUT are one of the leading causes of end stage renal disease, it is important for the radiologists to be familiar with the varying imaging appearances of CAKUT on US, CT and MRI, thereby helping in prompt diagnosis and optimal management.

  7. Added value of three-dimensional ultrasound with STIC technology in the diagnosis of fetus with cardiac abnormalities

    International Nuclear Information System (INIS)

    Xie Hongning; Zhu Yunxiao; Lin Meifang; Li Lijuan; Wang Zilian; Shi Huijuan

    2010-01-01

    Objective: To evaluate the diagnostic accuracy of the spatio-temporal image correlation (STIC) technology of three- dimensional ultrasound (3DUS) for fetal congenital heart disease (CHD). Methods: The study was conducted in the First Affiliated Hospital of Sun Yat-sen University from January 2006 to October 2008. Twenty-four fetuses with suspected cardiac defects on routine 2DUS underwent STIC volume sweep. The diagnosis was confirmed by autopsy. Fetal cardiac STIC volume data set was analyzed by using the software of 4D View (GE, Kretztechnik). The concordance of' fetal cardiac defects diagnosed on 2DUS and STIC was compared to autopsy. Results: There were 92 cardiac defects in 24 cases. The overall concordance of various fetal cardiac defects diagnosed on STIC (97.8%) was significantly higher than that of 2DUS (64.1%) (P 0.05). However, concordance rate of STIC (100%, 100%, 97.5%) was significantly (P<0.05) higher than that of 2DUS (37.5%, 54.5%, 57.5%) for diagnosing anomalies of atrio-venous junction and ventriculo-arterial junction, arterial trunk and its branch. Conclusion: STIC technology of 3DUS may provide considerable diagnostic information for prenatal diagnosis of complex CHD, especially in abnormalities of atrio-venous junction, ventriculo-arterial junction, arterial trunk and its branches. (authors)

  8. Detection of chromosomal abnormalities, congenital abnormalities and transfusion syndrome in twins

    DEFF Research Database (Denmark)

    Sperling, L.; Kiil, C.; Larsen, Lene Unmack

    2007-01-01

    OBJECTIVE: To evaluate the outcome of screening for structural malformations in twins and the outcome of screening for twin-twin transfusion syndrome (TTTS) among monochorionic twins through a number of ultrasound scans from 12 weeks' gestation. METHODS: Enrolled into this prospective multicenter...... by assisted reproduction. The incidence of TTTS was 23% from 12 weeks until delivery, and all those monochorionic twin pregnancies that miscarried had signs of TTTS. CONCLUSION: Twin pregnancies have an increased risk of congenital malformations and one out of four monochorionic pregnancies develops TTTS....... Ultrasound screening to assess chorionicity and follow-up of monochorionic pregnancies to detect signs of TTTS, as well as malformation screening, are therefore essential in the antenatal care of twin pregnancies....

  9. Ocular abnormalities in congenital Zika syndrome: are the ophthalmoscopic findings "the top of the iceberg"?

    Science.gov (United States)

    de Oliveira Dias, João Rafael; Ventura, Camila V; de Paula Freitas, Bruno; Prazeres, Juliana; Ventura, Liana O; Bravo-Filho, Vasco; Aleman, Tomas; Ko, Albert Icksang; Zin, Andréa; Belfort, Rubens; Maia, Mauricio

    2018-04-23

    Zika virus (ZIKV) is an arbovirus mainly transmitted to humans by mosquitoes from Aedes genus. Other ways of transmission include the perinatal and sexual routes, blood transfusion, and laboratory exposure. Although the first human cases were registered in 1952 in African countries, outbreaks were only reported since 2007, when entire Pacific islands were affected. In March 2015, the first cases of ZIKV acute infection were notified in Brazil and, to date, 48 countries and territories in the Americas have confirmed local mosquito-borne transmission of ZIKV. Until 2015, ZIKV infection was thought to only cause asymptomatic or mild exanthematous febrile infections. However, after explosive ZIKV outbreaks in Polynesia and Latin American countries, it was confirmed that ZIKV could also lead to Guillain-Barré syndrome and congenital birth abnormalities. These abnormalities, which can include neurologic, ophthalmologic, audiologic, and skeletal findings, are now considered congenital Zika syndrome (CZS). Brain abnormalities in CZS include cerebral calcifications, malformations of cortical development, ventriculomegaly, lissencephaly, hypoplasia of the cerebellum and brainstem. The ocular findings, which are present in up to 70% of infants with CZS, include iris coloboma, lens subluxation, cataract, congenital glaucoma, and especially posterior segment findings. Loss of retinal pigment epithelium, the presence of a thin choroid, a perivascular choroidal inflammatory infiltrate, and atrophic changes within the optic nerve were seen in histologic analyses of eyes from deceased fetuses. To date, there is no ZIKV licensed vaccines or antiviral therapies are available for treatment. Preventive measures include individual protection from mosquito bites, control of mosquito populations and the use of barriers measures such as condoms during sexual intercourse or sexual abstinence for couples either at risk or after confirmed infection. A literature review based on studies that

  10. 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.

  11. Incidence and management of life-threatening adverse events during cardiac catheterization for congenital heart disease.

    Science.gov (United States)

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

    2014-01-01

    Continued advancements in congenital cardiac catheterization and interventions have resulted in increased patient and procedural complexity. Anticipation of life-threatening events and required rescue measures is a critical component to preprocedural preparation. We sought to determine the incidence and nature of life-threatening adverse events in congenital and pediatric cardiac catheterization, risk factors, and resources necessary to anticipate and manage events. Data from 8905 cases performed at the 8 participating institutions of the Congenital Cardiac Catheterization Project on Outcomes were captured between 2007 and 2010 [median 1,095/site (range 133-3,802)]. The incidence of all life-threatening events was 2.1 % [95 % confidence interval (CI) 1.8-2.4 %], whereas mortality was 0.28 % (95 % CI 0.18-0.41 %). Fifty-seven life-threatening events required cardiopulmonary resuscitation, whereas 9 % required extracorporeal membrane oxygenation. Use of a risk adjustment model showed that age events. Using this model, standardized life-threatening event ratios were calculated, thus showing that one institution had a life-threatening event rate greater than expected. Congenital cardiac catheterization and intervention can be performed safely with a low rate of life-threatening events and mortality; preprocedural evaluation of risk may optimize preparation of emergency rescue and bailout procedures. Risk predictors (age < 1, hemodynamic vulnerability, and procedure risk category) can enhance preprocedural patient risk stratification and planning.

  12. Color vision abnormality as an initial presentation of the complete type of congenital stationary night blindness.

    Science.gov (United States)

    Tan, Xue; Aoki, Aya; Yanagi, Yasuo

    2013-01-01

    Patients with the complete form of congenital stationary night blindness (CSNB) often have reduced visual acuity, myopia, impaired night vision, and sometimes nystagmus and strabismus, however, they seldom complain of color vision abnormality. A 17-year-old male who was at technical school showed abnormalities in the color perception test for employment, and was referred to our hospital for a detailed examination. He had no family history of color vision deficiency and no other symptoms. During the initial examination, his best-corrected visual acuity was 1.2 in both eyes. His fundus showed no abnormalities except for somewhat yellowish reflex in the fovea of both eyes. Electroretinogram (ERG) showed a good response in cone ERG and 30 Hz flicker ERG, however, the bright flash, mixed rod and cone ERG showed a negative type with a reduced b-wave (positive deflection). There was no response in the rod ERG, either. From the findings of the typical ERG, the patient was diagnosed with complete congenital stationary night blindness. This case underscores the importance of ERG in order to diagnose the cause of a color vision anomaly.

  13. Cardiac Complications of Fukuyama-Type Congenital Muscular Dystrophy

    Directory of Open Access Journals (Sweden)

    J Gordon Millichap

    2006-07-01

    Full Text Available The course of left ventricular function was evaluated using M-mode and Doppler echocardiography in 34 patients with Fukuyama-type congenital muscular dystrophy (FCMD, in a study at the Tokyo Women’s Medical University, Tokyo, Japan.

  14. 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.

  15. 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

  16. Thyroid abnormalities among first-degree relatives of children with congenital hypothyroidism: an ultrasound survey.

    Science.gov (United States)

    Adibi, Atoosa; Haghighi, Mahshid; Hosseini, Seyed Reza; Hashemipour, Mahin; Amini, Massoud; Hovsepian, Silva

    2008-01-01

    Congenital hypothyroidism (CH) is caused by thyroid dysgenesis and dyshormonogenesis. Evidence suggests the presence of genetic factors in both types of pathogenesis. We investigated whether an increased incidence of thyroid abnormalities could be shown by ultrasonography among first-degree relatives of children with CH. In this case-control study the presence of both developmental and non-developmental thyroid abnormalities was studied among first-degree relatives of CH patients and healthy children. Assessments included neck ultrasonography and thyroid function tests. The data obtained from parents, siblings and children were compared in the case and control groups. In the case group, 92 patients, 172 parents and 57 siblings, and in the control group, 82 healthy children, 160 parents and 39 siblings were studied. Thyroid developmental abnormalities were more prevalent among parents (3.5 vs. 0%, p = 0.03) and siblings (10.5 vs. 0, p = 0.01) of CH patients than the control group. Non-developmental abnormalities were not significantly different between the case and control groups (17 vs. 13%, p = 0.3). Thyroid developmental abnormalities were more prevalent among parents and siblings of CH patients than the control group, confirming the familial component of this entity. Copyright 2008 S. Karger AG, Basel.

  17. Trends in the utilization of computed tomography and cardiac catheterization among children with congenital heart disease.

    Science.gov (United States)

    Yang, Justin Cheng-Ta; Lin, Ming-Tai; Jaw, Fu-Shan; Chen, Shyh-Jye; Wang, Jou-Kou; Shih, Tiffany Ting-Fang; Wu, Mei-Hwan; Li, Yiu-Wah

    2015-11-01

    Pediatric cardiac computed tomography (CT) is a noninvasive imaging modality used to clearly demonstrate the anatomical detail of congenital heart diseases. We investigated the impact of cardiac CT on the utilization of cardiac catheterization among children with congenital heart disease. The study sample consisted of 2648 cardiac CT and 3814 cardiac catheterization from 1999 to 2009 for congenital heart diseases. Diagnoses were categorized into 11 disease groups. The numbers of examination, according to the different modalities, were compared using temporal trend analyses. The estimated effective radiation doses (mSv) of CT and catheterization were calculated and compared. The number of CT scans and interventional catheterizations had a slight annual increase of 1.2% and 2.7%, respectively, whereas that of diagnostic catheterization decreased by 6.2% per year. Disease groups fell into two categories according to utilization trend differences between CT and diagnostic catheterization. The increased use of CT reduces the need for diagnostic catheterization in patients with atrioventricular connection disorder, coronary arterial disorder, great vessel disorder, septal disorder, tetralogy of Fallot, and ventriculoarterial connection disorder. Clinicians choose either catheterization or CT, or both examinations, depending on clinical conditions, in patients with semilunar valvular disorder, heterotaxy, myocardial disorder, pericardial disorder, and pulmonary vein disorder. The radiation dose of CT was lower than that of diagnostic cardiac catheterization in all age groups. The use of noninvasive CT in children with selected heart conditions might reduce the use of diagnostic cardiac catheterization. This may release time and facilities within the catheterization laboratory to meet the increasing demand for cardiac interventions. Copyright © 2014. Published by Elsevier B.V.

  18. Abnormal Cardiac Autonomic Regulation in Mice Lacking ASIC3

    Directory of Open Access Journals (Sweden)

    Ching-Feng Cheng

    2014-01-01

    Full Text Available Integration of sympathetic and parasympathetic outflow is essential in maintaining normal cardiac autonomic function. Recent studies demonstrate that acid-sensing ion channel 3 (ASIC3 is a sensitive acid sensor for cardiac ischemia and prolonged mild acidification can open ASIC3 and evoke a sustained inward current that fires action potentials in cardiac sensory neurons. However, the physiological role of ASIC3 in cardiac autonomic regulation is not known. In this study, we elucidate the role of ASIC3 in cardiac autonomic function using Asic3−/− mice. Asic3−/− mice showed normal baseline heart rate and lower blood pressure as compared with their wild-type littermates. Heart rate variability analyses revealed imbalanced autonomic regulation, with decreased sympathetic function. Furthermore, Asic3−/− mice demonstrated a blunted response to isoproterenol-induced cardiac tachycardia and prolonged duration to recover to baseline heart rate. Moreover, quantitative RT-PCR analysis of gene expression in sensory ganglia and heart revealed that no gene compensation for muscarinic acetylcholines receptors and beta-adrenalin receptors were found in Asic3−/− mice. In summary, we unraveled an important role of ASIC3 in regulating cardiac autonomic function, whereby loss of ASIC3 alters the normal physiological response to ischemic stimuli, which reveals new implications for therapy in autonomic nervous system-related cardiovascular diseases.

  19. The portal vein in children: radiological review of congenital anomalies and acquired abnormalities

    Energy Technology Data Exchange (ETDEWEB)

    Corness, Jonathan A.G.; McHugh, Kieran; Roebuck, Derek J. [Great Ormond Street Hospital for Children, Department of Radiology, London (United Kingdom); Taylor, Andrew M. [Institute of Child Health, Cardiothoracic Unit, London (United Kingdom)

    2006-02-01

    A variety of portal vein anomalies that occur in children can be identified by US, CT, MRI and portal venography. Although these abnormalities can also occur in adults, there are certain pathological processes and aberrations within the portal system that are specific to children. Knowledge of the embryology and anatomy of the portal vein is of benefit in the understanding of these anomalies. Identifying deviations from normal portal architecture is important in the work-up for surgery such as liver transplantation, and prior to interventional procedures such as stent placement or embolization. The aim of this paper is to summarize the various types of congenital and acquired portal vein abnormalities that occur in children, describe their radiological features and provide images to demonstrate the differences from normal portal venous anatomy. (orig.)

  20. The portal vein in children: radiological review of congenital anomalies and acquired abnormalities

    International Nuclear Information System (INIS)

    Corness, Jonathan A.G.; McHugh, Kieran; Roebuck, Derek J.; Taylor, Andrew M.

    2006-01-01

    A variety of portal vein anomalies that occur in children can be identified by US, CT, MRI and portal venography. Although these abnormalities can also occur in adults, there are certain pathological processes and aberrations within the portal system that are specific to children. Knowledge of the embryology and anatomy of the portal vein is of benefit in the understanding of these anomalies. Identifying deviations from normal portal architecture is important in the work-up for surgery such as liver transplantation, and prior to interventional procedures such as stent placement or embolization. The aim of this paper is to summarize the various types of congenital and acquired portal vein abnormalities that occur in children, describe their radiological features and provide images to demonstrate the differences from normal portal venous anatomy. (orig.)

  1. Usefulness of cardiac 125I-metaiodobenzylguanidine uptake for evaluation of cardiac sympathetic nerve abnormalities in diabetic rats

    International Nuclear Information System (INIS)

    Abe, Nanami; Kashiwagi, Atsunori; Shigeta, Yukio

    1992-01-01

    We investigated cardiac sympathetic nerve abnormalities in streptozocin-induced diabetic rats using 125 I-metaiodobenzylguanidine (MIBG). The radioactivity ratio of cardiac tissue to 1 ml blood (H/B) was used as an index of cardiac MIBG uptake. Cardiac 125 I-MIBG uptake (H/B) in 4-, 8- and 20-wk diabetic rats was 48% lower than that in control rats. Similar results were obtained even when the data were corrected for g wet tissue weight. Although there was no improvement in H/B following 2-wk insulin treatment, the H/B ratio increased significantly, to 85% of control levels, following 4 wk insulin treatment indicating the reversibility of impaired MIBG uptake in diabetic rats. In vivo reserpine treatment resulted in a 50% reduction in the H/B value in control rats. However, the treatment did not significantly suppress uptake in diabetic rats. Cardiac norepinephrine content in both * 4- and ** 8-wk diabetic rats was significantly ( * p ** p 125 I-MIBG in diabetic rats is significantly impaired due to cardiac sympathetic nerve abnormalities. These abnormalities are reversible, however, dependent on the diabetic state. (author)

  2. 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.

  3. Vital endowments: Sir Charles Bell and the history of some congenital abnormalities of the upper limb.

    Science.gov (United States)

    Thurston, Alan

    2011-12-01

    Born in Edinburgh in 1774 Sir Charles Bell, as a young man, studied anatomy and surgery in his hometown. There followed a distinguished career that culminated in his becoming the first professor of Anatomy and Surgery at the College of Surgeons in London. Renowned as a brilliant neuroanatomist he was invited, on the advice of His Grace the Archbishop of Canterbury and the Bishop of London, to contribute one of eight volumes of a work on the Power Wisdom and Goodness of God as manifested in the Creation - known as the Bridgewater Treatises. 'The Hand its Mechanism and Vital Endowments as Evincing Design' was published in 1833 and it is an account of his considering the hand as a machine that has been engineered to exacting standards to interact with the environment in which we live. In it he expressed a deep understanding of the similarity of the structure of the upper limbs of the higher orders of animals. The similarity of the paddle of a turtle and a human hand with acrosymbrachydactyly is unmistakable. This congenital abnormality, given the eponymous title of Apert's syndrome, is one of a number of congenital abnormalities that have parallels in the animal kingdom. Others who have had similar syndromes named after them include Poland, Marfan, Streeter and a number of others. The life and times of these men and their contributions to medicine will be presented in this paper. © 2011 The Author. ANZ Journal of Surgery © 2011 Royal Australasian College of Surgeons.

  4. Abnormal topological organization of the white matter network in Mandarin speakers with congenital amusia.

    Science.gov (United States)

    Zhao, Yanxin; Chen, Xizhuo; Zhong, Suyu; Cui, Zaixu; Gong, Gaolang; Dong, Qi; Nan, Yun

    2016-05-23

    Congenital amusia is a neurogenetic disorder that mainly affects the processing of musical pitch. Brain imaging evidence indicates that it is associated with abnormal structural and functional connections in the fronto-temporal region. However, a holistic understanding of the anatomical topology underlying amusia is still lacking. Here, we used probabilistic diffusion tensor imaging tractography and graph theory to examine whole brain white matter structural connectivity in 31 Mandarin-speaking amusics and 24 age- and IQ-matched controls. Amusics showed significantly reduced global connectivity, as indicated by the abnormally decreased clustering coefficient (Cp) and increased normalized shortest path length (λ) compared to the controls. Moreover, amusics exhibited enhanced nodal strength in the right inferior parietal lobule relative to controls. The co-existence of the lexical tone deficits was associated with even more deteriorated global network efficiency in amusics, as suggested by the significant correlation between the increments in normalized shortest path length (λ) and the insensitivity in lexical tone perception. Our study is the first to reveal reduced global connectivity efficiency in amusics as well as an increase in the global connectivity cost due to the co-existed lexical tone deficits. Taken together these results provide a holistic perspective on the anatomical substrates underlying congenital amusia.

  5. 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.

  6. 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 (Pheart defects should also be considered for 22q11 microdeletion detection to evaluate fetal prognosis, particularly prior to surgery.

  7. Therapeutic Cardiac Catheterizations for Children with Congenital Heart Disease

    Science.gov (United States)

    ... communicate between arteries and veins. These abnormal vessels cause the heart to work harder than it needs to. They should be eliminated when possible. After Catheterization When your child arrives in the recovery area, he or she ...

  8. Tansig activation function (of MLP network) for cardiac abnormality detection

    Science.gov (United States)

    Adnan, Ja'afar; Daud, Nik Ghazali Nik; Ishak, Mohd Taufiq; Rizman, Zairi Ismael; Rahman, Muhammad Izzuddin Abd

    2018-02-01

    Heart abnormality often occurs regardless of gender, age and races. This problem sometimes does not show any symptoms and it can cause a sudden death to the patient. In general, heart abnormality is the irregular electrical activity of the heart. This paper attempts to develop a program that can detect heart abnormality activity through implementation of Multilayer Perceptron (MLP) network. A certain amount of data of the heartbeat signals from the electrocardiogram (ECG) will be used in this project to train the MLP network by using several training algorithms with Tansig activation function.

  9. Use of cephalosporins during pregnancy and in the presence of congenital abnormalities: a population-based, case-control study

    DEFF Research Database (Denmark)

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

    2001-01-01

    of cephalosporins, mainly oral cephalexin, in the case and patient control groups was explained by recall bias. The comparison of the occurrence of medically documented cephalosporin treatments during the second to third months of gestation (ie, the critical period for major congenital abnormalities) in different...... congenital abnormality groups with the referent data of the total population control group and the patient control group did not indicate a detectable human teratogenic potential of the studied drug. Conclusion: Treatment with the studied cephalosporins during pregnancy does not seem to present a detectable...

  10. Rationale and methodology of a collaborative learning project in congenital cardiac care.

    Science.gov (United States)

    Wolf, Michael J; Lee, Eva K; Nicolson, Susan C; Pearson, Gail D; Witte, Madolin K; Huckaby, Jeryl; Gaies, Michael; Shekerdemian, Lara S; Mahle, William T

    2016-04-01

    Collaborative learning is a technique through which individuals or teams learn together by capitalizing on one another's knowledge, skills, resources, experience, and ideas. Clinicians providing congenital cardiac care may benefit from collaborative learning given the complexity of the patient population and team approach to patient care. Industrial system engineers first performed broad-based time-motion and process analyses of congenital cardiac care programs at 5 Pediatric Heart Network core centers. Rotating multidisciplinary team site visits to each center were completed to facilitate deep learning and information exchange. Through monthly conference calls and an in-person meeting, we determined that duration of mechanical ventilation following infant cardiac surgery was one key variation that could impact a number of clinical outcomes. This was underscored by one participating center's practice of early extubation in the majority of its patients. A consensus clinical practice guideline using collaborative learning was developed and implemented by multidisciplinary teams from the same 5 centers. The 1-year prospective initiative was completed in May 2015, and data analysis is under way. Collaborative learning that uses multidisciplinary team site visits and information sharing allows for rapid structured fact-finding and dissemination of expertise among institutions. System modeling and machine learning approaches objectively identify and prioritize focused areas for guideline development. The collaborative learning framework can potentially be applied to other components of congenital cardiac care and provide a complement to randomized clinical trials as a method to rapidly inform and improve the care of children with congenital heart disease. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. N-Terminal Pro-B-Type Natriuretic Peptide and Phonocardiography in Differentiating Innocent Cardiac Murmurs from Congenital Cardiac Anomalies in Asymptomatic Puppies

    NARCIS (Netherlands)

    Marinus, S M; Engelen, H.G.H.; Szatmári, V.

    2017-01-01

    Background: Differentiating innocent cardiac murmurs from murmurs caused by congenital cardiac anomalies can be challenging with auscultation alone in asymptomatic puppies. Hypothesis: Plasma N-terminal pro-B-type natriuretic peptide (NT-proBNP) concentrations and phonocardiograms recorded by an

  12. Children with Congenital Hypothyroidism Have Similar Neuroradiological Abnormal Findings as Healthy Ones

    Directory of Open Access Journals (Sweden)

    Marianna Rachmiel

    2013-01-01

    Full Text Available Objective. To assess the neuroradiological findings of children with congenital hypothyroidism (CHT compared to healthy controls (HC. Patients and Methods. Thirty children with CHT, mean age 12.5 ± 1.6 years, 14 (44.8% males, were compared with 38 HC mean age 11.7 ± 1.7 years, 16 (45.7% males. Clinical data were collected from medical charts and questionnaires seeking information on family history, birth and perinatal period events, medications, and overall health history. Neurocognitive function was assessed for global intelligence, visual and verbal memory, and executive functioning using standardized tests. Neuroimaging was performed using 1.5 T magnetic resonance imaging and assessed by two pediatric radiologists. Results. Children with CHT had a similar proportion of incidental findings as did the children in the HC group, at 43.3% and 39.5%, respectively, . Abnormalities of the sellar region were reported in 13.3% of CHT group and 7.9% of HC group, . Other incidental findings included cerebellar ectopia, choroidal fissure and pineal cysts, and multiple increased signal intensity foci. Neuroradiological findings were not associated with clinical and neurocognitive abnormalities. Conclusion. Neuroimaging of children with CHT demonstrated a similar incidence of structural abnormalities as in the healthy population. There is no association between those findings and neurocognitive function.

  13. Abnormalities of the five serum ions in patients with Leber congenital amaurosis

    Directory of Open Access Journals (Sweden)

    Zhi-Zhong Wu

    2017-03-01

    Full Text Available AIM:To study the concentration changes of the serum magnesium, calcium, potassium, sodium and chloride ions of the patients of Leber congenital amaurosis(LCA.METHODS:Based on the retrospective study and the simple size in the statistics, 50 cases of LCA patients and 99 cases of normal people were tested the serum ions by professionals in hospital according to the single blind study. Data were analyzed statistically between LCA and normal groups. RESULTS: In the clinical serum ions test of LCA group, the concentration of calcium and potassium were 2.338±0.090mmol/L and 4.164±0.356mmol/L respectively, which were significantly higher than those of the normal group(all PPP>0.05. CONCLUSION: In the patients with LCA, abnormal concentration changes of magnesium, calcium and potassium will be needed to concern of the ophthalmologist, which is probably related with the occurrence of LCA.

  14. [HRCT imaging characterized of congenital abnormalities of the inner ear in 45 cases].

    Science.gov (United States)

    Wang, Jinling; Meng, Meijuan; Huan, Yi; Zhang, Jinsong

    2003-10-01

    To explore the high resolution CT (HRCT) image characterized of congenital abnormalities of the inner ear(CAIE), and its value in the diagnosis and treatment of CAIE. The clinic data and axial HRCT scans of CAIE in 45 cases were analyzed. In 45 CAIE patients, most of them were frequently associated with slowly progressive sensorineural hearing loss in childhood, 15 ears were fluctuating hearing loss. Seventeen ears were unilateral semicircular canal paralysis. HRCT showed that Michel type 3 cases(4 ears), Mondini type 25 cases(39 ears). Large vestibular aqueduct malformation not associated with anomalies of inner ears 13 cases(23 ears), anomalies of internal auditory canal 4 cases (5 ears). Thirteen ears were associated with outer and middle ear malformation. HRCT image has the important value in the diagnosis and treatment of CAIE, especially for the excerpt of indication of cochlear implantation.

  15. Congenital abnormality of the vagina complicated by haemato-pyocolpos in a 1-year labrador retriever.

    Science.gov (United States)

    Alonge, S; Romussi, S; Grieco, V; Luvoni, G C

    2015-06-01

    A 1-year-old female Labrador retriever was referred with a few days history of haematic-like vulvar discharge. Physical examination, vaginal inspection and palpation did not reveal any remarkable finding. Transabdominal ultrasound showed echogenic fluid accumulation in the vagina suggesting haemato-pyocolpos. An exploratory laparotomy was performed: a well-delimited ectasic vagina was identified. Ovariohysterectomy and partial vaginectomy and vaginoplasty were performed to spay the bitch and to remove the ectasic vagina. Post-operative recovery and 12-month follow-up were uneventful. Clinical, morphological and histological findings were consistent with a congenital abnormality of the muscular layer of the vagina complicated by haemato-pyocolpos. The disorganization of the vaginal tunica muscularis may have acted as locus minoris resistentiae in the vaginal wall. The organ was dilated and atonic due to the gradual accumulation of physiological fluids complicated by an overgrowth of genital bacteria. This congenital disorder has to be taken into account as differential diagnosis of haemato-pyocolpos with vaginal discharge in young bitches. © 2015 Blackwell Verlag GmbH.

  16. Surgical correction of congenital esotropia alternating and subsequent abnormal correspondence retinal: a case report

    Directory of Open Access Journals (Sweden)

    Luigi Mazzeo

    2015-10-01

    Full Text Available Introduction: Accomodative esotropia is secondary to inappropriate convergence during accomodative effort in an uncorrected hyperope and is often familial. Case presentation: we report the case of 20 year old Caucasian patient with congenital esotropia alternating, of 30 prism diopters distance (5 m and 40 prism diopters of esotropia at near, in both eyes. Measures: Was performed strabismus, in peribulbar anesthesia, the right medial rectus was cashed 3.0mm, the left medial rectus was collected 3.5 mm. Results: Immediately after surgery, the patient complained of intermittent diplopia, resolved with orthotic exercise which stimulated binocular vision, Conclusion: This case report suggests that the surgical correction strabismus, should be considered with due caution in the treatment of congenital esotropia alternating and branches, and in some clinical scenarios selected to avoid the complication of postoperative diplopia, that in the case report resolved so benign. After three months surgical treatmen, remains a small angle strabismus aesthetically acceptable, has not given double vision and remains abnormal retinal correspondence with orthotic exercise.

  17. CT and MR imaging of congenital abnormalities of the inner ear and internal auditory canal

    International Nuclear Information System (INIS)

    Casselman, Jan W.; Offeciers, Erwin F.; Foer, Bert de; Govaerts, Paul; Kuhweide, Rudy; Somers, Thomas

    2001-01-01

    The embryology of the inner ear must be known as many of the inner ear malformations present as a result of the arrest during the various stages of embryology. These malformations are described in this 'embryologic' perspective and specific names for certain malformations are no longer used. Both CT and MR can be used to look at inner ear malformations but often both techniques are complementary. However, CT is preferred when associated middle- or external ear malformations must be excluded. Magnetic resonance is preferred when subtle changes in the membranous labyrinth or abnormalities of the nerves in the internal auditory canal must be visualised. The CT and MR technique must however be adapted as more and more subtle congenital malformations can only be seen when the right technique is used. The heavily T2-weighted gradient-echo or fast spin-echo MR techniques are mandatory if malformations of the inner ear must be excluded. The purpose of this paper is to describe the techniques used to study these patients and to give an overview of the most frequent and important congenital malformations which can be found in the inner ear and internal auditory canal/cerebellopontine angle

  18. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

    NARCIS (Netherlands)

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A.; Greenlees, Ruth; Haeusler, Martin; Nelen, Vera; Garne, Ester; Khoshnood, Babak; Doray, Berenice; Rissmann, Anke; Mullaney, Carmel; Calzolari, Elisa; Bakker, Marian; Salvador, Joaquin; Addor, Marie-Claude; Draper, Elizabeth; Rankin, Judith; Tucker, David

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the

  19. Cardiac Abnormalities in Adult Patients With Polymyositis or Dermatomyositis as Assessed by Noninvasive Modalities

    DEFF Research Database (Denmark)

    Diederichsen, L P; Simonsen, J A; Diederichsen, A C

    2016-01-01

    age (P = 0.001), disease duration (P = 0.004), presence of myositis-specific or -associated autoantibodies (P = 0.05), and high cardiac (99m) Tc-PYP uptake (P = 0.006). In multivariate analysis of the pooled data for patients and HCs, a diagnosis of PM/DM (P .... CONCLUSION: Patients with PM or DM had an increased prevalence of cardiac abnormalities compared to HCs. LVDD was a common occurrence in PM/DM patients and correlated to disease duration. In addition, the association of LVDD with myositis-specific or -associated autoantibodies and high cardiac (99m) Tc...

  20. Abnormal expression of ephrin-A5 affects brain development of congenital hypothyroidism rats.

    Science.gov (United States)

    Suo, Guihai; Shen, Feifei; Sun, Baolan; Song, Honghua; Xu, Meiyu; Wu, Youjia

    2018-05-14

    EphA5 and its ligand ephrin-A5 interaction can trigger synaptogenesis during early hippocampus development. We have previously reported that abnormal EphA5 expression can result in synaptogenesis disorder in congenital hypothyroidism (CH) rats. To better understand its precise molecular mechanism, we further analyzed the characteristics of ephrin-A5 expression in the hippocampus of CH rats. Our study revealed that ephrin-A5 expression was downregulated by thyroid hormone deficiency in the developing hippocampus and hippocampal neurons in rats. Thyroxine treatment for hypothyroid hippocampus and triiodothyronine treatment for hypothyroid hippocampal neurons significantly improved ephrin-A5 expression but could not restore its expression to control levels. Hypothyroid hippocampal neurons in-vitro showed synaptogenesis disorder characterized by a reduction in the number and length of neurites. Furthermore, the synaptogenesis-associated molecular expressions of NMDAR-1 (NR1), PSD95 and CaMKII were all downregulated correspondingly. These results suggest that ephrin-A5 expression may be decreased in CH, and abnormal activation of ephrin-A5/EphA5 signaling affects synaptogenesis during brain development. Such findings provide an important basis for exploring the pathogenesis of CH genetically.

  1. Prenatal diagnosis of foetuses with congenital abnormalities and duplication of the MECP2 region.

    Science.gov (United States)

    Fu, Fang; Liu, Huan-ling; Li, Ru; Han, Jin; Yang, Xin; Min, Pan; Zhen, Li; Zhang, Yong-ling; Xie, Gui-e; Lei, Ting-ying; Li, Yan; Li, Jian; Li, Dong-zhi; Liao, Can

    2014-08-10

    MECP2 duplication results in a well-recognised syndrome in 100% of affected male children; this syndrome is characterised by severe neurodevelopmental disabilities and recurrent infections. However, no sonographic findings have been reported for affected foetuses, and prenatal molecular diagnosis has not been possible for this disease due to lack of prenatal clinical presentation. In this study, we identified a small duplication comprising the MECP2 and L1CAM genes in the Xq28 region in a patient from a family with severe X-linked mental retardation and in a prenatal foetus with brain structural abnormalities. Using high-resolution chromosome microarray analysis (CMA) to screen 108 foetuses with congenital structural abnormalities, we identified additional three foetuses with the MECP2 duplication. Our study indicates that ventriculomegaly, hydrocephalus, agenesis of the corpus callosum, choroid plexus cysts, foetal growth restriction and hydronephrosis might be common ultrasound findings in prenatal foetuses with the MECP2 duplication and provides the first set of prenatal cases with MECP2 duplication, the ultrasonographic phenotype described in these patients will help to recognise the foetuses with possible MECP2 duplication and prompt the appropriate molecular testing. Copyright © 2014 Elsevier B.V. All rights reserved.

  2. Learning From Experience: Improving Early Tracheal Extubation Success After Congenital Cardiac Surgery.

    Science.gov (United States)

    Winch, Peter D; Staudt, Anna M; Sebastian, Roby; Corridore, Marco; Tumin, Dmitry; Simsic, Janet; Galantowicz, Mark; Naguib, Aymen; Tobias, Joseph D

    2016-07-01

    The many advantages of early tracheal extubation following congenital cardiac surgery in young infants and children are now widely recognized. Benefits include avoiding the morbidity associated with prolonged intubation and the consequences of sedation and positive pressure ventilation in the setting of altered cardiopulmonary physiology. Our practice of tracheal extubation of young infants in the operating room following cardiac surgery has evolved and new challenges in the arena of postoperative sedation and pain management have appeared. Review our institutional outcomes associated with early tracheal extubation following congenital cardiac surgery. Inclusion criteria included all children less than 1 year old who underwent congenital cardiac surgery between October 1, 2010, and October 24, 2013. A total of 416 patients less than 1 year old were included. Of the 416 patients, 234 underwent tracheal extubation in the operating room (56%) with 25 requiring reintubation (10.7%), either immediately or following admission to the cardiothoracic ICU. Of the 25 patients extubated in the operating room who required reintubation, 22 failed within 24 hours of cardiothoracic ICU admission; 10 failures were directly related to narcotic doses that resulted in respiratory depression. As a result of this review, we have instituted changes in our cardiothoracic ICU postoperative care plans. We have developed a neonatal delirium score, and have adopted the "Kangaroo Care" approach that was first popularized in neonatal ICUs. This provision allows for the early parental holding of infants following admission to the cardiothoracic ICU and allows for appropriately selected parents to sleep in the same beds alongside their postoperative children.

  3. Predictors of missed appointments in patients referred for congenital or pediatric cardiac magnetic resonance

    Energy Technology Data Exchange (ETDEWEB)

    Lu, Jimmy C.; Dorfman, Adam L. [C.S. Mott Children' s Hospital, Department of Pediatrics and Communicable Diseases, Division of Pediatric Cardiology, University of Michigan Health System, University of Michigan Congenital Heart Center, Ann Arbor, MI (United States); C.S. Mott Children' s Hospital, Department of Radiology, University of Michigan Health System, Section of Pediatric Radiology, Ann Arbor, MI (United States); Lowery, Ray; Yu, Sunkyung [C.S. Mott Children' s Hospital, Department of Pediatrics and Communicable Diseases, Division of Pediatric Cardiology, University of Michigan Health System, University of Michigan Congenital Heart Center, Ann Arbor, MI (United States); Ghadimi Mahani, Maryam [C.S. Mott Children' s Hospital, Department of Radiology, University of Michigan Health System, Section of Pediatric Radiology, Ann Arbor, MI (United States); Agarwal, Prachi P. [University of Michigan Health System, Department of Radiology, Division of Cardiothoracic Radiology, Ann Arbor, MI (United States)

    2017-07-15

    Congenital cardiac magnetic resonance is a limited resource because of scanner and physician availability. Missed appointments decrease scheduling efficiency, have financial implications and represent missed care opportunities. To characterize the rate of missed appointments and identify modifiable predictors. This single-center retrospective study included all patients with outpatient congenital or pediatric cardiac MR appointments from Jan. 1, 2014, through Dec. 31, 2015. We identified missed appointments (no-shows or same-day cancellations) from the electronic medical record. We obtained demographic and clinical factors from the medical record and assessed socioeconomic factors by U.S. Census block data by patient ZIP code. Statistically significant variables (P<0.05) were included into a multivariable analysis. Of 795 outpatients (median age 18.5 years, interquartile range 13.4-27.1 years) referred for congenital cardiac MR, a total of 91 patients (11.4%) missed appointments; 28 (3.5%) missed multiple appointments. Reason for missed appointment could be identified in only 38 patients (42%), but of these, 28 (74%) were preventable or could have been identified prior to the appointment. In multivariable analysis, independent predictors of missed appointments were referral by a non-cardiologist (adjusted odds ratio [AOR] 5.8, P=0.0002), referral for research (AOR 3.6, P=0.01), having public insurance (AOR 2.1, P=0.004), and having scheduled cardiac MR from November to April (AOR 1.8, P=0.01). Demographic factors can identify patients at higher risk for missing appointments. These data may inform initiatives to limit missed appointments, such as targeted education of referring providers and patients. Further data are needed to evaluate the efficacy of potential interventions. (orig.)

  4. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    van Westrum, S. M. Schade; Hoogerwaard, E. M.; Dekker, L.; Standaar, T. S.; Bakker, E.; Ippel, P. F.; Oosterwijk, J. C.; Majoor-Krakauer, D. F.; van Essen, A. J.; Leschot, N. J.; Wilde, A. A. M.; de Haan, R. J.; de Visser, M.; van der Kooi, A. J.

    Objectives: Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The progress of these abnormalities during long-term follow-up is unknown. We describe the long-term follow-up of dilated

  5. Cardiac abnormalities in a follow-up study on carriers of Duchenne and Becker muscular dystrophy

    NARCIS (Netherlands)

    Schade van Westrum, S. M.; Hoogerwaard, E. M.; Dekker, L.; Standaar, T. S.; Bakker, E.; Ippel, P. F.; Oosterwijk, J. C.; Majoor-Krakauer, D. F.; van Essen, A. J.; Leschot, N. J.; Wilde, A. A. M.; de Haan, R. J.; de Visser, M.; van der Kooi, A. J.

    2011-01-01

    Objectives: Cardiac involvement has been reported in carriers of dystrophin mutations giving rise to Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD). The progress of these abnormalities during long-term follow-up is unknown. We describe the long-term follow-up of dilated

  6. Crack Cocaine-Induced Cardiac Conduction Abnormalities Are Reversed by Sodium Bicarbonate Infusion

    Directory of Open Access Journals (Sweden)

    Carlos Henrique Miranda

    2013-01-01

    Full Text Available We report a dramatic case of a 19-year-old man with crack cocaine overdose with important clinical complications as cardiac arrest due to ventricular fibrillation and epileptics status. During this intoxication, electrocardiographic abnormalities similar to those found in tricyclic antidepressant poisoning were observed, and they were reversed by intravenous sodium bicarbonate infusion.

  7. Congenital and hereditary causes of sudden cardiac death in young adults: diagnosis, differential diagnosis, and risk stratification.

    Science.gov (United States)

    Stojanovska, Jadranka; Garg, Anubhav; Patel, Smita; Melville, David M; Kazerooni, Ella A; Mueller, Gisela C

    2013-01-01

    Sudden cardiac death is defined as death from unexpected circulatory arrest-usually a result of cardiac arrhythmia-that occurs within 1 hour of the onset of symptoms. Proper and timely identification of individuals at risk for sudden cardiac death and the diagnosis of its predisposing conditions are vital. A careful history and physical examination, in addition to electrocardiography and cardiac imaging, are essential to identify conditions associated with sudden cardiac death. Among young adults (18-35 years), sudden cardiac death most commonly results from a previously undiagnosed congenital or hereditary condition, such as coronary artery anomalies and inherited cardiomyopathies (eg, hypertrophic cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy [ARVC], dilated cardiomyopathy, and noncompaction cardiomyopathy). Overall, the most common causes of sudden cardiac death in young adults are, in descending order of frequency, hypertrophic cardiomyopathy, coronary artery anomalies with an interarterial or intramural course, and ARVC. Often, sudden cardiac death is precipitated by ventricular tachycardia or fibrillation and may be prevented with an implantable cardioverter defibrillator (ICD). Risk stratification to determine the need for an ICD is challenging and involves imaging, particularly echocardiography and cardiac magnetic resonance (MR) imaging. Coronary artery anomalies, a diverse group of congenital disorders with a variable manifestation, may be depicted at coronary computed tomographic angiography or MR angiography. A thorough understanding of clinical risk stratification, imaging features, and complementary diagnostic tools for the evaluation of cardiac disorders that may lead to sudden cardiac death is essential to effectively use imaging to guide diagnosis and therapy.

  8. Predictors of successful early extubation following congenital cardiac surgery in neonates and infants.

    Science.gov (United States)

    Winch, Peter D; Nicholson, Lisa; Isaacs, Janet; Spanos, Steven; Olshove, Vincent; Naguib, Aymen

    2009-08-01

    There is a paucity of literature discussing the predictive likelihood of successfully extubating neonates and infants in the operating room immediately following congenital cardiac surgery. Given the unknown consequences of anaesthetics on neurodevelopmental outcomes, minimising the exposure of this population to such agents may have long-term benefits. Retrospective chart review of 391 patients less than 1 year of age. The probability of successfully extubating these patients was based on quantifiable, objective criteria. The relevant variables include age, weight, bypass time, lactate level and specific congenital anomaly. The practice of immediate extubation of infants and neonates is achievable, safe and predicted based on specific patient variables. This practice will minimise the anaesthetic exposure of these especially young patients who may be at risk for long-term consequences related to anaesthetic exposure.

  9. Congenital abnormalities and other birth outcomes in children born to women with ulcerative colitis in Denmark and Sweden.

    Science.gov (United States)

    Stephansson, Olof; Larsson, Heidi; Pedersen, Lars; Kieler, Helle; Granath, Fredrik; Ludvigsson, Jonas F; Falconer, Henrik; Ekbom, Anders; Sørensen, Henrik Toft; Nørgaard, Mette

    2011-03-01

    Studies of women with ulcerative colitis (UC) during pregnancy have reported increased risks of preterm delivery, growth restriction, and congenital malformation. However, the results are inconsistent due to inadequate study design and limitations in sample size. We performed a population-based prevalence study on 2637 primiparous women with a UC hospital diagnosis prior to delivery and 868,942 primiparous women with no UC diagnosis in Denmark and Sweden, 1994-2006. Logistic regression analysis was used to estimate relative risks for moderately (32-36 weeks) and very (before 32 weeks) preterm birth, 5-minute Apgar score congenital abnormalities. Maternal UC was associated with increased risk of moderately preterm birth (prevalence odds ratio [POR] 1.77, 95% confidence interval [CI]: 1.54-2.05), very preterm birth (POR 1.41, 95% CI: 1.02-1.96), cesarean section (POR 2.01, 95% CI: 1.84-2.19), and neonatal death (POR 1.93, 95% CI: 1.04-3.60). The strongest associations were observed for prelabor cesarean section (POR = 2.78, 95% CI: 2.38-3.25) and induced preterm delivery (POR 2.55, 95% CI: 1.95-3.33). There was a slightly increased risk of SGA birth (POR 1.27, 95% CI: 1.05-1.54). We found no association between UC and overall risk of congenital abnormalities (POR 1.05, 95% CI: 0.84-1.31) or specific congenital abnormalities. Risks for adverse birth outcomes were higher in women with previous UC-related surgery and hospital admissions. Women with UC have increased risks of preterm delivery, SGA-birth, neonatal death, and cesarean section but not congenital abnormalities. Adverse birth outcomes appeared correlated with UC disease severity. Copyright © 2010 Crohn's & Colitis Foundation of America, Inc.

  10. Profiles in congenital heart disease

    International Nuclear Information System (INIS)

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

    1986-01-01

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

  11. Neurodevelopmental Abnormalities and Congenital Heart Disease: Insights into Altered Brain Maturation

    Science.gov (United States)

    Morton, Paul D.; Ishibashi, Nobuyuki; Jonas, Richard A.

    2017-01-01

    In the past two decades it has become evident that individuals born with congenital heart disease (CHD) are at risk of developing life-long neurological deficits. Multifactorial risk factors contributing to neurodevelopmental abnormalities associated with CHD have been identified; however the underlying etiologies remain largely unknown and efforts to address this issue have only recently begun. There has been a dramatic shift in focus from newly acquired brain injuries associated with corrective and palliative heart surgery to antenatal and preoperative factors governing altered brain maturation in CHD. In this review, we describe key time windows of development during which the immature brain is vulnerable to injury. Special emphasis is placed on the dynamic nature of cellular events and how CHD may adversely impact the cellular units and networks necessary for proper cognitive and motor function. In addition, we describe current gaps in knowledge and offer perspectives about what can be done to improve our understanding of neurological deficits in CHD. Ultimately, a multidisciplinary approach will be essential in order to prevent or improve adverse neurodevelopmental outcomes in individuals surviving CHD. PMID:28302742

  12. A novel syndrome of abnormal striatum and congenital cataract: evidence for linkage to chromosomes 11.

    Science.gov (United States)

    Al-Owain, M; Al-Zahrani, J; Al-Bakheet, A; Abudheim, N; Al-Younes, B; Aldhalaan, H; Al-Zaidan, H; Colak, D; Almohaileb, F; Abouzied, M E; Al-Fadhli, F; Meyer, B; Kaya, N

    2013-09-01

    We report a consanguineous family of three girls and one boy affected with a novel syndrome involving the lens and the basal ganglia. The phenotype is strikingly similar between affected siblings with cognitive impairment, attention deficit hyperactivity disorder (ADHD), microcephaly, growth retardation, congenital cataract, and dystonia. The magnetic resonance imaging showed unusual pattern of swelling of the caudate heads and thinning of the putamina with severe degree of hypometabolism on the [18F] deoxyglucose positron emission tomography. Furthermore, the clinical assessment provides the evidence that the neurological phenotype is very slowly progressive. We utilized the 10K single-nucleotide polymorphism (SNP) microarray genotyping for linkage analysis. Genome-wide scan indicated a 45.9-Mb region with a 4.2353 logarithm of the odds score on chromosome 11. Affymetrix genome-wide human SNP array 6.0 assay did not show any gross chromosomal abnormality. Targeted sequencing of two candidate genes within the linkage interval (PAX6 and B3GALTL) as well as mtDNA genome sequencing did not reveal any putative mutations. © 2012 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  13. Congenital hydrocephalus and abnormal subcommissural organ development in Sox3 transgenic mice.

    Directory of Open Access Journals (Sweden)

    Kristie Lee

    Full Text Available Congenital hydrocephalus (CH is a life-threatening medical condition in which excessive accumulation of CSF leads to ventricular expansion and increased intracranial pressure. Stenosis (blockage of the Sylvian aqueduct (Aq; the narrow passageway that connects the third and fourth ventricles is a common form of CH in humans, although the genetic basis of this condition is unknown. Mouse models of CH indicate that Aq stenosis is associated with abnormal development of the subcommmissural organ (SCO a small secretory organ located at the dorsal midline of the caudal diencephalon. Glycoproteins secreted by the SCO generate Reissner's fibre (RF, a thread-like structure that descends into the Aq and is thought to maintain its patency. However, despite the importance of SCO function in CSF homeostasis, the genetic program that controls SCO development is poorly understood. Here, we show that the X-linked transcription factor SOX3 is expressed in the murine SCO throughout its development and in the mature organ. Importantly, overexpression of Sox3 in the dorsal diencephalic midline of transgenic mice induces CH via a dose-dependent mechanism. Histological, gene expression and cellular proliferation studies indicate that Sox3 overexpression disrupts the development of the SCO primordium through inhibition of diencephalic roof plate identity without inducing programmed cell death. This study provides further evidence that SCO function is essential for the prevention of hydrocephalus and indicates that overexpression of Sox3 in the dorsal midline alters progenitor cell differentiation in a dose-dependent manner.

  14. Fetal and neonatal mortality in patients with isolated congenital heart diseases and heart conditions associated with extracardiac abnormalities.

    Science.gov (United States)

    Marantz, Pablo; Sáenz Tejeira, M Mercedes; Peña, Gabriela; Segovia, Alejandra; Fustiñana, Carlos

    2013-10-01

    Congenital malformations are a known cause of intrauterine death; of them, congenital heart diseases (CHDs) are accountable for the highest fetal and neonatal mortality rates. They are strongly associated with other extracardiac malformations and an early fetal mortality. Two hundred and twenty fves cases of CHDs are presented. Of them, 155 were isolated CHDs (group A) and 70 were associated with extracardiac malformations, chromosomal disorders, or genetic syndromes (group B). The overall mortality in group B was higher than that observed in group A (p Heart diseases associated with extracardiac abnormalities had a higher mortality rate than isolated congenital heart diseases in the period up to 60 weeks of postmenstrual age (140 days post-term). No differences were observed between both groups of patients in terms of prenatal mortality.

  15. Steroid abnormalities and the developing brain: Declarative memory for emotionally arousing and neutral material in children with congenital adrenal hyperplasia

    OpenAIRE

    Maheu, Françoise S.; Merke, Deborah P.; Schroth, Elizabeth A.; Keil, Margaret F.; Hardin, Julie; Poeth, Kaitlin; Pine, Daniel S.; Ernst, Monique

    2007-01-01

    Steroid hormones modulate memory in animals and human adults. Little is known on the developmental effect of these hormones on the neural networks underlying memory. Using Congenital Adrenal Hyperplasia (CAH) as a naturalistic model of early steroid abnormalities, this study examines the consequences of CAH on memory and its neural correlates for emotionally arousing and neutral material in children. Seventeen patients with CAH and 17 age- and sex-matched healthy children (ages 12 to 14 years...

  16. Sedation and Anesthesia in Pediatric and Congenital Cardiac Catheterization: A Prospective Multicenter Experience.

    Science.gov (United States)

    Lin, C Huie; Desai, Sanyukta; Nicolas, Ramzi; Gauvreau, Kimberlee; Foerster, Susan; Sharma, Anshuman; Armsby, Laurie; Marshall, Audrey C; Odegard, Kirsten; DiNardo, James; Vincent, Julie; El-Said, Howaida; Spaeth, James; Goldstein, Bryan; Holzer, Ralf; Kreutzer, Jackie; Balzer, David; Bergersen, Lisa

    2015-10-01

    Sedation/anesthesia is critical to cardiac catheterization in the pediatric/congenital heart patient. We sought to identify current sedation/anesthesia practices, the serious adverse event rate related to airway, sedation, or anesthesia, and the rate of intra-procedural conversion from procedural sedation to the use of assisted ventilation or an artificial airway. Data from 13,611 patients who underwent catheterization at eight institutions were prospectively collected from 2007 to 2010. Ninety-four (0.69 %) serious sedation/airway-related adverse events occurred; events were more likely to occur in smaller patients (anesthesia, LMA, or tracheostomy, whereas 4232 (31 %) were managed with procedural sedation without an artificial airway, of which 75 (1.77 %) patients were converted to assisted ventilation/general anesthesia. Young age (risk procedure (category 4, OR 10.1, 95 % CI 6.5-15.6, p pediatric/congenital patients was associated with a low rate of serious sedation/airway-related adverse events. Smaller patients with non-cardiac comorbidities or low mixed venous oxygen saturation may be at higher risk. Patients under 1 year of age, undergoing high-risk procedures, or requiring continuous pressor/inotrope support may be at higher risk of requiring conversion from procedural sedation to assisted ventilation/general anesthesia.

  17. Three-dimensional modelling and three-dimensional printing in pediatric and congenital cardiac surgery.

    Science.gov (United States)

    Kiraly, Laszlo

    2018-04-01

    Three-dimensional (3D) modelling and printing methods greatly support advances in individualized medicine and surgery. In pediatric and congenital cardiac surgery, personalized imaging and 3D modelling presents with a range of advantages, e.g., better understanding of complex anatomy, interactivity and hands-on approach, possibility for preoperative surgical planning and virtual surgery, ability to assess expected results, and improved communication within the multidisciplinary team and with patients. 3D virtual and printed models often add important new anatomical findings and prompt alternative operative scenarios. For the lack of critical mass of evidence, controlled randomized trials, however, most of these general benefits remain anecdotal. For an individual surgical case-scenario, prior knowledge, preparedness and possibility of emulation are indispensable in raising patient-safety. It is advocated that added value of 3D printing in healthcare could be raised by establishment of a multidisciplinary centre of excellence (COE). Policymakers, research scientists, clinicians, as well as health care financers and local entrepreneurs should cooperate and communicate along a legal framework and established scientific guidelines for the clinical benefit of patients, and towards financial sustainability. It is expected that besides the proven utility of 3D printed patient-specific anatomical models, 3D printing will have a major role in pediatric and congenital cardiac surgery by providing individually customized implants and prostheses, especially in combination with evolving techniques of bioprinting.

  18. Clinical Databases and Registries in Congenital and Pediatric Cardiac Surgery, Cardiology, Critical Care, and Anesthesiology Worldwide.

    Science.gov (United States)

    Vener, David F; Gaies, Michael; Jacobs, Jeffrey P; Pasquali, Sara K

    2017-01-01

    The growth in large-scale data management capabilities and the successful care of patients with congenital heart defects have coincidentally paralleled each other for the last three decades, and participation in multicenter congenital heart disease databases and registries is now a fundamental component of cardiac care. This manuscript attempts for the first time to consolidate in one location all of the relevant databases worldwide, including target populations, specialties, Web sites, and participation information. Since at least 1,992 cardiac surgeons and cardiologists began leveraging this burgeoning technology to create multi-institutional data collections addressing a variety of specialties within this field. Pediatric heart diseases are particularly well suited to this methodology because each individual care location has access to only a relatively limited number of diagnoses and procedures in any given calendar year. Combining multiple institutions data therefore allows for a far more accurate contemporaneous assessment of treatment modalities and adverse outcomes. Additionally, the data can be used to develop outcome benchmarks by which individual institutions can measure their progress against the field as a whole and focus quality improvement efforts in a more directed fashion, and there is increasing utilization combining clinical research efforts within existing data structures. Efforts are ongoing to support better collaboration and integration across data sets, to improve efficiency, further the utility of the data collection infrastructure and information collected, and to enhance return on investment for participating institutions.

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

    Science.gov (United States)

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

    2017-09-01

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

  20. Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study.

    Directory of Open Access Journals (Sweden)

    Wen Miao

    Full Text Available To explore the possible brain structural and functional alterations in congenital fibrosis of extraocular muscles type 1 (CFEOM1 patients using multimodal MRI imaging.T1-weighted, diffusion tensor images and functional MRI data were obtained from 9 KIF21A positive patients and 19 age- and gender-matched healthy controls. Voxel based morphometry and tract based spatial statistics were applied to the T1-weighted and diffusion tensor images, respectively. Amplitude of low frequency fluctuations and regional homogeneity were used to process the functional MRI data. We then compared these multimodal characteristics between CFEOM1 patients and healthy controls.Compared with healthy controls, CFEOM1 patients demonstrated increased grey matter volume in bilateral frontal orbital cortex and in the right temporal pole. No diffusion indices changes were detected, indicating unaffected white matter microstructure. In addition, from resting state functional MRI data, trend of amplitude of low-frequency fluctuations increases were noted in the right inferior parietal lobe and in the right frontal cortex, and a trend of ReHo increase (p<0.001 uncorrected in the left precentral gyrus, left orbital frontal cortex, temporal pole and cingulate gyrus.CFEOM1 patients had structural and functional changes in grey matter, but the white matter was unaffected. These alterations in the brain may be due to the abnormality of extraocular muscles and their innervating nerves. Future studies should consider the possible correlations between brain morphological/functional findings and clinical data, especially pertaining to eye movements, to obtain more precise answers about the role of brain area changes and their functional consequence in CFEOM1.

  1. Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study.

    Science.gov (United States)

    Miao, Wen; Man, Fengyuan; Wu, Shaoqin; Lv, Bin; Wang, Zhenchang; Xian, Junfang; Sabel, Bernhard A; He, Huiguang; Jiao, Yonghong

    2015-01-01

    To explore the possible brain structural and functional alterations in congenital fibrosis of extraocular muscles type 1 (CFEOM1) patients using multimodal MRI imaging. T1-weighted, diffusion tensor images and functional MRI data were obtained from 9 KIF21A positive patients and 19 age- and gender-matched healthy controls. Voxel based morphometry and tract based spatial statistics were applied to the T1-weighted and diffusion tensor images, respectively. Amplitude of low frequency fluctuations and regional homogeneity were used to process the functional MRI data. We then compared these multimodal characteristics between CFEOM1 patients and healthy controls. Compared with healthy controls, CFEOM1 patients demonstrated increased grey matter volume in bilateral frontal orbital cortex and in the right temporal pole. No diffusion indices changes were detected, indicating unaffected white matter microstructure. In addition, from resting state functional MRI data, trend of amplitude of low-frequency fluctuations increases were noted in the right inferior parietal lobe and in the right frontal cortex, and a trend of ReHo increase (pleft precentral gyrus, left orbital frontal cortex, temporal pole and cingulate gyrus. CFEOM1 patients had structural and functional changes in grey matter, but the white matter was unaffected. These alterations in the brain may be due to the abnormality of extraocular muscles and their innervating nerves. Future studies should consider the possible correlations between brain morphological/functional findings and clinical data, especially pertaining to eye movements, to obtain more precise answers about the role of brain area changes and their functional consequence in CFEOM1.

  2. Brain Abnormalities in Congenital Fibrosis of the Extraocular Muscles Type 1: A Multimodal MRI Imaging Study

    Science.gov (United States)

    Wu, Shaoqin; Lv, Bin; Wang, Zhenchang; Xian, Junfang; Sabel, Bernhard A.; He, Huiguang; Jiao, Yonghong

    2015-01-01

    Purpose To explore the possible brain structural and functional alterations in congenital fibrosis of extraocular muscles type 1 (CFEOM1) patients using multimodal MRI imaging. Methods T1-weighted, diffusion tensor images and functional MRI data were obtained from 9 KIF21A positive patients and 19 age- and gender- matched healthy controls. Voxel based morphometry and tract based spatial statistics were applied to the T1-weighted and diffusion tensor images, respectively. Amplitude of low frequency fluctuations and regional homogeneity were used to process the functional MRI data. We then compared these multimodal characteristics between CFEOM1 patients and healthy controls. Results Compared with healthy controls, CFEOM1 patients demonstrated increased grey matter volume in bilateral frontal orbital cortex and in the right temporal pole. No diffusion indices changes were detected, indicating unaffected white matter microstructure. In addition, from resting state functional MRI data, trend of amplitude of low-frequency fluctuations increases were noted in the right inferior parietal lobe and in the right frontal cortex, and a trend of ReHo increase (pleft precentral gyrus, left orbital frontal cortex, temporal pole and cingulate gyrus. Conclusions CFEOM1 patients had structural and functional changes in grey matter, but the white matter was unaffected. These alterations in the brain may be due to the abnormality of extraocular muscles and their innervating nerves. Future studies should consider the possible correlations between brain morphological/functional findings and clinical data, especially pertaining to eye movements, to obtain more precise answers about the role of brain area changes and their functional consequence in CFEOM1. PMID:26186732

  3. Safety and observer variability of cardiac magnetic resonance imaging combined with low-dose dobutamine stress-testing in patients with complex congenital heart disease

    NARCIS (Netherlands)

    Robbers-Visser, D.; Luijnenburg, S.E.; Berg, J. van den; Roos-Hesselink, J.W.; Strengers, J.L.; Kapusta, L.; Moelker, A.; Helbing, W.A.

    2011-01-01

    BACKGROUND: In patients with complex congenital heart disease (CHD) abnormal ventricular stress responses have been reported with dobutamine stress cardiovascular magnetic resonance (DCMR). These abnormal stress responses are potential indicators of long-term outcome. However, safety and

  4. Outcome of cardiac surgery in patients with congenital heart disease in England between 1997 and 2015.

    Directory of Open Access Journals (Sweden)

    Aleksander Kempny

    Full Text Available The number of patients with congenital heart disease (CHD is increasing worldwide and most of them will require cardiac surgery, once or more, during their lifetime. The total volume of cardiac surgery in CHD patients at a national level and the associated mortality and predictors of death associated with surgery are not known. We aimed to investigate the surgical volume and associated mortality in CHD patients in England.Using a national hospital episode statistics database, we identified all CHD patients undergoing cardiac surgery in England between 1997 and 2015.We evaluated 57,293 patients (median age 11.9years, 46.7% being adult, 56.7% female. There was a linear increase in the number of operations performed per year from 1,717 in 1997 to 5,299 performed in 2014. The most common intervention at the last surgical event was an aortic valve procedure (9,276; 16.2%, followed by repair of atrial septal defect (9,154; 16.0%, ventricular septal defect (7,746; 13.5%, tetralogy of Fallot (3,523; 6.1% and atrioventricular septal defect (3,330; 5.8% repair. Associated mortality remained raised up to six months following cardiac surgery. Several parameters were predictive of post-operative mortality, including age, complexity of surgery, need for emergency surgery and socioeconomic status. The relationship of age with mortality was "U"-shaped, and mortality was highest amongst youngest children and adults above 60 years of age.The number of cardiac operations performed in CHD patients in England has been increasing, particularly in adults. Mortality remains raised up to 6-months after surgery and was highest amongst young children and seniors.

  5. Cardiac imaging : X-ray, magnetic resonance and ultrasound in congenital heart diseases

    International Nuclear Information System (INIS)

    Rigby, M.L.

    1991-01-01

    In many instances, the management of simple or common congenital cardiac anomalies, such as patient arterial duct, atrial septal defect or ventricular septal defect, can be based upon clinical evaluation, the chest radiograph and conventional transthoracic echocardiography and Doppler investigation. Angiography is usually required for those conditions, such as the tetralogy of Fallot, in which the size and anatomy of the pulmonary arteries influence the timing or the type of surgical intervention. Interventional cardiac catheterization, however, requires high quality X-ray screening and, frequently, transesophageal echocardiography. The investigation of more complex anomalies, such as those in hearts with a univentricular atrioventricular connection, often involves several methods of investigation. These complex anomalies require complete morphological and physiological assessment in order to provide optimum medical and surgical management. Increasingly, the diagnosis is established in utero. Should termination of pregnancy then be encouraged? Or, should all patients be subjected to an aggressive medical and surgical treatment regimen to optimize the chances of a later successful Fontan operation? Finally, what is the role of cardiac transplantation or the Norwood operation in those infants in whom the long term prognosis of conventional treatment is considered to be poor? (author). 20 refs.; 6 figs

  6. Serum Cytokines in Young Pediatric Patients with Congenital Cardiac Shunts and Altered Pulmonary Hemodynamics

    Directory of Open Access Journals (Sweden)

    Leína Zorzanelli

    2016-01-01

    Full Text Available Background and Objective. Inflammation is central in the pathogenesis of pulmonary hypertension. We investigated how serum cytokines correlate with clinical features, hemodynamics, and lung histology in young patients with pulmonary hypertension associated with congenital cardiac shunts. Design. Prospective, observational study. Methods and Results. Patients (n=44 were aged 2.6 to 37.6 months. Group I patients (n=31 were characterized by pulmonary congestion and higher pulmonary blood flow compared to group II (p=0.022, with no need for preoperative cardiac catheterization. Group II patients (n=13 had no congestive features. At catheterization, they had elevated pulmonary vascular resistance (5.7 [4.4–7.4] Wood units·m2, geometric mean with 95% CI. Cytokines were measured by chemiluminescence. Macrophage migration inhibitory factor (MIF was found to be inversely related to pulmonary blood flow (r=-0.33, p=0.026 and was higher in group II (high pulmonary vascular resistance compared to group I (high pulmonary blood flow (p=0.017. In contrast, RANTES chemokine (regulated on activation, normal T cell expressed and secreted was characteristically elevated in Group I (p=0.022. Interleukin 16 was also negatively related to pulmonary blood flow (rS=-0.33, p=0.029 and was higher in patients with obstructive vasculopathy at intraoperative lung biopsy (p=0.021. Conclusion. Cytokines seem to be important and differentially regulated in subpopulations of young patients with cardiac shunts.

  7. A multicentric study of disease-related stress, and perceived vulnerability, in parents of children with congenital cardiac disease

    NARCIS (Netherlands)

    Vrijmoet-Wiersma, C. M. Jantien; Ottenkamp, Jaap; van Roozendaal, Matty; Grootenhuis, Martha A.; Koopman, Hendrik M.

    2009-01-01

    Parents of children with congenitally malformed hearts can suffer from stress as a result of the medical condition of their child. In this cross-sectional study, we aimed to describe levels of parental stress, and perceived vulnerability, in parents of children who underwent major cardiac surgery,

  8. Effect of maternal age and cardiac disease severity on outcome of pregnancy in women with congenital heart disease.

    Science.gov (United States)

    Furenäs, Eva; Eriksson, Peter; Wennerholm, Ulla-Britt; Dellborg, Mikael

    2017-09-15

    There is an increasing prevalence of women with congenital heart defects reaching childbearing age. In western countries women tend to give birth at a higher age compared to some decades ago. We evaluated the CARdiac disease in PREGnancy (CARPREG) and modified World Health Organization (mWHO) risk classifications for cardiac complications during pregnancies in women with congenital heart defects and analyzed the impact of age on risk of obstetric and fetal outcome. A single-center observational study of cardiac, obstetric, and neonatal complications with data from cardiac and obstetric records of pregnancies in women with congenital heart disease. Outcomes of 496 pregnancies in 232 women, including induced abortion, miscarriage, stillbirth, and live birth were analyzed regarding complications, maternal age, mode of delivery, and two risk classifications: CARPREG and mWHO. There were 28 induced abortions, 59 fetal loss, 409 deliveries with 412 neonates. Cardiac (14%), obstetric (14%), and neonatal (15%) complications were noted, including one maternal death and five stillbirths. The rate of cesarean section was 19%. Age above 35years was of borderline importance for cardiac complications (p=0.054) and was not a significant additional risk factor for obstetric or neonatal complications. Both risk classifications had moderate clinical utility, with area under the curve (AUC) 0.71 for CARPREG and 0.65 for mWHO on cardiac complications. Pregnancy complications in women with congenital heart disease are common but severe complications are rare. Advanced maternal age does not seem to affect complication rate. Existing risk classification systems are insufficient in predicting complications. Copyright © 2017 Elsevier B.V. All rights reserved.

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

    International Nuclear Information System (INIS)

    Laya, Bernard F.; Goske, Marilyn J.; Morrison, Stuart; Reid, Janet R.; Swischuck, Leonard; Ey, Elizabeth H.; Murphy, Daniel J.; Lieber, Michael; Obuchowski, Nancy

    2006-01-01

    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.)

  10. Lung hypoplasia and its associated major congenital abnormalities in perinatal death: an autopsy study of 850 cases.

    Science.gov (United States)

    Aghabiklooei, A; Goodarzi, P; Kariminejad, Mohammad H

    2009-11-01

    To determine the relative frequency of causes of lung hypoplasia (LH) and its associated congenital malformations among perinatal deaths. 850 medical reports of perinatal autopsies, in a 25-year period, assessed for LH as a cause of death. LH found in 96 (11.3%) cases, 89 (92.7%) were associated with major congenital malformation (secondary type) and primary type was seen in 7 cases (7.3%). Fourteen cases were associated with multiple congenital anomalies. 32 cases (33.3%) with Genito-urinary anomalies were the most common associated major malformations, followed by 19 cases (19.8%) of diaphragmatic impairment, 15 cases (15.6%) of musculoskeletal abnormalities and 11 cases (11.4%) of kidney agenesis. The most common musculoskletal abnormality was thanatophoric dwarfism in 10 cases (10.4%). Meckle-Gruber syndrome with 7 affected fetuses (7.3%) was the most common malformation syndrome associated with LH. More than ninety percent of LH was secondary to pathology outside the respiratory tract. Renal agenesis is the most common association observed in LH, followed by diaphragmatic hernia and thanatophoric dysplasia.

  11. X-ray diagnosis and treatment for severe respiratory complications during cardiac catheterizations on pediatric congenital heart disease

    International Nuclear Information System (INIS)

    Wang Cheng; Zhao Shihua; Jiang Shiliang; Huang Lianjun; Xu Zhongying; Ling Jian; Zheng Hong; Xie Ruolan; Lu Minjie

    2005-01-01

    Objective: To study the radiological features of severe respiratory complications during cardiac catheterizations on pediatric congenital heart disease so as to make early diagnosis and treatment. We also intend to find the mechanism of these complications. Methods: A total of 9 pediatric cases with severe respiratory complications during cardiac catheterizations were included in the study. The clinical manifestations, radiological features, and corresponding treatments were reviewed. Results: Most of the cases had severe hypoxia, with 6 cases presenting with bradycardia. Opacification of two lung fields was found in 7 cases, pulmonary edema in 1 case, and atelectasis of the upper right lung in 1 case. With intubation, oxygen inhalation and administration of certain drugs, all cases were saved except 1 case with pulmonary edema. Conclusion: Severe respiratory complications during cardiac catheterizations on pediatric congenital heart disease are emergent and critical, and they often presented with various manifestations. Early diagnosis and correct treatment are the key to successful salvage. (authors)

  12. A ferromagnetic surgical system reduces phrenic nerve injury in redo congenital cardiac surgery.

    Science.gov (United States)

    Shinkawa, Takeshi; Holloway, Jessica; Tang, Xinyu; Gossett, Jeffrey M; Imamura, Michiaki

    2017-05-01

    A ferromagnetic surgical system (FMwand®) is a new type of dissection device expected to reduce the risk of adjacent tissue damage. We reviewed 426 congenital cardiac operations with cardiopulmonary bypass through redo sternotomy to assess if this device prevented phrenic nerve injury. The ferromagnetic surgical system was used in 203 operations (47.7%) with regular electrocautery and scissors. The preoperative and operative details were similar between the operations with or without the ferromagnetic surgical system. The incidence of phrenic nerve injury was significantly lower with the ferromagnetic surgical system (0% vs 2.7%, P = 0.031). A logistic regression model showed that the use of the ferromagnetic surgical system was significantly associated with reduced odds of phrenic nerve injury (P < 0.001). © The Author 2017. Published by Oxford University Press on behalf of the European Association for Cardio-Thoracic Surgery. All rights reserved.

  13. Recent advances in cardiac catheterization for congenital heart disease [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Sok-Leng Kang

    2018-03-01

    Full Text Available The field of pediatric and adult congenital cardiac catheterization has evolved rapidly in recent years. This review will focus on some of the newer endovascular technological and management strategies now being applied in the pediatric interventional laboratory. Emerging imaging techniques such as three-dimensional (3D rotational angiography, multi-modal image fusion, 3D printing, and holographic imaging have the potential to enhance our understanding of complex congenital heart lesions for diagnostic or interventional purposes. While fluoroscopy and standard angiography remain procedural cornerstones, improved equipment design has allowed for effective radiation exposure reduction strategies. Innovations in device design and implantation techniques have enabled the application of percutaneous therapies in a wider range of patients, especially those with prohibitive surgical risk. For example, there is growing experience in transcatheter duct occlusion in symptomatic low-weight or premature infants and stent implantation into the right ventricular outflow tract or arterial duct in cyanotic neonates with duct-dependent pulmonary circulations. The application of percutaneous pulmonary valve implantation has been extended to a broader patient population with dysfunctional ‘native’ right ventricular outflow tracts and has spurred the development of novel techniques and devices to solve associated anatomic challenges. Finally, hybrid strategies, combining cardiosurgical and interventional approaches, have enhanced our capabilities to provide care for those with the most complex of lesions while optimizing efficacy and safety.

  14. [Nosocomial infections after cardiac surgery in infants and children with congenital heart disease].

    Science.gov (United States)

    Barriga, José; Cerda, Jaime; Abarca, Katia; Ferrés, Marcela; Fajuri, Paula; Riquelme, María; Carrillo, Diego; Clavería, Cristián

    2014-02-01

    Nosocomial infections generate high morbidity and mortality in children undergoing cardiac surgery. To determine risk factors for nosocomial infections in children after congenital heart surgery. A retrospective case-control study, in patients younger than 15 years undergoing surgery for congenital heart disease from January 2007 to December 2011 admitted to the Pediatric Critical Patient Unit (UPC-P) in a university hospital. For cases, the information was analyzed from the first episode of infection. 39 patients who develop infections and 39 controls who did not develop infection were enrolled. The median age of cases was 2 months. We identified a number of factors associated with the occurrence of infections, highlighting in univariate analysis: age, weight, univentricular heart physiology, complexity of the surgical procedure according to RACHS-1 and cardiopulmonary bypass (CPB) time ≥ 200 minutes. Multivariate analysis identified CPB time ≥ 200 minutes as the major risk factor, with an OR of 11.57 (CI: 1.04 to 128.5). CPB time ≥ 200 minutes was the mayor risk factor associated with the development of nosocomial infections.

  15. Zika Virus Infection as a Cause of Congenital Brain Abnormalities and Guillain–Barré Syndrome: Systematic Review

    Science.gov (United States)

    Reveiz, Ludovic; Oladapo, Olufemi T.; Martínez-Vega, Ruth; Haefliger, Anina

    2017-01-01

    Background The World Health Organization (WHO) stated in March 2016 that there was scientific consensus that the mosquito-borne Zika virus was a cause of the neurological disorder Guillain–Barré syndrome (GBS) and of microcephaly and other congenital brain abnormalities based on rapid evidence assessments. Decisions about causality require systematic assessment to guide public health actions. The objectives of this study were to update and reassess the evidence for causality through a rapid and systematic review about links between Zika virus infection and (a) congenital brain abnormalities, including microcephaly, in the foetuses and offspring of pregnant women and (b) GBS in any population, and to describe the process and outcomes of an expert assessment of the evidence about causality. Methods and Findings The study had three linked components. First, in February 2016, we developed a causality framework that defined questions about the relationship between Zika virus infection and each of the two clinical outcomes in ten dimensions: temporality, biological plausibility, strength of association, alternative explanations, cessation, dose–response relationship, animal experiments, analogy, specificity, and consistency. Second, we did a systematic review (protocol number CRD42016036693). We searched multiple online sources up to May 30, 2016 to find studies that directly addressed either outcome and any causality dimension, used methods to expedite study selection, data extraction, and quality assessment, and summarised evidence descriptively. Third, WHO convened a multidisciplinary panel of experts who assessed the review findings and reached consensus statements to update the WHO position on causality. We found 1,091 unique items up to May 30, 2016. For congenital brain abnormalities, including microcephaly, we included 72 items; for eight of ten causality dimensions (all except dose–response relationship and specificity), we found that more than half the

  16. Zika Virus Infection as a Cause of Congenital Brain Abnormalities and Guillain-Barré Syndrome: Systematic Review.

    Science.gov (United States)

    Krauer, Fabienne; Riesen, Maurane; Reveiz, Ludovic; Oladapo, Olufemi T; Martínez-Vega, Ruth; Porgo, Teegwendé V; Haefliger, Anina; Broutet, Nathalie J; Low, Nicola

    2017-01-01

    The World Health Organization (WHO) stated in March 2016 that there was scientific consensus that the mosquito-borne Zika virus was a cause of the neurological disorder Guillain-Barré syndrome (GBS) and of microcephaly and other congenital brain abnormalities based on rapid evidence assessments. Decisions about causality require systematic assessment to guide public health actions. The objectives of this study were to update and reassess the evidence for causality through a rapid and systematic review about links between Zika virus infection and (a) congenital brain abnormalities, including microcephaly, in the foetuses and offspring of pregnant women and (b) GBS in any population, and to describe the process and outcomes of an expert assessment of the evidence about causality. The study had three linked components. First, in February 2016, we developed a causality framework that defined questions about the relationship between Zika virus infection and each of the two clinical outcomes in ten dimensions: temporality, biological plausibility, strength of association, alternative explanations, cessation, dose-response relationship, animal experiments, analogy, specificity, and consistency. Second, we did a systematic review (protocol number CRD42016036693). We searched multiple online sources up to May 30, 2016 to find studies that directly addressed either outcome and any causality dimension, used methods to expedite study selection, data extraction, and quality assessment, and summarised evidence descriptively. Third, WHO convened a multidisciplinary panel of experts who assessed the review findings and reached consensus statements to update the WHO position on causality. We found 1,091 unique items up to May 30, 2016. For congenital brain abnormalities, including microcephaly, we included 72 items; for eight of ten causality dimensions (all except dose-response relationship and specificity), we found that more than half the relevant studies supported a causal

  17. Zika Virus Infection as a Cause of Congenital Brain Abnormalities and Guillain-Barré Syndrome: Systematic Review.

    Directory of Open Access Journals (Sweden)

    Fabienne Krauer

    2017-01-01

    Full Text Available The World Health Organization (WHO stated in March 2016 that there was scientific consensus that the mosquito-borne Zika virus was a cause of the neurological disorder Guillain-Barré syndrome (GBS and of microcephaly and other congenital brain abnormalities based on rapid evidence assessments. Decisions about causality require systematic assessment to guide public health actions. The objectives of this study were to update and reassess the evidence for causality through a rapid and systematic review about links between Zika virus infection and (a congenital brain abnormalities, including microcephaly, in the foetuses and offspring of pregnant women and (b GBS in any population, and to describe the process and outcomes of an expert assessment of the evidence about causality.The study had three linked components. First, in February 2016, we developed a causality framework that defined questions about the relationship between Zika virus infection and each of the two clinical outcomes in ten dimensions: temporality, biological plausibility, strength of association, alternative explanations, cessation, dose-response relationship, animal experiments, analogy, specificity, and consistency. Second, we did a systematic review (protocol number CRD42016036693. We searched multiple online sources up to May 30, 2016 to find studies that directly addressed either outcome and any causality dimension, used methods to expedite study selection, data extraction, and quality assessment, and summarised evidence descriptively. Third, WHO convened a multidisciplinary panel of experts who assessed the review findings and reached consensus statements to update the WHO position on causality. We found 1,091 unique items up to May 30, 2016. For congenital brain abnormalities, including microcephaly, we included 72 items; for eight of ten causality dimensions (all except dose-response relationship and specificity, we found that more than half the relevant studies supported

  18. Rare chromosome abnormalities, prevalence and prenatal diagnosis rates from population-based congenital anomaly registers in Europe

    DEFF Research Database (Denmark)

    Wellesley, Diana; Dolk, Helen; Boyd, Patricia A

    2012-01-01

    The aim of this study is to quantify the prevalence and types of rare chromosome abnormalities (RCAs) in Europe for 2000-2006 inclusive, and to describe prenatal diagnosis rates and pregnancy outcome. Data held by the European Surveillance of Congenital Anomalies database were analysed on all the...... currently requiring specialised genetic counselling services in the perinatal period for these conditions and, for some, long-term care.European Journal of Human Genetics advance online publication, 11 January 2012; doi:10.1038/ejhg.2011.246....

  19. A Novel Role for CSRP1 in a Lebanese Family with Congenital Cardiac Defects

    Directory of Open Access Journals (Sweden)

    Amina Kamar

    2017-12-01

    Full Text Available Despite an obvious role for consanguinity in congenital heart disease (CHD, most studies fail to document a monogenic model of inheritance except for few cases. We hereby describe a first-degree cousins consanguineous Lebanese family with 7 conceived children: 2 died in utero of unknown causes, 3 have CHD, and 4 have polydactyly. The aim of the study is to unveil the genetic variant(s causing these phenotypes using next generation sequencing (NGS technology. Targeted exome sequencing identified a heterozygous duplication in CSRP1 which leads to a potential frameshift mutation at position 154 of the protein. This mutation is inherited from the father, and segregates only with the CHD phenotype. The in vitro characterization demonstrates that the mutation dramatically abrogates its transcriptional activity over cardiac promoters like NPPA. In addition, it differentially inhibits the physical association of CSRP1 with SRF, GATA4, and with the newly described partner herein TBX5. Whole exome sequencing failed to show any potential variant linked to polydactyly, but revealed a novel missense mutation in TRPS1. This mutation is inherited from the healthy mother, and segregating only with the cardiac phenotype. Both TRPS1 and CSRP1 physically interact, and the mutations in each abrogate their partnership. Our findings add fundamental knowledge into the molecular basis of CHD, and propose the di-genic model of inheritance as responsible for such malformations.

  20. 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.

  1. Dynamic three-dimensional display of common congenital cardiac defects from reconstruction of two-dimensional echocardiographic images.

    Science.gov (United States)

    Hsieh, K S; Lin, C C; Liu, W S; Chen, F L

    1996-01-01

    Two-dimensional echocardiography had long been a standard diagnostic modality for congenital heart disease. Further attempts of three-dimensional reconstruction using two-dimensional echocardiographic images to visualize stereotypic structure of cardiac lesions have been successful only recently. So far only very few studies have been done to display three-dimensional anatomy of the heart through two-dimensional image acquisition because such complex procedures were involved. This study introduced a recently developed image acquisition and processing system for dynamic three-dimensional visualization of various congenital cardiac lesions. From December 1994 to April 1995, 35 cases were selected in the Echo Laboratory here from about 3000 Echo examinations completed. Each image was acquired on-line with specially designed high resolution image grazmber with EKG and respiratory gating technique. Off-line image processing using a window-architectured interactive software package includes construction of 2-D ehcocardiographic pixel to 3-D "voxel" with conversion of orthogonal to rotatory axial system, interpolation, extraction of region of interest, segmentation, shading and, finally, 3D rendering. Three-dimensional anatomy of various congenital cardiac defects was shown, including four cases with ventricular septal defects, two cases with atrial septal defects, and two cases with aortic stenosis. Dynamic reconstruction of a "beating heart" is recorded as vedio tape with video interface. The potential application of 3D display of the reconstruction from 2D echocardiographic images for the diagnosis of various congenital heart defects has been shown. The 3D display was able to improve the diagnostic ability of echocardiography, and clear-cut display of the various congenital cardiac defects and vavular stenosis could be demonstrated. Reinforcement of current techniques will expand future application of 3D display of conventional 2D images.

  2. Magnetic resonance imaging in familial hypertrophic cardiomyopathy associated with abnormal thallium perfusion and cardiac enzymes

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    Nishimura, Tsunehiko; Nagata, Seiki; Sakakibara, Hiroshi

    1988-05-01

    Gated magnetic resonance imaging (MRI) was performed in 6 patients with familial hypertrophic cardiomyopathy associated with abnormal thallium perfusion, and 12 patients with ordinary hypertrophic cardiomyopathy. The patients with ordinary hypertrophic cardiomyopathy and abnormal thickening of the septal wall and normal left ventricular dimensions, while the patients with familial hypertrophic cardiomyopathy had focal wall thinning (usually involving the apical-septal wall) and dilated left ventricle in addition to hypertrophied heart. The quantitative measurement for cardiac dimensions using MRI was similar to that found on echocardiography in all cases. In addition, inhomogeneous signal intensities at left ventricular wall were observed in 3 cases of familial hypertrophic cardiomyopathy, which may suggest the existence of myocardial fibrosis. Gated MRI should be performed for early detection and follow-up of hypertrophic cardiomyopathy, since some patients will progress from hypertrophic cardiomyopathy to dilated cardiomyopathy.

  3. Has the prevalence of congenital abnormalities after intracytoplasmic sperm injection increased? The Leuven data 1994-2000 and a review of the literature.

    Science.gov (United States)

    Hindryckx, An; Peeraer, Karen; Debrock, Sophie; Legius, Eric; de Zegher, Francis; Francois, Inge; Vanderschueren, Dirk; Demyttenaere, Koen; Rijkers, Anna; D'Hooghe, Thomas

    2010-01-01

    Although intracytoplasmic sperm injection (ICSI) is now accepted as the treatment of choice for severe male infertility, concerns about its safety and the potential risks for the offspring remain. We reviewed the literature with respect to the prevalence of major congenital malformations after the ICSI technique and supplemented these data with the results of a prospective follow-up study performed in our center. From January 1994 till June 2000, 776 ICSI cycles were carried out at the Leuven University Fertility Center. The resulting pregnancies (n = 172) were followed for biochemical and obstetrical parameters, prenatal diagnosis and congenital abnormalities. A total of 134/172 (78%) ongoing pregnancies resulted in 132 deliveries of 166 live born children. Two terminations of pregnancy were carried out due to the presence of major congenital anomalies, diagnosed at prenatal ultrasound. Prenatal diagnosis was carried out in 55 fetuses. Two de novo chromosomal aberrations were found. Major congenital abnormalities were observed at birth in 9/150 (6.0%) children. The total malformation rate was 6.5%. The prevalence of congenital abnormalities in children born after ICSI in our center (6.5%) was comparable to the prevalence of congenital abnormalities after ICSI reported in the literature. Copyright (c) 2010 S. Karger AG, Basel.

  4. Maternal urinary tract infection and related drug treatments during pregnancy and risk of congenital abnormalities in the offspring.

    Science.gov (United States)

    Bánhidy, F; Acs, N; Puhó, E H; Czeizel, A E

    2006-12-01

    The association between urinary tract infection (UTI) of pregnant women and preterm birth/low birthweight is known, but the possible association between UTI and congenital abnormalities (CAs) was evaluated rarely. Only one study showed an association with atrial septal defect, thus we decided to check this possible association. The population-based large data set of the Hungarian Case-Control Surveillance of Congenital Abnormalities (HCCSCA); most maternal UTIs were based on medically recorded data. SETTING The HCCSCA, 1980-1996, contained 22 843 newborns or fetuses with CAs and 38 151 matched controls, i.e. newborn infants without any HCAs. Hungarian informative offspring: live births, stillbirths and prenatally diagnosed malformed fetuses. Case-control pair analysis. Twenty-five CA groups. A total of 1542 (6.75%) mothers in the case group had UTI during entire pregnancy compared with 2188 (5.74%) mothers in the control group (adjusted prevalence odds ratios [POR] with 95% CI: 1.15, 1.06-1.24). We did not find a higher prevalence of UTI during the second and/or third months of pregnancy in total case group (adjusted POR with 95% CI: 1.1, 0.9-1.2) and in any group of CAs including atrial septal defect type II. No evidence for the teratogenic effect of maternal UTI and related drug treatments during early pregnancy.

  5. Do thallium myocardial perfusion scan abnormalities predict survival in sarcoid patients without cardiac symptoms

    International Nuclear Information System (INIS)

    Kinney, E.L.; Caldwell, J.W.

    1990-01-01

    Whereas the total mortality rate for sarcoidosis is 0.2 per 100,000, the prognosis, when the heart is involved, is very much worse. The authors used the difference in mortality rate to infer whether thallium 201 myocardial perfusion scan abnormalities correspond to myocardial sarcoid by making the simplifying assumption that if they do, then patients with abnormal scans will be found to have a death rate similar to patients with sarcoid heart disease. The authors therefore analyzed complete survival data on 52 sarcoid patients without cardiac symptoms an average of eighty-nine months after they had been scanned as part of a protocol. By use of survival analysis (the Cox proportional hazards model), the only variable that was significantly associated with survival was age. The patients' scan pattern, treatment status, gender, and race were not significantly related to survival. The authors conclude that thallium myocardial perfusion scans cannot reliably be used to diagnose sarcoid heart disease in sarcoid patients without cardiac symptoms

  6. Physiologic abnormalities of cardiac function in progressive systemic sclerosis with diffuse scleroderma

    International Nuclear Information System (INIS)

    Follansbee, W.P.; Curtiss, E.I.; Medsger, T.A. Jr.; Steen, V.D.; Uretsky, B.F.; Owens, G.R.; Rodnan, G.P.

    1984-01-01

    To investigate cardiopulmonary function in progressive systemic sclerosis with diffuse scleroderma, we studied 26 patients with maximal exercise and redistribution thallium scans, rest and exercise radionuclide ventriculography, pulmonary-function testing, and chest roentgenography. Although only 6 patients had clinical evidence of cardiac involvement, 20 had abnormal thallium scans, including 10 with reversible exercise-induced defects and 18 with fixed defects (8 had both). Seven of the 10 patients who had exercise-induced defects and underwent cardiac catheterization had normal coronary angiograms. Mean resting left ventricular ejection fraction and mean resting right ventricular ejection fraction were lower in patients with post-exercise left ventricular thallium defect scores above the median (59 +/- 13 per cent vs. 69 +/- 6 per cent, and 36 +/- 12 per cent vs. 47 +/- 7 per cent, respectively). The authors conclude that in progressive systemic sclerosis with diffuse scleroderma, abnormalities of myocardial perfusion are common and appear to be due to a disturbance of the myocardial microcirculation. Both right and left ventricular dysfunction appear to be related to this circulatory disturbance, suggesting ischemically mediated injury

  7. Improvement of drug exposure data in a registration of congenital abnormalities

    DEFF Research Database (Denmark)

    de Jong van den Berg, L; Feenstra, N; Sørensen, Henrik Toft

    1999-01-01

    We examined the possibilities of improving the retrospective collection of data on drug use during pregnancy. The European Registration of Congenital Anomalies (EUROCAT) has registered information on maternal drug exposure in the northern Netherlands through a question on the notification form fo...

  8. 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

    2014-12-01

    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. 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. 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. 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.

  9. High-sugar intake does not exacerbate metabolic abnormalities or cardiac dysfunction in genetic cardiomyopathy.

    Science.gov (United States)

    Hecker, Peter A; Galvao, Tatiana F; O'Shea, Karen M; Brown, Bethany H; Henderson, Reney; Riggle, Heather; Gupte, Sachin A; Stanley, William C

    2012-05-01

    A high-sugar intake increases heart disease risk in humans. In animals, sugar intake accelerates heart failure development by increased reactive oxygen species (ROS). Glucose-6-phosphate dehydrogenase (G6PD) can fuel ROS production by providing reduced nicotinamide adenine dinucleotide phosphate (NADPH) for superoxide generation by NADPH oxidase. Conversely, G6PD also facilitates ROS scavenging using the glutathione pathway. We hypothesized that a high-sugar intake would increase flux through G6PD to increase myocardial NADPH and ROS and accelerate cardiac dysfunction and death. Six-week-old TO-2 hamsters, a non-hypertensive model of genetic cardiomyopathy caused by a δ-sarcoglycan mutation, were fed a long-term diet of high starch or high sugar (57% of energy from sucrose plus fructose). After 24 wk, the δ-sarcoglycan-deficient animals displayed expected decreases in survival and cardiac function associated with cardiomyopathy (ejection fraction: control 68.7 ± 4.5%, TO-2 starch 46.1 ± 3.7%, P sugar 58.0 ± 4.2%, NS, versus TO-2 starch or control; median survival: TO-2 starch 278 d, TO-2 sugar 318 d, P = 0.133). Although the high-sugar intake was expected to exacerbate cardiomyopathy, surprisingly, there was no further decrease in ejection fraction or survival with high sugar compared with starch in cardiomyopathic animals. Cardiomyopathic animals had systemic and cardiac metabolic abnormalities (increased serum lipids and glucose and decreased myocardial oxidative enzymes) that were unaffected by diet. The high-sugar intake increased myocardial superoxide, but NADPH and lipid peroxidation were unaffected. A sugar-enriched diet did not exacerbate ventricular function, metabolic abnormalities, or survival in heart failure despite an increase in superoxide production. Copyright © 2012 Elsevier Inc. All rights reserved.

  10. Prevention of Fetal Congenital Malformations with Allowance for the Pharmacogenetic Features of the Metabolism of Antiepileptic Drugs and Hereditary Abnormalities in the Folate Cycle

    Directory of Open Access Journals (Sweden)

    D. V. Dmitrenko

    2014-01-01

    Full Text Available Fetal congenital malformations are among the most dangerous complications of pregnancy in women with epilepsy taking antiepileptic drugs. Valproic acid and phenobarbital have the greatest risk of teratogenic effects. Insights into the current mechanisms of teratogenic effect of antiepileptic drugs, pharmacogenetic features of the metabolism of valproates and hereditary abnormalities in the folate cycle enables prevention of fetal congenital malformations. 

  11. THE STUDY OF CARDIAC ABNORMALITY IN GERIATRIC POPULATION OF RURAL CENTRAL INDIA

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    Aman Chaturvedi

    2017-09-01

    Full Text Available BACKGROUND Health care of elderly in the society has emerged as an increasingly important issue in the recent years. As the elderly proportion of our population expands, maintaining health and wellness of the aged will continue to be an important research priority in the near future. This study was undertaken to determine cardiac abnormalities in geriatric population by echocardiography in rural central India. The aim of this study is to map the spectrum of cardiac abnormality in geriatric population of rural central India. MATERIALS AND METHODS The study was carried out on subjects from September 2014 – August 2016. All geriatric subjects i.e. above the age of 60 years who were admitted in medicine ward or who attended medicine OPD were considered for the study. All the preliminary biodata was collected, history taking and physical examination were done, ECG was recorded and finally 2D echo was performed in MMode, 2D echo, Doppler (CW and PW and TDI. All observations were recorded on a standard proforma sheet, statistical analysis was performed and results and conclusions drawn. RESULTS In present study, there was higher prevalence of major diseases. On M-Mode echocardiography, left atrial enlargement, LV hypertrophy/dilatation was found in significant number of subjects. On 2D echo, Myocardial Scarring/Thinning, valvular Degeneration was found significantly higher in elderly males, mitral and aortic calcification was found most frequently with prevalence higher in males. On Doppler echocardiography, diastolic dysfunction was common in elderly with very few subjects having normal diastolic function, most of the subjects having grade II diastolic dysfunction. Aortic, mitral and tricuspid regurgitation was common in elderly, and stenotic lesions of aortic and mitral valve were common. CONCLUSION We recommend that echocardiography should become an investigative norm in the elderly, this will aid in early detection of cardiovascular abnormalities

  12. Correlation of an abnormal rest /sup 201/Tl myocardial image: Pathological findings in cardiac transplant recipients

    Energy Technology Data Exchange (ETDEWEB)

    McKillop, J.H.; McDougall, I.R.; Billingham, M.; Schroeder, J.S.

    1982-06-01

    Rest myocardial /sup 201/Tl scintigraphy was undertaken in 15 males mean age 39 years (22-54) who had been accepted for cardiac transplantation. Complete pathological correlation was obtained in 14 after transplantation and in 1 who died before a suitable donor heart became available. The average time from scintigraphy to pathological evaluation was 42 days (9-103). All the /sup 201/Tl images were grossly abnormal and on the basis of these studies it was not possible to differentiate ischemic from idiopathic cardiomyopathy. Each of the three views of the /sup 201/Tl study was divided into three segments, therefore 135 areas were available for comparison (3 x 3 x 15). Eighty-eight of these were abnormal on scan and 78 of these were abnormal pathologically. The right ventricle was seen on all rest images but the degree of uptake bore no relationship to the measured thickness of the right ventricular wall. Structures such as the atrial wall and the enlarged papillary muscle were visualized in some patients. In two patients there was an improvement of the rest /sup 201/Tl image in delayed views and histologically these areas showed a mixture of muscle and fibrous tissue. The sensitivity of /sup 201/Tl imaging in this study was 89% and there was close correlation of the images with gross and microscopic pathological findings.

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

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    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.

  14. Perfusion abnormalities in congenital and neoplastic pulmonary disease: comparison of MR perfusion and multislice CT imaging

    International Nuclear Information System (INIS)

    Boll, Daniel T.; Lewin, Jonathan S.; Young, Philip; Gilkeson, Robert C.; Siwik, Ernest S.

    2005-01-01

    The aim of this work was to assess magnetic resonance (MR) perfusion patterns of chronic, nonembolic pulmonary diseases of congenital and neoplastic origin and to compare the findings with results obtained with pulmonary, contrast-enhanced multislice computed tomography (CT) imaging to prove that congenital and neoplastic pulmonary conditions require MR imaging over the pulmonary perfusion cycle to successfully and directly detect changes in lung perfusion patterns. Twenty-five patients underwent concurrent CT and MR evaluation of chronic pulmonary diseases of congenital (n=15) or neoplastic (n=10) origin. Analysis of MR perfusion and contrast-enhanced CT datasets was realized by defining pulmonary and vascular regions of interest in corresponding positions. MR perfusion calculated time-to-peak enhancement, maximal enhancement and the area under the perfusion curve. CT datasets provided pulmonary signal-to-noise ratio measurements. Vessel centerlines of bronchial arteries were determined. Underlying perfusion type, such as pulmonary arterial or systemic arterial supply, as well as regions with significant variations in perfusion were determined statistically. Analysis of the pulmonary perfusion pattern detected pulmonary arterial supply in 19 patients; six patients showed systemic arterial supply. In pulmonary arterial perfusion, MR and multislice CT imaging consistently detected the perfusion type and regions with altered perfusion patterns. In bronchial arterial supply, MR perfusion and CT imaging showed significant perfusion differences. Patients with bronchial arterial supply had bronchial arteries ranging from 2.0 to 3.6 mm compared with submillimeter diameters in pulmonary arterial perfusion. Dynamic MR imaging of congenital and neoplastic pulmonary conditions allowed characterization of the pulmonary perfusion type. CT imaging suggested the presence of systemic arterial perfusion by visualizing hypertrophied bronchial arteries. (orig.)

  15. [Research progress in genetic abnormalities and etiological factors of congenital anorectal malformation].

    Science.gov (United States)

    Zhang, Yanli; Ren, Hongxia

    2016-01-01

    Congenital anorectal malformation (ARM) is one of the most common gastrointestinal congenital diseases, accounting for 1/4 in digestive tract malformation, and is one of the congenital malformations in routine surveillance by the World Health Organization. Because of the variety of risk factors and the complexity of the pathological changes, etiology of ARM is still not clear. It is mostly considered that ARM is resulted from hereditary factors and environmental factors in the development of embryogenesis. Through animal experiments, scholars have found that Hox, Shh, Fgf, Wnt, Cdx and TCF4, Eph and ephrin play crucial role during the development of digestive tract. When the genes/signaling pathway dysfunction occurs, ARM may happen. In addition, ARM is related to the external factors in pregnancy. Because of the complexity of related factors in the development of human embryogenesis, the research progress of human ARM is very slow. This paper reviews relevant literatures in genetic factors and environmental factors, in order to provide the theoretical basis for the treatment and prevention of ARM.

  16. Amniotic fluid deficiency and congenital abnormalities both influence fluctuating asymmetry in developing limbs of human deceased fetuses.

    Directory of Open Access Journals (Sweden)

    Clara Mariquita Antoinette ten Broek

    Full Text Available Fluctuating asymmetry (FA, as an indirect measure of developmental instability (DI, has been intensively studied for associations with stress and fitness. Patterns, however, appear heterogeneous and the underlying causes remain largely unknown. One aspect that has received relatively little attention in the literature is the consequence of direct mechanical effects on asymmetries. The crucial prerequisite for FA to reflect DI is that environmental conditions on both sides should be identical. This condition may be violated during early human development if amniotic fluid volume is deficient, as the resulting mechanical pressures may increase asymmetries. Indeed, we showed that limb bones of deceased human fetuses exhibited increased asymmetry, when there was not sufficient amniotic fluid (and, thus, space in the uterine cavity. As amniotic fluid deficiency is known to cause substantial asymmetries and abnormal limb development, these subtle asymmetries are probably at least in part caused by the mechanical pressures. On the other hand, deficiencies in amniotic fluid volume are known to be associated with other congenital abnormalities that may disturb DI. More specifically, urogenital abnormalities can directly affect/reduce amniotic fluid volume. We disentangled the direct mechanical effects on FA from the indirect effects of urogenital abnormalities, the latter presumably representing DI. We discovered that both factors contributed significantly to the increase in FA. However, the direct mechanical effect of uterine pressure, albeit statistically significant, appeared less important than the effects of urogenital abnormalities, with an effect size only two-third as large. We, thus, conclude that correcting for the relevant direct factors allowed for a representative test of the association between DI and stress, and confirmed that fetuses form a suitable model system to increase our understanding in patterns of FA and symmetry development.

  17. Kosovo’s Experience for Children with Feeding Difficulties after Cardiac Surgery for Congenital Heart Defect

    Science.gov (United States)

    Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Maloku, Arlinda; Vuçiterna, Armend; Zeka, Naim; Gerguri, Abdurrahim; Bejiqi, Rinor

    2017-01-01

    BACKGROUND: A feeding disorder in infancy and during childhood is a complex condition involving different symptoms such as food refusal and faddiest, both leading to a decreased food intake. AIM: We aimed to assess the prevalence and predictor factors of feeding difficulties in children who underwent cardiac open heart surgery in neonatal period and infancy. We address selected nutritional and caloric requirements for children after cardiac surgery and explore nutritional interdependence with other system functions. METHODS: This was a retrospective study in a tertiary referral hospital, and prior approval from the institutional ethics committee was obtained. Information for 78 children (42 male and 36 female) was taken from patients charts. Data were analysed with descriptive statistics and logistic regression. RESULTS: From a cohort of analysed children with feeding problems we have occurred in 23% of such cases. At the time of the study, refusal to eat or poor appetite was reported as a significant problem in 19 children and subnormal height and weight were recorded in 11 children. Early neonatal intervention and reoperation were identified as risk factors for latter feeding difficulties or inadequate intake. Children with feeding problems also tended to eat less than children without feeding problems. There was a trend towards more feeding problems in patients with chromosomal abnormalities or other associated anomalies. CONCLUSION: Feeding disorder is often and a frequent long-term sequel in children after neonatal or early infancy heart surgery. Patients with chromosomal and associated anomalies who underwent multiple cardiac surgeries are at risk of developing feeding difficulties. PMID:29362619

  18. Importance of Calibration Method in Central Blood Pressure for Cardiac Structural Abnormalities.

    Science.gov (United States)

    Negishi, Kazuaki; Yang, Hong; Wang, Ying; Nolan, Mark T; Negishi, Tomoko; Pathan, Faraz; Marwick, Thomas H; Sharman, James E

    2016-09-01

    Central blood pressure (CBP) independently predicts cardiovascular risk, but calibration methods may affect accuracy of central systolic blood pressure (CSBP). Standard central systolic blood pressure (Stan-CSBP) from peripheral waveforms is usually derived with calibration using brachial SBP and diastolic BP (DBP). However, calibration using oscillometric mean arterial pressure (MAP) and DBP (MAP-CSBP) is purported to provide more accurate representation of true invasive CSBP. This study sought to determine which derived CSBP could more accurately discriminate cardiac structural abnormalities. A total of 349 community-based patients with risk factors (71±5years, 161 males) had CSBP measured by brachial oscillometry (Mobil-O-Graph, IEM GmbH, Stolberg, Germany) using 2 calibration methods: MAP-CSBP and Stan-CSBP. Left ventricular hypertrophy (LVH) and left atrial dilatation (LAD) were measured based on standard guidelines. MAP-CSBP was higher than Stan-CSBP (149±20 vs. 128±15mm Hg, P curve analyses, MAP-CSBP significantly better discriminated LVH compared with Stan-CSBP (area under the curve (AUC) 0.66 vs. 0.59, P = 0.0063) and brachial SBP (0.62, P = 0.027). Continuous net reclassification improvement (NRI) (P AUC 0.63 vs. 0.56, P = 0.005) and conventional brachial SBP (0.58, P = 0.006), whereas Stan-CSBP provided no better discrimination than conventional brachial BP (P = 0.09). CSBP is calibration dependent and when oscillometric MAP and DBP are used, the derived CSBP is a better discriminator for cardiac structural abnormalities. © American Journal of Hypertension, Ltd 2016. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

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

    Directory of Open Access Journals (Sweden)

    Goffinet François

    2011-10-01

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

  20. Prenatal screening for major congenital heart disease: assessing performance by combining national cardiac audit with maternity data.

    Science.gov (United States)

    Gardiner, Helena M; Kovacevic, Alexander; van der Heijden, Laila B; Pfeiffer, Patricia W; Franklin, Rodney Cg; Gibbs, John L; Averiss, Ian E; Larovere, Joan M

    2014-03-01

    Determine maternity hospital and lesion-specific prenatal detection rates of major congenital heart disease (mCHD) for hospitals referring prenatally and postnatally to one Congenital Cardiac Centre, and assess interhospital relative performance (relative risk, RR). We manually linked maternity data (3 hospitals prospectively and another 16 retrospectively) with admissions, fetal diagnostic and surgical cardiac data from one Congenital Cardiac Centre. This Centre submits verified information to National Institute for Cardiovascular Outcomes Research (NICOR-Congenital), which publishes aggregate antenatal diagnosis data from infant surgical procedures. We included 120 198 unselected women screened prospectively over 11 years in 3 maternity hospitals (A, B, C). Hospital A: colocated with fetal medicine, proactive superintendent, on-site training, case-review and audit, hospital B: on-site training, proactive superintendent, monthly telemedicine clinics, and hospital C: sonographers supported by local obstetrician. We then studied 321 infants undergoing surgery for complete transposition (transposition of the great arteries (TGA), n=157) and isolated aortic coarctation (CoA, n=164) screened in hospitals A, B, C prospectively, and 16 hospitals retrospectively. 385 mCHD recorded prospectively from 120 198 (3.2/1000) screened women in 3 hospitals. Interhospital relative performance (RR) in Hospital A:1.68 (1.4 to 2.0), B:0.70 (0.54 to 0.91), C:0.65 (0.5 to 0.8). Standardised prenatal detection rates (funnel plots) demonstrating inter-hospital variation across 19 hospitals for TGA (37%, 0.00 to 0.81) and CoA (34%, 0.00 to 1.06). Manually linking data sources produced hospital-specific and lesion-specific prenatal mCHD detection rates. More granular, rather than aggregate, data provides meaningful feedback to improve screening performance. Automatic maternal and infant record linkage on a national scale, requires verified, prospective maternity audit and integration of

  1. Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

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    C. S. Paththinige

    2016-01-01

    Full Text Available A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described. Chromosomal analysis showed a de novo 46,XX,r(4(p15.3q35 karyotype. The clinical features of the patient were compared with the phenotypic characteristics of 17 previously reported cases with ring chromosome 4 and those with Wolf-Hirschhorn syndrome (4p-. Clinical features observed in this case are consistent with the consensus phenotype in ring chromosome 4. Patent ductus arteriosus and bilateral talipes equinovarus observed in this baby widen the phenotypic spectrum associated with ring chromosome 4.

  2. 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

    International Nuclear Information System (INIS)

    Lee, Tain; Tsai, I.C.; Chen, Min-Chi; Fu, Yun-Ching; Jan, Sheng-Lin; Wang, Chung-Chi; Chang, Yen

    2006-01-01

    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.)

  3. Disruption of Ah Receptor Signaling during Mouse Development Leads to Abnormal Cardiac Structure and Function in the Adult.

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    Vinicius S Carreira

    Full Text Available The Developmental Origins of Health and Disease (DOHaD Theory proposes that the environment encountered during fetal life and infancy permanently shapes tissue physiology and homeostasis such that damage resulting from maternal stress, poor nutrition or exposure to environmental agents may be at the heart of adult onset disease. Interference with endogenous developmental functions of the aryl hydrocarbon receptor (AHR, either by gene ablation or by exposure in utero to 2,3,7,8-tetrachlorodibenzo-p-dioxin (TCDD, a potent AHR ligand, causes structural, molecular and functional cardiac abnormalities and altered heart physiology in mouse embryos. To test if embryonic effects progress into an adult phenotype, we investigated whether Ahr ablation or TCDD exposure in utero resulted in cardiac abnormalities in adult mice long after removal of the agent. Ten-months old adult Ahr-/- and in utero TCDD-exposed Ahr+/+ mice showed sexually dimorphic abnormal cardiovascular phenotypes characterized by echocardiographic findings of hypertrophy, ventricular dilation and increased heart weight, resting heart rate and systolic and mean blood pressure, and decreased exercise tolerance. Underlying these effects, genes in signaling networks related to cardiac hypertrophy and mitochondrial function were differentially expressed. Cardiac dysfunction in mouse embryos resulting from AHR signaling disruption seems to progress into abnormal cardiac structure and function that predispose adults to cardiac disease, but while embryonic dysfunction is equally robust in males and females, the adult abnormalities are more prevalent in females, with the highest severity in Ahr-/- females. The findings reported here underscore the conclusion that AHR signaling in the developing heart is one potential target of environmental factors associated with cardiovascular disease.

  4. Cardiac ventriculography

    International Nuclear Information System (INIS)

    Hillis, L.D.; Grossman, W.

    1986-01-01

    Cardiac ventriculography has been used extensively to define the anatomy of the ventricles and related structures in patients with congenital, valvular, coronary, and cardiomyopathic heart disease. Specifically, left ventriculography may provide valuable information about global and segmental left ventricular function, mitral valvular incompetence, and the presence, location, and severity of a number of other abnormalities, including ventricular septal defect and hypertrophic cardiomyopathy. As a result, it should be a routine part of catheterization in patients being evaluated for coronary artery disease, aortic or mitral valvular disease, unexplained left ventricular failure, or congenital heart disease. Similarly, right ventriculography may provide information about global and segmental right ventricular function and can be especially helpful in patients with congenital heart disease

  5. Cardiac fibroblast transcriptome analyses support a role for interferogenic, profibrotic, and inflammatory genes in anti-SSA/Ro-associated congenital heart block.

    Science.gov (United States)

    Clancy, Robert M; Markham, Androo J; Jackson, Tanisha; Rasmussen, Sara E; Blumenberg, Miroslav; Buyon, Jill P

    2017-09-01

    reflected fibrosis. These data support the novel finding that cardiac injury in CHB may occur secondary to abnormal remodeling due in part to upregulation of type 1 IFN response genes. NEW & NOTEWORTHY Congenital heart block is a rare disease of the fetal heart associated with maternal anti-Ro autoantibodies which can result in death and for survivors, lifelong pacing. This study provides in vivo and in vitro transcriptome-support that injury may be mediated by an effect of Type I Interferon on fetal fibroblasts. Copyright © 2017 the American Physiological Society.

  6. Frequency and severity of myocardial perfusion abnormalities using Tc-99m MIBI SPECT in cardiac syndrome X

    International Nuclear Information System (INIS)

    Saghari, Mohsen; Assadi, Majid; Eftekhari, Mohammad; Yaghoubi, Mohammad; Fard-Esfahani, Armaghan; Malekzadeh, Jan-Mohammad; Sichani, Babak Fallhi; Beiki, Davood; Takavar, Abbas

    2006-01-01

    Cardiac syndrome X is defined by a typical angina pectoris with normal or near normal (stenosis <40%) coronary angiogram with or without electrocardiogram (ECG) change or atypical angina pectoris with normal or near normal coronary angiogram plus a positive none-invasive test (exercise tolerance test or myocardial perfusion scan) with or without ECG change. Studies with myocardial perfusion imaging on this syndrome have indicated some abnormal perfusion scan. We evaluated the role of myocardial perfusion imaging (MPI) and also the severity and extent of perfusion abnormality using Tc-99m MIBI Single Photon Emission Computed Tomography (SPECT) in these patients. The study group consisted of 36 patients with cardiac syndrome X. The semiquantitative perfusion analysis was performed using exercise Tc-99m MIBI SPECT. The MPI results were analyzed by the number, location and severity of perfusion defects. Abnormal perfusion defects were detected in 13 (36.10%) cases, while the remaining 23 (63.90%) had normal cardiac imaging. Five of 13 (38.4%) abnormal studies showed multiple perfusion defects. The defects were localized in the apex in 3, apical segments in 4, midventricular segments in 12 and basal segments in 6 cases. Fourteen (56%) of all abnormal segments revealed mild, 7(28%) moderate and 4 (16%) severe reduction of tracer uptake. No fixed defects were identified. The vessel territories were approximately the same in all subjects. The Exercise treadmill test (ETT) was positive in 25(69%) and negative in 11(30%) patients. There was no consistent pattern as related to the extent of MPI defects or exercise test results. Our study suggests that multiple perfusion abnormalities with different levels of severity are common in cardiac syndrome X, with more than 30 % of these patients having at least one abnormal perfusion segment. Our findings suggest that in these patients microvascular angina is probably more common than is generally believed

  7. Possible association of first and high birth order of pregnant women with the risk of isolated congenital abnormalities in Hungary - a population-based case-matched control study.

    Science.gov (United States)

    Csermely, Gyula; Susánszky, Éva; Czeizel, Andrew E; Veszprémi, Béla

    2014-08-01

    In epidemiological studies at the estimation of risk factors in the origin of specified congenital abnormalities in general birth order (parity) is considered as confounder. The aim of this study was to analyze the possible association of first and high (four or more) birth order with the risk of congenital abnormalities in a population-based case-matched control data set. The large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities included 21,494 cases with different isolated congenital abnormality and their 34,311 matched controls. First the distribution of birth order was compared of 24 congenital abnormality groups and their matched controls. In the second step the possible association of first and high birth order with the risk of congenital abnormalities was estimated. Finally some subgroups of neural-tube defects, congenital heart defects and abdominal wall's defects were evaluated separately. A higher risk of spina bifida aperta/cystica, esophageal atresia/stenosis and clubfoot was observed in the offspring of primiparous mothers. Of 24 congenital abnormality groups, 14 had mothers with larger proportion of high birth order. Ear defects, congenital heart defects, cleft lip± palate and obstructive defects of urinary tract had a linear trend from a lower proportion of first born cases to the larger proportion of high birth order. Birth order showed U-shaped distribution of neural-tube defects and clubfoot, i.e. both first and high birth order had a larger proportion in cases than in their matched controls. Birth order is a contributing factor in the origin of some isolated congenital abnormalities. The higher risk of certain congenital abnormalities in pregnant women with first or high birth order is worth considering in the clinical practice, e.g. ultrasound scanning. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  8. Normal and abnormal electrical activation of the heart. Imaging patterns obtained by phase analysis of equilibrium cardiac studies

    International Nuclear Information System (INIS)

    Pavel, D.; Byrom, E.; Swiryn, S.; Meyer-Pavel, C.; Rosen, K.

    1981-01-01

    By using a temporal Fourier analysis of gated equilibrium cardiac studies, phase images were obtained. These functional images were analysed qualitatively and quantitatively to determine if specific patterns can be found for normal versus abnormal electrical activation of the heart. The study included eight subjects with normal cardiac function and 24 patients with abnormal electrical activation: eight with left bundle branch block (LBBB), two with right bundle branch block (RBBB), six with Wolff-Parkinson-White syndrome (WPW), one with junctional rhythm, one with spontaneous sustained ventricular tachycardia (VT) (all with normal wall motion), two with chronic transvenous pacemakers, and four with induced sustained VT (all with regional wall motion abnormalities). The results show that the two ventricals have the same mean phase (within +-9 0 ) in normals, but significantly different mean phases in all patients with bundle branch blocks. Of the six WPW patients, three had a distinctive abnormal pattern. The patient with junctional rhythm, those with transvenous pacemakers, and those with VT all had abnormal patterns on the phase image. The phase image is capable of showing differences between patients with electrical activation and a variety of electrical abnormalities. Within the latter category distinct patterns can be associated with each type of abnormality. (author)

  9. First-Trimester Crown-Rump Length and Embryonic Volume of Fetuses with Structural Congenital Abnormalities Measured in Virtual Reality: An Observational Study

    Directory of Open Access Journals (Sweden)

    L. Baken

    2017-01-01

    Full Text Available Background. With the introduction of three-dimensional (3D ultrasound it has become possible to measure volumes. The relative increase in embryonic volume (EV is much larger than that of the crown-rump length (CRL over the same time period. We examined whether EV is a better parameter to determine growth restriction in fetuses with structural congenital abnormalities. Study Design, Subjects, and Outcome Measures. CRL and EV were measured using a Virtual Reality (VR system in prospectively collected 3D ultrasound volumes of 56 fetuses diagnosed with structural congenital abnormalities in the first trimester of pregnancy (gestational age 7+5 to 14+5 weeks. Measured CRL and EV were converted to z-scores and to percentages of the expected mean using previously published reference curves of euploid fetuses. The one-sample t-test was performed to test significance. Results. The EV was smaller than expected for GA in fetuses with structural congenital abnormalities (−35%  p<0.001, z-score −1.44  p<0.001, whereas CRL was not (−6.43%  p=0.118, z-score −0.43  p=0.605. Conclusions. CRL is a less reliable parameter to determine growth restriction in fetuses with structural congenital abnormalities as compared with EV. By measuring EV, growth restriction in first-trimester fetuses with structural congenital abnormalities becomes more evident and enables an earlier detection of these cases.

  10. Association of US State Implementation of Newborn Screening Policies for Critical Congenital Heart Disease With Early Infant Cardiac Deaths.

    Science.gov (United States)

    Abouk, Rahi; Grosse, Scott D; Ailes, Elizabeth C; Oster, Matthew E

    2017-12-05

    In 2011, critical congenital heart disease was added to the US Recommended Uniform Screening Panel for newborns, but whether state implementation of screening policies has been associated with infant death rates is unknown. To assess whether there was an association between implementation of state newborn screening policies for critical congenital heart disease and infant death rates. Observational study with group-level analyses. A difference-in-differences analysis was conducted using the National Center for Health Statistics' period linked birth/infant death data set files for 2007-2013 for 26 546 503 US births through June 30, 2013, aggregated by month and state of birth. State policies were classified as mandatory or nonmandatory (including voluntary policies and mandates that were not yet implemented). As of June 1, 2013, 8 states had implemented mandatory screening policies, 5 states had voluntary screening policies, and 9 states had adopted but not yet implemented mandates. Numbers of early infant deaths (between 24 hours and 6 months of age) coded for critical congenital heart disease or other/unspecified congenital cardiac causes for each state-month birth cohort. Between 2007 and 2013, there were 2734 deaths due to critical congenital heart disease and 3967 deaths due to other/unspecified causes. Critical congenital heart disease death rates in states with mandatory screening policies were 8.0 (95% CI, 5.4-10.6) per 100 000 births (n = 37) in 2007 and 6.4 (95% CI, 2.9-9.9) per 100 000 births (n = 13) in 2013 (for births by the end of July); for other/unspecified cardiac causes, death rates were 11.7 (95% CI, 8.6-14.8) per 100 000 births in 2007 (n = 54) and 10.3 (95% CI, 5.9-14.8) per 100 000 births (n = 21) in 2013. Early infant deaths from critical congenital heart disease through December 31, 2013, decreased by 33.4% (95% CI, 10.6%-50.3%), with an absolute decline of 3.9 (95% CI, 3.6-4.1) deaths per 100 000 births after

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

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    Sun-Kyung Park

    Full Text Available 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 (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 required to evaluate whether correction of preoperative anemia and prevention of hemoconcentration may ameliorate postoperative AKI in patients who underwent congenital cardiac surgery.

  12. Abnormal platelet-derived growth factor signaling accounting for lung hypoplasia in experimental congenital diaphragmatic hernia.

    Science.gov (United States)

    Dingemann, Jens; Doi, Takashi; Ruttenstock, Elke; Puri, Prem

    2010-10-01

    The pathogenesis of pulmonary hypoplasia in congenital diaphragmatic hernia (CDH) is not fully understood. Platelet-derived growth factor A (PDGFA) and platelet-derived growth factor receptor α (PDGFRα) play a crucial role in lung development. It has been reported that PDGF induces H(2)O(2)-production and that oxidative stress may be an important mechanism for the impaired lung development in the nitrofen rat model. We hypothesized that pulmonary expression of PDGFA and PDGFRα is altered in the nitrofen induced CDH model. Pregnant rats received 100 mg nitrofen or vehicle on gestational day 9 (D9) and were sacrificed on D15, D18 or D21. RNA was extracted from fetal left lungs and mRNA levels of PDGFA and PDGFRα were determined using real-time polymerase chain reaction. Immunohistochemistry for protein expression of PDGFA and PDGFRα was performed. Pulmonary H(2)O(2) was measured colorimetrically. mRNA levels of PDGFRα at D15 (4.50 ± 0.87) and PDGFA at D18 (2.90 ± 1.38) were increased in the nitrofen group (P stress during lung development. Copyright © 2010 Elsevier Inc. All rights reserved.

  13. Pulmonary vascular volume ratio measured by cardiac computed tomography in children and young adults with congenital heart disease: comparison with lung perfusion scintigraphy

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

    2017-11-15

    Lung perfusion scintigraphy is regarded as the gold standard for evaluating differential lung perfusion ratio in congenital heart disease. To compare cardiac CT with lung perfusion scintigraphy for estimated pulmonary vascular volume ratio in patients with congenital heart disease. We included 52 children and young adults (median age 4 years, range 2 months to 28 years; 31 males) with congenital heart disease who underwent cardiac CT and lung perfusion scintigraphy without an interim surgical or transcatheter intervention and within 1 year. We calculated the right and left pulmonary vascular volumes using threshold-based CT volumetry. Then we compared right pulmonary vascular volume percentages at cardiac CT with right lung perfusion percentages at lung perfusion scintigraphy by using paired t-test and Bland-Altman analysis. The right pulmonary vascular volume percentages at cardiac CT (66.3 ± 14.0%) were significantly smaller than the right lung perfusion percentages at lung perfusion scintigraphy (69.1 ± 15.0%; P=0.001). Bland-Altman analysis showed a mean difference of -2.8 ± 5.8% and 95% limits of agreement (-14.1%, 8.5%) between these two variables. Cardiac CT, in a single examination, can offer pulmonary vascular volume ratio in addition to pulmonary artery anatomy essential for evaluating peripheral pulmonary artery stenosis in patients with congenital heart disease. However there is a wide range of agreement between cardiac CT and lung perfusion scintigraphy. (orig.)

  14. Pulmonary vascular volume ratio measured by cardiac computed tomography in children and young adults with congenital heart disease: comparison with lung perfusion scintigraphy

    International Nuclear Information System (INIS)

    Goo, Hyun Woo; Park, Sang Hyub

    2017-01-01

    Lung perfusion scintigraphy is regarded as the gold standard for evaluating differential lung perfusion ratio in congenital heart disease. To compare cardiac CT with lung perfusion scintigraphy for estimated pulmonary vascular volume ratio in patients with congenital heart disease. We included 52 children and young adults (median age 4 years, range 2 months to 28 years; 31 males) with congenital heart disease who underwent cardiac CT and lung perfusion scintigraphy without an interim surgical or transcatheter intervention and within 1 year. We calculated the right and left pulmonary vascular volumes using threshold-based CT volumetry. Then we compared right pulmonary vascular volume percentages at cardiac CT with right lung perfusion percentages at lung perfusion scintigraphy by using paired t-test and Bland-Altman analysis. The right pulmonary vascular volume percentages at cardiac CT (66.3 ± 14.0%) were significantly smaller than the right lung perfusion percentages at lung perfusion scintigraphy (69.1 ± 15.0%; P=0.001). Bland-Altman analysis showed a mean difference of -2.8 ± 5.8% and 95% limits of agreement (-14.1%, 8.5%) between these two variables. Cardiac CT, in a single examination, can offer pulmonary vascular volume ratio in addition to pulmonary artery anatomy essential for evaluating peripheral pulmonary artery stenosis in patients with congenital heart disease. However there is a wide range of agreement between cardiac CT and lung perfusion scintigraphy. (orig.)

  15. A null mutation of Hhex results in abnormal cardiac development, defective vasculogenesis and elevated Vegfa levels.

    Science.gov (United States)

    Hallaq, Haifa; Pinter, Emese; Enciso, Josephine; McGrath, James; Zeiss, Caroline; Brueckner, Martina; Madri, Joseph; Jacobs, Harris C; Wilson, Christine M; Vasavada, Hemaxi; Jiang, Xiaobing; Bogue, Clifford W

    2004-10-01

    The homeobox gene Hhex has recently been shown to be essential for normal liver, thyroid and forebrain development. Hhex(-/-) mice die by mid-gestation (E14.5) and the cause of their early demise remains unclear. Because Hhex is expressed in the developing blood islands at E7.0 in the endothelium of the developing vasculature and heart at E9.0-9.5, and in the ventral foregut endoderm at E8.5-9.0, it has been postulated to play a critical role in heart and vascular development. We show here, for the first time, that a null mutation of Hhex results in striking abnormalities of cardiac and vascular development which include: (1) defective vasculogenesis, (2) hypoplasia of the right ventricle, (3) overabundant endocardial cushions accompanied by ventricular septal defects, outflow tract abnormalities and atrio-ventricular (AV) valve dysplasia and (4) aberrant development of the compact myocardium. The dramatic enlargement of the endocardial cushions in the absence of Hhex is due to decreased apoptosis and dysregulated epithelial-mesenchymal transformation (EMT). Interestingly, vascular endothelial growth factor A (Vegfa) levels in the hearts of Hhex(-/-) mice were elevated as much as three-fold between E9.5 and E11.5, and treatment of cultured Hhex(-/-) AV explants with truncated soluble Vegfa receptor 1, sFlt-1, an inhibitor of Vegf signaling, completely abolished the excessive epithelial-mesenchymal transformation seen in the absence of Hhex. Therefore, Hhex expression in the ventral foregut endoderm and/or the endothelium is necessary for normal cardiovascular development in vivo, and one function of Hhex is to repress Vegfa levels during development.

  16. Critical congenital heart defects and abnormal levels of routinely collected first- and second-trimester biomarkers.

    Science.gov (United States)

    Borelli, Melissa; Baer, Rebecca J; Chambers, Christina D; Smith, Tyler C; Jelliffe-Pawlowski, Laura L

    2017-02-01

    We examined the association between maternal characteristics, routinely collected first- and second-trimester biomarkers and the risk of having an infant with a critical congenital heart defect (CCHD). Included were women who participated in the California Prenatal Screening Program who had nuchal translucency (NT) measurement and first- and second-trimester serum screening. All pregnancies ended in a live birth of an infant without aneuploidy or a neural tube defect. Poisson regression analyses were used to estimate the relative risk and 95% confidence interval of a CCHD by maternal characteristics, first- and second-trimester serum biomarkers or NT measurements. The sample included 118,194 mother-infant pairs; 284 infants had a CCHD. Women with preexisting diabetes were three-times as likely to have an infant with a CCHD. After adjusting for preexisting diabetes, women with first-trimester human chorionic gonatotropin (hCG) measurement <10th centile were 1.6-times as likely to have an infant with a CCHD (P = 0.011). Women with a NT measurement ≥95th centile were at two- to threefold higher risk of having an infant with a CCHD (P's = 0.004-0.007). Pregnancies with two risk factors for an infant with a CCHD were 5.6-times more likely to have an infant with a CCHD than women with no identified risk factors (P < 0.001). Despite the increased risk, performance testing demonstrated low sensitivity and specificity for screening use of these risk factors. Of the women with an infant with a CCHD, only 21.8% had an identified risk factor. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  17. Trends in the utilization of computed tomography and cardiac catheterization among children with congenital heart disease

    Directory of Open Access Journals (Sweden)

    Justin Cheng-Ta Yang

    2015-11-01

    Conclusion: The use of noninvasive CT in children with selected heart conditions might reduce the use of diagnostic cardiac catheterization. This may release time and facilities within the catheterization laboratory to meet the increasing demand for cardiac interventions.

  18. [Palliative care for newborn infants with congenital malformations or genetic abnormalities].

    Science.gov (United States)

    Viallard, M-L; Moriette, G

    2017-02-01

    The choice of palliative care can be made today in the perinatal period, as it can be made in children and adults. Palliative care, rather than curative treatment, may be considered in three clinical situations: babies born at the limits of viability, withholding/withdrawing treatments in the NICU, and babies with severe malformations of genetic abnormalities identified during pregnancy. Only the last situation is addressed hereafter. In newborn infants as in older patients, palliative care aims at taking care of the baby and at providing comfort and well-being. The presence of human beings by the newborn infant, most importantly the parents and family, is of utmost importance. The available time should not be used only for care and medical treatments. Sufficient time should be kept for the parents to interact with the baby and for human presence and warmth. The best interests of the newborn infant are the main element for guiding appropriate care. Before birth, the choice of palliative care for newborn infants requires successive steps: (1) establishing a diagnosis of malformation(s) or genetic abnormalities; (2) making a prognosis and ruling out intensive treatments at birth and thereafter; (3) giving the parents appropriate information; (4) assisting the pregnant woman in deciding to continue pregnancy while excluding intensive treatment of the newborn baby; (5) dialoguing with parents about the expected duration of the baby's life and the related uncertainty; (6) planning of palliative care to be implemented at birth; (7) preparing a plan with the parents for discharging the infant from the hospital and for taking care of him over a long time, when it is deemed possible that the baby may live for more than a few days. Copyright © 2016 Elsevier Masson SAS. All rights reserved.

  19. Congenital heart defects and extracardiac malformations.

    Science.gov (United States)

    Rosa, Rosana Cardoso M; Rosa, Rafael Fabiano M; Zen, Paulo Ricardo G; Paskulin, Giorgio Adriano

    2013-06-01

    To review the association between congenital heart defects and extracardiac malformations. Scientific articles were searched in the Medline, Lilacs, and SciELO databases, using the descriptors "congenital heart disease," "congenital heart defects," "congenital cardiac malformations," "extracardiac defects," and "extracardiac malformations." All case series that specifically explored the association between congenital heart defects and extracardiac malformations were included. Congenital heart diseases are responsible for about 40% of birth defects, being one of the most common and severe malformations. Extracardiac malformations are observed in 7 to 50% of the patients with congenital heart disease, bringing a greater risk of comorbidity and mortality and increasing the risks related to heart surgery. Different studies have attempted to assess the presence of extracardiac abnormalities in patients with congenital heart disease. Among the changes described, those of the urinary tract are more often reported. However, no study has evaluated all patients in the same way. Extracardiac abnormalities are frequent among patients with congenital heart disease, and patients with these alterations may present an increased risk of morbimortality. Therefore, some authors have been discussing the importance and cost-effectiveness of screening these children for other malformations by complementary exams.

  20. Hydrophobic Man-1-P derivatives correct abnormal glycosylation in Type I congenital disorder of glycosylation fibroblasts.

    Science.gov (United States)

    Eklund, Erik A; Merbouh, Nabyl; Ichikawa, Mie; Nishikawa, Atsushi; Clima, Jessica M; Dorman, James A; Norberg, Thomas; Freeze, Hudson H

    2005-11-01

    Patients with Type I congenital disorders of glycosylation (CDG-I) make incomplete lipid-linked oligosaccharides (LLO). These glycans are poorly transferred to proteins resulting in unoccupied glycosylation sequons. Mutations in phosphomannomutase (PMM2) cause CDG-Ia by reducing the activity of PMM, which converts mannose (Man)-6-P to Man-1-P before formation of GDP-Man. These patients have reduced Man-1-P and GDP-Man. To replenish intracellular Man-1-P pools in CDG-Ia cells, we synthesized two hydrophobic, membrane permeable acylated versions of Man-1-P and determined their ability to normalize LLO size and N-glycosylation in CDG-Ia fibroblasts. Both compounds, compound I (diacetoxymethyl 2,3,4,6-tetra-O-acetyl-alpha-D-mannopyranosyl phosphate) (C-I) and compound II (diacetoxymethyl 2,3,4,6-tetra-O-ethyloxycarbonyl-alpha-D-mannopyranosyl phosphate) (C-II), contain two acetoxymethyl (CH2OAc) groups O-linked to phosphorous. C-I contains acetyl esters and C-II contains ethylcarbonate (CO2Et) esters on the Man residue. Both C-I and C-II normalized truncated LLO, but C-II was about 2-fold more efficient than C-I. C-II replenished the GDP-Man pool in CDG-Ia cells and was more efficiently incorporated into glycoproteins than exogenous Man at low concentrations (25-75 mM). In a glycosylation assay of DNaseI in CDG-Ia cells, C-II restored glycosylation to control cell levels. C-II also corrected impaired LLO biosynthesis in cells from a Dolichol (Dol)-P-Man deficient patient (CDG-Ie) and partially corrected LLO in cells from an ALG12 mannosyltransferase-deficient patient (CDG-Ig), whereas cells from an ALG3-deficient patient (CDG-Id) and from an MPDU1-deficient patient (CDG-If) were not corrected. These results validate the general concept of using pro-Man-1-P substrates as potential therapeutics for CDG-I patients.

  1. 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

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

    Directory of Open Access Journals (Sweden)

    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.

  3. [Prevalence of congenital abnormalities identified in fetuses with 13, 18 and 21 chromosomal trisomy].

    Science.gov (United States)

    Emer, Caroline Soares Cristofari; Duque, Julio Alejandro Peña; Müller, Ana Lúcia Letti; Gus, Rejane; Sanseverino, Maria Teresa Vieira; da Silva, André Anjos; Magalhães, José Antonio de Azevedo

    2015-07-01

    To describe the prevalence of malformations found in fetuses with trisomy of chromosomes 13, 18 and 21 by identifying the most frequent within each condition. A retrospective cross-sectional study with the analysis of trisomy cases of chromosomes 13, 18 and 21 diagnosed through fetal karyotype obtained by amniocentesis/cordocentesis, between October 1994 and May 2014, at a Teaching Hospital in Brazil Southern Region. Malformations identified through morphological ultrasonography were described and, subsequently, confirmed in newborn examinations and/or fetal autopsy. The results were analyzed using Fisher's test and analysis of variance (ANOVA), with a 5% level of significance (p=0.05). Sixty-nine cases of trisomy were diagnosed among 840 exams; nine were excluded due to outcome outside Hospital de Clínicas de Porto Alegre or incomplete records, remaining 60 cases (nine cases of chromosome 13 trisomy, 26 of chromosome 18, and 25 of chromosome 21). In all three groups, heart disease occurred in most cases; the ventricular septal defect was more prevalent and occurred in 66.7% of the trisomy 13 group. Gastrointestinal abnormalities were more prevalent in the trisomy 18 group, especially omphalocele (38.5%; pmalformations significantly differed among the trisomy groups. Hand defects occurred in 50% of trisomy 18 cases, and in 44.4% of all trisomy 13 cases (pmalformations identified at ultrasound are suggestive of trisomy and represent an important tool for etiologic diagnosis and prenatal and pre-conception genetic counseling.

  4. A new syndrome: multiple congenital abnormalities and mental retardation in two brothers.

    Science.gov (United States)

    Dundar, M; Ozdemir, S Y; Fryns, J P

    2012-01-01

    In this report we present two brothers with abnormal neurological development, hypotonia, short stature, pylorus stenosis, pectus excavatum, brachycephaly due to craniosynostosis, frontal bossing, depressed nasal bridge, high arched-wide palate, downslant palpebral fissures, low-set, large ears, thin upper lip and bilateral cryptorchidism. The brothers were born to a couple of second cousins and were the third and fourth pregnancies of the mother. The father, the mother and the eldest sibling were phenotypically and chromosomally normal. The clinical findings of the brothers were found to be similar. These clinical findings were compared with syndromes showing some of the symptoms, namely Apert, FG, Floating-Harbor, Shprintzen-Goldberg and Rett Syndromes. However, when the findings were detailed, we observed that they did not match completely any of the syndromes in a discernable way. The MECP2 gene mutation was analysed because of mental retardation, poor neurological evolution and large ears, but no mutation was found. So these cases are presented as a new syndrome with apparent autosomal recessive inheritance.

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

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

    2006-07-15

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

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

    International Nuclear Information System (INIS)

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

    2006-01-01

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

  7. Early life environment and social determinants of cardiac health in children with congenital heart disease.

    Science.gov (United States)

    Wong, Peter; Denburg, Avram; Dave, Malini; Levin, Leo; Morinis, Julia Orkin; Suleman, Shazeen; Wong, Jonathan; Ford-Jones, Elizabeth; Moore, Aideen M

    2018-04-01

    Congenital heart disease is a significant cause of infant mortality. Epidemiology and social context play a crucial role in conditioning disease burden and modulating outcomes, while diagnosis and treatment remain resource intensive. This review will address the role of social demographics, environmental exposure, epigenetics and nutrition in the aetiology of congenital heart disease. We then discuss the determinant effect of social factors on the provision and outcomes of care for congenital heart disease and implications for practice. It is our hope that enhanced knowledge of the intersection of social determinants of health and congenital heart disease will facilitate effective preventative strategies at the individual and population levels to optimize heart health outcomes across the life course.

  8. Association Between Tangential Beam Treatment Parameters and Cardiac Abnormalities After Definitive Radiation Treatment for Left-Sided Breast Cancer

    International Nuclear Information System (INIS)

    Correa, Candace R.; Das, Indra J.; Litt, Harold I.; Ferrari, Victor; Hwang, W.-T.; Solin, Lawrence J.; Harris, Eleanor E.

    2008-01-01

    Purpose: To examine the association between radiation treatment (RT) parameters, cardiac diagnostic test abnormalities, and clinical cardiovascular diagnoses among patients with left-sided breast cancer after breast conservation treatment with tangential beam RT. Methods and Materials: The medical records of 416 patients treated between 1977 and 1995 with RT for primary left-sided breast cancer were reviewed for myocardial perfusion imaging and echocardiograms. Sixty-two patients (62/416, 15%) underwent these cardiac diagnostic tests for cardiovascular symptoms and were selected for further study. Central lung distance and maximum heart width and length in the treatment field were determined for each patient. Medical records were reviewed for cardiovascular diagnoses and evaluation of cardiac risk factors. Results: At a median of 12 years post-RT the incidence of cardiac diagnostic test abnormalities among symptomatic left-sided irradiated women was significantly higher than the predicted incidence of cardiovascular disease in the patient population, 6/62 (9%) predicted vs. 24/62 (39%) observed, p 0.001. As compared with patients with normal tests, patients with cardiac diagnostic test abnormalities had a larger median central lung distance (2.6 cm vs. 2.2 cm, p = 0.01). Similarly, patients with vs. without congestive heart failure had a larger median central lung distance (2.8 cm vs. 2.3 cm, p = 0.008). Conclusions: Contemporary RT for early breast cancer may be associated with a small, but potentially avoidable, risk of cardiovascular morbidity that is associated with treatment technique

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

    Science.gov (United States)

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

    2016-01-01

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

  10. Cardiac surgery in patients with congenital heart disease is associated with acute kidney injury and the risk of chronic kidney disease.

    Science.gov (United States)

    Madsen, Nicolas L; Goldstein, Stuart L; Frøslev, Trine; Christiansen, Christian F; Olsen, Morten

    2017-09-01

    Cardiac surgery associated-acute kidney injury (CS-AKI) occurs in 30-50% of patients undergoing surgery for congenital heart disease. Here we determine if CS-AKI is associated with chronic kidney disease (CKD) in patients with congenital heart disease. Using Danish regional population-based registries, our cohort study included patients with congenital heart disease born between 1990-2010 with first cardiac surgery between 2005 and 2010 (under 15 years of age). Utilizing in- and out-patient laboratory serum creatinine data, we identified individuals fulfilling KDIGO stages of AKI within 5 days of cardiac surgery. A unique personal identifier enabled unambiguous data linkage and virtually complete follow-up. The cumulative incidences of CKD stages 2-5 according to presence of CS-AKI were computed utilizing serum creatinine values and Pottel's formula. Using Cox regression, the corresponding hazard ratios were computed, adjusting for sex, age at first cardiac surgery, calendar period of surgery, and congenital heart disease severity. Of 382 patients with congenital heart disease undergoing cardiac surgery, 127 experienced CS-AKI within 5 days of surgery. Median follow-up was 4.9 years. The five-year cumulative incidence of CKD for patients with CS-AKI was 12% (95% confidence interval 7%-20%), significantly higher than the 3% (1%-5%) for those without CS-AKI with a significant adjusted hazard ratio of 3.8 (1.4-10.4). Thus, CS-AKI in patients with congenital heart disease is common and is associated with an increased risk for CKD. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

  11. Primary prevention of neural-tube defects and some other congenital abnormalities by folic acid and multivitamins: history, missed opportunity and tasks

    Science.gov (United States)

    Bártfai, Zoltán; Bánhidy, Ferenc

    2011-01-01

    The history of intervention trials of periconception folic acid with multivitamin and folic acid supplementation in women has shown a recent breakthrough in the primary prevention of structural birth defects, namely neural-tube defects and some other congenital abnormalities. Recently, some studies have demonstrated the efficacy of this new method in reducing congenital abnormalities with specific origin; for example, in the offspring of diabetic and epileptic mothers, and in pregnancy with high fever. The benefits and drawbacks of four possible uses of periconception folate/folic acid and multivitamin supplementation are discussed: we believe there has been a missed opportunity to implement this preventive approach in medical practice. The four methods are as follows: (i) dietary intake of folate and other vitamins, (ii) periconception folic acid/multivitamin supplementation, (iii) food fortification with folic acid, and (iv) the combination of oral contraceptives with 6S-5-methytetrahydrofolate (‘folate’). PMID:25083211

  12. [Combined G-banded karyotyping and multiplex ligation-dependent probe amplification for the detection of chromosomal abnormalities in fetuses with congenital heart defects].

    Science.gov (United States)

    Liu, Yang; Xie, Jiansheng; Geng, Qian; Xu, Zhiyong; Wu, Weiqin; Luo, Fuwei; Li, Suli; Wang, Qin; Chen, Wubin; Tan, Hongxi; Zhang, Hu

    2017-02-10

    To assess the value of G-banded karyotyping in combination with multiplex ligation-dependent probe amplification (MLPA) as a tool for the detection of chromosomal abnormalities in fetuses with congenital heart defects. The combined method was used to analyze 104 fetuses with heart malformations identified by ultrasonography. Abnormal findings were confirmed with chromosomal microarray analysis (CMA). Nineteen (18%) fetuses were found to harbor chromosomal aberrations by G-banded karyotyping and MLPA. For 93 cases, CMA has detected abnormalities in 14 cases including 10 pathogenic copy number variations (CNVs) and 4 CNVs of uncertain significance (VOUS). MLPA was able to detect all of the pathogenic CNVs and 1 VOUS CNV. Combined use of G-banded karyotyping and MLPA is a rapid, low-cost and effective method to detect chromosomal abnormalities in fetuses with various heart malformations.

  13. Age is not a good predictor of irreversibility of pulmonary hypertension in congenital cardiac malformations with left-to-right shunt.

    Science.gov (United States)

    Hosseinpour, Amir-Reza; Perez, Marie-Hélène; Longchamp, David; Cotting, Jacques; Sekarski, Nicole; Hurni, Michel; Prêtre, René; Di Bernardo, Stefano

    2018-03-01

    Congenital cardiac malformations with high pulmonary blood flow and pressure due to left-to-right shunts are usually repaired in early infancy for both the benefits of early relief of heart failure and the fear that the concomitant pulmonary hypertension may become irreversible unless these defects are corrected at an early age. Age, however, has been a poor predictor of irreversibility of pulmonary hypertension in our experience, which is presented here. A retrospective observational study. We defined "late" as age ≥2 years. We examined clinical, echocardiographic, and hemodynamic data from all patients aged ≥2 years with such malformations referred to us from 2004 untill 2015. Department of Pediatric Cardiology and Cardiac Surgery, University Hospital of Vaud, Lausanne, Switzerland. There were 39 patients, aged 2-35 years (median: 5 years), without chromosomal abnormalities. All had malformations amenable to biventricular repair, and all had high systolic right ventricular pressures by echocardiography prior to referral. All patients underwent catheterization for assessment of pulmonary hypertension. If this was reversible, surgical correction was offered. (1) Operability based on reversibility of pulmonary hypertension. (2) When surgery was offered, mortality and evidence of persisting postoperative pulmonary hypertension were examined. Eighteen patients had no pulmonary hypertension, 5 of variable ages were inoperable due to irreversible pulmonary hypertension, and 16 had reversible pulmonary hypertension. Therefore, 34 patients underwent corrective surgery, with no immediate or late mortality. Pulmonary arterial and right ventricular pressures decreased noticeably in all operated patients. This is sustained to date; they are all asymptomatic with no echocardiographic evidence of pulmonary hypertension at a median follow-up of 7 years (range 2-13 years). Pulmonary hypertension may still be reversible in many surprisingly old patients with left

  14. Maternal characteristics and birth outcomes of pregnant women who had offspring with congenital ear abnormalities - a population-based case-control study.

    Science.gov (United States)

    Paput, László; Bánhidy, Ferenc; Czeizel, Andrew E

    2011-09-01

    To describe the maternal characteristics and birth outcomes of newborn infants affected with isolated ear congenital abnormalities (IECA), mainly isolated anotia/microtia and unclassified multiple congenital abnormalities (CAs) including anotia/microtia (UMAM). Cases with IECA and UMAM were compared with their matched controls and all controls without any defect and malformed controls affected with other defects in the population-based large dataset of the Hungarian Case-Control Surveillance of Congenital Abnormalities. The mothers of 354 cases with IECA did not show significant difference in age, but their mean birth order was higher while their socio-economic status based on the maternal employment status was lower compared to the figures of their matched controls. There was a male excess among cases with microtia and mainly with UMAM. The evaluation of birth outcomes of newborns affected with IECA indicated intrauterine fetal growth retardation. Newborn infants with isolated microtia had intrauterine growth retardation and the association of this developmental defect localized for a small region of head with the general fetal development raises interesting theoretical question.

  15. Role of MDCT angiography in the preoperative evaluation of anomalous pulmonary venous connection associated with complex cardiac abnormality

    International Nuclear Information System (INIS)

    Liu Jingzhe; Wu Qingyu; Xu Yufeng; Bai Yan; Liu Zhibo; Li Hongyin; Zhu Jiemin

    2012-01-01

    Objectives: To evaluate the diagnostic accuracy of MDCT in patients with APVC associated with complex cardiac abnormality. Materials and methods: The clinical and imaging data of 39 patients with APVC confirmed by surgery were retrospectively reviewed. According to accompanied cardiac malformations, patients with APVC were classified as isolated and complex group. Using surgical findings as the reference standard, diagnostic agreement of MDCT, TTE (transthoracic echocardiography) and cardiac catheterization for detection of APVC were calculated. Results: At surgery, 27 patients were considered as complex APVCs. MDCT correctly diagnosed APVC in all patients and the diagnostic agreements between MDCT and surgery were both 100% in isolated and complex groups. All 5 APVCs which could not be detected at cardiac catheterization were in complex group, and the diagnostic agreements were 100% and 76.2% in isolated and complex groups, respectively. At TTE, eight of nine disagreed patients were complex cases. The diagnostic agreements of TTE were 91.7% and 66.7% in isolated and complex groups, respectively. The dysmorphic pulmonary veins were identified in 11 patients by MDCT. Conclusions: MDCT is superior to catheterization and TTE in evaluation of APVC associated with complex cardiac defects.

  16. Long-term psychological distress, and styles of coping, in parents of children and adolescents who underwent invasive treatment for congenital cardiac disease

    NARCIS (Netherlands)

    Spijkerboer, Alinda W.; Helbing, Willem A.; Bogers, Ad J. J. C.; van Domburg, Ron T.; Verhulst, Frank C.; Utens, Elisabeth M. W. J.

    2007-01-01

    To assess the level of psychological distress and styles of coping in both mothers and fathers of children who underwent invasive treatment for congenital cardiac disease at least 7 years and 6 months ago. The General Health Questionnaire and the Utrecht Coping List were completed by parents of

  17. 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

  18. Transitory electrocardiographic abnormalities following blunt cardiac trauma: Case report and literature review

    Directory of Open Access Journals (Sweden)

    J. Valle-Alonso

    2018-01-01

    Full Text Available Blunt cardiac trauma (BCT includes a number of diseases ranging from clinically silent arrhythmias to lethal cardiac wall rupture. The most common form is “cardiac contusion”, which is currently under debate. The absence of a clear definition and the lack of diagnostic tests of choice make diagnosing cardiac contusion difficult. We present the case report of a healthy young patient who went to the emergency department with electrocardiogram changes following blunt chest trauma, and review the current literature on the subject.

  19. [Completeness assessment of the Breton registry of congenital abnormalities: A checking tool based on hospital discharge data].

    Science.gov (United States)

    Riou, C; Rouget, F; Sinteff, J-P; Pladys, P; Cuggia, M

    2015-08-01

    Exhaustiveness is required for registries. In the Breton registry of congenital abnormalities, cases are recorded at the source. We use hospital discharge data in order to verify the completeness of the registry. In this paper, we present a computerized tool for completeness assessment applied to the Breton registry. All the medical information departments were solicited once a year, asking for infant medical stays for newborns alive at one year old and for mother's stays if not. Files were transmitted by secure messaging and data were processed on a secure server. An identity-matching algorithm was applied and a similarity score calculated. When the record was not linked automatically or manually, the medical record had to be consulted. The exhaustiveness rate was assessed using the capture recapture method and the proportion of cases matched manually was used to assess the identity matching algorithm. The computerized tool bas been used in common practice since June 2012 by the registry investigators. The results presented concerned the years 2011 and 2012. There were 470 potential cases identified from the hospital discharge data in 2011 and 538 in 2012, 35 new cases were detected in 2011 (32 children born alive and 3 stillborn), and 33 in 2012 (children born alive). There were respectively 85 and 137 false-positive cases. The theorical exhaustiveness rate reached 91% for both years. The rate of exact matching amounted to 68%; 6% of the potential cases were linked manually. Hospital discharge databases contribute to the quality of the registry even though reports are made at the source. The implemented tool facilitates the investigator's work. In the future, use of the national identifying number, when allowed, should facilitate linkage between registry data and hospital discharge data. Copyright © 2015 Elsevier Masson SAS. All rights reserved.

  20. Proximity to Pediatric Cardiac Surgical Care among Adolescents with Congenital Heart Defects in 11 New York Counties.

    Science.gov (United States)

    Sommerhalter, Kristin M; Insaf, Tabassum Z; Akkaya-Hocagil, Tugba; McGarry, Claire E; Farr, Sherry L; Downing, Karrie F; Lui, George K; Zaidi, Ali N; Van Zutphen, Alissa R

    2017-11-01

    Many individuals with congenital heart defects (CHDs) discontinue cardiac care in adolescence, putting them at risk of adverse health outcomes. Because geographic barriers may contribute to cessation of care, we sought to characterize geographic access to comprehensive cardiac care among adolescents with CHDs. Using a population-based, 11-county surveillance system of CHDs in New York, we characterized proximity to the nearest pediatric cardiac surgical care center among adolescents aged 11 to 19 years with CHDs. Residential addresses were extracted from surveillance records documenting 2008 to 2010 healthcare encounters. Addresses were geocoded using ArcGIS and the New York State Street and Address Maintenance Program, a statewide address point database. One-way drive and public transit time from residence to nearest center were calculated using R packages gmapsdistance and rgeos with the Google Maps Distance Matrix application programming interface. A marginal model was constructed to identify predictors associated with one-way travel time. We identified 2522 adolescents with 3058 corresponding residential addresses and 12 pediatric cardiac surgical care centers. The median drive time from residence to nearest center was 18.3 min, and drive time was 30 min or less for 2475 (80.9%) addresses. Predicted drive time was longest for rural western addresses in high poverty census tracts (68.7 min). Public transit was available for most residences in urban areas but for few in rural areas. We identified areas with geographic barriers to surgical care. Future research is needed to determine how these barriers influence continuity of care among adolescents with CHDs. Birth Defects Research 109:1494-1503, 2017.© 2017 Wiley Periodicals, Inc. © 2017 Wiley Periodicals, Inc.

  1. Left atrial isomerism associated with asplenia: prenatal echocardiographic detection of complex congenital cardiac malformations

    NARCIS (Netherlands)

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

    1984-01-01

    Complex congenital heart disease with suspected isomerism of the atria was diagnosed in two fetuses of 20 and 29 weeks' gestation using two-dimensional and M-mode scanning techniques. The first pregnancy was terminated at 21 weeks' gestation and stillbirth occurred at 31 weeks' gestation in the

  2. Evaluation of congenital heart disease by magnetic resonance imaging

    International Nuclear Information System (INIS)

    Roos, A. de; Roest, A.A.W.

    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.)

  3. Architecture design of the multi-functional wavelet-based ECG microprocessor for realtime detection of abnormal cardiac events.

    Science.gov (United States)

    Cheng, Li-Fang; Chen, Tung-Chien; Chen, Liang-Gee

    2012-01-01

    Most of the abnormal cardiac events such as myocardial ischemia, acute myocardial infarction (AMI) and fatal arrhythmia can be diagnosed through continuous electrocardiogram (ECG) analysis. According to recent clinical research, early detection and alarming of such cardiac events can reduce the time delay to the hospital, and the clinical outcomes of these individuals can be greatly improved. Therefore, it would be helpful if there is a long-term ECG monitoring system with the ability to identify abnormal cardiac events and provide realtime warning for the users. The combination of the wireless body area sensor network (BASN) and the on-sensor ECG processor is a possible solution for this application. In this paper, we aim to design and implement a digital signal processor that is suitable for continuous ECG monitoring and alarming based on the continuous wavelet transform (CWT) through the proposed architectures--using both programmable RISC processor and application specific integrated circuits (ASIC) for performance optimization. According to the implementation results, the power consumption of the proposed processor integrated with an ASIC for CWT computation is only 79.4 mW. Compared with the single-RISC processor, about 91.6% of the power reduction is achieved.

  4. Sickle cell disease and complex congenital cardiac surgery: a case report and review of the pathophysiology and perioperative management.

    Science.gov (United States)

    Sanders, D B; Smith, B P; Sowell, S R; Nguyen, D H; Derby, C; Eshun, F; Nigro, J J

    2014-03-01

    Sickle cell anemia and thalassemia are hemoglobinopathies rarely encountered in the United States. Compounded with congenital heart disease, patients with sickle cell disease (SCD) requiring cardiopulmonary bypass and open-heart surgery represent the proverbial "needle in the haystack". As such, there is some trepidation on the part of clinicians when these patients present for complex cardiac surgery. SCD is an autosomal, recessive condition that results from a single nucleotide polymorphism in the β-globin gene. Hemoglobin SS molecules (HgbSS) with this point mutation can polymerize under the right conditions, stiffening the erythrocyte membrane and distorting the cellular structure to the characteristic sickle shape. This shape change alters cellular transit through the microvasculature. As a result, circumstances such as hypoxia, hypothermia, acidosis or diminished blood flow can lead to aggregation, vascular occlusion and thrombosis. Chronically, SCD can give rise to multiorgan damage secondary to hemolysis and vascular obstruction. This review and case study details an 11-year-old African-American male with known SCD who presented to the cardiothoracic surgical service with congenital heart disease consisting of an anomalous, intramural right coronary artery arising from the left coronary sinus for surgical consultation and subsequent surgical correction. This case report will include a review of the pathophysiology and current literature regarding preoperative, intraoperative and postoperative management of SCD patients.

  5. Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.

    Science.gov (United States)

    Granados-Riveron, Javier T; Ghosh, Tushar K; Pope, Mark; Bu'Lock, Frances; Thornborough, Christopher; Eason, Jacqueline; Kirk, Edwin P; Fatkin, Diane; Feneley, Michael P; Harvey, Richard P; Armour, John A L; David Brook, J

    2010-10-15

    Congenital heart defects (CHD) are collectively the most common form of congenital malformation. Studies of human cases and animal models have revealed that mutations in several genes are responsible for both familial and sporadic forms of CHD. We have previously shown that a mutation in MYH6 can cause an autosomal dominant form of atrial septal defect (ASD), whereas others have identified mutations of the same gene in patients with hypertrophic and dilated cardiomyopathy. In the present study, we report a mutation analysis of MYH6 in patients with a wide spectrum of sporadic CHD. The mutation analysis of MYH6 was performed in DNA samples from 470 cases of isolated CHD using denaturing high-performance liquid chromatography and sequence analysis to detect point mutations and small deletions or insertions, and multiplex amplifiable probe hybridization to detect partial or complete copy number variations. One non-sense mutation, one splicing site mutation and seven non-synonymous coding mutations were identified. Transfection of plasmids encoding mutant and non-mutant green fluorescent protein-MYH6 fusion proteins in mouse myoblasts revealed that the mutations A230P and A1366D significantly disrupt myofibril formation, whereas the H252Q mutation significantly enhances myofibril assembly in comparison with the non-mutant protein. Our data indicate that functional variants of MYH6 are associated with cardiac malformations in addition to ASD and provide a novel potential mechanism. Such phenotypic heterogeneity has been observed in other genes mutated in CHD.

  6. Kosovo’s Experience for Children with Feeding Difficulties after Cardiac Surgery for Congenital Heart Defect

    Directory of Open Access Journals (Sweden)

    Ramush Bejiqi

    2017-11-01

    CONCLUSION: Feeding disorder is often and a frequent long-term sequel in children after neonatal or early infancy heart surgery. Patients with chromosomal and associated anomalies who underwent multiple cardiac surgeries are at risk of developing feeding difficulties.

  7. Pulmonary vascular volume ratio measured by cardiac computed tomography in children and young adults with congenital heart disease: comparison with lung perfusion scintigraphy.

    Science.gov (United States)

    Goo, Hyun Woo; Park, Sang Hyub

    2017-11-01

    Lung perfusion scintigraphy is regarded as the gold standard for evaluating differential lung perfusion ratio in congenital heart disease. To compare cardiac CT with lung perfusion scintigraphy for estimated pulmonary vascular volume ratio in patients with congenital heart disease. We included 52 children and young adults (median age 4 years, range 2 months to 28 years; 31 males) with congenital heart disease who underwent cardiac CT and lung perfusion scintigraphy without an interim surgical or transcatheter intervention and within 1 year. We calculated the right and left pulmonary vascular volumes using threshold-based CT volumetry. Then we compared right pulmonary vascular volume percentages at cardiac CT with right lung perfusion percentages at lung perfusion scintigraphy by using paired t-test and Bland-Altman analysis. The right pulmonary vascular volume percentages at cardiac CT (66.3 ± 14.0%) were significantly smaller than the right lung perfusion percentages at lung perfusion scintigraphy (69.1 ± 15.0%; P=0.001). Bland-Altman analysis showed a mean difference of -2.8 ± 5.8% and 95% limits of agreement (-14.1%, 8.5%) between these two variables. Cardiac CT, in a single examination, can offer pulmonary vascular volume ratio in addition to pulmonary artery anatomy essential for evaluating peripheral pulmonary artery stenosis in patients with congenital heart disease. However there is a wide range of agreement between cardiac CT and lung perfusion scintigraphy.

  8. Kosovo’s Experience for Children with Feeding Difficulties after Cardiac Surgery for Congenital Heart Defect

    OpenAIRE

    Bejiqi, Ramush; Retkoceri, Ragip; Bejiqi, Hana; Maloku, Arlinda; Vuçiterna, Armend; Zeka, Naim; Gerguri, Abdurrahim; Bejiqi, Rinor

    2017-01-01

    BACKGROUND: A feeding disorder in infancy and during childhood is a complex condition involving different symptoms such as food refusal and faddiest, both leading to a decreased food intake. AIM: We aimed to assess the prevalence and predictor factors of feeding difficulties in children who underwent cardiac open heart surgery in neonatal period and infancy. We address selected nutritional and caloric requirements for children after cardiac surgery and explore nutritional interdependence ...

  9. Significance of cardiac sympathetic nervous system abnormality for predicting vascular events in patients with idiopathic paroxysmal atrial fibrillation

    International Nuclear Information System (INIS)

    Akutsu, Yasushi; Kaneko, Kyouichi; Kodama, Yusuke; Li, Hui-Ling; Kawamura, Mitsuharu; Asano, Taku; Hamazaki, Yuji; Tanno, Kaoru; Kobayashi, Youichi; Suyama, Jumpei; Shinozuka, Akira; Gokan, Takehiko

    2010-01-01

    Neuronal system activity plays an important role for the prognosis of patients with atrial fibrillation (AF). Using 123 I metaiodobenzylguanidine ( 123 I-MIBG) scintigraphy, we investigated whether a cardiac sympathetic nervous system (SNS) abnormality would be associated with an increased risk of vascular events in patients with paroxysmal AF. 123 I-MIBG scintigraphy was performed in 69 consecutive patients (67 ± 13 years, 62% men) with paroxysmal AF who did not have structural heart disease. SNS integrity was assessed from the heart to mediastinum (H/M) ratio on delayed imaging. Serum concentration of C-reactive protein (CRP) was measured before 123 I-MIBG study. During a mean of 4.5 ± 3.6 years follow-up, 19 patients had myocardial infarction, stroke or heart failure (range: 0.2-11.5 years). SNS abnormality (H/M ratio <2.7) and high CRP (≥0.3 mg/dl) were associated with the vascular events (58.3% in 14 of 24 patients with SNS abnormality vs 11.1% in 5 of 45 patients without SNS abnormality, p < 0.0001, 52.4% in 11 of 21 patients with high CRP vs 16.7% in 8 of 48 patients without high CRP, p < 0.0001). After adjustment for potential confounding variables such as age, left atrial dimension and left ventricular function, SNS abnormality was an independent predictor of vascular events with a hazard ratio of 4.1 [95% confidence interval (CI): 1.3-12.6, p = 0.014]. Further, SNS abnormality had an incremental and additive prognostic power in combination with high CRP with an adjusted hazard ratio of 4.1 (95% CI: 1.5-10.9, p = 0.006). SNS abnormality is predictive of vascular events in patients with idiopathic paroxysmal AF. (orig.)

  10. Significance of cardiac sympathetic nervous system abnormality for predicting vascular events in patients with idiopathic paroxysmal atrial fibrillation

    Energy Technology Data Exchange (ETDEWEB)

    Akutsu, Yasushi; Kaneko, Kyouichi; Kodama, Yusuke; Li, Hui-Ling; Kawamura, Mitsuharu; Asano, Taku; Hamazaki, Yuji; Tanno, Kaoru; Kobayashi, Youichi [Showa University School of Medicine, Division of Cardiology, Department of Medicine, Tokyo (Japan); Suyama, Jumpei; Shinozuka, Akira; Gokan, Takehiko [Showa University School of Medicine, Department of Radiology, Tokyo (Japan)

    2010-04-15

    Neuronal system activity plays an important role for the prognosis of patients with atrial fibrillation (AF). Using {sup 123}I metaiodobenzylguanidine ({sup 123}I-MIBG) scintigraphy, we investigated whether a cardiac sympathetic nervous system (SNS) abnormality would be associated with an increased risk of vascular events in patients with paroxysmal AF. {sup 123}I-MIBG scintigraphy was performed in 69 consecutive patients (67 {+-} 13 years, 62% men) with paroxysmal AF who did not have structural heart disease. SNS integrity was assessed from the heart to mediastinum (H/M) ratio on delayed imaging. Serum concentration of C-reactive protein (CRP) was measured before {sup 123}I-MIBG study. During a mean of 4.5 {+-} 3.6 years follow-up, 19 patients had myocardial infarction, stroke or heart failure (range: 0.2-11.5 years). SNS abnormality (H/M ratio <2.7) and high CRP ({>=}0.3 mg/dl) were associated with the vascular events (58.3% in 14 of 24 patients with SNS abnormality vs 11.1% in 5 of 45 patients without SNS abnormality, p < 0.0001, 52.4% in 11 of 21 patients with high CRP vs 16.7% in 8 of 48 patients without high CRP, p < 0.0001). After adjustment for potential confounding variables such as age, left atrial dimension and left ventricular function, SNS abnormality was an independent predictor of vascular events with a hazard ratio of 4.1 [95% confidence interval (CI): 1.3-12.6, p = 0.014]. Further, SNS abnormality had an incremental and additive prognostic power in combination with high CRP with an adjusted hazard ratio of 4.1 (95% CI: 1.5-10.9, p = 0.006). SNS abnormality is predictive of vascular events in patients with idiopathic paroxysmal AF. (orig.)

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

    International Nuclear Information System (INIS)

    Papadopoulou, D.; Yakoumakis, Em; Sandilos, P.; Thanopoulos, V.; Makri, Tr; Gialousis, G.; Houndas, D.; Yakoumakis, N.; Georgiou, Ev

    2005-01-01

    The purpose of this study was to estimate the radiation exposure of children, during cardiac catheterizations for the diagnosis or treatment of congenital heart disease. Radiation doses were estimated for 45 children aged from 1 d to 13 y old. Thermoluminescent dosemeters (TLDs) were used to estimate the posterior entrance dose (D P ), the lateral entrance dose (D LAT ), the thyroid dose and the gonads dose. A dose-area product (DAP) meter was also attached externally to the tube of the angiographic system and gave a direct value in mGy cm 2 for each procedure. Posterior and lateral entrance dose values during cardiac catheterizations ranged from 1 to 197 mGy and from 1.1 to 250.3 mGy, respectively. Radiation exposure to the thyroid and the gonads ranged from 0.3 to 8.4 mGy to 0.1 and 0.7 mGy, respectively. Finally, the DAP meter values ranged between 360 and 33,200 mGy cm 2 . Radiation doses measured in this study are comparable with those reported to previous studies. Moreover, strong correlation was found between the DAP values and the entrance radiation dose measured with TLDs. (authors)

  12. Modeling Major Adverse Outcomes of Pediatric and Adult Patients With Congenital Heart Disease Undergoing Cardiac Catheterization: Observations From the NCDR IMPACT Registry (National Cardiovascular Data Registry Improving Pediatric and Adult Congenital Treatment).

    Science.gov (United States)

    Jayaram, Natalie; Spertus, John A; Kennedy, Kevin F; Vincent, Robert; Martin, Gerard R; Curtis, Jeptha P; Nykanen, David; Moore, Phillip M; Bergersen, Lisa

    2017-11-21

    Risk standardization for adverse events after congenital cardiac catheterization is needed to equitably compare patient outcomes among different hospitals as a foundation for quality improvement. The goal of this project was to develop a risk-standardization methodology to adjust for patient characteristics when comparing major adverse outcomes in the NCDR's (National Cardiovascular Data Registry) IMPACT Registry (Improving Pediatric and Adult Congenital Treatment). Between January 2011 and March 2014, 39 725 consecutive patients within IMPACT undergoing cardiac catheterization were identified. Given the heterogeneity of interventional procedures for congenital heart disease, new procedure-type risk categories were derived with empirical data and expert opinion, as were markers of hemodynamic vulnerability. A multivariable hierarchical logistic regression model to identify patient and procedural characteristics predictive of a major adverse event or death after cardiac catheterization was derived in 70% of the cohort and validated in the remaining 30%. The rate of major adverse event or death was 7.1% and 7.2% in the derivation and validation cohorts, respectively. Six procedure-type risk categories and 6 independent indicators of hemodynamic vulnerability were identified. The final risk adjustment model included procedure-type risk category, number of hemodynamic vulnerability indicators, renal insufficiency, single-ventricle physiology, and coagulation disorder. The model had good discrimination, with a C-statistic of 0.76 and 0.75 in the derivation and validation cohorts, respectively. Model calibration in the validation cohort was excellent, with a slope of 0.97 (standard error, 0.04; P value [for difference from 1] =0.53) and an intercept of 0.007 (standard error, 0.12; P value [for difference from 0] =0.95). The creation of a validated risk-standardization model for adverse outcomes after congenital cardiac catheterization can support reporting of risk

  13. CRISP: Catheterization RISk score for Pediatrics: A Report from the Congenital Cardiac Interventional Study Consortium (CCISC).

    Science.gov (United States)

    Nykanen, David G; Forbes, Thomas J; Du, Wei; Divekar, Abhay A; Reeves, Jaxk H; Hagler, Donald J; Fagan, Thomas E; Pedra, Carlos A C; Fleming, Gregory A; Khan, Danyal M; Javois, Alexander J; Gruenstein, Daniel H; Qureshi, Shakeel A; Moore, Phillip M; Wax, David H

    2016-02-01

    We sought to develop a scoring system that predicts the risk of serious adverse events (SAE's) for individual pediatric patients undergoing cardiac catheterization procedures. Systematic assessment of risk of SAE in pediatric catheterization can be challenging in view of a wide variation in procedure and patient complexity as well as rapidly evolving technology. A 10 component scoring system was originally developed based on expert consensus and review of the existing literature. Data from an international multi-institutional catheterization registry (CCISC) between 2008 and 2013 were used to validate this scoring system. In addition we used multivariate methods to further refine the original risk score to improve its predictive power of SAE's. Univariate analysis confirmed the strong correlation of each of the 10 components of the original risk score with SAE attributed to a pediatric cardiac catheterization (P pediatric cardiac catheterization procedures. © 2015 Wiley Periodicals, Inc.

  14. Cardiac catheterization and percutaneus catheter in grown-up congenital heart diseases: single center experience at developing country

    Directory of Open Access Journals (Sweden)

    Luh G.A.P. Dewi

    2018-05-01

    Full Text Available Background: Grown-up congenital heart disease (GUCH patients are unique and challenges especially at developing country. The numbers of diagnostic as well as interventional cardiac catheterization procedures in GUCH patients are growing. The aim of this study was to report the outcome of cardiac catheterization including intervention procedure in GUCH.Methods: The descriptive study was conducted at Sanglah Hospital, Denpasar, Bali, Indonesia. All patients (age of more than 12 years who underwent cardiac catheterization from 2011 until 2017 were included in this study. Patients, characteristic, types of catheter procedures, immediate complications, and outcomes were documented.Results: A total 54 subjects were included with median age of 23 years and 70% were female. The first symptom that brought patients to hospital is dyspnea 46% and palpitation 32%. Five subjects underwent a diagnostic catheter procedure and 49 (91% diagnostic and catheter based interventions. Transcatheter interventions procedures included atrial septal defect (ASD (success rate of 20 per 21, patent ductus arteriosus (PDA (success rate of 16 per16, ventricular septal defect (VSD (success rate of  9 per 9, pulmonal stenosis (PS (success rate of 1 per 2, and aortic stenosis (AS (success rate of 1 per 1. The complications encountered were transient dysrhythmias in 15 subjects, device embolization in 4 subjects, massive bleeding in 1 subject, and overall mortality in 2 subjects.Conclusion: The number of the catheterization interventions in GUCH was 91% and ASD device closure was the most common procedure. Transcatheter intervention has a high procedural success rates (96% and low procedural-related complications.

  15. Detecting Regional Myocardial Abnormalities in Patients With Wolff-Parkinson-White Syndrome With the Use of ECG-Gated Cardiac MDCT.

    Science.gov (United States)

    Lee, Hye-Jeong; Uhm, Jae-Sun; Joung, Boyoung; Hong, Yoo Jin; Hur, Jin; Choi, Byoung Wook; Kim, Young Jin

    2016-04-01

    Myocardial dyskinesia caused by the accessory pathway and related reversible heart failure have been well documented in echocardiographic studies of pediatric patients with Wolff-Parkinson-White (WPW) syndrome. However, the long-term effects of dyskinesia on the myocardium of adult patients have not been studied in depth. The goal of the present study was to evaluate regional myocardial abnormalities on cardiac CT examinations of adult patients with WPW syndrome. Of 74 patients with WPW syndrome who underwent cardiac CT from January 2006 through December 2013, 58 patients (mean [± SD] age, 52.2 ± 12.7 years), 36 (62.1%) of whom were men, were included in the study after the presence of combined cardiac disease was excluded. Two observers blindly evaluated myocardial thickness and attenuation on cardiac CT scans. On the basis of CT findings, patients were classified as having either normal or abnormal findings. We compared the two groups for other clinical findings, including observations from ECG, echocardiography, and electrophysiologic study. Of the 58 patients studied, 16 patients (27.6%) were found to have myocardial abnormalities (i.e., abnormal wall thinning with or without low attenuation). All abnormal findings corresponded with the location of the accessory pathway. Patients with abnormal findings had statistically significantly decreased left ventricular function, compared with patients with normal findings (p syndrome. These abnormal findings might reflect the long-term effects of dyskinesia, suggesting irreversible myocardial injury that ultimately causes left ventricular dysfunction.

  16. Outcome for Fetuses with Prenatally Detected Congenital Heart Disease and Cardiac Arrhythmias in Taiwan

    Directory of Open Access Journals (Sweden)

    Sheng-Mou Hsiao

    2007-01-01

    Conclusion: Outcome for fetuses with prenatally detected CHD remains poor, with the prognosis negatively influenced by the presence of complex heart defects as well as extracardiac and chromosomal anomalies. However, prognosis is good for fetuses with cardiac arrhythmia, except with long QT syndrome or hydrops fetalis.

  17. Three-dimensional-printed cardiac prototypes aid surgical decision-making and preoperative planning in selected cases of complex congenital heart diseases: Early experience and proof of concept in a resource-limited environment

    Directory of Open Access Journals (Sweden)

    Mahesh Kappanayil

    2017-01-01

    Conclusions: 3D-printed cardiac prototypes can radically assist decision-making, planning, and safe execution of complex congenital heart surgery by improving understanding of 3D anatomy and allowing anticipation of technical challenges.

  18. Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy

    NARCIS (Netherlands)

    van der Kooi, A. J.; Bonne, G.; Eymard, B.; Duboc, D.; Talim, B.; van der Valk, M.; Reiss, P.; Richard, P.; Demay, L.; Merlini, L.; Schwartz, K.; Busch, H. F. M.; de Visser, M.

    2002-01-01

    Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy. Cases with lamin A/C mutations presenting with lipodystrophy

  19. Prophylactic milrinone for the prevention of low cardiac output syndrome and mortality in children undergoing surgery for congenital heart disease.

    Science.gov (United States)

    Burkhardt, Barbara E U; Rücker, Gerta; Stiller, Brigitte

    2015-03-25

    Children with congenital heart disease often undergo heart surgery at a young age. They are at risk for postoperative low cardiac output syndrome (LCOS) or death. Milrinone may be used to provide inotropic and vasodilatory support during the immediate postoperative period. This review examines the effectiveness of prophylactic postoperative use of milrinone to prevent LCOS or death in children having undergone surgery for congenital heart disease. Electronic and manual literature searches were performed to identify randomised controlled trials. We searched CENTRAL, MEDLINE, EMBASE and Web of Science in February 2014 and conducted a top-up search in September 2014 as well as clinical trial registries and reference lists of published studies. We did not apply any language restrictions. Only randomised controlled trials were selected for analysis. We considered studies with newborn infants, infants, toddlers, and children up to 12 years of age. Two review authors independently extracted data according to a pre-defined protocol. We obtained additional information from all study authors. Three of the five included studies compared milrinone versus levosimendan, one study compared milrinone with placebo, and one compared milrinone verus dobutamine, with 101, 242, and 50 participants, respectively. Three trials were at low risk of bias while two were at higher risk of bias. The number and definitions of outcomes were non-uniform as well. In one study comparing two doses of milrinone and placebo, there was some evidence in an overall comparison of milrinone versus placebo that milrinone lowered risk for LCOS (risk ratio (RR) 0.52, 95% confidence interval (CI) 0.28 to 0.96; 227 participants). The results from two small studies do not provide enough information to determine whether milrinone increases the risk of LCOS when compared to levosimendan (RR 1.22, 95% CI 0.32 to 4.65; 59 participants). Mortality rates in the studies were low, and there was insufficient evidence to

  20. The Perioperative Use of Dexmedetomidine in Pediatric Patients with Congenital Heart Disease: An Analysis from the Congenital Cardiac Anesthesia Society-Society of Thoracic Surgeons Congenital Heart Disease Database.

    Science.gov (United States)

    Schwartz, Lawrence I; Twite, Mark; Gulack, Brian; Hill, Kevin; Kim, Sunghee; Vener, David F

    2016-09-01

    Dexmedetomidine is a selective α-2 receptor agonist with a sedative and cardiopulmonary profile that makes it an attractive anesthetic for pediatric patients with congenital heart disease (CHD). Although several smaller, single-center studies suggest that dexmedetomidine use is gaining traction in the perioperative setting in children with CHD, there are limited multicenter data, with little understanding of the variation in use across age ranges, procedural complexity, and centers. The aim of this study was to use the Congenital Cardiac Anesthesia Society-Society of Thoracic Surgeons (CCAS-STS) registry to describe patient- and center-level variability in the use of dexmedetomidine in the perioperative setting in children with heart disease. To describe the use of dexmedetomidine in patients for CHD surgery, we analyzed all index cardiopulmonary bypass operations entered in the CCAS-STS database from 2010 to 2013. Patient and operative characteristics were compared between those who received intraoperative dexmedetomidine and those who did not. Selective outcomes associated with dexmedetomidine use were also described. Of the 12,142 operations studied, 3600 (29.6%) received perioperative dexmedetomidine (DEX) and 8542 did not receive the drug (NoDEX). Patient characteristics were different between the 2 groups with the DEX group generally exhibiting both lower patient and procedural risk factors. Patients who received dexmedetomidine were more likely to have a lower level of Society of Thoracic Surgeons mortality complexity than patient who did not receive it. Consistent with their overall lower risk profile, children in the DEX group also demonstrated improved outcomes compared with patients who did not receive dexmedetomidine. We described the growing use of dexmedetomidine in children anesthetized for surgical repair of CHD. Dexmedetomidine appears to be preferentially given to older and larger children who are undergoing less complex CHD surgery. We believe

  1. Spectrum of congenital heart defects and extracardiac malformations associated with chromosomal abnormalities: results of a seven year necropsy study

    OpenAIRE

    Tennstedt, C; Chaoui, R; Korner, H; Dietel, M

    1999-01-01

    OBJECTIVE—To analyse the spectrum of congenital heart malformations, the frequency of extracardiac malformations, and the proportion of chromosome aberrations among fetuses sent for necropsy.
MATERIAL—Necropsies were performed on 815 fetuses—448 induced abortions (55%), 220 spontaneous abortions (27%), and 147 stillbirths (18%)—during a seven year period (1991-97) in the department of pathology of the Charité Medical Centre in Berlin. A congenital heart defect was identified in 129 cases (16%...

  2. Distribution of maternal age and birth order groups in cases with unclassified multiple congenital abnormalities according to the number of component abnormalities: a national population-based case-control study.

    Science.gov (United States)

    Csermely, Gyula; Czeizel, Andrew E; Veszprémi, Béla

    2015-02-01

    Multiple congenital abnormalities are caused by chromosomal aberrations, mutant major genes and teratogens. A minor proportion of these patients are identified as syndromes but the major part belonging to the group of unclassified multiple CAs (UMCAs). The main objective of this study was to evaluate the maternal age and birth order in pregnant women who had offspring affected with UMCA. The strong association between numerical chromosomal aberrations, e.g., Down syndrome and advanced maternal age is well-known and tested here. The Hungarian Case-Control Surveillance of Congenital Abnormalities, 1980 to 1996, yielded a large population-based national data set with 22,843 malformed newborns or fetuses ("informative cases") included 1349 UMCA cases with their 2407 matched controls. Case-control comparison of maternal age and birth order was made for cases with UMCA, stratified by component numbers and their controls. In addition, 834 cases with Down syndrome were compared to 1432 matched controls. The well-known advanced maternal age with the higher risk for Down syndrome was confirmed. The findings of the study suggest that the young age of mothers associates with the higher risk of UMCA, in addition birth order 4 or more associates with the higher risk for UMCA with 2 and 3 component CAs. This study was the first to analyze the possible maternal and birth order effect for cases with UMCA, and the young age and higher birth order associated with a higher risk for UMCA. © 2014 Wiley Periodicals, Inc.

  3. Congenital oval or round window anomaly with or without abnormal facial nerve course: surgical results for 15 ears.

    Science.gov (United States)

    Thomeer, Henricus; Kunst, Henricus; Verbist, Berit; Cremers, Cor

    2012-07-01

    To describe the audiometric results in a consecutive series of patients with congenital ossicular aplasia (Class 4a) or dysplasia of the oval and/or round window (Class 4b), which might include a possible anomalous course of the facial nerve. Retrospective chart study. Tertiary referral center. A tertiary referral center study with a total of 14 patients with congenital minor ear anomalies as part of a consecutive series (n = 89) who underwent exploratory tympanotomies (15 ears). Audiometric results. In 8 of 15 ears, ossicular reconstruction was attempted. In the short term (1 mo), there was a serviceable hearing outcome (air-bone gap closure to within 25 dB) in 4 ears. However, the long-term results showed deterioration because of an increased air-bone gap in all but 1 ear. No facial nerve lesion was observed postoperatively. Congenital dysplasia or aplasia of the oval and/or round window is an uncommon congenital minor ear anomaly. Classical microsurgical opportunities are rare in this group of anomalies. Newer options for hearing rehabilitation, such as the osseointegrated passive bone conduction devices, have become viable alternatives for conventional air conduction hearing devices. In the near future, upcoming active bone conduction devices might become the most preferred surgical option. In cases in which the facial nerve is only partially overlying the oval window, a type of malleostapedotomy procedure might result in a serviceable postoperative hearing level.

  4. Congenital oval or round window anomaly with or without abnormal facial nerve course: surgical results for 15 ears.

    NARCIS (Netherlands)

    Thomeer, H.G.; Kunst, H.P.; Verbist, B.M.; Cremers, C.W.R.J.

    2012-01-01

    OBJECTIVES: To describe the audiometric results in a consecutive series of patients with congenital ossicular aplasia (Class 4a) or dysplasia of the oval and/or round window (Class 4b), which might include a possible anomalous course of the facial nerve. STUDY DESIGN: Retrospective chart study.

  5. Cardiac abnormalities assessed by non-invasive techniques in patients with newly diagnosed idiopathic inflammatory myopathies

    DEFF Research Database (Denmark)

    Diederichsen, Louise Pyndt; Simonsen, Jane Angel; Diederichsen, Axel Cosmus Pyndt

    2015-01-01

    inflammatory myopathies (IIM) by means of non-invasive techniques. METHODS: Fourteen patients with IIM (8 polymyositis, 4 dermatomyositis, 2 cancer-associated dermatomyositis) and 14 gender- and age- matched healthy control subjects were investigated. Participant assessments included a cardiac questionnaire...... in 8 (57%) of the patients compared to none of the controls (pgroup (p=0.01). Two patients had systolic dysfunction, and one diastolic dysfunction...

  6. CARDIAC STRUCTURAL AND FUNCTIONAL ABNORMALITIES IN FEMALES WITH UNTREATED HYPOPITUITARISM DUE TO SHEEHAN SYNDROME: RESPONSE TO HORMONE REPLACEMENT THERAPY.

    Science.gov (United States)

    Laway, Bashir Ahmad; Ramzan, Mahroosa; Allai, Mohd Sultan; Wani, Arshad Iqbal; Misgar, Raiz Ahmad

    2016-09-01

    Data on cardiac abnormalities in females with untreated hypopituitarism are limited. We investigated echocardiographic abnormalities in females with untreated hypopituitarism and their response to treatment. Twenty-three females with treatment-naïve hypopituitarism and 30 matched healthy controls were evaluated for cardiac structure and function. Echocardiographic evaluation was done at presentation and after achieving a euthyroid and eucortisol state. Fourteen (61%) patients had mitral regurgitation, and 11 (48%) had pericardial effusion as against none among controls. Indices of left ventricular (LV) size like LV end diastolic dimension (LVEDD; 44.5 ± 3.5 mm in cases vs. 47.6 ± 3.8 mm in controls, P = .004), and LV diastolic volume (LVEDV; 91.8 ± 18.0 mL versus 106.5 ± 20.4 mL, P = .009) were significantly lower in the SS group compared with controls. LV mass (LVM) was 70.8 ± 19.2 g in cases and 108.0 ± 33.2 g in controls (P = .02). Similarly, indices of LV systolic function like stroke volume (SV; 59.1 ± 12.0 mL in cases and 74.4 ± 15.8 mL in controls; P = .000), ejection fraction (EF; 64.3 ± 6.2 % in cases against 69.9 ± 9.2 % in controls; P = .03), and fractional shortening (FS; 34.9 ± 4.7% versus 40.1 ± 4.4%, P = .000) were significantly decreased in patients compared with controls. Cardiac abnormalities normalized with restoration of a euthyroid and eucortisol state. Pericardial effusion, mitral regurgitation, and diminished LVM are common in females with untreated hypopituitarism. ACTH = adrenocorticotrophic hormone BMI = body mass index DT = deceleration time EDV = end-diastolic volume EF = ejection fraction FS = fractional shortening GH = growth hormone IGF-1 = insulin growth factor-1 ITT = insulin tolerance test IVSd = interventricular septal diameter LH = luteinizing hormone LV = left ventricular LVEDD = LV end diastolic dimension LVEDV = LV end diastolic volume LVM = LV mass MRI = magnetic resonance imaging MVP = mitral value prolapse PPH

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

    Science.gov (United States)

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

    2018-05-01

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

  8. Comparison of Congenital Abnormalities of Infants Conceived by Assisted Reproductive Techniques versus Infants with Natural Conception in Tehran.

    Science.gov (United States)

    Farhangniya, Mansoureh; Dortaj Rabori, Eshagh; Mozafari Kermani, Ramin; Haghdoost, Ali Akbar; Bahrampour, Abbas; Bagheri, Pezhman; A L Lancaster, Paul; Ashrafi, Mahnaz; Vosough Taqi Dizaj, Ahmad; Gourabi, Hamid; Shahzadeh Fazeli, Abolhassan

    2013-10-01

    In many countries, 1 to 3% of newborn infants are conceived by assisted reproductive techniques (ART). Despite the success of ART, there is concern about the risk of congenital malformations among these infants. We report our experience to determine whether use of ART is associated with an increase in major congenital malformations or adverse pregnancy outcomes. Historical cohort study of major congenital malformations (MCM) was performed in 978 births from January 2008 to December 2010. The data for this analysis were derived from a Tehran's ART linked data file by simple sampling method. In our study, the risk of congenital malformations was compared in 326 ART infants and 652 naturally conceived (NC) infants. We also performed multiple logistic regression analyses to calculate the odds ratio (OR) and 95% confidence intervals (CI) for the independent association of ART on each outcome. We found 56 infants with major congenital malformations, these included 29 NC infants (4.4%) and 27 ART infants (8.3%). In comparison with NC infants, ART infants had a significant 1.94-fold increased risk of MCM.After adjustment for maternal age, infant's sex stillbirth, abortion and type of delivery, we found a relatively small difference in risk (OR=2.04). In this study the majority (94.3%) of all infants were normal but 5.7% of infants had at least one MCM. The prevalence rate for the intracytoplasmic sperm injection (ICSI) was 6.5% for the In vitro fertilisation (IVF) group was 15.9% or 2.73-fold higher than ICSI group (P=0.018). Also we ignore the possible role of genotype and other unknown factors in causing more malformations in ART infants. Other studies have shown a slightly increased risk of major congenital malformations in pregnancies resulting from ART. Likewise, this study reports a greater risk of MCMs in ART infants than in naturally conceived infants. We also found evidence of a difference in risk of MCMs between IVF and ICSI. Musculoskeletal and urogenital

  9. 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.

  10. Abnormal autonomic cardiac response to transient hypoxia in sickle cell anemia

    International Nuclear Information System (INIS)

    Sangkatumvong, S; Khoo, M C K; Coates, T D

    2008-01-01

    The objective of this study was to non-invasively assess cardiac autonomic control in subjects with sickle cell anemia (SCA) by tracking the changes in heart rate variability (HRV) that occur following brief exposure to a hypoxic stimulus. Five African–American SCA patients and seven healthy control subjects were recruited to participate in this study. Each subject was exposed to a controlled hypoxic stimulus consisting of five breaths of nitrogen. Time-varying spectral analysis of HRV was applied to estimate the cardiac autonomic response to the transient episode of hypoxia. The confounding effects of changes in respiration on the HRV spectral indices were reduced by using a computational model. A significant decrease in the parameters related to parasympathetic control was detected in the post-hypoxic responses of the SCA subjects relative to normal controls. The spectral index related to sympathetic activity, on the other hand, showed a tendency to increase the following hypoxic stimulation, but the change was not significant. This study suggests that there is some degree of cardiovascular autonomic dysfunction in SCA that is revealed by the response to transient hypoxia

  11. 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.

  12. Hypertension, obesity, and coronary artery disease in the survivors of congenital heart disease.

    Science.gov (United States)

    Roche, S Lucy; Silversides, Candice K

    2013-07-01

    Obesity, hypertension, and coronary artery disease are prevalent in the general population and well recognized as contributors to cardiac morbidity and mortality. With surgical and medical advances, there is a growing and aging population with congenital heart disease who are also at risk of developing these comorbidities. In addition, some congenital cardiac lesions predispose patients to conditions such as hypertension or coronary artery disease. The effect of these comorbidities on the structurally abnormal heart is not well understood, but might be very important, especially in those with residual abnormalities. Thus, in addition to surveillance for and treatment of late complications it is important for the congenital cardiologist to consider and aggressively manage acquired comorbidities. In this review we explore the prevalence of hypertension, obesity, and coronary artery disease, discuss congenital lesions that predispose to these conditions and review management strategies for this unique population. Copyright © 2013 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.

  13. Cardiac abnormalities in diabetic patients with mutation in the mitochondrial tRNA Leu(UUR)Gene

    International Nuclear Information System (INIS)

    Ueno, Hiroshi; Shiotani, Hideyuki

    1999-01-01

    An A-to-G transition at position 3243 of the mitochondrial DNA is known to be a pathogenic factor for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), diabetes and cardiomyopathy. This mutation causes dysfunction of the central nervous system in MELAS. Because the heart, as well as the brain and nervous system, is highly dependent on the energy produced by mitochondrial oxidation, these tissues are more vulnerable to mitochondrial defects. Cardiac abnormalities were assessed in 10 diabetic patients associated with this mutation using echocardiography and 123 I-metaiodobenzylguanidine (MIBG) scintigraphy, and compared with 19 diabetic patients without the mutation. Duration of diabetes, therapy, control of blood glucose and diabetic complications, such as diabetic retinopathy and nephropathy, were not different between the 2 groups. Diabetic patients with the mutation had a significantly thicker interventricular septum (16.8±3.7 vs 11.0±1.6 mm, p 0.05). In conclusion, left ventricular hypertrophy with or without abnormal wall motion and severely reduced MIBG uptake may be characteristic in diabetic patients with a mutation in the mitochondrial tRNA Leu(UUR) gene. (author)

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

    International Nuclear Information System (INIS)

    Ou, Phalla; Marini, Davide; Celermajer, David S.; Agnoletti, Gabriella; Vouhe, Pascal; Sidi, Daniel; Bonnet, Damien; Brunelle, Francis

    2009-01-01

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

  15. Possible influences on the expression of X chromosome-linked dystrophin abnormalities by heterozygosity for autosomal recessive Fukuyama congenital muscular dystrophy

    Energy Technology Data Exchange (ETDEWEB)

    Beggs, A.H.; Neumann, P.E.; Anderson, M.S.; Kunkel, L.M. (Harvard Medical School, Boston, MA (United States)); Arahata, Kiichi; Arikawa, Eri; Nonaka, Ikuya (National Inst. of Neuroscience, Tokyo (Japan))

    1992-01-15

    Abnormalities of dystrophin, a cytoskeletal protein of muscle and nerve, are generally considered specific for Duchenne and Becker muscular dystrophy. However, several patients have recently been identified with dystrophin deficiency who, before dystrophin testing, were considered to have Fukuyama congenital muscular dystrophy (FCMD) on the basis of clinical findings. Epidemiologic data suggest that only 1/3,500 males with autosomal recessive FCMD should have abnormal dystrophin. To explain the observation of 3/23 FCMD males with abnormal dystrophin, the authors propose that dystrophin and the FCMD gene product interact and that the earlier onset and greater severity of these patients' phenotype (relative to Duchenne muscular dystrophy) are due to their being heterozygous for the FCMD mutation in addition to being hemizygous for Duchenne muscular dystrophy, a genotype that is predicted to occur in 1/175,000 Japanese males. This model may help explain the genetic basis for some of the clinical and pathological variability seen among patients with FCMD, and it has potential implications for understanding the inheritance of other autosomal recessive disorders in general. For example, sex ratios for rare autosomal recessive disorders caused by mutations in proteins that interact with X chromosome-linked gene products may display predictable deviation from 1:1.

  16. Is an Abnormal ECG Just the Tip of the ICE-berg? Examining the Utility of Electrocardiography in Detecting Methamphetamine-Induced Cardiac Pathology.

    Science.gov (United States)

    Paratz, Elizabeth D; Zhao, Jessie; Sherwen, Amanda K; Scarlato, Rose-Marie; MacIsaac, Andrew I

    2017-07-01

    Methamphetamine use is escalating in Australia and New Zealand, with increasing emergency department attendance and mortality. Cardiac complications play a large role in methamphetamine-related mortality, and it would be informative to assess the frequency of abnormal electrocardiograms (ECGs) amongst methamphetamine users. To determine the frequency and severity of ECG abnormalities amongst methamphetamine users compared to a control group. We conducted a retrospective cohort analysis on 212 patients admitted to a tertiary hospital (106 patients with methamphetamine use, 106 age and gender-matched control patients). Electrocardiograms were analysed according to American College of Cardiology guidelines. Mean age was 33.4 years, with 73.6% male gender, with no significant differences between groups in smoking status, ECG indication, or coronary angiography rates. Methamphetamine users were more likely to have psychiatric admissions (22.6% vs 1.9%, pmethamphetamine users, particularly tachyarrhythmias (38.7% vs 26.4%, pmethamphetamine users than age and gender-matched controls. Due to the high frequency of abnormalities, ECGs should be performed in all methamphetamine users who present to hospital. Methamphetamine users with abnormal ECGs should undergo further cardiac investigations. Copyright © 2016 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). All rights reserved.

  17. Congenital malformations, chromosomal abnormalities and perinatal results in IVF/ICSI newborns resulting from very poor quality embryos: a case-control study.

    Science.gov (United States)

    Mendoza, R; Perez, S; de Los Santos, M J; Larreategui, Z; Ayerdi, F; Expósito, A; Burgos, J; Martínez Indart, L; Pijoan, J I; Matorras, R

    2015-01-01

    To explore whether the transfer of very poor quality (VPQ) embryos is associated with an increase in congenital malformations or perinatal problems. In this retrospective case-control study, 74 children conceived by in vitro fertilization (IVF) and/or intracytoplasmic sperm injection (ICSI) resulting exclusively from the transfer of VPQ embryos were compared with 1,507 children born after the transfer of top morphological quality (TQ) embryos over the same period of time in the same centers. The prevalence of birth defects in children resulting from VPQ embryos was 1.35% (1/74), similar to the 1.72% (26/1,507) when only TQ embryos were transferred; the rate of chromosomal abnormalities detected was also similar (0.0 vs. 0.4%), as was perinatal mortality. After correcting for multiplicity (higher in the TQ group), the aforementioned parameters remained similar in the two groups. Congenital malformations and perinatal complications do not seem to be more common in children born after transfer of VPQ embryos in IVF/ICSI cycles. Given our preliminary data, which need to be confirmed in much larger studies, when only VPQ embryos are available for transfer in IVF/ICSI cycles, we do not believe that they should be discarded with the intention of avoiding birth defects or perinatal complications. © 2015 S. Karger AG, Basel.

  18. The cardiac proteome in patients with congenital ventricular septal defect: A comparative study between right atria and right ventricles.

    Science.gov (United States)

    Bond, A R; Iacobazzi, D; Abdul-Ghani, S; Ghorbel, M T; Heesom, K J; George, S J; Caputo, M; Suleiman, M-S; Tulloh, R M

    2018-03-20

    Right ventricle (RV) remodelling occurs in neonatal patients born with ventricular septal defect (VSD). The presence of a defect between the two ventricles allows for shunting of blood from the left to right side. The resulting RV hypertrophy leads to molecular remodelling which has thus far been largely investigated using right atrial (RA) tissue. In this study we used proteomic and phosphoproteomic analysis in order to determine any difference between the proteomes for RA and RV. Samples were therefore taken from the RA and RV of five infants (0.34 ± 0.05 years, mean ± SEM) with VSD who were undergoing cardiac surgery to repair the defect. Significant differences in protein expression between RV and RA were seen. 150 protein accession numbers were identified which were significantly lower in the atria, whereas none were significantly higher in the atria compared to the ventricle. 19 phosphorylation sites (representing 19 phosphoproteins) were also lower in RA. This work has identified differences in the proteome between RA and RV which reflect differences in contractile activity and metabolism. As such, caution should be used when drawing conclusions based on analysis of the RA and extrapolating to the hypertrophied RV. RV hypertrophy occurs in neonatal patients born with VSD. Very little is known about how the atria responds to RV hypertrophy, especially at the protein level. Access to tissue from age-matched groups of patients is very rare, and we are in the unique position of being able to get tissue from both the atria and ventricle during reparative surgery of these infants. Our findings will be beneficial to future research into heart chamber malformations in congenital heart defects. Copyright © 2018. Published by Elsevier B.V.

  19. Evaluation of left ventricular volumes in patients with congenital heart disease and abnormal left ventricular geometry. Comparison of MRI and transthoracic 3-dimensional echocardiography

    International Nuclear Information System (INIS)

    Gutberlet, M.; Grothoff, M.; Roettgen, R.; Lange, P.; Felix, R.; Abdul-Khaliq, H.; Schroeter, J.; Schmitt, B.; Vogel, M.

    2003-01-01

    Purpose: To assess the new method of 3-dimensional echocardiography in comparison to the 'gold standard' MRI as to its ability to calculate left ventricular volumes in patients with congenital heart disease. Materials and methods: Eighteen patients between the ages of 3.9 to 37.3 years (mean: 12.8±9.7) with a geometrically abnormal left ventricle were examined using a 1.5 T scanner with a fast gradient-echo sequence (TR=14 ms, TE=2.6-2.9 ms, FOV=300-400 mm, flip angle=20 , matrix=128:256, slice thickness=5 mm, retrospective gating) in multislice-multiphase technique. Transthoracic 3D-echocardiography was performed with a 3.5 MHz transducer and a Tomtec trademark (Munich, Germany) system for 3D reconstruction. Results: Volume calculation was possible in all patients with 3D-echocardiography, but the muscle mass calculation only succeeded in 11 to 18 patients (61%) due to inadequate visualization of the entire myocardium. Comparing MRI and 3D-echocardiography, the correlation was r=0.97 for the end-systolic volumes, r=0.98 for the end-diastolic volumes, r=0.79 for the end-systolic muscle mass and r=0.77 for the end-diastolic muscle mass. The agreement between both methods was considered good for the calculated end-diastolic volumes and sufficient for the calculated end-systolic volumes. The muscle mass calculations showed larger differences especially for the end-systolic mass. Mean intraobserver variability was 18.6% for end-systolic and 8.3% for end-diastolic volumes. Conclusion: In patients with an abnormal left ventricular configuration due to congenital heart disease, the new method of 3D-echocardiography is sufficient for volume calculations in preselected patients. The high intraobserver variability is still a limitation of transthoracic 3D-echocardiography in comparison to MRI. (orig.) [de

  20. Are ECG abnormalities in Noonan syndrome characteristic for the syndrome?

    Science.gov (United States)

    Raaijmakers, R; Noordam, C; Noonan, J A; Croonen, E A; van der Burgt, C J A M; Draaisma, J M T

    2008-12-01

    Of all patients with Noonan syndrome, 50-90% have one or more congenital heart defects. The most frequent occurring are pulmonary stenosis (PS) and hypertrophic cardiomyopathy. The electrocardiogram (ECG) of a patient with Noonan syndrome often shows a characteristic pattern, with a left axis deviation, abnormal R/S ratio over the left precordium, and an abnormal Q wave. The objective of this study was to determine if these ECG characteristics are an independent feature of the Noonan syndrome or if they are related to the congenital heart defect. A cohort study was performed with 118 patients from two university hospitals in the United States and in The Netherlands. All patients were diagnosed with definite Noonan syndrome and had had an ECG and echocardiography. Sixty-nine patients (58%) had characteristic abnormalities of the ECG. In the patient group without a cardiac defect (n = 21), ten patients had a characteristic ECG abnormality. There was no statistical relationship between the presence of a characteristic ECG abnormality and the presence of a cardiac defect (p = 0.33). Patients with hypertrophic cardiomyopathy had more ECG abnormalities in total (p = 0.05), without correlation with a specific ECG abnormality. We conclude that the ECG features in patients with Noonan syndrome are characteristic for the syndrome and are not related to a specific cardiac defect. An ECG is very useful in the diagnosis of Noonan syndrome; every child with a Noonan phenotype should have an ECG and echocardiogram for evaluation.

  1. Identifying drug-induced repolarization abnormalities from distinct ECG patterns in congenital long QT syndrome: a study of sotalol effects on T-wave morphology

    DEFF Research Database (Denmark)

    Graff, Claus; Andersen, Mads P; Xue, Joel Q

    2009-01-01

    BACKGROUND: The electrocardiographic QT interval is used to identify drugs with potential harmful effects on cardiac repolarization in drug trials, but the variability of the measurement can mask drug-induced ECG changes. The use of complementary electrocardiographic indices of abnormal repolariz......BACKGROUND: The electrocardiographic QT interval is used to identify drugs with potential harmful effects on cardiac repolarization in drug trials, but the variability of the measurement can mask drug-induced ECG changes. The use of complementary electrocardiographic indices of abnormal...... are typical ECG patterns in LQT2. Blinded to labels, the new morphology measures were tested in a third group of 39 healthy subjects receiving sotalol. Over 3 days the sotalol group received 0, 160 and 320 mg doses, respectively, and a 12-lead Holter ECG was recorded for 22.5 hours each day. Drug...... with QTcF, p ECG patterns in LQT2 carriers effectively quantified repolarization changes induced by sotalol. Further studies are needed to validate whether this measure has...

  2. Predictive Value of Intraoperative Thromboelastometry for the Risk of Perioperative Excessive Blood Loss in Infants and Children Undergoing Congenital Cardiac Surgery: A Retrospective Analysis.

    Science.gov (United States)

    Kim, Eunhee; Shim, Haeng Seon; Kim, Won Ho; Lee, Sue-Young; Park, Sun-Kyung; Yang, Ji-Hyuk; Jun, Tae-Gook; Kim, Chung Su

    2016-10-01

    Laboratory hemostatic variables and parameters of rotational thromboelastometry (ROTEM) were evaluated for their ability to predict perioperative excessive blood loss (PEBL) after congenital cardiac surgery. Retrospective and observational. Single, large university hospital. The study comprised 119 children younger than 10 years old undergoing congenital cardiac surgery with cardiopulmonary bypass (CPB). Intraoperative excessive blood loss was defined as estimated blood loss≥50% of estimated blood volume (EBV). Postoperative excessive blood loss was defined as measured postoperative chest tube and Jackson-Pratt drainage≥30% of EBV over 12 hours or≥50% of EBV over 24 hours in the intensive care unit. PEBL was defined as either intraoperative or postoperative excessive blood loss. External temogram (EXTEM) and fibrinogen temogram (FIBTEM) were analyzed before and after CPB with ROTEM and laboratory hemostatic variables. Multivariate logistic regression was performed. Incidence of PEBL was 19.3% (n = 23). Independent risk factors for PEBL were CPB time>120 minutes, post-CPB FIBTEM alpha-angle, clot firmness after 10 minutes20%. Laboratory hemostatic variables were not significant in multivariate analysis. The risk prediction model was developed from the results of multivariate analysis. The area under the receiver operating characteristic curve was 0.94 (95% confidence interval: 0.90-0.99). Post-CPB ROTEM may be useful for predicting both intraoperative and postoperative excessive blood loss in congenital cardiac surgery. This study provided an accurate prediction model for PEBL and supported intraoperative transfusion guidance using post-CPB FIBTEM-A10 and EXTEM-A10. Copyright © 2016 Elsevier Inc. All rights reserved.

  3. Autonomic, locomotor and cardiac abnormalities in a mouse model of muscular dystrophy: targeting the renin-angiotensin system.

    Science.gov (United States)

    Sabharwal, Rasna; Chapleau, Mark W

    2014-04-01

    New Findings What is the topic of this review? This symposium report summarizes autonomic, cardiac and skeletal muscle abnormalities in sarcoglycan-δ-deficient mice (Sgcd-/-), a mouse model of limb girdle muscular dystrophy, with emphasis on the roles of autonomic dysregulation and activation of the renin-angiotensin system at a young age. What advances does it highlight? The contributions of the autonomic nervous system and the renin-angiotensin system to the pathogenesis of muscular dystrophy are highlighted. Results demonstrate that autonomic dysregulation precedes and predicts later development of cardiac dysfunction in Sgcd-/- mice and that treatment of young Sgcd-/- mice with the angiotensin type 1 receptor antagonist losartan or with angiotensin-(1-7) abrogates the autonomic dysregulation, attenuates skeletal muscle pathology and increases spontaneous locomotor activity. Muscular dystrophies are a heterogeneous group of genetic muscle diseases characterized by muscle weakness and atrophy. Mutations in sarcoglycans and other subunits of the dystrophin-glycoprotein complex cause muscular dystrophy and dilated cardiomyopathy in animals and humans. Aberrant autonomic signalling is recognized in a variety of neuromuscular disorders. We hypothesized that activation of the renin-angiotensin system contributes to skeletal muscle and autonomic dysfunction in mice deficient in the sarcoglycan-δ (Sgcd) gene at a young age and that this early autonomic dysfunction contributes to the later development of left ventricular (LV) dysfunction and increased mortality. We demonstrated that young Sgcd-/- mice exhibit histopathological features of skeletal muscle dystrophy, decreased locomotor activity and severe autonomic dysregulation, but normal LV function. Autonomic regulation continued to deteriorate in Sgcd-/- mice with age and was accompanied by LV dysfunction and dilated cardiomyopathy at older ages. Autonomic dysregulation at a young age predicted later development of

  4. Evaluation of congenital heart disease by three-dimensional MR imaging

    International Nuclear Information System (INIS)

    Vannier, M.W.; Gutierrez, F.R.; Canter, C.E.; Yoffie, R.L.; Hildebolt, C.F.

    1988-01-01

    In an evaluation of the detectability of intra-and extracardiac morphologic defects with electrocardiographically gated magnetic resonance (MR) imaging, 100 patients were studied, including ten without and 90 with abnormalities. The abnormalities included septal defects, tetrology of Fallot, pulmonary atresia, transposition of the great vessels, and others. The patients with abnormalities were studied angiographically and with echocardiographic analyses. Two radiologists with cardiac MR imaging experience evaluated the scans in a blinded fashion, and the results were analyzed by means of receiver operating characteristic analysis. The diagnostic value of routine two-dimensional cardiac MR imaging was compared with that of three-dimensional reconstruction imaging and with the results of cardiac catheterization and echocardiography. The reported sensitivity and specificity of echocardiography in the detection of congenital heart disease is comparable to that of MR imaging. The differences in diagnostic value between various modalities for the imaging of congenital heart disease may be determined from the results of the preliminary series

  5. Congenital Unilateral Hypoplasia of Depressor Anguli Oris

    Directory of Open Access Journals (Sweden)

    Seckin O. Ulualp

    2012-01-01

    Full Text Available Objectives. Asymmetric facial appearance may originate from abnormalities of facial musculature or facial innervation. We describe clinical features of congenital hypoplasia of depressor anguli oris muscle in a child. Material and Methods. Chart of a 10-month-old female referred to a tertiary care pediatric hospital for assessment of facial paralysis was reviewed. Data included relevant history and physical examination, diagnostic work up, and management. Results. The child presented with asymmetric movement of lower lip since birth. Asymmetry of lower lip was more pronounced when she smiled and cried. Rest of the face movement was symmetric. On examination, the face appeared symmetric at rest. The child had inward deviation of right lower lip when she smiled. Facial nerve function, as determined by frowning/forehead, wrinkling, eye closure, nasolabial fold depth, and tearing, was symmetric. Magnetic resonance imaging of the temporal bones and internal auditory canals were within normal limits. Echocardiogram did not show cardiac abnormality. Auditory brainstem response showed no abnormality. Conclusions. Congenital hypoplasia of depressor anguli oris is a rare anomaly that causes asymmetric crying face. Pediatricians and otolaryngologists need to be cognizant of cardiac, head and neck, and central nervous system anomalies associated with congenital unilateral hypoplasia of depressor anguli oris.

  6. Cardiac abnormalities in diabetic patients with mutation in the mitochondrial tRNA {sup Leu(UUR)}Gene

    Energy Technology Data Exchange (ETDEWEB)

    Ueno, Hiroshi [Hyogo Medical Center for Adults, Akashi (Japan); Shiotani, Hideyuki

    1999-11-01

    An A-to-G transition at position 3243 of the mitochondrial DNA is known to be a pathogenic factor for mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS), diabetes and cardiomyopathy. This mutation causes dysfunction of the central nervous system in MELAS. Because the heart, as well as the brain and nervous system, is highly dependent on the energy produced by mitochondrial oxidation, these tissues are more vulnerable to mitochondrial defects. Cardiac abnormalities were assessed in 10 diabetic patients associated with this mutation using echocardiography and {sup 123}I-metaiodobenzylguanidine (MIBG) scintigraphy, and compared with 19 diabetic patients without the mutation. Duration of diabetes, therapy, control of blood glucose and diabetic complications, such as diabetic retinopathy and nephropathy, were not different between the 2 groups. Diabetic patients with the mutation had a significantly thicker interventricular septum (16.8{+-}3.7 vs 11.0{+-}1.6 mm, p<0.001) than those without the mutation. Fractional shortening was lower in diabetic patients with the mutation than those without it (30.7{+-}7.0 vs 42.5{+-}6.6, p<0.001). MIBG uptake on the delayed MIBG image was significantly lower in diabetic patients with the mutation than in those without the mutation (mean value of the heart to mediastinum ratio: 1.6{+-}0.2 vs 2.0{+-}0.4, p>0.05). In conclusion, left ventricular hypertrophy with or without abnormal wall motion and severely reduced MIBG uptake may be characteristic in diabetic patients with a mutation in the mitochondrial tRNA {sup Leu(UUR)} gene. (author)

  7. 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.

  8. Congenital heart disease and chromossomopathies detected by the karyotype

    Science.gov (United States)

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

    2014-01-01

    OBJECTIVE: To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. DATA SOURCES: Scientific articles were searched in MEDLINE database, using the descriptors "karyotype" OR "chromosomal" OR "chromosome" AND "heart defects, congenital". The research was limited to articles published in English from 1980 on. DATA SYNTHESIS: Congenital heart disease is characterized by an etiologically heterogeneous and not well understood group of 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. PMID:25119760

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

    International Nuclear Information System (INIS)

    Chandrashekhar, Guruprasadh; Sodhi, Kushaljit Singh; Saxena, Akshay Kumar; Rohit, Manoj Kumar; Khandelwal, Niranjan

    2012-01-01

    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.

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

    Directory of Open Access Journals (Sweden)

    Satoshi Kurokawa

    2014-04-01

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

  11. Whole exome sequencing in 342 congenital cardiac left sided lesion cases reveals extensive genetic heterogeneity and complex inheritance patterns

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    Alexander H. Li

    2017-10-01

    Full Text Available Abstract Background Left-sided lesions (LSLs account for an important fraction of severe congenital cardiovascular malformations (CVMs. The genetic contributions to LSLs are complex, and the mutations that cause these malformations span several diverse biological signaling pathways: TGFB, NOTCH, SHH, and more. Here, we use whole exome sequence data generated in 342 LSL cases to identify likely damaging variants in putative candidate CVM genes. Methods Using a series of bioinformatics filters, we focused on genes harboring population-rare, putative loss-of-function (LOF, and predicted damaging variants in 1760 CVM candidate genes constructed a priori from the literature and model organism databases. Gene variants that were not observed in a comparably sequenced control dataset of 5492 samples without severe CVM were then subjected to targeted validation in cases and parents. Whole exome sequencing data from 4593 individuals referred for clinical sequencing were used to bolster evidence for the role of candidate genes in CVMs and LSLs. Results Our analyses revealed 28 candidate variants in 27 genes, including 17 genes not previously associated with a human CVM disorder, and revealed diverse patterns of inheritance among LOF carriers, including 9 confirmed de novo variants in both novel and newly described human CVM candidate genes (ACVR1, JARID2, NR2F2, PLRG1, SMURF1 as well as established syndromic CVM genes (KMT2D, NF1, TBX20, ZEB2. We also identified two genes (DNAH5, OFD1 with evidence of recessive and hemizygous inheritance patterns, respectively. Within our clinical cohort, we also observed heterozygous LOF variants in JARID2 and SMAD1 in individuals with cardiac phenotypes, and collectively, carriers of LOF variants in our candidate genes had a four times higher odds of having CVM (odds ratio = 4.0, 95% confidence interval 2.5–6.5. Conclusions Our analytical strategy highlights the utility of bioinformatic resources, including human

  12. Rastreamento Pré-natal de Anormalidades Cardíacas: Papel da Ultra–sonografia Obstétrica de Rotina renatal Screening of Cardiac Abnormalities: The Role of Routine Obstetrical Ultrasound

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    Tzvi Bacaltchuk

    2001-10-01

    estudo ecográfico, ao passo que apenas 3,4% dos pacientes sem suspeita pré-natal apresentaram alterações do ritmo (p=0,009. Constituíram fatores comparativos significantes entre o grupo com suspeita pré-natal e o sem suspeita a paridade (p=0,029, o parto cesáreo (p=0,006, a internação em unidade de tratamento intensivo (p=0,046 e a escolaridade paterna (p=0,014. À análise multivariada, apenas a presença de alteração do ritmo cardíaco durante a ultra-sonografia obstétrica mostrou-se como variável independente associada à suspeita pré-natal de anormalidade cardíaca. Conclusões: a ultra-sonografia obstétrica de rotina ainda tem sido subutilizada no rastreamento pré-natal de cardiopatias congênitas. O treinamento dirigido dos ultra-sonografistas e a conscientização do meio obstétrico e da própria população podem ser os instrumentos para aumentar a eficácia deste método.Purpose: to evaluate the role of routine obstetrical ultrasound scan in suspecting the presence of fetal congenital heart diseases and severe arrhythmias, as well as the factors involved in its accuracy. Methods: the sample was made up of 77 neonates and infants hospitalized at the Institute of Cardiology of Rio Grande do Sul from May to October of 2000, with confirmed postnatal diagnosis of structural heart disease or severe arrhythmia, whose mothers had been submitted to at least one obstetrical ultrasound scan after 18 weeks of gestation. After informed consent, a customized standard questionnaire was used. Categorical variables were compared using chi² test or Fisher's exact test and a logistic regression model was used to determine independent variables possibly involved in the prenatal suspicion of cardiac abnormalities. Results: in 19 patients (24.6%, obstetrical ultrasound was able to rise prenatal suspicion of structural or rhythm abnormalities. Considering only congenital heart diseases, this prevalence was 19.2% (14/73. In 73.7% of these cases, the cardiac disorder

  13. Congenital portosystemic venous connections and other abdominal venous abnormalities in patients with polysplenia and functionally univentricular heart disease: a case series and literature review.

    Science.gov (United States)

    McElhinney, Doff B; Marx, Gerald R; Newburger, Jane W

    2011-01-01

    Published case reports suggest that congenital portosystemic venous connections (PSVC) and other abdominal venous anomalies may be relatively frequent and potentially important in patients with polysplenia syndrome. Our objective was to investigate the frequency and range of portal and other abdominal systemic venous anomalies in patients with polysplenia and inferior vena cava (IVC) interruption who underwent a cavopulmonary anastomosis procedure at our center, and to review the published literature on this topic and the potential clinical importance of such anomalies. Retrospective cohort study and literature review were used. Among 77 patients with heterotaxy, univentricular heart disease, and IVC interruption who underwent a bidirectional Glenn and/or modified Fontan procedure, pulmonary arteriovenous malformations were diagnosed in 33 (43%). Bilateral superior vena cavas were present in 42 patients (55%). Despite inadequate imaging in many patients, a partial PSVC, dual IVCs, and/or renal vein anomalies were detected in 15 patients (19%). A PSVC formed by a tortuous vessel running from the systemic venous system to the extrahepatic portal vein was found in six patients (8%). Abdominal venous anomalies other than PSVC were documented in 13 patients (16%), including nine (12%) with some form of duplicated IVC system, with a large azygous vein continuing to the superior vena cava and a parallel, contralateral IVC of similar or smaller size, and seven with renal vein anomalies. In patients with a partial PSVC or a duplicate IVC that connected to the atrium, the abnormal connection allowed right-to-left shunting. PSVC and other abdominal venous anomalies may be clinically important but under-recognized in patients with IVC interruption and univentricular heart disease. In such patients, preoperative evaluation of the abdominal systemic venous system may be valuable. More data are necessary to determine whether there is a pathophysiologic connection between the

  14. What's New in Congenital Scoliosis?

    Science.gov (United States)

    Pahys, Joshua M; Guille, James T

    2018-03-01

    36 papers were selected for review based upon new findings. Classic manuscripts on congenital scoliosis are also included to provide sufficient background information. Congenital scoliosis represents a wide range of pathology from the simple, stable hemivertebra to the complex, progressive spinal deformity with chest wall abnormalities and associated cardiac, renal, and neural axis anomalies. This paper reviews the natural history and associated anomalies with congenital scoliosis as well as the most up-to-date classification schemes and various treatment options for the care of this challenging patient population. Level 5.

  15. Congenital Complete Tracheal Ring in a Neonate: A Case Report

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    Esra ARUN ÖZER

    2017-09-01

    Full Text Available Abnormalities of the upper airway tract lead to congenital high airway obstruction and may complicate neonatal airway management in the delivery room. Congenital complete tracheal rings are a rare and unusual tracheal anomaly, usually presenting in the neonate or infant as respiratory distress. The clinical presentation can vary from almost asymptomatic patients to near-fatal airway obstruction. It may exist as an isolated entity, or in association with other congenital malformations, in particular, cardiac anomalies along with vascular rings and pulmonary slings. Other associated anomalies have also been reported, for example, chromosomal anomalies, malformation of other parts of the respiratory tract, esophagus and skeletal systems. Here, we report an extreme case of VACTERL/TACRD association presented with congenital complete tracheal ring, encephalocele, bilateral radial agenesis with absent thumbs, equinovalgus deformity on right foot, low-set ears and micrognathia.

  16. Association between abnormal myocardial fatty acid metabolism and cardiac-derived death among patients undergoing hemodialysis: results from a cohort study in Japan.

    Science.gov (United States)

    Moroi, Masao; Tamaki, Nagara; Nishimura, Masato; Haze, Kazuo; Nishimura, Tsunehiko; Kusano, Eiji; Akiba, Takashi; Sugimoto, Tokuichiro; Hase, Hiroki; Hara, Kazuhiro; Nakata, Tomoaki; Kumita, Shinichiro; Nagai, Yoji; Hashimoto, Akiyoshi; Momose, Mitsuru; Miyakoda, Keiko; Hasebe, Naoyuki; Kikuchi, Kenjiro

    2013-03-01

    Detecting myocardial ischemia in hemodialysis patients is crucial given the high incidence of silent ischemia and the high cardiovascular mortality rates. Abnormal myocardial fatty acid metabolism as determined by imaging with (123)I-labeled BMIPP (β-methyl iodophenyl-pentadecanoic acid) might be associated with cardiac-derived death in hemodialysis patients. Prospective observational study. Asymptomatic hemodialysis patients with one or more cardiovascular risk factors, but without known coronary artery disease, were followed up for 3 years at 48 Japanese hospitals (406 men, 271 women; mean age, 64 years). Baseline BMIPP summed scores semiquantified using a 17-segment 5-point system (normal, 0; absent, 4). Cardiac-derived death, including cardiac and sudden death. HRs were estimated using a Cox model for associations between BMIPP summed scores and cardiac-derived death, adjusting for potential confounders of age, sex, body mass index, dialysis duration, and cardiovascular risk factors. Rates of all-cause mortality and cardiac-derived death were 18.5% and 6.8%, respectively. Cardiac-derived death (acute myocardial infarction [n = 10], congestive heart failure [n = 13], arrhythmia [n = 2], valvular heart disease [n = 1], and sudden death [n = 20]) accounted for 36.8% of all-cause deaths. Cardiac-derived death (n = 46) was associated with age, history of heart failure, and BMIPP summed scores of 4 or higher (HR, 2.9; P death-free survival rates were 95.7%, 90.6%, and 78.8% when BMIPP summed scores were 3 or lower, 4-8, and 9 or higher, respectively. BMIPP summed score also was a predictor of all-cause death (HR, 1.6; P = 0.009). Sudden death of unknown cause was considered to have been cardiac derived, although a coronary origin was not confirmed. Abnormal myocardial fatty acid metabolism is associated with cardiac-derived death in hemodialysis patients. BMIPP single-proton emission computed tomography appears clinically useful for predicting cardiac-derived death

  17. 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.

    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

  18. Congenital heat disease

    International Nuclear Information System (INIS)

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

    1990-01-01

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

  19. Cardiac abnormalities in the acquired immunodeficiency syndrome. A prospective study with a clinical-pathological correlation in twenty-one adult patients

    Directory of Open Access Journals (Sweden)

    Herdy Gesmar Volga Haddad

    1999-01-01

    Full Text Available OBJECTIVE - To evaluate the cardiac abnormalities and their evolution during the course of the acquired immunodeficiency syndrome, as well as to correlate clinical and pathological data. METHODS - Twenty-one patients, admitted to the hospital with the diagnosis of acquired immunodeficiency syndrome, were prospectively studied and followed until their death. Age ranged from 19 to 42 years (17 males. ECG and echocardiogram were also obtained every six months. After death, macro- and microscopic examinations were also performed. RESULTS - The most frequent causes of referral to the hospital were: diarrhea or repeated pneumonias, tuberculosis, toxoplasmosis or Kaposi sarcoma. The most frequent findings were acute or chronic pericarditis (42% and dilated cardiomyopathy (19%. Four patients died of cardiac problems: infective endocarditis, pericarditis with pericardial effusion, bacterial myocarditis and infection by Toxoplasma gondii. CONCLUSION - Severe cardiac abnormalities were the cause of death in some patients. In the majority of the patients, a good correlation existed between clinical and anatomical-pathological data. Cardiac evaluation was important to detect early manifestations and treat them accordingly, even in asymptomatic patients.

  20. Patent Ductus Arteriosus Associated with Congenital Anomaly of Coronary Artery

    OpenAIRE

    Maleki, Majid; Azizian, Nassrin; Esmaeilzadeh, Maryam; Moradi, Bahieh

    2013-01-01

    We reported a case of patent ductus arteriosus (PDA) with congenital anomaly of coronary arteries as abnormal origin of right coronary artery (RCA) and left coronary artery (LCA) from a single ostium of the right coronary sinus. A 21-year-old man referred to our institution for evaluation of cardiac murmur. He has suffered from palpitation and atypical chest pain for three months. On physical examination, a continuous murmur was heard in the second left parasternal space. Transthoracic echoca...

  1. Comprehensive blood conservation program in a new congenital cardiac surgical program allows bloodless surgery for the Jehovah Witness and a reduction for all patients.

    Science.gov (United States)

    Olshove, Vincent; Berndsen, Nicole; Sivarajan, Veena; Nawathe, Pooja; Phillips, Alistair

    2018-04-01

    Cardiac surgery on Jehovah's Witnesses (JW) can be challenging, given the desire to avoid blood products. Establishment of a blood conservation program involving the pre-, intra- and post-operative stages for all patients may lead to a minimized need for blood transfusion in all patients. Pre-operatively, all JW patients were treated with high dose erythropoietin 500 IU/kg twice a week. JW patients were compared to matching non-JW patients from the congenital cardiac database, two per JW to serve as control. Blood use, ventilation time, bypass time, pre-operative hematocrit, first in intensive care unit (ICU) and at discharge and 24 hour chest drainage were compared. Pre-operative huddle, operating room huddle and post-operative bedside handoff were done with the congenital cardiac surgeon, perfusionist, anesthesiologist and intensive care team in all patients for goal alignment. Five JW patients (mean weight 24.4 ± 25.0 Kg, range 6.3 - 60 Kg) were compared to 10 non-JW patients (weight 22.0 ± 22.8 Kg, range 6.2 - 67.8 Kg). There was no difference in bypass, cross-clamp, time to extubation (0.8 vs. 2.1 hours), peak inotrope score (2.0 vs. 2.3) or chest drainage. No JW patient received a blood product compared to 40% of non-JW. The pre-operative hematocrit (Hct) was statistically greater for the JW patients (46.1 ± 3.3% vs. 36.3 ± 4.7%, pconservation techniques across the continuum of care allowed bloodless surgery for JW and non-JW patients alike. Blood conservation is a team sport and to make significant strides requires participation and input by all care providers.

  2. The morphology of the coronary sinus in patients with congenitally corrected transposition: implications for cardiac catheterisation and re-synchronisation therapy.

    Science.gov (United States)

    Aiello, Vera D; Ferreira, Flávia C N; Scanavacca, Mauricio I; Anderson, Robert H; D'Avila, André

    2016-02-01

    Patients with congenitally corrected transposition frequently benefit from re-synchronisation therapy or ablation procedures. This is likely to require catheterisation of the coronary sinus. Its anatomy, however, is not always appreciated, despite being well-described. With this caveat in mind, we have evaluated its location and structure in hearts with congenitally corrected transposition in order to reinforce the guidance needed by the cardiac interventionist. We dissected and inspected the coronary sinus, the oblique vein of the left atrium, and the left-sided-circumflex venous channel in eight heart specimens with corrected transposition and eight controls, measuring the orifice and length of the sinus and the atrioventricular valves. In two-thirds of the malformed hearts, the sinus deviated from its anticipated course in the atrioventricular groove, ascending obliquely on the left atrial inferior wall to meet the left oblique vein. The maximal deviation coincided in all hearts with the point where the left oblique vein joined the left-sided-circumflex vein to form the coronary sinus. We describe a circumflex vein, rather than the great cardiac vein, as the latter venous channel is right-sided in the setting of corrected transposition. The length of the sinus correlated positively with the diameter of the tricuspid valve (p=0.02). Compared with controls, the left oblique vein in the malformed hearts joined the circumflex venous channel significantly closer to the mouth of the sinus. The unexpected course of the coronary sinus in corrected transposition and the naming of the cardiac veins have important implications for venous cannulation and interpretation of images.

  3. Adverse cardiac events in children with Williams syndrome undergoing cardiovascular surgery: An analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database.

    Science.gov (United States)

    Hornik, Christoph P; Collins, Ronnie Thomas; Jaquiss, Robert D B; Jacobs, Jeffrey P; Jacobs, Marshall L; Pasquali, Sara K; Wallace, Amelia S; Hill, Kevin D

    2015-06-01

    Patients with Williams syndrome (WS) undergoing cardiac surgery are at risk for major adverse cardiac events (MACE). Prevalence and risk factors for such events have not been well described. We sought to define frequency and risk of MACE in patients with WS using a multicenter clinical registry. We identified cardiac operations performed in patients with WS using the Society of Thoracic Surgeons Congenital Heart Surgery Database (2000-2012). Operations were divided into 4 groups: isolated supravalvular aortic stenosis, complex left ventricular outflow tract (LVOT), isolated right ventricular outflow tract (RVOT), and combined LVOT/RVOT procedures. The proportion of patients with MACE (in-hospital mortality, cardiac arrest, or postoperative mechanical circulatory support) was described and the association with preoperative factors was examined. Of 447 index operations (87 centers), median (interquartile range) age and weight at surgery were 2.4 years (0.6-7.4 years) and 10.6 kg (6.5-21.5 kg), respectively. Mortality occurred in 20 patients (5%). MACE occurred in 41 patients (9%), most commonly after combined LVOT/RVOT (18 out of 87; 21%) and complex LVOT (12 out of 131; 9%) procedures, but not after isolated RVOT procedures. Odds of MACE decreased with age (odds ratio [OR], 0.99; 95% confidence interval [CI], 0.98-0.99), weight (OR, 0.97; 95% CI, 0.93-0.99), but increased in the presence of any preoperative risk factor (OR, 2.08; 95% CI, 1.06-4.00), and in procedures involving coronary artery repair (OR, 5.37; 95% CI, 2.05-14.06). In this multicenter analysis, MACE occurred in 9% of patients with WS undergoing cardiac surgery. Demographic and operative characteristics were associated with risk. Further study is needed to elucidate mechanisms of MACE in this high-risk population. Copyright © 2015 The American Association for Thoracic Surgery. Published by Elsevier Inc. All rights reserved.

  4. 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.)

  5. Congenital extrahepatic portosystemic shunts

    International Nuclear Information System (INIS)

    Murray, Conor P.; Yoo, Shi-Joon; Babyn, Paul S.

    2003-01-01

    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.)

  6. Congenital Hydrocephalus.

    Science.gov (United States)

    Estey, Chelsie M

    2016-03-01

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

  7. AKAP13 Rho-GEF and PKD-binding domain deficient mice develop normally but have an abnormal response to β-adrenergic-induced cardiac hypertrophy.

    Directory of Open Access Journals (Sweden)

    Matthew J Spindler

    Full Text Available A-kinase anchoring proteins (AKAPs are scaffolding molecules that coordinate and integrate G-protein signaling events to regulate development, physiology, and disease. One family member, AKAP13, encodes for multiple protein isoforms that contain binding sites for protein kinase A (PKA and D (PKD and an active Rho-guanine nucleotide exchange factor (Rho-GEF domain. In mice, AKAP13 is required for development as null embryos die by embryonic day 10.5 with cardiovascular phenotypes. Additionally, the AKAP13 Rho-GEF and PKD-binding domains mediate cardiomyocyte hypertrophy in cell culture. However, the requirements for the Rho-GEF and PKD-binding domains during development and cardiac hypertrophy are unknown.To determine if these AKAP13 protein domains are required for development, we used gene-trap events to create mutant mice that lacked the Rho-GEF and/or the protein kinase D-binding domains. Surprisingly, heterozygous matings produced mutant mice at Mendelian ratios that had normal viability and fertility. The adult mutant mice also had normal cardiac structure and electrocardiograms. To determine the role of these domains during β-adrenergic-induced cardiac hypertrophy, we stressed the mice with isoproterenol. We found that heart size was increased similarly in mice lacking the Rho-GEF and PKD-binding domains and wild-type controls. However, the mutant hearts had abnormal cardiac contractility as measured by fractional shortening and ejection fraction.These results indicate that the Rho-GEF and PKD-binding domains of AKAP13 are not required for mouse development, normal cardiac architecture, or β-adrenergic-induced cardiac hypertrophic remodeling. However, these domains regulate aspects of β-adrenergic-induced cardiac hypertrophy.

  8. Abnormal interactions of calsequestrin with the ryanodine receptor calcium release channel complex linked to exercise-induced sudden cardiac death

    NARCIS (Netherlands)

    Terentyev, Dmitry; Nori, Alessandra; Santoro, Massimo; Viatchenko-Karpinski, Serge; Kubalova, Zuzana; Gyorke, Inna; Terentyeva, Radmila; Vedamoorthyrao, Srikanth; Blom, Nico A.; Valle, Giorgia; Napolitano, Carlo; Williams, Simon C.; Volpe, Pompeo; Priori, Silvia G.; Gyorke, Sandor

    2006-01-01

    Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a familial arrhythmogenic disorder associated with mutations in the cardiac ryanodine receptor (RyR2) and cardiac calsequestrin (CASQ2) genes. Previous in vitro studies suggested that RyR2 and CASQ2 interact as parts of a multimolecular

  9. Cerebral monitoring during neonatal surgery for non-cardiac congenital anomalies: a first step to improve outcome?

    NARCIS (Netherlands)

    Stolwijk, L.J.

    2017-01-01

    Monitoring the newborn brain during surgery Cerebral monitoring in newborns, who require surgery in the first month of life, is important to protect the brain. The newborn brain is vulnerable during neonatal surgery. Newborn babies with a congenital anomaly requiring surgery in the first month of

  10. Is aortopathy in bicuspid aortic valve disease a congenital defect or a result of abnormal hemodynamics? A critical reappraisal of a one-sided argument.

    Science.gov (United States)

    Girdauskas, Evaldas; Borger, Michael A; Secknus, Maria-Anna; Girdauskas, Gracijus; Kuntze, Thomas

    2011-06-01

    Although there is adequate evidence that bicuspid aortic valve (BAV) is an inheritable disorder, there is a great controversy regarding the pathogenesis of dilatation of the proximal aorta. The hemodynamic theory was the first explanation for BAV aortopathy. The genetic theory, however, has become increasingly popular over the last decade and can now be viewed as the clearly dominant one. The widespread belief that BAV disease is a congenital disorder of vascular connective tissue has led to more aggressive treatment recommendations of the proximal aorta in such patients, approaching aortic management recommendations for patients with Marfan syndrome. There is emerging evidence that the 'clinically normal' BAV is associated with abnormal flow patterns and asymmetrically increased wall stress in the proximal aorta. Recent in vitro and in vivo studies on BAV function provide a unique hemodynamic insight into the different phenotypes of BAV disease and asymmetry of corresponding aortopathy even in the presence of a 'clinically normal' BAV. On the other hand, there is a subgroup of young male patients with BAV and a root dilatation phenotype, who may present the predominantly genetic form of BAV disease. In the face of these important findings, we feel that a critical review of this clinical problem is timely and appropriate, as the prevailing BAV-aortopathy theory undoubtedly affects the surgical approach to this common clinical entity. Thorough analysis of the recent literature shows a growing amount of evidence supporting the hemodynamic theory of aortopathy in patients with BAV disease. Data from recent studies requires a reevaluation of our overwhelming support of the genetic theory, and obliges us to acknowledge that hemodynamics plays an important role in the development of this disease process. Given the marked heterogeneity of BAV disease, further studies are required in order to more precisely determine which theory is the 'correct' one for explaining the

  11. Echocardiographic Evaluation of Coronary Abnormalities and Cardiac Function in a Murine Model of Kawasaki Disease Using High-frequency Ultrasound

    Directory of Open Access Journals (Sweden)

    Xin-Xin Zhang

    2017-01-01

    Conclusions: Echocardiography could identify the consecutive changes of coronary artery in KD mice. Echocardiography is more convenient and direct in evaluating the coronary abnormalities in this animal model.

  12. 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.

  13. Genetic Syndromes Associated with Congenital Cardiac Defects and Ophthalmologic Changes - Systematization for Diagnosis in the Clinical Practice

    OpenAIRE

    Oliveira, Priscila H. A.; Souza, Beatriz S.; Pacheco, Eimi N.; Menegazzo, Michele S.; Corrêa, Ivan S.; Zen, Paulo R. G.; Rosa, Rafael F. M.; Cesa, Claudia C.; Pellanda, Lucia C.; Vilela, Manuel A. P.

    2018-01-01

    Abstract Background: Numerous genetic syndromes associated with heart disease and ocular manifestations have been described. However, a compilation and a summarization of these syndromes for better consultation and comparison have not been performed yet. Objective: The objective of this work is to systematize available evidence in the literature on different syndromes that may cause congenital heart diseases associated with ocular changes, focusing on the types of anatomical and functional ...

  14. Use of milrinone to treat cardiac dysfunction in infants with pulmonary hypertension secondary to congenital diaphragmatic hernia: a review of six patients.

    Science.gov (United States)

    Patel, Neil

    2012-01-01

    Pulmonary hypertension and secondary cardiac dysfunction are important contributors of morbidity and mortality in infants with congenital diaphragmatic hernia (CDH). Milrinone, a phosphodiesterase-3 inhibitor, may be useful in this setting for its combined actions as a pulmonary vasodilator and to improve systolic and diastolic function. This study aimed to assess the effects of milrinone on cardiac function and pulmonary artery pressure in infants with CDH. A retrospective review of echocardiograms performed on infants with CDH who received milrinone was performed. Tissue Doppler imaging velocities were used to assess systolic and diastolic function. Pulmonary artery pressure was assessed from the pattern and velocity of ductal shunting. Six infants with CDH and severe pulmonary hypertension were identified. Systolic and diastolic myocardial velocities were reduced in the right ventricle (RV) and interventricular septum (IVS) at baseline. In the 72 h after commencement of milrinone, there was a significant increase in early diastolic myocardial velocities in the RV, accompanied by increasing systolic velocities in the RV and IVS. Oxygenation index was significantly reduced, blood pressure unchanged, and ductal shunt velocity minimally altered over the same time period. Milrinone use was associated with an improvement in systolic and diastolic function in the RV, corresponding to an improvement in clinical status. Copyright © 2012 S. Karger AG, Basel.

  15. Incidence of milrinone blood levels outside the therapeutic range and their relevance in children after cardiac surgery for congenital heart disease.

    Science.gov (United States)

    Garcia Guerra, Gonzalo; Joffe, Ari R; Senthilselvan, Ambikaipakan; Kutsogiannis, Demetrios J; Parshuram, Christopher S

    2013-05-01

    To evaluate whether variability in milrinone blood levels (MBL) occurs during administration to critically ill children after surgical repair of congenital heart disease, and the clinical relevance of this variability. Prospective cohort study conducted in the pediatric intensive care unit of a tertiary care teaching and referral hospital. MBL were measured at three time periods after starting milrinone infusion (9-12, 18-24, 40-48 h) and at the end of the infusion. MBL were categorized as within (100-300 ng/ml) or outside the therapeutic range. Low cardiac output syndrome was defined by elevation of either lactate (>2 mmol/l) or arteriovenous oxygen difference (>30%). Five other clinical outcomes were evaluated. Regression analyses evaluated the relationships between MBL and outcomes. Sixty-three patients were included with a total of 220 MBL. Quantification of MBL was by high-performance liquid chromatography. Overall, 114 (52%) MBL were outside the therapeutic range: 78 (36%) subtherapeutic, and 36 (16%) supratherapeutic. Repeated-measures analysis found a significant association between supratherapeutic MBL and low cardiac output syndrome (p = 0.02), and supratherapeutic MBL were associated with arterial-central venous oxygen saturation difference >30% at time 3 (p = 0.007). In this cohort, nontherapeutic MBL were common. Further investigation of milrinone dosing recommendations may improve the postoperative outcomes of children.

  16. 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.)

  17. Next-generation sequencing of 100 candidate genes in young victims of suspected sudden cardiac death with structural abnormalities of the heart

    DEFF Research Database (Denmark)

    Hertz, C L; Christiansen, S L; Ferrero-Miliani, Laura

    2016-01-01

    with non-diagnostic structural abnormalities of the heart. METHODS AND RESULTS: We screened 72 suspected SCD cases (HaloPlex Target Enrichment System (Agilent) and NGS (Illumina MiSeq) for 100 genes previously associated with inherited cardiomyopathies and channelopathies. Fifty......-two cases had non-diagnostic structural cardiac abnormalities and 20 cases, diagnosed with a cardiomyopathy post-mortem (ARVC = 14, HCM = 6), served as comparators. Fifteen (29 %) of the deceased individuals with non-diagnostic findings had variants with likely functional effects based on conservation......, computational prediction, allele-frequency and supportive literature. The corresponding frequency in deceased individuals with cardiomyopathies was 35 % (p = 0.8). CONCLUSION: The broad genetic screening revealed variants with likely functional effects at similar high rates, i.e. in 29 and 35 % of the suspected...

  18. Congenital amusias.

    Science.gov (United States)

    Tillmann, B; Albouy, P; Caclin, A

    2015-01-01

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

  19. Multiple Vascular Accidents Including Rupture of a Sinus of Valsalva Aneurysm, a Minor Ischemic Stroke and Intracranial Arterial Anomaly in a Patient with Systemic Congenital Abnormalities: A Case Report

    Directory of Open Access Journals (Sweden)

    Masataka Nakajima

    2013-11-01

    Full Text Available A 39-year-old man with a history of rupture of a sinus of Valsalva aneurysm experienced an ischemic stroke. Although the patient presented left-sided hemiparesis for a week, no abnormal signals were indicated on diffusion-weighted imaging with repeated magnetic resonance scans. Carotid ultrasound and cerebral angiography were conducted, and they revealed hypoplasty of the left internal carotid artery with a low-lying carotid bifurcation at the level of the C6 vertebra. In addition, he was diagnosed with intellectual disabilities, evaluated by the Wechsler Adult Intelligence Scale-III, and congenital velopharyngeal insufficiency. We herein present the first report of a patient with cardio-cerebrovascular abnormalities, intellectual disabilities, and an otorhinolaryngological abnormality.

  20. Prophylactic levosimendan for the prevention of low cardiac output syndrome and mortality in paediatric patients undergoing surgery for congenital heart disease.

    Science.gov (United States)

    Hummel, Johanna; Rücker, Gerta; Stiller, Brigitte

    2017-08-02

    Low cardiac output syndrome remains a serious complication, and accounts for substantial morbidity and mortality in the postoperative course of paediatric patients undergoing surgery for congenital heart disease. Standard prophylactic and therapeutic strategies for low cardiac output syndrome are based mainly on catecholamines, which are effective drugs, but have considerable side effects. Levosimendan, a calcium sensitiser, enhances the myocardial function by generating more energy-efficient myocardial contractility than achieved via adrenergic stimulation with catecholamines. Thus potentially, levosimendan is a beneficial alternative to standard medication for the prevention of low cardiac output syndrome in paediatric patients after open heart surgery. To review the efficacy and safety of the postoperative prophylactic use of levosimendan for the prevention of low cardiac output syndrome and mortality in paediatric patients undergoing surgery for congenital heart disease. We identified trials via systematic searches of CENTRAL, MEDLINE, Embase, and Web of Science, as well as clinical trial registries, in June 2016. Reference lists from primary studies and review articles were checked for additional references. We only included randomised controlled trials (RCT) in our analysis that compared prophylactic levosimendan with standard medication or placebo, in infants and children up to 18 years of age, who were undergoing surgery for congenital heart disease. Two review authors independently extracted data and assessed risk of bias according to a pre-defined protocol. We obtained additional information from all but one of the study authors of the included studies. We used the five GRADE considerations (study limitations, consistency of effect, imprecision, indirectness, and publication bias) to assess the quality of evidence from the studies that contributed data to the meta-analyses for the prespecified outcomes. We created a 'Summary of findings' table to

  1. 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...

  2. Evaluation of athletes with complex congenital heart disease.

    Science.gov (United States)

    Bates, Benjamin A; Richards, Camille; Hall, Michael; Kerut, Edmund K; Campbell, William; McMullan, Michael R

    2017-06-01

    As a result of improvements in congenital heart surgery, there are more adults alive today with congenital heart disease (CHD) than children. Individuals with cardiac birth defects may be able to participate in physical activities but require proper cardiovascular evaluation. The American Heart Association and American College of Cardiology released guidelines in 2015 for athletes with cardiovascular abnormalities. The guidelines express that although restriction from competitive athletics may be indicated for some, the majority of individuals with CHD can and should engage in some form of physical activity. This case study demonstrates the importance of combining all aspects of history, physical examination, ECG, and imaging modalities to evaluate cardiac anatomy and function in young athletes with complex CHD. © 2017, Wiley Periodicals, Inc.

  3. Electron-beam CT diagnosis of congenital cardiovascular diverticula

    International Nuclear Information System (INIS)

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

    2008-01-01

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

  4. Three-dimensional-printed cardiac prototypes aid surgical decision-making and preoperative planning in selected cases of complex congenital heart diseases: Early experience and proof of concept in a resource-limited environment.

    Science.gov (United States)

    Kappanayil, Mahesh; Koneti, Nageshwara Rao; Kannan, Rajesh R; Kottayil, Brijesh P; Kumar, Krishna

    2017-01-01

    Three-dimensional. (3D) printing is an innovative manufacturing process that allows computer-assisted conversion of 3D imaging data into physical "printouts" Healthcare applications are currently in evolution. The objective of this study was to explore the feasibility and impact of using patient-specific 3D-printed cardiac prototypes derived from high-resolution medical imaging data (cardiac magnetic resonance imaging/computed tomography [MRI/CT]) on surgical decision-making and preoperative planning in selected cases of complex congenital heart diseases (CHDs). Five patients with complex CHD with previously unresolved management decisions were chosen. These included two patients with complex double-outlet right ventricle, two patients with criss-cross atrioventricular connections, and one patient with congenitally corrected transposition of great arteries with pulmonary atresia. Cardiac MRI was done for all patients, cardiac CT for one; specific surgical challenges were identified. Volumetric data were used to generate patient-specific 3D models. All cases were reviewed along with their 3D models, and the impact on surgical decision-making and preoperative planning was assessed. Accurate life-sized 3D cardiac prototypes were successfully created for all patients. The models enabled radically improved 3D understanding of anatomy, identification of specific technical challenges, and precise surgical planning. Augmentation of existing clinical and imaging data by 3D prototypes allowed successful execution of complex surgeries for all five patients, in accordance with the preoperative planning. 3D-printed cardiac prototypes can radically assist decision-making, planning, and safe execution of complex congenital heart surgery by improving understanding of 3D anatomy and allowing anticipation of technical challenges.

  5. Type I Diabetic Akita Mouse Model is Characterized by Abnormal Cardiac Deformation During Early Stages of Diabetic Cardiomyopathy with Speckle-Tracking Based Strain Imaging.

    Science.gov (United States)

    Zhou, Yingchao; Xiao, Hong; Wu, Jianfei; Zha, Lingfeng; Zhou, Mengchen; Li, Qianqian; Wang, Mengru; Shi, Shumei; Li, Yanze; Lyu, Liangkun; Wang, Qing; Tu, Xin; Lu, Qiulun

    2018-01-01

    Diabetes mellitus (DM) has been demonstrated to have a strong association with heart failure. Conventional echocardiographic analysis cannot sensitively monitor cardiac dysfunction in type I diabetic Akita hearts, but the phenotype of heart failure is observed in molecular levels during the early stages. Male Akita (Ins2WT/C96Y) mice were monitored with echocardiographic imaging at various ages, and then with conventional echocardiographic analysis and speckle-tracking based strain analyses. With speckle-tracking based strain analyses, diabetic Akita mice showed changes in average global radial strain at the age of 12 weeks, as well as decreased longitudinal strain. These changes occurred in the early stage and remained throughout the progression of diabetic cardiomyopathy in Akita mice. Speckle-tracking showed that the detailed and precise changes of cardiac deformation in the progression of diabetic cardiomyopathy in the genetic type I diabetic Akita mice were uncoupled. We monitored early-stage changes in the heart of diabetic Akita mice. We utilize this technique to elucidate the underlying mechanism for heart failure in Akita genetic type I diabetic mice. It will further advance the assessment of cardiac abnormalities, as well as the discovery of new drug treatments using Akita genetic type I diabetic mice. © 2018 The Author(s). Published by S. Karger AG, Basel.

  6. Magnetic resonance imaging of congenital heart disease

    International Nuclear Information System (INIS)

    Fletcher, B.D.; Jacobstein, M.D.

    1988-01-01

    Focusing primarily on MR imaging of the heart, this book covers other diagnostic imaging modalities as well. The authors review new technologies and diagnostic procedures pertinent to congenital heat disease and present each congenital heat abnormality as a separate entity

  7. Congenital and childhood atrioventricular blocks: pathophysiology and contemporary management.

    Science.gov (United States)

    Baruteau, Alban-Elouen; Pass, Robert H; Thambo, Jean-Benoit; Behaghel, Albin; Le Pennec, Solène; Perdreau, Elodie; Combes, Nicolas; Liberman, Leonardo; McLeod, Christopher J

    2016-09-01

    Atrioventricular block is classified as congenital if diagnosed in utero, at birth, or within the first month of life. The pathophysiological process is believed to be due to immune-mediated injury of the conduction system, which occurs as a result of transplacental passage of maternal anti-SSA/Ro-SSB/La antibodies. Childhood atrioventricular block is therefore diagnosed between the first month and the 18th year of life. Genetic variants in multiple genes have been described to date in the pathogenesis of inherited progressive cardiac conduction disorders. Indications and techniques of cardiac pacing have also evolved to allow safe permanent cardiac pacing in almost all patients, including those with structural heart abnormalities. Early diagnosis and appropriate management are critical in many cases in order to prevent sudden death, and this review critically assesses our current understanding of the pathogenetic mechanisms, clinical course, and optimal management of congenital and childhood AV block. • Prevalence of congenital heart block of 1 per 15,000 to 20,000 live births. AV block is defined as congenital if diagnosed in utero, at birth, or within the first month of life, whereas childhood AV block is diagnosed between the first month and the 18th year of life. As a result of several different etiologies, congenital and childhood atrioventricular block may occur in an entirely structurally normal heart or in association with concomitant congenital heart disease. Cardiac pacing is indicated in symptomatic patients and has several prophylactic indications in asymptomatic patients to prevent sudden death. • Autoimmune, congenital AV block is associated with a high neonatal mortality rate and development of dilated cardiomyopathy in 5 to 30 % cases. What is New: • Several genes including SCN5A have been implicated in autosomal dominant forms of familial progressive cardiac conduction disorders. • Leadless pacemaker technology and gene therapy for

  8. Congenital heart defects in Williams syndrome.

    Science.gov (United States)

    Yuan, Shi-Min

    2017-01-01

    Yuan SM. Congenital heart defects in Williams syndrome. Turk J Pediatr 2017; 59: 225-232. Williams syndrome (WS), also known as Williams-Beuren syndrome, is a rare genetic disorder involving multiple systems including the circulatory system. However, the etiologies of the associated congenital heart defects in WS patients have not been sufficiently elucidated and represent therapeutic challenges. The typical congenital heart defects in WS were supravalvar aortic stenosis, pulmonary stenosis (both valvular and peripheral), aortic coarctation and mitral valvar prolapse. The atypical cardiovascular anomalies include tetralogy of Fallot, atrial septal defects, aortic and mitral valvular insufficiencies, bicuspid aortic valves, ventricular septal defects, total anomalous pulmonary venous return, double chambered right ventricle, Ebstein anomaly and arterial anomalies. Deletion of the elastin gene on chromosome 7q11.23 leads to deficiency or abnormal deposition of elastin during cardiovascular development, thereby leading to widespread cardiovascular abnormalities in WS. In this article, the distribution, treatment and surgical outcomes of typical and atypical cardiac defects in WS are discussed.

  9. Hibiscus sabdariffa (Roselle) Polyphenol-rich Extract Averts Cardiac Functional and Structural Abnormalities in Type 1 Diabetic Rats.

    Science.gov (United States)

    Mohammed Yusof, Nur Liyana; Zainalabidin, Satirah; Mohd Fauzi, Norsyahida; Budin, Siti Balkis

    2018-05-04

    Diabetes mellitus is often associated with cardiac functional and structural alteration, an initial event leading to cardiovascular complications. Hibiscus sabdariffa or roselle has been widely proven as an antioxidant and recently has incited research interest for its potential in treating cardiovascular disease. Therefore, this study aimed to determine the cardioprotective effects of H. sabdariffa (roselle) polyphenol-rich extract (HPE) in type-1 induced diabetic rats. Twenty-four male Sprague-Dawley rats were randomized into four groups (n=6/group): non-diabetic (NDM), diabetic alone (DM), diabetic supplemented with HPE (DM+HPE) and metformin (DM+MET). Type-1 diabetes was induced with streptozotocin (55 mg/kg/i.p). Rats were forced-fed HPE (100 mg/kg) and metformin (150 mg/kg) daily for eight weeks. Results showed that HPE supplementation improved hyperglycemia and dyslipidemia significantly (p<0.05) in DM+HPE compared to DM group. HPE supplementation attenuated cardiac oxidative damage in DM group, indicated by low malondialdehyde and advanced oxidation protein product. As for the antioxidant status, HPE significantly (p<0.05) increased glutathione level, as well as catalase and superoxide dismutase 1 and 2 activities. These findings correlate with cardiac function, whereby HPE supplementation improved left ventricle developed pressure, coronary flow, cardiac contractility and relaxation rate significantly (p<0.05). Histological analysis showed a marked decrease in cardiomyocyte hypertrophy and fibrosis in DM+HPE compared to DM group. Ultrastructural changes and impairment of mitochondria induced by diabetes were minimized by HPE supplementation. Collectively, these findings suggest that HPE is a potential cardioprotective agent in a diabetic setting through its hypoglycemic, anti-hyperlipidemia and antioxidant properties.

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

    Science.gov (United States)

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

    2016-06-01

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

  11. 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.)

  12. 18F-FDG-PET/CT angiography in the diagnosis of infective endocarditis and cardiac device infection in adult patients with congenital heart disease and prosthetic material.

    Science.gov (United States)

    Pizzi, María N; Dos-Subirà, L; Roque, Albert; Fernández-Hidalgo, Nuria; Cuéllar-Calabria, Hug; Pijuan Domènech, Antonia; Gonzàlez-Alujas, María T; Subirana-Domènech, M T; Miranda-Barrio, B; Ferreira-González, Ignacio; González-López, Juan J; Igual, Albert; Maisterra-Santos, Olga; García-Dorado, David; Castell-Conesa, Joan; Almirante, Benito; Escobar Amores, Manuel; Tornos, Pilar; Aguadé-Bruix, Santiago

    2017-12-01

    Infective endocarditis (IE) and cardiac device infection (CDI) are a major complication in the growing number of patients with congenital heart disease (CHD) reaching adulthood. We aimed to evaluate the added value of 18 F-FDG-PET/CT angiography (PET/CTA) in the diagnosis of IE-CDI in adults with CHD and intravascular or intracardiac prosthetic material, in whom echocardiography (ECHO) and modified Duke Criteria (DC) have limitations because of the patients' complex anatomy. A prospective study was conducted in a referral center with multidisciplinary IE and CHD Units. PET/CTA and ECHO findings were compared in consecutive adult (≥18years) patients with CHD who have prosthetic material and suspected IE-CDI. The initial diagnosis using the DC and the diagnosis with the additional PET/CTA data (DC+PET/CTA) were compared with the final diagnostic consensus established by an expert team at three months. Between November-2012 and April-2017, 25 patients (15 men; median age 40years) were included. Cases were initially classified as definite in 8 (32%), possible in 14 (56%) and rejected in 3 (12%). DC+PET/CTA allowed reclassification of 12/14 (86%) cases initially identified as possible IE. The sensitivity, specificity, PPV, NPV, and accuracy of DC at IE suspicion were 39.1%/83.3%/90.4%/25.5%/61.2%, respectively. The diagnostic performance increased significantly with addition of PET/CTA data: 87%/83.3%/95.4%/61.5%/85.1%, respectively. PET/CTA also provided an alternative diagnosis in 3 patients with rejected IE, and detected pulmonary embolisms in 3 patients. PET/CTA was a useful diagnostic tool in the complex group of adult patients with CHD who have cardiac or intravascular prosthetic material and suspected IE or CDI, providing added diagnostic value to the modified DC (increased sensitivity) and improving case classification. Copyright © 2017 Elsevier Ireland Ltd. All rights reserved.

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

    International Nuclear Information System (INIS)

    Yakoumakis, E; Kostopoulou, H.; Dimitriadis, T.; Georgiou, E.; Makri, T.; Tsalafoutas, I.

    2012-01-01

    Background and objective: 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. Our objective was to calculate the effective (E) and equivalent organ doses (HT) in those children and estimate the risk of radiation induced cancer (REID). Materials and methods: Fifty three children were divided into three groups, atrial septal defect (ASD), ventricular septal defect (VSD), and patent ductus arteriosus (PDA), depending on their heart condition. In all procedures, the exposure conditions and the Dose-Area Product (DAP) meters readings were recorded for each individual acquisition. Monte Carlo simulations were run using the PCXMC 2.0 code and mathematical phantoms simulating children anatomy. The HT values to all irradiated organs and the resulting E and REID values were calculated. Results: The average DAP values were respectively 40±12 Gy·cm 2 for the ASD, 17.5±0.7 Gy·cm 2 for the VSD and 9.5±1 Gy·cm 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 REID values per procedure were 0.109, 0.106 and 0.067 %. For all groups the most heavily irradiated organs were the thymus, heart, breast, lung and stomach. (authors)

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

    International Nuclear Information System (INIS)

    Yakoumakis, E N; Gialousis, G I; Papadopoulou, Despina; Makri, Triantafillia; Pappouli, Zografia; Yakoumakis, Nikolaos; Papagiannis, Panayotis; Georgiou, Evangelos

    2009-01-01

    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.

  15. 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)

    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.

  16. What Are Congenital Heart Defects?

    Science.gov (United States)

    ... a baby with a congenital heart defect. Family history and genetics Congenital heart disease is not usually passed along ... you or your child to a specialist in genetic testing. Cardiac MRI to diagnose a ... Factors to review family history, smoking, and medicines that increase your risk of ...

  17. Health in adults with congenital heart disease

    NARCIS (Netherlands)

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

    2016-01-01

    Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many

  18. Cardiac arrest

    Science.gov (United States)

    ... magnesium. These minerals help your heart's electrical system work. Abnormally high or low levels can cause cardiac arrest. Severe physical stress. Anything that causes a severe stress on your ...

  19. A New PAX8 Mutation Causing Congenital Hypothyroidism in Three Generations of a Family Is Associated with Abnormalities in the Urogenital Tract

    NARCIS (Netherlands)

    Carvalho, Ana; Hermanns, Pia; Rodrigues, Ana-Luísa; Sousa, Isabel; Anselmo, João; Bikker, Hennie; Cabral, Rita; Pereira-Duarte, Carlos; Mota-Vieira, Luísa; Pohlenz, Joachim

    2013-01-01

    Background: Although thyroid dysgenesis is the most common cause of congenital hypothyroidism (CH), its molecular basis remains largely elusive. Indeed, in only a minority of cases with thyroid dysgenesis (2%-3%) was it possible to identify an underlying genetic defect. The objective of this study

  20. A High Fat Diet During Pregnancy and Lactation Induces Cardiac and Renal Abnormalities in GLUT4 +/- Male Mice

    Directory of Open Access Journals (Sweden)

    Michael Kruse

    2017-07-01

    Full Text Available Background/Aims: Altered nutrients during the in utero (IU and/or lactation (L period predispose offspring to cardio-renal diseases in adulthood. This study investigates the effect of a high fat diet (HFD fed to female mice during IU/L on gene expression patterns associated with heart and kidney failure and hypertension in male offspring. Methods: Female wild type (WT mice were fed either a HFD or control chow (C prior to mating with males with a genetic heterozygous deletion of GLUT4 (G4+/-, a model of peripheral insulin resistance and hypertension and throughout IU/L. After weaning male offspring were placed on a standard rodent chow until 24 weeks of age. Results: All offspring exposed to a maternal HFD showed increased heart and kidney weight and reduced cardiac insulin responsiveness. G4+/- offspring on a HFD displayed early hypertension associated with increased renal gene expression of renin and the AT1- receptors compared to G4+/- on a C diet. This group showed decreased cardiac expression of key genes involved in fatty acid oxidation compared to WT on a C diet. Conclusions: These results indicate an interaction between a HFD diet and genotype during early life development that can enhance susceptibility to cardio-renal diseases later in life.

  1. [Neonatal tumours and congenital malformations].

    Science.gov (United States)

    Berbel Tornero, O; Ortega García, J A; Ferrís i Tortajada, J; García Castell, J; Donat i Colomer, J; Soldin, O P; Fuster Soler, J L

    2008-06-01

    The association between pediatric cancer and congenital abnormalities is well known but, there is no exclusive data on the neonatal period and the underlying etiopathogenic mechanisms are unknown. First, to analyze the frequency of neonatal tumours associated with congenital abnormalities; and second, to comment on the likely etiopathogenic hypotheses of a relationship between neonatal tumours and congenital abnormalities. Historical series of neonatal tumours from La Fe University Children's Hospital in Valencia (Spain), from January 1990 to December 1999. Histological varieties of neonatal tumours and associated congenital abnormalities were described. A systematic review of the last 25 years was carried out using Medline, Cancerlit, Index Citation Science and Embase. The search profile used was the combination of "neonatal/congenital-tumors/cancer/neoplasms" and "congenital malformations/birth defects". 72 neonatal tumours were identified (2.8% of all pediatric cancers diagnosed in our hospital) and in 15 cases (20.8%) there was some associated malformation, disease or syndrome. The association between congenital abnormalities and neonatal tumours were: a) angiomas in three patients: two patients with congenital heart disease with a choanal stenosis, laryngomalacia; b) neuroblastomas in two patients: horseshoe kidney with vertebral anomalies and other with congenital heart disease; c) teratomas in two patients: one with cleft palate with vertebral anomalies and other with metatarsal varus; d) one tumour of the central nervous system with Bochdaleck hernia; e) heart tumours in four patients with tuberous sclerosis; f) acute leukaemia in one patient with Down syndrome and congenital heart disease; g) kidney tumour in one case with triventricular hydrocephaly, and h) adrenocortical tumour: hemihypertrophy. The publications included the tumours diagnosed in different pediatric periods and without unified criteria to classify the congenital abnormalities. Little data

  2. Inactivation of Bmp4 from the Tbx1 Expression Domain Causes Abnormal Pharyngeal Arch Artery and Cardiac Outflow Tract Remodeling

    Science.gov (United States)

    Nie, Xuguang; Brown, Christopher B.; Wang, Qin; Jiao, Kai

    2011-01-01

    Maldevelopment of outflow tract and aortic arch arteries is among the most common forms of human congenital heart diseases. Both Bmp4 and Tbx1 are known to play critical roles during cardiovascular development. Expression of these two genes partially overlaps in pharyngeal arch areas in mouse embryos. In this study, we applied a conditional gene inactivation approach to test the hypothesis that Bmp4 expressed from the Tbx1 expression domain plays a critical role for normal development of outflow tract and pharyngeal arch arteries. We showed that inactivation of Bmp4 from Tbx1-expressing cells leads to the spectrum of deformities resembling the cardiovascular defects observed in human DiGeorge syndrome patients. Inactivation of Bmp4 from the Tbx1 expression domain did not cause patterning defects, but affected remodeling of outflow tract and pharyngeal arch arteries. Our further examination revealed that Bmp4 is required for normal recruitment/differentiation of smooth muscle cells surrounding the PAA4 and survival of outflow tract cushion mesenchymal cells. PMID:21123999

  3. Trends in pediatric echocardiography and the yield for congenital heart disease in a major cardiac referral hospital in Cameroon.

    Science.gov (United States)

    Nkoke, Clovis; Balti, Eric; Menanga, Alain; Dzudie, Anastase; Lekoubou, Alain; Kingue, Samuel; Kengne, Andre Pascal

    2017-01-01

    Congenital heart disease (CHD) is a common condition in children in Sub-Saharan Africa (SSA), where it is associated with poor outcomes. Diagnosis of CHD in SSA depends essentially on echocardiography, which is available only in few urban referral centers. Our aim was to assess time changes in the pattern of referral for pediatric echocardiography and the subsequent diagnosis of structural CHD in a major SSA city. All pediatric echocardiography performed between 2004 and 2013 at the echocardiography laboratory of the Yaounde General Hospital were reviewed. The primary indication of the study and the presence of structural CHD were recorded. Between 2004 and 2013, 9,390 echocardiograms were performed and 834 (8.9%) children aged 1 day to 15 years underwent echocardiography at the center, and 227 (27.2%) cases of definite structural CHD were diagnosed, with 123 (54.2%) in boys. The most frequent indications for echocardiography were heart murmurs (40%) and the suspicion of CHD (37.4%). The commonest CHD was ventricular septal defect (VSD) (30%) with tetralogy of Fallot being the most frequent cyanotic heart lesion (5.3%). The proportion of pediatric echocardiography decreased from 13.3% in 2004-2005 to 6.1% in 2012-2013 (P=0.001) but not in a linear fashion (P=0.072 for linear trend).The diagnosis of structural CHD increased from 25.1% in 2004-2005 to 27.1% in 2012-2013. This increase however was non-significant (P=0.523) and did not follow a linear trend (P=0.230). The pattern of referral for pediatric echocardiography at this center has changed over time, but diagnosis of structural CHD has remained the same. Improving access to this diagnostic procedure and subsequent treatment of diagnosed CHD will help improving the outcome of the disease in this setting.

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

    Science.gov (United States)

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

    2017-12-01

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

  5. Radionuclide angiocardiography in the diagnosis of congenital heart disorders

    International Nuclear Information System (INIS)

    Jones, R.H.; Austin, E.H.; Peter, C.A.; Sabiston, D.C. Jr.

    1981-01-01

    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

  6. Angiocardiography in congenital heart malformations

    International Nuclear Information System (INIS)

    Soto, B.; Pacifico, A.D.

    1990-01-01

    The contents of this book are well organized, it deals with the technique of angiocardiography, and describes the angiocardiographic anatomy of the normal heart and offers an excellent sequential analysis of cardiac morphology. The rest of the book describes the angiocardiographic findings observed in individual congenital cardiac disorders

  7. Fatal cardiac arrhythmia and long-QT syndrome in a new form of congenital generalized lipodystrophy with muscle rippling (CGL4 due to PTRF-CAVIN mutations.

    Directory of Open Access Journals (Sweden)

    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.

  8. Low-set ears and pinna abnormalities

    Science.gov (United States)

    Low-set ears; Microtia; "Lop" ear; Pinna abnormalities; Genetic defect - pinna; Congenital defect - pinna ... conditions: Abnormal folds or location of the pinna Low-set ears No opening to the ear canal ...

  9. Abnormal sympathetic nerve activity in women exposed to cigarette smoke: a potential mechanism to explain increased cardiac risk.

    Science.gov (United States)

    Middlekauff, Holly R; Park, Jeanie; Agrawal, Harsh; Gornbein, Jeffrey A

    2013-11-15

    In women, cardiac deaths attributable to tobacco exposure have reached the same high levels as men. Normally, sympathetic nerve activity (SNA) fluctuates according to the menstrual phase, but in habitual smokers, SNA levels remain constant. Our purpose is to extend these observations to other groups of women exposed to tobacco smoke and to explore potential mechanisms. We hypothesize that women exposed to secondhand smoke, but not former smokers, have nonfluctuating SNA compared with never smokers, and that impaired baroreflex suppression of SNA, and/or heightened central SNA responses, underlie this nonfluctuating SNA. We also hypothesize that female smokers have impaired nocturnal blood pressure dipping, normally mediated by modulation of SNA. In 49 females (19 never, 12 current, 9 former, 9 passive smokers), SNA was recorded (microneurography) during high- and low-hormone ovarian phases at rest, during pharmacological baroreflex testing, and during the cold pressor test (CPT). Twenty-four hour blood pressure (BP) monitoring was performed. Current and passive smokers, but not former smokers, had a nonfluctuating pattern of SNA, unlike never smokers in whom SNA varied with the menstrual phase. Baroreflex control of SNA was significantly blunted in current smokers, independent of menstrual phase. In passive smokers, SNA response to CPT was markedly increased. Nondipping was unexpectedly high in all groups. SNA does not vary during the menstrual cycle in active and passive smokers, unlike never and former smokers. Baroreflex control of SNA is blunted in current smokers, whereas SNA response to CPT is heightened in passive smokers. Smoking cessation is associated with return of the altered SNA pattern to normal.

  10. Polyamines mediate abnormal Ca2+ transport and Ca2+-induced cardiac cell injury in the calcium paradox

    International Nuclear Information System (INIS)

    Trout, J.J.; Koenig, H.; Goldstone, A.D.; Lu, C.Y.; Fan, C.C.

    1986-01-01

    Ca 2+ -free perfusion renders heart cells Ca 2+ -sensitive so that readmission of Ca 2+ causes a sudden massive cellular injury attributed to abnormal entry of Ca 2+ into cells (Ca paradox). Hormonal stimulation of Ca 2+ fluxes was earlier shown to be mediated by polyamines (PA). 5 min perfusion of rat heart with Ca 2+ -free medium induce a prompt 40-50% decline in levels of the PA putrescine (PUT), spermidine and spermine and their rate-regulatory synthetic enzyme ornithine decarboxylase (ODC), and readmission of Ca 2+ -containing medium abruptly ( 2+ reperfusion-induced increases in ODC and PA and also prevented increased 45 Ca 2+ uptake and heart injury, manifested by loss of contractility, release of enzymes (CPK, LDH), myoglobin and protein, and E.M. lesions (contracture bands, mitochondrial changes). 1 mM PUT negated DFMO inhibition, repleted heart PA and restored Ca 2+ reperfusion-induced 45 Ca 2+ influx and cell injury. These data indicate that the Ca 2+ -directed depletion-repletion cycle of ODC and PA triggers excessive transsarcolemmal Ca 2+ transport leading to the calcium paradox

  11. Cardiac Diastolic Evaluation in Pregnant Women with Abnormal Glucose Tolerance: An Opportunity to Detect the Early and Subclinical Alterations and Prevent Cardiovascular Diseases

    Directory of Open Access Journals (Sweden)

    B. Pintaudi

    2013-01-01

    Full Text Available Objectives of this study were to assess diastolic function in pregnant women with abnormal glucose tolerance (AGT, compared with normal glucose tolerance (NGT women, and to evaluate the insulin resistance status and its association with Doppler-echocardiographic indexes. Echocardiograms of 108 consecutive Caucasian women with singleton pregnancies were performed. Insulin resistance status was estimated by the homeostasis model assessment of insulin resistance (HOMA-IR and the quantitative insulin sensitivity check index (QUICKI. All the studied women showed normal diastolic patterns. Patients with AGT (50.9%, as compared with NGT women, had higher HOMA-IR (1.70±1.30 versus 1.01±0.81, P=0.003, lower QUICKI (0.36±0.005 versus 0.40±0.06, P=0.004, higher lateral mitral annulus late diastolic velocity (13.6±4.9 versus 11.9±4.9, P=0.03, and higher A-wave velocity, the wave responsible for the active atrial contraction component (75.2±14.2 versus 67.7±16.2, P=0.01. At multivariate regression analysis HOMA-IR was the only parameter associated with A-wave velocity. In conclusion, women with AGT had an increased subclinical diastolic active participation, which is associated with higher levels of insulin resistance. For the increased risk of deterioration of cardiac diastolic function, earlier and more seriously than normal pregnancy, AGT women may have a careful followup to detect the early signs of cardiac alteration and to prevent cardiovascular diseases.

  12. CONGENITAL MYOTONIC DYSTROPHY – CASE REPORT

    Directory of Open Access Journals (Sweden)

    David Neubauer

    2001-07-01

    Full Text Available Background. Myotonic dystrophy is inherited as an autosomal dominant trait. It is characterized by myotonia, myopathy of voluntary and involuntary muscles, frontal baldness in men, cardiac conduction abnormalities, catharacts, intellectual deterioration and endocrinopathy. Men with this disorder have often gonadal atrophy and infertility. On the other hand women are generally fertile. During pregnancy their myopathy worsens, often causing severe obstetrical complications. Their children may develop congenital form of the disease with signs of myopathy in utero and have great difficulties in maintaining life functions after birth, together with other characteristical signs of this form: bilateral facial weakness, severe hypotonia, feeding difficulties, talipes equinovarus and mental retardation. The authors present a female newborn with such congenital form of myotonic dystrophy.Conclusions. The authors have emphasized the importance of medical history, regular updating of all the cases of neuromuscular diseases in the region and clinical characteristics for the recognition of congenital form of myotonic dystrophy because of possible prenatal diagnostics and better antenatal and postantal care.

  13. 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.

    Directory of Open Access Journals (Sweden)

    Céline Augière

    Full Text Available 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.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.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.

  14. Congenital Complete Absence of Pericardium Masquerading as Pulmonary Embolism

    Science.gov (United States)

    Tariq, Saad; Mahmood, Sultan; Madeira, Samuel; Tarasov, Ethan

    2013-01-01

    Congenital absence of the pericardium is a rare cardiac condition, which can be either isolated or associated with other cardiac and extracardiac anomalies. There are six different types, depending on the severity of the involvement. Most of the patients with this defect are asymptomatic, especially the ones with complete absence of the pericardium. However, some patients are symptomatic, reporting symptoms that include chest pain, palpitations, dyspnea, and syncope. Diagnosis is established by the characteristic features on chest X-ray, echocardiogram, chest computed tomography (CT), and/or cardiac magnetic resonance imging (MRI). We present here a case of a 23 year-old-male, who presented to our hospital with complaints of pleuritic chest pain and exertional dyspnea, of a two-week duration. He was physically active and his past history was otherwise insignificant. His chest CT with contrast was interpreted as showing evidence of multiple emboli, predominantly in the left lung, and he was started on a heparin and warfarin therapy. A repeat chest CT with contrast three weeks later showed no significant change from the previous CT scan. Both scans showed that the heart was abnormally rotated to the left side of the chest. An echocardiogram raised the suspicion of congenital absence of the pericardium, with a posteriorly displaced heart. In retrospect, motion artifact on the left lung, attributed to cardiac pulsations and the lack of pericardium, resulted in a CT chest appearance, mimicking findings of pulmonary embolism. The misdiagnosis of pulmonary embolism was attributed to the artifact caused by excessive cardiac motion artifact on the chest CT scan. In non-gated CT angiograms, excessive motion causes an artifact that blurs the pulmonary vessels, reminiscent of a ′seagull′ or a ′boomerang′. Physicians need to be aware of this phenomenon, as well as the characteristic radiological features of this congenital anomaly, to enable them to make a correct

  15. Disruption of the podosome adaptor protein TKS4 (SH3PXD2B) causes the skeletal dysplasia, eye, and cardiac abnormalities of Frank-Ter Haar Syndrome.

    Science.gov (United States)

    Iqbal, Zafar; Cejudo-Martin, Pilar; de Brouwer, Arjan; van der Zwaag, Bert; Ruiz-Lozano, Pilar; Scimia, M Cecilia; Lindsey, James D; Weinreb, Robert; Albrecht, Beate; Megarbane, Andre; Alanay, Yasemin; Ben-Neriah, Ziva; Amenduni, Mariangela; Artuso, Rosangela; Veltman, Joris A; van Beusekom, Ellen; Oudakker, Astrid; Millán, José Luis; Hennekam, Raoul; Hamel, Ben; Courtneidge, Sara A; van Bokhoven, Hans

    2010-02-12

    Frank-Ter Haar syndrome (FTHS), also known as Ter Haar syndrome, is an autosomal-recessive disorder characterized by skeletal, cardiovascular, and eye abnormalities, such as increased intraocular pressure, prominent eyes, and hypertelorism. We have conducted homozygosity mapping on patients representing 12 FTHS families. A locus on chromosome 5q35.1 was identified for which patients from nine families shared homozygosity. For one family, a homozygous deletion mapped exactly to the smallest region of overlapping homozygosity, which contains a single gene, SH3PXD2B. This gene encodes the TKS4 protein, a phox homology (PX) and Src homology 3 (SH3) domain-containing adaptor protein and Src substrate. This protein was recently shown to be involved in the formation of actin-rich membrane protrusions called podosomes or invadopodia, which coordinate pericellular proteolysis with cell migration. Mice lacking Tks4 also showed pronounced skeletal, eye, and cardiac abnormalities and phenocopied the majority of the defects associated with FTHS. These findings establish a role for TKS4 in FTHS and embryonic development. Mutation analysis revealed five different homozygous mutations in SH3PXD2B in seven FTHS families. No SH3PXD2B mutations were detected in six other FTHS families, demonstrating the genetic heterogeneity of this condition. Interestingly however, dermal fibroblasts from one of the individuals without an SH3PXD2B mutation nevertheless expressed lower levels of the TKS4 protein, suggesting a common mechanism underlying disease causation. Copyright (c) 2010 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  16. Health in adults with congenital heart disease.

    Science.gov (United States)

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

    2016-09-01

    Since the introduction of cardiac surgery, the prospects for children born with a cardiac defect have improved spectacularly. Many reach adulthood and the population of adults with congenital heart disease is increasing and ageing. However, repair of congenital heart disease does not mean cure. Many adults with congenital heart disease encounter late complications. Late morbidity can be related to the congenital heart defect itself, but may also be the consequence of the surgical or medical treatment or longstanding alterations in hemodynamics, neurodevelopment and psychosocial development. This narrative review describes the cardiac and non-cardiac long-term morbidity in the adult population with congenital heart disease. Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

  17. Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

    OpenAIRE

    Skauli, Nadia; Wallace, Sean; Chiang, Samuel C. C.; Bar?y, Tuva; Holmgren, Asbj?rn; Stray-Pedersen, Asbj?rg; Bryceson, Yenan T.; Str?mme, Petter; Frengen, Eirik; Misceo, Doriana

    2016-01-01

    Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3), characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val) in two brothers w...

  18. Applications of cardiac MRI in pediatric heart diseases

    International Nuclear Information System (INIS)

    Tao Xiaojuan; Zeng Jinjin; Sun Jihang; Cheng Hua; Yin Guangheng

    2009-01-01

    Objective: To evaluate the value of magnetic resonance imaging in pediatric heart diseases. Methods: Ninety-seven cases received cardiac MR scanning in this present study. The age range was 2 day to 13 years including 62 boys and 35 girls, the median age was 6 years. They were performed on h 5 T scanner with cardiac phased-array coil and VCG. Results: Eighty-five of the 97 cases were positive. Those positive findings included cardiomyopathy in 41 cases, congenital heart disease in 20 cases, constrictive pericarditis in 4 cases, pericardiac effusions with or without other cardiovascular diseases in 17 cases, cardiac tumor in 2 cases,thrombus in 3 cases and in 5 other cases. Conclusion: Cardiac MRI is an excellent imaging modality for the anatomical and functional abnormalities of pediatric heart diseases. (authors)

  19. Congenital neck masses.

    Science.gov (United States)

    Rosa, Peter A; Hirsch, David L; Dierks, Eric J

    2008-08-01

    Congenital neck lesions reflect abnormal embryogenesis in head and neck development. A thorough knowledge of embryology and anatomy is critical in the diagnosis and treatment of these lesions. The appropriate diagnosis of these lesions is necessary to provide appropriate treatment and long-term follow up, because some of these lesions may undergo malignant transformation or be harbingers of malignant disease.

  20. Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

    Directory of Open Access Journals (Sweden)

    Kristen N Stevens

    Full Text Available Congenital heart disease (CHD is the most common birth abnormality and the etiology is unknown in the overwhelming majority of cases. ISLET1 (ISL1 is a transcription factor that marks cardiac progenitor cells and generates diverse multipotent cardiovascular cell lineages. The fundamental role of ISL1 in cardiac morphogenesis makes this an exceptional candidate gene to consider as a cause of complex congenital heart disease. We evaluated whether genetic variation in ISL1 fits the common variant-common disease hypothesis. A 2-stage case-control study examined 27 polymorphisms mapping to the ISL1 locus in 300 patients with complex congenital heart disease and 2,201 healthy pediatric controls. Eight genic and flanking ISL1 SNPs were significantly associated with complex congenital heart disease. A replication study analyzed these candidate SNPs in 1,044 new cases and 3,934 independent controls and confirmed that genetic variation in ISL1 is associated with risk of non-syndromic congenital heart disease. Our results demonstrate that two different ISL1 haplotypes contribute to risk of CHD in white and black/African American populations.

  1. Congenital abnormality of the inner ear and internal auditory canal in a patient with deep sensorineural hearing loss: A case report

    International Nuclear Information System (INIS)

    Rivera, Diego; Saab, Said; Cordoba, Claudia; Montes, Guillermo; Barreto, Tatiana

    2010-01-01

    CT and MRI are complementary studies that have proven to be the best radiological tools in screening of children with unilateral or bilateral sensorineural hearing loss. Only about a 20% of the patients with congenital sensor neural hearing loss have manifestations in images. Due to the fact that most of these manifestations initiate in the bone, the CT is the first line of image study. MRI is indicated in the evaluation of suspected agenesis, neuropathy, aplasia or hypoplasia of the vestibulocochlear nerve, often associated with this type of hearing loss. We present a case of a 6 year old patient with deep bilateral sensor neural hearing loss, with radiological studies to determine a potential candidate for a cochlear or auditory brainstem implant as hearing rehabilitation.

  2. X-linked congenital ptosis and associated intellectual disability, short stature, microcephaly, cleft palate, digital and genital abnormalities define novel Xq25q26 duplication syndrome

    DEFF Research Database (Denmark)

    Møller, R S; Jensen, L R; Maas, S M

    2014-01-01

    , hypogonadism and feeding difficulties. Female carriers are often phenotypically normal or show a similar but milder phenotype, as in most cases the X-chromosome harbouring the duplication is subject to inactivation. Xq28, which includes MECP2 is the major locus for submicroscopic X-chromosome duplications......, whereas duplications in Xq25 and Xq26 have been reported in only a few cases. Using genome-wide array platforms we identified overlapping interstitial Xq25q26 duplications ranging from 0.2 to 4.76 Mb in eight unrelated families with in total five affected males and seven affected females. All affected...... males shared a common phenotype with intrauterine- and postnatal growth retardation and feeding difficulties in childhood. Three had microcephaly and two out of five suffered from epilepsy. In addition, three males had a distinct facial appearance with congenital bilateral ptosis and large protruding...

  3. Congenital Anorectal Malformation Severity Does Not Predict Severity of Congenital Heart Defects.

    Science.gov (United States)

    Jonker, Jara E; Liem, Eryn T; Elzenga, Nynke J; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M A

    2016-12-01

    To determine the prevalence of congenital heart defects (CHDs) in patients with mild or severe congenital anorectal malformations (CARMs), and whether all patients with CARM need pediatric cardiology screening. We included 129 patients with CARM born between 2004 and 2013, and referred to University Medical Center Groningen. Recto-perineal and recto-vestibular fistulas were classified as mild CARMs, all others as severe. Significant patent foramen ovale, secundum atrial septal defect, and small ventricular septum defect were classified as minor CHDs, all others as major. Of 129 patients with CARM, 67% had mild CARM, 33% severe CARM, and 17% were additionally diagnosed with CHD. CHDs were distributed equally in patients with mild or severe CARMs. Patients with multiple congenital abnormalities were more frequently diagnosed with CHD (n = 16, 36%) than patients without multiple congenital malformations (n = 5, 9%, P = .001). Patients with CARM diagnosed with CHD using pediatric cardiac echo screening were younger than 3 months of age at diagnosis. Earlier general pediatric examinations missed 7 (50%) children with mild and 4 (50%) with severe CHDs. The severity of CARM could predict neither prevalence nor severity of CHD. More than one-half of CHDs were missed during the first physical examination. No new CHDs were found in patients older than 3 months of age at the time CARMs were diagnosed. We recommend screening all patients with CARM younger than 3 months of age for CHD at the time CARM is diagnosed. Preoperative echocardiography should be the rule in children younger than 3 months of age and with multiple congenital anomalies. Copyright © 2016 Elsevier Inc. All rights reserved.

  4. Congenital Pulmonary Malformation in Children

    Directory of Open Access Journals (Sweden)

    Montasser Nadeem

    2012-01-01

    Full Text Available Congenital Pulmonary Malformations (CPMs are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  5. Congenital Pulmonary Malformation in Children

    OpenAIRE

    Nadeem, Montasser; Elnazir, Basil; Greally, Peter

    2012-01-01

    Congenital Pulmonary Malformations (CPMs) are a group of rare lung abnormalities affecting the airways, parenchyma, and vasculature. They represent a spectrum of abnormal development rather than discrete pathological entities. They are caused by aberrant embryological lung development which occurs at different stages of intrauterine life.

  6. Cyanotic congenital heart disease

    Energy Technology Data Exchange (ETDEWEB)

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

    1979-12-15

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

  7. Cyanotic congenital heart disease

    International Nuclear Information System (INIS)

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

    1979-01-01

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

  8. Pulse Oximetry and Auscultation for Congenital Heart Disease Detection.

    Science.gov (United States)

    Hu, Xiao-Jing; Ma, Xiao-Jing; Zhao, Qu-Ming; Yan, Wei-Li; Ge, Xiao-Ling; Jia, Bing; Liu, Fang; Wu, Lin; Ye, Ming; Liang, Xue-Cun; Zhang, Jing; Gao, Yan; Zhai, Xiao-Wen; Huang, Guo-Ying

    2017-10-01

    Pulse oximetry (POX) has been confirmed as a specific screening modality for critical congenital heart disease (CCHD), with moderate sensitivity. However, POX is not able to detect most serious and critical cardiac lesions (major congenital heart disease [CHD]) without hypoxemia. In this study, we investigated the accuracy and feasibility of the addition of cardiac auscultation to POX as a screening method for asymptomatic major CHD. A multicenter prospective observational screening study was conducted at 15 hospitals in Shanghai between July 1, 2012, and December 31, 2014. Newborns with either an abnormal POX or cardiac auscultation were defined as screen positive. All screen-positive newborns underwent further echocardiography. False-negative results were identified by clinical follow-up, parents' feedback, and telephone review. We assessed the accuracy of POX plus cardiac auscultation for the detection of major CHD. CHD screening was completed in all 15 hospitals, with a screening rate of 94.0% to 99.8%. In total, 167 190 consecutive asymptomatic newborn infants were screened, of which 203 had major CHD (44 critical and 159 serious). The sensitivity of POX plus cardiac auscultation was 95.5% (95% confidence interval 84.9%-98.7%) for CCHD and 92.1% (95% confidence interval 87.7%-95.1%) for major CHD. The false-positive rate was 1.2% for detecting CCHD and 1.1% for detecting major CHD. In our current study, we show that using POX plus cardiac auscultation significantly improved the detection rate of major CHD in the early neonatal stage, with high sensitivity and a reasonable false-positive rate. It provides strong evidence and a reliable method for neonatal CHD screening. Copyright © 2017 by the American Academy of Pediatrics.

  9. Syndromic Hirschsprung's disease and associated congenital heart disease: a systematic review.

    Science.gov (United States)

    Duess, Johannes W; Puri, Prem

    2015-08-01

    Hirschsprung's disease (HD) occurs as an isolated phenotype in 70% of infants and is associated with additional congenital anomalies or syndromes in approximately 30% of patients. The cardiac development depends on neural crest cell proliferation and is closely related to the formation of the enteric nervous system. HD associated with congenital heart disease (CHD) has been reported in 5-8% of cases, with septation defects being the most frequently recorded abnormalities. However, the prevalence of HD associated with CHD in infants with syndromic disorders is not well documented. This systematic review was designed to determine the prevalence of CHD in syndromic HD. A systematic review of the literature using the keywords "Hirschsprung's disease", "aganglionosis", "congenital megacolon", "congenital heart disease" and "congenital heart defect" was performed. Resulting publications were reviewed for epidemiology and morbidity. Reference lists were screened for additional relevant studies. A total of fifty-two publications from 1963 to 2014 reported data on infants with HD associated with CHD. The overall reported prevalence of HD associated with CHD in infants without chromosomal disorders was 3%. In infants with syndromic disorders, the overall prevalence of HD associated with CHD ranged from 20 to 80 % (overall prevalence 51%). Septation defects were recorded in 57% (atrial septal defects in 29%, ventricular septal defects in 32%), a patent ductus arteriosus in 39%, vascular abnormalities in 16%, valvular heart defects in 4% and Tetralogy of Fallot in 7%. The prevalence of HD associated with CHD is much higher in infants with chromosomal disorders compared to infants without associated syndromes. A routine echocardiogram should be performed in all infants with syndromic HD to exclude cardiac abnormalities.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-10-15

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

  11. Congenital Hypothyroidism

    Science.gov (United States)

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

  12. [Genetics of congenital heart diseases].

    Science.gov (United States)

    Bonnet, Damien

    2017-06-01

    Developmental genetics of congenital heart diseases has evolved from analysis of serial slices in embryos towards molecular genetics of cardiac morphogenesis with a dynamic view of cardiac development. Genetics of congenital heart diseases has also changed from formal genetic analysis of familial recurrences or population-based analysis to screening for mutations in candidates genes identified in animal models. Close cooperation between molecular embryologists, pathologists involved in heart development and pediatric cardiologists is crucial for further increase of knowledge in the field of cardiac morphogenesis and genetics of cardiac defects. The genetic model for congenital heart disease has to be revised to favor a polygenic origin rather than a monogenic one. The main mechanism is altered genic dosage that can account for heart diseases in chromosomal anomalies as well as in point mutations in syndromic and isolated congenital heart diseases. The use of big data grouping information from cardiac development, interactions between genes and proteins, epigenetic factors such as chromatin remodeling or DNA methylation is the current source for improving our knowledge in the field and to give clues for future therapies. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  13. Computed tomography for imaging of pediatric congenital heart disease; Die Computertomographie bei der Bildgebung von Kindern mit kongenitalen Herzvitien

    Energy Technology Data Exchange (ETDEWEB)

    Glaser-Gallion, N.; Stinn, B.; Wildermuth, S.; Leschka, S. [Kantonsspital St.Gallen, Universitaet Zuerich, Institut fuer Radiologie, St. Gallen (Switzerland); Alkadhi, H. [Universitaetsspital Zuerich, Institut fuer Diagnostisch und Interventionelle Radiologie, Zuerich (Switzerland); Lell, M. [Universitaetsklinikum Erlangen, Institut fuer Radiologie, Erlangen (Germany); Goo, H.W. [University of Ulsan, College of Medicine, Asan Medical Center, Department of Radiology, Seoul (Korea, Republic of); Paul, J.F. [Marie Lannelongue Hospital, Radiology Unit, Plessis Robinson (France)

    2011-01-15

    Congenital heart diseases are the most common congenital abnormalities of development. In general, echocardiography and cardiac catheter angiography are considered the gold standard for the evaluation of congenital heart disease. Cardiac magnetic resonance imaging has become an important supplementary imaging modality because of its ability to provide an accurate morphological and functional evaluation. The role of cardiac computed tomography in the imaging of patients with congenital heart disease is becoming increasingly more important due to the development of low radiation dose protocols and improvements in the spatial and temporal resolution. In the preoperative depiction and follow-up after surgical repair of congenital heart diseases, cardiac computed tomography provides detailed information of the heart, the venous and arterial pulmonary circulation as well as systemic arteries. This article reviews the technical aspects of cardiac CT and the modification of examination protocols according to the expected pathology and patient age. The potentials and limitations of the various radiation dose reduction strategies are outlined. (orig.) [German] Kongenitale Herzfehler sind die haeufigsten kongenitalen Fehlbildungen. Echokardiographie und Katheterangiographie gelten allgemein als Goldstandard zur Abklaerung angeborener Herzerkrankungen. Die Magnetresonanztomographie ist aufgrund ihrer Faehigkeit, Herzvitien morphologisch und funktionell zu charakterisieren, als ein wichtiges ergaenzendes Verfahren anzusehen. Durch mehr und mehr dosissparende Untersuchungsprotokolle der neuesten Geraetegenerationen und eine gleichzeitig bessere zeitliche und raeumliche Aufloesung findet die Computertomographie zunehmend Eingang in die Abklaerung kongenitaler Herzfehler. In der praeoperativen Planung und der postoperativen Kontrolle erlaubt sie eine uebersichtliche Darstellung komplexer Fehlbildung nicht nur des Herzens, sondern auch der pulmonalvenoesen und -arteriellen

  14. Feasibility of electron beam tomography in diagnosis of congenital heart disease: comparison with echocardiography

    International Nuclear Information System (INIS)

    Lee, Jongmin J.; Kang, Duk-Sik

    2001-01-01

    Objective: To evaluate the feasibility of electron beam tomography (EBT) for morphological assessment of congenital heart disease. Materials and methods: Sixteen subjects were examined by EBT, transthoracic echocardiography, cardiac cine angiography and surgery. EBT scan was performed using single slice continuous volume mode to acquire high-resolution static image. Double dose contrast medium was injected by bolus technique after measuring scan delay time and calculation of proper injection rate. The results of EBT and echocardiography were compared based on the results of cardiac cine angiography and surgical findings. All anomalous components were evaluated in all subjects and grouped according to major cardiac structures. Statistical analysis was performed to compare two modalities' ability to evaluate the anomalies of major structures. Results: EBT was more sensitive to evaluate the anomalies of systemic vessels, pulmonary vessels and small systemic arteries such as coronary artery. EBT was less sensitive to identify the abnormality of cardiac valves such as valvular regurgitation. There was no difference of sensitivity in evaluation of cardiac chambers and septa between the two modalities. Conclusion: EBT assisted by transthoracic echocardiography is excellent noninvasive modality to diagnose congenital heart disease

  15. Cardiac CT

    International Nuclear Information System (INIS)

    Dewey, Marc

    2011-01-01

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

  16. Cardiac CT

    Energy Technology Data Exchange (ETDEWEB)

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

    2011-07-01

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

  17. Gene Therapy in Cardiac Arrhythmias

    Directory of Open Access Journals (Sweden)

    Praveen S.V

    2006-04-01

    Full Text Available Gene therapy has progressed from a dream to a bedside reality in quite a few human diseases. From its first application in adenosine deaminase deficiency, through the years, its application has evolved to vascular angiogenesis and cardiac arrhythmias. Gene based biological pacemakers using viral vectors or mesenchymal cells tested in animal models hold much promise. Induction of pacemaker activity within the left bundle branch can provide stable heart rates. Genetic modification of the AV node mimicking beta blockade can be therapeutic in the management of atrial fibrillation. G protein overexpression to modify the AV node also is experimental. Modification and expression of potassium channel genes altering the delayed rectifier potassium currents may permit better management of congenital long QT syndromes. Arrhythmias in a failing heart are due to abnormal calcium cycling. Potential targets for genetic modulation include the sarcoplasmic reticulum calcium pump, calsequestrin and sodium calcium exchanger.Lastly the ethical concerns need to be addressed.

  18. Congenital Leukemia in Down's syndrome

    International Nuclear Information System (INIS)

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

    2006-01-01

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

  19. 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

  20. Expanding the cardiac spectrum of Noonan syndrome with RIT1 variant: Left main coronary artery atresia causing sudden death.

    Science.gov (United States)

    Ramond, Francis; Duband, Sébastien; Croisille, Pierre; Cavé, Hélène; Teyssier, Georges; Adouard, Véronique; Touraine, Renaud

    2017-06-01

    Noonan syndrome is a well-known genetic condition associating congenital heart defects, short stature, and distinctive facial features. Pulmonary valve stenosis and hypertrophic cardiomyopathy are the most frequent cardiac abnormalities, the latter being associated with a higher mortality. Here we report for the first time, a case of congenital left main coronary artery atresia in a Noonan syndrome associated with RIT1 variant, leading to unrescued sudden death. This case-report supports the already-suspected severity of the RIT1-related Noonan syndrome compared to average Noonan syndrome, and should encourage clinicians to be very cautious with these patients. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  1. Cardiovascular magnetic resonance in congenital heart disease

    International Nuclear Information System (INIS)

    Cazacu, A.; Ciubotaru, A.

    2010-01-01

    The increasing prevalence of congenital heart disease can be attributed to major improvements in diagnosis and treatment. Cardiovascular magnetic resonance imaging plays an important role in the clinical management strategy of patients with congenital heart disease. The development of new cardiovascular magnetic resonance (CMR) techniques allows comprehensive assessment of complex cardiac anatomy and function and provides information about the long-term residual post-operative lesions and complications of surgery. It overcomes many of the limitations of echocardiography and cardiac catheterization. This review evaluates the role of cardiovascular magnetic resonance imaging modality in the management of subject with congenital heart disease (CHD). (authors)

  2. MRI of congenital urethroperineal fistula

    Energy Technology Data Exchange (ETDEWEB)

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

    2010-12-15

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

  3. MRI of congenital urethroperineal fistula

    International Nuclear Information System (INIS)

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

    2010-01-01

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

  4. RISK FACTORS IN CHILD CONGENITAL MALFORMATIONS

    OpenAIRE

    Alina-Costina LUCA; Mirabela SUBOTNICU

    2015-01-01

    Congenital heart malformations are among the most common congenital malformations. Congenital heart malformations occur due to genetic and environmental factors during embryonic morphogenesis period of the heart. About 25% of these malformations are severe, requiring intervention immediately after birth or in infancy. Abnormalities of structure and function of the heart and great vessels are the consequence of teratogenic factors occurring between day 19 and 45 of gestation. (Yagel et al...

  5. Hip dysplasia and congenital hip dislocation

    Energy Technology Data Exchange (ETDEWEB)

    Lingg, G.; Nebel, G.; von Torklus, D.

    1981-11-01

    In human genetics and orthopedics quite different answers have been given to the question of hereditary transmission and frequency of hip dysplasia in families of children with congenital hip dislocation. We therefore have made roentgenometric measurements of 110 parents of children with congenital hip dislocation. In 25% we found abnormal flat acetabulae, whereas 12% had pathologic deep hips. This may propose a new concept of morphology of congenital hip dysplasia.

  6. Congenital short QT syndrome and implantable cardioverter defibrillator treatment: inherent risk for inappropriate shock delivery.

    Science.gov (United States)

    Schimpf, Rainer; Wolpert, Christian; Bianchi, Francesca; Giustetto, Carla; Gaita, Florenzo; Bauersfeld, Urs; Borggrefe, Martin

    2003-12-01

    A congenital short QT interval constitutes a new primary electrical abnormality associated with syncope and/or sudden cardiac death. We report on the initial use of implantable cardioverter defibrillator (ICD) therapy in patients with inherited short QT interval and discuss sensing abnormalities and detection issues. In five consecutive patients from two unrelated European families who had structurally normal hearts, excessively shortened QT intervals, and a strong positive family history of sudden cardiac death, ICDs were placed for primary and secondary prevention. Mean QT intervals were 252 +/- 13 ms (QTc 287 +/- 13 ms). Despite normal sensing behavior during intraoperative and postoperative device testing, 3 of 5 patients experienced inappropriate shock therapies for T wave oversensing 30 +/- 26 days after implantation. Programming lower sensitivities and decay delays prevented further inappropriate discharges. The congenital short QT syndrome constitutes a new clinical entity with an increased risk for sudden cardiac death. Currently, ICD treatment is the only therapeutic option. In patients with short QT interval and implanted ICD, increased risk for inappropriate therapy is inherent due to the detection of short-coupled and prominent T waves. Careful testing of ICD function and adaptation of sensing levels and decay delays without sacrificing correct arrhythmia detection are essential.

  7. Congenital anomalies in rural black South African neonates - a ...

    African Journals Online (AJOL)

    Infants, including abnormal neonates, born on the days when no infants were ... defined as any gross developmental defect apparent on ... Multiple congenital abnormalities. 9. 1,18 ... chromosomal disorders included a trisomy 13, a trisomy 18.

  8. 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.)

  9. The cardiac phenotype in patients with a CHD7 mutation

    DEFF Research Database (Denmark)

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

    2013-01-01

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

  10. Congenital central hypoventilation syndrome and intestinal ...

    African Journals Online (AJOL)

    ... hypoventilation syndrome (CCHS), also called 'Ondine's curse', is characterised by an abnormal ventilatory response to progressive hypercapnia and sustained hypoxaemia. Neonates with this condition experience hypoventilation or apnoea while asleep. Patients may also have congenital intestinal aganglionosis (CIA), ...

  11. Congenital lobar emphysema: Is surgery routinely necessary ...

    African Journals Online (AJOL)

    Congenital lobar emphysema (CLE) is a rare congenital abnormality characterised by overinflation of a pulmonary lobe. Its aetiology is unknown. The management of CLE has traditionally been surgical. A newborn boy with a birthweight of 2.5 kg was delivered at full-term by caesarian section due to food delivery.

  12. Congenital Heart Disease: Vascular Risk Factors and Medication

    NARCIS (Netherlands)

    H.P.M. Smedts (Dineke)

    2011-01-01

    textabstractCongenital heart disease (CHD) is among the most common congenital abnormalities and involves structural anomalies of the heart and/or related major blood vessels. Congenital heart disease arises in the fi rst trimester of pregnancy, occurring often and in many forms. The reported CHD

  13. Congenital tuberculosis

    African Journals Online (AJOL)

    Prof Ezechukwu

    2012-06-20

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

  14. New aspects of anesthetic management in congenital heart disease "common arterial trunk"

    Directory of Open Access Journals (Sweden)

    Mohsen Ziyaeifard

    2014-01-01

    Full Text Available Now-a-days truncus arteriosus has been known as "common arterial trunk" (CAT and is an uncommon congenital cardiac defect presenting in about 1-3% congenital heart disease. Environmental and genetic factors effects on incidence of CAT and other conotruncal anomalies. The majority patients with CAT and 22q11 deletion have other anomalies such as hypoplasia or aplasia of the thymus or parathyroid glands and immune deficits (T-cell deficiency, calcium metabolism disorder (hypocalcemia, palatal defects, learning and speech disorder, craniofacial anomalies, and neuropsychological abnormalities. CAT without surgical treatment frequently involves early severe pulmonary arterial hypertension (PAH or early death from heart failure and associated conditions. Therefore, without corrective surgical repair, most CAT patients die in the initial years of life. In numerous centers early surgical repair associated with superior than 80% long-standing survival. Anesthesiologist must be performs comprehensive preoperative evaluation of infants or neonates with this disorder. In CAT patient exactly hemodynamic monitoring and suitable techniques to regulate pulmonary vascular resistance and systemic vascular resistance and cardiac function are more important than the select of a special anesthetic drug. Therefore, anesthetic drugs should be carefully administrated and titrate and under monitoring. Management of CAT after surgical repair depends on the adequacy of treatment, cardiac function, level of PAH, and degree of bleeding. Inotropic support is frequently necessary after the cardiac ischemia associated to the surgical repair. Pulmonary vasodilator drugs were used to PAH treatment.

  15. Cine magnetic resonance imaging in congenital heart disease

    International Nuclear Information System (INIS)

    Akagi, Teiji; Kiyomatsu, Yumi; Kato, Hirohisa; Abe, Toushi; Nishimura, Hiroshi; Ohtake, Hisashi; Eto, Takaharu.

    1989-01-01

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

  16. Mr.-Guided Cardiac Interventions Using Mr.-Safe Passive Devices: A Preclinical Study and First-in-Man Congenital Interventions

    NARCIS (Netherlands)

    Tzifa, A.; Krombach, G.A.; Kraemer, N.; Krueger, S.; Schuette, A.; Von Walter, M.; Schaeffter, T.; Qureshi, S.; Krasemann, T.; Rosenthal, E.; Schwartz, C.; Varma, G.; Buhl, A.; Kohlmeier, A.; Buecker, A.; Guenther, R.W.; Razavi, R.

    2011-01-01

    Background: Percutaneous cardiac interventions are currently performed under X-ray guidance. Magnetic resonance imaging has been employed to guide intravascular interventions in the past, but mainly in animals. Translation of MR-guided interventions into humans has been limited by the lack of fully

  17. Congenital Malformations in Infants of Mothers Undergoing Assisted Reproductive Technologies: A Systematic Review and Meta-analysis Study

    Science.gov (United States)

    2017-01-01

    Objectives This meta-analysis aimed to evaluate congenital malformations in infants conceived by assisted reproductive techniques (ART), compared with infants conceived spontaneously. Methods In this study, available resources searched to find relevant articles included PubMed, ScienceDirect, Scopus, Google Scholar, Cochrane, ProQuest, Iranmedex, Magiran, and Scientific Information Database. After extracting the necessary information from evaluated articles, meta-analysis on the articles’ data was performed using Stata version 11.2. Results In this study, from a total of 339 articles, extracted from the initial investigation, ultimately 30 articles were selected for meta-analysis that assessed the use of ART on the risk of congenital abnormalities and some birth complications on 5 470 181 infants (315 402 cases and 5 154 779 controls). The odds ratio (95% confidence interval [CI]) for low birth weight was 1.89 (95% CI, 1.36 to 2.62), preterm labor 1.79 (95% CI, 1.21 to 2.63), cardiac abnormalities 1.43 (95% CI, 1.27 to 1.62), central nervous system abnormalities 1.36 (95% CI, 1.10 to 1.70), urogenital system abnormalities 1.58 (95% CI, 1.28 to 1.94), musculoskeletal disorders 1.35 (95% CI, 1.12 to 1.64), and chromosomal abnormalities in infants conceived by ART was 1.14 (95% CI, 0.90 to 1.44), which were all statistically significant, except chromosomal abnormalities. Conclusions The risk of congenital abnormalities and some birth complications were significantly higher in ART than normal conception, while chromosomal abnormalities were not; therefore, the application of ART should be selected individually for patients by detailed assessment to reduce such risks in the population. PMID:29207452

  18. Evaluation of an Infant with Cholestasis and Congenital Hypopituitarism

    Directory of Open Access Journals (Sweden)

    Wahhaj Beg

    2017-10-01

    Full Text Available We are reporting an infant with persistent abnormal liver function, neonatal jaundice, and intermittent hypoglycemia. Evaluation confirmed congenital hypopituitarism, in the absence of congenital anomalies and midline defect. His jaundice and abnormal liver function improved after treatment with Levothyroxine and hydrocortisone.

  19. The heart: Congenital disease

    International Nuclear Information System (INIS)

    Higgins, C.B.

    1987-01-01

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

  20. Concise Review: Cardiac Disease Modeling Using Induced Pluripotent Stem Cells.

    Science.gov (United States)

    Yang, Chunbo; Al-Aama, Jumana; Stojkovic, Miodrag; Keavney, Bernard; Trafford, Andrew; Lako, Majlinda; Armstrong, Lyle

    2015-09-01

    Genetic cardiac diseases are major causes of morbidity and mortality. Although animal models have been created to provide some useful insights into the pathogenesis of genetic cardiac diseases, the significant species differences and the lack of genetic information for complex genetic diseases markedly attenuate the application values of such data. Generation of induced pluripotent stem cells (iPSCs) from patient-specific specimens and subsequent derivation of cardiomyocytes offer novel avenues to study the mechanisms underlying cardiac diseases, to identify new causative genes, and to provide insights into the disease aetiology. In recent years, the list of human iPSC-based models for genetic cardiac diseases has been expanding rapidly, although there are still remaining concerns on the level of functionality of iPSC-derived cardiomyocytes and their ability to be used for modeling complex cardiac diseases in adults. This review focuses on the development of cardiomyocyte induction from pluripotent stem cells, the recent progress in heart disease modeling using iPSC-derived cardiomyocytes, and the challenges associated with understanding complex genetic diseases. To address these issues, we examine the similarity between iPSC-derived cardiomyocytes and their ex vivo counterparts and how this relates to the method used to differentiate the pluripotent stem cells into a cardiomyocyte phenotype. We progress to examine categories of congenital cardiac abnormalities that are suitable for iPSC-based disease modeling. © AlphaMed Press.

  1. Critical congenital heart disease--utility of routine screening for chromosomal and other extracardiac malformations.

    Science.gov (United States)

    Baker, Kimberly; Sanchez-de-Toledo, Joan; Munoz, Ricardo; Orr, Richard; Kiray, Shareen; Shiderly, Dana; Clemens, Michele; Wearden, Peter; Morell, Victor O; Chrysostomou, Constantinos

    2012-01-01

    Objective.  Infants with critical congenital heart disease (CHD) can have genetic and other extracardiac malformations, which add to the short- and long-term risk of morbidity and perhaps mortality. We sought to examine our center's practice of screening for extracardiac anomalies and to determine the yield of these tests among specific cardiac diagnostic categories. Design.  Retrospective review of infants admitted to the cardiac intensive care unit with a new diagnosis of CHD. Subjects were categorized into six groups: septal defects (SD), conotruncal defects (CTD), single-ventricle physiology (SV), left-sided obstructive lesions (LSO), right-sided obstructive lesions (RSO), and "other" (anomalous pulmonary venous return, Ebstein's anomaly). Screening modalities included genetic testing (karyotype and fluorescent in situ hybridization for 22q11.2 deletion), renal ultrasound (RUS), and head ultrasound (HUS). Results.  One hundred forty-one patients were identified. The incidence of cardiac anomalies was: CTD (36%), SD (18%), SV (18%), LSO (14%), RSO (3%), and "other" (8%). Overall 14% had an abnormal karyotype, 5% had a deletion for 22q11.2, 28% had an abnormal RUS and 22% had abnormal HUS. Patients in SD and SV had the highest incidence of abnormal karyotype (36% and 17%); 22q11.2 deletion was present only in CTD and LSO groups (9% and 7%, respectively); abnormal RUS and HUS were seen relatively uniformly in all categories. Premature infants had significantly higher incidence of renal 43% vs. 24%, and intracranial abnormalities 46% vs. 16%. Conclusion.  Infants with critical CHD and particularly premature infants have high incidence of genetic and other extracardiac anomalies. Universal screening for these abnormalities with ultrasonographic and genetic testing maybe warranted because early detection could impact short and long-term outcomes. © 2011 Wiley Periodicals, Inc.

  2. Congenital genital abnormalities detected during routine ...

    African Journals Online (AJOL)

    2018-06-02

    Jun 2, 2018 ... out South Africa offer a voluntary free service to boys from the age of ten ... This is an Open Access article distributed under the terms of the Creative commons ... bitions about sexuality, denial, false beliefs and alternative.

  3. Congenital absence of the portal vein in a boy

    International Nuclear Information System (INIS)

    Kohda, E.; Hiramatsu, K.; Saeki, Morihiro; Nakano, Miwako; Masaki, Hidekazu; Ogawa, Kenji; Nirasawa, Mali

    1999-01-01

    Congenital absence of the portal vein (CAPV) is a malformation that is generally thought to be limited to females. We encountered an 11-year-old boy with this malformation. In 17 previously reported cases of CAPV, 2 were male. Three male patients, including our case, were Abernethy type Ib malformation. They had no associated liver tumour and two had no additional congenital abnormality. Conversely, 13 of the 15 female patients had congenital abnormalities and 6 had liver mass lesions. (orig.)

  4. Congenital hypothyroidism presenting with postpartum bradycardia

    International Nuclear Information System (INIS)

    Kara, S.; Tayman, C.; Tonbul, A.; Tatli, M.; Andiran, N.; Turkay, S.

    2013-01-01

    Congenital hypothyroidism is a clinical condition characterized by lack of thyroid hormone because of thyroid gland developmental and thyroid hormone biosynthesis disorders. The most common cause of permanent hypothyroidism is congenital factors. Prompt diagnosis is critical. However, overt signs of hypothyroidism are rarely present at birth, and 95% of affected babies are asymptomatic. Hypoxemia, apnea, acidosis, increased intracranial pressure, vagal stimulus and central nerve system abnormalities represent the most common causes of bradycardia in the neonate. Bradycardia associated with congenital hypothyroidism is very rare. In this paper, a case of severe congenital hypothyroidism, induced by maternal blocker antibodies, who presented with bradycardia, is reported. (author)

  5. Cardiac imaging in adults

    International Nuclear Information System (INIS)

    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

  6. 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.

  7. 1st and 2nd Trimester Headsize in Fetuses with Congenital Heart Disease: A Cohort Study

    DEFF Research Database (Denmark)

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

    2014-01-01

    and screening for fetal malformations is carried out. Our cohort includes all fetuses in Western Denmark (2.9 million inhabitants) screened in between January 1st 2012 and December 31st 2013, diagnosed with any structural, non-syndromic congenital heart disease either during pregnancy or up to 6 months after......Background: Congenital heart disease (CHD) is associated with neuro-developmental disorders. The influence of CHD on the brain may be present in the fetus. We hypothesize that fetal cerebral growth is impaired as early as 2nd trimester. Aim: To investigate if fetal cerebral growth is associated...... birth. Results 276 fetuses with CHD were identified. 114 (41%) were genetically screened primarily by chromosomal microarray analysis (n=82). Fetuses with identified chromosomal abnormalities were excluded as were multiple gestation fetuses and fetuses with major extra cardiac malformations. Data from...

  8. Prenatal detection of structural cardiac defects and presence of associated anomalies: a retrospective observational study of 1262 fetal echocardiograms.

    Science.gov (United States)

    Mone, Fionnuala; Walsh, Colin; Mulcahy, Cecelia; McMahon, Colin J; Farrell, Sinead; MacTiernan, Aoife; Segurado, Ricardo; Mahony, Rhona; Higgins, Shane; Carroll, Stephen; McParland, Peter; McAuliffe, Fionnuala M

    2015-06-01

    The aim of this study is to document the detection of fetal congenital heart defect (CHD) in relation to the following: (1) indication for referral, (2) chromosomal and (3) extracardiac abnormalities. All fetal echocardiograms performed in our institution from 2007 to 2011 were reviewed retrospectively. Indication for referral, cardiac diagnosis based on the World Health Organization International Classification of Diseases tenth revision criteria and the presence of chromosomal and extracardiac defects were recorded. Of 1262 echocardiograms, 287 (22.7%) had CHD. Abnormal anatomy scan in pregnancies originally considered to be at low risk of CHD was the best indicator for detecting CHD (91.2% of positive cardiac diagnoses), compared with other indications of family history (5.6%) or maternal medical disorder (3.1%). Congenital anomalies of the cardiac septa comprised the largest category (n = 89), within which atrioventricular septal defects were the most common anomaly (n = 36). Invasive prenatal testing was performed for 126 of 287 cases, of which 44% (n = 55) had a chromosomal abnormality. Of 232 fetuses without chromosomal abnormalities, 31% had an extracardiac defect (n = 76). Most CHDs occur in pregnancies regarded to be at low risk, highlighting the importance of a routine midtrimester fetal anatomy scan. Frequent association of fetal CHD and chromosomal and extracardiac pathology emphasises the importance of thorough evaluation of any fetus with CHD. © 2015 John Wiley & Sons, Ltd.

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

    Energy Technology Data Exchange (ETDEWEB)

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

    1985-04-01

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

  10. Congenital rubella

    Science.gov (United States)

    ... that usually closes shortly after birth remains open ( patent ductus arteriosus ) Narrowing of the large artery that ... prior to pregnancy can prevent congenital rubella. Pregnant women who have not had the vaccine should avoid ...

  11. Congenital Hepatic Cyst

    Directory of Open Access Journals (Sweden)

    Aldo Recinos

    2017-04-01

    Full Text Available Congenital hepatic cyst is a rare and nonsymptomatic condition in infants and children. Its incidence is 2.5% in the postnatal life with a much lower incidence in the prenatal period. Incidental finding on antenatal imaging is the most common presentation. We present a case of a newborn in whom fetal ultrasound detected a cyst within the fetal liver. Postnatal imaging revealed a liver cyst in the right lobe of the liver, with no other intrahepatic structure affected. Liver function tests were abnormal, but the patient was asymptomatic. Posterior follow-up imaging showed a minor decrease in size. Management of congenital hepatic cyst is usually conservative, done with periodic ultrasound monitoring. However, surgical treatment is the mainstay of treatment when hydrops, progressive enlargement, hemorrhage, torsion, or compression of adjacent structures occurs. Malignant transformation can occur, but it is extremely rare. Partial or total removal of the cyst is the preferred treatment in neonates with a large lesion.

  12. Clinical and morphological characteristics of malformations in infants with congenital cytomegalovirus infection and congenital toxoplasmosis

    Directory of Open Access Journals (Sweden)

    L. Yu. Barycheva

    2015-01-01

    Full Text Available The results of following up infants with intrauterine infections and malformations were retrospectively analyzed. Infants with malformations were diagnosed as having congenital cytomegalovirus infection and congenital toxoplasmosis in 127 and 69 cases, respectively. The aim of the study was to characterize malformations in infants with congenital cytomegalovirus and congenital Toxoplasma infections. The infants with malformations in congenital cytomegalovirus infection were found to have higher mortality rates (61,4% than those with congenital toxoplasmosis (34,8%. Postmortem analysis indicated that there was a predominance of embryopathies in infants with congenital cytomegalovirus infection and that of fetopathies in those with congenital toxoplasmosis. The dead infants with congenital cytomegalovirus infection had more commonly developed visceral defects, including heart diseases, pneumopathies, gastrointestinal and genitourinary abnormalities; fetopathies of the central nervous system and eye were prevalent in congenital toxoplasmosis. The surviving children with congenital toxoplasmosis were more frequently observed to have disabling CNS and ocular sequels as obstructive hydrocephalus, infantile cerebral palsy, complete or partial blindness, and cerebrasthenic disorders than those with congenital cytomegalovirus infection. 

  13. Patent ductus arteriosus associated with congenital anomaly of coronary artery.

    Science.gov (United States)

    Maleki, Majid; Azizian, Nassrin; Esmaeilzadeh, Maryam; Moradi, Bahieh

    2013-11-01

    We reported a case of patent ductus arteriosus (PDA) with congenital anomaly of coronary arteries as abnormal origin of right coronary artery (RCA) and left coronary artery (LCA) from a single ostium of the right coronary sinus. A 21-year-old man referred to our institution for evaluation of cardiac murmur. He has suffered from palpitation and atypical chest pain for three months. On physical examination, a continuous murmur was heard in the second left parasternal space. Transthoracic echocardiography showed normal left and right ventricular size and systolic function (LVEF = 55%). Main pulmonary artery (PA) and left pulmonary artery (LPA) branch were considerably dilated. Considering normal coronary flow, lack of clinical evidence of myocardial ischemia and echocardiography findings, patient underwent surgical closure of PDA via left thoracotomy and after five days discharged uneventfully.

  14. The incidence of chromosome abnormalities in neonates with structural heart disease.

    Science.gov (United States)

    Dykes, John C; Al-mousily, Mohammad F; Abuchaibe, Eda-Cristina; Silva, Jennifer N; Zadinsky, Jennifer; Duarte, Daniel; Welch, Elizabeth

    2016-04-01

    This study was conducted to determine the prevalence of chromosomal anomalies in newborns with structural heart disease admitted to the cardiac intensive care unit (CICU) at Nicklaus Children's Hospital (NCH). A retrospective review identified newborns age 30 days or less admitted to NCH CICU between 2004 and 2010. Patients with structural heart disease who required admission to our CICU and received karyotype or karyotype and fluorescent in situ hybridization (FISH) testing were included in the study. All patients were examined for the presence of dysmorphic features. Four hundred and eighty-two patients met the criteria for the study; 405 (84%) received both karyotype and FISH. Chromosome abnormalities were present in 86 (17.8%) patients. Syndromes accounted for 20 (5.1%) of those with normal chromosomes. Dysmorphic features were seen in 79.1% of patients with abnormal chromosomes and 25.5% of those with normal chromosomes. All patients with syndromes were dysmorphic. Race and gender did not significantly affect the incidence of genetic abnormalities. Chromosome abnormalities, including syndromes, are prevalent in newborns with congenital heart disease. Further research is needed to evaluate the utility of cytogenetic screening in all children with congenital heart disease. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

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

    Science.gov (United States)

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

    2016-12-01

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

  16. 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).

  17. Analysis of genitourinary anomalies in patients with VACTERL (Vertebral anomalies, Anal atresia, Cardiac malformations, Tracheo-Esophageal fistula, Renal anomalies, Limb abnormalities) association.

    Science.gov (United States)

    Solomon, Benjamin D; Raam, Manu S; Pineda-Alvarez, Daniel E

    2011-06-01

    The goal of this study was to describe a novel pattern of genitourinary (GU) anomalies in VACTERL association,which involves congenital anomalies affecting the vertebrae,anus, heart, trachea and esophagus, kidneys, and limbs.We collected clinical data on 105 patients diagnosed with VACTERL association and analyzed a subset of 89 patients who met more stringent inclusion criteria. Twenty-one percent of patients have GU anomalies, which are more severe (but not more frequent) in females. Anomalies were noted in patients without malformations affecting the renal, lower vertebral, or lower gastrointestinal systems. There should be a high index of suspicion for the presence of GU anomalies even in patients who do not have spatially similar malformations.

  18. Screening of Long Q-T Syndrome in Patients with Congenital Sensorineural Hearing Loss (Jervell and Lange Neilesen Syndrome: Prevention of Fatal Events

    Directory of Open Access Journals (Sweden)

    Farid Matin

    2001-01-01

    Full Text Available Objective:The idiopathic long Q-T syndrome is an infrequently occurring disorder in which affected individuals have an unusual electrocardiographic repolarization abnormality presenting as syncope or loss of consciousness related to ventricular tachycardia or fibrillation. Congenital long Q-T prolongation can be associated with congenital deafness in an autosomal recessive manner (Jervell and Lange-Nielsen syndrome. The purpose of this stuff was to screen this electrocardiographic abnormality in deaf-mute school children in our population, which has not been yet performed. Materials & Methods:  Of 1190 patients with hearing loss, 779 had congenital sensorineural deafness (CSD, aged 13±3.8 years (4-24, 63% female and 37% male. The family history of deafness was as follows: Cardiac axis deviation was found in 56 (7% patients. Electrical conduction abnormalities were found in 12 (15% patients, Wolff-Parkinson-White syndrome, sinus bradycardia, and sinus arrhythmia were found in 2 (0.25%, 4 (0.5%, and 3 (0.38% patients, respectively. The Q-T interval, and Q-Tc duration were 312.6±28.9 ms (200-500 ms, median 320 ms, and 383.6±29.3 ms (232-527 ms, median 413ms, respectively. Long Q-T syndrome was found in 4 (0.5% patients (3F and 1M. Results: Two of these 4 patients had total deafness and 2 had profound hearing loss. None of the patients with mild deafness had Q-T prolongation. Only one of these patients was symptomatic, and had been treated as a case of epilepsy for several years. Conclusion: This data supports the presence of long Q-T syndrome in patients with sensorineural hearing loss in our population, so routine electrocardiographic screening of anyone with congenital deafness is warranted to prevent subsequent associated cardiac arrhythmias and sudden cardiac death.

  19. Congenital absence of the portal vein in a child with Turner syndrome

    International Nuclear Information System (INIS)

    Noe, Jacob A.; Burton, Edward M.; Pittman, Heather C.

    2006-01-01

    Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

  20. Congenital absence of the portal vein in a child with Turner syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Noe, Jacob A.; Burton, Edward M. [Department of Radiology, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States); Pittman, Heather C. [Department of Pediatrics, University of Tennessee College of Medicine-Chattanooga Branch, Chattanooga, TN (United States)

    2006-06-15

    Congenital absence of the portal vein (CAPV) is a rare malformation associated with hepatic encephalopathy and liver function abnormalities. We report a case of a 2-year-old with Turner syndrome, CAPV, and congenital heart malformations. (orig.)

  1. Medico-legal perspectives on sudden cardiac death in young athletes.

    Science.gov (United States)

    Oliva, Antonio; Grassi, Vincenzo M; Campuzano, Oscar; Brion, Maria; Arena, Vincenzo; Partemi, Sara; Coll, Monica; Pascali, Vincenzo L; Brugada, Josep; Carracedo, Angel; Brugada, Ramon

    2017-03-01

    Sudden cardiac death (SCD) in a young athlete represents a dramatic event, and an increasing number of medico-legal cases have addressed this topic. In addition to representing an ethical and medico-legal responsibility, prevention of SCD is directly correlated with accurate eligibility/disqualification decisions, with an inappropriate pronouncement in either direction potentially leading to legal controversy. This review summarizes the common causes of SCD in young athletes, divided into structural (hypertrophic cardiomyopathy, arrhythmogenic cardiomyopathy, congenital coronary artery anomalies, etc.), electrical (Brugada, congenital LQT, Wolf-Parkinson-White syndrome, etc.), and acquired cardiac abnormalities (myocarditis, etc.). In addition, the roles of hereditary cardiac anomalies in SCD in athletes and the effects of a positive result on them and their families are discussed. The medico-legal relevance of pre-participation screening is analyzed, and recommendations from the American Heart Association and European Society of Cardiology are compared. Finally, the main issues concerning the differentiation between physiologic cardiac adaptation in athletes and pathologic findings and, thereby, definition of the so-called gray zone, which is based on exact knowledge of the mechanism of cardiac remodeling including structural or functional adaptions, will be addressed.

  2. A case of hypoplasia of left lung with very rare associations with congenital absence of left pulmonary artery and right-sided aortic arch

    Directory of Open Access Journals (Sweden)

    Trilok Chand

    2017-01-01

    Full Text Available The absence of one of the pulmonary artery with associated hypoplasia of lung and great vessel abnormality is a rare finding. The incidence of this rare congenital abnormality is around 1 in 200,000 live birth. The absence of the left side pulmonary artery is again uncommon, and associated cardiac malformations are usually tetralogy of fallot or septal defects rather than an aortic arch defect. Our case is a unique case in It’s associated congenital anomalies. He was presented with recurrent pneumothorax and hemoptysis, and on thorough workup, he was diagnosed to have an absence of left pulmonary artery with hypoplasia of the left lung and associated right-sided aortic arch. The patient’s family has declined the surgical option, and he was managed conservatively and kept in close follow-up.

  3. Serum Levels of Tissue Inhibitors of Metalloproteinase 2 in Patients With Systemic Sclerosis With Duration More Than 2 Years: Correlation With Cardiac and Pulmonary Abnormalities

    Directory of Open Access Journals (Sweden)

    Amira Shahin

    2006-01-01

    with elevated TIMP-2 levels was significantly higher than dSSc patients with normal levels (P=.013. Four patients out of five with elevated TIMP-2 levels showed diastolic dysfunction (80%, compared to 2 out of 15 lSSc patients with normal levels (13.3%, with P=.014. Our research, though involving a small group of patients, points to the probable role of TIMP-2 in the development of pulmonary lesions in dSSc patients and cardiac lesions in lSSc patients with duration equal to or more than 2 years.

  4. Severe asthma with markedly increased asbestos of 2 types & TXB2, and markedly reduced acetylcholine, DHEA & drug uptake in parts of upper lungs, & similar abnormalities at respiratory & cardiac center of medulla oblongata: complete elimination of this asthma within 15 days using one optimal dose of astragalus & application of strong red light & EMF neutralizer on respiratory centers of abnormal medulla oblongata.

    Science.gov (United States)

    Omura, Yoshiaki; Henoch, Avraham; Shimotsuura, Yasuhira; Duvvi, Harsha; Kawashima, Hiroshi; Ohki, Motomu

    2009-01-01

    When the window of an Asbestos-contaminated room from a broken ceiling was opened wide, A 73 year-old male physician of Oriental origin, who was sitting in the next room, suddenly developed a severe asthma attack, which did not stop by the use of a hand-held Albuterol inhaler. Temporary relief was obtained only by using a Compressor-Nebulizer (Inspiration 626 with Albuterol Sulfate Inhalation Solution 0.083%). During the attack, abnormal areas were discovered at the upper lobes of both lungs, where Thromboxane B2 (TXB2) was markedly increased to 500 ng (BDORT units) (the rest of the lung had about 2.5 ng), 2 types of Asbestos (Chrysotile and Crocidolite) were abnormally increased to 0.120-0.135 mg, (BDORT units) Acetylcholine was markedly reduced to 0.5 ng (the rest of the lung was low, about 100 ng), DHEA was extremely reduced to 1 ng (the rest of the lung had about 52 ng), and telomere was less than 1 yg (= 10(-24) g). Bacterial & viral infections were also present in these abnormal areas, but no antibiotics entered the abnormal parts of the lungs. Therefore, one optimal dose of Astragalus was given once, which resulted in a rapid continuous excretion of large amounts of the above 2 types of Asbestos & TXB2 in urine & sputum, and Asthma symptoms reduced slightly in severity. Additional acupuncture & shiatsu given on all the known acupuncture points for lung disease only created slight, temporary improvement. Then, the respiratory & cardiac center of the Medulla Oblongata was found to have similar abnormalities as the lungs. Therefore, 100 mW output of Light Emitting Diode of red spectra (650 nm center spectrum) was projected on the abnormal area of the medulla oblongata on the back of the head. This resulted drug uptake of on and off and significantly reduced difficulty of breathing. Additional application of the EMF Neutralizer on the abnormal area of the Medulla Oblongata for 3 hours resulted in continuous drug uptake and complete disappearance of asthma. As a

  5. Tracheostomy After Operations for Congenital Heart Disease: An Analysis of the Society of Thoracic Surgeons Congenital Heart Surgery Database.

    Science.gov (United States)

    Mastropietro, Christopher W; Benneyworth, Brian D; Turrentine, Mark; Wallace, Amelia S; Hornik, Christoph P; Jacobs, Jeffrey P; Jacobs, Marshall L

    2016-06-01

    Information concerning tracheostomy after operations for congenital heart disease has come primarily from single-center reports. We aimed to describe the epidemiology and outcomes associated with postoperative tracheostomy in a multi-institutional registry. The Society of Thoracic Surgeons Congenital Heart Database (2000 to 2014) was queried for all index operations with the adverse event "postoperative tracheostomy" or "respiratory failure, requiring tracheostomy." Patients with preoperative tracheostomy or weighing less than 2.5 kg undergoing isolated closure of patent ductus arteriosus were excluded. Trends in tracheostomy incidence over time from January 2000 to June 2014 were analyzed with a Cochran-Armitage test. The patient characteristics associated with operative mortality were analyzed for January 2010 to June 2014, including deaths occurring up to 6 months after transfer of patients to long-term care facilities. From 2000 to 2014, the incidence of tracheostomy after operations for congenital heart disease increased from 0.11% in 2000 to a high of 0.76% in 2012 (p tracheostomy. The median age at operation was 2.5 months (25th, 75th percentile: 0.4, 7). Prematurity (n = 165, 26%), genetic abnormalities (n = 298, 46%), and preoperative mechanical ventilation (n = 275, 43%) were common. Postoperative adverse events were also common, including cardiac arrest (n = 131, 20%), extracorporeal support (n = 87, 13%), phrenic or laryngeal nerve injury (n = 114, 18%), and neurologic deficit (n = 51, 8%). The operative mortality was 25% (n = 153). Tracheostomy as an adverse event of operations for congenital heart disease remains rare but has been increasingly used over the past 15 years. This trend and the considerable mortality risk among patients requiring postoperative tracheostomy support the need for further research in this complex population. Copyright © 2016 The Society of Thoracic Surgeons. Published by Elsevier Inc. All rights reserved.

  6. Serial Sampling of High-Sensitivity Cardiac Troponin T May Not Be Required for Prediction of Acute Myocardial Infarction Diagnosis in Chest Pain Patients with Highly Abnormal Concentrations at Presentation.

    Science.gov (United States)

    Mueller-Hennessen, Matthias; Mueller, Christian; Giannitsis, Evangelos; Biener, Moritz; Vafaie, Mehrshad; deFilippi, Christopher R; Christ, Michael; Ordóñez-Llanos, Jorge; Panteghini, Mauro; Plebani, Mario; Verschuren, Franck; Melki, Dina; French, John K; Christenson, Robert H; Body, Richard; McCord, James; Dinkel, Carina; Katus, Hugo A; Lindahl, Bertil

    2017-02-01

    Guidelines for diagnosing acute myocardial infarction (AMI) recommend adding kinetic changes to the initial cardiac troponin (cTn) blood concentration to improve AMI diagnosis. We hypothesized that kinetic changes may not be required in patients presenting with highly abnormal cTn. Patients presenting with suspected AMI to the emergency department were enrolled in a prospective diagnostic study. We assessed the positive predictive value (PPV) of initial high-sensitivity cardiac troponin T (hs-cTnT) blood concentrations alone and in combination with kinetic changes for AMI. Predefined relative changes (δ change of ≥20%) and absolute changes (Δ change ≥9.2 ng/L) within different time intervals (1 h, 2 h, and 4-14 h after presentation) were assessed. The final diagnosis was adjudicated by 2 independent cardiologists. Among 1282 patients, 213 (16.6%) patients had a final diagnosis of AMI. For AMI prediction, PPVs increased from 48.8% for an initial hs-cTnT >14 ng/L to 87.2% for >60 ng/L, whereas PPVs remained unchanged for higher hs-cTnT concentrations at baseline (87.1% for both >80 ng/L and >100 ng/L). With addition of 20% relative Δ change, PPVs were not further improved in patients with baseline hs-cTnT >80 ng/L using the 1-h (84.0%) and 2-h (88.9%) intervals, and only minimally when extending the interval to 4-14 h (91.2% for >80 ng/L and 90.4% for >100 ng/L, respectively). Similar findings were observed when applying absolute changes. In chest pain patients with highly abnormal hs-cTnT concentrations at presentation, subsequent blood draws may not be required, as they do not provide incremental diagnostic value for prediction of AMI diagnosis. © 2016 American Association for Clinical Chemistry.

  7. Congenital and perinatal cytomegalovirus infection

    Directory of Open Access Journals (Sweden)

    Chun Soo Kim

    2010-01-01

    Full Text Available Cytomegalovirus (CMV is currently the most common agent of congenital infection and the leading infectious cause of brain damage and hearing loss in children. Symptomatic congenital CMV infections usually result from maternal primary infection during early pregnancy. One half of symptomatic infants have cytomegalic inclusion disease (CID, which is characterized by involvement of multiple organs, in particular, the reticuloendothelial and central nervous system (CNS. Moreover, such involvement may or may not include ocular and auditory damage. Approximately 90% of infants with congenital infection are asymptomatic at birth. Preterm infants with perinatal CMV infection can have symptomatic diseases such as pneumonia, hepatitis, and thrombocytopenia. Microcephaly and abnormal neuroradiologic imaging are associated with a poor prognosis. Hearing loss may occur in both symptomatic and asymptomatic infants with congenital infection and may progress through childhood. Congenital infection is defined by the isolation of CMV from infants within the first 3 weeks of life. Ganciclovir therapy can be considered for infants with symptomatic congenital CMV infection involving the CNS. Pregnant women of seronegative state should be counseled on the importance of good hand washing and other control measures to prevent CMV infection. Heat treatment of infected breast milk at 72?#608;for 5 seconds can eliminate CMV completely.

  8. Thallium-201 is comparable to technetium-99m-sestamibi for estimating cardiac function in patients with abnormal myocardial perfusion imaging

    Directory of Open Access Journals (Sweden)

    Ming-Che Wu

    2015-11-01

    Full Text Available We analyzed the left-ventricular functional data obtained by cardiac-gated single-photon emission computed tomography myocardial perfusion imaging (MPI with thallium-201 (Tl-201 and technetium-99m-sestamibi (MIBI protocols in different groups of patients, and compared the data between Tl-201 and MIBI. Two hundred and seventy-two patients undergoing dipyridamole stress/redistribution Tl-201 MPI and 563 patients undergoing 1-day rest/dipyridamole stress MIBI MPI were included. Higher mean stress ejection fraction (EF, rest EF, and change in EF (ΔEF were noticed in the normal MPI groups by both Tl-201 and MIBI protocols. Higher mean EF was observed in the females with normal MPI results despite their higher mean age. Comparisons between the Tl-201 and MIBI groups suggested a significant difference in all functional parameters, except for the rest end diastolic volume/end systolic volume and ΔEF between groups with negative MPI results. For the positive MPI groups, there was no significant difference in all parameters, except for the change in end diastolic volume and change in end systolic volume after stress between both protocols. The Tl-201 provides comparable left-ventricular functional data to MIBI cardiac-gated single-photon emission computed tomography in patients with positive MPI results, and may therefore be undertaken routinely for incremental functional information that is especially valuable to this patient group.

  9. 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.

  10. 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.)

  11. Nonmuscular involvement in merosin-negative congenital muscular dystrophy.

    NARCIS (Netherlands)

    Gilhuis, H.J.; Donkelaar, H.J. ten; Tanke, R.B.; Vingerhoets, D.M.; Zwarts, M.J.; Verrips, A.; Gabreëls, F.J.M.

    2002-01-01

    The spectrum of nonmuscular involvement in six children with merosin-negative congenital muscular dystrophy is described. In all children, biochemical, neuroradiologic, cardiac, and neurophysiologic studies were performed. Cerebral structures that were myelinated at gestation, including internal

  12. Quantification of pulmonary regurgitation and prediction of pulmonary valve replacement by echocardiography in patients with congenital heart defects in comparison to cardiac magnetic resonance imaging.

    Science.gov (United States)

    Dellas, Claudia; Kammerer, Laura; Gravenhorst, Verena; Lotz, Joachim; Paul, Thomas; Steinmetz, Michael

    2018-04-01

    Pulmonary regurgitation (PR) is common in patients with congenital heart defects (CHD) and contributes to morbidity and mortality in the long-term. We investigated in this retrospective analysis whether readily accessible echocardiographic parameters are useful for quantification of PR and for predicting pulmonary valve replacement (PVR) in comparison to the gold-standard phase contrast (PC) flow measurements from cardiovascular magnetic resonance (CMR). Continuous wave (CW) Doppler and colour flow images in echocardiograms from 53 patients with CHD were analysed. Slope and jet-to-RVOT ratio correlated significantly with CMR-assessed regurgitation fraction (RF), whereas pressure half time (PHT) showed an inverse correlation. Patients with mild PR in CMR had significantly higher PHT, lower slope and jet-to-RVOT ratio than patients with moderate or severe regurgitation. The AUC regarding PR severity was 0.778 for PHT (95% CI, 0.649-0.907; P = 0.007 for CMR-RF ≤ 35%), 0.744 for slope (95% CI, 0.603-0.885; P = 0.017 for CMR-RF > 35%) and 0.652 for jet-to-RVOT ratio (95% CI, 0.473-0.860; P = 0.168 for CMR-RF > 35%). The optimal cut-off values calculated from ROC analysis were 95 ms for PHT and 4.9 m/s 2 for slope. In logistic regression analysis, slope emerged as the most valuable parameter for predicting the indication for PVR (OR 12.9, 95% CI, 1.8-90.9, P = 0.010). In conclusion, echocardiographic assessment of PR was feasible. Both parameters, PHT and in particular slope, were predictors for PVR. Thus, echocardiography appears appropriate in the management of patients with PR.

  13. Increased Prevalence of Renal and Urinary Tract Anomalies in Children with Congenital Hypothyroidism

    Science.gov (United States)

    Kumar, Juhi; Gordillo, Roberto; Kaskel, Frederick J.; Druschel, Charlotte M.; Woroniecki, Robert P.

    2013-01-01

    Objective We investigated the prevalence of congenital renal and urologic anomalies in children with congenital hypothyroidism to determine whether further renal and urologic investigations would be of benefit. Study design Prevalence of congenital hypothyroidism was obtained from the New York State Congenital Malformation Registry. The occurrence of urinary tract anomalies were calculated for children with congenital hypothyroidism and compared to children without congenital hypothyroidism. In addition we obtained congenital hypothyroidism data from New York State newborn screening, and the cases were matched to Congenital Malformation Registry. Results Analysis of Congenital Malformation Registry data showed 980 children with congenital hypothyroidism and 3 661 585 children without congenital hypothyroidism born in New York State (1992-2005). Children with congenital hypothyroidism have a significantly increased risk of congenital renal and urological anomalies with the odds ratio (OR) of 13.2 (10.6-16.5). The other significantly increased defects in congenital hypothyroidism were cardiac, gastrointestinal, and skeletal. Analysis of matched data confirmed an increase of congenital renal and urologic anomalies with OR of 4.8 (3.7-6.3). Conclusions Children with congenital hypothyroidism have an increased prevalence of congenital renal and urologic anomalies. We suggest that these children should be evaluated for the presence of congenital renal and urologic anomalies with renal ultrasonography, and that further studies of common genes involved in thyroid and kidney development are warranted. PMID:18823909

  14. A pilot study of expenditures on, and utilization of resources in, health care in adults with congenital heart disease.

    Science.gov (United States)

    Moons, P; Siebens, K; De Geest, S; Abraham, I; Budts, W; Gewillig, M

    2001-05-01

    Congenital cardiac disease may be a chronic condition, necessitating life-long follow-up for a substantial proportion of the patients. Such patients, therefore, are often presumed to be high users of resources for health care. Information on utilization of resources in adults with congenital heart disease, however, is scarce. This retrospective pilot study, performed in Belgium, investigated 192 adults with congenital heart disease to measure the annual expenditures and utilization of health care and compared the findings with data from the general population. We also sought to explore demographic and clinical parameters as predictors for the expenditures. Hospitalization was documented in 20.3% of the patients, with a median length of stay of 5 days. The overall payment by health insurance associations in 1997 was 1794.5 ECU per patient, while patients paid on average 189.5 ECU out-of-pocket. For medication, the average reimbursement and out-of-pocket expenses were estimated at 78 ECU and 20 ECU, respectively. Expenditures for patients with congenital heart disease were considerably higher than the age and gender-corrected expenditures for the general population (411.7 ECU), though this difference was accounted for by only one-eighth of the cohort of those with congenital heart disease. In general, higher expenditures were associated with abnormal left ventricular end-diastolic diameter, female gender, functional impairment and higher age, although the explained variance was limited. Our study has provided pilot data on the economic outcomes for patients with congenital heart diseases. We have identified parameters that could predict expenditure, but which will have to be examined in future research. This is needed to develop guidelines for health insurance for those with congenital heart diseases.

  15. Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis

    Energy Technology Data Exchange (ETDEWEB)

    Yekeler, Ensar; Genchellac, Hakan; Dursun, Memduh; Acunas, Gulden [Istanbul Faculty of Medicine, Department of Radiology, Istanbul (Turkey); Ozmen, Meral [Istanbul Faculty of Medicine, Department of Paediatric Neurology, Istanbul (Turkey)

    2004-11-01

    Congenital bilateral perisylvian syndrome (CBPS) is a congenital neurological syndrome characterized by pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities observed on imaging. The described abnormality in CBPS is polymicrogyria located in the frontal, parietal, and/or occipital lobes. A few syndromes or abnormalities associated with this syndrome have been documented. Pituitary abnormalities are rare disorders. Association of CBPS with pituitary abnormalities has not been reported previously. In this case, a combination of bilateral perisylvian polymicrogyria with pituitary hypoplasia and ectopic neurohypophysis, caused by a possible single common insult, is presented. (orig.)

  16. Congenital bilateral perisylvian syndrome with pituitary hypoplasia and ectopic neurohypophysis

    International Nuclear Information System (INIS)

    Yekeler, Ensar; Genchellac, Hakan; Dursun, Memduh; Acunas, Gulden; Ozmen, Meral

    2004-01-01

    Congenital bilateral perisylvian syndrome (CBPS) is a congenital neurological syndrome characterized by pseudobulbar palsy, cognitive deficits and bilateral perisylvian abnormalities observed on imaging. The described abnormality in CBPS is polymicrogyria located in the frontal, parietal, and/or occipital lobes. A few syndromes or abnormalities associated with this syndrome have been documented. Pituitary abnormalities are rare disorders. Association of CBPS with pituitary abnormalities has not been reported previously. In this case, a combination of bilateral perisylvian polymicrogyria with pituitary hypoplasia and ectopic neurohypophysis, caused by a possible single common insult, is presented. (orig.)

  17. Thickened cortical bones in congenital neutropenia

    International Nuclear Information System (INIS)

    Boechat, M.I.; Gormley, L.S.; O'Laughlin, B.J.

    1987-01-01

    Congenital neutropenia is an uncommon entity which may be familial and has a wide spectrum of clinical expression. Three sisters with the severe form of the disease, that suffered from recurrent infections which lead to their demise are described. Review of their radiographs revealed the presence of cortical thickening of the bones. Although several syndroms with different bone abnormalities have been reported associated with neutropenia, the radiographic finding of thickened cortex in children with congenital neutropenia has not been previously described. (orig.)

  18. Thickened cortical bones in congenital neutropenia

    Energy Technology Data Exchange (ETDEWEB)

    Boechat, M.I.; Gormley, L.S.; O' Laughlin, B.J.

    1987-02-01

    Congenital neutropenia is an uncommon entity which may be familial and has a wide spectrum of clinical expression. Three sisters with the severe form of the disease, that suffered from recurrent infections which lead to their demise are described. Review of their radiographs revealed the presence of cortical thickening of the bones. Although several syndroms with different bone abnormalities have been reported associated with neutropenia, the radiographic finding of thickened cortex in children with congenital neutropenia has not been previously described.

  19. A prospective evaluation of contrast and radiation dose and image quality in cardiac CT in children with complex congenital heart disease using low-concentration iodinated contrast agent and low tube voltage and current.

    Science.gov (United States)

    Hou, Qiao-Ru; Gao, Wei; Sun, Ai-Min; Wang, Qian; Qiu, Hai-Sheng; Wang, Fang; Hu, Li-Wei; Li, Jian-Ying; Zhong, Yu-Min

    2017-02-01

    To the assess image quality, contrast dose and radiation dose in cardiac CT in children with congenital heart disease (CHD) using low-concentration iodinated contrast agent and low tube voltage and current in comparison with standard dose protocol. 110 patients with CHD were randomized to 1 of the 2 scan protocols: Group A (n = 45) with 120 mA tube current and contrast agent of 270 mgI/ml in concentration (Visipaque ™ ; GE Healthcare Ireland, Co., Cork, UK); and Group B (n = 65) with the conventional 160 mA and 370 mgI/ml concentration contrast (Iopamiro ® ; Shanghai Bracco Sine Pharmaceutical Corp Ltd, Shanghai, China). Both groups used 80 kVp tube voltage and were reconstructed with 70% adaptive statistical iterative reconstruction algorithm. The CT value and noise in aortic arch were measured and the signal-to-noise ratio (SNR) and contrast-to-noise ratio (CNR) were calculated. A five-point scale was used to subjectively evaluate image quality. Contrast and radiation dose were recorded. There was no difference in age and weight between the two groups (all p > 0.05). The iodine load and radiation dose in Group A were statistically lower (3976 ± 747 mgI vs 5763 ± 1018 mgI in iodine load and 0.60 ± 0.08 mSv vs 0.77 ± 0.10 mSv in effective dose; p  0.05), and with good agreement between the two observers. Comparing the surgery results, the diagnostic accuracy for extracardiac and intracardiac defects for Group A was 96% and 92%, respectively, while the corresponding numbers for Group B were 95% and 93%. Compared with the standard dose protocol, the use of low tube voltage (80 kVp), low tube current (120 mA) and low-concentration iodinated contrast agent (270 mgI/ml) enables a reduction of 30% in iodine load and 22% in radiation dose while maintaining compatible image quality and diagnostic accuracy. Advances in knowledge: The new cardiac CT scanning protocol can largely reduce the adverse effects of

  20. Neurodevelopmental delay with critical congenital heart disease is mainly from prenatal injury not infant cardiac surgery: current evidence based on a meta-analysis of functional magnetic resonance imaging.

    Science.gov (United States)

    Li, Y; Yin, S; Fang, J; Hua, Y; Wang, C; Mu, D; Zhou, K

    2015-06-01

    No consensus has been reached regarding whether brain injury related to congenital heart disease (CHD) is caused by infant cardiac surgery and/or prenatal injury resulting from the CHD. We performed this meta-analysis to identify the likely cause of neurodevelopmental delay in CHD patients. We carried out a literature search without language restriction in December 2013, retrieving records from PubMed, EMBASE, the Cochrane Library and the World Health Organization trials center, to identify studies applying functional magnetic resonance imaging (fMRI) evaluation of brain function before surgery and, in some cases, after surgery (both immediate term and short term postoperatively). The preoperative and postoperative fMRI results were extracted, and meta-analysis was performed using Revman 5.1.1 and STATA 11.0, according to the guidelines from the Cochrane review and MOOSE groups. The electronic search yielded 937 citations. Full text was retrieved for 15 articles and eight articles (nine studies) were eligible for inclusion: six studies (n = 312 cases) with fMRI analysis before surgery and three (n = 36 cases) with complete perioperative fMRI analysis. The overall average diffusivity of CHD cases was significantly higher than that of controls, with a summarized standard (std) mean difference of 1.39 (95% CI, 0.70-2.08), and the fractional anisotropy was lower in CHD cases, with a summarized mean difference of -1.43 (95% CI, -1.95 to -0.91). N-acetylaspartate (NAA)/choline (Cho) for the whole brain was significantly lower in CHD cases compared with healthy ones, while lactate/Cho was significantly higher in CHD cases. Immediate term postoperatively, significant changes in NAA/creatine and NAA/Cho, relative to preoperative values, were found. However, the difference did not persist at the short-term follow-up. This meta-analysis suggests that the delay in neurological development in newborns with CHD is due mainly to prenatal injury, and cardiac surgery might

  1. Conventional and right-sided screening for subcutaneous ICD in a population with congenital heart disease at high risk of sudden cardiac death.

    Science.gov (United States)

    Alonso, Pau; Osca, Joaquín; Rueda, Joaquín; Cano, Oscar; Pimenta, Pedro; Andres, Ana; Sancho, María José; Martinez, Luis

    2017-11-01

    Information regarding suitability for subcutaneous defibrillator (sICD) implantation in tetralogy of Fallot (ToF) and systemic right ventricle is scarce and needs to be further explored. The main objective of our study was to determine the proportion of patients with ToF and systemic right ventricle eligible for sICD with both, standard and right-sided screening methods. Secondary objectives were: (i) to study sICD eligibility specifically in patients at high risk of sudden cardiac death, (ii) to identify independent predictors for sICD eligibility, and (iii) to compare the proportion of eligible patients in a nonselected ICD population. We recruited 102 patients with ToF, 33 with systemic right ventricle, and 40 consecutive nonselected patients. Conventional electrocardiographic screening was performed as usual. Right-sided alternative screening was studied by positioning the left-arm and right-arm electrodes 1 cm right lateral of the xiphoid midline. The Boston Scientific ECG screening tool was utilized. In high-risk patients with ToF, eligibility was higher with right-sided screening in comparison with standard screening (61% vs. 44%; p = .018). Eligibility in high-risk right ventricle population was identical with both screening methods (77%, p = ns). The only independent predictor for sICD eligibility was QRS duration. In high-risk patients with ToF, right-sided implantation of the sICD could be an alternative to a conventional ICD. In patients with a systemic right ventricle, implantation of a sICD is an alternative to a conventional sICD. © 2017 Wiley Periodicals, Inc.

  2. MR imaging evaluation of congenital spine anomalies

    International Nuclear Information System (INIS)

    Bury, E.A.; Zimmerman, R.A.; Grossman, R.I.; Goldberg, H.I.; Bilaniuk, L.T.; Hackney, D.B.

    1987-01-01

    Over a 2-year period, 135 patients between the ages of 1 week and 18 years were examined with MR imaging for possible congenital anomalies of the spine and spinal cord. Tethered cords with various other associated pathologies such as lipomas and myelomeningoceles were found in 36 patients. The remaining abnormal examinations consisted of syrinxes, Chiari malformations, diastematomyelia, and conus masses. In 55 patients the studies were interpreted as normal. Of these, three were subsequently shown by surgery of myelography to be abnormal. The first had a thickened filum with a small epidermoid, the second a thickened filum, and the third, with only sagittal images, a diastematomyelia. Children presenting with symptoms highly suspicious for congenital abnormalities but with a normal MR study in multiple planes may still require further evaluation with myelography. Multiplanar MR examination in most instances will be a sufficient evaluation for congenital anomalies

  3. Counselling strategies for parents of infants with congenital heart disease.

    Science.gov (United States)

    Menahem, S

    1998-07-01

    Congenital heart disease is a significant cause of morbidity and mortality in the newborn. Its diagnosis may lead to a crisis in the affected families; there are the perceived implications of having an abnormality of so vital an organ. To that may be added the assumed guilt or blame, grief and at times anger, frequently experienced by parents of abnormal infants. It often befalls the paediatric cardiologist to initiate counselling while providing the expert information concerning the abnormality and its optimum management. Such counselling differs from that needed for minor lesions as compared for more complex abnormalities where a fatal outcome may ensure. While it is important to provide an accurate diagnosis and management plan to the parents, early detailed information is often confusing and may not be assimilated at a time of great stress. The parents seem more concerned as to whether the infant will survive, what the long term outlook will be, whether he or she will attend school, play, work and so on. With the more severe cardiac abnormalities, especially where there is a family history, one need be aware of the often perceived guilt of the parents. At times, it may be necessary to help the parents retain sufficient 'self-control', delaying the grieving process to enable them to contribute to the decision making. Where the infant has died, a follow-up appointment can facilitate grieving and help deal with unresolved issues. Through skilled counselling, the cardiologist in addition to his/her diagnostic and management skills, may meaningfully influence the ongoing care of the infant. They may help avoid the development of unrealistic fears or an over-optimistic outlook, thereby fostering the normal development of the child.

  4. Overexpression of Sarcoendoplasmic Reticulum Calcium ATPase 2a Promotes Cardiac Sympathetic Neurotransmission via Abnormal Endoplasmic Reticulum and Mitochondria Ca2+ Regulation

    Science.gov (United States)

    Shanks, Julia; Herring, Neil; Johnson, Errin; Liu, Kun; Li, Dan

    2017-01-01

    Reduced cardiomyocyte excitation–contraction coupling and downregulation of the SERCA2a (sarcoendoplasmic reticulum calcium ATPase 2a) is associated with heart failure. This has led to viral transgene upregulation of SERCA2a in cardiomyocytes as a treatment. We hypothesized that SERCA2a gene therapy expressed under a similar promiscuous cytomegalovirus promoter could also affect the cardiac sympathetic neural axis and promote sympathoexcitation. Stellate neurons were isolated from 90 to 120 g male, Sprague–Dawley, Wistar Kyoto, and spontaneously hypertensive rats. Neurons were infected with Ad-mCherry or Ad-mCherry-hATP2Aa (SERCA2a). Intracellular Ca2+ changes were measured using fura-2AM in response to KCl, caffeine, thapsigargin, and carbonylcyanide-p-trifluoromethoxyphenylhydrazine to mobilize intracellular Ca2+ stores. The effect of SERCA2a on neurotransmitter release was measured using [3H]-norepinephrine overflow from 340 to 360 g Sprague–Dawley rat atria in response to right stellate ganglia stimulation. Upregulation of SERCA2a resulted in greater neurotransmitter release in response to stellate stimulation compared with control (empty: 98.7±20.5 cpm, n=7; SERCA: 186.5±28.41 cpm, n=8; Pneurons, SERCA2a overexpression facilitated greater depolarization-induced Ca2+ transients (empty: 0.64±0.03 au, n=57; SERCA: 0.75±0.03 au, n=68; Pneurons resulted in increased neurotransmission and increased Ca2+ loading into intracellular stores. Whether the increased Ca2+ transient and neurotransmission after SERCA2A overexpression contributes to enhanced sympathoexcitation in heart failure patients remains to be determined. PMID:28223472

  5. Congenital diplopodia

    International Nuclear Information System (INIS)

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

    2003-01-01

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

  6. The value of regional wall motion abnormalities on 99Tcm-MIBI gated cardiac SPECT in predicting angiographic stenoses of coronary artery

    International Nuclear Information System (INIS)

    Li Dianfu; Huang Jun; Zhu Tiebing; Wang Liansheng; Yang Zhijian; Feng Jianlin; Li Jianhua; Chen Jianwei; Chang Guojun

    2004-01-01

    Objective: To determine the magnitude of angiographic stenoses of coronary artery in reversible regional wall motion abnormalities (RWMA) present in exercise stress 99 Tc m -methoxyisobutylisonitrile (MIBI) gated SPECT myocardial perfusion imaging (MPI). Methods: One hundred and sixteen patients undergoing coronary angiography two weeks before and after the exercise stress 99 Tc m -MIBI gated SPECT MPI. Images were acquired 15 to 20 min after stress. A five grades and twenty segments marking system was introduced to assess the RWMA and thickening of left ventricles. Results: The sensitivity of reversible RWMA for detecting ≥75% angiographic stenoses was 65%, with a specificity of 97%. Reversible RWMA has a high positive predictive value (98%) for stratification between severe angiographic stenoses of 75% and non-severe stenoses (less than 75%). Multivariate analysis showed that the post-stress wall motion (SSSWM), exercise wall motion differentiation value (SDSWM) and summed stress score (SSS) were the independent risk factor of coronary artery jeopardy score. Conclusions: Reversible RWMA, as shown by exercise stress 99 Tc m -MIBI gated SPECT MPI, is a significant predictor of angiographic disease with very high specificity and positive predictive values. Exercise reversible RWMA can rise the assessment value of angiographic severity in MPI

  7. Congenital toxoplasmosis.

    Science.gov (United States)

    Kieffer, François; Wallon, Martine

    2013-01-01

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

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

    International Nuclear Information System (INIS)

    Guo Haoxue; Liu Shuyong; Jiang Rutong; Bai Hongcan; Wang Yanwei; Du Yuying; Yang Qiaoji; Qin Yongwen

    2003-01-01

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

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

    Energy Technology Data Exchange (ETDEWEB)

    Haoxue, Guo; Shuyong, Liu; Rutong, Jiang; Hongcan, Bai; Yanwei, Wang; Yuying, Du; Qiaoji, Yang; Yongwen, Qin [Henan Provincial Corps Hospital, Chinese People' s Police Forces, Zhengzhou (China). Dept. of Surgery

    2003-10-01

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

  10. 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.

  11. Congenital heart disease in the dog

    International Nuclear Information System (INIS)

    Matic, S.E.

    1988-01-01

    The clinical findings and investigation of dogs with congenital cardiac disease is described and the role of diagnostic aids including radiography, electrocardiography and echocardiography is outlined. The physical findings, prognosis and therapy of the common defects are reviewed and their aetiology is briefly discussed

  12. The right side in congenital heart disease

    NARCIS (Netherlands)

    Schuuring, M.J.

    2014-01-01

    Life expectancy of children with congenital heart disease (CHD) has increased dramatically during the past years, due to the successes of cardiac surgery. At present, nearly all of these children with CHD can be operated at young age and more than 90% reach adulthood. At adult age, however, many

  13. Pattern and Diagnosis of Congenital Heart Disease in Patients ...

    African Journals Online (AJOL)

    Objective: To study the pattern of Congenital Heart Diseases (CHD) in children referred to Ahmed Gasim Cardiac Center) in Khartoum. Methods: This is a prospective cross-sectional, clinic based study conducted over a six months period. The children were referred to the Cardiac Centre because of suspected heart ...

  14. Common echocardiographic abnormalities in Nigerians of different ...

    African Journals Online (AJOL)

    Nigerian Journal of Clinical Practice ... It can provide comprehensive information about cardiac structure and ... heart disease, hypertensive heart disease and congenital heart diseases as ... Browse By Category · Browse Alphabetically · Browse By Country · List All Titles · Free To Read Titles This Journal is Open Access.

  15. Long term ocular and neurological involvement in severe congenital toxoplasmosis

    NARCIS (Netherlands)

    Meenken, C.; Assies, J.; van Nieuwenhuizen, O.; Holwerda-van der Maat, W. G.; van Schooneveld, M. J.; Delleman, W. J.; Kinds, G.; Rothova, A.

    1995-01-01

    This study was set up to determine the long term ocular and systemic sequelae in patients with severe congenital toxoplasmosis. Cross sectional and retrospective study of 17 patients with severe congenital toxoplasmosis. In addition to chorioretinitis (100%), the most common abnormal ocular features

  16. Agenesis of internal carotid artery associated with congenital anterior hypopituitarism

    International Nuclear Information System (INIS)

    Moon, W.-J.; Porto, L.; Lanfermann, H.; Zanella, F.E.; Weis, R.

    2002-01-01

    We report a rare case of unilateral agenesis of the internal carotid artery in association with congenital anterior hypopituitarism. The collateral circulation is supplied by a transsellar intercavernous anastomotic vessel connecting the internal carotid arteries. These abnormalities are well depicted on MRI and MRA. The agenesis of the internal carotid artery may explain the pathogenesis of some of congenital anterior hypopituitarism. (orig.)

  17. 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.

  18. Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype

    Directory of Open Access Journals (Sweden)

    Nadia Skauli

    2016-11-01

    Full Text Available Biallelic PIGT variants were previously reported in seven patients from three families with Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 (MCAHS3, characterized by epileptic encephalopathy, hypotonia, global developmental delay/intellectual disability, cerebral and cerebellar atrophy, craniofacial dysmorphisms, and skeletal, ophthalmological, cardiac, and genitourinary abnormalities. We report a novel homozygous PIGT missense variant c.1079G>T (p.Gly360Val in two brothers with several of the typical features of MCAHS3, but in addition, pyramidal tract neurological signs. Notably, they are the first patients with MCAHS3 without skeletal, cardiac, or genitourinary anomalies. PIGT encodes a crucial subunit of the glycosylphosphatidylinositol (GPI transamidase complex, which catalyzes the attachment of proteins to GPI-anchors, attaching the proteins to the cell membrane. In vitro studies in cells from the two brothers showed reduced levels of GPI-anchors and GPI-anchored proteins on the cell surface, supporting the pathogenicity of the novel PIGT variant.

  19. Congenital heart defects in children with oral clefts

    Directory of Open Access Journals (Sweden)

    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.

  20. Congenital syphilis

    International Nuclear Information System (INIS)

    Lee, Sang Wook; Kim, Kyung Soo; Hur, Don

    1983-01-01

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

  1. The importance of copy number variation in congenital heart disease

    Science.gov (United States)

    Costain, Gregory; Silversides, Candice K; Bassett, Anne S

    2016-01-01

    Congenital heart disease (CHD) is the most common class of major malformations in humans. The historical association with large chromosomal abnormalities foreshadowed the role of submicroscopic rare copy number variations (CNVs) as important genetic causes of CHD. Recent studies have provided robust evidence for these structural variants as genome-wide contributors to all forms of CHD, including CHD that appears isolated without extra-cardiac features. Overall, a CNV-related molecular diagnosis can be made in up to one in eight patients with CHD. These include de novo and inherited variants at established (chromosome 22q11.2), emerging (chromosome 1q21.1), and novel loci across the genome. Variable expression of rare CNVs provides support for the notion of a genetic spectrum of CHD that crosses traditional anatomic classification boundaries. Clinical genetic testing using genome-wide technologies (e.g., chromosomal microarray analysis) is increasingly employed in prenatal, paediatric and adult settings. CNV discoveries in CHD have translated to changes to clinical management, prognostication and genetic counselling. The convergence of findings at individual gene and at pathway levels is shedding light on the mechanisms that govern human cardiac morphogenesis. These clinical and research advances are helping to inform whole-genome sequencing, the next logical step in delineating the genetic architecture of CHD. PMID:28706735

  2. Abnormalities of the external genitalia and groins among primary ...

    African Journals Online (AJOL)

    Background: Abnormalities of the male external genitalia and groin, a set of lesions which may be congenital or acquired, are rather obscured to .... some have no gross functional or morphological import .... Disorders of the testis, scrotum and.

  3. Long term ocular and neurological involvement in severe congenital toxoplasmosis.

    OpenAIRE

    Meenken, C; Assies, J; van Nieuwenhuizen, O; Holwerda-van der Maat, W G; van Schooneveld, M J; Delleman, W J; Kinds, G; Rothova, A

    1995-01-01

    AIMS--This study was set up to determine the long term ocular and systemic sequelae in patients with severe congenital toxoplasmosis. METHODS--Cross sectional and retrospective study of 17 patients with severe congenital toxoplasmosis. RESULTS--In addition to chorioretinitis (100%), the most common abnormal ocular features were optic nerve atrophy (83%), visual acuity of less than 0.1 (85%), strabismus, and microphthalmos. In 50% of cases we observed iridic abnormalities and about 40% develop...

  4. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Charles Antzelevitch

    2004-04-01

    Full Text Available Long QT intervals in the ECG have long been associated with sudden cardiac death. The congenital long QT syndrome was first described in individuals with structurally normal hearts in 1957.1 Little was known about the significance of a short QT interval. In 1993, after analyzing 6693 consecutive Holter recordings Algra et al concluded that an increased risk of sudden death was present not only in patients with long QT interval, but also in patients with short QT interval (<400 ms.2 Because this was a retrospective analysis, further evaluation of the data was not possible. It was not until 2000 that a short-QT syndrome (SQTS was proposed as a new inherited clinical syndrome by Gussak et al.3 The initial report was of two siblings and their mother all of whom displayed persistently short QT interval. The youngest was a 17 year old female presenting with several episodes of paroxysmal atrial fibrillation requiring electrical cardioversion.3 Her QT interval measured 280 msec at a heart rate of 69. Her 21 year old brother displayed a QT interval of 272 msec at a heart rate of 58, whereas the 51 year old mother showed a QT of 260 msec at a heart rate of 74. The authors also noted similar ECG findings in another unrelated 37 year old patient associated with sudden cardiac death.

  5. Congenital sensorineural hearing loss

    International Nuclear Information System (INIS)

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

    1984-01-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems

  6. Congenital sensorineural hearing loss

    Energy Technology Data Exchange (ETDEWEB)

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

    1984-02-01

    The ears of 47 selected patients with congenital sensorineural hearing loss were examined with complex-motion tomography. The patients were divided into 3 general categories: those with a recognized syndrome, those with sensorineural hearing loss unrelated to any known syndrome, and those with microtia. A great variety of inner ear anomalies was detected, but rarely were these characteristic of a particular clinical entity. The most common finding was the Mondini malformation or one of its variants. Isolated dysplasia of the internal auditory canal or the vestibular aqueduct may be responsible for sensorineural hearing loss in some patients. Patients with microtia may also have severe inner ear abnormalities despite the fact that the outer and inner ears develop embryologically from completely separate systems.

  7. Sudden Cardiac Death in Children. Part 1

    Directory of Open Access Journals (Sweden)

    Ye.V. Pshenichnaya

    2013-02-01

    Full Text Available This article presents the prevalence, terminology, classification of sudden cardiac death. A description of congenital structural heart diseases associated with a risk of sudden cardiac death is given. The issues of etiology and pathogenesis of life-threatening conditions are described in detail.

  8. Congenital long QT syndrome in children

    Directory of Open Access Journals (Sweden)

    Cerović Ivana

    2016-01-01

    Full Text Available Long QT syndrome (LQTS is a cardiac repolarization disorder characterized by prolonged QT interval on the electrocardiogram (ECG and increased propensity to ventricular tachyarrhythmias and cardiac events. LQTS might be acquired or congenital, which presents a group of channelopathies that occur due to mutation in one of 15 so far identified genes. The most frequent types of congenital LTQS are LQT1, LQT2 and LQT3. Prolonged or delayed repolarization leads to the increase of action potential duration which predisposes early afterdepolarization, as well as the amplification of transmural dispersion of repolarization, both contributing to the development of Torsades de Pointes ventricular tachycardia. Clinical manifestations of LQTS are palpitations, syncope, aborted cardiac arrest or sudden cardiac death, but it can also be asymptomatic. Trigger factors for symptoms are specific for certain genotype. LQTS examination includes thorough clinical and family history focused on distinctive data (repeated syncopes, cases of sudden cardiac death in the family, hereditary arrhythmias, resting ECG, exercise stress testing and genetic analysis, with additional methods (serial ECG records, 24h ECG Holter, epinephrine test. Clinical LQTS diagnosis is based on Schwartz's scoring system, while the criteria for final diagnosis of LQTS depend on Schwartz's score, QT interval duration, presence of pathogenic mutation and clinical symptoms. Treatment approach begins with lifestyle modifications and β-blockers therapy, while other options include implantable cardioverter- defibrillator, permanent pacemaker or surgical sympathectomy. Sudden cardiac death is the reason of 90% of sudden deaths in young athletes, while LQTS is one of its causes. Recommendations for physical activities in children with congenital LQTS arise from the ones for adults and they presume very strict limitations. Further researches are expected to advance the understanding of genotype

  9. Abnormal centromere-chromatid apposition (ACCA) and Peters' anomaly.

    Science.gov (United States)

    Wertelecki, W; Dev, V G; Superneau, D W

    1985-08-01

    Abnormal centromere-chromatid apposition (ACCA) was noted in a patient with Peters' anomaly. Previous reports of ACCA emphasized its association with tetraphocomelia and other congenital malformations (Roberts, SC Phocomelia, Pseudothalidomide Syndromes). This report expands the array of congenital malformations associated with ACCA and emphasizes the diagnostic importance of ocular defects for the ascertainment of additional cases of ACCA and its possible relationship with abnormal cell division.

  10. Congenital Left Circumflex Coronary Artery Atresia Detected by 64-Slice Computed Tomography: A Case Report

    Directory of Open Access Journals (Sweden)

    Chen-Yuan Liu

    2007-06-01

    Full Text Available A variety of coronary artery disorders, including intramyocardial coronary segments and coronary artery anomalies, can result in sudden cardiac death, especially in young adults. The detection of structural coronary artery abnormalities is important in the management of patients at risk of sudden cardiac death. Coronary artery anomalies occur in about 1% of the population. Congenital absence of left circumflex coronary artery (LCX is a very rare vascular anomaly, and few cases have been reported in the literature, with a frequency of only 0.003% in all patients who underwent coronary angiography. Although coronary catheterization is the gold standard for the evaluation of coronary arterial patency disease, noninvasive computed tomography (CT is considered the diagnostic method of choice for the detection and evaluation of coronary artery anomaly. Herein, we report the case of a 17-year-old girl who presented with exertional dyspnea and chest pain and who was studied at our emergency department with the final diagnosis of LCX atresia detected by 64-slice CT. She may be the first case of congenital LCX atresia proved by multislice CT.

  11. Cardiac biomarkers in Neonatology

    OpenAIRE

    Vijlbrief, D.C.

    2015-01-01

    In this thesis, the role for cardiac biomarkers in neonatology was investigated. Several clinically relevant results were reported. In term and preterm infants, hypoxia and subsequent adaptation play an important role in cardiac biomarker elevation. The elevated natriuretic peptides are indicative of abnormal function; elevated troponins are suggestive for cardiomyocyte damage. This methodology makes these biomarkers of additional value in the treatment of newborn infants, separate or as a co...

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

    Energy Technology Data Exchange (ETDEWEB)

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

    2015-12-15

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

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

    International Nuclear Information System (INIS)

    Rompel, O.; Janka, R.; May, M.S.; Lell, M.M.; Uder, M.; Hammon, M.; Gloeckler, M.; Dittrich, S.; Cesnjevar, R.

    2015-01-01

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

  14. Case studies of the perceptions of women with high risk congenital heart disease successfully completing a pregnancy.

    Science.gov (United States)

    Ngu, Kylie; Hay, Margaret; Menahem, Samuel

    2014-09-01

    Women even with moderate to severe congenital heart disease (CHD) seek motherhood despite posing significant health risks to themselves and their infant. This study explored their motivations and perceptions and compared them to those of women with low risk CHD who conceived. Twenty women over 18 years with CHD who had a successful pregnancy were recruited, half of whom were identified as having a high risk cardiac abnormality. They completed a questionnaire and a semi-structured interview following which a thematic analysis was employed. Their medical records and clinical status were also reviewed and their current cardiac status graded by their attending cardiologist. Women with high risk (moderate to severe) CHD (n=10) appeared to have similar motivations for conceiving as women with low-risk (mild) CHD (n=10). Their decision to conceive seemed based on their own and at times unrealistic perceptions of the consequences of their CHD. Women with mild or more severe CHD had similar motivations to conceive tending to down play the seriousness of their CHD. Their drive for motherhood appeared to be stronger than the drive for self care. It behoves clinicians, both obstetricians and cardiologists caring for women with high risk CHD to be knowledgeable of the effects of the CHD on the pregnancy and the impact of the pregnancy on the cardiac status. Copyright © 2014 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by Elsevier B.V. All rights reserved.

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

    Science.gov (United States)

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

    2017-08-01

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

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

    Science.gov (United States)

    Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora

    2017-04-01

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

  17. Congenital cystic adenomatoid malformation: case presentation in a two months old infant

    International Nuclear Information System (INIS)

    Aqrabawi, H.E.; Shabatat, M.; Abbadi, B.M.

    2015-01-01

    Congenital cystic adenomatoid malformation (CCAM) is a rare abnormality of lung development; it is increasingly detected by the routine ultrasound scan during pregnancy. The severity of the abnormality is very variable. Herein, we present a case of congenital cystic adenomatoid malformation that presented in a two months old infant who had normal initial chest X rays. (author)

  18. Aborted sudden cardiac death in a young male with anomalous left coronary artery arising from the pulmonary artery

    Directory of Open Access Journals (Sweden)

    Chih-Han Huang

    2017-01-01

    Full Text Available Anomalous left coronary artery arising from the pulmonary artery (ALCAPA is a rare type of congenital coronary abnormality that may be associated with early infant mortality and sudden adult cardiac death. We report a case regarding a 23-year-old male who collapsed during a marathon race and was resuscitated with cardiopulmonary resuscitation. Subsequent workups verified the diagnosis of ALCAPA. The patient underwent surgical intervention with obliteration of the ALCAPA orifice and coronary artery bypass grafting with left internal mammary artery to left anterior descending coronary artery. The procedure was done smoothly, and he was discharged uneventfully.

  19. Congenital Central Hypoventilation Syndrome And Intestinal

    African Journals Online (AJOL)

    Congenital central hypoventilation syndrome (CCHS) or 'Ondine's curse' is characterised by an abnormal ventilatory response to progressive hypercapnia and sustained hypoxaemia. During the neonatal period, most patients with this condition present with hypoventilation or apnoea while asleep. Patients with CCHS may ...

  20. Congenital amusia.

    Science.gov (United States)

    Williamson, Victoria J; Stewart, Lauren

    2013-01-01

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

  1. Prenatal chromosomal microarray analysis in fetuses with congenital heart disease: a prospective cohort study.

    Science.gov (United States)

    Wang, Yan; Cao, Li; Liang, Dong; Meng, Lulu; Wu, Yun; Qiao, Fengchang; Ji, Xiuqing; Luo, Chunyu; Zhang, Jingjing; Xu, Tianhui; Yu, Bin; Wang, Leilei; Wang, Ting; Pan, Qiong; Ma, Dingyuan; Hu, Ping; Xu, Zhengfeng

    2018-02-01

    Currently, chromosomal microarray analysis is considered the first-tier test in pediatric care and prenatal diagnosis. However, the diagnostic yield of chromosomal microarray analysis for prenatal diagnosis of congenital heart disease has not been evaluated based on a large cohort. Our aim was to evaluate the clinical utility of chromosomal microarray as the first-tier test for chromosomal abnormalities in fetuses with congenital heart disease. In this prospective study, 602 prenatal cases of congenital heart disease were investigated using single nucleotide polymorphism array over a 5-year period. Overall, pathogenic chromosomal abnormalities were identified in 125 (20.8%) of 602 prenatal cases of congenital heart disease, with 52.0% of them being numerical chromosomal abnormalities. The detection rates of likely pathogenic copy number variations and variants of uncertain significance were 1.3% and 6.0%, respectively. The detection rate of pathogenic chromosomal abnormalities in congenital heart disease plus additional structural anomalies (48.9% vs 14.3%, P congenital heart disease group. Additionally, the detection rate in congenital heart disease with additional structural anomalies group was significantly higher than that in congenital heart disease with soft markers group (48.9% vs 19.8%, P congenital heart disease with additional structural anomalies and congenital heart disease with intrauterine growth retardation groups (48.9% vs 50.0%), congenital heart disease with soft markers and congenital heart disease with intrauterine growth retardation groups (19.8% vs 50.0%), or congenital heart disease with soft markers and isolated congenital heart disease groups (19.8% vs 14.3%). The detection rate in fetuses with congenital heart disease plus mild ventriculomegaly was significantly higher than in those with other types of soft markers (50.0% vs 15.6%, P congenital heart disease in clinical practice. Copyright © 2017 Elsevier Inc. All rights reserved.

  2. 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

    2017-05-01

    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. Copyright © 2017. Published by Elsevier Masson SAS.

  3. CARDIAC LYMPHOMA IN DOG

    Directory of Open Access Journals (Sweden)

    G. D. Cruz

    2016-11-01

    Full Text Available Lymphoma is a lymphoid tumor that originates in hematopoietic organs such as lymph node, spleen or liver. In dogs, the overall prevalence of cardiac tumors was estimated to be only 0.19% based on the results of the survey of a large database, and lymphomas accounts for approximately 2% of all cardiac tumors. In general, the involvement of the myocardium is rarely described in canine lymphoma. Currently, there is no evidence of a viral association with primary cardiac lymphoma in dogs, but other types of immunosuppression may contribute to abnormal events, such as involvement primary cardiac. The aim of this study was to analyze a case of sudden death of a bitch, SRD, aged 10, who had the final diagnosis of cardiac lymphoma.

  4. Rare association of anophthalmia, complex congenital heart disease and pulmonary hypertension: case report.

    Science.gov (United States)

    Ríos-Méndez, Raúl Enrique; Lozano Chinga, Michell Marola

    2016-10-07

    Clinical congenital anophthalmia is described as the uni- or bilateral absence of the eyeball that might occur in isolation or as part of a syndrome. It has a very low prevalence and its etiology is heterogeneous. Complex congenital cardiac malformations are also rare. The association of congenital anophthalmia and congenital heart disease is rarer still, and the etiology of those associations is not well understood yet. We report the case of a patient who had the very rare association of bilateral anophthalmia, multiple cardiac malformations and severe pulmonary hypertension.

  5. Congenital anomalies in Primorsky region.

    Science.gov (United States)

    Kiku, P; Voronin, S; Golokhvast, K

    2015-01-01

    According to WHO hereditary diseases and congenital malformations contribute significantly to the health of population. Thus, the problems of epidemiology, clinical presentation, diagnosis and treatment of congenital abnormalities are of interest for many researchers [2]. In addition, the dynamic accounting for the incidence of congenital malformations and hereditary diseases allows the researchers to assess the ecological situation in the region [1]. The occurrence of congenital anomalies in the world varies; it depends heavily on how carefully the data is collected [4]. Multifactorial or polygenic diseases develop under the influence of environmental factors in the presence of defective genes. They can constitute up to 90% of all chronic pathology [2-5]. To determine the incidence of congenital anomalies under the influence of environmental factors. The study used the methodology of system evaluation of congenital anomalies incidence in Primorsky region, depending on bio-climatic and environmental conditions. The authors used health statistics for the period from 2000 to 2014, F.12 class for congenital abnormalities in adolescents and children that were compared in geographical and temporal aspects with environmental factors of 33 settlements in Primorsky region. The environment is represented by nature and climate (6 factor modules) and sanitation (7 factor modules) blocks of factors. When formalizing the information database of the environment a specially developed 10-point assessment scale was used. Statistical processing of the information was carried out using Pearson's chi-squared test and multiple regression method from SSPS application program package. The study found that over the 15-year period the level of congenital abnormalities in children increased by 27.5% and in adolescents - by 35.1%, and in 2014 it amounted to 1687.6 and 839.3 per 100 000 people, respectively. The predictive model shows a steady further growth of this pathology. The incidence

  6. Correlation between arterial wall stiffness, N-terminal prohormone of brain natriuretic peptide, functional and structural myocardial abnormalities in patients with type 2 diabetes mellitus and cardiac autonomic neuropathy

    Directory of Open Access Journals (Sweden)

    Viktoriya Aleksandrovna Serhiyenko

    2013-12-01

    Full Text Available Aim. To assess arterial wall stiffness, plasma levels of of N-terminal prohormone of brain natriuretic peptide (NT-proBNP, as well as functional state and structure of the myocardium in patients with type 2 diabetes mellitus (T2DM and cardiac autonomic neuropathy (CAN.Materials and Methods. The study involved a total of 65 patients with T2DM. 12 had no evidence of cardiovascular disease (CVD or CAN, 14 were diagnosed with subclinical stage of CAN, 18 – with functional stage, and 21 – with organic stage. We measured aortic pulse wave velocity (PWV, aortic augmentation index (AIx, brachial artery AIx, ambulatory arterial stiffness index (AASI and plasma levels of NT-proBNP. Clinical examination included ECG, Holter monitoring, ambulatory BP measurement and echocardiography.Results. Patients with isolated T2DM showed a trend for increased vascular wall stiffness. PWV was increased in patients with subclinical stage of CAN. Aortic and brachial AIx, PWV and AASI were elevated in patients with functional stage of CAN, PWV being significantly higher vs. subclinical CAN subgroup. Organic stage was characterized by pathologically increased values of all primary parameters; PWV and AASI were significantly higher compared with other groups. Development and progression of CAN was accompanied by an increase in NT-proBNP plasma levels. Concentration of NT-proBNP was in direct correlation with left ventricular mass (LVM and PWV. PWV and LVM values also directly correlated between themselves.Conclusion. Development and progression of CAN in patients with T2DM is accompanied by an increase in vascular wall stiffness. The elevation of plasma NT-proBNP in patients with T2DM correlates with the development of CAN and is significantly and independently associated with an increase in LVM and PWV. Our data suggests the pathophysiological interconnection between metabolic, functional and structural myocardial abnormalities in patients with T2DM and CAN.

  7. Correlation between arterial wall stiffness, N-terminal prohormone of brain natriuretic peptide, functional and structural myocardial abnormalities in patients with type 2 diabetes mellitus and cardiac autonomic neuropathy

    Directory of Open Access Journals (Sweden)

    Viktoriya Alexandrovna Serhiyenko

    2013-12-01

    Full Text Available Aim. To assess arterial wall stiffness, plasma levels of of N-terminal prohormone of brain natriuretic peptide (NT-proBNP, as well as functional state and structure of the myocardium in patients with type 2 diabetes mellitus (T2DM and cardiac autonomic neuropathy (CAN. Materials and Methods. The study involved a total of 65 patients with T2DM. 12 had no evidence of cardiovascular disease (CVD or CAN, 14 were diagnosed with subclinical stage of CAN, 18 ? with functional stage, and 21 ? with organic stage. We measured aortic pulse wave velocity (PWV, aortic augmentation index (AIx, brachial artery AIx, ambulatory arterial stiffness index (AASI and plasma levels of NT-proBNP. Clinical examination included ECG, Holter monitoring, ambulatory BP measurement and echocardiography. Results.  Patients with isolated T2DM showed a trend for increased vascular wall stiffness. PWV was increased in patients with subclinical stage of CAN. Aortic and brachial AIx, PWV and AASI were elevated in patients with functional stage of CAN, PWV being significantly higher vs. subclinical CAN subgroup. Organic stage was characterized by pathologically increased values of all primary parameters; PWV and AASI were significantly higher compared with other groups. Development and progression of CAN was accompanied by an increase in NT-proBNP plasma levels. Concentration of NT-proBNP was in direct correlation with left ventricular mass (LVM and PWV. PWV and LVM values also directly correlated between themselves. Conclusion. Development and progression of CAN in patients with T2DM is accompanied by an increase in vascular wall stiffness. The elevation of plasma NT-proBNP in patients with T2DM correlates with the development of CAN and is significantly and independently associated with an increase in LVM and PWV. Our data suggests the pathophysiological interconnection between metabolic, functional and structural myocardial abnormalities in patients with T2DM and CAN.

  8. Congenital cholesteatoma of the infratemporal fossa with congenital aural atresia and mastoiditis: a case report

    Directory of Open Access Journals (Sweden)

    Abdel-Aziz Mosaad

    2012-06-01

    Full Text Available Abstract Background Congenital cholesteatoma may be expected in abnormally developed ear, it may cause bony erosion of the middle ear cleft and extend to the infratemporal fossa. We present the first case of congenital cholesteatoma of the infratemporal fossa in a patient with congenital aural atresia that has been complicated with acute mastoiditis. Case presentation A sixteen year old Egyptian male patient presented with congenital cholesteatoma of the infratemporal fossa with congenital aural atresia complicated with acute mastoiditis. Two weeks earlier, the patient suffered pain necessitating hospital admission, magnetic resonance imaging revealed a soft tissue mass in the right infratemporal fossa. On presentation to our institute, Computerized tomography was done as a routine, it proved the diagnosis of mastoiditis, pure tone audiometry showed an air-bone gap of 60 dB. Cortical mastoidectomy was done for treatment of mastoiditis, removal of congenital cholesteatoma was carried out with reconstruction of external auditory canal. Follow-up of the patient for 2 years and 3 months showed a patent, infection free external auditory canal with an air-bone gap has been reduced to 35db. One year after the operation; MRI was done and it showed no residual or recurrent cholesteatoma. Conclusions Congenital cholesteatoma of the infratemporal fossa in cases of congenital aural atresia can be managed safely even if it was associated with mastoiditis. It is an original case report of interest to the speciality of otolaryngology.

  9. Clinical Characteristics of Down Syndrome Children With Congenital Heart Disease in a Developing Country

    Directory of Open Access Journals (Sweden)

    Mottaghi Moghaddam

    2015-11-01

    Full Text Available Background Down syndrome (DS is the most common chromosomal abnormality in newborns and is associated with other congenital malformations and health problems. The features of Down syndrome differ according to ethnicity and geographic region. Objectives The main aim was to assess the clinical characteristics of DS patients in a referral pediatric cardiology department. Patients and Methods In this cross-sectional study, we assessed the clinical characteristics of children with Down syndrome and heart defects in an educational hospital over 11 years (from September 2001 to September 2012 in Iran. All data were collected according to a checklist created by the researchers, which included the clinical information, genetic characteristics, cardiac and non-cardiac co-existing diseases, and parental variables of the children. An independent t-test and a chi-square test were used to compare qualitative variables such as birth weight and age of diagnosis. P < 0.05 was considered statistically significant. Results 100 patients with Down syndrome and congenital heart disease were evaluated; 52 were female (52% and 48 were male (48%. The average birth weight of the subjects was 2745 ± 523 (mean ± SD grams. The mean age of the patients’ mothers was 32 ± 6 years, and the mean age of the patients’ fathers was 36 ± 6 years. Chromosomal analysis was performed for 61 patients, 60 of whom had free trisomy (98.4%, one of whom had translocation (1.6%, and none of whom had a mosaic pattern of chromosomal abnormality. The parents of 33 the patients in this study were consanguineous. All patients had cardiac disorders, but non-cardiac disorder also was recorded in 37 patients (37%. The most common non-cardiac disorder in patients was hypothyroidism, and the second most common was gastrointestinal problems. Conclusions Parents were blood relatives in 33 (33% of the patient cases, which is a very high rate. Therefore, non-random mating is an important issue in

  10. Comorbid Conditions in Neonates With Congenital Heart Disease.

    Science.gov (United States)

    Krishnamurthy, Ganga; Ratner, Veniamin; Bacha, Emile; Aspelund, Gudrun

    2016-08-01

    The objectives of this review are to discuss the pathophysiology, clinical impact and treatment of major noncardiac anomalies, and prematurity in infants with congenital heart disease. MEDLINE and PubMed. Mortality risk is significantly higher in patients with congenital heart disease and associated anomalies compared with those in whom the heart defect occurs in isolation. Although most noncardiac structural anomalies do not require surgery in the neonatal period, several require surgery for survival. Management of such infants poses multiple challenges. Premature infants with congenital heart disease face challenges imposed by their immature organ systems, which are susceptible to injury or altered function by congenital heart disease and abnormal circulatory physiology independent of congenital heart disease. For optimal outcomes in premature infants or in infants with multiple congenital anomalies, a collaborative interdisciplinary approach is necessary.

  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. [Congenital hypothyroidism].

    Science.gov (United States)

    Castilla Peón, María Fernanda

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

  13. Atrial tachyarrhythmia in adult congenital heart disease

    Science.gov (United States)

    Karbassi, Arsha; Nair, Krishnakumar; Harris, Louise; Wald, Rachel M; Roche, S Lucy

    2017-01-01

    The adult congenital heart disease (ACHD) population continues to grow and most cardiologists, emergency room physicians and family doctors will intermittently come into contact with these patients. Oftentimes this may be in the setting of a presentation with atrial tachyarrhythmia; one of the commonest late complications of ACHD and problem with potentially serious implications. Providing appropriate initial care and ongoing management of atrial tachyarrhythmia in ACHD patients requires a degree of specialist knowledge and an awareness of certain key issues. In ACHD, atrial tachyarrhythmia is usually related to the abnormal anatomy of the underlying heart defect and often occurs as a result of surgical scar or a consequence of residual hemodynamic or electrical disturbances. Arrhythmias significantly increase mortality and morbidity in ACHD and are the most frequent reason for ACHD hospitalization. Intra-atrial reentrant tachycardia and atrial fibrillation are the most prevalent type of arrhythmia in this patient group. In hemodynamically unstable patients, urgent cardioversion is required. Acute management of the stable patient includes anticoagulation, rate control, and electrical or pharmacological cardioversion. In ACHD, rhythm control is the preferred management strategy and can often be achieved. However, in the long-term, medication side-effects can prove problematic. Electrophysiology studies and catheter ablation are important treatments modalities and in certain cases, surgical or percutaneous treatment of the underlying cardiac defect has a role. ACHD patients, especially those with complex CHD, are at increased risk of thromboembolic events and anticoagulation is usually required. Female ACHD patients of child bearing age may wish to pursue pregnancies. The risk of atrial arrhythmias is increased during pregnancy and management of atrial tachyarrhythmia during pregnancy needs specific consideration. PMID:28706585

  14. MR imaging in congenital lower limb deformities

    International Nuclear Information System (INIS)

    Laor, T.; Jaramillo, D.; Hoffer, F.A.; Kasser, J.R.

    1996-01-01

    Treatment for children with cogenital deformities of the lower extremities may vary, depending on the state of the unossified skeletal structures and surrounding soft tissues. The purpose of our study was to demonstrate the spectrum of the osteochondral and extrasosseous abnormalities as depicted with MR imaging. We retrospectively reviewed MR examinations of 13 limbs of ten children (aged 1 month-9 years, mean 2.1 years) with longitudinal and transverse deformities of the lower extremities. The lesions imaged were fibular hemimelia (n=5), tibial hemimelia (n=5), and congenital constriction bands (n=3). Each examination was assessed for abnormalities in the osteocartilaginous and extraosseous (articular or periarticular components such as ligaments, tendons, and menisci; the muscles and the arteries) structures. Abnormalities were seen in all patients. Osteocartilaginous abnormalities in the patients with longitudinal deformities included abnormal distal femoral epiphyses, abnormal proximal tribial physes, hypertrophied and dislocated proximal fibular epiphyses, unsuspected fibular and tibial remnants, and absence or coalition of the tarsal bones. No osteocartilaginous abnormalities were seen in the patients with congential constriction bands. Articular abormalities in patients with either form of hemimelia included absent cruciate ligaments and menisci, dislocated or absent cartilaginous patellae, absent patellar tendons, and abnormal collateral ligaments. All but one limb imaged had absent or attenuated muscle groups. Of the nine MR arteriograms performed at the level of the knee, eight were abnormal. The normal popliteal trifurcation was absent or in an abnormal location. We conclude that MR imaging of children with congenital lower extremity deformities shows many osteochondral and extraosseous abnormalities that are not depicted by conventional radiogrpahy. This information can help to plan early surgical intervention and prosthetic rehabilitation. (orig.)

  15. Assessment of cardiac sympathetic nerve integrity with positron emission tomography

    International Nuclear Information System (INIS)

    Raffel, David M.; Wieland, Donald M.

    2001-01-01

    The autonomic nervous system plays a critical role in the regulation of cardiac function. Abnormalities of cardiac innervation have been implicated in the pathophysiology of many heart diseases, including sudden cardiac death and congestive heart failure. In an effort to provide clinicians with the ability to regionally map cardiac innervation, several radiotracers for imaging cardiac sympathetic neurons have been developed. This paper reviews the development of neuronal imaging agents and discusses their emerging role in the noninvasive assessment of cardiac sympathetic innervation

  16. Congenital Short QT Syndrome

    Directory of Open Access Journals (Sweden)

    Lia Crotti

    2010-02-01

    Full Text Available The Short QT Syndrome is a recently described new genetic disorder, characterized by abnormally short QT interval, paroxysmal atrial fibrillation and life threatening ventricular arrhythmias. This autosomal dominant syndrome can afflict infants, children, or young adults; often a remarkable family background of cardiac sudden death is elucidated. At electrophysiological study, short atrial and ventricular refractory periods are found, with atrial fibrillation and polymorphic ventricular tachycardia easily induced by programmed electrical stimulation. Gain of function mutations in three genes encoding K+ channels have been identified, explaining the abbreviated repolarization seen in this condition: KCNH2 for Ikr (SQT1, KCNQ1 for Iks (SQT2 and KCNJ2 for Ik1 (SQT3. The currently suggested therapeutic strategy is an ICD implantation, although many concerns exist for asymptomatic patients, especially in pediatric age. Pharmacological treatment is still under evaluation; quinidine has shown to prolong QT and reduce the inducibility of ventricular arrhythmias, but awaits additional confirmatory clinical data.

  17. Renal anomalies in congenital heart disease

    International Nuclear Information System (INIS)

    Lee, Byung Hee; Kim, In One; Yeon, Kyung Mo; Yoon, Yong Soo

    1987-01-01

    In general, the incidence of urinary tract anomalies in congenital heart disease is higher than that in general population. So authors performed abdominal cineradiography in 1045 infants and children undergoing cineangiographic examinations for congenital heart disease, as a screening method for the detection, the incidence, and the nature of associated urinary tract anomalies. The results were as follows: 1. The incidence of urinary tract anomaly associated with congenital heart disease was 4.1% (<2% in general population). 2. Incidence of urinary tract anomalies was 4.62% in 671 acyanotic heart diseases, 3.20% in 374 cyanotic heart diseases. 3. There was no constant relationship between the type of cardiac anomaly and the type of urinary tract anomaly

  18. Congenital platelet function defects

    Science.gov (United States)

    ... pool disorder; Glanzmann's thrombasthenia; Bernard-Soulier syndrome; Platelet function defects - congenital ... Congenital platelet function defects are bleeding disorders that cause reduced platelet function. Most of the time, people with these disorders have ...

  19. Congenital Heart Information Network

    Science.gov (United States)

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

  20. Congenital heart disease

    Science.gov (United States)

    Congenital heart disease (CHD) is a problem with the heart's structure and function that is present at birth. ... Fraser CD, Kane LC. Congenital heart disease. In: Townsend CM Jr, ... Sabiston Textbook of Surgery: The Biological Basis of Modern ...

  1. Congenital coronary artery fistula

    International Nuclear Information System (INIS)

    Oh, Yeon Hee; Kim, Hong; Zeon, Seoc Kil; Suh, Soo Jhi

    1986-01-01

    Congenital coronary artery fistula (CCAF) is communication of a coronary artery or its main branch with one of the atria or ventricles, the coronary sinus, the superior vena cava, or the pulmonary artery. In Korean peoples, only 4 cases of the CCAF were reported as rare as worldwide and authors want to report another case of CCAF, confirmed by operation. 10-year-old girl shows a fistula between sinus node artery of the right coronary artery and right atrium on root aortogram with left-to-right shunt and Qp/Qs=1.58, in which simple ligation of the sinus node artery from right coronary artery was performed. All of the 5 Korean CCAF (4 were previously reported and 1 of authors) were originated from right coronary artery, and of which 4 were opening into right ventricle and 1 of authors were into right atrium. Associated cardiac anomaly was noted in only 1 case as single coronary artery. Ages were from 9 months of age to 10 years old and no adult left case were found. 3 were female and 2 were male patients.

  2. Congenital pulmonary lymphangiectasia

    Directory of Open Access Journals (Sweden)

    Campisi Corradino

    2006-10-01

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

  3. Congenital nephrotic syndrome. Gallium-67 imaging

    International Nuclear Information System (INIS)

    Trepashko, D.W.; Gelfand, M.J.; Pan, C.C.

    1988-01-01

    Congenital nephrotic syndrome is a rare disorder. Heavy proteinuria, hypoalbuminemia, and edema occur during the first 3 months of life. Initial cases were reported from Finland and sporadic cases have occurred elsewhere. Finnish cases demonstrated an autosomal recessive inheritance pattern; currently, Finnish and non-Finnish types are recognized. The clinical course consists of failure to thrive, frequent infections, declining renal function, and early death by age 4 years from sepsis or uremia. Recently renal transplantation has improved the prognosis of patients with this disease. An abnormal Ga-67 scan in a case of congenital nephrotic syndrome is presented

  4. Incremental value of PET and MRI in the evaluation of cardiovascular abnormalities.

    Science.gov (United States)

    Chalian, Hamid; O'Donnell, James K; Bolen, Michael; Rajiah, Prabhakar

    2016-08-01

    The cardiovascular system is affected by a wide range of pathological processes, including neoplastic, inflammatory, ischemic, and congenital aetiology. Magnetic resonance imaging (MRI) and positron emission tomography (PET) are state-of-the-art imaging modalities used in the evaluation of these cardiovascular disorders. MRI has good spatial and temporal resolutions, tissue characterization and multi-planar imaging/reconstruction capabilities, which makes it useful in the evaluation of cardiac morphology, ventricular and valvar function, disease characterization, and evaluation of myocardial viability. FDG-PET provides valuable information on the metabolic activity of the cardiovascular diseases, including ischemia, inflammation, and neoplasm. MRI and FDG-PET can provide complementary information on the evaluation of several cardiovascular disorders. For example, in cardiac masses, FDG-PET provides the metabolic information for indeterminate cardiac masses. MRI can be used for localizing and characterizing abnormal hypermetabolic foci identified incidentally on PET scan and also for local staging. A recent advance in imaging technology has been the development of integrated PET/MRI systems that utilize the advantages of PET and MRI in a single examination. The goal of this manuscript is to provide a comprehensive review on the incremental value of PET and MRI in the evaluation of cardiovascular diseases. • MRI has good spatial and temporal resolutions, tissue characterization, and multi-planar reconstruction • FDG-PET provides valuable information on the metabolic activity of cardiovascular disorders • PET and MRI provide complementary information on the evaluation of cardiovascular disorders.

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

    International Nuclear Information System (INIS)

    Fayyaz, A.; Ahmed, W.

    2013-01-01

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

  6. Congenital Heart Defects and Coronary Anatomy

    OpenAIRE

    Mawson, John B.

    2002-01-01

    Coronary artery anomalies are a well recognized feature of many cardiac malformations and have been catalogued in a number of reviews. This overview concentrates on 1) the interplay between congenital heart defects and coronary morphogenesis, examining how some of the embryology fits with the experiments of nature encountered in clinical practice; and 2) the influence of coronary anatomy on patient management. This overview uses, as examples, pulmonary atresia with intact ventricular septum, ...

  7. Prevention of congenital defects induced by prenatal alcohol exposure (Conference Presentation)

    Science.gov (United States)

    Sheehan, Megan M.; Karunamuni, Ganga; Pedersen, Cameron J.; Gu, Shi; Doughman, Yong Qiu; Jenkins, Michael W.; Watanabe, Michiko; Rollins, Andrew M.

    2017-02-01

    Over 500,000 women per year in the United States drink during pregnancy, and 1 in 5 of this population also binge drink. Up to 40% of live-born children with prenatal alcohol exposure (PAE) present with congenital heart defects (CHDs) including life-threatening outflow and valvuloseptal anomalies. Previously we established a PAE model in the avian embryo and used optical coherence tomography (OCT) imaging to assay looping-stage (early) cardiac function/structure and septation-stage (late) cardiac defects. Early-stage ethanol-exposed embryos had smaller cardiac cushions (valve precursors) and increased retrograde flow, while late-stage embryos presented with gross head/body defects, and exhibited smaller atrio-ventricular (AV) valves, interventricular septae, and aortic vessels. However, supplementation with the methyl donor betaine reduced gross defects, prevented cardiac defects such as ventricular septal defects and abnormal AV valves, and normalized cardiac parameters. Immunofluorescent staining for 5-methylcytosine in transverse embryo sections also revealed that DNA methylation levels were reduced by ethanol but normalized by co-administration of betaine. Furthermore, supplementation with folate, another methyl donor, in the PAE model appeared to normalize retrograde flow levels which are typically elevated by ethanol exposure. Studies are underway to correlate retrograde flow numbers for folate with associated cushion volumes. Finally, preliminary findings have revealed that glutathione, a key endogenous antioxidant which also regulates methyl group donation, is particularly effective in improving alcohol-impacted survival and gross defect rates. Current investigations will determine whether glutathione has any positive effect on PAE-related CHDs. Our studies could have significant implications for public health, especially related to prenatal nutrition recommendations.

  8. Congenital Intrahepatic Portosystemic Shunts

    Energy Technology Data Exchange (ETDEWEB)

    Lee, Woong Hee; Kim, Young Tong; Jou, Sung Shick; Shin, Hyeong Cheol [Soonchunhyang University, Asan (Korea, Republic of)

    2008-12-15

    Intrahepatic portosystemic shunts are an anomalous connection between the portal vein and hepatic vein/IVC, which may be either congenital or acquired secondary to liver cirrhosis or portal hypertension. Cases of congenital intrahepatic shunts are usually encountered in children and may spontaneously resolve. We report 5 cases of congenital intrahepatic portosystemic shunts in neonates and an adult

  9. The incidence of congenital heart disease: Previous findings and perspectives

    Directory of Open Access Journals (Sweden)

    Miranović Vesna

    2014-01-01

    Full Text Available Congenital heart defects (CHD are the most common of all congenital anomalies, and represent a significant global health problem. Involvement of medical professionals of different profiles has led to drastic changes in survival and quality of life of children with CHD. The motivation for the implementation of the first large population studies on this subject was not only to obtain answers to the question on the level of incidence of CHD, but the harmonization of criteria and protocols for monitoring and treatment of certain defects as well as the planning of medical staff dealing with children with CHD. Data on the incidence varies from 4-10/1000 live births. Fetal echocardiography can have potential impact on decrease of CHD incidence. The increase in inci