Numerous preparations of the circulatory system of Sepia officinalis L. caught from the Bay of Arcachon (Atlantic Coast of France) in 1989 and 1996 showed an obvious congenital malformation of the systemic heart complex. The malformation consisted of a cord- or truncus-like structure at the left cranio-apical ventricle.
M.W. Wessels (Marja)
markdownabstract__Abstract__ Congenital heart malformations (CHM) are among the most common congenital defects, occurring in 8 out of 1000 live-births. In the past decade significant progress has been made in the identification of genes implicated in the signaling pathways involved in
Jonker, Jara E.; Liem, Eryn T.; Elzenga, Nynke J.; Molenbuur, Bouwe; Trzpis, Monika; Broens, Paul M. A.
Objective 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. Study design We included 129 patients with CARM born between 2004 and 2013, and
Aura Manuela David
Full Text Available : During 1998 – 2003 it has been realized a study on a lot of 27,623 subjects represented by children from Bacu county. There were found 128 cases of congenital malformations of the heart, from which 82 cases are coming from the rural environment. The cases of congenital malformations of the heart are found more at boys (45 than at girls (37. The children found with congenital malformations of the heart are of different ages as following: 0-1 year – 55 cases, 1-3 years – 13 cases, 3-5 years – 3 cases, 5-7 years – 3 cases, 7-10 years – 3 cases and over 10 years – 6 cases. From the cases found in the rural environment, 18 deceases have been registered (14 boys and 4 girls who were under 1 year old. The most frequent congenital malformations of the heart found and confirmed are defects of auricular and ventricular septum, the transposition of the great blood vessels, the auricular and ventricular hypoplasia, coarctation of aorta, the congenital aortic insufficiency, the tetralogy of Fallot, hypoplasic aortic stenosis, the persistence of Botall orifice and the heart’s position right part of the body. A number of 16 children have benefited of surgical treatment of reparation in special clinics from Iai, Bucureti and Târgu Mure.
Full Text Available Embryonic heart formation results from a dynamic interplay between genetic and environmental factors. Blood flow during early embryonic stages plays a critical role in heart development, as interactions between flow and cardiac tissues generate biomechanical forces that modulate cardiac growth and remodeling. Normal hemodynamic conditions are essential for proper cardiac development, while altered blood flow induced by surgical manipulations in animal models result in heart defects similar to those seen in humans with congenital heart disease. This review compares the altered hemodynamics, changes in tissue properties, and cardiac defects reported after common surgical interventions that alter hemodynamics in the early chick embryo, and shows that interventions produce a wide spectrum of cardiac defects. Vitelline vein ligation and left atrial ligation decrease blood pressure and flow; and outflow tract banding increases blood pressure and flow velocities. These three surgical interventions result in many of the same cardiac defects, which indicate that the altered hemodynamics interfere with common looping, septation and valve formation processes that occur after intervention and that shape the four-chambered heart. While many similar defects develop after the interventions, the varying degrees of hemodynamic load alteration among the three interventions also result in varying incidence and severity of cardiac defects, indicating that the hemodynamic modulation of cardiac developmental processes is strongly dependent on hemodynamic load.
Wijesekera, N T; Padley, S P; Kazmi, F; Davies, C L; McCall, J M
Uterine arteriovenous malformation (AVM) is a rare cause of vaginal bleeding and miscarriage. We report two cases of uterine AVMs in patients with a history of complex congenital heart disease, an association that has not been previously described. Both patients were treated by selective uterine artery embolization, a minimally invasive therapy that has revolutionized the management of uterine AVMs, thus offering an alternative to conventional hysterectomy.
Rönning, Helén; Nielsen, Niels Erik; Swahn, Eva; Strömberg, Anna
Various programmes for adults with congenitally malformed hearts have been developed, but detailed descriptions of content, rationale and goals are often missing. The aim of this study was to describe and make an initial evaluation of a follow-up model for adults with congenitally malformed hearts, focusing on education and psychosocial support by a multidisciplinary team (EPS). The model is described in steps and evaluated with regards to perceptions of knowledge, anxiety and satisfaction. The EPS model included a policlinic visit to the physician/nurse (medical consultation, computer-based and individual education face-to-face as well as psychosocial support) and a 1-month telephone follow-up. Fifty-five adults (mean age 34, 29 women) with the nine most common forms of congenitally malformed hearts participated in the EPS model as well as the 3-months follow-up. Knowledge about congenital heart malformation had increased in 40% of the participants at the 3-months follow-up. This study describes and evaluates a model that combines a multidisciplinary approach and computer-based education for follow-up of adults with congenitally malformed hearts. The EPS model was found to increase self-estimated knowledge, but further evaluations need to be conducted to prove patient-centred outcomes over time. The model is now ready to be implemented in adults with congenitally malformed hearts. Copyright © 2010 Elsevier Ireland Ltd. All rights reserved.
Schipp, R.; von Boletzky, S.; Jakobs, P.; Labourg, P. J.
In semi-adult Sepia officinalis L. (Cephalopoda) from the Bay of Arcachon (France) a congenital malformation of the systemic heart is described by macro-and microscopical methods. It concerns an atypical doubling of the site of insertion at the cephalic aorta at the apical ventricle. Its comparison with the paired anlagen of the systemic heart complex in normal embryogenesis and the central circulatory system of Nautilus gives rise to interpret it as a form of atavism. The possible causal role of mutagenic antifoulings is discussed.
BACKGROUND: Congenital heart diseases are commonly associated with other extra cardiac congenital malformations. OBJECTIVE: To identify congenital heart diseases associated with identified syndromes and other extra cardiac congenital malformations in children in our hospital. METHODS: A prospective descriptive ...
Full Text Available Goal: In a study of 10 autopsy cases with congenital cardiac malformations we investigated whether obtaining a second opinion by means of telepathology could satisfy quality standards for the diagnosis of cardiac malformations and what the advantages and disadvantages of such a procedure might be. Material: The investigatory samples were 10 formalin‐fixed hearts with complex malformations from 9 fetuses and one newborn on which autopsies had been performed at the Pathological Institute of the Charité Hospital. The requests for a second opinion, which included text and image data, were sent in the form of Microsoft PowerPoint presentations to 5 experts in 4 countries. Per case the number of images that were sent was between 3 and 7. The size of the files was between 439 and 942 kb. The time required for preparation of the cases for sending them to the specialists was between 1 and 2 hours: this encompassed the time for putting the notation on the images, compressing them, creating a file that included both the images and the clinical data and then sending the case file. Results: All 10 cardiac malformations were correctly identified. In 8 of the 10 cases at least one expert had questions. After these questions had been answered and further images had been sent final correct diagnoses were made in all cases. All experts said that the quality of the images was very good. Use of a standardized findings questionnaire, which also included the marking of anatomic structures and of pathological findings in the images, proved useful. Standardized findings forms facilitate orientation during interpretation of the cases and should be used generally to avoid misunderstandings in telepathological communication. Conclusions: In general it is possible to obtain an effective and reliable diagnosis of congenital heart malformations by means of telepathology. It is far quicker to get a second opinion by this means than by conventional means.
Horsthuis, Thomas; Christoffels, Vincent M.; Anderson, Robert H.; Moorman, Antoon F. M.
Congenital cardiac malformations account for one-quarter of all human congenital abnormalities. They are caused by environmental and genetic factors. Despite increasing efforts in fundamental research, as yet, the morphogenesis of only a limited number of malformations has been elucidated. Over the
Garne, Ester; Dolk, Helen; Krägeloh-Mann, Inge
AIM: To determine the proportion of children with cerebral palsy (CP) who have cerebral and non-cerebral congenital malformations. METHODS: Data from 11 CP registries contributing to the European Cerebral Palsy Database (SCPE), for children born in the period 1976-1996. The malformations were...... classified as recognized syndromes, chromosomal anomalies, cerebral malformations or non-cerebral malformations. Prevalence of malformations was compared to published data on livebirths from a European database of congenital malformations (EUROCAT). RESULTS: Overall 547 out of 4584 children (11.9%) with CP...... were reported to have a congenital malformation. The majority (8.6% of all children) were diagnosed with a cerebral malformation. The most frequent types of cerebral malformations were microcephaly and hydrocephaly. Non-cerebral malformations were present in 97 CP children and in further 14 CP children...
Stevens, Cathy A.; Lachman, Ralph S.
We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles, dumbbell femurs, and absence of talus and calcaneus ossification. Other clinical features include Dandy-Walker malformation, congenital heart defects, joint contractures, genital hypoplasia, and distinctive facial features. These sibs appear to have a previously undescribed skeletal dysplasia, which is most likely inherited in an autosomal recessive fashion. PMID:20602491
Martin, Jeff; Shekerdemian, Lara S
Mixed venous saturation of oxygen has for some time been used as a tool to assess the adequacy of systemic delivery of oxygen in intensive care. In the post-operative child with cardiac disease, it is increasingly being used to assess adequacy of cardiac output. In many of these patients, true sampling of mixed venous saturation of oxygen is not possible due to the infrequent use of pulmonary arterial catheters, or the presence of intra-cardiac left to right shunting leading to mixing of systemic and pulmonary venous blood. The use of saturation of oxygen in the central venous blood as a surrogate for mixed venous saturation of oxygen has been widely investigated in adults, but its use remains controversial. In this review, we discuss the theory behind the use of mixed venous saturation of oxygen in evaluating cardiac output, the problems pertinent to those patients with congenitally malformed hearts, and explore the evidence for central venous saturation of oxygen as a surrogate for mixed venous saturation of oxygen, and its use as a therapeutic target to improve outcomes in this population of patients.
Akhavan Karbasi Sedighah
Full Text Available Congenital malformation (CM will begin to emerge as one of the major childhood health problems .Treatment and rehabilitation of children with congenital malformations are costly and complete recovery is usually impossible. The aim of this study was to determine frequency of CM in Yazd central city of the Islamic Republic of Iran to find out if there has been any difference in the rate and types of CM in this area. This descriptive-observational study carried on 4800 births delivered at all maternity hospitals in Yazd from October 2003 to June 2004. Prevalence of CM was 2.83% (2.86 % in male and 2.68 % in female out of the 136 cases 69(51.88% were males and 64 (48.12% were females and 3 with ambiguous genitalia. Positive family history of CM in sibling was in only 6 cases (4.41%.Overall, musculoskeletal (0.83%, central nerv-ous system (0.47% and genital system (0.37% were accounted as the most common. Frequency of CM was more seen in still birth (12.5% as in comparison to live birth (2.71%. There was not statistical difference be-tween prevalence of CM and neonatal's gender, gestational age, birth order and mother's age, drug ingestion, illness and parental consanguinity. In this study the overall prevalence of congenital malformation among the newborn was higher than those previous reported in Iran and determining the causes of this difference needs more extensive studies.
Full Text Available BACKGROUND: A high incidence of orofacial clefts is reported in China, but no data has shown the relation between cleft types and the incidence of other defects so far. The aim of this study is to assess the incidence of congenital heart diseases and other organic defects associated with different types of orofacial clefts. METHODOLOGY AND PRINCIPAL FINDINGS: All children with orofacial clefts, which were sought out from the Health Information System of Shanghai Ninth People's Hospital between 1(st Jan 2009 and 30(th Dec 2011, were enrolled in this study. All subjects underwent a thorough examination and grouped by the cleft phenotype. The numbers and types of other organic defects were recorded and analyzed statistically using SPSS 17.0. Of 2180 cases reported as having orofacial clefts, 657 (30.1% had other congenital abnormalities, which were significantly more common in cleft palate (47.9% (329/687 than that in cleft lip (10.6% (80/755 or cleft lip and palate (33.6% (248/738 (P<0.01. In subgroups, unilateral cleft lip and palate had a statistically higher incidence of associated abnormalities than bilateral cleft lip and palate (P<0.01. The most common malformation was congenital heart disease, which counted 45.1% (296/657 of all malformations. Disorders of the central nervous system (14.3%(94/657 and Skeletal anomalies (13.1%(86/657 were also frequently associated. Additionally, the most common defect in heart was atrial septal defect, which was 39.7% (118/296 of all congenital heart diseases. CONCLUSIONS AND SIGNIFICANCE: As the high incidence of heart defects and other organic abnormalities in the children with cleft palate in Eastern China, special attention should be paid to them and echocardiography should be a proposed examination in the evaluation of children with cleft palate before any surgical correction being executed.
Sun, Ting; Tian, Hua; Wang, Changqian; Yin, Ping; Zhu, Yaqin; Chen, Xianghua; Tang, Zhengde
A high incidence of orofacial clefts is reported in China, but no data has shown the relation between cleft types and the incidence of other defects so far. The aim of this study is to assess the incidence of congenital heart diseases and other organic defects associated with different types of orofacial clefts. All children with orofacial clefts, which were sought out from the Health Information System of Shanghai Ninth People's Hospital between 1(st) Jan 2009 and 30(th) Dec 2011, were enrolled in this study. All subjects underwent a thorough examination and grouped by the cleft phenotype. The numbers and types of other organic defects were recorded and analyzed statistically using SPSS 17.0. Of 2180 cases reported as having orofacial clefts, 657 (30.1%) had other congenital abnormalities, which were significantly more common in cleft palate (47.9% (329/687)) than that in cleft lip (10.6% (80/755)) or cleft lip and palate (33.6% (248/738)) (Pcongenital heart disease, which counted 45.1% (296/657) of all malformations. Disorders of the central nervous system (14.3%(94/657)) and Skeletal anomalies (13.1%(86/657)) were also frequently associated. Additionally, the most common defect in heart was atrial septal defect, which was 39.7% (118/296) of all congenital heart diseases. As the high incidence of heart defects and other organic abnormalities in the children with cleft palate in Eastern China, special attention should be paid to them and echocardiography should be a proposed examination in the evaluation of children with cleft palate before any surgical correction being executed.
Adachi, Iki; Morales, David S. L.
In patients with end-stage heart failure (HF), a total artificial heart (TAH) may be implanted as a bridge to cardiac transplant. However, in congenital heart disease (CHD), the malformed heart presents a challenge to TAH implantation.
Azamian, Mahshid; Lalani, Seema R
Congenital cardiovascular malformations are the most common birth defects, with a complex multifactorial etiology. Genetic factors play an important role, illuminated by numerous cytogenetically visible abnormalities, as well as submicroscopic genomic imbalances affecting critical genomic regions in the affected individuals. Study of rare families with Mendelian forms, as well as emerging next-generation sequencing technologies have uncovered a multitude of genes relevant for human congenital cardiac diseases. It is clear that the complex embryology of human cardiac development, with an orchestrated interplay of transcription factors, chromatin regulators, and signal transduction pathway molecules can be easily perturbed by genomic imbalances affecting dosage-sensitive regions. This review focuses on chromosomal abnormalities contributing to congenital heart diseases and underscores several genomic disorders linked to human cardiac malformations in the last few decades.
Ştefan I. ŢIGAN
Full Text Available Introduction: Congenital anomalies represent a significant cause of premature birth, of child morbidity and mortality. From 200000 new born per year, over 10000 presented malformations. Epidemiologic studies have shown that the incidence of malformations is increasing and varies upon geographic features, race and gender. Perinatal mortality is generated in 66.66% of cases by congenital malformations, illnesses from perinatal period and the rest of them is generated by the birth. Material and Method: The study was retrospective and was carried on for a period of five years (2003-2007 based on medical records and on laboratory results, (especially those for TORCH screening: toxoplasmosis, rubella, cytomegalovirus, and herpes virus. Results: Major structural anomalies were present at 39.51% (388 cases of 982 patients which were registered in Genetic Pathology Center from Pediatric Clinics I, Cluj-Napoca. Diagnosed abnormalities included: congenital malformations of circulatory, respiratory, digestive, central nervous system, congenital malformations of skeletal system, Down syndrome, which is consistent with results of other studies showing that the most common are heart abnormalities (33.06%, followed in descending order of frequency by urinary, genital, CNS, skin, oral-facial cleft and digestive anomalies. Conclusions: Early detection of major malformation during early pregnancy can indicate for medical termination of pregnancy to reduce the high morbidity and mortality of neonates due to congenital malformations. So proper and timely counselling, regular antenatal care with folate supplementation especially during the most sensitive period of embryogenesis is essential to avoid major congenital malformation for future pregnancy.
Available literature suggests that congenital malformations are a major cause of prenatal infant deaths and postnatal physical defects [1, 2]. Therefore, a study was conducted to determine the patterns and incidence of congenital malformations at birth in newborns in Kenya and thereby analyze associated predisposing ...
Al-Hadidy, A.; Haroun, A.; Al-Ryalat, N. [Jordan University Hospital, Radiology Department, P.O. Box 340621, Amman (Jordan); Hamamy, H. [Endocrinology and Genetics, National Center for Diabetes, Amman (Jordan); Al-Hadidi, S. [Jordan University Hospital, Departments of Orthopedics, Amman (Jordan)
Congenital pseudoarthrosis is a pathologic entity that may be isolated, or may be associated with neurofibromatosis. We report the case of a 3-year-old female with congenital pseudoarthrosis involving the right tibia and fibula. Magnetic resonance imaging (MRI) and complementary magnetic resonance angiogram (MRA) revealed a lobulated mass with vivid enhancement, which led to the diagnosis of venous malformation. This is the first report of congenital pseudoarthrosis caused by the presence of a vascular malformation. (orig.)
Christina S Chao
Full Text Available Patients with pancreatic agenesis are born without a pancreas, causing permanent neonatal diabetes and pancreatic enzyme insufficiency. These patients require insulin and enzyme replacement therapy to survive, grow, and maintain normal blood glucose levels. Pancreatic agenesis is an uncommon condition but high-throughput sequencing methods provide a rare opportunity to identify critical genes that are necessary for human pancreas development. Here we present the clinical history, evaluation, and the genetic and molecular analysis from two patients with pancreatic agenesis. Both patients were born with intrauterine growth restriction, minor heart defects and neonatal diabetes. In both cases, pancreatic agenesis was confirmed by imaging studies. The patients are clinically stable with pancreatic enzymes and insulin therapy. In order identify the etiology for their disease, we performed whole exome sequencing on both patients. For each proband we identified a de novo heterozygous mutation in the GATA6 gene. GATA6 is a homeobox containing transcription factor involved in both early development of the pancreas and heart. In vitro functional analysis of one of the variants revealed that the mutation creates a premature stop codon in the coding sequence resulting in the production of a truncated protein with loss of activity. These results show how genetic mutations in GATA6 may lead to functional inactivity and pancreatic agenesis in humans.
L. Yu. Barycheva
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.
Yu, Guoping; Mao, Liangyuan; Chen, Shaozhi
To analyze the clinical feature of early newborn infants with congenital heart disease. We retrospectively analyzed the clinical features of 477 newborn infants with congenital heart disease born within seven days out of 28 050 live births in Shaoxing women and children hospital from October 1, 2009 to September 30, 2012. Infants with congenital heart disease were divided into single malformation group (240 cases), composite deformity group (199 cases) and multiple malformations group (38 cases). Differences of clinical feature were compared between the three groups. Atrial septal defect was the most malformation 91.6% (437/477) .Incidence of preterm birth was higher in newborn inants with congenital heart disease [512.23/10 000(134/2 616)] than infants without without congenital heart disease [134.86/10 000 (343/25 434) , P congenital heart disease groups was similar (P > 0.05) . The incidence of small for gestational age in congenital heart disease group (10.90%, 52/477) was also significantly higher than those without congenital heart disease group (5.91%, 1 630/27 573, P congenital heart disease of complex malformations, multiple malformations groups was higher than that in the single malformation group (P congenital heart disease. The incidence of preterm is higher in newborn infants with congenital heart disease. Complex and multiple malformations are linked with small for gestational age birth weight.
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Sun, Ting; Tian, Hua; Wang, Changqian; Yin, Ping; Zhu, Yaqin; Chen, Xianghua; Tang, Zhengde
BACKGROUND: A high incidence of orofacial clefts is reported in China, but no data has shown the relation between cleft types and the incidence of other defects so far. The aim of this study is to assess the incidence of congenital heart diseases and other organic defects associated with different types of orofacial clefts. METHODOLOGY AND PRINCIPAL FINDINGS: All children with orofacial clefts, which were sought out from the Health Information System of Shanghai Ninth People's Hospital betwee...
Serra-Juhé, Clara; Cuscó, Ivon; Homs, Aïda; Flores, Raquel; Torán, Núria; Pérez-Jurado, Luis A
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.
М. О. Makarova
Congenital gastrointestinal (GI) malformations make up 21–25 % of all congenital anomalies and require surgical correction in the neonatal period. The aim was to analyze the methods of operative treatment of hard composite congenital gastrointestinal malformations in infants. Materials and Methods: There were 13 newborns with gastroschisis, omphalocele and esophageal atresia combined with intestinal atresia, anal atresia and also with congenital heart defects in our study. Results...
French, V.M.; Laar, I.M. van de; Wessels, M.W.; Rohe, C.; Roos-Hesselink, J.W.; Wang, G.; Frohn-Mulder, I.M.; Severijnen, L.A.; Graaf, B.M. de; Schot, R.; Breedveld, G.; Mientjes, E.; Tienhoven, M. van; Jadot, E.; Jiang, Z.; Verkerk, A.; Swagemakers, S.; Venselaar, H.; Rahimi, Z.; Najmabadi, H.; Meijers-Heijboer, H.; Graaff, E. de; Helbing, W.A.; Willemsen, R.; Devriendt, K.; Belmont, J.W.; Oostra, B.A.; Amack, J.D.; Bertoli-Avella, A.M.
RATIONALE: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. OBJECTIVE: To identify genetic
V.M. French (Vanessa); I.M.B.H. van de Laar (Ingrid); M.W. Wessels (Marja); C.F. Rohe; J.W. Roos-Hesselink (Jolien); G. Wang (Guangliang); I.M.E. Frohn-Mulder (Ingrid); E.A.W.F.M. Severijnen (Lies-Anne); B.M. de Graaf (Bianca); R. Schot (Rachel); G.J. Breedveld (Guido); E.J. Mientjes (Edwin); M. van Tienhoven (Marianne); E. Jadot (Elodie); Z. Jiang (Zhengxin); A. Verkerk; S.M.A. Swagemakers (Sigrid); H. Venselaar (Hanka); Z. Rahimi (Zohreh); H. Najmabadi (Hossein); E.J. Meijers-Heijboer (Hanne); E. de Graaff (Esther); W.A. Helbing (Willem); R. Willemsen (Rob); K. Devriendt (Koenraad); J.W. Belmont (John); B.A. Oostra (Ben); J.D. Amack (Jeffrey); A.M. Bertoli Avella (Aida)
textabstractRationale: Congenital heart malformations are a major cause of morbidity and mortality, especially in young children. Failure to establish normal left-right (L-R) asymmetry often results in cardiovascular malformations and other laterality defects of visceral organs. Objective: To
This review brings clear evidence of a link between the young maternal age and the higher incidence of complications recorded, both during pregnancy and during labor. It was found that pregnancy in very young age was associated with increased risk of fetal abnormalities affecting the central nervous system, gastrointestinal and muscles-skeletal system. The anomalies of the central nervous system were most commonly found. They were not severe. A higher incidence of birth of babies with neural tube defects or congenital heart diseases was registered. The reasons for the observed anomalies in early pregnancy remain unclear. There is insufficient information about the link between congenital anomalies and use of tobacco or alcohol use by very young mothers. Some correlations were registered between risk factors such as body mass index before pregnancy, the folic acid and other multivitamin needs before and during pregnancy, as well as social factors such as lack of support, isolation from peers and/or family, financial pressures, social attitudes, etc.
Serra-Juh?, Clara; Cusc?, Ivon; Homs, A?da; Flores, Raquel; Tor?n, N?ria; P?rez-Jurado, Luis A
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 methylat...
Nahvi H.; Mollaeian M; Kazemian F; Hoseinpoor M; Keiani A; Khatami F; Khorgami Z; Goodarzi M; Ebrahim Soltani A; ahmadi J.
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 referre...
Background: Congenital malformation(s) do occur in newborns and are thought to be often responsible for a significant proportion of perinatal morbidity and mortality worldwide. Objective: This prospective study was designed to determine the pattern and outcome of congenital malformation(s) among newborn deliveries ...
Congenital cystic adenomatoid malformation of the lung is a rare lesion that typically manifests as severe progressive respiratory distress in the neonate secondary to expansion of the affected lung. We present a neonate in whom this condition was diagnosed and managed at the Aga Khan University Hospital. In presenting ...
Objective: Our objective were to determine and evaluate the role of genetic counseling and amniocentesis in early detection of chromosomal abnormalities or congenital malformations among women at risk. Patients and Methods: The study was performed on 784 pregnant women. Results: The cause for seeking genetic ...
Apr 2, 2017 ... Background Congenital malformations are defects of morphogenesis of organs or body regions identifiable during the intrauterine life or after birth. The etiological factors proposed have varied in history based on prevailing understanding, culture, and religion. Worldwide historically, the role of the ...
Kim, Yoo Kyung; Kim, Hyae Young; Kwag, Hyon Joo; Chung, Eun Chul; Lee, Jung Sik; Suh, Jeong Soo [Ewha Womens University, medical College, Seoul (Korea, Republic of)
To assess the usefulness of MRI in preoperative diagnosis of congenital anorectal malformation. MR findings of 11 cases with surgically proved anorectal malformations were retrospectively reviewed and compared with operative findings, according to the level of atresia, the development of sphincter muscle, fistula and associated anomalies of other organs. Four of 11 cases were low type of anorectal atresia, 3 cases were intermediate type, and 3 cases were high type. There was one case of Currarino triad with low type of anorectal stenosis. MRI demonstrated the levels of atresia correctly in all cases and revealed fistulas in all high type of anomalies. Degrees of the development of the sphincter muscles were good in all cases of low types and fair in a case of intermediate type and an anorectal stenosis, whereas the development was poor in 2 cases of intermediate type and all 4 cases of high type. The associated anomalies in anorectal malformation were renal agenesis, congenital hip dysplasia and sacral defect with presacral teratoma in Currarino triad. MRI was a simple and useful study to confirm the level of atresia, fistula and associated anomalies in the diagnosis of the congenital anorectal malformation.
Full Text Available The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital malformations most frequently reported in literature or signaled by breeders to the Department of Veterinary Medicine and Animal Production of the University Federico II (Naples, Italy in river buffalo are: musculoskeletal defects (transverse hemimelia, arthrogryposis, umbilical hernia and disorders of sexual development. In conclusion this review put in evidence that river buffalo have a great variety of malformations due to genetic causes, and TH and omphalocele are the most frequent and that several cases are still not reported, leading to an underestimation of the real weight of genetic diseases in this species.
Chifan, Maria; Tîrnovanu, Mihaela; Grigore, Mihaela; Zanoschi, C
Cervical incompetence is basically a cervix that is too weak to stay closed during a pregnancy. It is generally categorized as premature opening of the cervix without labor or contractions. To estimate the incidence of incompetence of the uterine cervix at patients with congenital uterine malformations. Our study was a retrospective and prospective one between 2002 and 2009. We evaluate the length of the cervix by transvaginal ultrasonography during the second trimester of pregnancy. We had 316 cases with congenital uterine malformations. From these we found 49 (15.3%) women with incompetence of the cervix: 8 (2.5%) with unicornuate uterus, 11 (3.4%) with bicornuate uterus and 30 (9.5%) cases uterus with septum. For all these wad made cerclage when we found funneling of the cervix or the cervix was open less than 4 cm. The use of ultrasonography has been very helpful with the diagnosis, and is made when the cervical os (opening) is greater than 2.5 cm, or the length has shortened to less than 20 mm. All patients had preterm delivery. When we have cases with congenital uterine malformations we must think that incompetence of the cervix could be associated, so we must assess the status of the cervix for these patients by serial ultrasound examinations starting between 16 and 20 weeks of gestation. Our patients had preterm delivery caused not only the incompetent cervix, but the malformation of the uterus is implicated also.
Maria dos Anjos Mesquita
Full Text Available Objective: To identify the presence of fetal alcohol syndrome, other alcohol-related congenital defects, and/or neurodevelopment disorders in newborns of mothers who consumed alcohol during gestation. Methods: In a public maternity in the city of São Paulo, 1,964 puerperal women were interviewed and 654 had consumed alcohol at some point during gestation. The newborns were clinically and laboratorially examined in order to identify the occurrence of fetal alcohol syndrome, congenital defects or neurodevelopment disorders related to alcohol. Results: Three children were found with fetal alcohol syndrome (1.5/1,000 live births, 6 with congenital defects related to alcohol (3.0/1,000 live births, and 67 with developmental disorders related to alcohol (34.1/1,000 live births. The congenital malformations found in these children were thin or absent corpus callosum, brain cyst, asymmetry of the cerebral ventricles, meningomyelocele, cleft lip, anteverted nose, low-set ears, megaureter, hydronephrosis, polydactyly, congenital clubfoot, aphalangia of the toes, cryptorchidism, and hypospadia. Conclusion: Newborns of mothers who consumed alcohol may have congenital malformations of various organs and systems, and early diagnosis is fundamental for a probable and occasional more effective resolution and progress.
Albarella, Sara; Ciotola, Francesca; D’Anza, Emanuele; Coletta, Angelo; Zicarelli, Luigi; Peretti, Vincenzo
Simple Summary Congenital malformations (due to genetic causes) represent a hidden danger for animal production, above all when genetic selection is undertaken for production improvements. These malformations are responsible for economic losses either because they reduce the productivity of the farm, or because their spread in the population would decrease the total productivity of that species/breed. River buffalo is a species of increasing interest all over the world for its production abilities, as proved by the buffalo genome project and the genetic selection plans that are currently performed in different countries. The aim of this review is to provide a general view of different models of congenital malformations in buffalo and their world distribution. This would be useful either for those who performed buffalo genetic selection or for researchers in genetic diseases, which would be an advantage to their studies with respect to the knowledge of gene mutations and interactions in this species. Abstract The world buffalo population is about 168 million, and it is still growing, in India, China, Brazil, and Italy. In these countries, buffalo genetic breeding programs have been performed for many decades. The occurrence of congenital malformations has caused a slowing of the genetic progress and economic loss for the breeders, due to the death of animals, or damage to their reproductive ability or failing of milk production. Moreover, they cause animal welfare reduction because they can imply foetal dystocia and because the affected animals have a reduced fitness with little chances of survival. This review depicts, in the river buffalo (Bubalus bubalis) world population, the present status of the congenital malformations, due to genetic causes, to identify their frequency and distribution in order to develop genetic breeding plans able to improve the productive and reproductive performance, and avoid the spreading of detrimental gene variants. Congenital
... of the heart. It is present at birth. Congenital heart defects are the most common type of birth defect. The defects can involve the ... and heart transplants. The treatment depends on the type of the defect, how ... and general health. NIH: National Heart, Lung, and Blood Institute
McCulley, David J.; Black, Brian L.
Congenital heart disease is a major cause of morbidity and mortality throughout life. Mutations in numerous transcription factors have been identified in patients and families with some of the most common forms of cardiac malformations and arrhythmias. This review discusses factor pathways known to be important for normal heart development and how abnormalities in these pathways have been linked to morphological and functional forms of congenital heart defects. A comprehensive, current list of known transcription factor mutations associated with congenital heart disease is provided, but the review focuses primarily on three key transcription factors, Nkx2-5, GATA4, and Tbx5, and their known biochemical and genetic partners. By understanding the interaction partners, transcriptional targets, and upstream activators of these core cardiac transcription factors, additional information about normal heart formation and further insight into genes and pathways affected in congenital heart disease should result. PMID:22449847
Parsa, Cameron F; Robert, Matthieu P
To propose a pathophysiologic mechanism to unify a variety of disparate sporadic congenital malformations. Inductive and deductive analyses to correlate malformation laterality with asymmetries in thoracic anatomy, critical analysis of malformations with female predominance, and concepts of hydrodynamic pressure gradients in vascular growth were applied to the ensuing development of guiding tissue scaffolds for cellular proliferation, differentiation, and apoptosis. Duane syndrome may develop following a focal vascular insult to the sixth nerve trunk with axonal degeneration, allowing for substitutive innervation from third nerve axons to the lateral rectus muscle. Causative fibrin clots may originate from the venous system and paradoxically migrate through physiological right-to left shunts, or they may arise directly from the heart. Hence, the unilateral, left-sided, and female predominance of Duane syndrome results from the asymmetry in the thoracic anatomy and from thrombosis risk factors. Embolic occlusions may also alter local hemodynamic pressure gradients, leading to the compensatory enlargement and persistence of the fetal vasculature and may dysregulate tissue growth. Within the eye, this results in forms of Peters anomaly, unilateral congenital cataracts, and the morning glory disc anomaly, all in the vascular territory of the carotid arteries that also share a propensity for left-sided involvement in girls. Most aberrant misinnervation phenomena (eg, jaw-winking syndrome, crocodile tear syndrome, Brown syndrome, and congenital fibrosis syndrome) and, by extrapolation, the hypoplasia or dysgenesis of noncephalic anatomical structures (including limbs) may be similarly explained. Such malformations will occur more frequently under thrombogenic conditions, such as those induced by thalidomide. Fibrin emboli and focal hypoperfusion may explain the development of many sporadic congenital malformations.
Wang, J; Li, D Y; Zhang, W X; Li, Y C; Wang, J
Objective: To investigate the change in mortality of congenital malformation in children aged mortality of congenital malformation in children aged mortality rate of congenital malformation in the children s decreased from 1.909‰ in 2006 to 0.703‰ in 2015, the decrease rate was 63.17%. The decrease rate was highest in neonates (71.50%) (χ(2)=57.993, P0.05), the mortality rates of congenital malformation in the children showed a downward trend in outer suburban area and suburban area (χ(2) =40.637 and 50.646, P0.05). In the leading causes of deaths from congenital malformation, the mortality of congenital heart disease, neural tube defects and digestive tract atresia decreased obviously (χ(2)=70.868, 18.431 and 9.225, P0.05). There was an obvious area specific difference between the deaths of congenital heart disease and the deaths of neural tube defects, the mortality was higher in outer suburbs than in suburban and urban area (χ(2)=45.783 and 6.649, Pmortality rate of children with congenital malformation in Beijing has declined year by year, it is still the main cause of deaths in children under 5 years old, and the prevention and control of related diseases should be strengthened.
Full Text Available The aim of the article is to describe the case of congenital cystic adenomatoid malformation. The definition of this pathology, its morphology, classification, frequency and clinical forms are considered in the work. The data of the observation of a newborn with a complicated form of the defect have been determined: the peculiarities of the neonatal adaptation, the results of examination and treatment.
Full Text Available Lymphatic malformations have been rarely reported in literature either in humans or in animals. However, in recent years, concern about these malformations in humans has increased. A five-month-old Rasa Aragonesa male lamb was received at the Ovine Clinical Service of the Veterinary Faculty of Zaragoza, Spain, with a history of cervical protuberances coming from birth. The lamb showed three round swollen lumps (5–12 cm in diameter parallel to the trachea on the left side of the neck. Clinical examination, haematology, ultrasonography, fluid examination and histopathology were performed. No abnormalities were found in blood samples and ultrasound confirmed a multicystic lesion with internal separations. Histological evaluation of the tissue revealed dilated lymphatic vessels and channels in the dermis and hypodermis; some lymphatic vessels were filled with amorphous proteinaceous material and occasional lymphocytes and macrophages. These protuberances were diagnosed as congenital lymphatic malformations. Most of the gross and microscopical lesions were very similar to those described in humans. To the authors’ knowledge, this is the first time that a congenital lymphatic malformation is described in sheep.
Ertl-Wagner, B.B.; Reiser, M.F. [Klinikum Grosshadern, Ludwig-Maximilians-Univ. Muenchen (Germany). Inst. fuer Klinische Radiologie
Congenital spinal malformations form a complex and heterogeneous group of disorders whose pathogenesis is best explained embryologically. Radiologically, it is important to formulate a diagnosis when the disorder first becomes symptomatic. However, it is also crucial to detect complications of the disorder or of the respective therapeutic interventions in the further course of the disease such as hydromyelia or re-tethering after repair of a meningomyelocele. Moreover, once a congenital spinal malformation is diagnosed, associated malformations should be sought after. A possible syndromal classification such as in OEIS- or VACTERL-syndromes should also be considered. (orig.) [German] Kongenitale spinale Malformationen stellen eine komplexe Gruppe an Stoerungen dar, deren Genese sich am einfachsten aus der Embryologie heraus erklaeren laesst. Bei der klinisch-radiologischen Begutachtung ist zunaechst ihre korrekte Klassifikation im Rahmen der Erstdiagnose wichtig. Im weiteren Verlauf ist es jedoch zudem entscheidend, moegliche Komplikationen wie beispielsweise eine Hydromyelie oder ein Wiederanheften des Myelons nach Operation einer Spina bifida aperta zu erkennen. Zudem sollte bei der Diagnosestellung einer kongenitalen spinalen Malformation immer auch auf assoziierte Fehlbildungen, wie z.B. die Diastematomyelie oder das intraspinale Lipom bei der Spina bifida aperta, sowie auf eine moegliche syndromale Einordnung wie beispielsweise beim OEIS-oder VACTERL-Syndrom geachtet werden. (orig.)
Kabuki syndrome (KS) is an entity of multiple congenital malformations with mental retardation with undetermined etiology. Congenital heart defects are one of the clinical manifestations of KS with insufficient elucidations. Literature of congenital heart defects associated with KS was comprehensively retrieved, collected and reviewed. The clinical features of the congenital heart defects in the patients with KS were summarized. Congenital heart defects were one of the clinical manifestations of KS with 90.6% of the patients being diagnosed prenatally or at an early age. Left-sided obstructions/aortic dilation and septal defects were the fi rst two types of anomalies, accounting up to 46.1% and 32.9%, respectively. The most common congenital heart defects were coarctation of the aorta, and atrial and ventricular septal defects. Fifteen (19.7%) patients received surgical repair of congenital heart defects at a mean age of 0.8 ± 1.3 years. Congenital heart defects are one of the clinical manifestations of KS with 90.6% of the patients being diagnosed prenatally or at an early age. About 20% of the patients warranted surgical repair of the heart defects. Patients with KS require close follow-up in terms of their etiology, clinical presentations and long-term prognosis.
Conclusion: Our rate of malformations associated with I-PRUV (17.9% is similar to previously published rates. I-PRUV has shown a significant increase in the rate of associated malformations, although this association has only been found to be statistically significant in the genitourinary system. Noteworthy is the fact that this comparative study has not pointed to a significant increase in the congenital heart malformation rate. Diagnosis of isolated I-PRUV does not carry a worse prognosis.
Bellah, R.; D' Andrea, A.; Darillis, E.; Fellows, K.E.
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.
Full Text Available Maternal diabetes has toxic effects on the development of the embryo and significantly increases the risk of congenital malformations in humans. The incidence of fetal structural defects caused by maternal pregestational diabetes is three- to fourfold higher than that caused by non-diabetic pregnancy. The congenital malformations associated with diabetic pregnancy arise before the seventh gestational week. Diabetic embryopathy can affect any developing organ system, including the central nervous system (CNS (anencephaly, spina bifida, microcephaly, and holoprosencephaly, skeletal system (caudal regression syndrome, sacral agenesis, and limb defects, renal system (renal agenesis, hydronephrosis, and ureteric abnormalities, cardiovascular system (transposition of the great vessels, ventricular septal defects, atrial septal defects, coarctation of the aorta, cardiomyopathy, and single umbilical artery, and gastrointestinal system (duodenal atresia, anorectal atresia, and small left colon syndrome. Pregnant women with fetuses with diabetic embryopathy may have chronic or unrecognized hyperglycemia and elevated levels of glycerated hemoglobin. This review emphasizes the necessity to consider hyperglycemia-induced teratogenesis during genetic counseling of parents with prenatally detected fetal malformations. Successful preconception counseling for women with diabetes mellitus and metabolic control will reduce birth defects and maternal morbidity.
African sub-region. There is paucity of knowledge about the common types of Orthopaedic congenital malformations in our environment. This study was undertaken to determine the pattern of congenital Orthopaedic malformations in a Teaching. Hospital. Study design: This was a prospective study of all the. Orthopaedic ...
The profile of congenital malformations seen in Sagamu, Southwestern Nigeria during a period of eight years is described. The result of this retrospective cross sectional study showed an incidence of congenital malformation of 10.7 per 1000 live births. Low order of parity (1 and 2) was mostly affected (65.8%), and 80.0% of ...
Jentink, Janneke; Loane, Maria A; Dolk, Helen
The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited.......The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited....
Gastrointestinal, central nervous and musculo-skeletal system malformations were the commonest seen with individual incidences of 3.9, 3.5 and 2.1 per 1000 total births, respectively. Unclassified congenital malformations had the highest case fatality while central nervous system malformations constituted the commonest ...
Omololu, B; Ogunlade, S O; Alonge, T O
Congenital Orthopaedic malformations are common malformations that are usually unacceptable to the common populace in the West African sub-region. There is paucity of knowledge about the common types of Orthopaedic congenital malformations in our environment This study was undertaken to determine the pattern of congenital Orthopaedic malformations in a Teaching Hospital. This was a prospective study of all the Orthopaedic congenital malformations seen in our surgical outpatient departments and the inpatient referrals from the wards between January 1995 and December 2003. There were 284 patients in total with a male to female ratio of 2:1 and age range between two days to nine years. Clubfoot (CTEV) accounted for 52.8% of all the malformations while Congenital knee dislocation (CDK) and calcaneovalgus deformity accounted for 8%. Congenital hip dislocation (CDH) accounted for only 2.2% of all the cases. Congenital talipes equinovarus deformity is the most common congenital orthopaedic malformation in this environment while congenital hip dislocation (CDH) is rare when compared with the Caucasians.
Zeng, Shuang-Lin; Li, Ya-Jun; Huang, Ting; Tan, Li-Hua; Mei, Xi-Long; Sun, Jian-Ning
To study the relationship of the incidence of bronchial dysplasia (bronchial anomalous origin and bronchial stenosis) with congenital heart disease. A total of 185 children with congenital heart disease or bronchial dysplasia were enrolled. Bronchial dysplasia was identified by the 64-MSCT conventional scanning or thin slice scanning with three-dimensional reconstruction. Forty-five children (25.3%) had coexisting bronchial dysplasia and congenital heart disease. The incidence rate of bronchial dysplasia in children with congenital heart disease associated with ventricular septal defect was higher than in those without ventricular septal defect (33.7% vs 15.0%; Pincidence rate of bronchial dysplasia between the children with congenital heart disease who had a large vascular malformation and who did not. Bronchial dysplasia often occurs in children with congenital heart disease. It is necessary to perform a tracheobronchial CT scanning with three-dimensional reconstruction to identify tracheobronchial dysplasia in children with congenital heart disease, especially associated with ventricular septal defect.
Mangones, Tania; Manhas, Amitoz; Visintainer, Paul; Hunter-Grant, Cheryl; Brumberg, Heather L
Congenital cardiovascular malformations (CCVMs) are the most common forms of congenital defects, contributing to morbidity and mortality in neonates but information on the association of CCVMs and race is limited. This study aims to determine prevalence of congenital cardiovascular malformations (CCVMs) in the Hudson Valley Region (HVR) of NY State (NYS) by race and ethnicity. NYS Department of Health Vital Statistics and Congenital Malformations Registry data were obtained by race and ethnicity (1992-2001) across the HVR. Live-birth cases that were diagnosed up to 2 years of age were included in year-of-birth registration. Prevalence was calculated using race/ethnic specific births. Poisson regression models, adjusting for number of live births by race, time and county, as specified were used for analysis. There were 3075 CCVMs of 2303 children from a birth population of 235,230. Overall prevalence of CCVMs was highest for Non-Hispanic White (NHW; 14.4/1000 live births) followed by Non-Hispanic Black (12.8/1000 live births), Others (12.5/1000 live births), and then Hispanics (8.8/1000 live births). Similarly, the risk ratio of all CCVMs was lowest for Hispanics. Hispanics had a lower risk as compared to NHW in each CCVM category except with hypoplastic left heart syndrome and patent ductus arteriosus. There were minimal temporal and regional differences. In the HVR, all CCVMs and specific anomalies have the highest prevalence in NHW with Hispanics consistently maintaining a lower risk. Copyright © 2009 Elsevier Ireland Ltd. All rights reserved.
Stoever, B.; Scheer, I.; Bassir, C. [Klinik fuer Strahlenheilkunde, Berlin (Germany). Abt. Paediatrische Radiologie, Charite; Mau, H. [Campus Virchow-Klinikum, Klinik fuer Kinderchirurgie, Berlin (Germany); Chaoui, R. [Campus Mitte, Klinik fuer Geburtsmedizin, Berlin (Germany); Henrich, W. [Campus Virchow-Klinikum, Klinik fuer Geburtsmedizin, Berlin (Germany); Schwabe, M. [Campus Mitte, Inst. fuer Pathologie, Berlin (Germany); Wauer, R. [Campus Mitte, Klinik fuer Neonatologie, Berlin (Germany)
Purpose: The aim of the study concerning congenital cystic lung malformations was to evaluate prenatal diagnoses postnatally to determine prognostic factors as well as to define optimized perinatal management. Materials and Methods: The study is based on 45 prenatal ultrasound examinations depicting fetal cystic lung lesions. 32 of the mothers had follow-up examinations. 5 pregnancies were terminated due to CCAM and additional malformations. Complete regression of the lesions was seen prenatally in 8 cases and postnatally in 5 children. Results: Surgical intervention due to respiratory insufficiency was necessary in 4 neonates. According to the imaging results, CCAM was present in 4 cases and sequestration in 7 patients. No correlation between the imaging findings and the surgical results was found in 3 children: One child suffered from rhadomyoid dysplasia, and in the case of the second child, a left-sided hernia of the diaphragm and additional sequestration were detected. The third child showed AV malformation. The cystic lesions of the 14 children operated upon were proven histologically. The degree of accuracy in the present study was high. Conclusion: Precise perinatal management is warranted in order to determine according to the clinical relevance surgical intervention and to prevent complications after the first year of life. This is performed during the neonatal period for respiratory insufficient neonates and within the first year of life for clinically stable children. (orig.)
Hinton, Robert B; Ware, Stephanie M
Heart failure (HF) is a complex clinical syndrome resulting from diverse primary and secondary causes and shared pathways of disease progression, correlating with substantial mortality, morbidity, and cost. HF in children is most commonly attributable to coexistent congenital heart disease, with different risks depending on the specific type of malformation. Current management and therapy for HF in children are extrapolated from treatment approaches in adults. This review discusses the causes, epidemiology, and manifestations of HF in children with congenital heart disease and presents the clinical, genetic, and molecular characteristics that are similar or distinct from adult HF. The objective of this review is to provide a framework for understanding rapidly increasing genetic and molecular information in the challenging context of detailed phenotyping. We review clinical and translational research studies of HF in congenital heart disease including at the genome, transcriptome, and epigenetic levels. Unresolved issues and directions for future study are presented. © 2017 American Heart Association, Inc.
A Mehrabi Kushki
Full Text Available Background: Consanguinity has been a long-standing social habit among some of Iranians. The estimation of consanguinity ratios in different parts of Iran ranged from 30 to 85%. This study aimed to delineating the role of consanguinity on congenital malformations in Khominishahr rural population, Isfahan, Iran. Methods: In a case-control study, 518 malformed population (case group and 518 normal subjects (control group were randomly selected from khominishahr rural population, from July to November, 2003. Results: The frequency of consanguinity of parent’s was 59.7% in case group and 31.5% in control group. This different was statistically significant (p < 0.001. Conclusion: Family history of congenital malformation may play an important role in the high rates of congenital malformation. Key words: Consanguinity, Congenital Malformations
Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K.
% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid......OBJECTIVE: To examine the association between maternal smoking during pregnancy and risk for congenital malformations. DESIGN: Population-based prospective cohort study. SETTING: Denmark. POPULATION: A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010...... and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. METHODS: Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized...
Van Velzen, C. L.; Clur, S. A.; Rijlaarsdam, M. E B; Bax, C. J.; Pajkrt, E.; Heymans, M. W.; Bekker, M. N.; Hruda, J.; De Groot, C. J M; Blom, N. A.; Haak, M. C.
Objective Congenital heart disease (CHD) is the most common congenital malformation and causes major morbidity and mortality. Prenatal detection improves the neonatal condition before surgery, resulting in less morbidity and mortality. In the Netherlands a national prenatal screening programme was
... for acne, chemicals, alcohol, and infections (such as rubella ) during pregnancy can contribute to some congenital heart problems. Poorly ... medicines. Have a blood test early in your pregnancy to see if you are immune to rubella. If you are not immune, avoid any possible ...
Full Text Available Aim: Pediatric lung resection is a relatively uncommon procedure that is usually performed for congenital lesions. In recent years, thoracoscopic resection has become increasingly popular, particularly for small peripheral lesions. The aim of this study was to review our experience with traditional open lung resection in order to evaluate the existing "gold standard." Materials and Methods: We carried out a retrospective analysis of all children having lung resection for congenital lesions at our institution between 1997 and 2004. Data were collected from analysis of case notes, operative records and clinical consultation. The mean follow-up was 37.95 months. The data were analyzed using SPSS. Results: Forty-one children (13 F/28 M underwent major lung resections during the study period. Their median age was 4.66 months (1 day-9 years. The resected lesions included 21 congenital cystic adenomatoid malformations, 14 congenital lobar emphysema, four sequestrations and one bronchogenic cyst. Fifty percent of the lesions were diagnosed antenatally. Twenty-six patients had a complete lobectomy while 15 patients had parenchymal sparing resection of the lesion alone. Mean postoperative stay was 5.7 days. There have been no complications in any of the patients. All patients are currently alive, asymptomatic and well. None of the patients have any significant chest deformity. Conclusions: We conclude that open lung resection enables parenchymal sparing surgery, is versatile, has few complications and produces very good long-term results. It remains the "gold standard" against which minimally invasive techniques may be judged.
Full Text Available Congenital heart defects are one of the most interesting and important chapters regarding abnormal fetal growth pathology. The objective of this article is to present a literature review for the main cyanotic congenital heart defects. The ones presented in the article are: tetralogy of Fallot, transposition of the great vessels, double outlet right ventricle, truncus arteriosus, total anomalous pulmonary venous circulation and additional information regarding very rare malformations such as pentalogy of Cantrell and Uhl anomaly. An early and precise identification of congenital heart defects is an important step in an accurate follow-up of a potential problematic pregnancy. Knowing the sonographic aspect, associated pathology and the current available treatment procedures are vital for the fetal outcome and for the physician to adapt the right management in every situation that might appear during the pregnancy and in the neonatal period.
... and related health problems. Common Heart Defects Common types of congenital heart defects, which can affect any part of the heart ... circulation. Echocardiograms are the primary tool for diagnosing congenital ... is a specialized type of ultrasound that allows diagnosis of heart problems ...
Background: Congenital Orthopaedic malformations are common .... There was a positive family history of Clubfoot in two of the ... Racial and genetic factors are said to be inﬂuential in ... conceded to any history of smoking during pregnancy.
Bedregal, P; Orfali, C; Norero, E; Vercellino, M
Congenital malformations are defined as those structural, metabolic or functional defects found at birth. To study the mortality due to congenital malformations in Chile between 1969 and 1997, their type, individual, temporal and geographic variations. A descriptive analysis of deaths registered by the National Statistics Institute and the Ministry of Health. Means, frequencies, raw and adjusted rates were calculated and inferences for some variables were carried out. Between 1969 and 1997 ther was tendency towards a reduction in rates of mortality due to congenital malformations and an increment in their relative importance. During the period, the risk for chromosome (98%) and osteomuscular (67%) malformations increased. Men and children of less than one year had the higher risk. In 1995, 1167 deaths due to congenital malformations were registered, 90% in children of less than 5 years. Higher risks occurred in urban zones (with a rate of 8.25 per 100,000) in the third region (rate 11.59) and second region (rate 11.2). Most deaths occurred in hospitals (85%). Main causes of death were circulatory system, central nervous system and chromosome malformations. The differences in regional deaths due to congenital malformations suggests specific risks that deserve further study.
Larsen, Allan Boye Vagn; Hannerz, H; Thulstrup, A M
Cohort. POPULATION: A cohort of 60,386 singleton children with full information on mother's occupational status, exposure to psychosocial job strain and all covariates during pregnancy. METHODS: Logistic regression analysis was used to calculate the odds of congenital malformations as a function of job......, muscle and any malformations is not supported by this study....
kyphoscoliosis. Other malformations included patella absence, resulting in bowing of both fore. "and hind limbs with poorly developed muscles associated with these skeletal structure. Dystocia was believed to be a result of fetal monstrosity resulting in abnormal posture. The cause of the congenital malformations was not ...
Other malformations included patella absence, resulting in bowing of both fore and hind limbs with poorly developed muscles associated with these skeletal structure. Dystocia was believed to be a result of fetal monstrosity resulting in abnormal posture. The cause of the congenital malformations was not obvious ...
Petrossian, Robert A; Kuehl, Karen S; Loffredo, Christopher A
A known comorbidity of congenital cardiovascular malformations is low birth weight, but the reasons for this association remain obscure. This retrospective study examines the relationship between congenital cardiovascular malformations and the birth weight of singletons, taking into account differences in gestational age and other factors. Using data from the retrospective, population-based Baltimore-Washington Infant Study, six types of congenital cardiovascular malformations were investigated in comparison with controls (n=3519) through linear regression: d-transposition of the great arteries (n=187), other conotruncal heart defects (n=361), endocardial cushion defects (n=281), left heart obstructive lesions (n=507), atrial septal defects (n=281), and membranous ventricular septal defects (n=622). Infants with conotruncal heart defects (-218 g), endocardial cushion defects with Down syndrome (-265 g), endocardial cushion defects without Down syndrome (-194 g), left heart obstructive lesions (-143 g), atrial septal defects (-150 g), and membranous ventricular septal defects (-127 g) showed significant birth weight deficits, adjusting for gestational age, and other covariates. Infants with d-transposition of the great arteries (-67 g) did not show significant birth weight deficits compared with the control group. The degree of birth weight decrement appears to be highly related to the specific type of congenital cardiovascular malformation. As a whole, these infants do not exhibit low birth weights solely because of being premature, and thus other mechanisms must underlie these associations.
Full Text Available Research question: Is there an association between common socio â€" cultural variables and congenital malformation? Objectives: To determine the rate of congenital malformation at birth in hospital deliveries and its association with socio- cultural factors. Study design : Cross- sectional. Setting: J.N. Medical College Hospital and Mohanlal Gautam Rajkiya Hahila Chikitsalaya (District hospital, Aligarh. Participants: All newborn babies (including still births delivered in the two hospitals and their mothers. Study variables: Social class, religion, consanguinity of marriage, age of mother, parity, urban rural status, history of viral illness, drug intake and tobacco use during pregnancy. Outcome variables: Congenital malformations at birth. Statistical analysis: Chi- square test. Results: The overall prevalence of congenital malformations was 2.8%, being 1.6% in live births and 15.6% in stillbirths. Social class, consanguinity of marriage, parity, urban or rural status and history of viral illness during pregnancy were significantly associated with the date of congenital malformation. Conclusion: Certain socio- cultural factors are associated with congenital malformations and can be used in screening during ante- natal period.
Congenital cystic adenomatoid malformation (CCAM) of the lung an entity which results from a harmatomatous proliferation of the bronchioles constitutes 25% of the all congenital lung anomalies. Majority of cases of CCAM usually present with respiratory distress from birth, while others may present with recurrent chest ...
Andersen, Jon Trærup; Petersen, Morten; Jimenez-Solem, Espen
(OR) of major congenital malformation was 1.87, 95% confidence interval (CI) 1.25-2.81. There was a significant increase in major malformations of the heart (OR = 2.49; 1.18-5.26) and limbs (OR = 2.18; 1.13-4.23). Conclusions. In this study, we found an association between exposure to trimethoprim...... during the 12 weeks before conception and an increased risk of heart and limb defects.......Objectives. The aim of the study was to investigate whether the use of the antifolate antibiotic trimethoprim during the 12 weeks before conception was associated with congenital malformations. Methods. We conducted a nationwide register-based cohort study including all Danish women giving birth...
Congenital heart defects are among the most frequent anomalies present at birth, representing a heterogeneous group of malformations, both in terms of pathogenesis and clinical significance of the lesion. Failure to grow is well documented in infants with complex congenital heart defects; the presence of associated chromosomal abnormalities, cyanosis, and cardiac failure adds to the complexity and challenge. Malnutrition etiology can be grouped into the following three categories: inadequate ...
Moore, Jeremy P; Aboulhosn, Jamil A
The position and course of the conduction system in congenital heart disease are intricately tied to the underlying congenital malformation. Although only subtle differences exist between the anatomy of the conduction axis for simple congenital heart lesions and normal anatomy, almost every patient with congenital heart disease harbors some important anatomic variation. This article summarizes the body of literature by retaining original classical concepts and by attempting to translate the available knowledge into useful points for the congenital heart disease specialist. This discussion spans the entire spectrum of simple to complex congenital heart disease. Copyright © 2017 Elsevier Inc. All rights reserved.
Full Text Available Background. The question is debated on whether maternal hypothyroidism or use of thyroxin in early pregnancy affects the risk for infant congenital malformations. Objectives. To expand the previously published study on maternal thyroxin use in early pregnancy and the risk for congenital malformations. Methods. Data from the Swedish Medical Birth Register were used for the years 1996–2011 and infant malformations were identified from national health registers. Women with preexisting diabetes or reporting the use of thyreostatics, anticonvulsants, or antihypertensives were excluded from analysis. Risk estimates were made as odds ratios (ORs or risk ratios (RRs after adjustment for year of delivery, maternal age, parity, smoking, and body mass index. Results. Among 23 259 infants whose mothers in early pregnancy used thyroxin, 730 had a major malformation; among all 1 567 736 infants, 48012 had such malformations. The adjusted OR was 1.06 (95% CI 0.98–1.14. For anal atresia the RR was 1.85 (95% CI 1.00–1.85 and for choanal atresia 3.14 (95% CI 1.26–6.47. The risk of some other malformations was also increased but statistical significance was not reached. Conclusions. Treated maternal hypothyroidism may be a weak risk factor for infant congenital malformations but an association with a few rare conditions is possible.
Jentink, Janneke; Dolk, Helen; Loane, Maria A
To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy.......To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy....
Adachi, Iki; Morales, David S L
In patients with end-stage heart failure (HF), a total artificial heart (TAH) may be implanted as a bridge to cardiac transplant. However, in congenital heart disease (CHD), the malformed heart presents a challenge to TAH implantation. In the case presented here, a 17 year-old patient with congenital transposition of the great arteries (CCTGA) experienced progressively worsening HF due to his congenital condition. He was hospitalized multiple times and received an implantable cardioverter defibrillator (ICD). However, his condition soon deteriorated to end-stage HF with multisystem organ failure. Due to the patient's grave clinical condition and the presence of complex cardiac lesions, the decision was made to proceed with a TAH. The abnormal arrangement of the patient's ventricles and great arteries required modifications to the TAH during implantation. With the TAH in place, the patient was able to return home and regain strength and physical well-being while awaiting a donor heart. He was successfully bridged to heart transplantation 5 months after receiving the device. This report highlights the TAH is feasible even in patients with structurally abnormal hearts, with technical modification.
Rosana Alves de Melo
Full Text Available Objective: To evaluate the neonatal morbidity due to congenital malformations in the city of Petrolina-PE, from 2008 to 2013. Methods: A descriptive study with data from the Information System on Live Births (Sinasc. The analyzes were carried out through frequency distribution and measures of central tendency and dispersion. The associations were tested by the Pearson and Kruskal Wallis chi-square tests. Significance was set at 5% and 95% confidence. Results: 436 cases of congenital malformations were recorded in the study period, with 2011 being the highest occurrence year. The mothers of the newborns were young (25.2 years old, single, upper level of education and household. In general multiparous, with single gestation, vaginal delivery and performed up to six prenatal visits. The newborns were males, at 39 weeks or more of gestation and with normal weight (> = 2500g. The malformations of the musculoskeletal system were the most frequent followed by the genitourinary system. Congenital malformations were especially associated with neonatal characteristics such as gender and weight. In all causes the mean weight was greater than 2500g (p 0.05. Conclusion: The present study evidenced relevant aspects in the occurrence of morbidities due to congenital malformations, directing to a greater attention the occurrence of these diseases especially in relation to the newborn.
Navarro, M; Cristofol, C; Carretero, A; Arboix, M; Ruberte, J
Benzimidazole compounds have teratogenic effects in domestic and experimental animals. In this study, 14 Manchega ewes were treated orally, under controlled conditions, with 20 mg netobimin (a prodrug of a benzimidazole compound) per/kg bodyweight on the 17th day of pregnancy. Congenital malformations and abortions affected 60 per cent of the lambs. The main malformations were skeletal and renal, but vascular malformations were observed for the first time. The abnormalities were investigated using radiological, dissection and vascular injection techniques, and associations among them were recorded. The anomalies are discussed in terms of embryological considerations.
... born with one or more heart defects has congenital heart disease . Surgery is needed if the defect could harm the child's long term health or well-being. Description There are many types of pediatric heart surgery . Patent ductus arteriosus (PDA) ...
Nassiri, Naiem; Cirillo-Penn, Nolan C; Thomas, Jones
The International Society for Study of Vascular Anomalies (ISSVA) broadly categorizes vascular anomalies into vascular tumors and vascular malformations. Vascular malformations are further divided based on their flow properties into slow-flow venous and lymphatic malformations, high-flow arteriovenous malformations (AVMs), and congenital mixed syndromes, which can include combinations thereof. Whether occurring in isolation or as part of a broader syndrome, congenital high-flow AVMs are arguably the most complicated, challenging, and gratifying of all vascular malformations to diagnose and manage. Various configurations exist depending on location and coexisting clinical features. Transcatheter embolization has evolved into the mainstay of treatment for most congenital peripheral AVMs with surgical excision playing a growingly limited role as an adjunctive modality. Successful treatment requires technical precision, creativity, patience, and persistence given the ever-evolving angioarchitecture and hemodynamic profile of these lesions. Despite these challenges, certain fundamental principles have been established as our understanding of the pathogenesis, natural history, hemodynamics, and treatment outcomes has expanded and evolved over the last few decades. These principles are crucial to adhere to in the overall management of these lesions and are highlighted and expanded upon herein. Copyright © 2015 Society for Vascular Surgery. Published by Elsevier Inc. All rights reserved.
DeMarcantonio, Michael A; Hart, Catherine K; Yang, Christina J; Tabangin, Meredith; Rutter, Michael J; Bryant, Roosevelt; Manning, Peter B; de Alarcón, Alessandro
Evaluate and compare surgical outcomes of slide tracheoplasty for the treatment of congenital tracheal stenosis in children with and without pulmonary malformations. Retrospective chart review at a tertiary care pediatric medical center. We identified patients with tracheal stenosis who underwent slide tracheoplasty from 2001 to 2014, and a subset of these patients who were diagnosed with congenital pulmonary malformations. Hospital course and preoperative and postoperative complications were recorded. One hundred thirty patients (18 with pulmonary malformations, 112 with normal pulmonary anatomy) were included. Pulmonary malformations included unilateral pulmonary agenesis (61%) and hypoplasia (39%). Children with pulmonary malformations had a greater median age compared to their normal lung anatomy counterparts. Preoperatively, patients with pulmonary malformations more frequently required preoperative mechanical ventilation (55.6% vs. 21.3%, P = .007), extracorporeal membrane oxygenation (ECMO) (11% vs. 0.9%, P = .05), and tracheostomy (22.2% vs. 3.6%, P = .01). Postoperatively, patients with pulmonary malformations more frequently required mechanical ventilation >48 hours (78% vs. 37%, P =.005) and ECMO use (11% vs. 0.9%, P = .05). Pulmonary malformation patients and children with normal anatomy did not differ in terms of postoperative tracheostomy (16.7% vs. 4.4%, P > .05), dehiscence (6% vs. 0%, P > .05%), restenosis (11% vs. 6%, P > .05) or postoperative figure 8 deformity (6% vs. 3%, P > .05). Mortality, however, was significantly increased (22.2% vs. 3.6%, P = .01) in children with pulmonary malformations. Although slide tracheoplasty can be successfully performed in patients with abnormal pulmonary anatomy, surgeons and families should anticipate a more difficult postoperative course, with possible associated prolonged mechanical ventilation, ECMO use, and higher mortality than in children with tracheal stenosis alone. 4. Laryngoscope, 127:1283-1287, 2017
Jentink, J.; Loane, M.A.; Dolk, H.; Barisic, I.; Garne, E.; de Jong-van den Berg, L.T.W.; Morris, Joan K.
Background: The use of valproic acid in the first trimester of pregnancy is associated with an increased risk of spina bifida, but data on the risks of other congenital malformations are limited. Methods: We first combined data from eight published cohort studies (1565 pregnancies in which the women
N. S. Kamakeri
Full Text Available Congenital cystic adenomatoid malformation of lung associated with Cystic dysplasia of kidney, cystic disease of liver with mixed gonadal dysgenesis is rare and is not reported in literature so far. Hence an attempt is made to present this rarest entity.
Objective: The study pattern of congenital malformations (CM) among newborn infants in Calabar, South-south Nigeria. Patients and Methods: Medical records of all inborn and out-born neonates who were admitted and treated for CM in University of Calabar teaching Hospital (UCTH) from 1997 to 2006 (10 years) were ...
15.8, per 1000 total births, while the contribution of such malformations to perinatal mortality was 11.9 per cent. Gastrointestinal, central nervous and musculo-skeletal system malforma- tions were the commonest seen With individual incidences of 3.9, 3.5 and 2.1 per 1000 total births, respectively. Unclassiﬁed congenital ...
Anthony, S.; Buitendijk, S. E.; Dorrepaal, C. A.; Lindner, K.; Braat, D. D. M.; den Ouden, A. L.
BACKGROUND: The percentage of children born after IVF will continue to increase due to demographic changes such as increasing maternal age and new developments in assisted reproduction techniques. IVF conceptions may carry an increased risk of congenital malformations. METHODS: We compared overall
Cordier, S; Bergeret, A; Goujard, J; Ha, MC; Ayme, S; Calzolari, E; DeWalle, HEK; KnillJones, R; Candela, S; Dale, [No Value; Dananche, B; deVigan, C; Fevotte, J; Kiel, G; Mandereau, L
Glycol ethers are found in a wide range of domestic and industrial products, many of which are used in women's work environments. Motivated by concern about their potential reproductive toxicity, we have evaluated the risk of congenital malformations related to glycol ether exposure during preg
Sass, L; Urhoj, S K; Kjærgaard, J
was associated with an increased risk of congenital malformations in the offspring. Methods: The Danish National Birth Cohort is a population-based cohort of 100,418 pregnant women and their offspring recruited in 1996 to 2002. Information on fever during pregnancy was collected prospectively by means of two...
Pedersen, Lars Henning
Pharmacological treatment of pregnant women with depression is hampered by concerns for the developing fetus. The presentation will summarize existing knowledge on the potential association between antidepressants and congenital malformations, elaborate on the scientific background, and discuss t...... during pregnancy. Possible clinical measures may include fetal echocardiographic evaluation of exposed pregnancies....
A case of polyhydramnios associated with multiple congenital abnormalities in the fetus of a 25 year old primigravida, at 33 weeks gestation is reported. She presented with complaint of excessive abdominal distension and ultrasound scan revealed severe polyhydramnios (AFI 46.1cm) with multiple congenital ...
Full Text Available Introduction: Although screening for congenital heart defects (CHD relies mainly on antenatal ultrasonography and clinical examination after birth, life-threatening cardiac malformations are often not diagnosed before the patient is discharged.
Lisi, A.; Botto, L.D.; Rittler, M.; Castilla, E.; Botting, B.; De Walle, H.; Erickson, J.D.; Gatt, M.; De Vigan, C.; Irgens, L.; Johnson, W.; Lancaster, P.; Merlob, P.; Mutchinick, O.M.; Ritvanen, A.; Robert, 28033; Scarano, G.; Stoll, C.; Mastroiacovo, P.
The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or
Lisi, A; Botto, LD; Rittler, M; Castilla, E; Bianchi, F; Botting, B; De Walle, H; Erickson, JD; Gatt, M; De Vigan, C; Irgens, L; Johnson, W; Lancaster, P; Merlob, P; Mutchinick, OM; Ritvanen, A; Robert, E; Scarano, G; Stoll, C; Mastroiacovo, P
The study evaluated the sex distribution of major isolated malformations and common trisomies among a large and geographically varied sample. Eighteen registries from 24 countries contributed cases, which were centrally reviewed and classified in three clinical types as isolated, associated, or
Offen, Sophie; Jackson, Dan; Canniffe, Carla; Choudhary, Preeti; Celermajer, David S
Dextrocardia is rare in the general population, and may be associated with significant additional cardiac malformations. We aimed to identify the prevalence and patterns of additional cardiac defects, as well as the associated long-term morbidity and mortality, in adult patients with dextrocardia, in a specialised Adult Congenital Heart Disease (ACHD) service. A retrospective study of patients with dextrocardia managed by our tertiary ACHD service, since January 2000, was performed. Medical records were reviewed and the National Death Index was consulted to confirm survival status. Of 3698 adults in our ACHD Service, 19 (0.5%) had dextrocardia. Mean follow-up duration was 7±7.5 years. The mean age at last review was 36.8±10.5 years (range 20-63 years). Situs was solitus in 14 (74%) and inversus in five (26%). Eleven patients (58%) had functional single ventricles, of whom five had atrioventricular (AV)-ventriculoarterial (VA) discordance and two had VA discordance only. Four patients with two ventricles had AV-VA discordance. All patients had at least one additional cardiac malformation. Fourteen patients (74%) required surgical intervention. Eleven patients (58%) underwent a Fontan-type operation. Five patients (26%) required ablation procedures for arrhythmia. One patient had infective endocarditis and two deaths occurred, both in patients who also had AV-VA discordance. Dextrocardia remains a rare finding in adults, even in a highly select group of patients with known congenital heart disease. Those with associated congenital heart abnormalities are likely to have complex lesions, which may require multiple surgical and medical interventions. Despite this, our series demonstrated that patients surviving to adulthood and then managed in an ACHD centre may have good medium-term survival. Copyright © 2015 Australian and New Zealand Society of Cardiac and Thoracic Surgeons (ANZSCTS) and the Cardiac Society of Australia and New Zealand (CSANZ). Published by
Full Text Available Aim. Congenital cystic adenomatoid lung malformation is a rare unilateral dysplasia of the lung. Three pathologic types are described in the literature: type I with cysts >2 cm, type II with cysts <1 cm, and type III with microcysts. The aim of this paper is to present a case of a fetus with congenital cystic adenomatoid lung malformation and discuss the necessity for pregnancy termination according to its prognosis and future mortality. Case. A 36-year-old pregnant woman (para: 1, gravida: 1 presented in our department for anatomy ultrasound screening at 20+1 weeks of gestation. The ultrasound detected a cystic adenomatoid right lung malformation measuring 1.45×1.67 cm which caused mediastinal shift of the heart and the lung to the left side. Other findings were cysts of the choroid plexus and echogenic intracardiac foci. The parents after genetic counseling decided pregnancy termination. The pregnant received cabergoline for ablactation. Conclusion. Congenital cystic adenomatoid lung malformation has different prognosis according to the type (69% in type I, 0% in types II and III. Fetal hydrops, cardiac and skeletal anomalies, Potter's syndrome, and gastrointestinal atresia are common cofindings. Genetic counseling is necessary, and pregnancy termination is proposed to the cases with poor prognosis.
Møller, Rikke Steensbjerre
The search for genetic causes of congenital brain malformations, severe epilepsy and mental retardation plays an important role in neuropediatrics and neurology. Disclosure of the aetiology of the intellectual disabilities, seizures and the underlying brain malformation may be of psychological...... value for the family, and it is essential for proper genetic counselling. The human brain is one of the most complex structures known, and probably many of the 25.000- 30.000 genes that comprise the human genome are involved in its development, which means that thousands of genes could be candidate...
Winfeld, Matthew J. [Perelman School of Medicine at the University of Pennsylvania, Department of Radiology, Musculoskeletal Division, Penn Medicine University City, Philadelphia, PA (United States); Otero, Hansel [Children' s National Medical Center, Department of Radiology, Washington, DC (United States)
Congenital and developmental malformations of the upper extremity are uncommon and their diagnosis can challenge radiologists. Many complex classification systems exist, the latest of which accounts for the complex embryology and pathogenetic mechanisms that govern the formation of these anomalies. Using appropriate descriptors allows for more specific diagnosis and improved consultation with referring pediatricians and surgeons, helping to guide medical and surgical interventions and, if indicated, further investigation for associated abnormalities and underlying syndromes. We review the imaging characteristics of upper limb malformations to help pediatric radiologists better understand the classification and workup necessary in these cases. (orig.)
The main congenital disorders observed were: cardiovascular system anomalies, musculoskeletal system, urogenital system, etc. During the investigation period, in the human population of Bacau county, 97 cases of newborns with chromosomal disorders were diagnosed (0.16% of the living newborns), while in Vaslui ...
Gómez-Alcalá, Alejandro V; Rascón-Pacheco, Ramón A
To evaluate the role that Mexico's National Health System (Sistema Nacional de Salud-SNS) has played in the task of reducing the number of deaths due to congenital malformations through a trends analysis of cause-specific infant mortality rates (IMRcs). Time-series analysis of deaths of boys and girls under 1 year of age from 1980-2005, according to databases of national and annual mortality maintained by the Secretariat of Health of Mexico. Cause-specific mortality rates were calculated for the most frequently occurring, severe, congenital malformations in Mexico: neural tube defects, diaphragmatic hernias, exomphalos (omphalocele and gastroschisis), and heart and digestive tract defects, grouped according to severity, degree of technological sophistication required for treatment, and most frequent outcome. From 1980-2005, the infant mortality rate in Mexico decreased from 40.7 to 16.9 per 1 000 births (beta = -0.86; P < 0.001); however, the mortality rate for congenital malformations rose from 2.2 to 3.5 per 1 000 births (beta = 0.05; P < 0.001). Only infantile hypertrophic pyloric stenosis and anorectal atresia, anomalies with good prognoses and treatments available in minimally-equipped facilities, exhibited downward trends in their IMRcs (beta = -0.01 to -0.09; P < 0.001); while malformations requiring immediate treatment in specialized facilities showed rising IMRcs (beta = 0.03 to 0.05; P < 0.001). The development of Mexico's SNS from 1980-2005 has not translated into a reduction of mortality from congenital malformations; this deficiency was more pronounced for anomalies that require immediate treatment and sophisticated technology.
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.
Boes Aaron D
Full Text Available Abstract Background A detailed behavioral profile associated with focal congenital malformation of the ventromedial prefrontal cortex (vmPFC has not been reported previously. Here we describe a 14 year-old boy, B.W., with neurological and psychiatric sequelae stemming from focal cortical malformation of the left vmPFC. Case Presentation B.W.'s behavior has been characterized through extensive review Patience of clinical and personal records along with behavioral and neuropsychological testing. A central feature of the behavioral profile is severe antisocial behavior. He is aggressive, manipulative, and callous; features consistent with psychopathy. Other problems include: egocentricity, impulsivity, hyperactivity, lack of empathy, lack of respect for authority, impaired moral judgment, an inability to plan ahead, and poor frustration tolerance. Conclusions The vmPFC has a profound contribution to the development of human prosocial behavior. B.W. demonstrates how a congenital lesion to this cortical region severely disrupts this process.
Sun, Yuelian; Wu, Chun Sen; Arah, Onyebuchi A
PURPOSE: Cancer and birth defects cluster in families more often than expected by chance, but the reasons are neither well known nor well studied. METHODS: From singletons born alive in Denmark between 1 January 1977 and 31 December 2007, we identified children who had no congenital malformations...... but had a full or half sibling with a congenital malformation (CM) diagnosed in the first year of life; this constituted the exposed group, while children whose siblings had no such condition constituted a reference group. We estimated cancer risks for children who had a full sibling or a half sibling...... with a CM using a Cox proportional hazards regression model. To control for confounding related to change of family structure, we estimated cancer risks for children from core families and children from broken families separately. Children were followed from birth up to 30 years of age (median follow-up 13...
Full Text Available We studied clinical and EEG features of 36 cases with congenital malformations of the CNS. Patients were followed at the outpatient clinic of Hospital Cayetano Heredia and of Hogar Clinica San Juan de Dios in Lima-Peru, from January 1984 to June 1992. Eighty percent of the patients had convulsive syndromes and mental retardation. The most frequent malformation was agenesis of corpus callosum, and it was not possible to find a "typical" EEG pattern. The second were porencephalic cysts, with a good clinical-EEG correlation. There were two typical cases of schizencephaly, one of hemimegalencephaly with good prognosis, and one of holoprosencephaly. The results are compared to those obtained for a series we previously reported. Data discussed take into account reports on the subject registered in the literature. It is concluded that EEG is an useful method to evaluate possible CNS malformations in developing countries.
Rosana Alves de Melo; Flávia Emília Cavalcante Valença Fernandes; Ana Kariny Costa Araújo; Nadja Maria dos Santos; Maria Elda Alves de Lacerda Campos; Priscylla Helena Alencar Falcão Sobral; Vitória de Barros Siqueira; Roseane da Silva Lemos; Saulo Bezerra Xavier; Alana Mirelle Coelho Leite; Rachel Mola; Luciana Pessoa Maciel; Roberto Luis Pereira dos Santos; Lusineide Carmo Andrade de Lacerda; Gerlene Grudka Lira
Objective: To evaluate the neonatal morbidity due to congenital malformations in the city of Petrolina-PE, from 2008 to 2013. Methods: A descriptive study with data from the Information System on Live Births (Sinasc). The analyzes were carried out through frequency distribution and measures of central tendency and dispersion. The associations were tested by the Pearson and Kruskal Wallis chi-square tests. Significance was set at 5% and 95% confidence. Results: 436 cases of congenita...
Aritana Pereira Ramos; Maria Nice Dutra de Oliveira; Jefferson Paixão Cardoso
The study aimmed to estimate the predominance of congenital malformations in newborns of the Public Hospital in the Jequié city, Brazil. It was utilized spring of secondary facts, from the fact-gathering of available manuals in the Service of Medical Files of the hospital, in the period of January of 2005 to December of 2006. It was utilized instrument of collection standardized where information about characteristics they were collected of the mother, general characteristics of the newborn...
Trevisan, Patrícia; Rosa, Rafael Fabiano M; Koshiyama, Dayane Bohn; Zen, Tatiana Diehl; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo G
To review the relationship between congenital heart defects and chromosomal abnormalities detected by the karyotype. 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. 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. 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.
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.
Joshi, Avinash V; Gupta, Rahul K; Shah, Hemanshi; Parelkar, Sandesh; Gupta, Abhaya; Jadhav, Vinay
Congenital lymphatic malformations of the genitourinary tract are rare. A 2-day-old male child who presented with congenital scrotal swelling extending into the penile shaft was investigated and successfully treated with complete excision. We report this unusual case of congenital scrotal lymphatic malformation with absent corpora cavernosa for its rarity, which is not yet discussed in the medical literature.
... Artery Disease Venous Thromboembolism Aortic Aneurysm More Genetic Counseling for Congenital Heart Defects Updated:Jan 19,2018 ... with congenital heart disease considers having children. Genetic counseling can help answer these questions and address your ...
Diseth, Trond H; Emblem, Ragnhild
Surgical congenital malformations often represent years of treatment, large number of hospital stays, treatment procedures, and long-term functional sequels affecting patients' psychosocial functioning. Both functional defects and psychosocial difficulties that occur commonly in childhood may pass through adolescence on to adulthood. This overview presents reports published over the past 3 decades to elucidate the long-term psychosocial consequences of surgical congenital malformations. Literature searches conducted on PubMed database revealed that less than 1% of all the records of surgical congenital malformations described long-term psychosocial consequences, but with diverse findings. This inconsistency may be due to methodological differences or deficiencies; especially in study design, patient sampling, and methods. Most of the studies revealed that the functional deficits may have great impact on patients' mental health, psychosocial functioning, and QoL; both short- and long-term negative consequences. Factors other than functional problems, e.g., repeated anesthesia, multiple hospitalization, traumatic treatment procedures, and parental dysfunctioning, may also predict long-term mental health and psychosocial functioning. Through multidisciplinary approach, pediatric surgeons should also be aware of deficits in emotional and psychosocial functioning. To achieve overall optimal psychosocial functioning, the challenge is to find a compromise between physically optimal treatment procedures and procedures that are not psychologically detrimental. Copyright © 2017. Published by Elsevier Inc.
azam Mohsenzadeh; sasan saket; shokofeh Ahmadipour; babak Baharvand
Background: Congenital heart disease is the most common congenital malformations in newborns. The aim of this study was to determine the prevalence and types of congenital heart disease in babies born in the city of Khorramabad. Materials and Methods: The present study was a descriptive cross-sectional. Sampling method was census. All babies born in the city of Khorramabad from 2007 to 2011, whom their first echocardiogram was diagnosed with congenital heart disease, were studied. The stud...
Vincent, Robert; Wegner, Inge; Derks, Laura S M; Grolman, Wilko
OBJECTIVES/HYPOTHESIS: To prospectively evaluate surgical findings and hearing results in children undergoing surgery for congenital oval or round window malformations (class IV malformations). STUDY DESIGN: A nonrandomized, nonblinded, case series of prospectively collected data. METHODS: Fourteen
Nakao, Atsushi; Takeda, Tomohiro; Hisaeda, Yoshiya; Hirota, Atsushi; Amagata, Syusuke; Sakurai, Yuko; Kawakami, Tadashi
Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus). Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceride -enriched formula. This is the first case of pancreatic agenesis with both malformations where the patient is discharged from the hospital. Early diagnosis and adequate treatments to compensate pancreatic function may prevent mortality and improve growth.
Full Text Available Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus. Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceride -enriched formula. This is the first case of pancreatic agenesis with both malformations where the patient is discharged from the hospital. Early diagnosis and adequate treatments to compensate pancreatic function may prevent mortality and improve growth.
Andjenie Madhuban MD
Full Text Available The authors report the case of a neonate presenting with signs of a congenital cardiac disease. Echocardiography showed a structural normal heart, right-to-left ductal flow, a dilated superior caval vein, and reversed diastolic flow in the proximal descending aorta. Brain magnetic resonance imaging showed a vein of Galen arteriovenous malformation. This highlights the importance of considering an intracranial cause in the differential diagnosis of neonatal congestive heart failure.
van Velzen, C. L.; Clur, S. A.; Rijlaarsdam, Meb; Bax, C. J.; Pajkrt, E.; Heymans, M. W.; Bekker, M. N.; Hruda, J.; de Groot, Cjm; Blom, N. A.; Haak, M. C.
ObjectiveCongenital heart disease (CHD) is the most common congenital malformation and causes major morbidity and mortality. Prenatal detection improves the neonatal condition before surgery, resulting in less morbidity and mortality. In the Netherlands a national prenatal screening programme was
Carlson, Steven K; Patel, Akash R; Chang, Philip M
Bradyarrhythmias in adults with congenital heart disease (CHD) comprise a complex group of arrhythmia disorders with congenital and acquired origins, highly variable long-term sequelae, and complicated treatment options. They can develop across the spectrum of CHD defects and can be encountered at all ages. Although permanent pacing is effective in treating bradyarrhythmias, it is associated with many complications and morbidity, where it is often used early in life. This section discusses the incidence and prevalence of bradyarrhythmias in the CHD population, their timing of occurrence with respect to specific disease entities and interventions, and their short- and long-term clinical sequelae. Copyright © 2017 Elsevier Inc. All rights reserved.
М. О. Makarova
Full Text Available Congenital gastrointestinal (GI malformations make up 21–25 % of all congenital anomalies and require surgical correction in the neonatal period. The aim was to analyze the methods of operative treatment of hard composite congenital gastrointestinal malformations in infants. Materials and Methods: There were 13 newborns with gastroschisis, omphalocele and esophageal atresia combined with intestinal atresia, anal atresia and also with congenital heart defects in our study. Results. We have designed new preoperative care strategies for the newborns. All combined GI defects were corrected in one step. In gastroschisis and omphalocele in combination with small intestine atresia we made a plastic of anterior abdominal wall, bowel segment resection and anastomosis end-to-end. In esophageal atresia and atresia of the anus direct esophago-esophagoanastomosis was applied with suturing of tracheoesophageal fistula, also in two patients proctoplasty by Pena 2 was carried out, and in one patient with high anal atresia colostomy was applied, which was closed in the age of 6 months. In case of esophageal atresia combined with small intestine atresia direct esophago-esophagoanastomosis with tracheoesophageal fistula suturing was carried out, and resection of the bowel segment with anastomosis end-to-end was applied. In a patient with a combination of esophageal atresia and duodenal obstruction esophagoplasty and closure of tracheoesophageal fistula with anastomosis by Kimur was made. Preference was given to the combined anesthesia with neuraxial blockade. Postoperative care included prolonged artificial lung ventilation, anesthesia, parenteral nutrition, antibacterial and antifungal medicines. Conclusions. One-step correction of the congenital GI malformations in newborns is effective and it gives opportunity to achieve the best results with a single surgical intervention. Extremely important links of the combined GI defects therapy is timely and balanced
Ramin Mozafari Kermani
Full Text Available Background: Multiple pregnancies occur more frequently in assisted reproductive technology (ART compared to normal conception (NC. It is known that the risk of congenital malformations in a multiple pregnancy are higher than single pregnancy. The aim of this study is to compare congenital malformations in singleton infants conceived by ART to singleton infants conceived naturally. Materials and Methods: In this historical cohort study, we performed a historical cohort study of major congenital malformations (MCM in 820 singleton births from January 2012 to December 2014. The data for this analysis were derived from Tehran’s ART linked data file. The risk of congenital malformations was compared in 164 ART infants and 656 NC infants. We performed multiple logistic regression analyses for the independent association of ART on each outcome. Results: We found 40 infants with MCM 29 (4.4% NC infants and 14 (8.3% ART infants. In comparison with NC infants, ART infants had a significant 2-fold increased risk of MCM (P=0.046. After adjusting individually for maternal age, infant gender, prior stillbirth, mother’s history of spontaneous abortion, and type of delivery, we did not find any difference in risk. In this study the majority (95.1% of all infants were normal but 4.9% of infants had at least one MCM. We found a difference in risk of MCMs between in vitro fertilization (IVF and intracytoplasmic sperm injection (ICSI. We excluded the possible role of genotype and other unknown factors in causing more malformations in ART infants. Conclusion: This study reported a higher risk of MCMs in ART singleton infants than in NC singleton infants. Congenital heart disease, developmental dysplasia of the hip (DDH, and urogenital malformations were the most reported major malformations in singleton ART infants according to organ and system classification.
Pereira Albino, J
Congenital vascular malformations are part of the rare diseases of angiology and vascular surgery and can present in a variety of forms. They rise a lot of doubts and many diagnostic and therapeutic challenges. Treatment options are widely variable and often debated; surgeons usually have doubts about the best procedure to adopt. It is also an area of great anatomic and functional variability where the confusion regarding the nomenclature and classifications has been frequent, rendering difficult to adopt standardized measures. There have been significant advances in the recent years towards reaching a consensus. Based on his practical clinical experience and past work on these issues, the author reviews the epidemiology, the classifications and the therapeutic basis of this pathology. The author emphasizes the fact that the International Society for the Study of Vascular Anomalies (ISSVA) classification provides a useful framework for classifying vascular anomalies, as well as the therapeutic percutaneous embolization using polidocanol foam to control venous malformations.
Aritana Pereira Ramos
Full Text Available The study aimmed to estimate the predominance of congenital malformations in newborns of the Public Hospital in the Jequié city, Brazil. It was utilized spring of secondary facts, from the factgathering of available manuals in the Service of Medical Files of the hospital, in the period of January of 2005 to December of 2006. It was utilized instrument of collection standardized where information about characteristics they were collected of the mother, general characteristics of the newborn and bad-congenital formation. The results show predominance of 3.1% of born infants been with evil congenital formation. Among these, it prevailed the of the male sex (64,0%, premature (56,7% of normal birth (56,7%, with adequate weight (70,0%, classified in the majority of isolated form (76,7%, of smaller clinical importance (63,0% and evolving for high hospital with 60.0% of the cases; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system, however this pathology next to of the osteomuscular system. The majority of the mothers had between 17 and 24 years (46,7%, carried out more of seven consults prenatal (30,0% and live in the urban zone of the town (60,0%; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system. Those finds are compatible with others finds described in the Brazilian scientific literature, what is going to reflect about the implementation of public politics with infrastructure qualified service implementation in the perspective of prevention, detection and cares of those individuals in all of the levels of the net of health.
Aritana Pereira Ramos
Full Text Available The study aimmed to estimate the predominance of congenital malformations in newborns of the Public Hospital in the Jequié city, Brazil. It was utilized spring of secondary facts, from the fact-gathering of available manuals in the Service of Medical Files of the hospital, in the period of January of 2005 to December of 2006. It was utilized instrument of collection standardized where information about characteristics they were collected of the mother, general characteristics of the newborn and bad-congenital formation. The results show predominance of 3.1% of born infants been with evil-congenital formation. Among these, it prevailed the of the male sex (64,0%, premature (56,7% of normal birth (56,7%, with adequate weight (70,0%, classified in the majority of isolated form (76,7%, of smaller clinical importance (63,0% and evolving for high hospital with 60.0% of the cases; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system, however this pathology next to of the osteomuscular system. The majority of the mothers had between 17 and 24 years (46,7%, carried out more of seven consults prenatal (30,0% and live in the urban zone of the town (60,0%; 71.0% of the deaths occurred between the newborns were due to specific malformations of the nervous system. Those finds are compatible with others finds described in the Brazilian scientific literature, what is going to reflect about the implementation of public politics with infrastructure qualified service implementation in the perspective of prevention, detection and cares of those individuals in all of the levels of the net of health.
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.
Sin Weon Yun
Full Text Available Although antenatal diagnostic technique has considerably improved, precise detection and proper management of the neonate with congenital heart disease (CHD is always a great concern to pediatricians. Congenital cardiac malformations vary from benign to serious conditions such as complete transposition of the great arteries (TGA, critical pulmonary and aortic valvular stenosis/atresia, hypoplastic left heart syndrome (HLHS, obstructed total anomalous pulmonary venous return (TAPVR, which the baby needs immediate diagnosis and management for survival. Unfortunately, these life threatening heart diseases may not have obvious evidence early after birth, most of the clinical and physical findings are nonspecific and vague, which makes the diagnosis difficult. High index of suspicion and astute acumen are essential to decision making. When patent ductus arteriosus (PDA is opened widely, many serious malformations may not be noticed easily in the early life, but would progress as severe acidosis/shock/cyanosis or even death as PDA constricts after few hours to days. Ductus dependent congenital cardiac lesions can be divided into the ductus dependent systemic or pulmonary disease, but physiologically quite different from each other and treatment strategy has to be tailored to the clinical status and cardiac malformations. Inevitably early presentation is often regarded as a medical emergency. Differential diagnosis with inborn error metabolic disorders, neonatal sepsis, persistent pulmonary hypertension of the newborn (PPHN and other pulmonary conditions are necessary. Urgent identification of the newborn at such high risk requires timely referral to a pediatric cardiologist, and timely intervention is the key in reducing mortality and morbidity. This following review deals with the clinical presentations, investigative modalities and approach to management of congenital cardiac malformations presenting in the early life.
Bassareo, Pier Paolo; Neroni, Paola; Montis, Sabrina; Tumbarello, Roberto
Abstract Introduction Morgagni's congenital diaphragmatic defect is a rare malformation, the diagnosis of which, as in our case report, may be problematic. To the best of our knowledge, this is the first report of this kind of hernia presenting with signs and symptoms of severe cardiac malformation. Case presentation We report the case of a three-month-old Caucasian baby boy, who presented with heart failure and severe pulmonary hypertension. Compression of the heart by a bowel loop in the ch...
Judge, Pavan; Meckler Mshs, Garth
Congenital heart disease is the most common form of all congenital malformations and, despite advances in prenatal and newborn screening, it may present undiagnosed to the emergency department. Signs and symptoms of congenital heart disease are variable and often nonspecific, making recognition and treatment challenging. Patient presentations can range from life-threatening shock or cyanosis in a neonate to respiratory distress or failure to thrive in infants. Advances in surgical techniques have improved short- and long-term survival of infants and children with congenital heart disease, but these children are at risk for a variety of complications related to the underlying or surgical anatomy and physiology. This review focuses on the recognition and initial management of patients with undiagnosed congenital heart disease presenting to the ED and touches on considerations for postoperative infants and children with complex congenital heart disease.
Tarp, Julie Bjerre; Jensen, Annette Schophuus; Engstrøm, Thomas
Improved treatment options in paediatric cardiology and congenital heart surgery have resulted in an ageing population of patients with cyanotic congenital heart disease (CCHD). The risk of acquired heart disease such as atherosclerosis increases with age.Previous studies have speculated whether...
Ko, Jung Min
Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy a...
Martínez-Quintana, Efrén; Rodríguez-González, Fayna
Hyperuricaemia is associated with traditional cardiovascular risk factors such as type 2 diabetes or dyslipidaemia and a higher mortality. Out of 528 congenital heart disease patients, 329 patients, including 190 male and 139 female patients, in whom uric acid determination was performed, were studied and followed up to determine survival. Male congenital heart disease patients with high serum uric acid concentrations (>7 mg/dl) showed significantly (p congenital heart disease patients with lower serum uric acid levels (≤7 mg/dl). Meanwhile, female congenital heart disease patients with higher serum uric acid concentrations (>5.7 mg/dl) were significantly (p congenital heart disease patients with lower serum uric acid concentrations (≤5.7 mg/dl). During a median follow-up of 90 months, 16 out of 528 congenital heart disease patients died - 14 patients of cardiac origin and two patients of non-cardiac origin - of whom 10 were hypoxaemic. Kaplan-Meier analysis showed no significant differences in mortality between male and female congenital heart disease patients with high and low serum uric acid level concentrations. Hypoxaemia, body mass index, and C-reactive protein concentrations are higher in hyperuricaemic congenital heart disease patients, although no significant differences were seen in mortality between congenital heart disease patients with high and low serum uric acid concentrations.
Mavroudis, Constantine; Williams, William G
The Congenital Heart Surgeons' Society is a group of over 100 pediatric heart surgeons representing 72 institutions that specialize in the treatment of patients with congenital heart defects. The Society began in 1972 and incorporated as a not-for-profit charitable organization in 2004. It has become the face and voice of congenital heart surgery in North America. In 1985, the Society established a data center for multicenter clinical research studies to encourage congenital heart professionals to participate in improving outcomes for our patients. The goals of the Congenital Heart Surgeons' Society are to stimulate the study of congenital cardiac physiology, pathology, and management options which are instantiated in data collection, multi-institutional studies, and scientific meetings. Honest and open discussion of problems with possible solutions to the challenges facing congenital heart professionals have been the strength of the Congenital Heart Surgeons' Society. It is imperative for the growth of an organization to know from where it came in order to know to where it is going. The purpose of this article is to review the history of the Congenital Heart Surgeons' Society. © The Author(s) 2015.
Olsen, Morten; Videbæk, Jørgen; Johnsen, Søren Paaske
Congenital heart defects (CHD) constitute the largest group of congenital defects with a prevalence at birth of 5-11 per 1000 live births, and the population of adults with CHD is increasing. However, few population-based long-term outcome data exist. The Danish Register of Congenital Heart Disease holds data on patients diagnosed with CHD since 1963 and patients below 25 years of age with other types of heart disease. Overall and defect specific validation is ongoing. Together with other Danish registers, the Danish Register of Congenital Heart Disease provides extensive research possibilities.
Sun, Xiaowei; Ding, Yuanping; Zhang, Jianji; Chen, Ying; Xu, Anting; Dou, Fenfen; Zhang, Zihe
To observe the inner ear structure with volume rendering (VR) reconstruction and to evaluate the role of high-resolution computed tomography (HRCT) in congenital inner ear malformations. HRCT scanning was performed in 10 patients (20 ears) without ear disease (control group) and 7 patients (11 ears) with inner ear malformations (IEM group) and the original data was processed with VR reconstruction. The inner ear osseous labyrinth structure in the images generated by these techniques was observed respectively in the normal ears and malformation ears. The inner ear osseous labyrinth structure and the relationship was displayed clearly in VR imaging in the control group,meanwhile, characters and degree of malformed structure were also displayed clearly in the IEA group. Of seven patients (11 ears) with congenital inner ear malformations, the axial, MPR and VR images can display the site and degree in 9 ears. VR images were superior to the axial images in displaying the malformations in 2 ears with the small lateral semicircular canal malformations. The malformations included Mondini deformity (7 ears), vestibular and semicircular canal malformations (3 ears), vestibular aqueduct dilate (7 ears, of which 6 ears accompanied by other malformations) , the internal auditory canal malformation (2 ears, all accompanied by other malformations). HRCT can display the normal structure of bone inner ear through high quality VR reconstructions. VR images can also display the site and degree of the malformations three-dimensionally and intuitively. HRCT is valuable in diagnosing the inner ear malformation.
Burchill, Luke J
Heart failure (HF) in adult congenital heart disease (ACHD) is vastly different to that observed in acquired heart disease. Unlike acquired HF in which pharmacological strategies are the cornerstone for protecting and improving ventricular function, ACHD-related HF relies heavily upon structural and other interventions to achieve these aims. patients with ACHD constitute a small percentage of the total adult heart transplant population (∼3%), although the number of ACHD heart transplant recipients is growing rapidly with a 40% increase over the last two decades. The worldwide experience to date has confirmed heart transplantation as an effective life-extending treatment option in carefully selected patients with ACHD with end-stage cardiac disease. Opportunities for improving outcomes in patients with ACHD-related HF include (i) earlier recognition and referral to centres with combined expertise in ACHD and HF, (ii) increased awareness of arrhythmia and sudden cardiac death risk in this population, (iii) greater collaboration between HF and ACHD specialists at the time of heart transplant assessment, (iv) expert surgical planning to reduce ischaemic time and bleeding risk at the time of transplant, (v) tailored immunosuppression in the post-transplant period and (vi) development and validation of ACHD-specific risk scores to predict mortality and guide patient selection. The purpose of this article is to review current approaches to diagnosing and treating advanced HF in patients with ACHD including indications, contraindications and clinical outcomes after heart transplantation. 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/.
Small, Katherine; Ginsburg, Howard; Greco, M Alba; Sarita-Reyes, Carmen; Kupchik, Gabriel; Blei, Francine
Consanguinity allows for the expression of rare genetic disorders. We present the first case of an infant, born to consanguineous parents, with congenital lamellar ichthyosis, congenital lymphatic malformation, congenital hypothyroidism, bilateral megaureter, benign external hydrocephalus, and syrinx of the spinal cord. We review the disorders, examine their genetic causes, and explore the genetic connection among them.
Zomer, A. C.; Verheugt, C. L.; Vaartjes, I.; Uiterwaal, C. S. P. M.; Langemeijer, M. M.; Koolbergen, D. R.; Hazekamp, M. G.; van Melle, J. P.; Konings, T. C.; Bellersen, L.; Grobbee, D. E.; Mulder, B. J. M.
A significant proportion of patients with congenital heart disease require surgery in adulthood. We aimed to give an overview of the prevalence, distribution, and outcome of cardiovascular surgery for congenital heart disease. We specifically questioned whether the effects of surgical treatment on
van der Bom, Teun; Zomer, A. Carla; Zwinderman, Aeilko H.; Meijboom, Folkert J.; Bouma, Berto J.; Mulder, Barbara J. M.
Congenital heart disease is the most common congenital disorder in newborns. Advances in cardiovascular medicine and surgery have enabled most patients to reach adulthood. Unfortunately, prolonged survival has been achieved at a cost, as many patients suffer late complications, of which heart
Bougle, D; Iselin, M; Kahyat, A; Duhamel, J F
Twelve of 13 patients with congenital heart disease given continuous enteral nutrition displayed normal growth; cardiac function remained stable or improved in 10 in spite of the water load (146 +/- 22 ml/kg/day). This is safe treatment for malnutrition in congenital heart disease.
Verheugt, Carianne L.; Uiterwaal, Cuno S. P. M.; van der Velde, Enno T.; Meijboom, Folkert J.; Pieper, Petronella G.; van Dijk, Arie P. J.; Vliegen, Hubert W.; Grobbee, Diederick E.; Mulder, Barbara J. M.
Mortality in adults with congenital heart disease is known to be increased, yet its extent and the major mortality risks are unclear. The Dutch CONCOR national registry for adult congenital heart disease was linked to the national mortality registry. Cox's regression was used to assess mortality
Houyel, Lucile; To-Dumortier, Ngoc-Tram; Lepers, Yannick; Petit, Jérôme; Roussin, Régine; Ly, Mohamed; Lebret, Emmanuel; Fadel, Elie; Hörer, Jürgen; Hascoët, Sébastien
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.
Cuypers, Judith A A E; Utens, Elisabeth M W J; Roos-Hesselink, Jolien W
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.
Full Text Available Congenital heart defects are among the most frequent anomalies present at birth, representing a heterogeneous group of malformations, both in terms of pathogenesis and clinical significance of the lesion. Failure to grow is well documented in infants with complex congenital heart defects; the presence of associated chromosomal abnormalities, cyanosis, and cardiac failure adds to the complexity and challenge. Malnutrition etiology can be grouped into the following three categories: inadequate intake, inefficient absorption and utilization, and/or increased energy needs. The consequences of malnutrition are both short and long term, timely nutritional intervention being necessary in order to maintain an adequate nutritional state. Because there are several types of congenital heart defects and multiple mechanisms by which they produce failure to thrive, no single strategy will be adequate to treat all cases. Medical complications such as chylotorax, necrotizing enterocolitis, laryngeal and neurological dysfunction play a major role in the requisite nutrition therapy in infants with congenital heart defect; limited access to human milk and parenteral concerns, as well as stress about feeding are also factors that can contribute to poor outcomes concerning nutrition and growth. Protocols are being considered and designed, and a systematic approach is always needed. The quality of life for patient and family, as well as getting the child back on track for age-appropriate development are always at the fore-front of each care plan.
Ykeda, Daisy Satomi; Lorenzi-Filho, Geraldo; Lopes, Antonio A B; Alves, Rosana S C
To investigate hypoxia and sleep disordered breathing in infants with congenital heart disease. Prospective study. In-hospital full polysomnography was performed on 14 infants with congenital heart disease, age 7 +/-1 months, and in 7 normal infants, age 10 +/-2 months. Congenital heart disease infants were classified as acyanotic (n=7) or cyanotic (n=7). Nutritional status, assessed by the Gomez classification and expressed as % weight for age, was 70 +/-7, 59 +/-11 and 94 +/-16 in the acyanotic, cyanotic congenital heart disease and control infants, respectively (pcongenital heart disease infants (11 out of 14) and only one control infant had an AHI >1 event/hour. The minimum oxygen saturation was 79% (74-82), 73% (57-74) and 90% (90-91) in the acyanotic, cyanotic congenital heart disease infants and controls, respectively (p congenital heart disease frequently present with sleep-disordered breathing associated with oxygen desaturations but not arousals. Therefore, sleep may represent a significant burden to infants with congenital heart disease.
Ávila, Pablo; Mercier, Lise-Andrée; Dore, Annie; Marcotte, François; Mongeon, François-Pierre; Ibrahim, Reda; Asgar, Anita; Miro, Joaquim; Andelfinger, Gregor; Mondésert, Blandine; de Guise, Pierre; Poirier, Nancy; Khairy, Paul
Medical and surgical breakthroughs in the care of children born with heart defects have generated a growing population of adult survivors and spawned a new subspecialty of cardiology: adult congenital heart disease. The prevalence of adult congenital heart disease is escalating at a rampant rate, outpacing the relatively static prevalence of pediatric congenital heart disease, because adults now surpass children in numbers by a ratio of 2:1. As such, congenital heart disease can no longer be considered primarily a pediatric specialty. Most congenital heart defects are not curable and require lifelong specialized care. Health care systems worldwide are challenged to meet the unique needs of this increasingly complex patient population, including the development of supraregional centres of excellence to provide comprehensive and multidisciplinary specialized care. In this review, we explore the incidence and prevalence of congenital heart disease and their changing patterns, address organization and delivery of care, highlight the importance of appropriate training and dedicated research, summarize the high burden of health care resource utilization, and provide an overview of common issues encountered in adults with congenital heart disease. Copyright © 2014 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.
Kongstad, Thomas; Buchvald, Frederik; Brenøe, Jørn
The aim of this study was to evaluate the safety and short-term outcome of our management of asymptomatic children with antenatally diagnosed congenital thoracic malformations (CTM), compared with recommendations from a recent review and meta-analysis....
Meijer-Jorna, Lorine B.; van der Loos, Chris M.; de Boer, Onno J.; van der Horst, Chantal M. A. M.; van der Wal, Allard C.
BACKGROUND: Congenital vascular malformations (VMs) are mass-forming lesions that usually progress slowly, but may become symptomatic because of episodes of sudden growth and pain, particularly those with a substantial component of arteriovenous shunting. AIM: To systematically investigate the
Rosana Cardoso Manique Rosa
Full Text Available FUNDAMENTO: Malformações extracardíacas podem estar presentes em pacientes com cardiopatia congênita (CC, trazendo maior risco de comorbidade e mortalidade. OBJETIVO: Verificar a frequência e os tipos de anormalidades abdominais detectadas em crianças com e sem CC através do ultrassom abdominal (USA, comparar os pacientes quanto a seus achados dismórficos/citogenéticos e realizar uma estimativa do custo-benefício da triagem pelo USA. MÉTODOS: Foi realizado um estudo transversal com controle. Os casos consistiram de pacientes com CC admitidos pela primeira vez em uma unidade de terapia intensiva pediátrica; os controles consistiram de crianças sem CC submetidas ao USA no hospital logo após cada caso. Todos os pacientes com CC foram submetidos ao USA, ao cariótipo de alta resolução e à hibridização in situ fluorescente (FISH para microdeleção 22q11.2. RESULTADOS: USA identificou anormalidades clinicamente significativas em 12,2% dos casos e em 5,2% dos controles (p = 0,009, com um poder de significância de 76,6%. A maioria das malformações com significado clínico foi de anomalias renais (10,4% nos casos e 4,9% nos controles, p = 0,034. No Brasil, o custo de um exame de USA pelo Sistema Único de Saúde é de 21 dólares. Uma vez que anormalidades clinicamente significativas foram observadas em um a cada 8,2 pacientes com CC, o custo para identificar uma criança afetada foi de 176 dólares. CONCLUSÃO: Pacientes com CC apresentam uma frequência significativa de anomalias detectadas pelo USA, um método diagnóstico barato e não invasivo, com boa sensibilidade. O custo da triagem para esses defeitos é consideravelmente menor que o custo para tratar as complicações do diagnóstico tardio de malformações abdominais, como a doença renal.BACKGROUND: Extracardiac malformations may be present in patients with congenital heart disease (CHD, bringing greater risk of comorbidity and mortality. OBJECTIVE: Verify frequency
Rosana Cardoso Manique Rosa
Full Text Available FUNDAMENTO: Malformações extracardíacas podem estar presentes em pacientes com cardiopatia congênita (CC, trazendo maior risco de comorbidade e mortalidade. OBJETIVO: Verificar a frequência e os tipos de anormalidades abdominais detectadas em crianças com e sem CC através do ultrassom abdominal (USA, comparar os pacientes quanto a seus achados dismórficos/citogenéticos e realizar uma estimativa do custo-benefício da triagem pelo USA. MÉTODOS: Foi realizado um estudo transversal com controle. Os casos consistiram de pacientes com CC admitidos pela primeira vez em uma unidade de terapia intensiva pediátrica; os controles consistiram de crianças sem CC submetidas ao USA no hospital logo após cada caso. Todos os pacientes com CC foram submetidos ao USA, ao cariótipo de alta resolução e à hibridização in situ fluorescente (FISH para microdeleção 22q11.2. RESULTADOS: USA identificou anormalidades clinicamente significativas em 12,2% dos casos e em 5,2% dos controles (p = 0,009, com um poder de significância de 76,6%. A maioria das malformações com significado clínico foi de anomalias renais (10,4% nos casos e 4,9% nos controles, p = 0,034. No Brasil, o custo de um exame de USA pelo Sistema Único de Saúde é de 21 dólares. Uma vez que anormalidades clinicamente significativas foram observadas em um a cada 8,2 pacientes com CC, o custo para identificar uma criança afetada foi de 176 dólares. CONCLUSÃO: Pacientes com CC apresentam uma frequência significativa de anomalias detectadas pelo USA, um método diagnóstico barato e não invasivo, com boa sensibilidade. O custo da triagem para esses defeitos é consideravelmente menor que o custo para tratar as complicações do diagnóstico tardio de malformações abdominais, como a doença renal.BACKGROUND: Extracardiac malformations may be present in patients with congenital heart disease (CHD, bringing greater risk of comorbidity and mortality. OBJECTIVE: Verify frequency
Santos, C.B.; Boy, R.T.; Santos, J.M.; Silva, M.P.S.; Pimentel, M.M.G.
We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Tu...
Persson, Martina; Cnattingius, Sven; Villamor, Eduardo; Söderling, Jonas; Pasternak, Björn; Stephansson, Olof; Neovius, Martin
Objective To estimate the risks of major congenital malformations in the offspring of mothers who are underweight (body mass index (BMI) obesity classes I (BMI 30 to maternal and pregnancy characteristics were obtained by individual record linkages.Exposure Maternal BMI at the first prenatal visit.Main outcome measures Offspring with any major congenital malformation, and subgroups of organ specific malformations diagnosed during the first year of life. Risk ratios were estimated using generalised linear models adjusted for maternal factors, sex of offspring, and birth year.Results A total of 43 550 (3.5%) offspring had any major congenital malformation, and the most common subgroup was for congenital heart defects (n=20 074; 1.6%). Compared with offspring of normal weight mothers (risk of malformations 3.4%), the proportions and adjusted risk ratios of any major congenital malformation among the offspring of mothers with higher BMI were: overweight, 3.5% and 1.05 (95% confidence interval 1.02 to 1.07); obesity class I, 3.8% and 1.12 (1.08 to 1.15), obesity class II, 4.2% and 1.23 (1.17 to 1.30), and obesity class III, 4.7% and 1.37 (1.26 to 1.49). The risks of congenital heart defects, malformations of the nervous system, and limb defects also progressively increased with BMI from overweight to obesity class III. The largest organ specific relative risks related to maternal overweight and increasing obesity were observed for malformations of the nervous system. Malformations of the genital and digestive systems were also increased in offspring of obese mothers.Conclusions Risks of any major congenital malformation and several subgroups of organ specific malformations progressively increased with maternal overweight and increasing severity of obesity. For women who are planning pregnancy, efforts should be encouraged to reduce adiposity in those with a BMI above the normal range. Published by the BMJ Publishing Group Limited. For permission to use (where
Langbroek, Ginger B.; Horbach, Sophie E. R.; van der Vleuten, Carine J. M.; Ubbink, Dirk T.; van der Horst, Chantal M. A. M.
Introduction Low-flow vascular malformations are congenital abnormalities of the veins, capillaries or lymphatic vessels or a combination of the previous. Compressive garments are frequently used as a first-line treatment option for low-flow vascular malformations of the extremities with the purpose
Wijers, Charlotte H. W.; van Rooij, Iris A. L. M.; Rassouli, Roxana; Wijnen, Marc H.; Broens, Paul M. A.; Sloots, Cornelius E. J.; Brunner, Han G.; De Blaauw, Ivo; Roeleveld, Nel
Background: Fertility treatment seems to play a role in the etiology of congenital anorectal malformations, but it is unclear whether the underlying parental subfertility, ovulation induction, or the treatment itself is involved. Therefore, we investigated the odds of anorectal malformations among
Damm, P; Mølsted-Pedersen, L
In an unselected and consecutive series of 1858 newborn infants of diabetic mothers, born in the Rigshospital, Copenhagen, in the period 1967 to 1986, congenital malformations were studied. The malformation rate in White Classes B to F was remarkably constant from 1967 to 1981, but a significant...
Castilla, Eduardo E; Orioli, Iêda M
ECLAMC ('Estudio Colaborativo Latino Americano de Malformaciones Congenitas') is a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Latin-American hospitals, using a case-control methodological approach. It is a voluntary agreement among professionals lacking institutional base as well as designated budgets. ECLAMC has been usually funded by research-funding agencies rather than public health ministries. The National Research Councils of Argentina and Brazil have been the main sources of support during its 36 years of existence. Since vital and health statistics are unreliable in South America, ECLAMC collects all the information required for the denominators in a hospital-based sample of births. ECLAMC can be defined as a continental network of persons interested in research and prevention of birth defects. From the institutional point of view, ECLAMC has had headquarters in diverse centers of Argentina and Brazil, but always as an independent research project, without a defined administrative link. ECLAMC began operating in 1967, as an investigation limited to the city of Buenos Aires, Argentina, and it gradually expanded until covering all the 10 countries of South America as well as Costa Rica and the Dominican Republic. Even though ECLAMC has maintained essentially the same original experimental design since 1967, due to the data accumulated by the program, the increasing experience as well as the development in science, technical modifications occurred including a DNA bank and a fully informatized data handling system. Since 1974 ECLAMC has been a founder member of the International Clearinghouse for Birth Defects Monitoring Systems; since 1994 a WHO Collaborating Center for the Prevention of Congenital Malformations, and since 2000 a collaborating member of the NIH Global Netwok for Women's and Children's Health Research. The maternity hospital network of ECLAMC examines around 200
Friesen, Robert H
The structural defects associated with the various forms of congenital heart disease lead to pathological and functional changes that place patients at risk for adverse events, and in fact the perioperative incidence of morbidity and mortality has been documented to be increased in children with congenital heart disease. Patients with congenital heart disease can present to the anesthesiologist in a relatively precarious state of balance of several hemodynamic factors, including preload, ventricular contractility, systemic vascular resistance, pulmonary vascular resistance, heart rate, and cardiac rhythm. Anesthetic drugs can affect each of these, and an ideal anesthetic drug for such patients does not exist. The purpose of this article is to review the hemodynamic effects of anesthetic drugs and how they may contribute to the occurrence of adverse events in children with congenital heart disease. © The Author(s) 2014.
Aubry, P; Demian, H
Gender influences the clinical presentation and the management of some acquired cardiovascular diseases, such as coronary artery disease, resulting in different outcomes. Differences between women and men are also noticed in congenital heart disease. They are mainly related to the prevalence and severity of some congenital heart defects at birth, and in adulthood to the prognosis, incidence of Eisenmenger syndrome and risks of pregnancy. The role of gender on the risk of operative mortality of congenital heart surgery remains debated. Copyright Â© 2016 Elsevier Masson SAS. All rights reserved.
Ellesøe, Sabrina G.; Workman, Christopher T.; Bouvagnet, Patrice
Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision...
Sørensen, Thomas Sangild; Beerbaum, Philipp; Mosegaard, Jesper
Careful preoperative planning is of outmost importance -- in particular when considering complex corrective surgery on congenitally malformed hearts. As an aid to such decisionsmaking we describe a system for virtual reconstruction of patient-specific morphology from 3D-capable imaging modalities...
Ellesøe, Sabrina G.; Workman, Christopher T.; Bouvagnet, Patrice; Loffredo, Christopher A.; McBride, Kim L.; Hinton, Robert B.; van Engelen, Klaartje; Gertsen, Emma C.; Mulder, Barbara J. M.; Postma, Alex V.; Anderson, Robert H.; Hjortdal, Vibeke E.; Brunak, Søren; Larsen, Lars A.
Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision-making,
J.A. Eindhoven (Jannet)
markdownabstract__Abstract__ Congenital heart disease (ConHD) is the most common congenital abnormality in newborns, with a birth prevalence of 9 per 1000 live births.2 ConHD comprises a number of cardiac abnormalities with varying aetiology which can be divided into simple, moderate and
Vaišnytė, Birutė; Vajauskas, Donatas; Palionis, Darius; Nevidomskytė, Daiva; Misonis, Nerijus; Bilkis, Valdas; Sučila, Mykolas; Gutauskas, Marijus
Extracranial congenital arteriovenous malformations (AVMs) are rare clinical entities that can be progressive in nature. The influence of pregnancy on lesion progression has been discussed in the past. This report presents an unusual case of 23-year-old primigravida woman who presented at 36 weeks' gestation with complicated necrotic ulceration and hemorrhage of the right gluteal region. A hyperpigmented mark with varicosities was initially noted at birth, but during pregnancy it showed remarkable progression and was first identified as an AVM. After hemorrhage control and induced delivery, the lesion was successfully treated with several embolizations. Complete wound healing was achieved, but because of partial recurrence at 3 years, repeat embolization was performed, with satisfactory clinical improvement and residual 25% arteriovenous shunting on transarterial lung perfusion scintigraphy study. AVM complications during pregnancy are uncommon, and this case supports the prior opinion that pregnancy can stimulate lesion progression. Especially in undiagnosed and previously untreated cases, this can lead to life-threatening complications for the mother and fetus. Long-term lesion management usually requires combined endovascular and surgical treatment. Copyright © 2013 Elsevier Inc. All rights reserved.
Selimović, Amina; Hasanbegović, Edo; Mujičić, Ermina; Milišić, Selma; Haxhija, Emir; Karavdić, Kenan; Pilav, Alen
Aim The aim was to show rare cases of congenital cystic adenomatoid malformation (CCAM) and the manner of its surgical treatment with video-assisted thoracoscopic surgery (VATS). Methods Two male and one female child, 7, 4 and 3 years of age were treated for symptoms of cough and high temperature in district hospitals. In all three children laboratory blood tests and chest radiography were done. Auscultatory findings showed the presence of pneumonia. Children were treated with appropriate doses of antibiotics. After the rehabilitation of inflammation, they were sent to the University Clinical Center Sarajevo, where video-assisted thoracoscopic lobectomy (VATS) was indicated after computerized tomography (CT). Results Chest CT scan pointed to the CCAM and pulmonary sequestration (PS) changes to the lungs. This has required surgery lobectomy of an affected part of the lungs. In two children with PS, the aberrant systemic artery came from the most proximal part of aorta abdominals, the third patient did not have an anomalous artery. Conclusion VATS lobectomy is an alternative to the traditional thoracotomy for the treatment of CCAM and PS, however, it should be investigated in the future for its safety and effectiveness. Copyright© by the Medical Assotiation of Zenica-Doboj Canton.
Ma, Hui; Han, Ping; Liang, Bo; Liu, Fang; Tian, Zhi-Liang; Lei, Zi-Qiao; Li, You-Lin; Kong, Wei-Jia
To evaluate the feasibility and usability of multi-slice computed tomography (MSCT) in congenital inner ear malformations. Fourty-four patients with sensorineural hearing loss (SNHL) were examined by a Somatom Sensation 16 (siemens, Germany) CT scanner with following parameters: 120 kV, 100 mAs, 0.75 mm collimation, 1 mm reconstruction increment, a pitch factor of 1 and a field of view of 100 mm. The axial images of interested ears were reconstructed with 0.1 mm reconstruction increment, and a field of view of 50 mm. The 3D reconstructions were done with volume rendering technique (VRT) on the workstation (3D Virtuoso and Wizard,siemens). Twenty-five patients were normal and 19 patients (36 ears) were congenital inner ear malformations among 44 patients scanned with MSCT. Of the malformations, all the axial, MPR and VRT images can display the site and degree in 33 ears. VRT images were superior to the axial images in displaying the malformations in 3 ears with the small lateral semicircular canal malformations. The malformations were Michel deformity (1 ear), common cavity deformity (3 ears), incomplete partition I (3 ears), incomplete partition II (Mondini deformity, 5 ears), vestibular and semicircular canal malformations( 14 ears), vestibular aqueduct dilate( 16 ears, of which 6 ears accompanied by other malformations), the internal auditory canal malformation(8 ears, all accompanied by other malformations). MSCT allows a comprehensively assessing various congenital ear malformations through high quality MPR and VRT reconstructions. VRT images can display the site and degree of the malformations three-dimensionally and intuitionisticly. It is very useful to the cochlear implantation.
... Thromboembolism Aortic Aneurysm More Congenital Heart Defects and Physical Activity Updated:Sep 12,2017 Exercise Is for Everyone ... almost all patients do some form of regular physical activity. There are a few exceptions, so it's good ...
Khoury, Maurice; Harbieh, Bernard; Heriopian, Aline
To our knowledge, isolated dextrocardia in association with congenital complete atrioventricular heart block has not been previously reported. We report such a case, elaborate on the possible pathogenesis, and present our experience with management.
Pinto Júnior,Valdester Cavalcante; Branco,Klébia Magalhães P. Castello; Cavalcante,Rodrigo Cardoso; Carvalho Junior,Waldemiro; Lima,José Rubens Costa; Freitas,Sílvia Maria de; Fraga,Maria Nazaré de Oliveira; Souza,Nayana Maria Gomes de
AbstractIntroduction:Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007.Objective:To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes.Methods:The calculations of prevalence were performed by applying coefficients, giving them function rates for...
Thomseth, Vilde; Cejvanovic, Vanja; Jimenez-Solem, Espen
PURPOSE: To investigate whether exposure to topical chloramphenicol in the first trimester of pregnancy is associated with congenital malformations. METHODS: The authors conducted a nationwide cohort study including all women giving live birth between 1997 and 2011 in Denmark. All women redeeming...... included. A total of 6024 women were exposed to topical chloramphenicol in the first trimester. The rate of congenital malformations was 3.50% among offspring of exposed mothers and 3.49% among unexposed. Exposure to topical chloramphenicol in the first trimester was not associated with major congenital...
Bárcenas-Ibarra, Annelisse; de la Cueva, Horacio; Rojas-Lleonart, Isaias; Abreu-Grobois, F Alberto; Lozano-Guzmán, Rogelio Iván; Cuevas, Eduardo; García-Gasca, Alejandra
Congenital malformations in sea turtles have been considered sporadical. Research carried out in the Mexican Pacific revealed high levels of congenital malformations in the olive ridley, but little or no information is available for other species. We present results from analyses of external congenital malformations in olive ridley, green, and hawskbill sea turtles from Mexican rookeries on the Pacific coast and Gulf of Mexico. We examined 150 green and hawksbill nests and 209 olive ridley nests during the 2010 and 2012 nesting seasons, respectively. Olive ridley eggs were transferred to a hatchery and incubated in styrofoam boxes. Nests from the other two species were left in situ. Number of eggs, live and dead hatchlings, and eggs with or without embryonic development were registered. Malformation frequency was evaluated with indices of prevalence and severity. Mortality levels, prevalence and severity were higher in olive ridley than in hawksbill and green sea turtles. Sixty-three types of congenital malformations were observed in embryos, and dead or live hatchlings. Of these, 38 are new reports; 35 for wild sea turtles, three for vertebrates. Thirty-one types were found in hawksbill, 23 in green, and 59 in olive ridley. The head region showed a higher number of malformation types. Malformation levels in the olive ridley were higher than previously reported. Olive ridleys seem more prone to the occurrence of congenital malformations than the other two species. Whether the observed malformation levels are normal or represent a health problem cannot be currently ascertained without long-term assessments. © 2015 Wiley Periodicals, Inc.
Full Text Available Multiple exostoses are a rare disorder. It is estimated to occur in 1; 50,000 pregnancies. It presents within the first decade of life and it has an autosomal mode of inheritance; though it has been associated with a spontaneous mutation in 10% of cases. It is known as hereditary multiple exostoses, hereditary multiple osteochondromas, and to fit this diagnosis, there should be at two or more exostoses; usually, long bones of cartilaginous origin such as those of the extremities are mostly affected often sparing the face, these exostoses are osteochondromas arising close to the growth plate (metaphysis and epiphysis. This communication highlights the case of a 42-day-old female delivered at the 7th month gestational age to a nonconsanguineous family setting; she was admitted with the complaint of convulsions and poor suck; she was the second of a set of twin; the first twin was essentially healthy. There was no history of fever or difficulty of breathing. The delivery was at home and she was said to be small at birth, the birth weight was not measured, and cried poorly. On examination, she was wasted with a weight of 1.4 kg, and the length was 34 cm with an occipitofrontal circumference of 29 cm. The lower limbs were malformed with exostosis arising from both shins; she also had a ventricular septal defect.
Edward Araujo Júnior
Full Text Available Congenital heart disease is the most common fetal congenital malformations; however, the prenatal rate detection still is low. The two-dimensional echocardiography is the "gold standard" exam to screening and diagnosis of congenital heart disease during the prenatal; however, this exam is operator-depending and it is realized only in high risk pregnancies. Spatio-temporal image correlation is a three-dimensional ultrasound software that analyses the fetal heart and your connections in the multiplanar and rendering modes; however, spatio-temporal image correlation too is operator-depending and time-consuming. We presenting a new three-dimensional software named Sonocubic fine to the screening of congenital heart disease. This software applies intelligent navigation technology to spatio-temporal image correlation volume datasets to automatically generate nine fetal echocardiography standard views. Thus, this new software tends to be less operator-depending and time-consuming.
Full Text Available Aim: The veterinarian should be able to assess congenital and inherited malformations such as heart defects because they may be object of legal disputes. In this study, the authors report some cases of congenital heart defects in pets (dogs and cats to clarify whether or not they may be considered a redhibitory defect. Materials and Methods: A total of 28 medical records of pets referred with suspected congenital heart disease were examined. All patients aged between 3 and 24 months underwent clinical examination, chest X-ray examination, electrocardiogram, and echocardiography and angiocardiography when necessary. Results: Congenital heart diseases or associated cardiac malformations were confirmed. Considering the above congenital diseases as redhibitory defect and the rights of the owners from a strictly legal viewpoint, 9 owners demanded an estimatory action and 11 a redhibitory action; 1 owner decided to demand the reimbursement of veterinary expenses because the animal died; 7 owners took no legal action but requested surgical intervention. Conclusions: Until more appropriate and detailed legislation on the buying and selling of pet animals is put in place; the authors propose to include in the contract a temporal extension of the guarantee relating to congenital heart disease, which can often become evident later.
Nazer H, Julio; Cifuentes O, Lucía
The Latin American Study of Congenital Malformations (ECLAMC) has performed an epidemiological surveillance of congenital malformations since 1967. This allows to detect any unexpected change in the incidence of malformations, possibly caused by a new environmental teratogenic agent. To report a summary of the results thus far obtained in this study. The ECLAMC database was analyzed and all live births and stillbirths of more than 500 grams in the period 1995-2008, were analyzed. There were 2,409,407 births in the nine participant countries. Of these 31,516 (1.3%) were stillbirths. The global rate of congenital malformations in this sample was 2.7%. In the studied period, there was a significant reduction in the rates of anencephaly and spina bifida in Chile and Argentina. In the rest of the countries, the global rates of malformations increased. Venezuela had the higher rate of teenage pregnancies (25%), followed by Colombia (23%). Chile had the higher percentage of women aged 35 years or more giving birth (14%), followed by Uruguay (13%). However, Chile had the higher rate of Down syndrome and Uruguay, the lowest (24.7 and 13.6 per 10000). There is a tendency towards an increase in the rates of congenital malformations in this sample, with significant differences among countries.
Sass, L; Urhoj, S K; Kjærgaard, J; Dreier, J W; Strandberg-Larsen, K; Nybo Andersen, A-M
In a variety of animal species, hyperthermia in pregnancy has been recognized as teratogenic. Hyperthermia interferes with protein synthesis via heat-shock proteins, which can entail membrane disruption, cell death, vascular disruption, and placental infarction. This can induce severe fetal malformations or death. Fever during pregnancy, especially during embryogenesis, has also been associated with congenital malformations in human offspring. The purpose of this large cohort study of clinically recognized pregnancies was to investigate whether fever during first trimester was associated with an increased risk of congenital malformations in the offspring. The Danish National Birth Cohort is a population-based cohort of 100,418 pregnant women and their offspring recruited in 1996 to 2002. Information on fever during pregnancy was collected prospectively by means of two telephone interviews. The study population comprised the 77,344 pregnancies enrolled in the Danish National Birth Cohort where self-reported information on fever during first trimester of pregnancy was available. Pregnancy outcomes were identified through linkage with the National Patient Registry. Congenital malformations within the first three and a half years of life were categorized according to EUROCAT's classification criteria. Logistic regression models were used to estimate the associations between fever in first trimester and overall congenital malformations and congenital malformations by subgroups. Eight thousand three hundred twenty-one women reported fever during first trimester (10.8%) and 2876 infants were diagnosed with a congenital malformation (3.7%). Fever during first trimester did not affect the risk of overall fetal congenital malformation (OR 0.99, 95% CI 0.88-1.12). The subgroup analyses indicated slightly higher risk of congenital anomalies in the eye, ear, face and neck (OR 1.29, 95% CI 0.78-2.12) and in the genitals (OR 1.17, 95% CI 0.79-1.12), whereas lower risk of
Li, Aiyin; Peng, Zhenpeng; Zhang, Chengqi
BACKGROUND The goals of this study were: to compare echocardiogram and 64-multislice spiral computed tomography (64-MSCT) in diagnosing pediatric congenital heart disease; to determine the significance of ECHO for diagnosing congenital heart disease; and to identify the appropriate diagnosis for congenital heart disease through combined use of 64-MSCT and ECHO. MATERIAL AND METHODS Thirty patients underwent both ECHO and 64-MSCT diagnoses before their surgeries. Imaging from ECHO and 64-MSCT were analyzed by 4 specialists. The diagnostic accuracy and kappa value of ECHO and 64-MSCT were evaluated based on the operation results. The accuracy of the 2 methods was evaluated using the McNemar χ² test. RESULTS We confirmed 138 malformations in 30 children by surgery. The diagnostic accuracy of ECHO and 64-MSCT was 98.40% and 96.20%, respectively, with a significant difference between the 2 results (χ²=6.404, P=0.011). We compared prognosis accuracy and uniformity on 3 types of congenital heart disease (cardiac malformation, heart-large vascular connecting malformation, and large vascular malformation): 56 cardiac malformations were confirmed by surgery, in which the diagnostic accuracy of ECHO and 64-MSCT was 99.50% and 94.80%, respectively. (χ²=8.578, P=0.034); 31 heart-large vascular connecting malformations were confirmed by surgery, in which the diagnostic accuracy of ECHO and 64-MSCT was 99.00% and 95.42% (χ²=6.779, P=0.009); and 51 vascular malformations were confirmed, in which the diagnostic accuracy of ECHO and 64-MSCT was 96.30% and 98.30% (χ²=1.806, P=0.179). CONCLUSIONS ECHO is more effective than 64-MSCT in preoperative diagnosis of congenital heart disease, especially for children.
Leite, Mimmi; Albieri, Vanna; Kjaer, Susanne K; Jensen, Allan
To examine the association between maternal smoking during pregnancy and risk for congenital malformations. Population-based prospective cohort study. Denmark. A total of 838 265 singleton liveborn babies delivered in Denmark between 1997 and 2010 and registered in the Danish Medical Birth Register containing detailed information on smoking during pregnancy and congenital malformations. Associations [odds ratios (OR) with 95% CI] between maternal smoking and risk for various groups of congenital malformations, investigated using the generalized estimating equation for binary outcomes, with adjustment for potential confounders. Groups of congenital malformations. Ever smoking during pregnancy did not increase the overall risk for congenital malformations, but increased risks were observed for multiple malformations (i.e. when two or more malformations are diagnosed in a child) (odds ratio 1.06, 95% confidence interval 1.01-1.10) and various main groups of congenital malformations including the cardiovascular system (odds ratio 1.13, 95% confidence interval 1.07-1.19), the respiratory system (odds ratio 1.25, 95% confidence interval 1.11-1.41), the digestive system (odds ratio 1.15, 95% confidence interval 1.07-1.24) and oral clefts (odds ratio 1.29, 95% confidence interval 1.14-1.46), as well as for some specific congenital malformations including cardiac septal defects, malformations of the pulmonary and tricuspid valves, malformations of the great arteries, pyloric stenosis and clubfoot. Infants of women who quit smoking during the first two trimesters had no increased risk for most groups of congenital malformations. Maternal smoking increases the risk for a number of congenital malformations. Future smoking cessation programs should focus on this adverse health aspect in order to encourage more women to quit smoking before or in early pregnancy. © 2014 Nordic Federation of Societies of Obstetrics and Gynecology.
Ambe, J P; Madziga, A G; Akpede, G O; Mava, Y
Several types of congenital malformations have been seen in our settings, but the frequencies and pattern are not known. To review the prevalence and pattern of congenital malformation in the Special Care Baby Unit (SCBU) of the University of Maiduguri Teaching Hospital, Maiduguri, over a 10-year period. This was a retrospective study carried out in a semi-urban Nigerian Teaching Hospital. All admissions into SCBU from 1991 to 2000 were reviewed, using both the admission and discharge records. The information extracted from the case note of each patient included sex, age and weight on presentation, maternal age and parity, gestational age, presence of associated neonatal illnesses such as jaundice, sepsis and the type of malformation on physical examination only. Three hundred and ten (13.9%) of 2233 admissions had major congenital malformation. Thirty one (10%) gave a history of antenatal care while 279(90%) had no record of receiving antenatal care. Of the 310 babies, 140 (45.2%) abnormalities were of the gastro-intestinal system and 75 (24.2%) of central nervous system. Anterior abdominal wall defect 77(24.8%) was the commonest type of malformation seen followed by neural tube defect 63(20.3%) and imperforate anus 31(10.0%). Gastro-intestinal malformations were associated with a mortality rate of 60.9% as compared with 21.1% in those with central nervous system malformations. The high prevalence of malformation seen in this study could be associated with the fact that majority (75.4%) of the mothers delivered their babies outside the teaching hospital, whose antenatal care are unknown. The occurrence of congenital malformations is very high in North Eastern Nigeria, Environmental factors may have a role.
Vilas Boas, Luciana T; Albernaz, Elaine P; Costa, Rafaéla Gonçalves
To determine the prevalence of congenital heart defects in patients with Down syndrome in the municipality of Pelotas, Brazil, describing the most frequent types and assessing the associated factors. Cross-sectional study including children with Down syndrome who were born and lived in Pelotas from January 2000 to December 2005. Data were collected by means of home interviews with mothers or guardians. Univariate and bivariate analyses were carried out to analyze the factors related to congenital heart defect. Forty-seven mothers of patients with Down syndrome were interviewed. Twenty-two (46.8%) of the patients had a diagnosis of congenital heart defect. Of them, 28% had early cardiac evaluation before 3 months of life. The most frequent heart defect was interatrial communication (17%); atrioventricular septal defect affected five patients. Bivariate analysis between the outcome congenital heart defect and the predicting factors maternal age, paternal age, parents' and child's skin color, presence of other malformations and child's sex showed that the associations were not statistically significant. The prevalence of Down syndrome and congenital heart defects in our region is similar to the rates found by other authors; therefore, we highlight the importance of diagnostic suspicion and early referral by pediatricians to cardiac evaluation. Another relevant aspect is the small number of patients who underwent karyotype testing. In addition, the number of associated malformations was lower than that found by other authors.
Greutmann, Matthias; Pieper, Petronella G.
Congenital heart defects are the most common birth defects. Major advances in open-heart surgery have led to rapidly evolving cohorts of adult survivors and the majority of affected women now survive to childbearing age. The risk of cardiovascular complications during pregnancy and peripartum
Ratti, Carlo; Veronesi, Benedetta; Grassi, Laura; Bompani, Bruno
Congenital heart diseases are abnormalities in the heart's structure that are present at birth. Some are known to be associated with genetic disorders. They affect 8 out of every 1,000 newborns. They range from simple defects with no symptoms to complex defects. They are divided in two types: cyanotic and not cyanotic.
Josefsson, A; Bladh, M; Wiréhn, A-B; Sydsjö, G
To study the risk for congenital anomalies in the first child of women after bariatric surgery compared with all other women giving birth to their first child and divided by maternal body mass index (BMI) groups. Prospective, population-based register study. Sweden. All firstborn children to women born 1973-83 were studied to determine if they had a congenital anomaly and a mother who had undergone bariatric surgery before pregnancy. A total of 270,805 firstborns; of which 341 had mothers who had had bariatric surgery before delivery. We retrieved information on the women's marital or cohabitation status, smoking, BMI, diabetes and hypertension during pregnancy. Congenital malformations. Of the firstborn children to mothers who had had bariatric surgery before pregnancy, 4.1% (95% confidence interval [95% CI] 2.2-6.0) were malformed compared with 3.4% (95% CI 3.3-3.5) of those whose mothers had not undergone bariatric surgery. The risk for congenital malformation in firstborn children increased with increasing maternal BMI. The adjusted odds ratio (OR) for congenital malformation among children whose mothers' BMI ranged between 25 and 29 kg/m(2) was 1.09 (95% CI 1.03-1.15), whose mothers' BMI ranged between 30 and 34 kg/m(2) was 1.14 (1.05-1.24) and whose mothers' BMI was ≥35 kg/m(2) was 1.30 (95% CI 1.16-1.45) compared with those whose mothers had a normal BMI. Bariatric surgery before pregnancy did not have any effect on the odds ratio for having congenital malformation (OR = 1.09, 95% CI 0.63-1.91). Preconception bariatric surgery does not seem to affect the risk for congenital malformations but a high to very high BMI does appear to increase the risk. © 2013 RCOG.
Jensen, A S; Idorn, L; Nørager, B
Adults with congenital heart disease are a growing population. One of the major challenges in the care of these patients is to prevent thromboembolic episodes. Despite relative young age and no typical cardiovascular risk factors, this cohort has a high prevalence of thrombotic events....... It is difficult to use treatment algorithms from the general adult population with acquired heart disease in this heterogeneous population due to special conditions such as myocardial scarring after previous surgery, atypical atrial flutter, prothrombotic conditions and the presence of interatrial shunts....... Furthermore, there is a lack of scientific evidence regarding how to prevent thromboembolic events with anticoagulation in adults with congenital heart disease. The aim of this paper is to review the current literature pertaining to anticoagulation in adults with congenital heart disease and hence enable...
Tumin, Dmitry; Chou, Helen; Hayes, Don; Tobias, Joseph D; Galantowicz, Mark; McConnell, Patrick I
Adults with congenital heart disease may require heart transplantation for end-stage heart failure. Whereas heart transplantation potentially allows adults with congenital heart disease to resume their usual activities, employment outcomes in this population are unknown. Therefore, we investigated the prevalence and predictors of work participation after heart transplantation for congenital heart disease. Retrospective review of a prospective registry. United Network for Organ Sharing registry of transplant recipients in the United States. Adult recipients of first-time heart transplantation with a primary diagnosis of congenital heart disease, performed between 2004 and 2015. None. Employment status reported by transplant centers at required follow-up intervals up to 5 y posttransplant. Among 470 patients included in the analysis (mean follow-up: 5 ± 3 y), 127 (27%) worked after transplant, 69 (15%) died before beginning or returning to work, and 274 (58%) survived until censoring, but did not participate in paid work. Multivariable competing-risks regression analysis examined characteristics associated with posttransplant employment, accounting for mortality as a competing outcome. In descriptive and multivariable analysis, pretransplant work participation was associated with a greater likelihood of posttransplant employment, while the use of Medicaid insurance at the time of transplant was associated with a significantly lower likelihood of working after transplant (subhazard ratio compared to private insurance: 0.55; 95% confidence interval: 0.32, 0.95; P = .032). Employment was rare after heart transplantation for congenital heart disease, and was significantly less common than in the broader population of adults with congenital heart disease. Differences in return to work were primarily related to pretransplant employment and the use of public insurance, rather than clinical characteristics. © 2017 Wiley Periodicals, Inc.
Sun, Guowen; Tan, Zhiping; Fan, Liangliang; Wang, Jian; Yang, Yifeng; Zhang, Weizhi
1q21.1 duplication is a rare copy number variant with multiple congenital malformations, including developmental delay, autism spectrum disorder, dysmorphic features and congenital heart anomalies. The present study described a Chinese female patient (age, four years and eight months) with multiple malformations, including congenital heart defect, mental impairment and developmental delay. The parents and the monozygotic twin sister of the patient, however, were physically and psychologically normal. High‑resolution genome‑wide single nucleotide polymorphism array revealed a 1.6‑Mb duplication in chromosome region 1q21.1. This chromosome region contained HFE2, a critical gene involved in hereditary hemochromatosis. However, the parents and monozygotic twin sister of the patient did not carry this genomic lesion. To the best of our knowledge, the present study was the first to report on a 1q21.1 duplication patient in mainland China.
Czarniak, Piotr; Kosiak, Wojciech; Chojnicki, Maciej; Król, Ewa; Zurowska, Aleksandra
Congenital heart diseases are the most frequent anomalies and one of the most important reasons of mortality and morbidity in neonates and infants. Coincidence of additional malformation aggravates prognosis. The frequency of incidence of other anomalies accompanying congenital hart diseases is defined as 11 to 45%. Estimation of the frequency of a coincidence of congenital kidney anomalies on the basis of the ultrasound examination (US) in children with congenital heart disease in first year of life. Abdominal US were done in 350 neonates and infants hospitalized in Department of Pediatric Cardiology Medical University of Gdansk in the first twenty-four hours after diagnosis of congenital heart disease. Examinations were performed in 187 male (53%) and 163 female (47%) in average age 54.9 days (range from 1 to 349 days). In examined population congenital kidney anomalies were found in 4.9% of children from which 18% represent hipoplasia, and another 18% dysplasia. 15.3% of examined patients were diagnosed by dilatation of collecting system, whereof 3% mild, 7% moderate, and 5% severe degree. 1. The frequency of incidence of kidney anomalies and collecting system dilatation in the examined population of neonates and infants with congenital heart disease accounts for 20.2%. 2. Abdominal ultrasound screening with carefully examination of urinary tract should be performed in neonates and infants with congenital heart disease.
Bolger, Aidan P; Gatzoulis, Michael A
Injury to the myocardium disrupts geometric integrity and results in changes to intracardiac pressure, wall stress and tension, and the pattern of blood flow through the heart. Significant disruption to pump function results in heart failure which is defined in terms of symptoms: breathlessness and fatigue, signs of salt and water retention, and neurohormonal activation. This syndrome most commonly occurs in the context of injury due to ischaemic heart disease and dilated cardiomyopathy but because patients with congenital heart disease (CHD) are born with sometimes gross distortions of cardiac anatomy they too are subject to the forces that drive heart failure. This paper explores the available data relating to the clinical and neurohormonal manifestations of heart failure in patients with congenital heart disease and describes how, by additionally exploring events at a cellular level, we may be able to arrive at a definition of heart failure relevant to this population.
Kou, Yann-Fuu; Zhu, Vivian F; Kutz, Joe Walter; Mitchell, Ron B; Isaacson, Brandon
To describe the feasibility of using a transcanal endoscopic approach for management of cerebrospinal leaks secondary to congenital inner ear malformations. Two pediatric patients with congenital inner ear malformations and concurrent cerebrospinal fluid leakage. A stapedectomy was performed and the inner ear was packed with temporalis muscle using a transcanal endoscopic approach. Cessation of cerebrospinal fluid leakage from the inner ear to the middle ear. An otic capsule malformation with a modiolar defect as well as a defect in the stapes footplate was noted in both patients. Successful repair of cerebrospinal fluid otorrhea was achieved in both patients using a minimally invasive transcanal endoscopic approach. One patient developed postoperative meningitis that was successfully managed with antibiotics. Cerebrospinal fluid otorrhea from an inner ear malformation often presents as persistent clear otorrhea after tympanostomy tube placement or recurrent meningitis as was the case in the two patients in this series. A minimally invasive transcanal endoscopic approach is a viable alternative to manage this unique entity.
Tougaard, Ninna Hahn; Bonde, Jens Peter; Hougaard, Karin Sørig
OBJECTIVES: Painters' occupational exposure is classified as a group 1 carcinogen by the International Agency for Research on Cancer (IARC). Previous studies have shown increased risk of congenital malformations among children of women exposed to organic solvents and paint emissions during...... pregnancy. In Denmark, women comprise half of those enrolled in vocational paint training. We investigated the association between maternal and paternal occupational painting, respectively, and the risk of congenital malformations among children. METHODS: National register data were used to link childbirths......, malformations, and parental occupation. The cohort included >1,300,000 children born to occupationally active women in Denmark 1980-2010. Cases were hospital-diagnosed with malformations within the first year of life. Odds ratios (OR) with 95% confidence intervals (95% CI) were estimated using multiple logistic...
Ko, Jung Min
Recent research has demonstrated that genetic alterations or variations contribute considerably to the development of congenital heart disease. Many kinds of genetic tests are commercially available, and more are currently under development. Congenital heart disease is frequently accompanied by genetic syndromes showing both cardiac and extra-cardiac anomalies. Congenital heart disease is the leading cause of birth defects, and is an important cause of morbidity and mortality during infancy and childhood. This review introduces common genetic syndromes showing various types of congenital heart disease, including Down syndrome, Turner syndrome, 22q11 deletion syndrome, Williams syndrome, and Noonan syndrome. Although surgical techniques and perioperative care have improved substantially, patients with genetic syndromes may be at an increased risk of death or major complications associated with surgery. Therefore, risk management based on an accurate genetic diagnosis is necessary in order to effectively plan the surgical and medical management and follow-up for these patients. In addition, multidisciplinary approaches and care for the combined extra-cardiac anomalies may help to reduce mortality and morbidity accompanied with congenital heart disease.
Full Text Available We investigated the chromosomal constitution of patients with mental retardation and/or congenital malformations in order to determine genetic causes for such disturbances. The GTG and CBG banding patterns were studied using phytohemagglutinin M-stimulated lymphocytes cultured from peripheral blood. Among 98 individuals with mental retardation and/or congenital malformations who were analyzed there were 12 cases of Down's syndrome, two of Edward's syndrome, one of Patau's syndrome, five of Turner's syndrome, two of Klinefelter's syndrome, one of "cri-du-chat" syndrome, one case of a balanced translocation between chromosomes 13 and 14, one case of a derivative chromosome and one of a marker chromosome. We found abnormal chromosomes in 26% of the patients, 82% of which were numerical abnormalities, with the remaining 18% being structural variants. We conclude that patients with mental retardation and/or congenital malformations should be routinely karyotyped.
N. A. Kovalenko-Klychkova
Full Text Available Smith-Lemli-Opitz syndrome is rare genetic disorder with multiple limb malformations and neurological manifestation, caused by inborn defect of cholesterol metabolism. Congenital deformities of feet and hands are most common orthopedic symptoms in this syndrome. Description of a girl with Smith-Lemli-Opitz syndrome demonstrates specific features of this disorder and emphasize the importance of proper interpretation of orthopedic malformations for early diagnosis of genetic conditions.
Chiramel, George Koshy, E-mail: firstname.lastname@example.org; Keshava, Shyamkumar Nidugala, E-mail: email@example.com; Moses, Vinu, E-mail: firstname.lastname@example.org; Mammen, Suraj, E-mail: email@example.com [Christian Medical College, Department of Radiology (India); David, Sarada, E-mail: firstname.lastname@example.org [Christian Medical College, Department of Ophthalmology (India); Sen, Sudipta, E-mail: email@example.com [Christian Medical College, Department of Pediatric Surgery (India)
PurposeThis manuscript describes the clinical features, imaging findings, treatment details, and short-term outcomes of a series of congenital slow-flow vascular malformations.MethodsThis was a prospective study of congenital slow-flow vascular malformations involving the orbital region treated at a single institution with percutaneous sclerotherapy.ResultsTen patients presented during the study period, comprising eight venous malformations, one lymphatic malformation, and one veno-lymphatic malformation. Nine patients underwent percutaneous sclerotherapy under digital subtraction angiography guidance, of which three developed marked rise in intraocular pressure requiring lateral canthotomy. The treatments were performed in the presence of an ophthalmologist who measured the intraorbital pressure during and after the procedure. On follow-up, some of the patients required repeat sessions of sclerotherapy. All patients had improvement of symptoms on follow up after the procedure.ConclusionCongenital slow-flow vascular malformations of the orbital region are rare lesions that should be treated using a multidisciplinary approach. Monitoring of the intraorbital pressure is required both during and after the procedure to decide about the need for lateral canthotomy to reduce the transiently increased intraorbital pressure.
Larsen, A D; Hannerz, H; Thulstrup, A M; Bonde, J P; Obel, C; Hougaard, K S
To investigate if maternal exposure to psychosocial job strain at work (high demands and low control) measured by questionnaire early in pregnancy (median week 15) is associated with malformations in the offspring. Population-based cohort study. The Danish National Birth Cohort. A cohort of 60,386 singleton children with full information on mother's occupational status, exposure to psychosocial job strain and all covariates during pregnancy. Logistic regression analysis was used to calculate the odds of congenital malformations as a function of job strain with adjustment for maternal age, body mass index, parity, smoking, alcohol use, manual versus nonmanual work, maternal serious disease and gestational age at interview. Circulatory malformation, musculoskeletal malformation or any malformation. Logistic regression analyses, both crude and adjusted, indicated no associations between working under high strain and giving birth to a child with circulatory malformation (adjusted odds ratio [OR] 1.04, 95% confidence interval [95% CI] 0.75-1.44), musculoskeletal malformation (aOR 0.88, 95% CI 0.71-1.10) or any malformation (aOR 0.99, 95% CI 0.85-1.15). Supplementary analyses including restriction to first-borns and a stratified analysis with respect to manual and nonmanual work did not change the results. Association between exposure to high job strain during pregnancy and elevated risk of circulatory, muscle and any malformations is not supported by this study. © 2014 Royal College of Obstetricians and Gynaecologists.
Valdester Cavalcante Pinto Júnior
Full Text Available AbstractIntroduction:Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007.Objective:To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes.Methods:The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables.Results:The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498; atrial septal defect (4,693; persistent ductus arteriosus (2,490; pulmonary stenosis (1,431; tetralogy of Fallot (973; coarctation of the aorta (973; transposition of the great arteries (887; and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults.Conclusion:In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration.
Pinto Júnior, Valdester Cavalcante; Branco, Klébia Magalhães P Castello; Cavalcante, Rodrigo Cardoso; Carvalho Junior, Waldemiro; Lima, José Rubens Costa; Freitas, Sílvia Maria de; Fraga, Maria Nazaré de Oliveira; Souza, Nayana Maria Gomes de
Congenital heart disease is an abnormality in the structure or cardiocirculatory function, occurring from birth, even if diagnosed later. It can result in intrauterine death in childhood or in adulthood. Accounted for 6% of infant deaths in Brazil in 2007. To estimate underreporting in the prevalence of congenital heart disease in Brazil and its subtypes. The calculations of prevalence were performed by applying coefficients, giving them function rates for calculations of health problems. The study makes an approach between the literature and the governmental registries. It was adopted an estimate of 9: 1000 births and prevalence rates for subtypes applied to births of 2010. Estimates of births with congenital heart disease were compared with the reports to the Ministry of Health and were studied by descriptive methods with the use of rates and coefficients represented in tables. The incidence in Brazil is 25,757 new cases/year, distributed in: North 2,758; Northeast 7,570; Southeast 10,112; South 3,329; and Midwest 1,987. In 2010, were reported to System of Live Birth Information of Ministry of Health 1,377 cases of babies with congenital heart disease, representing 5.3% of the estimated for Brazil. In the same period, the most common subtypes were: ventricular septal defect (7,498); atrial septal defect (4,693); persistent ductus arteriosus (2,490); pulmonary stenosis (1,431); tetralogy of Fallot (973); coarctation of the aorta (973); transposition of the great arteries (887); and aortic stenosis 630. The prevalence of congenital heart disease, for the year of 2009, was 675,495 children and adolescents and 552,092 adults. In Brazil, there is underreporting in the prevalence of congenital heart disease, signaling the need for adjustments in the methodology of registration.
Full Text Available Abstract Introduction Morgagni's congenital diaphragmatic defect is a rare malformation, the diagnosis of which, as in our case report, may be problematic. To the best of our knowledge, this is the first report of this kind of hernia presenting with signs and symptoms of severe cardiac malformation. Case presentation We report the case of a three-month-old Caucasian baby boy, who presented with heart failure and severe pulmonary hypertension. Compression of the heart by a bowel loop in the chest led to an incorrect diagnosis of congenital heart disease. Conclusions Even in this era of highly sophisticated diagnostic tools, a simple radiograph can provide sufficient information for a precise, rapid diagnosis.
Jin, Lan; Qiu, Jie; Zhang, Yaqun; Qiu, Weitao; He, Xiaochun; Wang, Yixuan; Sun, Qingmei; Li, Min; Zhao, Nan; Cui, Hongmei; Liu, Sufen; Tang, Zhongfeng; Chen, Ya; Yue, Li; Da, Zhenqiang; Xu, Xiaoying; Huang, Huang; Liu, Qing; Bell, Michelle L.; Zhang, Yawei
Congenital heart defects are the most prevalent type of birth defects. The association of air pollution with congenital heart defects is not well understood. We investigated a cohort of 8969 singleton live births in Lanzhou, China during 2010-2012. Using inverse distance weighting, maternal exposures to particulate matter with diameters ≤10 μm (PM10), nitrogen dioxide (NO2), and sulfur dioxide (SO2) were estimated as a combination of monitoring station levels for time spent at home and in a work location. We used logistic regression to estimate the associations, adjusting for maternal age, education, income, BMI, disease, folic acid intake and therapeutic drug use, and smoking; season of conception, fuel used for cooking and temperature. We found significant positive associations of Patent Ductus Arteriosus (PDA) with PM10 during the 1st trimester, 2nd trimester and the entire pregnancy (OR 1st trimester = 3.96, 95% confidence interval (CI): 1.36, 11.53; OR 2nd trimester = 3.59, 95% CI: 1.57, 8.22; OR entire pregnancy = 2.09, 95% CI: 1.21, 3.62, per interquartile range (IQR) increment for PM10 (IQR = 71.2, 61.6, and 27.4 μg m-3, respectively)), and associations with NO2 during 2nd trimester and the entire pregnancy (OR 2nd trimester = 1.92, 95% CI: 1.11, 3.34; OR entire pregnancy = 2.32, 95% Cl: 1.14, 4.71, per IQR increment for NO2 (IQR = 13.4 and 10.9 μg m-3, respectively)). The associations for congenital malformations of the great arteries and pooled cases showed consistent patterns. We also found positive associations for congenital malformations of cardiac septa with PM10 exposures in the 2nd trimester and the entire pregnancy, and SO2 exposures in the entire pregnancy. Results indicate a health burden from maternal exposures to air pollution, with increased risk of congenital heart defects.
P. Opic (Petra); E.M.W.J. Utens (Elisabeth); J.A.A.E. Cuypers (Judith); M. Witsenburg (Maarten); A.E. van den Bosch (Annemien); R.T. van Domburg (Ron); A.J.J.C. Bogers (Ad); H. Boersma (Eric); Pelliccia, A. (Antonio); J.W. Roos-Hesselink (Jolien)
textabstractBackground: It is unclearwhether sports participation in adultswith repaired congenital heart disease is safe and has benefits. Methods: Congenital heart disease (ConHD) patients who underwent corrective surgery for Atrial Septal Defect, Ventricular Septal Defect, Pulmonary Stenosis,
Kirklin, James K
Pediatric heart transplantation is an established therapy for end-stage cardiac disease without suitable medical or surgical options. However, transplantation for congenital heart disease carries an incremental risk that challenges the pediatric transplant team on multiple levels. With improved outcomes following palliative and corrective congenital cardiac surgery, cardiac transplantation has decreased in recent years as a primary therapy. Nevertheless, congenital heart disease remains the most common indication for cardiac transplantation during infancy. Primary transplantation in infancy is selectively recommended for severe systemic ventricular dysfunction, severe atrioventricular valve insufficiency, and occlusive coronary artery anomalies, particularly with single ventricle physiology. Wait-list mortality remains highest for infants with prior palliative surgery and patients with failing Fontan physiology, both of whom have limited options for effective mechanical circulatory support. The sensitized patient carries an increased risk with prolonged wait times, although virtual cross-matches and single bead assays for donor-specific antigens have facilitated the transplant process. Early and late survival after transplantation for congenital heart disease remain inferior to cardiomyopathy, with prior Fontan procedure as a major risk factor. However, among survivors at 6 months, late outcomes are generally excellent. Major late causes of death include allograft vasculopathy, post-transplant lymphoproliferative disease, and acute rejection. Noncompliance with medications remains a major risk for teenage mortality. Despite the myriad of evolving challenges, pediatric heart transplantation for congenital heart disease enjoys routine short and long-term success at experienced centers for the vast majority of such patients without other options.
Contractor, Tahmeed; Levin, Vadim; Mandapati, Ravi
Adults with congenital heart disease are at risk for atrial and ventricular arrhythmias that can lead to an increased morbidity as well as mortality. When catheter ablation is not an option or unsuccessful, antiarrhythmic drugs are the mainstay of treatment. There is limited data on the use of antiarrhythmics in this population. The purpose of this article is to discuss the practical aspects of the use of antiarrhythmics in adults with congenital heart disease. Several tables have been provided to provide clinicians a reference for daily use. Copyright © 2017 Elsevier Inc. All rights reserved.
Bouma, Berto J; Mulder, Barbara J M
Congenital heart disease is the most frequently occurring congenital disorder affecting ≈0.8% of live births. Thanks to great efforts and technical improvements, including the development of cardiopulmonary bypass in the 1950s, large-scale repair in these patients became possible, with subsequent dramatic reduction in morbidity and mortality. The ongoing search for progress and the growing understanding of the cardiovascular system and its pathophysiology refined all aspects of care for these patients. As a consequence, survival further increased over the past decades, and a new group of patients, those who survived congenital heart disease into adulthood, emerged. However, a large range of complications raised at the horizon as arrhythmias, endocarditis, pulmonary hypertension, and heart failure, and the need for additional treatment became clear. Technical solutions were sought in perfection and creation of new surgical techniques by developing catheter-based interventions, with elimination of open heart surgery and new electronic devices enabling, for example, multisite pacing and implantation of internal cardiac defibrillators to prevent sudden death. Over time, many pharmaceutical studies were conducted, changing clinical treatment slowly toward evidence-based care, although results were often limited by low numbers and clinical heterogeneity. More attention has been given to secondary issues like sports participation, pregnancy, work, and social-related difficulties. The relevance of these issues was already recognized in the 1970s when the need for specialized centers with multidisciplinary teams was proclaimed. Finally, research has become incorporated in care. Results of intervention studies and registries increased the knowledge on epidemiology of adults with congenital heart disease and their complications during life, and at the end, several guidelines became easily accessible, guiding physicians to deliver care appropriately. Over the past decades
Bermejo, E; Martínez-Frías, M L
We analyzed Spanish Collaborative Study of Congenital Malformations (ECEMC) data on a series of 1,124,654 consecutive births to study congenital eye malformations from an epidemiological standpoint. We studied their frequencies as well as some causal and clinical aspects. Four hundred fourteen infants had eye malformations, for an overall prevalence of 3.68/10,000 newborns. Most frequent were: anophthalmia/microphthalmia (21.34/100,000), congenital cataract (6.31), coloboma (4.89), corneal opacity (3.11), and congenital glaucoma (2.85). In our data, the tendency of eye malformations to be associated with other congenital abnormalities is evident (only 21.01% of cases were isolated). Eye defects are heterogeneous, since we have observed them in clinical patterns with all modes of inheritance or caused by different environmental agents. Chromosomal syndromes represent 60% of total syndromes, followed by syndromes of autosomal-recessive inheritance (15%), environmental syndromes (10%), autosomal-dominant syndromes (5.83%), and other types which have a lower frequency. Regarding defects associated with eye malformations, most frequent are limb anomalies (affecting 59.3% of multiply malformed cases), auricular/facial (47.1%), central nervous system (42.5%), osteomuscular excluding limbs (42.2%), genital defects (30.6%), oral clefts (29.4%), and the rest of the body systems, which are less frequent. Using the method outlined by Prieto and Martínez-Frías [1996: Am J Med Genet 62:61-67], it was demonstrated that the association of coloboma and anophthalmia/microphthalmia was specific, as was the combination of cataract and anophthalmia/microphthalmia, and that of anophthalmia/microphthalmia with holoprosencephaly. From these statistical associations some pathogenetic relationships in human embryos can be inferred, supporting several previously proposed mechanisms.
Methlouthi, Jihene; Mahdhaoui, Nabiha; Bellaleh, Manel; Guith, Aida; Zouari, Douha; Ayech, Hedia; Nouri, Sonia; Séboui, Hassen
Congenital heart defects are the most common congenital malformations in the newborn with an estimated incidence ranging between 6-9 ‰. In Tunisia, this incidence reaches 1.9 ‰. This can be explained by misdiagnosed cases. In fact, the diagnosis is based mainly on clinical examination which allows making the diagnosis only in 50 in 75 % of the cases. Several studies showed the interest of pulse oximetry oximeter in the screening of cyanogenic and duct dependent congenital heart diseases. The Objective of our work is to determine the incidence of congenital heart diseases screened by physical examination coupled with the measure of transcutaneous saturation Methods: forward-looking and descriptive Study, concerning all the births of the central maternity of Sousse, during a period of 12 months. We have measured transcutaneous saturation of all the newborn children in association to routine physical, examination. This study aimed to screen congenital heart disease and then calculate their incidence. during the period of the study 10447 newborn children had been born in the central maternity of Sousse. Among whom, 26 had a congenital heart defect. The incidence of the neonatal cardiac malformations in our current study was found in 2.77 ‰ of alive births. It was about 1.1 ‰ of newborns in a similar study practised in 2009 (Chi2=76.2 et pheart disorder was diagnosed following the grip taking of the only percutaneous saturation in 5 newborn children and following the clinical examination in 21. the measure of the transcutaneous saturation in the first day of life is a little expensive and specific method for the early screening of the duct dependent cardiac malformations.
Over 95% of children with congenital heart defects now reach adulthood and the number of adults with congenital heart disease is estimated to be at least 1.2 million in Europe alone. Despite major developments in diagnostic methods and treatment of congenital heart disease, cure is rarely achieved.
Ennis, Zandra Nymand; Damkier, Per
To review available data on first-trimester exposure to olanzapine, quetiapine, risperidone and aripiprazole and risk of congenital malformations. We performed a systematic literature search in accordance with PRISMA guidelines identifying studies containing original data on first-trimester expos......To review available data on first-trimester exposure to olanzapine, quetiapine, risperidone and aripiprazole and risk of congenital malformations. We performed a systematic literature search in accordance with PRISMA guidelines identifying studies containing original data on first......-trimester exposure and pregnancy outcome with respect to congenital malformations. Cumulated data for olanzapine were 1090 first-trimester-exposed pregnancies with 38 malformations resulting in a malformation rate of 3.5%. The corresponding numbers for quetiapine, risperidone and aripiprazole were 443/16 (3.6%), 432....../22 (5.1%) and 100/5 (5.0%), respectively. Relative risk estimates and 95% confidence intervals were 1.0 (0.7-1.4) (olanzapine), 1.0 (0.6-1.7) (quetiapine), 1.5 (0.9-2.2) (risperidone) and 1.4 (0.5-3.1) (aripiprazole). First-trimester exposure to olanzapine is not associated with an increased risk...
Ellesøe, Sabrina G; Workman, Christopher T; Bouvagnet, Patrice; Loffredo, Christopher A; McBride, Kim L; Hinton, Robert B; van Engelen, Klaartje; Gertsen, Emma C; Mulder, Barbara J M; Postma, Alex V; Anderson, Robert H; Hjortdal, Vibeke E; Brunak, Søren; Larsen, Lars A
Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision-making, but the recurrence patterns in families are poorly understood. We aimed to determine recurrence patterns, by investigating the co-occurrences of CHD in 1163 families with known malformations, comprising 3080 individuals with clinically confirmed diagnosis. We calculated rates of concordance and discordance for 41 specific types of malformations, observing a high variability in the rates of concordance and discordance. By calculating odds ratios for each of 1640 pairs of discordant lesions observed between affected family members, we were able to identify 178 pairs of malformations that co-occurred significantly more or less often than expected in families. The data show that distinct groups of cardiac malformations co-occur in families, suggesting influence from underlying developmental mechanisms. Analysis of human and mouse susceptibility genes showed that they were shared in 19% and 20% of pairs of co-occurring discordant malformations, respectively, but none of malformations that rarely co-occur, suggesting that a significant proportion of co-occurring lesions in families is caused by overlapping susceptibility genes. Familial CHD follow specific patterns of recurrence, suggesting a strong influence from genetically regulated developmental mechanisms. Co-occurrence of malformations in families is caused by shared susceptibility genes.
Kamphuis, M.; Vogels, T.; Ottenkamp, J.; Wall, E.E. van der; Verloove-Vanhorick, S.P.; Vliegen, H.W.
Objective: To evaluate job participation, careerrelated problems, and actual job problems in adults with complex congenital heart disease (CHD) compared with adults with mild CHD and reference groups. Design: Cross-sectional study. Setting: Patients were randomly selected from the archives of the
Kamphuis, Mascha; Vogels, Ton; Ottenkamp, Jaap; van der Wall, Ernst E.; Verloove-Vanhorick, S. Pauline; Vliegen, Hubert W.
To evaluate job participation, career-related problems, and actual job problems in adults with complex congenital heart disease (CHD) compared with adults with mild CHD and reference groups. Cross-sectional study. Patients were randomly selected from the archives of the Department of Pediatric
P. Opić (Petra)
textabstractSince the first surgical techniques for patients with congenital heart disease (ConHD) became available some 55 years ago, virtually every area of patient care has evolved substantially. These improvements lead to an increased survival for patients with ConHD, with over 90% of infants
W.B. de Koning (Wilfred)
textabstractThe treatment of patients with congenital heart disease (CHD) has progressed vastly over the last five decennia. In the Netherlands, around 200,000 children are born each year, around 1,800 of whom have a CHD. This incidence – 6 – 8 per thousand live births – is reported to be similar
Ellesøe, Sabrina G.; Workman, Christopher T.; Bouvagnet, Patrice
Congenital heart defects (CHD) affect almost 1% of all live born children and the number of adults with CHD is increasing. In families where CHD has occurred previously, estimates of recurrence risk, and the type of recurring malformation are important for counselling and clinical decision......-making, but the recurrence patterns in families are poorly understood. We aimed to determine recurrence patterns, by investigating the co-occurrences of CHD in 1163 families with known malformations, comprising 3080 individuals with clinically confirmed diagnosis. We calculated rates of concordance and discordance for 41...... specific types of malformations, observing a high variability in the rates of concordance and discordance. By calculating odds ratios for each of 1640 pairs of discordant lesions observed between affected family members, we were able to identify 178 pairs of malformations that co-occurred significantly...
Rosen, Robert J.; Contractor, Sohail
This article outlines the use of liquid acrylic adhesives in the management of congenital vascular malformations. Specifically, the chemical features of cyanoacrylates, including the physical and chemical properties, exovascular use of cyanoacrylates, and the techniques for use of these agents, are discussed.
Çanaku, D.; Toçi, E.; Roshi, E.; Burazeri, G.
AIM: Congenital Malformations (CMs) represent a challenge especially for developing countries. Data about CMs in Albania are rather scarce. In this context, our aim was to assess the prevalence and factors associated with CMs in Tirana, the capital of Albania. METHODS: Information on all CMs at
Lassen, Dorte; Ennis, Zandra Nymand; Damkier, Per
and noradrenaline reuptake inhibitors, SNRIs, significantly less data are available. Following the PRISMA guideline for systematic reviews, we performed a systematic search on the risk of major congenital malformations after first trimester in utero exposure to venlafaxine or duloxetine. We identified eight cohort...
In this thesis the results are described of clinical and molecular investigation of human syndromes with congenital patellar malformations as a hallmark feature, with emphasis on nail patella syndrome, small patella syndrome, isolated patellar aplasia or hypoplasia, and Meier-Gorlin syndrome. The
Jentink, Janneke; Dolk, Helen; Loane, Maria A.; Morris, Joan K.; Wellesley, Diana; Garne, Ester; de Jong-van den Berg, Lolkje
Objective To identify specific major congenital malformations associated with use of carbamazepine in the first trimester of pregnancy. Design A review of all published cohort studies to identify key indications and a population based case-control study to test these indications. Setting Review of
Lucia Madalina CORLAT
Full Text Available Congenital vertebral malformations of the thoracolumbar area can have an important impact in the clinical evolution of French Bulldogs due to the instability it creates at the spinal level. The aim of this study is to show the differences between x-ray and CT scans in vertebral malformations of the French Bulldog. CT scans can offer a higher degree of certainty in the diagnosis of congenital vertebral malformations of the dogs. The VR model can offer a more thorough evaluation of the existing modifications of the vertebral body, allowing the examiner to circumvent the superposition effect than can be observed in the x-ray views and offering the chance to evaluate whether there is scoliosis or kyphosis present.
Twenty-seven years follow-up of a patient with congenital retinocephalofacial vascular malformation syndrome and additional congenital malformations (Bonnet-dechaume-blanc syndrome or wyburn-mason syndrome
Full Text Available Abstract Purpose Follow-up of vascular changes in a patient with congenital retinocephalofacial vascular malformation syndrome. Methods MRI and cerebral angiography. Results In a 36-year-old man, magnetic resonance im aging of the skull and cerebral angiography revealed left intracranial arteriovenous malformations. Follow-up observation of 27 years revealed no essential change of retinal and cerebral arteriovenous malformations. Additional congenital deficits in this patient were described. Conclusion Patients with retinal arteriovenous malformations should be early examined with neuroradiological methods.
Sperling, Silke R
Even though the foundation of systems biology approaches to cardiac function was led more than fifty years ago, there has been slow progression over the last few decades. Systems biology studies were mainly focused on lower organisms, frequently on yeast. With the boost of high-throughput technologies, systems level analyses, building one backbone of systems biology, started to complement the single-gene focus in the fields of heart development and congenital heart disease. A challenge is to bring together the many uncovered molecular components driving heart development and eventually to establish computational models describing this complex developmental process. Congenital heart diseases represent overlapping phenotypes, reflecting the modularity of heart development. The aetiology of the majority of congenital heart disease is still unknown, and it is suggestive that understanding the biological network underlying heart development will enhance our understanding for its alteration. This review provides an overview of the framework for systems biology approaches focusing on the developing heart and its pathology. Recent methodological developments building the basis for future studies are highlighted and the knowledge gained is specified.
Lind, Jennifer N; Interrante, Julia D; Ailes, Elizabeth C; Gilboa, Suzanne M; Khan, Sara; Frey, Meghan T; Dawson, April L; Honein, Margaret A; Dowling, Nicole F; Razzaghi, Hilda; Creanga, Andreea A; Broussard, Cheryl S
Opioid use and abuse have increased dramatically in recent years, particularly among women. We conducted a systematic review to evaluate the association between prenatal opioid use and congenital malformations. We searched Medline and Embase for studies published from 1946 to 2016 and reviewed reference lists to identify additional relevant studies. We included studies that were full-text journal articles and reported the results of original epidemiologic research on prenatal opioid exposure and congenital malformations. We assessed study eligibility in multiple phases using a standardized, duplicate review process. Data on study characteristics, opioid exposure, timing of exposure during pregnancy, congenital malformations (collectively or as individual subtypes), length of follow-up, and main findings were extracted from eligible studies. Of the 68 studies that met our inclusion criteria, 46 had an unexposed comparison group; of those, 30 performed statistical tests to measure associations between maternal opioid use during pregnancy and congenital malformations. Seventeen of these (10 of 12 case-control and 7 of 18 cohort studies) documented statistically significant positive associations. Among the case-control studies, associations with oral clefts and ventricular septal defects/atrial septal defects were the most frequently reported specific malformations. Among the cohort studies, clubfoot was the most frequently reported specific malformation. Variabilities in study design, poor study quality, and weaknesses with outcome and exposure measurement. Uncertainty remains regarding the teratogenicity of opioids; a careful assessment of risks and benefits is warranted when considering opioid treatment for women of reproductive age. Copyright © 2017 by the American Academy of Pediatrics.
The aim of this study was to systematically evaluate the potential of static MR imaging in congenital heart disease. The diagnosis of vascular rings, causing significant respiratory morbidity, previously required invasive methods for diagnosis. In aberrant left pulmonary artery, an uncommon anomaly, MR imaging at 0.3 T provided complete anatomic information. Complex congenital heart malformation is a diagnostic challenge. MR imaging at 0.3 T was efficient in defining most of the components of complex disease. It is especially valuable for imaging of extracardiac structures, which can be difficult to evaluate using echocardiography. MR imaging is an important complement to echocardiography. Improved equipment with sophisticated dynamic applications using high magnetic field strength is now available. The anatomical evaluation of congenital heart anomalies is however still based on static images, and low field magnets will certainly be used even in the future. 141 refs, 11 figs, 8 tabs.
Schumacher, G H; Gill, H; Gill, H
Congenital malformations are mentioned in Assyrian and Babylonian literature, and the opinions of Democritus, Empedocles and Aristotle regarding their origin persisted in modified form until the Middle Ages. Following the invention of printing, illustrations of congenital malformations began to appear on pamphlets. Although not always realistic, these illustrations provide a rich source of information regarding the spirit of those times. The first monographs containing collections and interpretations of malformations appeared in the 16th century. These were followed in the 17th century by increasingly realistic illustrations, and superstitious ideas regarding the causes of malformations, although still predominating, gradually started to recede.
Hebe, Joachim; Nürnberg, Jan-Hendrik; Langes, Klaus
In children and adolescents with congenital heart disease (CHD) tachyarrhythmia occurs more frequently compared to patients with otherwise normal hearts. Arrhythmia substrates may be a natural part of certain congenital cardiac malformations or may result from long lasting myocardial deterioration as a result of CHD and/or cardiac surgery. Treatment of tachycardia is more frequently required even in early childhood, as the impact on quality of life, morbidity and mortality is higher due to an often reduced hemodynamic tolerance. Over the past 20 years interventional electrophysiology has been established as the therapy of choice for the majority of chronic or chronically recurrent tachycardia even in children with CHD. The success and risks of treatment are predominantly influenced by the individual expression of the cardiac anomaly and, if surgery has been performed, the highly variant postoperative anatomy. Introduction of 3D electroanatomical mapping systems together with modern cardiac imaging tools have significantly contributed to an improved understanding, particularly in postoperative tachycardia. Despite such progress, success rates are lower and recurrences are more frequent compared to patients without CHD. Complex and often multiple tachycardia courses account for the still limited performance as well as a frequently insufficient lesion formation with the use of radiofrequency current in the hypertrophic and fibrotic myocardium. Electrophysiology in children and adolescents, particularly if CHD is present, represents a highly specialized discipline requiring a high expertise in CHD, CHD surgery and cardiac electrophysiology and is ideally imbedded within an interdisciplinary cardiological and cardiosurgical setting.
Pulmonary arteriovenous malformation (PAVM) is a rare condition in which there is abnormal connection between pulmonary arteries and veins. The disorder usually appears in late childhood or early adult life, with dyspnea on exertion, clubbing or cyanosis. We present two patients with severe cyanosis and their work-up ...
Jennifer L. Quon
Full Text Available Abusive head trauma is a leading cause of infant death, but other causes of intracranial hemorrhage must be systematically excluded. Here we present a case of multiple hemorrhagic cavernous malformations that was initially thought to be indicative of abusive head trauma. Using a clinical decision-making framework, we provide insight into child abuse diagnostics.
Quon, Jennifer L.; Grant, Ryan A.; Asnes, Andrea G.; DiLuna, Michael L
Abusive head trauma is a leading cause of infant death, but other causes of intracranial hemorrhage must be systematically excluded. Here we present a case of multiple hemorrhagic cavernous malformations that was initially thought to be indicative of abusive head trauma. Using a clinical decision-making framework, we provide insight into child abuse diagnostics.
... procedures with catheters (thin, flexible tubes) can fix medium and large ASDs. Heart surgery may be needed ... parts. Conditions in your everyday life (lifestyle and environment) Some things in your life and environment (where ...
Bhat, Venkatraman; Gadabanahalli, Karthik; Ahmad, Ozaire [Narayana Multispeciality Hospital and Mazumdar Shaw Cancer Center, Department of Radiology, Bangalore (India)
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.)
textabstractThe treatment of patients with congenital heart disease (CHD) has progressed vastly over the last five decennia. In the Netherlands, around 200,000 children are born each year, around 1,800 of whom have a CHD. This incidence – 6 – 8 per thousand live births – is reported to be similar round the world, making CHD the world’s commonest congenital anomaly. In the Netherlands, this high incidence and the improved treatment options both mean that the number of people surviving CHD is i...
Sun, RongRong; Liu, Min; Lu, Lei; Zheng, Yi; Zhang, Peiying
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.
Greil, Gerald; Tandon, Animesh (Aashoo); Silva Vieira, Miguel; Hussain, Tarique
Three-dimensional (3D) whole heart techniques form a cornerstone in cardiovascular magnetic resonance imaging of congenital heart disease (CHD). It offers significant advantages over other CHD imaging modalities and techniques: no ionizing radiation; ability to be run free-breathing; ECG-gated dual-phase imaging for accurate measurements and tissue properties estimation; and higher signal-to-noise ratio and isotropic voxel resolution for multiplanar reformatting assessment. However, there are...
Rosenblum, Omer; Katz, Uriel; Reuveny, Ronen; Williams, Craig A; Dubnov-Raz, Gal
Few previous studies have addressed exercise capacity in patients with corrected congenital heart disease (CHD) and significant anatomical residua. The aim of this study was to determine the aerobic fitness and peak cardiac function of patients with corrected CHD with complete or incomplete repairs, as determined by resting echocardiography. Children, adolescents and young adults (heart defect had decreased aerobic fitness, with evidence of impaired peak cardiac function and lower pulmonary perfusion. Patients that had undergone a complete repair had decreased aerobic fitness attributed only to deconditioning. These newly identified differences explain why in previous studies, the lowest fitness was seen in patients with the most hemodynamically significant heart malformations.
Schultz-Coulon, H J
Congenital anomalies of the larynx are reviewed from a clinical and therapeutic point of view by means of data from the literature and our own case studies. Laryngeal aplasia is not compatible with life, whereas atresia may have a theoretical chance to survive. Among the stenotic anomalies causing congenital stridor the harmless laryngomalacia is the most frequent. The subglottic hypoplastic ("hard") cricoid stenosis requires laryngoplasty , which may be done as early as the second year of life. In contrast, a subglottic hyperplastic ("soft") stenosis may resolve spontaneously during the first 3-5 years of life. Laryngeal webs and congenital synechiae of the vocal processes are resected endoscopically. A bilateral paralysis of vocal cords must be distinguished from congenital ankylosis of the cricoarytenoid joints by electromyography. If there is no spontaneous widening of the glottis during postnatal laryngeal growth, both diseases require endoscopic laterofixation of one vocal cord. Laryngoceles are mainly seen in adults, whereas congenital cysts are mostly observed in early childhood, especially when they are large enough to cause respiratory distress. Subglottic hemangiomas occur in two types: first, there is the cavernous hemangioma, which has to be surgically removed only in the case of respiratory inpediment , because it may recede spontaneously. Secondly, there is the submucosal flat hemangioma within the scope of congenital hemangiomatoses of the facial and cervical area, which probably does not cause a pseudocroup like syndrome without an additional upper respiratory tract infection. An intralaryngeal goitre is found almost exclusively in adults. The prognosis of a laryngoesophageal cleft is still very uncertain. We report such a case which demonstrates the difficulties of surgical repair. The term "dysplastic dysphonia" refers to congenital hoarseness due to minor defects or asymmetries of laryngeal structures such as the fairly frequent sulcus
prognosis? Congenital heart disease and comorbidities. The birth incidence of congenital heart disease (CHD) is just less than 1%.1 Of these children, approximately 50 - 60% will require surgery. Between 25% and 30%2 of children with CHD will have some form of additional congenital lesion, a comorbidity or structural.
Nederend, I.; Jongbloed, M.R.M.; de Geus, J.C.N.; Blom, N.A.; ten Harkel, A.D.J.
Congenital heart disease is the most common congenital defect. During childhood, survival is generally good but, in adulthood, late complications are not uncommon. Abnormal autonomic control in children with congenital heart disease may contribute considerably to the pathophysiology of these long
Patorno, Elisabetta; Bateman, Brian T; Huybrechts, Krista F; MacDonald, Sarah C; Cohen, Jacqueline M; Desai, Rishi J; Panchaud, Alice; Mogun, Helen; Pennell, Page B; Hernandez-Diaz, Sonia
To assess whether first-trimester exposure to pregabalin is associated with an increased risk of major congenital malformations, as recently suggested in a pregnancy registry study. We performed a cohort study nested in the US Medicaid Analytic eXtract (MAX). The study population included 1,323,432 pregnancies resulting in a live-born infant between 2000 and 2010. We examined the risk of major congenital malformations among infants born to women exposed to pregabalin during the first trimester compared with women unexposed to anticonvulsants. We used propensity score fine stratification to control for >50 potential confounders, and we estimated relative risks (RRs) and 95% confidence intervals (CIs) in generalized linear models. The analyses were replicated in the Truven Health MarketScan Commercial Database (MarketScan). Pooled estimates based on the adjusted RR produced in MAX, MarketScan, and the previous registry study were calculated. Of 477 infants exposed to pregabalin during the first trimester in MAX, 28 (5.9%) had malformations compared to 3.3% in nonexposed infants. The crude RR of major congenital malformations for pregabalin was 1.80 (95% CI 1.26-2.58). After propensity score adjustment, the RR moved to 1.16 (95% CI 0.81-1.67). Restriction to pregabalin monotherapy and sensitivity analyses produced similar results. The adjusted RR for major congenital malformations for the 174 infants exposed in MarketScan was 1.03 (95% CI 0.56-1.90). The pooled RR was 1.33 (95% CI 0.83-2.15) for pregabalin any use and 1.02 (95% CI 0.69-1.51) for pregabalin monotherapy. Findings did not confirm the suggested teratogenic effects of pregabalin, although they cannot rule out the possibility of a small effect. © 2017 American Academy of Neurology.
... no signs or symptoms. Others might cause a baby to have the following symptoms: Blue-tinted nails or lips Fast or troubled breathing Tiredness when feeding Sleepiness Diagnosis ... of the heart of the developing baby. However, some CHDs are not detected until after ...
Full Text Available Afnan I Al-Saleem,1 Asma M Al-Jobair21Dental Department, Prince Sultan Military Medical City, Riyadh, Saudi Arabia; 2Department of Pediatric Dentistry and Orthodontics, College of Dentistry, King Saud University, Riyadh, Saudi ArabiaAbstract: Congenital malformations might occur because of environmental or genetic factors, and sometimes occur because of unknown causes. Acetazolamide is a carbonic anhydrase inhibitor that is used to treat idiopathic intracranial hypertension, glaucoma, and epilepsy. The use of acetazolamide has not been recommended for pregnant women because of reported teratogenic risks. Congenital malformations, such as ectrodactyly, syndactyly, cleft lip/palate, and retarded incisor teeth development, have been reported in experimental animals. However, tooth agenesis due to the use of acetazolamide has not been reported yet. Oligodontia is a severe type of tooth agenesis involving six or more congenitally missing teeth. The causes of oligodontia are attributed to environmental factors, such as irradiation, drugs, trauma, tumors, infection, genetic factors, or a combination. There is no credible evidence of undesirable effects of acetazolamide use in human pregnancy. However, we report a case of a 12-year-old Saudi boy who was exposed to maternal acetazolamide (1,000 mg/day for treatment of idiopathic intracranial hypertension before pregnancy, during the first trimester, and throughout the pregnancy. This treatment might have resulted in some congenital malformations, such as ectrodactyly, syndactyly, and oligodontia.Keywords: acetazolamide, oligodontia, ectrodactyly, syndactyly
Ueker, Marly Eliane; Silva, Vivianne Monteiro; Moi, Gisele Pedroso; Pignati, Wanderley Antonio; Mattos, Ines Echenique; Silva, Ageo Mário Cândido
Most fetal defects are associated with genetic and environmental causes, among them, exposure of pregnant women to intensive pesticide use. Agribusiness is the economic basis of the state of Mato Grosso, the largest consumer of pesticides of all Brazilian states. The objective of this study was to investigate the association between past parental exposure to pesticides and the occurrence of congenital malformations in children in Mato Grosso, Brazil. This hospital-based case-control study was conducted in Cuiabá, the capital of Mato Grosso, from March to October 2011. Data was collected in all public, private, and health plan referral hospitals that provide care for pregnant women in the state of Mato Grosso and were situated in Cuiabá. Cases were children under 5 years of age with congenital malformations classified in Chapter XVIII of the International Classification of Diseases-10 and controls were children within the same age range, without congenital malformations, treated at the same hospitals. Malformation-related data was obtained from the patients' medical records. Socioeconomic data and information about parental exposure to pesticides were obtained in an interview with the mother using a standardized questionnaire. We conducted multivariate logistic regression to assess the relation between parent report of past pesticide use and congenital malformations. We also assessed effect modification to verify whether low maternal education level modified the association between exposure and our outcome. We observed positive effect modification of the association of paternal past exposure to pesticide and congenital malformation in the offspring by maternal education for mothers with low educational level (OR = 8.40, 95 % CI 2.17-32.52), father's work related to farming (OR = 4.65, 95 % CI 1.03-20.98) and paternal past exposure to pesticides (OR = 4.15, 95 % CI 1.24-13.66). These findings provide further evidence that paternal exposure to
Jabłoński, Janusz; Jankowski, Zbigniew; Sitkiewicz, Anna; Lewandowska, Małgorzata; Andrzejewska, Ewa
Congenital cystic adenomatoid malformation (CCAM) is a rare pulmonary abnormality that results from aberrant fetal lung development. It about 4-26% of cases it can be associated with other congenital abnormalities. We describe a case of congenital cystic adenomatoid malformation 2 associated with polycystic kidney disease. The association of these two congenital malformations is exceptional. Only four similar cases have been reported in the literature. A 2-year-old girl was referred to the Department of Paediatric Surgery and Oncology Medical University of Lodz with pneumonia and left pneumothorax. For three weeks prior to referral the patient was treated with antibiotics. Chest x-ray revealed hyperinflation of left upper lobe with mediastinal shift to right. Computer tomographic scan of the lung revealed multiple cyst in the left upper lobe, left-site pneumothorax and mediastinal shift to the right. The patient underwent thoracotomy. Intraoperatively, multiple cysts in the left upper lobe were found and left upper lobectomy was performed. Histologic study was compatible with type 2 congenital cystic adenomatoid malformation. Ultrasound examination showed multilocular cysts in both kidneys. The dimensions of the cysts were: MWR4. 54x45x45 mm and 25x21x24 mm on the left and right sides, respectively. Significant increase in cyst size on the left side was observed. Ten months after first hospitalization resection of the cystic lower pole of the left kidney was performed. The presence of even a single renal cyst in a child with CCAM is an indication for further follow up examinations.
Morgan CT; Shine AM; McMahon CJ
Conall T Morgan,1 Anne Marie Shine,2 Colin J McMahon1 1Department of Pediatric Cardiology, 2Department of Clinical Nutrition and Dietetics, Our Lady's Children's Hospital Crumlin, Dublin, Republic of Ireland Abstract: There are 40,000 infants born in the USA with congenital heart disease annually. Achievement of adequate oral nutrition is difficult in this population. Malnutrition is common. Single ventricle physiology, the risk of necrotizing enterocolitis, and cardiopulmona...
Hoffman, Julien IE
Abstract Although the incidence of congenital heart disease (CHD) is similar worldwide, the burden of supporting these patients falls more heavily on countries with high fertility rates. In a country with a fertility rate of about eight per woman, the population has to support four times as many children with CHD as in a country with a fertility rate of two. Countries with the highest fertility rates tend to have the lowest incomes per capita, thus accentuating the disparity. Countries with h...
Muntean, Iolanda; Togănel, Rodica; Benedek, Theodora
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.
Sørensen, Thomas Sangild; Mosegaard, Jesper; Kislinskiy, Stefan
￼ Teaching, diagnosing, and planning of therapy in patients with complex structural cardiovascular heart disease require profound understanding of the three-dimensional (3D) nature of cardiovascular structures in these patients. To obtain such understanding, modern imaging modalities provide high...... et al., Cardiol Young 13:451–460, 2003). In combination with the availability of virtual models of congenital heart disease (CHD), techniques for computer- based simulation of cardiac interventions have enabled early clinical exploration of the emerging concept of virtual surgery (Sorensen et al...
nor smoked. There was no history of congenital anomalies in her family. The foetus seemecl to grow ... of paracetamol, caffeine and aspirin. The manufacturers recommend use of not more than eight tablets a ... aspirin taken in the first trimester may interact with alcohol to induce arched palate, cleft palate, digital deformities ...
Woudstra, Odilia I; Ahuja, Suchit; Bokma, Jouke P; Bouma, Berto J; Mulder, Barbara J M; Christoffels, Vincent M
Congenital heart disease is a major health issue, accounting for a third of all congenital defects. Improved early surgical management has led to a growing population of adults with congenital heart disease, including patients with defects affecting the right ventricle, which are often classified as severe. Defects affecting the right ventricle often cause right ventricular volume or pressure overload and affected patients are at high risk for complications such as heart failure and sudden death. Recent insights into the developmental mechanisms and distinct developmental origins of the left ventricle, right ventricle, and the outflow tract have shed light on the common features and distinct problems arising in specific defects. Here, we provide a comprehensive overview of the current knowledge on the development into the normal and congenitally malformed right heart and the clinical consequences of several congenital heart defects affecting the right ventricle. Published on behalf of the European Society of Cardiology. All rights reserved. © The Author 2017. For permissions, please email: firstname.lastname@example.org.
Stankunas, Kryn; Shang, Ching; Twu, Karen Y; Kao, Shih-Chu; Jenkins, Nancy A; Copeland, Neal G; Sanyal, Mrinmoy; Selleri, Licia; Cleary, Michael L; Chang, Ching-Pin
Congenital heart diseases are traditionally considered to be multifactorial in pathogenesis resulting from environmental and genetic interactions that determine penetrance and expressivity within a genetically predisposed family. Recent evidence suggests that genetic contributions have been significantly underestimated. However, single gene defects occur only in a minority of cases, and multigenetic causes of congenital heart diseases have not been fully demonstrated. Here, we show that interactions between alleles of 3 Pbx genes, which encode homeodomain transcription factors, are sufficient to determine the phenotypic presentation of congenital heart diseases in mice. A major role is served by Pbx1, whose inactivation results in persistent truncus arteriosus. Reduction or absence of Pbx2 or Pbx3 leads to Pbx1 haploinsufficiency and specific malformations that resemble tetralogy of Fallot, overriding aorta with ventricular septal defect, and bicuspid aortic valves. Disruption of Meis1, which encodes a Pbx DNA-binding partner, results in cardiac anomalies that resemble those caused by Pbx mutations. Each of the observed cardiac defects represents developmental abnormalities affecting distinct stages of cardiac outflow tract development and corresponds to specific types of human congenital heart disease. Thus, varied deficiencies in the Pbx gene family produce a full spectrum of cardiac defects involving the outflow tract, providing a framework for determining multigenetic causes of congenital heart anomalies.
Becker, S; Al Halees, Z
Consanguinity may be a risk factor that contributes to congenital heart disease in an inbred population, particularly among first cousins; with high rates of intermarriage between relatives, consanguinity is associated with congenital heart disease particularly among first cousins. This study examines a group of 1,028 consecutive congenital heart disease (CHD) patients identified through the Congenital Heart Disease Registry at King Faisal Specialist Hospital in Riyadh, Saudi Arabia. Families were interviewed by an Arabic-speaking data collector for information on consanguinity and demographic data. After exclusions for nonavailability, data were collected on 949 cases and the proportions of first-cousin consanguinity in the study sample were compared to national population data. A z test of proportions was utilized to test the hypothesis that there are higher proportions of first-cousin consanguinity in the study sample of congenital heart patients than in the general population. Data indicate that the proportion of first-cousin matings among CHD patients is significantly higher than that of first-cousin intermarriages reported in the general population (p < 0.001). Regional breakdowns of the data substantiate significant differences (p < 0.001) in the proportions of first-cousin consanguinity in the study sample compared to the general population. In a population with a high degree of inbreeding, consanguinity may exacerbate underlying genetic risk factors, particularly for offspring of first-cousin matings. This finding has public health implications for genetic counseling and prevention of some cardiac malformations. Copyright 2000 S. Karger AG, Basel
Full Text Available Introduction: Despite recent advances in anesthesia, cardiopulmonary bypass and surgical techniques, children undergoing congenital heart surgery require postoperativemechanical ventilation. Early extubation was definedas ventilation shorter than 12 hours. Aim of this study is to identify factors associated with successful early extubation after pediatric cardiac surgery.Methods: The study was performed during period from January 2006 to January 2011 at Pediatric Clinic and Heart Center University Clinical center Sarajevo. One hundred children up to 5 years of age, who have had congenital heart disease, with left–right shunt and obstructive heart disease were included in the study. Patients were divided into two groups: Group I - patients extubated within 12 hours after surgery and Group II - patients extubated 12 or more hours after surgery. Results: The most frequently encountered preoperative variables were age with odds ratio 4% 95%CI (1-7%, Down's syndrome 8.5 95%CI (1.6-43.15, failure to thrive 4.3 95%CI( 1-18. Statistically significant postoperative data included lung disease (reactive airways, pneumonia, atelectasis, pneumothorax and with odds ratio 35.1 95 %CI (4-286 and blood transfusion with odds ratio 4.6 95%CI (2-12. Blood transfusion (p=0.002 (Wald=9.2 95%CI (2-12, during as well as after operation procedure has statistically significant influence on prediction time of extubation. Proven markers were age with cut of 21.5 months (sensitivity 74% and specificity 70% and extracorporeal circulation (ECC with cut-of 45.5 minutes (sensitivity 71% and specificity 65%.Conclusion: Early extubation is possible in many children undergoing congenital heart surgery. Younger age and prolonged ECC time are markers associated with prolonged mechanical ventilation.
Overholt, A C; Atri, D
Cosmic rays are known to cause biological effects directly and through ionizing radiation produced by their secondaries. These effects have been detected in airline crews and other specific cases where members of the population are exposed to above average secondary fluxes. Recent work has found a correlation between solar particle events and congenital malformations. In this work we use the results of computational simulations to approximate the ionizing radiation from such events as well as longer term increases in cosmic ray flux. We find that the amounts of ionizing radiation produced by these events are insufficient to produce congenital malformations under the current paradigm regarding muon ionizing radiation. We believe that further work is needed to determine the correct ionizing radiation contribution of cosmogenic muons. We suggest that more extensive measurements of muon radiation effects may show a larger contribution to ionizing radiation dose than currently assumed.
Full Text Available Introduction: Congenital malformations of the lung (CML are rare but potentially dangerous congenital malformations. Their identification is important in order to define the most appropriate management. Materials and methods: We retrospectively reviewed data from 37 patients affected by CML treated in our Pediatric Surgery Unit in the last four years with minimally invasive surgery (MIS. Results: Prenatal diagnosis was possible in 26/37 patients. Surgery was performed in the first month of life in 3 symptomatic patients and between 6 and 12 months in the others. All patients underwent radiological evaluation prior to thoracoscopic surgery. Images collected were reconstructed using the VR render software. Discussion and conclusions: Volume rendering gives high anatomical resolution and it can be useful to guide the surgical procedure. Thoracoscopy should be the technique of choice because it is safe, effective and feasible. Furthermore it has the benefit of a minimal access technique and it can be easily performed in children.
Collins, Anne M
Congenital cystic adenomatoid malformation is a rare pulmonary developmental anomaly, which typically manifests in neonates and infants. Presentation in adulthood is uncommon, with <60 cases reported in the literature. The majority of cases involve one lobe only. We report a case of type 1 congenital cystic adenomatoid malformation in an adult presenting with a respiratory tract infection and haemoptysis. At thoracotomy, complex cystic masses were noted in the right upper and lower lobes. Lung-sparing surgery, in the form of two segmentectomies and a non-anatomical resection, was performed in order to avoid pneumonectomy. Such presentations may be problematic as potentially incomplete resections may increase the risk of complications and malignant transformation. This suggests the importance of appropriate clinical and radiological follow up.
Gupta, N; Shastri, S; Singh, P K; Jana, M; Mridha, A; Verma, G; Kabra, M
An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights. An association of congenital diaphragmatic hernia, dandy walker malformation and nasopharyngeal teratoma is very rare. Here, we report a fourth case with this association where chromosomal microarray and whole exome sequencing (WES) was performed to understand the underlying genetic basis. Findings of few variants especially a novel variation in HIRA provided some insights. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
Hirabayashi, Kristin E; Kalin-Hajdu, Evan; Bever, Greg J; Vagefi, M Reza; de Alba Campomanes, Alejandra G; Cooke, Daniel L; Dowd, Christopher F; Kersten, Robert C
The authors describe, for the first time to their knowledge, a case of a congenital macrocystic lymphatic malformation of the orbit with associated venous stasis retinopathy that acutely normalized after drainage and sclerotherapy of the lesion. Prenatal ultrasound revealed prominence of the left orbital soft tissue, and at birth, the patient was noted to have unilateral proptosis, tortuous retinal vessels, and intraretinal hemorrhages in all 4 quadrants in the left eye. MRI demonstrated a primarily intraconal, multiloculated, T2-hyperintense mass consistent with a lymphatic malformation. Ultrasound-guided cyst aspiration and sclerotherapy was performed, with subsequent improvement of the proptosis and resolution of the vessel tortuosity and intraretinal hemorrhages. Although venous stasis retinopathy is usually related to central retinal vein occlusion or carotid artery occlusive disease, any entity that increases orbital venous resistance can generate retinal venous dilation and intraretinal hemorrhages, including an orbital lymphatic malformation.
Mazor Dray, Efrat; Marelli, Ariane J
This article reviews the changing epidemiology of congenital heart disease summarizing its impact on the demographics of the congenital heart disease population and the progress made in order to improve outcomes in this patient population. Birth prevalence of congenital heart disease can be modified by many factors. As a result of decreasing mortality and increasing survival in all forms of congenital heart disease, the median age of patients has increased and adults now compose two-thirds of patients with congenital heart disease. Disease burden and resulting health services utilization increase significantly across the lifespan. Bridging the gap between policy and quality of care can be improved by referral to specialized adult congenital heart disease centers and planning delivery of specialized services that are commensurate with population needs, program accreditation criteria and certified training of designated workforce. Copyright © 2015 Elsevier Inc. All rights reserved.
Klessen, C.; Asbach, P.; Hein, P. A.; Beyersdorff, D.; Hamm, B.; Taupitz, M. [Humboldt-Univ. of Berlin, Campus Charite Mitte (Germany). Dept. of Radiology
This is a case of complex genital malformation in a young patient with congenital adrenal hyperplasia. The magnetic resonance imaging (MRI) findings included ostium of the vagina into the urethra (common urogenital opening), prostate-like tissue surrounding the urethra, and hyperplasia of the left adrenal gland. The report provides information on the clinical findings, the MRI examination, including the applied sequences and the MR findings, and gives an overview of the disease pattern and its frequency of occurrence.
Hedberg, Carola; Oldfors, Anders; Darin, Niklas
Congenital muscular dystrophies associated with brain malformations are a group of disorders frequently associated with aberrant glycosylation of α-dystroglycan. They include disease entities such a Walker–Warburg syndrome, muscle–eye–brain disease and various other clinical phenotypes. Different genes involved in glycosylation of α-dystroglycan are associated with these dystroglycanopathies. We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and i...
Diao, Mingfang; Sun, Jianjun; Liu, Yang
A pregnant female taken realgar because of superstition, which caused the baby congenital deafness. Auditory test indicated that bilateral auditory brainstem response (ABR) hearing threshold level was greater than 90 dB nHL and auditory steady state response (ASSR) hearing level ranging from 0.5 kHz to 4 kHz was beyond 110 dB HL. Temporal bone CT showed that bilateral cochlear and semicircular canal malformations, with internal auditory canal broadened.
Ueker, Marly Eliane; Silva, Vivianne Monteiro; Moi,Gisele Pedroso; Pignati, Wanderley Antonio; Mattos, Ines Echenique; Silva, Ageo M?rio C?ndido
Background Most fetal defects are associated with genetic and environmental causes, among them, exposure of pregnant women to intensive pesticide use. Agribusiness is the economic basis of the state of Mato Grosso, the largest consumer of pesticides of all Brazilian states. The objective of this study was to investigate the association between past parental exposure to pesticides and the occurrence of congenital malformations in children in Mato Grosso, Brazil. Methods This hospital-based cas...
Oliveira, P; Domenech, O; Silva, J; Vannini, S; Bussadori, R; Bussadori, C
Knowledge of epidemiology is important for recognition of cardiovascular malformations. Review the incidence of congenital heart defects in dogs in Italy and assess breed and sex predispositions. Nine hundred and seventy-six dogs diagnosed with congenital heart disease (CHD) of 4,480 dogs presented to Clinica Veterinaria Gran Sasso for cardiovascular examination from 1997 to 2010. A retrospective analysis of medical records regarding signalment, history, clinical examination, radiography, electrocardiography, echocardiography, angiography, and postmortem examination was performed. Breed and sex predisposition were assessed with the odds ratio test. CHD was observed in 21.7% of cases. A total of 1,132 defects were observed with single defects in 832 cases (85%), 2 concurrent defects in 132 cases (14%), and 3 concurrent defects in 12 cases (1%). The most common defects were pulmonic stenosis (PS; 32.1%), subaortic stenosis (SAS; 21.3%), and patent ductus arteriosus (20.9%), followed by ventricular septal defect (VSD; 7.5%), valvular aortic stenosis (AS; 5.7%), and tricuspid dysplasia (3.1%). SAS, PS, and VSD frequently were associated with other defects. Several breed and sex predispositions were identified. The results of this study are in accordance with previous studies, with slight differences. The breed and sex predilections identified may be of value for the diagnosis and screening of CHD in dogs. Additionally, the relatively high percentage of concurrent heart defects emphasizes the importance of accurate and complete examinations for identification. Because these data are from a cardiology referral center, a bias may exist. Copyright © 2011 by the American College of Veterinary Internal Medicine.
Trevisan, Patrícia; Rosa, Rafael Fabiano M.; Koshiyama, Dayane Bohn; Zen, Tatiana Diehl; Paskulin, Giorgio Adriano; Zen, Paulo Ricardo G.
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 lesio...
Mansour, A M; Bitar, F F; Traboulsi, E I; Kassak, K M; Obeid, M Y; Megarbane, A; Salti, H I
To describe the ocular findings in subjects with congenital heart disease (CHD). In a prospective study, the same observer examined 240 consecutive patients with CHD admitted to the medical centre. Two independent geneticists performed identification of syndromes. The commonest anatomic cardiac anomalies were ventricular or atrial septal defects (62), tetralogy of Fallot (39), pulmonary stenosis (25), and transposition of the great arteries (24). The heart lesions were divided physiologically into volume overload (90), cyanotic (87), and obstructive (63). In all, 105 syndromic subjects included the velocardiofacial syndrome (18), Down's syndrome (17), CHARGE association (6), DiGeorge syndrome (5), Williams syndrome (3), Edwards syndrome (3), Noonan syndrome (3), VACTERL association (2), and Patau syndrome (trisomy 13) (2). The paediatric team recognized 51 patients as syndromic. Two independent geneticists recognized additional 54 patients as syndromic. Positive eye findings were present in 55% (132) and included retinal vascular tortuosity (46), optic disc hypoplasia (30), trichomegaly (15), congenital ptosis (12), strabismus (11), retinal haemorrhages (8), prominent eyes (7), and congenital cataract (6). There was a strong correlation between the retinal vascular tortuosity and both a low haematocrit (P=0.000) and a low arterial oxygen saturation (P=0.002). Patients with CHD are at a high risk for ocular pathology and need screening for various ocular abnormalities.
Misnaza, Sandra Patricia; Roncancio, Claudia Patricia; Peña, Isabel Cristina; Prieto, Franklin Edwin
During 2012, 13% of the deaths worldwide in children under the age of 28 days were due to congenital malformations. In Colombia, congenital malformations are the second leading cause of infant mortality. Objective: To determine the geographical distribution of extended perinatal mortality due to congenital malformations in Colombia between 1999 and 2008. Materials and methods: We conducted a cross-sectional study. We revised all death certificates issued between 1999 and 2008. We defined perinatal mortality as fetal or non-fetal deaths within the first 28 days after delivery in children with body weight ≥500 grams, and congenital malformations according to ICD-10 diagnostic codes Q000 - Q999. The annual birth projection was used as the denominator. We defined high mortality areas due to congenital malformations as those in the 90th percentile. Results: We recorded 22,361 perinatal deaths due to congenital malformations. The following provinces exceeded the 90th perinatal mortality percentile: Antioquia, Caldas, Risaralda, Huila, Quindío, Bogotá, Valle del Cauca and Guainía. Among the municipalities, the highest perinatal mortality rates were found in Giraldo, Ciudad Bolívar, Riosucio, Liborina, Supía, Alejandría, Sopetrán, San Jerónimo, Santa Fe de Antioquia and Marmato (205.81 and 74.18 per 10.000 live births).The perinatal mortality rate due to malformations of the circulatory system was 28.1 per 10.000 live births, whereas the rates for central nervous system defects and chromosomal abnormalities were 13.7 and 7.0, respectively. The Andean region showed high perinatal mortality rates due to congenital malformations. There is an urgent need to identify possible risk factors of perinatal mortality and implement successive prevention programs in that particular region.
Pasquali, Sara K; Jacobs, Marshall L; He, Xia; Shah, Samir S; Peterson, Eric D; Hall, Matthew; Gaynor, J William; Hill, Kevin D; Mayer, John E; Jacobs, Jeffrey P; Li, Jennifer S
A better understanding of costs associated with common and resource-intense conditions such as congenital heart disease has become increasingly important as children's hospitals face growing pressure...
Krieger, Eric V; Leary, Peter J; Opotowsky, Alexander R
Patients with adult congenital heart disease have an increased risk of developing pulmonary hypertension. There are several mechanisms of pulmonary hypertension in patients with adult congenital heart disease, and understanding them requires a systematic approach to define the patient's hemodynamics and physiology. This article reviews the updated classification of pulmonary hypertension in patients with adult congenital heart disease with a focus on pathophysiology, diagnostics, and the evaluation of pulmonary hypertension in special adult congenital heart disease populations. Copyright © 2015 Elsevier Inc. All rights reserved.
Bergman, Jorieke E H; Lutke, L Renée; Gans, Rijk O B; Addor, Marie-Claude; Barisic, Ingeborg; Cavero-Carbonell, Clara; Garne, Ester; Gatt, Miriam; Klungsoyr, Kari; Lelong, Nathalie; Lynch, Catherine; Mokoroa, Olatz; Nelen, Vera; Neville, Amanda J; Pierini, Anna; Randrianaivo, Hanitra; Rissmann, Anke; Tucker, David; Wiesel, Awi; Dolk, Helen; Loane, Maria; Bakker, Marian K
The prevalence of chronic hypertension is increasing in pregnant women. Beta-blockers are among the most prevalent anti-hypertensive agents used in early pregnancy. The objective of this study was to investigate whether first-trimester use of beta-blockers increases the risk of specific congenital anomalies in offspring. A population-based case-malformed control study was conducted in 117,122 registrations of congenital anomalies from 17 European Concerted Action on Congenital Anomalies and Twins (EUROCAT) registries participating in EUROmediCAT with data for all or part of the period between 1995 and 2013. Associations previously reported in the literature (signals) were tested and an exploratory analysis was performed to identify new signals. Odds ratios of exposure to any beta-blocker or to a beta-blocker subgroup were calculated for each signal anomaly compared with two control groups (non-chromosomal, non-signal anomalies and chromosomal anomalies). The exploratory analyses were performed for each non-signal anomaly compared with all the other non-signal anomalies. The signals from the literature (congenital heart defects, oral clefts, neural tube defects and hypospadias) were not confirmed. Our exploratory analysis revealed that multi-cystic renal dysplasia had significantly increased odds of occurring after maternal exposure to combined alpha- and beta-blockers (adjusted odds ratio 3.8; 95% confidence interval 1.3-11.0). Beta-blocker use in the first trimester of pregnancy was not found to be associated with a higher risk of specific congenital anomalies in the offspring, but a new signal between alpha- and beta-blockers and multi-cystic renal dysplasia was found. Future large epidemiological studies are needed to confirm or refute our findings.
Stoll, Claude; Dott, Beatrice; Alembik, Yves; Roth, Marie-Paule
Cases with congenital heart defects (CHD) often have other associated anomalies. The purpose of this investigation was to assess the prevalence and the types of associated anomalies in CHD in a defined population. The anomalies associated with CHD were collected in all live births, stillbirths and terminations of pregnancy during 26 years in 346,831 consecutive pregnancies of known outcome in the area covered by our population based registry of congenital anomalies. Of the 4005 cases with CHD born during this period (total prevalence of 115.5 per 10,000), 1055 (26.3%) had associated major anomalies. There were 354 (8.8%) cases with chromosomal abnormalities including 218 trisomies 21, and 99 (2.5%) nonchromosomal recognized dysmorphic conditions. There were no predominant recognized dysmorphic conditions, but VACTERL association. However, other recognized dysmorphic conditions were registered including Noonan syndrome, fetal alcohol syndrome, and skeletal dysplasias. Six hundred and two (15.0%) of the cases had non syndromic, non chromosomal multiple congenital anomalies (MCA). Anomalies in the urinary tract, the musculoskeletal, the digestive, and the central nervous systems were the most common other anomalies. Prenatal diagnosis was obtained in 18.7% of the pregnancies. In conclusion the overall prevalence of associated anomalies, which was one in four infants, emphasizes the need for a thorough investigation of cases with CHD. A routine screening for other anomalies may be considered in infants and in fetuses with CHD. One should be aware that the anomalies associated with CHD can be classified into a recognizable anomaly, syndrome or pattern in one out of nine cases with CHD. Copyright © 2014 Elsevier Masson SAS. All rights reserved.
Scansen, Brian A; Schneider, Matthias; Bonagura, John D
Feline congenital heart disease is less commonly encountered in veterinary medicine than acquired feline heart diseases such as cardiomyopathy. Understanding the wide spectrum of congenital cardiovascular disease demands a familiarity with a variety of lesions, occurring both in isolation and in combination, along with an appreciation of complex nomenclature and variable classification schemes. This review begins with an overview of congenital heart disease in the cat, including proposed etiologies and prevalence, examination approaches, and principles of therapy. Specific congenital defects are presented and organized by a sequential segmental classification with respect to their morphologic lesions. Highlights of diagnosis, treatment options, and prognosis are offered. It is hoped that this review will provide a framework for approaching congenital heart disease in the cat, and more broadly in other animal species based on the sequential segmental approach, which represents an adaptation of the common methodology used in children and adults with congenital heart disease. Copyright © 2015 Elsevier B.V. All rights reserved.
Full Text Available Congenital colonic stenosis is a rare pediatric condition. Since 1968, only 16 cases have been reported in the literature. To the authors’ knowledge, multiple congenital colonic stenosis has not been previously reported in the literature. We report the case of a 2-month-old male, presented at our Neonatal Intensive Care Unit with a suspicion of intestinal malrotation. Clinical examination revealed persistent abdominal distension. During the enema examination, the contrast medium appeared to fill the lumen of the colon up to three stenotic segments and could not proceed further. Intraoperatively we confirmed the presence of four types of colonic atresia, located in the ascending, transverse, and descending colon, respectively, plus appendix atresia. First surgical steps consisted in resection of proximal stenotic segment, appendix removal, proximal cecostomy, and distal colostomy on ascending colon in order to preserve colonic length. Histopathological examination confirmed the diagnosis of colonic stenosis. Final surgical step consisted in multiple colocolostomy and enteroplasty. A planned two-stage procedure, consisting of resection with colostomy for decompression as the first step and a later anastomosis, is recommended in order to allow bowel length preservation.
Tarp, Julie Bjerre; Jensen, Annette Schophuus; Engstrøm, Thomas; Holstein-Rathlou, Niels-Henrik; Søndergaard, Lars
Improved treatment options in paediatric cardiology and congenital heart surgery have resulted in an ageing population of patients with cyanotic congenital heart disease (CCHD). The risk of acquired heart disease such as atherosclerosis increases with age.Previous studies have speculated whether patients with CCHD are protected against atherosclerosis. Results have shown that the coronary arteries of patients with CCHD are free from plaques and stenosis. Decreased carotid intima-media thickness and low total plasma cholesterol may indicate a reduced risk of later development of atherosclerosis. However, the evidence is still sparse and questionable, and a reasonable explanation for the decreased risk of developing atherosclerosis in patients with CCHD is still missing.This review provides an overview of what is known about the prevalence and potential causes of the reduced risk of atherosclerosis in patients with CCHD. © 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.
Rathod, Rahul H; Powell, Andrew J; Geva, Tal
Myocardial fibrosis is common in patients with congenital heart disease (CHD) and has been associated with arrhythmias, decreased functional status, and adverse ventricular mechanics. There are multiple types of myocardial fibrosis that occur in response to different pathophysiologic stimuli. Recent advances in imaging technology have made detection and quantification of the types of myocardial fibrosis possible. In this review, we describe the pathophysiology of myocardial fibrosis, examine the imaging techniques used to evaluate fibrosis, and discuss the relationship between myocardial fibrosis and clinical outcomes in CHD. (Circ J 2016; 80: 1300-1307).
Hedlund, Gary [Primary Children' s Medical Center, Department of Medical Imaging, Salt Lake City, UT (United States)
The newborn, infant, or young child who presents with a midline frontonasal mass often poses a diagnostic challenge to the clinician. The most pressing issue is whether the mass extends intracranially. The development of the frontonasal region or anterior neuropore is complex. Aberrant embryogenesis leads to three main types of anomalies: nasal dermal sinus, anterior cephalocele, and nasal glioma. Understanding the developmental anatomy of the anterior neuropore and postnatal maturation will serve the radiologist well when it comes to imaging frontonasal masses. Pitfalls particularly common to CT imaging interpretation include the evolving ossification of the frontal, nasal and ethmoid bones in the first year of life, morphology and size of the foramen cecum, and the natural intumescence of the anterior nasal septum. Determination of the presence of a connection between the frontonasal mass and the anterior cranial fossae is crucial in the imaging assessment and clinical management. In the case of the nasal dermal sinus, failure to appreciate the intracranial components of the malformation can lead to fatal meningitis. MR imaging is the modality of choice for assessing the pediatric frontonasal region. Its advantages include multiplanar imaging, distinguishing the interface among cartilage, bone, brain and fluid, diffusion imaging to detect epidermoid tumors, and the capacity to evaluate the brain for associated cerebral anomalies. (orig.)
Therapeutic Cardiac Catheterizations for Children with Congenital Heart Disease Introduction A therapeutic cardiac catheterization is a procedure performed to treat your child’s heart defect. A doctor will use special techniques and ...
Karsdorp, Petra A.; Kindt, Merel; Everaerd, Walter; Mulder, Barbara J. M.
The present study was aimed at clarifying whether preattentive processing of heart cues results in biased perception of heart sensations in patients with congenital heart disease (ConHD) who are also highly trait anxious. Twenty-six patients with ConHD and 22 healthy participants categorized
Full Text Available Conall T Morgan,1 Anne Marie Shine,2 Colin J McMahon1 1Department of Pediatric Cardiology, 2Department of Clinical Nutrition and Dietetics, Our Lady's Children's Hospital Crumlin, Dublin, Republic of Ireland Abstract: There are 40,000 infants born in the USA with congenital heart disease annually. Achievement of adequate oral nutrition is difficult in this population. Malnutrition is common. Single ventricle physiology, the risk of necrotizing enterocolitis, and cardiopulmonary bypass prevent the establishment of normal oral feeding patterns. Improved nutrition results in improved surgical outcomes, lower mortality, and shorter hospital stay. In this review, we discuss the challenges this population faces. Keywords: necrotizing enterocolitis, malnutrition, growth failure, hypoplastic left heart
Woodward, Cathy S
Keeping children with congenital heart disease healthy is vital to their long-term survival and quality of life. Nurse practitioners are in an excellent position to keep these sometimes fragile children healthy before, between, and after their cardiac surgeries. Primary care visits should address developmental morbidity. Referral for in-depth evaluations and intervention should be initiated for children with hemodynamically significant heart disease. Infants may also experience poor feeding. Nutritional guidance may include fortifying formulas or enteral tube feedings. Attention to immunization status and prevention of winter illnesses and endocarditis may reduce complications in this high-risk group of children. Copyright © 2011 National Association of Pediatric Nurse Practitioners. Published by Mosby, Inc. All rights reserved.
Homa, Lori D; Smorgick-Rosenbaum, Noam; Smith, Yolanda R; Gemmete, Joseph J; Quint, Elisabeth H
Premenarchal vaginal bleeding can present a diagnostic challenge and has not been previously reported in association with congenital venous lymphatic malformation. A 3-year-old girl presented with intermittent vaginal bleeding since birth. Evaluation showed premenarchal estradiol and gonadotropin hormones, a normal pelvic ultrasound and normal colonoscopy. Examination under anesthesia and vaginoscopy showed a congested appearance of the hymen and vaginal petechiae. Sudden development of a vulvar cyst led to a pelvic magnetic resonance imaging scan, which revealed a venous malformation of the pelvis and vulvar lymphatic cyst. Vaginal bleeding stopped for approximately 6 months after sclerotherapy with doxycycline and ethanol, however recurred and required repeat sclerotherapy. Congenital venous lymphatic malformations can rarely be associated with premenarchal vaginal bleeding and should be considered when all more common etiologies have been ruled out. Diagnosis is made using magnetic resonance imaging, and treatment might include doxycycline and ethanol sclerotherapy. Copyright © 2016 North American Society for Pediatric and Adolescent Gynecology. Published by Elsevier Inc. All rights reserved.
T.P.E. Ruys (Titia)
textabstractThe prevalence of Congenital Heart Disease (CHD) has been described to be 8,2 per 1000 live births in European countries.(1) Congenital heart disease is a collective term for a large number of different diagnoses with different anatomical substrate, complexity and prognosis. The most
Objectives: To determine the patterns of congenital heart disease in children in Nigeria and examine trends in the occurrence ... Results: The commonest congenital heart diseases in Nigeria are ventricular septal defect (40.6%), patent ductus arteriosus. (18.4%) ...... Milgram E. High prevalence of muscular ventricular sep-.
Mohamed Ali Hegazi
Conclusion: Congenital cyanotic heart disease were associated with a highly significant decrease in the mean serum selenium and zinc levels, when compared with control group and non significant increase the mean serum copper levels. Changes in these trace elements suggested to play an important role in the pathogenesis of myocardial damage in congenital cyanotic heart disease.
Full Text Available Chronic diseases of childhood and the associated emotional problems are receiving major attention in the current pediatric practice. Adolescents with congenital heart diseases have significantly higher emotional problems compared to those without chronic illnesses. Early detection and management of emotional problems is essential to improve the quality of life of the adolescents with congenital heart diseases.
Steltzer, Michelle; Rudd, Nancy; Pick, Barbara
Those health care professionals entrusted with the care of infants with congenital heart disease require an understanding of the unique nutritional needs of this population. This article defines the congenital, physiologic, and nutritional variables encountered in this population. The nutritional needs, multi-factorial sources of undernutrition, and consequences of inadequate nutrition in infants with congenital heart disease are discussed, as well as medical and nutritional management strategies intended to optimize growth and reduce morbidity.
Pruszewicz, Antoni; Wiskirska-Woźnica, Bożena; Wojnowski, Waldemar; Czerniejewska, Hanna; Jackowska, Joanna; Jarmuż, Małgorzata; Szyfter, Krzysztof; Leszczyńska, Małgorzata
Patient: Female, 6 Final Diagnosis: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: — Medication: — Clinical Procedure: — Specialty: Otolaryngology Objective: Congenital defects Background: Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13). Sometimes phenotype may delusively correspond to the characteristic features of a given syndrome, but genotype tests do not confirm its presence. Case Report: We present the case of a 6-year-old girl admitted to the Clinic of Phoniatrics and Audiology for the assessment of communication in the course of congenital malformations with phenotype characteristic for trisomy 18 (Edwards syndrome). Immediately upon birth, dysmorphic changes suggesting trisomy 18 (Edwards syndrome) were observed, but trisomy 18 was excluded after karyotype test results were normal (46, XX). Conclusions: Disturbed articulation was diagnosed: deformed linguo-dental and palatal sounds, interdental realization with flat tongue of the /s/, /z/, /c/, /dz/, /ś/, /ź/, /ć/, /dz/ sounds (sigmatismus interdentalis). Hearing loss was confirmed. PMID:24478819
Pruszewicz, Antoni; Wiskirska-Woźnica, Bożena; Wojnowski, Waldemar; Czerniejewska, Hanna; Jackowska, Joanna; Jarmuż, Małgorzata; Szyfter, Krzysztof; Leszczyńska, Małgorzata
Female, 6 FINAL DIAGNOSIS: Phenotype-genotype discordance in congenital malformations with communication disorders resembling trisomy 18 (Edwards syndrome) Symptoms: - - Clinical Procedure: - Specialty: Otolaryngology. Congenital defects. Communication process disorders are very frequent in rare cases of chromosomal aberrations (deletions, insertions, and trisomies) such as Down syndrome (trisomy 21), Turner syndrome, Edwards syndrome (trisomy 18), or Patau syndrome (trisomy 13). Sometimes phenotype may delusively correspond to the characteristic features of a given syndrome, but genotype tests do not confirm its presence. We present the case of a 6-year-old girl admitted to the Clinic of Phoniatrics and Audiology for the assessment of communication in the course of congenital malformations with phenotype characteristic for trisomy 18 (Edwards syndrome). Immediately upon birth, dysmorphic changes suggesting trisomy 18 (Edwards syndrome) were observed, but trisomy 18 was excluded after karyotype test results were normal (46, XX). DISTURBED ARTICULATION WAS DIAGNOSED: deformed linguo-dental and palatal sounds, interdental realization with flat tongue of the /s/, /z/, /c/, /dz/, /ś/, /ź/, /ć/, /dz/ sounds (sigmatismus interdentalis). Hearing loss was confirmed.
Snijder, Claudia A; Vlot, Ingrid J; Burdorf, Alex; Obermann-Borst, Sylvia A; Helbing, Willem A; Wildhagen, Mark F; Steegers, Eric A P; Steegers-Theunissen, Régine P M
Congenital heart defects (CHDs) are the most common major malformations in newborns. In this study we examined the associations between the occurrence of CHDs in children and periconceptional occupational parental exposures to chemicals. In an age-matched case-control study with standardized data collection at c. 15 months after birth, 424 mothers and 421 fathers of a child with CHD and 480 mothers and 477 fathers of a non-malformed child, filled out questionnaires on periconceptional general and job characteristics. A job exposure matrix, which links the information on job title and a description of work tasks to an expert judgement on exposure to chemicals in the workplace, was used. The overall prevalence of occupational exposure to chemicals was 5.0 in cases and 6.2% in controls for mothers [odds ratio (OR) adjusted = 0.92; 95% confidence interval (CI): 0.26-3.25], while 22.3 and 15.9% for fathers, respectively (OR adjusted = 1.23; 95% CI: 0.39-3.91). No association of maternal occupational exposure to chemicals with risk of CHDs was found. Paternal exposure to phthalates was associated with a higher incidence of CHDs in general (OR adjusted = 2.08; 95% CI: 1.27-3.40). Paternal exposure to phthalates was associated with perimembranous ventricular septal defect (OR adjusted = 2.84; 95% CI: 1.37-5.92), to polychlorinated compounds with atrioventricular septal defect (OR adjusted = 4.22; 95% CI: 1.23-14.42) and to alkylphenolic compounds with coarctation of the aorta (OR adjusted = 3.85; 95% CI: 1.17-12.67). Periconceptional paternal (but not maternal) occupational exposure to certain chemicals is associated with an increased risk of CHDs in children. The results, however, must be interpreted cautiously as exposure probabilities are a crude measure of exposure.
Fedder, J; Loft, A; Parner, Erik Thorlund
STUDY QUESTION: Does neonatal outcome including congenital malformations in children born after ICSI with epididymal and testicular sperm [testicular sperm extraction (TESE)/percutaneous epididymal sperm aspiration (PESA)/testicular sperm aspiration (TESA) (TPT)] differ from neonatal outcome...... in children born after ICSI with ejaculated sperm, IVF and natural conception (NC)? SUMMARY ANSWER: Children born after TPT have similar neonatal outcome, including total malformation rates, as have children born after ICSI and IVF with ejaculated sperm. Testing for variance over the four groups may indicate...... groups. STUDY DESIGN, SIZE, DURATION: Population-based cohort study including all Danish children born after TPT and fresh embryo transfer in Denmark from 1995 to 2009. Children born after transfer of frozen-thawed embryos were excluded. Control groups of children conceived by ICSI with ejaculated sperm...
Full Text Available Introduction: Despite the discovery of insulin and current improvement in diabetics care, congenital malformations in diabetics are still more frequent than in the general population. The aim of this study was to identify congenital heart dieases (CHD in the newborns of diabetic mothers (IDMS. Methods: In our prospective study, color doppler echocardiography was performed in 75 consecutive full- term newborns of diabetic mothers by GE Vivid3 echocardiographic device. Newborns were classified into two subgroups according to the type of the mothers’ diabetes: pre-gestational and gestational. They were also those were classified into three subgroups according to their birth weight: appropriate, large and small for gestational age. Data analysis was made by Fisher exact test and Chi-Square test. Results: Forty nine (65% and thirty six (35% of subjects were infants of gestational (IGDM and pre-gestational diabetic mothers (IPDM, respectively. Fifty five Newborns (73% were apropriate, fourteen (19% were large and six (8% were small for gestational age. The most common echocardiographic findings included: patent ductus arteriosus (PDA: 54.7%, hypertrophic cardiomyopathy (HCMP: 24%, ventricular septal defect (VSD: 4%, atrial septal defect (ASD: 2.7%, transposition of great arteries (TGA: 1.3% and coarctation of the Aorta (COA: 1.3%. Overall incidence of congenital heart diseases was 9.3 after exclusion of PDA and HCMP cases. The incidence of congenital heart diseases was higher in macrosomic than nonmacrosomic infants of diabetic mothers (P<0.001. Congenital heart diseases were more common in infants of pre-gestational than gestational diabetic mothers (P=0.004. Conclusion: Our results showed that diabetic mothers are at increased risk of giving birth to a newborn with congenital heart disease, and transthoracic echocardiography is recommended for all infants of diabetic mothers.
Full Text Available Purpose: To present a single-center experience with 25 cases of bronchopulmonary malformations and the review the literature. Materials and Methods: We conducted a retrospective analysis of the medical records of patients with congenital bronchopulmonary malformations who were operated between July 1997 and July 2007 in our institute; we examined the modes of presentations, management, and outcome. Outcome of all patients was assessed over a short follow-up period (average 1.8 months. Results: Out of 25 patients, 18 (72% were male and 7 (28% were female. Age of patients ranged from 1 day to 11 years. The histopathological diagnosis was congenital cystic adenomatoid malformations [CCAM; n = 14 (56%], congenital lobar emphysema [CLE; n = 5 (20%], pulmonary sequestrations [PS; n = 3 (12%], and bronchogenic cysts [BC; n = 3 (12%]. Antenatal diagnosis was available in only 2 (8% patients. The common presenting symptoms were respiratory distress and chest infections. Lobectomy was the procedure of choice . Mortality was 16% (n = 4; M: F = 3: 1. Two patients died because of overwhelming sepsis, one from compromised cardiac function, and one from aspiration which might possibly have been prevented. Conclusion: Patients with progressive respiratory distress due to these anomalies may require urgent surgical intervention regardless of age. The surgical outcome is favorable, with manageable complications. Plain x-ray chest and CT of thorax are usually sufficient for diagnosis and planning of treatment. Pathological diagnosis may differ from the imaging diagnosis. Mortality is found to be more in neonates. Apart from initial stabilization, resection of lesion and careful postoperative care is necessary to reduce mortality and morbidity.
Kaltenbrun, Erin; Tandon, Panna; Amin, Nirav M.; Waldron, Lauren; Showell, Chris; Conlon, Frank L.
Congenital heart defects affect nearly 1% of all newborns and are a significant cause of infant death. Clinical studies have identified a number of congenital heart syndromes associated with mutations in genes that are involved in the complex process of cardiogenesis. The African clawed frog, Xenopus, has been instrumental in studies of vertebrate heart development and provides a valuable tool to investigate the molecular mechanisms underlying human congenital heart diseases. In this review, we discuss the methodologies that make Xenopus an ideal model system to investigate heart development and disease. We also outline congenital heart conditions linked to cardiac genes that have been well-studied in Xenopus and describe some emerging technologies that will further aid in the study of these complex syndromes. PMID:21538812
Agarwal, Neha; Chopra, Seema; Aggarwal, Neelam; Gorsi, Ujjwal
Congenital uterine arteriovenous malformation (AVM) is an extremely rare condition with AVM. Subsequently, computed tomography (CT) angiography confirmed the diagnosis. Embolization was chosen as the treatment because of the large extension of AVM and the risk of hemorrhage during hysterectomy. The patient was discharged in a stable condition with a plan of repeat embolization in the next setting. At 6 and 12 weeks of follow-up, she did not experience any further episodes of bleed. The purpose of this case report is to highlight the salient clinical features, diagnosis, and the management options available for this rare clinical condition.
Owada, Keiho; Miyazaki, Osamu; Nosaka, Shunsuke [National Center for Child Health and Development, Department of Radiology, Tokyo (Japan); Matsuoka, Kentaro [National Center for Child Health and Development, Department of Pathology, Tokyo (Japan); Sago, Haruhiko [National Center for Child Health and Development, Department of Perinatal Medicine and Maternal Care, Tokyo (Japan)
Congenital pulmonary airway malformation (CPAM) is classified into pathologically different types. These types are sometimes distinguishable by fetal lung MRI and are usually observed as higher-signal lesions on T2-weighted images than normal lung. We describe a case of unusual CPAM resembling neoplasms, with a lower signal than is found in normal lung. Histopathology showed a large number of mucogenic cells but found no evidence that could explain this feature on fetal MRI. An unusual low-signal mass associated with a pulmonary cyst in fetal lung on MRI may suggest an unusual type 1 CPAM. (orig.)
Full Text Available Irene Petersen,1,2 Shuk-Li Collings,1,3 Rachel L McCrea,1 Irwin Nazareth,1 David P Osborn,4 Phil J Cowen,5 Cormac J Sammon1 1Department of Primary Care and Population Health, University College London, London, UK; 2Department of Clinical Epidemiology, Aarhus University, Aarhus N, Denmark; 3OXON Epidemiology, London, UK; 4Division of Psychiatry, University College London, London, UK; 5University Department of Psychiatry, Warneford Hospital, Oxford, UK Objective: The aim of this study was to examine the prevalence of major congenital malformations associated with antiepileptic drug (AED treatment in pregnancy.Patients and methods: Using data from The Health Improvement Network, we identified women who have given live birth and their offspring. Four subgroups were selected based on the AED treatment in early pregnancy, valproate, carbamazepine, lamotrigine and women not receiving AED treatment. We compared the prevalence of major congenital malformations within children of these four groups and estimated prevalence ratios (PRs using Poisson regression adjusted for maternal age, sex of child, quintiles of Townsend deprivation score and indication for treatment.Results: In total, 240,071 women were included in the study. A total of 229 women were prescribed valproate in pregnancy, 357 were prescribed lamotrigine and 334 were prescribed carbamazepine and 239,151 women were not prescribed AEDs. Fifteen out of 229 (6.6% women prescribed valproate gave birth to a child with a major congenital malformation. The figures for lamotrigine, carbamazepine and women not prescribed AEDs were 2.7%, 3.3% and 2.2%, respectively. The prevalence of major congenital malformation was similar for women prescribed lamotrigine or carbamazepine compared to women with no AED treatment in pregnancy. For women prescribed valproate in polytherapy, the prevalence was fourfold higher. After adjustments, the effect of estimates attenuated, but the prevalence remained two- to
Bosser, Gilles; Moulin-Zinsch, Anne; Fischer-Atalla, Reem
The practice of physical activity is one of the essential elements for health in general but also for the well-being and the quality of life. It is highly desirable to encourage physical activities in children with congenital heart diseases, taking into account all the benefits associated with this practice (quality of life, life expectancy) and this especially since these children often have limited capacity (due to their heart disease but also often by relative deconditioning). While there is a transient increase in risk of cardiac complications during intense activity, it would nevertheless be inappropriate to contra-indicate physical activities considering the well-known benefits in the medium and long term. The risks associated with the practice of physical activity must be assessed, on one hand, in terms of the severity of the heart disease, and on the other hand, on the nature and intensity of the activity. The stress test is here an essential tool because it helps to assess the physical capacity and cardiorespiratory adaptations to exercise. The international recommendations for competitive sports generally give an appropriate advice for a specific situation but the practice of moderate activity or leisure sports which are highly desirable should not be neglected and be strongly encouraged. Copyright © 2017 Elsevier Masson SAS. All rights reserved.
Full Text Available Congenital heart disease is the most common congenital defect. During childhood, survival is generally good but, in adulthood, late complications are not uncommon. Abnormal autonomic control in children with congenital heart disease may contribute considerably to the pathophysiology of these long term sequelae. This narrative review of 34 studies aims to summarize current knowledge on function of the autonomic nervous system in children with a congenital heart defect. Large scale studies that measure both branches of the nervous system for prolonged periods of time in well-defined patient cohorts in various phases of childhood and adolescence are currently lacking. Pending such studies, there is not yet a good grasp on the extent and direction of sympathetic and parasympathetic autonomic function in pediatric congenital heart disease. Longitudinal studies in homogenous patient groups linking autonomic nervous system function and clinical outcome are warranted.
Nederend, Ineke; Jongbloed, Monique R M; de Geus, Eco J C; Blom, Nico A; Ten Harkel, Arend D J
Congenital heart disease is the most common congenital defect. During childhood, survival is generally good but, in adulthood, late complications are not uncommon. Abnormal autonomic control in children with congenital heart disease may contribute considerably to the pathophysiology of these long term sequelae. This narrative review of 34 studies aims to summarize current knowledge on function of the autonomic nervous system in children with a congenital heart defect. Large scale studies that measure both branches of the nervous system for prolonged periods of time in well-defined patient cohorts in various phases of childhood and adolescence are currently lacking. Pending such studies, there is not yet a good grasp on the extent and direction of sympathetic and parasympathetic autonomic function in pediatric congenital heart disease. Longitudinal studies in homogenous patient groups linking autonomic nervous system function and clinical outcome are warranted.
Verheugt, Carianne L; Uiterwaal, Cuno Spm; Vaartjes, Ilonca; van der Velde, Enno T; Zomer, A C; Meijboom, Folkert J; Pieper, Petronella G; Post, Marco C; Vliegen, Hubert W; Hazekamp, Mark G; Grobbee, Diederick E; Mulder, Barbara Jm
Background Young patients with congenital heart disease reaching adulthood face mandatory transition to adult cardiology. Their new cardiologist needs to assess the chances of major future events such as surgery. Using a large national registry, we assessed if patient characteristics at the age of 18 years could predict the chance of congenital heart surgery in adulthood. Design and methods Of 10,300 patients from the CONCOR national registry, we used general patient characteristics at age 18 years, underlying congenital heart defect, history of complications, and interventions in childhood as potential predictors of congenital heart surgery occurring from age 18 years up to age 40 and 60 years. Cox regression was used to calculate hazard ratios with 95% confidence intervals. Analyses were performed separately for all congenital heart surgery and for valvular surgery alone. Results Altogether 2427 patients underwent congenital heart surgery after age 18 years, 1389 of whom underwent valvular surgery. Underlying heart defect, male sex, multiple defects, childhood endocarditis, supraventricular arrhythmia, aortic complications and paediatric cardiovascular surgery, independently predicted adult congenital heart surgery. The mean chance of congenital heart surgery was 22% up to age 40 and 43% up to age 60 years; individual chances spanned from 9-68% up to age 40 and from 19-93% up to age 60 years. Conclusion At the time of transition from paediatric to adult cardiology, an easily obtainable set of characteristics of patients with congenital heart disease can meaningfully inform cardiologists about the patient's individual chance of surgery in adulthood. Our findings warrant validation in other cohorts.
Bay Bjørn, Anne-Mette; Ehrenstein, Vera; Hundborg, Heidi Holmager
Corticosteroids are commonly used to treat inflammatory diseases. There is conflicting evidence regarding the association of corticosteroid use in pregnancy and congenital malformations in offspring. We conducted a prevalence study of 83,043 primiparous women who gave birth to a live-born singleton...... in northern Denmark, in 1999-2009. Through medical registries, we identified prescriptions for corticosteroids, congenital malformations, and covariates. Furthermore, we summarized the literature on this topic. Overall, 1449 women (1.7%) used inhaled or oral corticosteroids from 30 days before conception...... to published studies, the use of corticosteroids in early pregnancy was associated with congenital malformations overall with relative estimates ranging from 0.8 (95% CI, 0.4-1.7) to 2.1 (95% CI, 0.5-9.6). For oral clefts, the ORs ranged from 0.6 (95% CI, 0.2-1.7) to 5.2 (95% CI, 1.5-17.1). We found...
Costain, Gregory; Silversides, Candice K; Bassett, Anne S
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
Nydegger, Andreas; Bines, Julie E
Failure to thrive is common in children with congenital heart disease and influences the metabolic response to injury and outcome after corrective cardiac surgery. Energy imbalance is a major contributing factor. However, the published literature is difficult to interpret as studies generally involve small patient numbers with a diverse range of types and severity of cardiac lesions and genetic and/or prenatal factors. The age and time of corrective surgery affects the potential for nutritional recovery. Although the immediate postoperative period is characterized by a hypermetabolic state, low total and resting energy expenditure are reported within 24 h of surgery. After 5 d, resting energy expenditure returns to preoperative levels. Significant improvements in weight and growth occur within months after corrective surgery. However, limited postoperative recovery in nutritional status and growth occurs in infants with a low birth weight, intellectual deficit, or residual malformation. Further studies are needed to inform the timing of corrective cardiac surgery to maximize nutritional outcomes and to identify those infants who may benefit from aggressive preoperative nutrition support.
Adaletli, Ibrahim; Kurugoglu, Sebuh; Kilic, Fahrettin [Istanbul University, Department of Radiology, Cerrahpasa Medical Faculty (Turkey); Senyuz, Osman F. [Istanbul University, Department of Paediatric Surgery, Cerrahpasa Medical Faculty (Turkey); Dervisoglu, Sergulen [Istanbul University, Department of Pathology, Cerrahpasa Medical Faculty (Turkey)
Although hepatic arteriovenous malformations are rarely reported, they frequently have life-threatening complications such as cardiac failure and are associated with a high mortality rate. Consequently, accurate prenatal and early postnatal diagnosis is important and therapeutic procedures depend on the imaging features. We report the early postnatal sonographic, Doppler sonographic, multidetector CT and CT angiography findings of a congenital hepatic arteriovenous malformation in a newborn. (orig.)
Cools, E; Missant, C
In this literature review, we try to give anesthesiologists a better understanding about Junctional Ectopic Tachycardia (JET), a narrow complex tachycardia that frequently occurs during and after surgery for congenital heart disease. Information was found in the databases of Pubmed, Science Direct, Medline and the Cochrane Library, by using the mesh terms "Tachycardia, Ectopic Junctional", combined with "Diagnosis", "Etiology", "Physiopathology", "Complications" and "Therapy". The publication date of the articles ranged from 1990 to 2012. Risk factors for the development JET are surgery near the AV node, a duration of cardiopulmonary bypass longer than 90 minutes, young age, the use of inotropic drugs and hypomagnesaemia. The diagnosis of Junctional Ectopic Tachycardia can be made on a 12-lead ECG, demonstrating a narrow-complex tachycardia with inverted P-waves and VA dissociation. Adenosine administration and an atrial electrocardiogram can help to confirm the diagnosis. If JET has a minimal impact on the hemodynamic status of the patient, risk factors should be avoided and the adrenergic tonus should be reduced. Hemodynamic unstable JET can be treated by amiodarone, hypothermia and pacing. Extracorporeal membrane oxygenation (ECMO) and radiofrequency or cryoablation are treatment options for life-threatening and resistant JET. JET is the most frequent arrhythmia during and after congenital cardiac surgery. The ECG is the only available method to diagnose JET, demonstrating inverted P-waves and VA-dissociation. Amiodarone seems to be the most effective treatment option, because it can restore sinus rhythm and reduces the JET rate.
Conclusions: Prenatal diagnosis of major congenital malformations should alert one to the possibility of chromosomal abnormalities. Multiplex ligation-dependent probe amplification and aCGH have the advantage of rapid aneuploidy diagnosis of common aneuploidies in cases with major congenital malformations.
embryological development of the heart involves complex interactions between components of the developing heart-tube and the lungs (15). The complexity of these interactions could provide the substrate for an increased likelihood of malformations in settings of nutritional inadequacy. The mean age at confirmation of a ...
Yang, X F; Zhang, Y F; Zhao, C F; Liu, M M; Si, J P; Fang, Y F; Xing, W W; Wang, F L
Congenital heart disease in children is a type of birth defect. Previous studies have suggested that the transcription factor, TBX20, is involved in the occurrence and development of congenital heart disease in children; however, the specific regulatory mechanisms are yet to be evaluated. Hence, this study aimed to evaluate the relationship between the TBX20 polymorphism and the occurrence and development of congenital heart disease. The TBX20 gene sequence was obtained from the NCBI database and the polymorphic locus candidate was predicted. Thereafter, the specific gene primers were designed for the restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) of DNA extracted from the blood of 80 patients with congenital heart disease and 80 controls. The results of the PCR were subjected to correlation analysis to identify the differences between the amplicons and to determine the relationship between the TBX20 gene polymorphism and congenital heart disease. One of the single nucleotide polymorphic locus was found to be rs3999950: c.774T>C (Ala265Ala). The TC genotype frequency in the patients was higher than that in the controls, similar to that for the C locus. The odds ratio of the TC genotypes was above 1, indicating that the presence of the TC genotype increases the incidence of congenital heart diseases. Thus, rs3999950 may be associated with congenital heart disease, and TBX20 may predispose children to the defect.
Bhardwaj, Ritu; Rai, Sunil Kumar; Yadav, Abhishek Kumar; Lakhotia, Siddharth; Agrawal, Damyanti; Kumar, Ashok; Mohapatra, Bhagyalaxmi
Congenital heart defects (CHDs) affect a large number of newborns and account for a high proportion of infant mortality worldwide. There are regional differences in the prevalence and distribution pattern of CHDs. The aim of this study is to estimate the distribution pattern and prevalence of CHDs among the population of north-central India and to compare the results with studies in other regions of the country to get an overview of prevalence of CHDs in India. We carried out a prospective study in the outpatient department of a tertiary care referral center in north-central India. This study was carried out from January 2011 to April 2014, with 34 517 individuals being recruited for the study. All patients were examined by chest x-ray, electrocardiogram, and 2D echocardiography. Prevalence rate per 1000 individuals examined was calculated. Relative frequencies of individual CHD types as a proportion of total CHDs were also calculated. Out of 34 517 individuals examined, 661 were diagnosed with CHDs, giving a prevalence of 19.14 per 1000 individuals. The most common defect was ventricular septal defect (33%), followed by atrial septal defect (19%) and tetralogy of Fallot (16%). The majority of CHD cases (58%) diagnosed were between 0 and 5 years of age. The prevalence of CHDs in adults was 2.4 per 1000 individuals in this cohort, with atrial septal defect (44.5%) being the most frequent defect. The prevalence of CHDs in our cohort was high, possibly because of the power of the diagnostic methods we used and the inclusion of all age groups. Adults with CHDs may significantly contribute to the prevalence of CHDs in the next generation, and this needs to be considered when estimating prevalence rates. Although several small regional studies have been carried out in India, there is an urgent need to establish a nationwide registry/database for congenital heart defects. © 2014 Wiley Periodicals, Inc.
Cornel, Martina C; Houwink, Elisa J F; Houwink, Pieter E F
In the Born in Bradford study, an increased risk for congenital anomalies was found in the Pakistani subpopulation of Bradford, where cousin marriage is relatively frequent. While consanguinity may be associated with a risk for congenital malformations, it does not prove a causal relationship. Whatever the case, high perinatal mortality as well as the high prevalence of congenital anomalies are good reasons for implementing the knowledge on reproductive risks that has been available for many years. Well-known risk factors include higher maternal age, that was associated with congenital anomalies in the British mothers. Further research in an intervention study may provide more data on whether the associations found are causal. Implementing preconception care should involve primary care physicians, who need both facilities and training. In the Netherlands, the high perinatal mortality, especially in some big cities, could profit from similar interventions. Dutch primary care physicians consider it their responsibility to discuss consanguinity with patients, although there is some reluctance because of anticipated religious and social value conflicts. Without information reaching the target populations, they may lack awareness and will not ask for information themselves. People from Dutch migrant groups would prefer to be informed about reproductive risks of consanguinity by their primary care physicians.
Full Text Available Inborn cardiac diseases are among the most frequent congenital anomalies and are the main cause of death in infants within the first year of age in industrialized countries when not adequately treated. They can be divided into simple and complex cardiac malformations. The former ones, for instance atrial and ventricular septal defects, valvular or subvalvular stenosis or insufficiency account for up to 80% of cardiac abnormalities. The latter ones, for example transposition of the great vessels, Tetralogy of Fallot or Shone's anomaly often do not involve only the heart but also the great vessels and although occurring less frequently these severe cardiac malformations will become symptomatically within the first months of age and have a high risk of mortality if the patients remain untreated. In the last decade there is increasing evidence that cardiac gap junction proteins, the connexins (Cx, might have an impact on cardiac anomalies. In the heart mainly three of them (Cx40, Cx43 and Cx45 are differentially expressed with regard to temporal organogenesis and to their spatial distribution in the heart. These proteins, forming gap junction channels, are most important for a normal electrical conduction and coordinated synchronous heart muscle contraction and also for the normal embryonic development of the heart. Animal and also some human studies revealed that at least in some cardiac malformations alterations in certain gap junction proteins are present but until today no particular gap junction mutation could be assigned to a specific cardiac anomaly. As gap junctions transmit growth and differentiation signals from cell to cell it is reasonable to assume that they are somehow involved in misdirected growth present in many inborn heart diseases playing a primary or contributory role. This review addresses potential role of gap junctions in the development of inborn heart anomalies like the conotruncal heart defects.
Lin, Yun-Hua; Xiao, Qian; Wang, Jun-Sheng; Jiang, Yong-Guang
To study the concurrence of congenital heart disease and hypospadias and the relationship between the two diseases. We investigated the incidence and types of congenital heart disease accompanied by hypospadias in male children received in our hospital from January 2002 to December 2012, compared them with those in the general population, and analyzed the correlation of different types of heart disease with the incidence rate of hypospadias. Of the 7 385 male children with congenital heart disease, 134 (1.81%) were found with hypospadias, with a significantly higher morbidity than in the general population (0.33% -0.40%) (P congenital heart abnormalities (21/972, 2.16%) than in the atrial septal defect (10/1 015, 0.99%) and patent ductus arteriosus (6/565, 1.06%) groups (P type of hypospadias among different heart disease groups (P > 0.05). Hypospadias is a common concurrent condition in male children with congenital heart disease. The incidence rate of hypospadias is related with the type of congenital heart disease, and the two conditions may have some common pathogenic or susceptive factors.
Sing, T.M.Y.S.; Wong, K.P.; Young, N. [Westmead Hospital, Westmead, NSW, (Australia). Department of Radiaology; Le, S.D.V. [Bankstown-Lidcombe Hospital, Bankstown, NSW, (Australia). Department of Nuclear Medicine and Ultrasound
Congenital intrahepatic arterioportal venous malformations (APVM) are uncommon lesions. A congenital intrahepatic APVM found incidentally in a 51 -year-old man during pre-operative aortography for an abdominal aortic aneurysm is reported here. This was successfully treated by transcatheter embolization of the involved hepatic artery prior to surgical repair of the aortic aneurysm. A 51-year-old smoker was admitted for pre-operative aortography of an abdominal aortic aneurysm (AAA). Liver function tests showed a mildly elevated alkaline phosphatase. There was no previous history of liver disease or trauma. Aortography demonstrated a large infra-renal AAA measuring 10 cm in diameter and 20 cm in length. The coeliac axis was noted to be grossly dilated with tortuous veins seen to the right side of the lower thoracic spine on delayed images. Coeliac angiography revealed a dilated intrahepatic vascular abnormality in the left lobe of the liver with late opacification of the portal vein. Contrast abdominal CT demonstrated the AAA and the dilated coeliac axis feeding a large vascular malformation in the lateral aspect of the left lobe of the liver. The arterial inflow was via the left hepatic artery and a large vein was seen leading into the left portal vein. Endoscopy showed no oesophageal varices. (authors). 11 refs., 7 figs.
Landau, D; Novack, L; Yitshak-Sade, M; Sarov, B; Kloog, I; Hershkovitz, R; Grotto, I; Karakis, I
Nitrogen Dioxide (NO2) is a product of fuel combustion originating mainly from industry and transportation. Studies suggest an association between NO2 and congenital malformations (CM). We investigated an independent effect of NO2 on CM by adjusting to individual factors and household environment in 1024 Bedouin-Arab pregnant women in southern Israel. This population is characterised by high rates of CMs, frequent consanguineous marriages, paternal smoking, temporary housing and usage of open fire for heat cooking. Information on household risk factors was collected during an interview. Ambient measurements of 24-h average NO2 and meteorological conditions were obtained from 13 local monitors. Median value of daily NO2 measured in the area was 6.78ppb. CM was diagnosed in 8.0% (82) of offspring. Maternal NO2 exposure during the 1st trimester >8.6ppb was significantly associated with minor CM (RR=2.68, p=0.029). Major CM were independently associated with maternal juvenile diabetes (RR=9.97, p-value=0.002) and heating by open fire (RR=2.00, p-value=0.049), but not NO2 exposure. We found that NO2 emissions had an independent impact only on minor malformations, whereas major malformations depended mostly on the household environment. Antepartum deaths were associated by maternal morbidity. Copyright © 2015 Elsevier Ltd. All rights reserved.
Kumar, Vivek; Kumar, Gaurav; Joshi, Sajan; Sharma, Vipul
We report two cases of malignant junctional ectopic tachycardia (JET), in infants following congenital heart surgery. After the failure of conventional therapy the arrhythmia was controlled by oral Ivabradine, a drug which is routinely used to lower heart rate in angina and heart failure in adult practice. Copyright © 2017 Cardiological Society of India. Published by Elsevier B.V. All rights reserved.
Häcker, Anna-Luisa; Reiner, Barbara; Oberhoffer, Renate; Hager, Alfred; Ewert, Peter; Müller, Jan
Objective Central systolic blood pressure (SBP) is a measure of arterial stiffness and strongly associated with atherosclerosis and end-organ damage. It is a stronger predictor of cardiovascular events and all-cause mortality than peripheral SBP. In particular, for children with congenital heart disease, a higher central SBP might impose a greater threat of cardiac damage. The aim of the study was to analyse and compare central SBP in children with congenital heart disease and in healthy counterparts. Patients and methods Central SBP was measured using an oscillometric method in 417 children (38.9% girls, 13.0 ± 3.2 years) with various congenital heart diseases between July 2014 and February 2017. The test results were compared with a recent healthy reference cohort of 1466 children (49.5% girls, 12.9 ± 2.5 years). Results After correction for several covariates in a general linear model, central SBP of children with congenital heart disease was significantly increased (congenital heart disease: 102.1 ± 10.2 vs. healthy reference cohort: 100.4 ± 8.6, p heart disease subgroups revealed higher central SBP in children with left heart obstructions (mean difference: 3.6 mmHg, p hearts after total cavopulmonary connection (mean difference: 2.1 mmHg, p = .015) compared with the reference. Conclusion Children with congenital heart disease have significantly higher central SBP compared with healthy peers, predisposing them to premature heart failure. Screening and long-term observations of central SBP in children with congenital heart disease seems warranted in order to evaluate the need for treatment.
van Beynum, Ingrid M.; Kapusta, Livia; Bakker, Marian K.; den Heijer, Martin; Blom, Henk J.; de Walle, Hermien E. K.
To investigate the potentially protective of periconceptional folic acid use on the risk of congenital heart defects (CHDs) relative to other non-folate related malformations. We analysed data from a large regional register of birth defects (EUROCAT-Northern Netherlands), over a 10 year period
Beijnum, I.M. van; Kapusta, L.; Bakker, M.K.; Heijer, M. den; Blom, H.J.; Walle, H.E. de
AIMS: To investigate the potentially protective of periconceptional folic acid use on the risk of congenital heart defects (CHDs) relative to other non-folate related malformations. METHODS AND RESULTS: We analysed data from a large regional register of birth defects (EUROCAT-Northern Netherlands),
Sinkovskaya, Elena S; Chaoui, Rabih; Karl, Katrin; Andreeva, Elena; Zhuchenko, Ludmila; Abuhamad, Alfred Z
To investigate the association between cardiac axis and fetal congenital heart defects to demonstrate the potential clinical applicability of cardiac axis measurement for detection of congenital heart defect in early gestation. This case-control study was undertaken in three tertiary centers with expertise in fetal imaging in early gestation. Fetal cardiac axis was evaluated between 11 0/7 and 14 6/7 weeks of gestation in 197 fetuses with confirmed congenital heart defects. A control group was selected by matching each fetus with a congenital heart defect with two fetuses in the control group with similar crown-rump length (± 5 mm) and date of study (± 2 months). Cardiac axis was measured on the four-chamber view as the angle between the line that traces the long axis of the heart and the line that bisects the thorax in an anteroposterior direction. In the control group, mean cardiac axis was 44.5 ± 7.4°. The cardiac axis did not significantly change in early pregnancy. In the congenital heart defect group, 25.9% of fetuses had cardiac axis measurements within normal limits. In 74.1%, the cardiac axis was abnormal including 110 fetuses in the case group with left deviation (cardiac axis > 97.5th percentile), 19 fetuses in the case group with right deviation (cardiac axis axis. The performance of cardiac axis measurement in detection of major congenital heart defect was significantly better than enlarged nuchal translucency, tricuspid regurgitation, or reversed A-wave in ductus venosus used alone or in combination. Abnormal cardiac axis is present in two-thirds of fetuses with congenital heart defect in early gestation. Adding cardiac axis assessment to the nuchal translucency measurement is helpful in defining a population at risk for fetal congenital heart defect.
Pereira, Karine da Rosa; Firpo, Cora; Gasparin, Marisa; Teixeira, Adriane Ribeiro; Dornelles, Silvia; Bacaltchuk, Tzvi; Levy, Deborah Salle
Introduction Surgical repair of congenital heart disease in the first years of life compromises the coordination of the suction, breathing, and swallowing functions. Objective To describe the alterations in swallowing found in infants with congenital heart defect during their hospitalization. Methods Prospective, cross-sectional study in a reference hospital for heart disease. The sample consisted of 19 postsurgical patients who underwent an evaluation of swallowing. The infants included were younger than 7 months and had a diagnosis of congenital heart defect and suspected swallowing difficulties. Results Of the 19 infants with congenital heart defect, the median age was 3.2 months. A significant association was found between suction rhythm and dysphagia (p = 0.036) and between oral-motor oral feeding readiness and dysphagia (p = 0.014). Conclusions The data suggest that dysphagia often occurs after surgery in infants with congenital heart defect. Infants with congenital heart defect had very similar behavior to preterm infants in terms of oral feeding readiness.
Pereira, Karine da Rosa
Full Text Available Introduction Surgical repair of congenital heart disease in the first years of life compromises the coordination of the suction, breathing, and swallowing functions. Objective To describe the alterations in swallowing found in infants with congenital heart defect during their hospitalization. Methods Prospective, cross-sectional study in a reference hospital for heart disease. The sample consisted of 19 postsurgical patients who underwent an evaluation of swallowing. The infants included were younger than 7 months and had a diagnosis of congenital heart defect and suspected swallowing difficulties. Results Of the 19 infants with congenital heart defect, the median age was 3.2 months. A significant association was found between suction rhythm and dysphagia (p = 0.036 and between oral-motor oral feeding readiness and dysphagia (p = 0.014. Conclusions The data suggest that dysphagia often occurs after surgery in infants with congenital heart defect. Infants with congenital heart defect had very similar behavior to preterm infants in terms of oral feeding readiness.
% of congenital heart defects and has a high morbidity and mortality in neonates. Objective: The aim of this work was to study clinical profile and available therapeutic modalities used in the management of CCHD. Subjects ...
Drenthen, Willem; Boersma, Eric; Balci, Ali; Moons, Philip; Roos-Hesselink, Jolien W.; Mulder, Barbara J. M.; Vliegen, Hubert W.; van Dijk, Arie P. J.; Voors, Adriaan A.; Yap, Sing C.; van Veldhuisen, Dirk J.; Pieper, Petronella G.
Aims Data regarding pregnancy outcome in women with congenital heart disease (CHD) are limited. Methods and results In 1802 women with CHD, 1302 completed pregnancies were observed. Independent predictors of cardiac, obstetric, and neonatal complications were calculated using logistic regression.
Wernovsky, Gil; Rome, Jonathan J; Tabbutt, Sarah; Rychik, Jack; Cohen, Meryl S; Paridon, Stephen M; Webb, Gary; Dodds, Kathryn M; Gallagher, Maureen A; Fleck, Desiree A; Spray, Thomas L; Vetter, Victoria L; Gleason, Marie M
An increasingly complex group of children is now being followed as outpatients after surgery for congenital heart disease. A variety of complications and physiologic perturbations, both expected and unexpected, may present during follow-up, and should be anticipated by the practitioner and discussed with the patient and family. The purpose of this position article is to provide a framework for outpatient follow-up of complex congenital heart disease, based on a review of current literature and the experience of the authors.
Monteiro,Flávia Paula Magalhães; Araujo,Thelma Leite de; Lopes,Marcos Venícios de Oliveira; Chaves,Daniel Bruno Resende; Beltrão,Beatriz Amorim; Costa,Alice Gabrielle de Sousa
OBJECTIVE: to characterize nutritional status and variables that predict nutritional changes in children with congenital heart disease. METHOD: a cross-sectional study undertaken in two health institutions between January and June 2009, using a questionnaire with questions about nutrition, applied to 132 children under two years of age who had congenital heart disease. Children who had additional serious illnesses were excluded. RESULT: the predominant percentile values and Z scores were conc...
Majid Maleki; Shamsi Ghaffari; Mohammad Reza Ghaffari; Mahmood Samadi; Bahman Rastkar; Pooya Maleki; Sahar Behnam
The relationship between congenital heart disease and nephropathy has been known for a long time although its mechanism has not been understood thoroughly. Furthermore such studies have been performed in older populations. 74 children aged between two months to 168 months (20 normal as control group, 20 cyanotic and 34 acyanotic patients with congenital heart disease were investigated for their renal function and protein excretion. The data were analyzed using SPSS (version 16....
More children die from congenital heart defects (CHD) each year than are diagnosed with childhood cancer, yet the causes remain unknown. The remarkable conservation of genetic pathways regulating cardiac development in species ranging from flies to humans provides an opportunity to experimentally dissect the role of critical cardiogenic factors. Utilization of model biological systems has resulted in a molecular framework in which to consider the etiology of CHD. As whole genome sequencing and single nucleotide polymorphism data become available, identification of genetic mutations predisposing to CHD may allow preventive measures by modulation of secondary genetic or environmental factors. In this review, genetic pathways regulating cardiogenesis revealed by cross-species studies are reviewed and correlated with human CHD.
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
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.
Simmelink, Elisabeth K.; Rommers, Gerardus M.; Gardeniers, Jean W. M.; Zijlstra, Henk
Background: The problems of prescribing a prosthesis for a young girl with severe congenital vascular malformation deformity leading to a transtibial amputation. Case description and methods: Due to the high risk of recurrent bleeding and limitations regarding full weight bearing of the stump, a
Patra, Soumya; Rama Sastry, Usha M K; Mahimaiha, J; Subramanian, Anand P; Shankarappa, Ravindranath K; Nanjappa, Manjunath C
Cyanotic CHD comprises up to 25% of cases of all causes of CHD. There is lack of data about the present spectrum of congenital cyanotic heart disease in the paediatric age group. The present study was undertaken to determine the spectrum of patients with congenital cyanotic heart disease in the paediatric age group in tertiary paediatric cardiac care clinic. Prospective observational study. Paediatric cardiac clinic of a tertiary cardiac care centre. All children aged 0-18 years with suspected cyanotic CHD were provisionally included in this study. They underwent a thorough echocardiographic evaluation, and those patients who had definitive diagnosis of congenital cyanotic heart disease were included for final analysis. A total of 119 children met the inclusion criteria. Tetralogy of Fallot and its variant were the most common congenital cyanotic heart disease with proportion of about 44%. Other common malformations were double outlet right ventricle (14%), pulmonary atresia with ventricular septal defect (8%), total anomalous pulmonary venous connection (7%), d-transposition of the great arteries (9%), tricuspid valve anomalies--tricuspid atresia and Ebstein's anomaly--hypoplastic left-heart syndrome, truncus arteriosus, and complex CHD such as single ventricle. Tetralogy of Fallot and its variants were the most common cyanotic heart disease diagnosed in our patients. As there were a significant proportion of cases with complex cyanotic CHD, paediatric cardiologists should be familiar with the diagnosis and management of all these complex congenital malformations of the heart.
Nakao, Atsushi; Takeda, Tomohiro; Hisaeda, Yoshiya; Hirota, Atsushi; Amagata, Syusuke; Sakurai, Yuko; Kawakami, Tadashi
Pancreatic agenesis is a rare disease that causes neonatal diabetes mellitus and exocrine pancreatic insufficiency. We report the case of a very low birth weight infant with congenital diaphragmatic hernia, and congenital heart disease (ventricular septal defect and patent ductus arteriosus). Failure to gain weight, despite well-managed respiratory and heart failure, was improved by infusion of subcutaneous insulin, administration of pancreatic enzyme, and nutrition of medium-chain-triglyceri...
Karbassi, Arsha; Nair, Krishnakumar; Harris, Louise; Wald, Rachel M; Roche, S Lucy
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
Features of Somatic and Reproductive Status of Women, who Gave Birth to a Child with Congenital Malformations, and Their Identifiсation Using «Case — Control» Method According to Data of Lviv Regional Clinical Perinatal Center in 2007–2009
Zborovska N.V. Zborovska N.V.
While comparing a range of reproductive anamnesis indices there was noticed a higher percentage of dead children, stillbirths, anemia in pregnancy, gestosis in the first half of pregnancy, gestosis in the second half of pregnancy, abnormal labors in mothers who gave birth to a child with congenital malformations than in women of control group. According to ultrasound diagnosis congenital abnormalities in pregnancy were detected in 31.6 % of cases. There were diagnosed 4 cases of Arnold — Chiari syndrome (spina bifida and internal hydrocephalus; and 3 cases of each: hydrocephalus, gastroschisis, small intestinal atresia, and 2 cases of each: congenital malformations, hypoplastic left heart syndrome, Down’s syndrome, congenital diaphragmatic hernia, omphalocele, congenital rectal atresia, and 1 case of each: spina bifida, congenital absence of forearm and hand, left ventricular rabdomioma, encephalocele.
Murni, Indah K; MacLaren, Graeme; Morrow, Debra; Iyer, Parvathi; Duke, Trevor
Perioperative infections have significant consequences for children with congenital heart disease (CHD), which can manifest as acute or chronic infection followed by poor growth and progressive cardiac failure. The consequences include delayed or higher-risk surgery, and increased postoperative morbidity and mortality. A systematic search for studies evaluating the burden and interventions to reduce perioperative infections in children with CHD was undertaken using PubMed. Limited studies conducted in low- to middle-income countries demonstrated the large burden of perioperative infections among children with CHD. Most studies focussed on infections after surgery. Few studies evaluated strategies to prevent preoperative infection or the impact of infection on decision-making around the timing of surgery. Children with CHD have multiple risk factors for infections including delayed presentation, inadequate treatment of cardiac failure, and poor nutrition. The burden of perioperative infections is high among children with CHD, and studies evaluating the effectiveness of interventions to reduce these infections are lacking. As good nutrition, early corrective surgery, and measures to reduce nosocomial infection are likely to play a role, practical steps can be taken to make surgery safer.
Molck, Miriam Coelho; Simioni, Milena; Paiva Vieira, Társis; Sgardioli, Ilária Cristina; Paoli Monteiro, Fabíola; Souza, Josiane; Fett-Conte, Agnes Cristina; Félix, Têmis Maria; Lopes Monlléo, Isabella; Gil-da-Silva-Lopes, Vera Lúcia
To identify pathogenic genomic imbalances in patients presenting congenital heart disease (CHD) with extra cardiac anomalies and exclusion of 22q11.2 deletion syndrome (22q11.2 DS). 78 patients negative for the 22q11.2 deletion, previously screened by fluorescence in situ hybridization (FISH) and/or multiplex ligation probe amplification (MLPA) were tested by chromosomal microarray analysis (CMA). Clinically significant copy number variations (CNVs ≥300kb) were identified in 10% (8/78) of cases. In addition, potentially relevant CNVs were detected in two cases (993kb duplication in 15q21.1 and 706kb duplication in 2p22.3). Genes inside the CNV regions found in this study, such as IRX4, BMPR1A, SORBS2, ID2, ROCK2, E2F6, GATA4, SOX7, SEMAD6D, FBN1, and LTPB1 are known to participate in cardiac development and could be candidate genes for CHD. These data showed that patients presenting CHD with extra cardiac anomalies and exclusion of 22q11.2 DS should be investigated by CMA. The present study emphasizes the possible role of CNVs in CHD. Copyright © 2017 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.
Pincott, Emma Siân; Burch, Michael
This article reports on the evolving field of stem cell therapy and its impact on the management of cardiac pathology, in particular congenital heart disease. To date, stem cell therapy has focused on cardiomyoplasty for heart muscle disease, stem cell therapies are already in clinical use for these disorders. Research is now also supporting the potential role of stem cell therapy for congenital heart disease. In the future it may be possible to use stem cells to create cellular grafts and structures that may be surgically implanted into the disordered heart using bioengineering technology. Different types of stem cells have been evaluated and the identification of specific cardiac stem cells offers great potential. Preliminary animal studies investigating fetal cardiac therapies are also underway. These new directions for stem cell research provide exciting potential for the future management of congenital heart disease.
Subirana, M Teresa; Barón-Esquivias, Gonzalo; Manito, Nicolás; Oliver, José M; Ripoll, Tomás; Lambert, Jose Luis; Zunzunegui, José L; Bover, Ramon; García-Pinilla, José Manuel
This article presents the most relevant developments in 2013 in 3 key areas of cardiology: congenital heart disease, clinical cardiology, and heart failure and transplant. Within the area of congenital heart disease, we reviewed contributions related to sudden death in adult congenital heart disease, the importance of specific echocardiographic parameters in assessing the systemic right ventricle, problems in patients with repaired tetralogy of Fallot and indication for pulmonary valve replacement, and confirmation of the role of specific factors in the selection of candidates for Fontan surgery. The most recent publications in clinical cardiology include a study by a European working group on correct diagnostic work-up in cardiomyopathies, studies on the cost-effectiveness of percutaneous aortic valve implantation, a consensus document on the management of type B aortic dissection, and guidelines on aortic valve and ascending aortic disease. The most noteworthy developments in heart failure and transplantation include new American guidelines on heart failure, therapeutic advances in acute heart failure (serelaxin), the management of comorbidities such as iron deficiency, risk assessment using new biomarkers, and advances in ventricular assist devices. Copyright © 2013 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.
Lin, Shao; Herdt-Losavio, Michele; Gensburg, Lenore; Marshall, Elizabeth; Druschel, Charlotte
Asthma is a common problem that complicates pregnancy. Several drugs are considered acceptable for use during pregnancy, although none have been classified as safe. Few studies have assessed the health impact of maternal asthma/medication use on the fetus. A population-based case-control study was conducted in New York State to determine if cardiac congenital malformations in offspring were associated with maternal use of asthma medication and/or maternal asthma. Cases were cardiac anomalies in the New York State Congenital Malformations Registry. Controls were live births without any major birth defects randomly selected from birth certificates and frequency matched by year of birth. Data were collected through a 30 min telephone interview. Exposure was maternal asthma/medication use, maternal asthma/no medication use, no asthma/medication use, and no asthma/no medication use (reference). A total of 502 (59.4%) cases and 1,066 (53.8%) controls participated. A positive association was seen between any heart defect and women with asthma who used medication (OR 2.38; 95% CI: 1.18, 4.82). No significant associations were observed between heart defects and either women with asthma who did not use medication or women without asthma who used asthma medications. When considering types of medication used, offspring of women with asthma who used bronchodilators had an increased risk of any heart defect (OR 2.20; 95%CI: 1.05, 4.61). These results suggest that both maternal asthma status (controlled vs. uncontrolled; severe vs. mild) and asthma medication use, particularly bronchodilators, may play a role in cardiac malformations in offspring. (c) 2008 Wiley-Liss, Inc.
Hamdan, Mohamed A; Chedid, Fares; Bekdache, Gharid N; Begam, Muzibunissa; Alsafi, Walaa; Sabri, Zainab; Mirghani, Hisham M
To report the perinatal pattern and outcome of fetuses with congenital heart disease (CHD) in consanguineous marriages. Retrospective chart review was performed for fetuses undergoing fetal echocardiography (FE) in our institution. The primary outcome was survival at 28 days after birth. Between 1 January 2005 and 31 December 2010, 1950 pregnant women carrying 2151 fetuses underwent a total of 2828 FEs. CHD was diagnosed in 152 fetuses (7.1%), and perinatal outcome was available in 120, among which 78 (65%) had consanguineous parents. Thirteen fetuses died in utero, while 86 (71.7%) survived. The most prevalent lesions included left heart obstruction (25.8%), conotruncal malformations (21.7%), septal defects (18.3%), and cardiomyopathy (15.8%). Correct diagnosis was achieved in 92.2% of the cases. Extracardiac malformations occurred in 48.3% of the fetuses and were associated with increased mortality regardless of the type of CHD (PConsanguinity contributes to a higher prevalence of fetal cardiac and non-cardiac malformations. The presence of extracardiac anomalies is associated with an increase in perinatal mortality.
Full Text Available A 34-year-old patient learned that she was 7 weeks pregnant while she was using topical isotretinoin + erythromycin gel for acne treatment and referred to Izmir Katip Celebi University Teratology Information Service for information regarding the risk of teratogenicity. Systemic use of isotretinoin is well-known for its teratogenic effects and case reports suggesting possible teratogenic effects regarding topical exposure to retinoids in pregnancy exist in the literature. However, findings reported in four prospective controlled studies do not suggest an increased congenital malformation risk in case of inadvertent exposure during pregnancy. This manuscript aims to give a summary and evaluation of available data for counseling pregnant patients regarding the possible teratogenic risk of inadvertent topical isotretinoin exposure during pregnancy. It also aims to emphasize the importance of increasing communication between pregnant patients, clinicians and teratology information services for the benefit of mother and unborn.
Full Text Available Congenital uterine arteriovenous malformation (AVM is an extremely rare condition with <100 cases documented in literature. We report multiparous women presenting to us with a history of postcoital bleed. Initial Doppler ultrasonography was consistent with features suggestive of AVM. Subsequently, computed tomography (CT angiography confirmed the diagnosis. Embolization was chosen as the treatment because of the large extension of AVM and the risk of hemorrhage during hysterectomy. The patient was discharged in a stable condition with a plan of repeat embolization in the next setting. At 6 and 12 weeks of follow-up, she did not experience any further episodes of bleed. The purpose of this case report is to highlight the salient clinical features, diagnosis, and the management options available for this rare clinical condition.
Tokita, Mari J; Braxton, Alicia A; Shao, Yunru; Lewis, Andrea M; Vincent, Marie; Küry, Sébastien; Besnard, Thomas; Isidor, Bertrand; Latypova, Xénia; Bézieau, Stéphane; Liu, Pengfei; Motter, Connie S; Melver, Catherine Ward; Robin, Nathaniel H; Infante, Elena M; McGuire, Marianne; El-Gharbawy, Areeg; Littlejohn, Rebecca O; McLean, Scott D; Bi, Weimin; Bacino, Carlos A; Lalani, Seema R; Scott, Daryl A; Eng, Christine M; Yang, Yaping; Schaaf, Christian P; Walkiewicz, Magdalena A
SON is a key component of the spliceosomal complex and a critical mediator of constitutive and alternative splicing. Additionally, SON has been shown to influence cell-cycle progression, genomic integrity, and maintenance of pluripotency in stem cell populations. The clear functional relevance of SON in coordinating essential cellular processes and its presence in diverse human tissues suggests that intact SON might be crucial for normal growth and development. However, the phenotypic effects of deleterious germline variants in SON have not been clearly defined. Herein, we describe seven unrelated individuals with de novo variants in SON and propose that deleterious variants in SON are associated with a severe multisystem disorder characterized by developmental delay, persistent feeding difficulties, and congenital malformations, including brain anomalies. Copyright © 2016 American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
Full Text Available The persistent or recurrent difficulties of the woman to allow vaginal entry of a penis, a finger, and/or any object, despite the woman’s expressed wish to do so” is vaginismus. Early traumatic sexual experiences (e.g. sexual abuse, religious orthodoxy, low self-esteem and body image, negative attitudes about sexuality, lack of knowledge about sex and fear responses are some of the traditional etiological correlates of vaginismus. Vaginismus is largely a diagnosis of exclusion. An interview is crucial in differentiating the causes of this disease and it should involve the following key questions: -whether the contraction of the vaginal muscles was recorded from the first sexual contact and still remains a need for sexual satisfaction is achieved without relations vaginal or -symptom occurs for some time and what circumstances it bound or -contraction of the muscles is independent of the will, reflex and is at the very idea of sexual intercourse, and -that the contraction of the vaginal muscles occurs when you try to enter the member into the vagina which is very painful. The physical, gynecological and sexuological examinations exclude local causes of the disease. The mainstay of treatment in the majority of cases is psychosexual support. The cause of organic vaginismus is congenital malformation of the genital tract. It results from abnormal development of genital paramesonephric (Müllerian ducts and the urogenital sinus, which are structures involved in the process of oviduct, uterus, and vagina organogenesis. This has strong implications in the practices of gynecology and sexuology in general, not only in adolescent gynecology and sexuology. Vaginismus with congenital malformation is animportant problem in these fields.
Jarząbek-Bielecka, Grażyna; Pisarska-Krawczyk, Magdalena; Kędzia, Witold; Mizgier, Małgorzata; Friebe, Zbigniew
The persistent or recurrent difficulties of the woman to allow vaginal entry of a penis, a finger, and/or any object, despite the woman's expressed wish to do so" is vaginismus. Early traumatic sexual experiences (e.g. sexual abuse), religious orthodoxy, low self-esteem and body image, negative attitudes about sexuality, lack of knowledge about sex and fear responses are some of the traditional etiological correlates of vaginismus. Vaginismus is largely a diagnosis of exclusion. An interview is crucial in differentiating the causes of this disease and it should involve the following key questions: -whether the contraction of the vaginal muscles was recorded from the first sexual contact and still remains a need for sexual satisfaction is achieved without relations vaginal or -symptom occurs for some time and what circumstances it bound or -contraction of the muscles is independent of the will, reflex and is at the very idea of sexual intercourse, and -that the contraction of the vaginal muscles occurs when you try to enter the member into the vagina which is very painful. The physical, gynecological and sexuological examinations exclude local causes of the disease. The mainstay of treatment in the majority of cases is psychosexual support. The cause of organic vaginismus is congenital malformation of the genital tract. It results from abnormal development of genital paramesonephric (Müllerian) ducts and the urogenital sinus, which are structures involved in the process of oviduct, uterus, and vagina organogenesis. This has strong implications in the practices of gynecology and sexuology in general, not only in adolescent gynecology and sexuology. Vaginismus with congenital malformation is an important problem in these fields.
Full Text Available Objectives: The aims of this study were: to evaluate the prevalence of abdominal wall defects in the Polish population, to analyze temporal trends in the prevalence, to identify areas (clusters of high risk of abdominal wall defects, and to characterize, with respect to epidemiology, children with abdominal wall defects and their mothers in the area defined as a cluster. Material and Methods: We used isolated congenital malformations (gastroschisis Q79.3 and omphalocele Q79.2 according to the International Statistical Classification of Diseases and Related Health Problems, 10th revision (ICD-10, the extended version data reported to the Polish Registry of Congenital Malformations (PRCM over the years 1998– 2008 based on the population of 2 362 502 live births. We analyzed 11 administrative regions of Poland with complete epidemiologic data. Results: Of 11 regions, 2 had a significantly higher standardized prevalence of isolated gastroschisis: Dolnośląskie (1.7/10 000 live births, p = 0.0052 and Śląskie (1.9/10 000 live births, p < 0.0001. Furthermore, within the region of Dolnośląskie, we defined a clear prevalence of the isolated gastroschisis cluster (p = 0.023. We comprehensively examined demographic and socio-economic risk factors for abdominal wall defects in this area, and we found that these factors failed to account for the cluster. Conclusions: We identified a distinct prevalence cluster for isolated gastroschisis, although a precise reason for the disease clustering in this region remains unknown. Cluster identification enables more focused research aimed at identification of specific factors with teratogenic effects.
Dallaqua, Bruna; Saito, Felipe Hiroshi; Rodrigues, Tiago; Calderon, Iracema Mattos Paranhos; Rudge, Marilza Vieira Cunha; Volpato, Gustavo Tadeu; Damasceno, Débora Cristina
Azadirachta indica A. Juss, popularly known as neem, presents medicinal and insecticide properties. However, the repercussions of the neem maternal treatment on fetal development should be investigated. Thus, the aim of this study was to evaluated the effects of Azadirachta indica (neem) on the frequency of congenital malformations in fetuses from rats. Pregnant rats were randomly distributed into three experimental groups: NT=non-treated; TOil=treated with neem seed oil (1.2 mL/day); TAP=treated with active principle of Azadirachta indica (azadirachtin-1.0 mg/mL/day). The neem oil (1.2 mL/day) or azadirachtin (1.0 mg/mL/day) treatments were orally administered throughout pregnancy. Blood samples were collected on days 0, 7, 14 and 20 of pregnancy. Oral glucose test tolerance (OGTT) was performed at day 17 of pregnancy for estimation of total area under the curve (AUC). At term, the fetuses were collected and external and internal (visceral and skeletal) malformations were analyzed. The data showed that the dams treated with neem seed oil and Azadirachtin had no significant change in glucose levels and AUC. It was also verified that neem oil treatment contributed to increase the frequency of malformation/variation, in particular the visceral in their fetuses, while neither significant result was observed in TAP group. In conclusion, neem seed oil treatment administered during pregnancy caused abnormalities in rat fetuses, showing teratogenic effect but the Azadirachtin (active principle) presented no impairment in the fetuses. © 2013 Elsevier Ireland Ltd. All rights reserved.
Kancherla, Vijaya; Druschel, Charlotte M; Oakley, Godfrey P
The lifetime risk of death among individuals with spina bifida is 10-times higher compared with the general population. A population-based analysis on cause-specific mortality among individuals spina bifida is lacking. Using statewide, population-based New York Congenital Malformations Registry, we examined all births between years 1983 and 2006, and identified 1988 births with spina bifida and 10,951 births with congenital hypertrophic pyloric stenosis (CHPS). We linked registry records to birth and death files from vital records, and determined age- and cause-specific mortality for isolated and multiple spina bifida, and compared the findings with the less fatal CHPS. Mortality in spina bifida is significantly high compared with CHPS (16.9% vs. 0.96%, respectively). The probability of survival in spina bifida was lower compared with CHPS. A majority of the deaths in spina bifida occurred in infants within the first year of birth; however, an increased risk of death persisted in young adulthood for both isolated and multiple cases of spina bifida. The common causes of death in children with spina bifida were hydrocephalus, infections, cardiac anomalies, pneumonia, and pulmonary embolism; while infections, heart or kidney failure, injuries and neoplasms contributed to deaths in adults. We conclude that mortality in spina bifida is a large concern, and individuals living with the defect require improved clinical care for lethal medical complications. Primary prevention of spina bifida through mandatory folic acid fortification remains as the best strategy to reduce both disability and mortality associated with this defect across the world. © 2014 Wiley Periodicals, Inc.
Sabri, Mohammad Reza; Daryoushi, Hooman; Gharipour, Mojgan
Repairing cyanotic congenital heart disease may be associated with preserving endothelial function. The present study aimed to evaluate vascular endothelial function in patients with repaired cyanotic congenital heart disease. In a case-control study conducted in 2012 in Isfahan, Iran, 42 consecutive patients aged types of cyanotic congenital heart disease and had undergone complete repair of their congenital heart defect were assessed in regard to their endothelial function state by measuring flow-mediated dilatation and other cardiac function indices. They were paired with 42 sex- and age-matched healthy controls. The mean flow-mediated dilatation was lower in patients with repaired cyanotic congenital heart disease than in the controls [6.14±2.78 versus 8.16±1.49 respectively (pcongenital heart disease that was repaired after 2.5 years of age (mean age at repair 9±6.1 years). Early repair of a cyanotic defect can result in the protection of vascular endothelial function and prevent the occurrence of vascular accidents at an older age.
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 ...
Background: Some children with congenital heart diseases (CHD) may have increased pulmonary blood flow that causes recurrent bronchopneumonia and congestive heart failure. Serum zinc is reduced in children with pneumonia and patients on diuretics. Objective: To evaluate the serum zinc level of children with CHD ...
Sep 3, 2013 ... Keyword: pneumonia, congenital heart disease, congestive heart failure. African Health Sciences 2013; 13(3): 607 - 612 ... study of acute respiratory infections among children in Northern Nigeria, the rate of pneumonia .... stenosis involved valvular and supravalvular membrane. Of the 14 patients with CHD, ...
Rietveld, Simon; Karsdorp, Petra A.; Mulder, Barbara J. M.
This study tested the hypothesis that patients with a congenital heart disease are sensitive regarding heartbeat perception, reflected in enhanced attention for heartbeat, estimation of own heart rate, and a vulnerability to become anxious by listening to heartbeat sounds. Twenty adults with a
Background Congenital Heart Disease (CHD) is a significant cause of morbidity and mortality amongst infants and children globally. Complex heart lesions are more costly to manage than simple lesions. Geographical differences in the spectrum of CHD have been reported; knowledge of the spectrum of CHD provides a ...
Full Text Available Fabricio González-Andrade1, Ramiro López-Pulles21Department of Medicine, Metropolitan Hospital, Quito, Ecuador; 2Science and Technology Process of the Ministry of Public Health, Biomedical Center of the Central University and Regional Autonomic University of the Audes, Quito, Ecuador Universidad Central del Ecuador, Quito, EcuadorAim: This study sets out (a to estimate the prevalence of admissions by birth defects, using the official database of hospitals of Ecuador; and (b to set the basis for a new National Register of Birth Defects in Ecuador that works as a program for the clinical and epidemiological investigation of risk factors in the etiology of congenital anomalies in Ecuadorian hospitals, using a case-control methodological approach. This is the first report in their class.Methods: The data used in this study are derived from the National Register of Hospital Admission/Discharges of the Instituto Nacional de Estadísticas y Censos; data of the Ministry of Public Health were also used. Ecuador does not have an official Medical Birth Registry or a Congenital Malformations Registry.Results: A total of 51,375 discharges by congenital malformations were registered in a 7-year period. Of these, 16,679 admissions were of children aged less than 1 year of age, with a birth prevalence rate (BPR of 72.33/10,000 births. 77% of the congenital defects registered comprise the 50 most common birth defects observed in this age group. Cleft lip was the most prevalent birth defect in children less than 1 year of age and the second most common defect in children 1 to 5 years of age. Unilateral cleft lip shows a BPR of 4.57/10,000 births; cardiac birth defects as a group have a BPR of 4.2; hydrocephalus a BPR of 3.77; and Down’s syndrome a BPR of 3.70. Undescended testicle was the most prevalent birth defect in children between 1 to 5 years. 9384 children under 1 year of age were male (55.9% and 7053 were female (42.1%. BPR in males was 40.45 and in
Eriksen, Nina Bonne; Damm, Peter; Mathiesen, Elisabeth R.
Aims/hypothesis: We assessed the association between congenital malformations and maternal hyperglycemia in pregnant women with pregestational (type 1 or type 2) diabetes and investigated if the rate of congenital malformations was similar in women with near-normal glycemic control compared...... to the background population. We also assessed the association between congenital malformations and maternal hyperglycemia in pregnant women with pregestational diabetes with special focus on women with near-normal HbA1c in early pregnancy. Materials and methods: This is a literature review based on an electronic...... literature search of the databases PubMed, Cochrane, Embase and Web of Science conducted in July 2017 using the search terms diabetes, pregnancy, HbA1c or glycemic control and congenital anomaly or congenital anomaly. We included original papers in English published after 1997 with data on congenital...
Gutierrez-Quintana, Rodrigo; Guevar, Julien; Stalin, Catherine; Faller, Kiterie; Yeamans, Carmen; Penderis, Jacques
Congenital vertebral malformations are common in brachycephalic "screw-tailed" dog breeds such as French bulldogs, English bulldogs, Boston terriers, and pugs. The aim of this retrospective study was to determine whether a radiographic classification scheme developed for use in humans would be feasible for use in these dog breeds. Inclusion criteria were hospital admission between September 2009 and April 2013, neurologic examination findings available, diagnostic quality lateral and ventro-dorsal digital radiographs of the thoracic vertebral column, and at least one congenital vertebral malformation. Radiographs were retrieved and interpreted by two observers who were unaware of neurologic status. Vertebral malformations were classified based on a classification scheme modified from a previous human study and a consensus of both observers. Twenty-eight dogs met inclusion criteria (12 with neurologic deficits, 16 with no neurologic deficits). Congenital vertebral malformations affected 85/362 (23.5%) of thoracic vertebrae. Vertebral body formation defects were the most common (butterfly vertebrae 6.6%, ventral wedge-shaped vertebrae 5.5%, dorsal hemivertebrae 0.8%, and dorso-lateral hemivertebrae 0.5%). No lateral hemivertebrae or lateral wedge-shaped vertebrae were identified. The T7 vertebra was the most commonly affected (11/28 dogs), followed by T8 (8/28 dogs) and T12 (8/28 dogs). The number and type of vertebral malformations differed between groups (P = 0.01). Based on MRI, dorsal, and dorso-lateral hemivertebrae were the cause of spinal cord compression in 5/12 (41.6%) of dogs with neurologic deficits. Findings indicated that a modified human radiographic classification system of vertebral malformations is feasible for use in future studies of brachycephalic "screw-tailed" dogs. © 2014 American College of Veterinary Radiology.
Materna-Kiryluk, Anna; Jamsheer, Aleksander; Wisniewska, Katarzyna; Wieckowska, Barbara; Limon, Janusz; Borszewska-Kornacka, Maria; Sawulicka-Oleszczuk, Henryka; Szwalkiewicz-Warowicka, Ewa; Latos-Bielenska, Anna
Polydactyly represents a heterogeneous group of congenital hand and foot anomalies with variable clinical features and diverse etiology. Preaxial polydactyly type I (PPD1) is the most frequent form of preaxial polydactyly. The etiology of sporadic PPD1 remains largely unknown and the relative contribution of genetic and environmental factors is not clearly defined. The primary goals of this study are twofold: (1) to examine the epidemiology and clinical features of sporadic PPD1 in comparison to a healthy control group, and (2) to contrast the characteristics of sporadic PPD1 with familial forms of isolated polydactyly. Among 2,530,349 live births registered in the Polish Registry of Congenital Malformations (PRCM), we identified 459 children with isolated sporadic PPD1 and 353 children with familial polydactyly, including 57 children with familial PPD1. In comparison with the matched group of 303 controls, sporadic PPD1 cases had significantly lower birth order (P = 0.01) and birthweight (P polydactyly, lower birth order (P = 0.047) and lower birthweight (P < 0.0001) were characteristic of sporadic PPD1 cases. Moreover, our analyses suggested several additional risk factors for sporadic PPD1, including lower paternal education levels (P = 0.01), upper respiratory tract infections during the first trimester of pregnancy (P = 0.049), and maternal history of epilepsy (P = 0.01). In summary, our study provides support to the hypothesis that non-genetic factors play an important role in the etiology of non-familiar PPD1.
Greutmann, Matthias; Tobler, Daniel; Kovacs, Adrienne H; Greutmann-Yantiri, Mehtap; Haile, Sarah R; Held, Leonhard; Ivanov, Joan; Williams, William G; Oechslin, Erwin N; Silversides, Candice K; Colman, Jack M
Progress in management of congenital heart disease has shifted mortality largely to adulthood. However, adult survivors with complex congenital heart disease are not cured and remain at risk of premature death as young adults. Thus, our aim was to describe the evolution and mortality risk of adult patient cohorts with complex congenital heart disease. Among 12,644 adults with congenital heart disease followed at a single center from 1980 to 2009, 176 had Eisenmenger syndrome, 76 had unrepaired cyanotic defects, 221 had atrial switch operations for transposition of the great arteries, 158 had congenitally corrected transposition of the great arteries, 227 had Fontan palliation, and 789 had repaired tetralogy of Fallot. We depict the 30-year evolution of these 6 patient cohorts, analyze survival probabilities in adulthood, and predict future number of deaths through 2029. Since 1980, there has been a steady increase in numbers of patients followed, except in cohorts with Eisenmenger syndrome and unrepaired cyanotic defects. Between 1980 and 2009, 308 patients in the study cohorts (19%) died. At the end of 2009, 85% of survivors were younger than 50 years. Survival estimates for all cohorts were markedly lower than for the general population, with important differences between cohorts. Over the upcoming two decades, we predict a substantial increase in numbers of deaths among young adults with subaortic right ventricles, Fontan palliation, and repaired tetralogy of Fallot. Anticipatory action is needed to prepare clinical services for increasing numbers of young adults at risk of dying from complex congenital heart disease. © 2014 The Authors. Congenital Heart Disease Published by Wiley Periodicals, Inc.
Conclusions: Patients with OC are at increased risk of congenital malformations and syndromes. Routine screening for congenital heart anomalies should be considered and genetic counseling might be warranted in familial cases.
Shieh, Joseph T C; Bittles, Alan H; Hudgins, Louanne
Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is less clear, particularly since the disease pathophysiology may involve genetic and environmental/epigenetic factors. In this study, we ask whether consanguinity affects one of the most common birth defects, congenital heart disease, and identify areas for further research into these birth defects, since consanguinity may now impact health on a near-global basis. A systematic review of consanguinity in congenital heart disease was performed, focusing on non-syndromic disease, with the methodologies and results from studies of different ethnic populations compared. The risks for congenital heart disease have been assessed and summarized collectively and by individual lesion. The majority of studies support the view that consanguinity increases the prevalence of congenital heart disease, however, the study designs differed dramatically. Only a few (n = 3) population-based studies that controlled for potential sociodemographic confounding were identified, and data on individual cardiac lesions were limited by case numbers. Overall the results suggest that the risk for congenital heart disease is increased in consanguineous unions in the studied populations, principally at first-cousin level and closer, a factor that should be considered in empiric risk estimates in genetic counseling. However, for more precise risk estimates a better understanding of the underlying disease factors is needed. Copyright © 2012 Wiley Periodicals, Inc.
Freire, Grace; Miller, Michelle S
Among populations of patients with the congenital heart disease, there is considerable diversity in the anatomy of the coronary arteries. Understanding these anatomical differences is vitally important in directing interventions and surgical repair. In this report, the authors describe the echocardiographic evaluation of the variants of coronary artery anatomy in the following lesions: transposition of the great arteries, congenitally corrected transposition of the great arteries, double-inlet left ventricle, common arterial trunk, tetralogy of Fallot, and double-outlet right ventricle.
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 harmoniza...
Full Text Available PURPOSE: Reporting a case of Peters’ type II with congenital heart defect a rare form of anterior segment dysgenesis in which abnormal cleavage of the anterior chamber occurs. It is characterized by central corneal opacification secondary to defects in a posterior corneal stroma, Descemet's membrane, and endothelium. Majority of cases are sporadic, bilateral , and associated with other systemic malformations. MATERIAL AND METHOD: A18 year old female presented with a history of bilateral cloudy corneas and diminution of vision since early child hood. Visual acuity was RE 6/60, LE 6/60 with PH improvement in B E 6/36 . Slit lamp examination showed BE micro cornea with central and paracentral macular grade opacity with lenticulo - irido - corneal adhesions. Iris was found to be fused with the posterior s urface of the peripheral cornea with poor formation of the anterior chamber with coloboma of iris. Lens was cataractous. Fundus examination in the left eye showed no abnormality. She was diagnosed as Peters’ type II anomaly. Systemic examination revealed congenital heart defects. Echocardiography showed congenital bicuspid aortic valve, grade 3 aortic regurgitation. RESULT: Patient require penetrating keratoplasty with combined procedure ( C ataract extraction with trabeculectomy. CONCLUSION: Early detectio n of the disease will help in early treatment, with good vision development to combat amblyopia.
Hunt, R; Hoffman, C M; Emani, S; Trenor, C C; Emani, S M; Faraoni, D; Kimchi-Sarfaty, C; Ibla, J C
Essentials Perioperative thrombosis is a major cause of morbidity and mortality in congenital heart disease. Neonates and infants undergoing repair of congenital heart lesions were prospectively followed. Elevated von Willebrand factor (VWF) to ADAMTS-13 activity ratios typified the postoperative period. Thrombosis was associated with preoperative VWF activity and cryoprecipitate transfusion SUMMARY: Background The surgical repair of congenital heart malformations is frequently complicated by perioperative thrombosis of unclear etiology. An imbalance between von Willebrand factor (VWF) and ADAMTS-13 is an emerging variable in thrombosis. Objectives To describe perioperative changes to VWF, ADAMTS-13 and NETosis, and evaluate clinical and biochemical associations with postoperative thrombosis. Methods Neonates and infants undergoing palliation or definitive surgical repair of congenital heart malformations were recruited (n = 133). Preoperative and postoperative plasma levels of VWF, ADAMTS-13 and markers of NETosis were determined. Patients were followed for up to 30 days for the occurrence of thrombosis. Univariate and multivariate logistic regression analyses were conducted to identify variables associated with thrombosis. Results We identified significant postoperative increases in VWF activity, VWF level, DNA-histone complexes and cell-free DNA with an overall decrease in ADAMTS-13 activity. Patients experiencing postoperative thrombotic events (9%) were characterized by surgery performed at a lower intraoperative temperature, higher preoperative lactic acid levels, and higher preoperative VWF activity and level. A multivariate logistic regression model identified preoperative VWF activity (odds ratio (OR) 8.39 per IU mL-1 , 95% confidence interval [CI] 1.73-40.55) and transfusion of cryoprecipitate (OR 1.10 per mL kg-1 , 95% CI 1.03-1.17) as being associated with thrombosis. Conclusions Pediatric patients undergoing surgical repair of congenital
Oyama, M A; Sisson, D D
Evaluation of canine congenital heart disease presents a diagnostic challenge to many ultrasonographers. To assist clinicians attempting to examine these patients, an echocardiographic algorithm containing the six most common canine congenital heart diseases (i.e., patent ductus arteriosus, subaortic stenosis, pulmonic stenosis, ventricular septal defect, tricuspid dysplasia, and tetralogy of Fallot) is presented. The algorithm focuses on the underlying disease pathogenesis and the resultant changes in cardiac structure and function that can be readily identified during echocardiographic examination. Use of this algorithm provides a framework from which the ultrasonographer gains both experience and confidence in diagnosing congenital heart disease via echocardiography. This algorithm is supported by a number of still figures within the article as well as real-time echocardiographic images available for viewing at AAHA's website, www.aahanet.org.
Full Text Available INTRODUCTION : It is well documented that, healthy person can tolerate the cabin environment of a commercial airline which is pressurized to the level of 5000 ft. however this environment brings profound physiological changes in patients with cardiovascular dise a se. With rise in number of patients travelling internationally for treatment of cardiac problems especially infants travelling by air for congenital heart disease treatment has increased in the recent time and is evident by the reports of medical incidents involving infants with congenital heart disease onboard . (1 Though the IATA medical manual mentions that adult patients with Esenminger Syndrome should not undertake air travel . (2 This article examines the case for infants with congenital heart diseases as there have been no previous studies reported
Guleserian, Kristine J
The number of adults with congenital heart disease (CHD) has steadily increased as medical and surgical treatment of congenital heart lesions--whether simple or complex--continues to improve. Over the past half century advances in surgical technique have continued with the evolution of traditional surgical repair and introduction of new surgical procedures for complex lesions previously considered to be irreparable. This article describes the rich history of surgical repair, important surgical considerations specific to the adult undergoing primary or reoperative cardiac repair or palliation, the most common types congenital heart lesions and associated cardiac procedures (including cardiac transplantation) performed in the adult population, as well as considerations regarding the optimal surgical environment and current surgical training and education. Copyright © 2011 Elsevier Inc. All rights reserved.
D. V. Dmitrenko
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.
[Central nervous system malformations in a Clinical Hospital of Universidad de Chile and in Chilean maternity hospitals that participated in the Latin American Collaborative Study of Congenital Malformations (ECLAMC)].
Nazer, J; Cifuentes, L; Rodríguez, M; Rojas, M
In Chile, the rates of central nervous system congenital malformations at birth remain high, when compared with the rest of the world. To report the rates of central nervous system congenital malformations in Chilean hospitals. Using the ECLAMC protocol, every malformed newborn or stillbirth, weighing more than 500 g at birth is registered using a standard protocol, and the next non malformed child of the same sex born in the same hospital is assigned as control. The rates of central nervous system congenital malformations are higher at the University of Chile Clinical Hospital than in the rest of Chilean hospitals or Latin American Hospitals. There are significantly higher rates of anencephalia in Concepcion and spina bifida in Valdivia, Rancagua and Concepcion. In the University of Chile Clinical Hospital, global annual rates have a negative slope of -0.0259 per 1000 born alive, with a correlation coefficient of -0.125 (p < 0.05). The slope is positive among children born alive, with an annual rate increase of 0.071. Among stillbirths, the slope is -0.47 per 1000 born alive. Sixty two percent of malformed children were female. Among children with neural tube defects, 30% had a malformed relative and, of these, 66% had the same malformation. Family clustering of neural tube defects, supports the influence of a genetic factor influencing their appearance.
Full Text Available The aim – to analyze clinical and demographic indicators in adolescents and adults with congenital heart disease (CHD to provide strategy of cardiac care for these patients, to assess risk of cardiological and cardiac surgery interventions in patients with congenital heart malformations. Materials and methods. 2569 consecutive patients, aged 16–88 years, mean age 24.14 ± 0.20 years, were selected in electronic database from April 01, 2011 to December 31, 2015. The majority (92.57 % of the included patients (n = 2378 were younger than 40 years. Results. Among all CHD patients, a significant majority had septal defects (39 % and left heart lesions (24 %, followed by congenital lesions of thoracic arteries and veins (16 % and right heart lesions (10 %. The annual number of the examined patients with CHD progressively increased (from 210 in 2011 to 656 in 2015. The number of patients aged 18 years or older mostly increased. The number of patients older than 40 years increased from nine patients in 2011 to 75 adults in 2015. Patients after cardiac surgery and percutaneous transcatheter interventions dominated (n=1553, 60.45 %, compared to the patients without any interventions for CHD (n = 1016, 39.55 %. Only one intervention for CHD was performed in the majority of these patients (n = 1255, 80.81 %, 12.94 % needed two interventions, 3.99 % – three, 2.26 % – three or more interventions. Conclusions. Among patients with congenital heart disease, patients younger than 40 years old were prevalent (92.57 %, with no significant gender differences. Septal defects (ASD, VSD, left heart lesions (congenital aortic valve stenosis and insufficiency, congenital lesions of thoracic arteries and veins (patent ductus arteriosus and aorta coarctation were registered most often in adolescents and adults.
Thomas, Mark; Salpietro, Vincenzo; Canham, Natalie; Ruggieri, Martino; Phadke, Rahul; Kinali, Maria
Mitochondrial DNA depletion syndromes are an important cause of mitochondrial cytopathies in both children and adults. We describe a newborn with multiple congenital malformations including a right aberrant subclavian artery and a trachea-oesophageal fistula in whom mitochondrial depletion syndrome was unmasked by perioperative muscle relaxation. After vecuronium infusion, the infant developed an irreversible postoperative paralysis, leading to death 32 days after surgery. The present case highlights (a) the clinical heterogeneity of mitochondrial depletion syndrome; (b) the importance of rigorous antemortem and postmortem investigations when the cause of a severe myopathy is uncertain; (c) the possible coexistence of mitochondrial depletion syndrome and congenital malformations as a result of a likely abnormal antenatal embryofetal development and (d) the importance of a careful anaesthetic management of children with mitochondrial depletion syndrome, which could be prone to complications related to the possible depressive effects on mitochondrial electron transport chain mediated by some anaesthetic agents. © The Author(s) 2014.
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)
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.)
Griffin, Helen R; Hall, Darroch H; Topf, Ana; Eden, James; Stuart, A Graham; Parsons, Jonathan; Peart, Ian; Deanfield, John E; O'Sullivan, John; Babu-Narayan, Sonya V; Gatzoulis, Michael A; Bu'lock, Frances A; Bhattacharya, Shoumo; Bentham, Jamie; Farrall, Martin; Granados Riveron, Javier; Brook, J David; Burn, John; Cordell, Heather J; Goodship, Judith A; Keavney, Bernard
Several previous studies have investigated the role of common promoter variants in the vascular endothelial growth factor (VEGF) gene in causing congenital cardiovascular malformation (CVM). However, results have been discrepant between studies and no study to date has comprehensively characterised variation throughout the gene. We genotyped 771 CVM cases, of whom 595 had the outflow tract malformation Tetralogy of Fallot (TOF), and carried out TDT and case-control analyses using haplotype-tagging SNPs in VEGF. We carried out a meta-analysis of previous case-control or family-based studies that had typed VEGF promoter SNPs, which included an additional 570 CVM cases. To identify rare variants potentially causative of CVM, we carried out mutation screening in all VEGF exons and splice sites in 93 TOF cases. There was no significant effect of any VEGF haplotype-tagging SNP on the risk of CVM in our analyses of 771 probands. When the results of this and all previous studies were combined, there was no significant effect of the VEGF promoter SNPs rs699947 (OR 1.05 [95% CI 0.95-1.17]); rs1570360 (OR 1.17 [95% CI 0.99-1.26]); and rs2010963 (OR 1.04 [95% CI 0.93-1.16]) on the risk of CVM in 1341 cases. Mutation screening of 93 TOF cases revealed no VEGF coding sequence variants and no changes at splice consensus sequences. Genetic variation in VEGF appears to play a small role, if any, in outflow tract CVM susceptibility.
Helen R Griffin
Full Text Available Several previous studies have investigated the role of common promoter variants in the vascular endothelial growth factor (VEGF gene in causing congenital cardiovascular malformation (CVM. However, results have been discrepant between studies and no study to date has comprehensively characterised variation throughout the gene. We genotyped 771 CVM cases, of whom 595 had the outflow tract malformation Tetralogy of Fallot (TOF, and carried out TDT and case-control analyses using haplotype-tagging SNPs in VEGF. We carried out a meta-analysis of previous case-control or family-based studies that had typed VEGF promoter SNPs, which included an additional 570 CVM cases. To identify rare variants potentially causative of CVM, we carried out mutation screening in all VEGF exons and splice sites in 93 TOF cases. There was no significant effect of any VEGF haplotype-tagging SNP on the risk of CVM in our analyses of 771 probands. When the results of this and all previous studies were combined, there was no significant effect of the VEGF promoter SNPs rs699947 (OR 1.05 [95% CI 0.95-1.17]; rs1570360 (OR 1.17 [95% CI 0.99-1.26]; and rs2010963 (OR 1.04 [95% CI 0.93-1.16] on the risk of CVM in 1341 cases. Mutation screening of 93 TOF cases revealed no VEGF coding sequence variants and no changes at splice consensus sequences. Genetic variation in VEGF appears to play a small role, if any, in outflow tract CVM susceptibility.
Brenner, M; Côté, S M; Boivin, M; Tremblay, R E
We aim to explore the association of a severe congenital malformation (SCM) with postnatal family functioning and parents' separation/divorce and to examine if this association might be moderated by birth order of the child and parental level of education. SCM refers to malformations that, without medical intervention, cause handicap or death. Using the Quebec Longitudinal Study of Child Development, an ongoing population-based birth cohort study initiated in 1998, we compared 1675 families of children with and without a SCM to identify if having a child with a SCM was associated with maternal perception of family functioning. We examined if an SCM was associated with parents' separation and examined parents' education level and birth order of the children to evaluate whether these factors had any moderating effect on the results. There were no significant differences in family functioning between families with and without a SCM child at 5 and 17 months. At 5 months, family functioning was significantly better (P = 0.03) for families with a SCM firstborn child than for families with a SCM child that is not firstborn. For parental separation, no significant differences were observed at 5 and 29 months and 4 years. No significant moderating effects were observed for birth order and parental education on parental separation. Families of children with a SCM do not appear to be at higher risk of family dysfunction within the first 17 months after birth nor of parental separation within the first 4 years after birth. Family functioning tends to be worst in families where the child with SCM is the second or subsequent child born. © 2015 John Wiley & Sons Ltd.
Parekh, Dhaval R
The nearly one-million estimated adult congenital heart disease (ACHD) patients in the United States now outnumber children with congenital heart disease (CHD). With continued improvement in survival due to surgical and medical management of patients born with CHD, there is an overall shift in the burden of care from childhood to adulthood. Due to this transitioning population, the probability of heart failure continues to increase with age and represents nearly one-quarter of all mortality in ACHD. Despite these sobering figures adult cardiologist and fellows continue to have limited exposure in the care of patients with congenital heart disease. The syndrome of heart failure represents a complex derangement of neurohormones, natriuretic peptides, and cytokines leading to progressive symptoms of exercise intolerance, dyspnea, and fatigue. Congenital heart patients represent a unique challenge in both categorization and protocol management of heart failure (HF). It remains unclear if the current four-stage ACC/AHA guidelines for diagnosis and treatment of HF in adults can serve as a meaningful framework for congenital heart patients. Additionally, widely used conventional HF therapy of beta-blockers and angiotensin converting enzyme inhibitors (ACE-I) have not demonstrated clear survival benefit in this population. Unfortunately, adequately powered and controlled randomized studies are grossly lacking and remain challenging to conduct. Nonetheless, a review of heart failure associated with ACHD is provided.
Mohamed Abdel Megied Abo El-Magd
Full Text Available The aim of the work was to assess the prevalence of cardiac anomalies in primary congenital hypothyroidism (PCH patients. Fifty patients with PCH recruited after diagnosis by ultrasonography or scintigraphy (64% Dysgenesis, 36% Dyshormonogenesis. The prevalence of cardiac anomalies was 18%, with renal anomalies being 8%. There was no significant difference in the longitudinal follow-up of growth and sexual maturation between a hypothyroid with and without anomalies. Statistically significant difference was found with replacement therapy of both groups. Hence, echocardiography should be done to screen this birth defect as soon as possible so as to prevent or delay the possible complications. [Arch Clin Exp Surg 2013; 2(2.000: 85-91
... that are most sensitive to oxygen and nutrient deprivation. Some types of CHD allow blood clots to ... American Heart Association, Inc. All rights reserved. Unauthorized use prohibited. The American Heart Association is a qualified ...
Zhao, Enfa; Zhang, Yafei; Zeng, Xianling; Liu, Baomin
Increasing studies suggest that gestational diabetes mellitus (GDM) and pre-gestational diabetes mellitus (PGDM) may be associated with an increased risk of major congenital malformations (MCM) in the offspring. To determine whether GDM or PGDM is associated with an increased risk of congenital malformations, we performed a meta-analysis of cohort studies. We systematically searched the PubMed, Web of Science and Cochrane Library (from January, 1990 to October, 2014) and reviewed the reference lists of included papers to search for additional studies. Meta-analysis tools were used to summarize results. Summary relative risks (RRs) with 95% confidence intervals (CIs) were calculated with random-effects models or fixed-effects models. Study quality was assessed using the Newcastle-Ottawa scale. A total of 21 cohort studies were included in the meta-analysis. Analysis of all studies showed that both PGDM and GDM were associated with an increased risk of MCM (RR=2.44, 95% CI=1.92-3.10, I2=78.3%, p=0.342; RR=1.11, 95% CI=1.11-1.27, I2=9.9%, pcohort studies are needed to test the effect of PGDM and GDM on specific congenital malformations risk.
Ortinau, Cynthia M; Anadkat, Jagruti S; Smyser, Christopher D; Eghtesady, Pirooz
Determine the prevalence of intraventricular hemorrhage in infants with moderate to severe congenital heart disease, investigate the impact of gestational age, cardiac diagnosis, and cardiac intervention on intraventricular hemorrhage, and compare intraventricular hemorrhage rates in preterm infants with and without congenital heart disease. A single-center retrospective review. A tertiary care children's hospital. All infants admitted to St. Louis Children's Hospital from 2007 to 2012 with moderate to severe congenital heart disease requiring cardiac intervention in the first 90 days of life and all preterm infants without congenital heart disease or congenital anomalies/known genetic diagnoses admitted during the same time period. None. Cranial ultrasound data were reviewed for presence/severity of intraventricular hemorrhage. Head CT and brain MRI data were also reviewed in the congenital heart disease infants. Univariate analyses were undertaken to determine associations with intraventricular hemorrhage, and a final multivariate logistic regression model was performed. There were 339 infants with congenital heart disease who met inclusion criteria and 25.4% were born preterm. Intraventricular hemorrhage was identified on cranial ultrasound in 13.3% of infants, with the majority of intraventricular hemorrhage being low-grade (grade I/II). The incidence increased as gestational age decreased such that intraventricular hemorrhage was present in 8.7% of term infants, 19.2% of late preterm infants, 26.3% of moderately preterm infants, and 53.3% of very preterm infants. There was no difference in intraventricular hemorrhage rates between cardiac diagnoses. Additionally, the rate of intraventricular hemorrhage did not increase after cardiac intervention, with only three infants demonstrating new/worsening high-grade (grade III/IV) intraventricular hemorrhage after surgery. In a multivariate model, only gestational age at birth and African-American race were predictors
Kunisaki, Shaun M; Powelson, Ian A; Haydar, Bishr; Bowshier, Brian C; Jarboe, Marcus D; Mychaliska, George B; Geiger, James D; Hirschl, Ronald B
Although thoracoscopic lobectomy is a widely accepted surgical procedure in adult thoracic surgery, its role in small children remains controversial. The purpose of this study was to evaluate perioperative outcomes after thoracoscopic and open lobectomy in infants and young children with congenital lung malformations at a single academic referral center. A cohort study of 62 consecutive children who underwent elective pulmonary lobectomy for a congenital lung lesion between 2001 and 2013 was performed. Patient demographics and perioperative outcomes were evaluated in univariate and logistic regression analyses. Forty-nine patients underwent thoracoscopy and 13 had a thoracotomy. Six children undergoing thoracoscopy required conversion to thoracotomy (conversion 12.2%). Perioperative outcomes, including median blood loss (2.0 vs 1.1 mL/kg; p = 0.34), chest tube duration (3 vs 3 days; p = 0.33), hospital length of stay (3 vs 3 days; p = 0.42), and morbidity as defined by the Accordion Grading Scale (30.6% vs 30.8%; p = 0.73), were similar between thoracoscopy and thoracotomy, respectively. Although thoracoscopy was associated with increased operative duration compared with thoracotomy (239.9 vs 181.2 minutes, respectively; p = 0.03), thoracoscopy operative times decreased with increasing institutional experience (p = 0.048). Thoracoscopic lobectomy infants younger than 5 months of age had a 2.5-fold higher rate of perioperative adverse outcomes compared with older children (p = 0.048). In small children undergoing pulmonary lobectomy, both thoracoscopy and thoracotomy are associated with similar perioperative outcomes. The cosmetic and musculoskeletal benefits of the thoracoscopic approach must be balanced against institutional expertise and a potentially higher risk for complications in younger patients. Copyright © 2014 American College of Surgeons. Published by Elsevier Inc. All rights reserved.
Adrian Hruşcă; Simona Căinap; Andreea L. Răchişan; Tudor L. Pop; Manuel Chira; Simona Opriţa; Nicolae Miu; Mariana Andreica
Objective: Cardiovascular malformations are a common cause of neonatal and infant death. We undertook this study to determine the prevalence and spectrum of cardiovascular malformations in a pediatric population, the prevalence of other associated anomalies and genetic syndromes among infants with cardiovascular malformations. Material and Methods: We based the study on a pediatric population admitted at the 2nd Clinic of Pediatrics, for a period of 5 years, diagnosed with a congenit...
The number of adults with congenital heart disease is increasing due to the great achievements in the field of paediatric cardiology, congenital heart surgery and intensive care medicine over the last decades. Mortality has shifted away from the infant and childhood period towards adulthood. As congenital heart disease patients get older, a high prevalence of cardiovascular risk factors is encountered similar to the general population. Consequently, the contribution of acquired morbidities, especially acquired heart conditions to patient outcome, is becoming increasingly important. Therefore, to continue the success story of the last decades in the treatment of congenital heart disease and to further improve the outcome of these patients, more attention has to be given to the prevention, detection and adequate therapy of acquired heart conditions. The aim of this review is to give an overview about acquired heart conditions that may be encountered in adults 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://group.bmj.com/group/rights-licensing/permissions.
Yalçın, Hüseyin Çağatay
This is the periodic report for the HEMODYNAMICS IN CHD project, which received funding under the Seventh Framework Programme (FP7). The project will be applying the techniques developed in to a well established animal model for a severe CHD, hypoplastic left heart syndrome, to dissect the contribution of blood flow related forces on this disease. The report includes images generated to study embryonic development of congenital heart defects.
Çanaku, Dorina; Toçi, Ervin; Roshi, Enver; Burazeri, Genc
Aim: Congenital Malformations (CMs) represent a challenge especially for developing countries. Data about CMs in Albania are rather scarce. In this context, our aim was to assess the prevalence and factors associated with CMs in Tirana, the capital of Albania. Methods: Information on all CMs at birth during 2011-2013 was retrieved from the National CM Surveillance System. For each CM case, three controls (babies born without CM) were retrieved as well. Overall, 831 cases and 2522 controls were included in this study. The prevalence was calculated using the total number of live births in Tirana during the same period. Binary logistic regression was used to determine the factors associated with CMs adjusting for a number of covariates. Results: The three-year prevalence of CMs was 23.41 per 1,000 live births. The most affected body systems were the musculoskeletal, cardiovascular and genital systems. CMs were more prevalent among male babies. Advanced mothers’ age, lower education, unemployment status and lower gestational age were all positively associated with increased likelihood of CMs. Conclusions: Socio-demographic factors of mothers are linked to CMs in Albania. Future surveys are needed in Albania in order to establish determinants of CMs at a national level. PMID:25126007
Hedberg, Carola; Oldfors, Anders; Darin, Niklas
Congenital muscular dystrophies associated with brain malformations are a group of disorders frequently associated with aberrant glycosylation of α-dystroglycan. They include disease entities such a Walker-Warburg syndrome, muscle-eye-brain disease and various other clinical phenotypes. Different genes involved in glycosylation of α-dystroglycan are associated with these dystroglycanopathies. We describe a 5-year-old girl with psychomotor retardation, ataxia, spasticity, muscle weakness and increased serum creatine kinase levels. Immunhistochemistry of skeletal muscle revealed reduced glycosylated α-dystroglycan. Magnetic resonance imaging of the brain at 3.5 years of age showed increased T2 signal from supratentorial and infratentorial white matter, a hypoplastic pons and subcortical cerebellar cysts. By whole exome sequencing, the patient was identified to be compound heterozygous for a one-base duplication and a missense mutation in the gene B3GALNT2 (β-1,3-N-acetylgalactosaminyltransferase 2; B3GalNAc-T2). This patient showed a milder phenotype than previously described patients with mutations in the B3GALNT2 gene.
Background: Postoperative junctional ectopic tachycardia (JET) is a rare and transient phenomenon occurring after repair of congenital heart defects. Report on this arrhythmia in the subregion is rare. We set out to determine the incidence of this arrhythmia and review the treatment and outcomes of treatment in our centre.
It is thus important to diagnose and intervene early to improve the quality of life. Few studies have been done on Down syndrome patients in Nigeria. Objective: The objective was to find out the incidence and types of congenital heart defects in Down syndrome patients seen in the Paediatric cardiology unit of this tertiary ...
Mulder, B. J. M.
The population of adults with a congenital heart defect (CHD) is increasing, due to improved survival after cardiac surgery. To accommodate the specialised care for these patients, a profound interest in the epidemiology of CHD is required. The exact size of the current population of adults with CHD
Objective: Congenital heart diseases (CHD) frequently occur in children with Down syndrome. A few studies in Nigeria have highlighted the pattern of CHD in such patients, but results are variable with no data from the study area for comparison. This study aims to determine the pattern of CHD among children with Down ...
van Engelen, K.
Congenital heart disease (CHD) is among the most common birth defects, occurring in approximately 8 per 1,000 live births. It leads to significant morbidity and mortality in children as well as adults. Due to improvements in cardiac surgery and medical care, nowadays approximately 90% of CHD
Mulder, B. J. M.
Pulmonary arterial hypertension (PAH) is a serious complication of congenital heart disease (CHD). Without early surgical repair, around one-third of paediatric CHD patients develop significant PAH. Recent data from the Netherlands suggest that >4% of adult CHD patients have PAH, with higher rates
Background: Pneumonia is a common cause of childhood morbidity and mortality globally. Some congenital heart disease(CHD) may predispose their sufferer to bronchopneumonia. Objective: To evaluate the contribution of CHD to pneumonia in children seen in a tertiary hospital. Methods: Over a year, consecutive ...
Background: The pattern of congenital heart diseases (CHD) varies from region to region even in the same country. Echocardiography has been available in Aminu Kano Teaching Hospital for about 10 years now but problems then were non.available of appropriate probes for children making it difficult to make some ...
Method: We searched PubMed database, Google scholar, TRIP database, World Health Organisation libraries and reference lists of selected articles for studies on patterns of congenital heart disease among children in Nigeria between 1964 and 2015. Two researchers reviewed the papers independently and extracted the ...
Verheugt, Carianne L.; Uiterwaal, Cuno S. P. M.; Vaartjes, Ilonca; van der Velde, Enno T.; Zomer, A. C.; Meijboom, Folkert J.; Pieper, Petronella G.; Post, Marco C.; Vliegen, Hubert W.; Hazekamp, Mark G.; Grobbee, Diederick E.; Mulder, Barbara J. M.
Background: Young patients with congenital heart disease reaching adulthood face mandatory transition to adult cardiology. Their new cardiologist needs to assess the chances of major future events such as surgery. Using a large national registry, we assessed if patient characteristics at the age of
Verheugt, Carianne L.; Uiterwaal, Cuno S.P.M.|info:eu-repo/dai/nl/136603947; Vaartjes, Ilonca|info:eu-repo/dai/nl/304812102; Van Der Velde, Enno T.; Zomer, A. C.|info:eu-repo/dai/nl/142296120; Meijboom, Folkert J.|info:eu-repo/dai/nl/136537367; Pieper, Petronella G; Post, Marco C.; Vliegen, Hubert W; Hazekamp, Mark G.; Grobbee, Diederick E.|info:eu-repo/dai/nl/071889256; Mulder, Barbara J M
Background Young patients with congenital heart disease reaching adulthood face mandatory transition to adult cardiology. Their new cardiologist needs to assess the chances of major future events such as surgery. Using a large national registry, we assessed if patient characteristics at the age of
Verheugt, Carianne L.; Uiterwaal, Cuno Spm; Vaartjes, Ilonca; van der Velde, Enno T.; Zomer, A. C.; Meijboom, Folkert J.; Pieper, Petronella G.; Post, Marco C.; Vliegen, Hubert W.; Hazekamp, Mark G.; Grobbee, Diederick E.; Mulder, Barbara Jm
Background: Young patients with congenital heart disease reaching adulthood face mandatory transition to adult cardiology. Their new cardiologist needs to assess the chances of major future events such as surgery. Using a large national registry, we assessed if patient characteristics at the age of
clinic and had echocardiography diagnosis of congenital heart diseases. Results: Of the 41 cases of DS seen during the study period, 32 (78.0%) children aged 2 weeks to 22 months (Mean +SD = 5.6 ± 4.0 months) were diagnosed with CHD. Male to female ratio was 2.2:1. Atrioventricular septal defect (AVSD) was the ...
Sluman, M. A.; de Man, S.; Mulder, B. J. M.; Sluiter, J. K.
Background Despite improved survival of adults with congenital heart disease (CHD), higher rates of unemployment and work-related problems are seen, especially among younger adults. This study was performed to gain insight into current barriers and facilitating experiences at work among young adult
The study addresses parental coping patterns of children with congenital heart disease in the state of Hawaii. Attention was given to geography and ethnicity as well as parental and child characteristics as factors impacting on the coping pattern. Telephone interviews with parents (N=32) obtained data concerning parent characteristics, their…
Driessen, Mieke M P; Breur, Johannes M. P. J.; Budde, Ricardo P J; van Oorschot, Joep W M; van Kimmenade, Roland R J; Sieswerda, Gertjan Tj.; Meijboom, Folkert J; Leiner, Tim
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
Driessen, M.M.; Breur, J.M.; Budde, R.P.; Oorschot, J.W. van; Kimmenade, R.R. van; Sieswerda, G.T.; Meijboom, F.J.; Leiner, T.
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
Hoffmann, A.; Chockalingam, P.; Balint, O. H.; Dadashev, A.; Dimopoulos, K.; Engel, R.; Schmid, M.; Schwerzmann, M.; Gatzoulis, M. A.; Mulder, B.; Oechslin, E.
To investigate the prevalence and characteristics of cerebrovascular accidents (CVA) in a large population of adults with congenital heart disease (CHD). In a retrospective analysis of aggregated European and Canadian databases a total population of 23 153 patients with CHD was followed up to the
Hoffmann, A.; Chockalingam, P.; Balint, O.H.; Dadashev, A.; Dimopoulos, K.; Engel, R.; Schmid, M.; Schwerzmann, M.; Gatzoulis, M.A.; Mulder, B.J.M.; Oechslin, E.
Objective To investigate the prevalence and characteristics of cerebrovascular accidents (CVA) in a large population of adults with congenital heart disease (CHD). Methods and results In a retrospective analysis of aggregated European and Canadian databases a total population of 23 153 patients with
W. Drenthen (Willem); H. Boersma (Eric); A. Balci (Ali); P. Moons (Philip); J.W. Roos-Hesselink (Jolien); B.J.M. Mulder (Barbara); H.W. Vliegen (Hubert); A.P.J. van Dijk (Arie); A.A. Voors (Adriaan); S-C. Yap (Sing-Chien); D.J. van Veldhuisen (Dirk); P.G. Pieper (Petronella)
textabstractAims:Data regarding pregnancy outcome in women with congenital heart disease (CHD) are limited.Methods and results: In 1802 women with CHD, 1302 completed pregnancies were observed. Independent predictors of cardiac, obstetric, and neonatal complications were calculated using logistic
Kampman, Marlies Aleida Maria
In part I of this thesis we described the incidence of cardiovascular complications, new predictors of cardiovascular complications during and after pregnancy, and we assessed the impact of pregnancy on cardiac function and remodeling in women with congenital heart disease (CHD). We showed that
Background: Congenital abnormalities of the heart and cardiovascular system are reported in almost 1% of live births, and about half of these children need medical or surgical help in infancy. In the first decade, a further 25% require surgery to maintain or improve their life. Only 10% survive to adolescence without treatment ...
Abstract. Objective: Congenital heart diseases (CHD) frequently occur in children with Down syndrome. A few studies in Nigeria have highlighted the pattern of CHD in such patients, but results are variable with no data from the study area for comparison. This study aims to determine the pattern of CHD among children.
Stähli, Barbara E; Gebhard, Catherine; Biaggi, Patric; Klaassen, Sabine; Valsangiacomo Buechel, Emanuela; Attenhofer Jost, Christine H; Jenni, Rolf; Tanner, Felix C; Greutmann, Matthias
Left ventricular non-compaction cardiomyopathy (LVNC) is a rare cardiomyopathy, originally described as an isolated disease without other structural cardiac abnormalities. The aim of this study was to explore the prevalence of LVNC among adults with different types of congenital heart disease. From our databases we identified adults with congenital heart disease who fulfilled diagnostic criteria for LVNC. We report frequencies of associated congenital cardiac defects and the prevalence of LVNC among patients with different congenital heart defects. From a total of 202 patients with LVNC, 24 patients (12%; mean age 32 ± 11 years, 19 males) had additional congenital cardiac defects. Associated defects were left ventricular outflow tract abnormalities in 11 patients (46%), including 7 uni- or bicuspid aortic valves; two aortic coarctations; one diffuse aortic hypoplasia and one subaortic stenosis, Ebstein anomaly in 6 patients (25%), tetralogy of Fallot in two (8%), and double outlet right ventricle in one patient (4%). In our cohort, the prevalence of LVNC was highest among patients with Ebstein anomaly (6/40, 15%), followed by aortic coarctation (2/60, 3%), tetralogy of Fallot (3/129, 2%) and uni- or bicuspid aortic valves (7/963, 1%). In adults, various forms of congenital heart disease are associated with LVNC, particularly stenotic lesions of the left ventricular outflow tract, Ebstein anomaly, and tetralogy of Fallot. In the future, studying these patients in more depth may provide a better understanding of the interplay between genetic and hemodynamic factors that lead to the phenotype of LVNC. Copyright © 2012 Elsevier Ireland Ltd. All rights reserved.
Kim, Yuli Y; He, Wei; MacGillivray, Thomas E; Benavidez, Oscar J
Despite their clinical importance, 30-day readmission after adult congenital heart surgery has been understudied. They sought to determine the frequency of unplanned readmissions after adult congenital heart surgery and to identify any potential associated risk factors. Retrospective cohort study using State Inpatient Databases for Washington, New York, Florida, and California from 2009 to 2011. Federal and nonfederal acute care hospitals. Admissions of patients age 18-49 years with International Classification of Diseases, Ninth Revision, Clinical Modification codes indicating adult congenital heart surgery. Readmission was defined as any nonelective hospitalization for a given patient ≤30 days of discharge from the index congenital heart surgery admission. Of 9863 admissions, there were 8912 patients discharged home, of which 1419 were readmitted (14.2%). Unadjusted mortality rate was 2.6%. Most common indications for readmission were cardiac (pericardial disease, atrial fibrillation, heart failure) and infectious (postoperative infection, endocarditis). On multivariable analysis, female gender (adjusted odds ratio [AOR] 1.1; P = .05), black race (AOR 1.2; P = .05), median income Heart Surgery-1 (RACHS-1) 3 complexity (AOR 1.3; P = .04), and emergent admissions (AOR 1.5 P heart surgery hospitalizations results in unplanned readmission. Female gender, lower income status, black race, government-sponsored insurance, renal failure, unscheduled index admission, and RACHS-1 three surgical procedures are risk factors for subsequent unplanned 30-day readmission. These risk factors may serve as potential quality improvement targets to reduce readmissions. © 2016 Wiley Periodicals, Inc.
Van Puyvelde, Tim; Ameloot, Koen; Roggen, Mieke; Troost, Els; Gewillig, Marc; Budts, Werner; Van De Bruaene, Alexander
Outcome after cardiopulmonary resuscitation (CPR) in patients with underlying congenital heart disease is uncertain. This study aimed at evaluating outcome after CPR in patients with underlying congenital heart disease, factors related to worse outcome after CPR and whether survivors of sudden cardiac death (SCD) have a worse outcome when compared to an age, gender and disease-matched control population. Between 1984 and 2015, all patients with congenital heart disease who received in or out-of-hospital CPR were identified from the database of congenital heart disease from the University Hospitals Leuven. Postoperative and neonatal (heart defect were included in the study. Thirty-eight patients (66% men; median age 25 years (interquartile range 9-40); 68% out-of-hospital) were identified, of which 27 (66%) survived the event. The main cause of SCD was ventricular tachycardia or fibrillation ( n=21). Heart defect complexity (odds ratio (OR) 5.1; 95% confidence interval (CI) 1.2-21.9; P=0.027), pulmonary hypertension (OR 13.8; 95% CI 2.1-89.5; P=0.006) and time to return of spontaneous circulation (OR 1.1; 95% CI 1.0-1.1; P=0.046) were related to worse outcome. Survivors of SCD had a worse prognosis when compared to an age, gender and disease-matched control group (5-year survival 76% vs. 98%; P=0.002). The complexity of underlying heart defect, pulmonary hypertension and time to return of spontaneous circulation are related to worse outcome in the case of CPR. Survivors of SCD have a worse outcome when compared to matched controls, indicating the need for adequate implantable cardioverter defibrillator indication assessment and for stringent follow-up of patients with worsening haemodynamics.
Karsdorp, Petra A.; Kindt, Merel; Rietveld, Simon; Everaerd, Walter; Mulder, Barbara J. M.
Background Little is known about the mechanisms explaining an increased perception of heart symptoms in congenital heart disease (ConHD). In the present study, it was suggested that a combination of high trait anxiety and disease history increases the perception of heart symptoms. Purpose It was
Karsdorp, P.A.; Kindt, M.; Rietveld, S.; Everaerd, W.; Mulder, B.J.M.
Background: Little is known about the mechanisms explaining an increased perception of heart symptoms in congenital heart disease (ConHD). In the present study, it was suggested that a combination of high trait anxiety and disease history increases the perception of heart symptoms. Purpose: It was
... Asha's Story Shandler's story Nicholas' Story Ken's Story William's Story William’s Story I was born with a heart defect, ... we moved to Scotland where I began a Master’s program. Thirteen years after the open-heart surgery, ...
Martínez-Frías, María Luisa; Bermejo, Eva; Rodríguez-Pinilla, Elvira; Prieto, David
Most studies associating different types of malformations with the presence of a single umbilical artery (SUA) are based on small and selected series. Here, we present the results of a study aimed at identifying the most frequent, and the most specific anomalies related to SUA. We analyzed 19,909 consecutive newborn infants with congenital malformations, from the Spanish Collaborative Study of Congenital Malformations (ECEMC). To estimate the specificity of the relationship of different congenital defects with SUA, we calculated their relative frequencies (RF) by dividing their frequency in infants with SUA by the corresponding frequency in newborn infants without SUA. Using the different levels of the ECEMC coding system, we calculated the RFs in three steps: (a) a group of individual congenital defects, (b) different groups of malformed infants, and (c) each individual malformation by its clinical presentation in some of the studied groups of malformed infants. The defects most specifically associated with SUA were bilateral renal agenesis and imperforate anus, followed by unilateral renal agenesis, and vertebral defects, the RF of which indicated that they were between 7.99 and 9.93 times more frequent among malformed infants with SUA than among malformed infants without SUA. However, these defects were not as frequent in the group of infants with SUA, as cardiovascular anomalies. Regarding the association of SUA in the groups of malformed infants, the most specific groups were body stalk defects and sirenomelia. Finally, we analyzed the association of the individual defects by different groups of malformed infants in order to identify if the individual defects are associated with SUA in any type of clinical presentation, and in relation to some groups of infants with genetic disorders. The results, together with the embryonic development of the umbilical cord, strongly suggest that not all cases of SUA have the same cause, and that all previously suggested
Lauridsen, Mette Høj; Petersen, Olav Bjørn; Vestergaard, Else Marie
￼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...... with major and minor CHD.: Pregnant women in Denmark (more than 95%) attend two publicly funded ultrasound scans; around 12 and 20 weeks gestational age (GA). During the first scan fetal bi-parietal-diameter (BPD) is routinely obtained. During the second scan fetal head- circumference (HC) is obtained...... 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...
González Font, Antonio E; Carrete Ramírez, Francisco A; González Fernández, Diana R
We analyze the intra-uterine diagnoses of congenital cardiopathies performed by means of fetal echocardiographies from 1990 to 1995 in Matanzas, Cuba. All patients were examined in search of risk factors and indicators; 39 complex cardiopathies were detected, the most frequent ones were univentricular heart, hypoplasia of the left ventricle, and pulmonary atresia. Significant references were an abnormal image of the four cavities and the associated fetal anomalies; 66% of the malformations were diagnosed before week 24 of gestation. It was observed that the group of patients not diagnosed prenatally had a significant perinatal mortality. Although 32% of the newborns' complex cardiopathies in that period were diagnosed prenatally, it is necessary to improve this result aimed at reducing the morbidity and mortality due to these anomalies, offering the best survival conditions at the time of birth.
Subirana, M Teresa; Oliver, José M; Sáez, José M; Zunzunegui, José L
This article contains a review of some of the most important publications on congenital heart disease and pediatric cardiology that appeared in 2010 and up until September 2011. Of particular interest were studies on demographic changes reported in this patient population and on the need to manage the patients' transition from the pediatric to the adult cardiology department. This transition has given rise to the appearance of new areas of interest: for example, pregnancy in women with congenital heart disease, and the effect of genetic factors on the etiology and transmission of particular anomalies. In addition, this review considers some publications on fetal cardiology from the perspective of early diagnosis and, if possible, treatment. There follows a discussion on new contributions to Eisenmenger's syndrome and arrhythmias, as well as on imaging techniques, interventional catheterization and heart transplantation. Finally, there is an overview of the new version of clinical practice guidelines on the management of adult patients with congenital heart disease and of recently published guidelines on pregnancy in women with heart disease, both produced by the European Society of Cardiology. Copyright © 2012 Sociedad Española de Cardiología. Published by Elsevier Espana. All rights reserved.
Yalonetsky, Sergey; Khoury, Asaad; Schwartz, Yitzhack; Lorber, Avraham
Contemporary catheterization techniques allow effective percutaneous transcatheter treatment of congenital heart defects as an attractive alternative to open heart surgery. This case report describes transcatheter treatment of congenital pulmonary valve stenosis and secundum atrial septal defect which were diagnosed in a 31 year old woman who presented with cyanosis. This illustrates difficulties in the diagnosis of congenital heart disease in adult patients and demonstrates that transcatheter techniques in the treatment of these congenital anomalies are effective.
Sun, Feifei; Chen, Yixin; Ren, Weidong; Zhang, Ying; Wu, Dan; Chen, Xin; Ma, Chunyan; Li, Dongyu
Traditional methods of describing and classifying congenital mitral valve malformations (CMVMs) often lack specificity and scientificity. Thus, documentation is incomplete, especially in terms of ultrasound findings. Data were collected from 436 patients (mean age, 36.6±26.8years; male 47.9%), each subjected to echocardiographic evaluation of CMVM. Valvar characteristics were studied and analyzed via a four-tiered echocardiographic analysis (FTEA) approach: (1) supravalvular region and annulus, (2) valvar leaflets and commissures, (3) chordae tendineae, and (4) papillary muscles. A clinical random ultrasonic reading controlled trial was designed to the compare conventional diagnostic method and FTEA in patients with CMVMs. From a total of 246,507 echocardiograms, CMVMs were methodically investigated in 436 (0.18%) patients. Of these, 16 (3.7%) had multi-level malformations; and in 133 (30.5%), CVCMs were associated with other cardiac defects. Using a FTEA approach, involvement was distributed as follows: (1) supravalvular region and annulus (n=7 [1.6%]; excessive supravalvular tissue, 3; abnormal annulus, 4 [overriding, 1; shifted, 2; bridging/cord-like accessory tissue, 1]); (2) valvar leaflets and commissures (n=421 [96.3%]; lengthy or excessive, 210; underdeveloped, 35; contracture,12; atretic, 3; anomalously connected, 1; loose or billowy, 63; clefts, 57; dual orifice, 5; localized bulging, 6; accessory tissue element, 4; fibrotic, 18; fused leaflet cusps, 3; abnormal commissures, 4 [fused, 1; clefts, 3]); (3) chordae tendineae (n=14 [3.2%]; confined to single papillary muscle, 4; excessive, 2; thickened and fused, 2; shortened, 2; fibrotic, 2; accessory tissue element, 1; straddling, 1); and (4) papillary muscles (n=13 [3.0%]; absent, 2; single, 5; asymmetric, 2; abnormally located, 3; fibrotic, 1). According to the report comparing one by one each section among the inexperienced (groups A and B) and experienced (group C) groups out of 100 patients with CMVMs
van Velzen, C L; Clur, S A; Rijlaarsdam, M E B; Bax, C J; Pajkrt, E; Heymans, M W; Bekker, M N; Hruda, J; de Groot, C J M; Blom, N A; Haak, M C
Congenital heart disease (CHD) is the most common congenital malformation and causes major morbidity and mortality. Prenatal detection improves the neonatal condition before surgery, resulting in less morbidity and mortality. In the Netherlands a national prenatal screening programme was introduced in 2007. This study evaluates the effects of this screening programme. Geographical cohort study. Large referral region of three tertiary care centres. Fetuses and infants diagnosed with severe CHD born between 1 January 2002 and 1 January 2012. Cases were divided into two groups: before and after the introduction of screening. Detection rates were calculated. The prenatal detection rate (n = 1912) increased with 23.9% (95% confidence interval [95% CI] 19.5-28.3) from 35.8 to 59.7% after the introduction of screening and of isolated CHD with 21.4% (95% CI 16.0-26.8) from 22.8 to 44.2%. The highest detection rates were found in the hypoplastic left heart syndrome, other univentricular defects and complex defects with atrial isomerism (>93%). Since the introduction of screening, the 'late' referrals (after 24 weeks of gestation) decreased by 24.3% (95% CI 19.3-29.3). This is the largest cohort study to investigate the prenatal detection rate of severe CHD in an unselected population. A nationally organised screening has resulted in a remarkably high detection rate of CHD (59.7%) compared with earlier literature. © 2015 Royal College of Obstetricians and Gynaecologists.
Jouannic, Jean-Marie; Thieulin, Anne-Claire; Bonnet, Damien; Houyel, Lucile; Lelong, Nathalie; Goffinet, François; Khoshnood, Babak
(1) Assess sensitivity of the measurement of nuchal translucency (NT), for the prenatal screening of congenital heart defect (CHD) on population-based data; (2) examine whether the sensitivity of NT varies for specific types of cardiac defects. Using population-based data of the Paris Registry of Congenital Malformation for 935 fetuses with CHD and without chromosomal anomalies for the period 2001 to 2007, we calculated sensitivity of NT, its positive predictive value and likelihood ratio, for all CHD and for six types of CHD. Sensitivity of NT was 7.1 and 4.2% for the 2.5 and 3.5 mm cut-off values, respectively; when isolated ventricular septal defects were excluded, sensitivity increased to 9.9 and 6.3%. Positive predictive values were 1.1 and 3.2% for 2.5 and 3.5 mm cut-offs, respectively. Of the six defects examined, sensitivity of NT was highest for heterotaxy followed by hypoplastic left heart syndrome and coarctation of aorta. Prevalence of CHD was about fourfold higher for fetuses with NT ≥ 3.5 mm (3.2%) than in the general population. This higher risk is comparable to that of other risk factors commonly used for early referral to specialized echocardiography. Nevertheless, our results, suggest that NT is not a very effective or efficient tool for the prenatal screening of CHD. Copyright © 2011 John Wiley & Sons, Ltd.
Seeger, Achim; Fenchel, Michael C.; Kramer, Ulrich; Bretschneider, Christiane; Doering, Joerg; Claussen, Claus D.; Miller, Stephan [University of Tuebingen (Germany). Department of Diagnostic and Interventional Radiology; Greil, Gerald F. [St. Thomas Hospital, Division of Imaging Sciences, King' s College London (United Kingdom); Martirosian, Petros [University of Tuebingen, Section of Experimental Radiology, Tuebingen (Germany); Sieverding, Ludger [University of Tuebingen, Department of Pediatric Cardiology, Tuebingen (Germany)
Patients with congenital heart disease frequently have complex cardiac and vascular malformations requiring detailed non-invasive diagnostic evaluation including functional parameters. To evaluate the morphological and functional information provided by a novel 3-D cine steady-state free-precession (SSFP) sequence. Twenty consecutive children (mean age 2.2 years, nine boys) were examined using a 1.5-T MR system including 2-D cine gradient-recalled-echo sequences, static 3-D SSFP and 3-D cine SSFP sequences. Measurement of ventricular structures and volumes showed close agreement between the 3-D cine SSFP sequence and the 2-D cine gradient-recalled-echo and static 3-D SSFP sequences (left ventricular volumes mean difference 1.0-1.9 ml and 8.8-11.4%, respectively; right ventricular volumes 1.7-2.1 ml and 9.9-16.9%, respectively). No systematic bias was observed. 3-D cine MRI provides anatomic as well as functional information with sufficient spatial and temporal resolution in free-breathing infants with congenital heart disease. (orig.)
... involved, but of everyone? In the United States, hospital costs for people with a heart defect were about $1.4 billion in one year. Families and the government share the burden of these costs, which means that all taxpayers ...
Karsdorp, Petra A.; Kindt, Merel; Rietveld, Simon; Everaerd, Walter; Mulder, Barbara J. M.
BACKGROUND: The aim of the present study is to clarify whether biased symptom perception towards heart symptoms may explain a reduced quality of life in patients with congenital heart disease (ConHD). The present study tested the hypothesis that the combination of ConHD and high trait anxiety
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
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 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 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 heart disease in clinical practice. Copyright © 2017 Elsevier Inc. All rights reserved.
de León Ojeda, Norma Elena; Soriano-Torres, Michel; Cabrera, Mercedes J.; Benítez Ramos, Dunia Bárbara
We report on a newborn male patient with a terminal deletion in the long arm of the chromosome 4 with a congenital heart defect unreported before in association with this syndrome. The patient had multiple congenital anomalies including a pointed duplicated fingernail, low set posteriorly rotated ears, large anterior fontanel, micrognathia, glabellar capillary vascular malformation, and Interrupted Aortic Arch type C. The patient died due to multiple congenital malformations; a peripheral chr...
Luc Malemo Kalisya
Full Text Available An increase of congenital anomalies in the eastern Democratic Republic of the Congo (DRC has been reported. Congenital malformations (CMs are not uncommon among newborns and, if left untreated, can contribute to increased neonate morbidity and mortality.Medical records of all individuals admitted with a diagnosed CM to HEAL Africa Teaching Hospital (Goma, DRC from 2002 to 2014 (n=1301 were reviewed. Data were analysed using descriptive statistics to summarize chart records, and inferential statistics to investigate significant barriers to earlier treatment.Since 2012, the number of patients treated each year for CMs has increased by over 200% compared to the average annual number of cases treated from 2002-2011. Though delayed presentation of patients to HEAL Hospital was very obvious, with an average age of 8.2 years. We find that patient age has been significantly decreasing (p=0.037 over time. The average distance separating patients from HEAL Hospital was 178 km, with approximately one third living 350 km or further from the treatment center. Distance is the most significant (p=3.33x10(-6 barrier to earlier treatment. When controlling for an interaction between gender and the use of mercy funds, we also find that female patients are at a significant (p=1.04x10(-3 disadvantage to undergo earlier corrective surgery. This disadvantage is further illustrated by our finding that 89% of women and girls, and over 81% of all patients, required mercy funds to cover the cost of surgery in 2014. Lastly, the mortality rate for surgery was low and averaged less than 1.0%.Despite a formal end to the war in 2009, and an overall increase in individuals undergoing corrective surgery, distance, poverty, and gender are still massive barriers to CM care at HEAL Hospital, Goma, DRC. We find that patients have been successfully treated earlier by HEAL, although the average age of CM correction in 2014 (4.9 years is still above average for Sub-Saharan Africa. Thus
Jørgensen, Ditte E S; Vejlstrup, Niels; Jørgensen, Connie
OBJECTIVES: The prenatal detection rate of congenital heart disease (CHD) is low compared with other fetal malformations. Our aim was to evaluate the prenatal detection of CHD in Eastern Denmark. METHODS: Fetuses and infants diagnosed with CHD in the period 01.01.2008-31.12.2010 were assessed...... regarding prenatal detection rate and accuracy, as well as correlation with nuchal translucency (NT) thickness. RESULTS: Out of 86 121 infants, 831 were born with CHD (0.96%). The prenatal detection rate of 'all CHD' was 21.3%, of 'Major CHD' 47.4%. Full agreement between prenatal and postnatal....../autopsy findings was found in 96% of prenatally detected diagnoses. An NT thickness >95(th) percentile was found in 15.0% fetuses with 'Major CHD'. Of 'Major CHDs' detected prenatally, 77% were picked up at the time of the malformation scan at weeks 18-21. CONCLUSIONS: Nearly half of 'Major CHDs' were detected...
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
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.
Karpawich, Peter P
Designed as effective therapy for patients with symptomatic bradycardia, implantable cardiac pacemakers initially served to improve symptoms and survival. With initial applications to the elderly and those with severe myocardial disease, extended longevity was not a major concern. However, with design technology advances in leads and generators since the 1980s, pacemaker therapy is now readily applicable to all age patients, including children with congenital heart defects. As a result, emphasis and clinical interests have advanced beyond simply quantity to quality of life. Adverse cardiac effects of pacing from right ventricular apical or epicardial sites with resultant left bundle branch QRS configurations have been recognized. As a result, and with the introduction of newer catheter-delivered pacing leads, more recent studies have focused on alternative or select pacing sites such as septal, outflow tract, and para-bundle of His. This is especially important in dealing with pacemaker therapy among younger patients and those with congenital heart disease, with expected decades of artificial cardiac stimulation, in which adverse myocellular changes secondary to pacing itself have been reported. As a correlate to these alternate or select pacing sites, applications of left ventricular pacing, either via the coronary sinus, intraseptal or epicardial, alone or in combination with right ventricular pacing, have gained interest for patients with heart failure. Although cardiac resynchronization pacing has, to date, had limited clinical applications among patients with congenital heart disease, the few published reports do indicate potential benefits as a bridge to cardiac transplant. Copyright © 2015 Elsevier Inc. All rights reserved.
Villares, J M Moreno; Leal, L Oliveros; Díaz, I Sánchez; González, P Gómez
Post-surgical morbidity of congenital heart disease operated at early ages still is high. Both pre-surgical malnourishment and the repercussions of the systemic response to the aggression, including extracorporeal circulation contribute to it. The metabolism of proteins has been little studied in these infants and toddlers, as well as its repercussion on clinical outcomes. The aim of this study was to assess the effect of the surgery on the plasma aminogram of infants early operated for complex congenital heart disease. We prospectively gathered the anthropometrical and analytical data of 55 children heart surgery at the day of intervention and at days +1 (n = 53), +3 (n = 39), and +7 (n = 19). The data are presented as mean and standard deviation. The comparison between the variables through time was done by one-tailed analysis of variance for repeated samples. It was considered to be statistically significant with a p value congenital heart disease was within the normal range before the surgery, irrespective of the nutritional status. 2. After the surgery, a significant decrease is observed for plasma levels of most of the amino acids, with a trend towards normalization, which is slower for certain branched amino acids, particularly for glutamine. 3. The clinical significance of these findings deserves further studies.
Kasar, Pankajkumar A; Suresh Kumar, Raghavan Nair; Raman Kutty, Vellappillil
To assess the impact of congenital heart surgery on anthropometric scores of growth in economically disadvantaged children. A cohort of 100 economically disadvantaged children was followed up after cardiac surgery for their nutritional recovery. Weight, height and body mass index for age were measured just before surgery and at a median period of 48.1 months (range 9-59.9 months) after surgery. Z scores of the age-adjusted variables were computed and McNemar OR was calculated for odds of improvement. The mean weight for age of the cohort increased from 14.74±5.76 to 23.83±7.83 kg. In malnourished children (weight for age Z score ≤-2) the mean weight changed from -3.01 to -1.6 (pcongenital heart disease or associated syndromes. Congenital heart surgery resulted in a salutary improvement in the growth of children from economically underprivileged backgrounds. Residual malnutrition was likely to be associated with extreme economic backwardness, surgery for cyanotic congenital heart disease or coincidental syndromes.
Full Text Available As more children survive with congenital heart diseases, management of their behavioural problems are becoming increasingly important. In this article we aim to review the current status of knowledge on this aspect. Children with congenital heart diseases have more behavioural problems compared to children without chronic illnesses. Behavioural problems in children can be classified into externalizing behaviours and internalizing behaviours. Externalizing behaviours are marked by defiance, impulsivity, hyperactivity, disruptiveness, aggression and antisocial features. Internalizing behaviours are evidenced by withdrawal, dysphoria and anxiety. Boys with congenital heart diseases have more externalizing problems compared to girls. Preoperative hypoxia as well as peri and postoperative cardiocirculatory insufficiency can lead to internalizing and externalizing behavioral problems in future. High treatment intensity and palliative interventions are associated with poor behavioral outcomes. Children who underwent open heart surgery at very young age are prone to develop attention-deficit hyperactivity disorder on reaching school age. A comprehensive approach in this field is essential, so that effective early interventions and guidance can be planned.
Joana Angélica Marques Pinheiro
Full Text Available Introduction: This article discusses the experience of mothers during the process of falling ill of their children with congenital heart disease. Method: This is a descriptive research with qualitative approach conducted with nine mothers who had their babies admitted to a pediatric cardiology unit in a reference center for treatment of congenital heart disease in the North and Northeast regions in Brazil located in Fortaleza, Ceará. Information and reports on the experience of these mothers emerging from the diagnosis process, surgery, treatment and hospitalization were collected in semi-structured individual interviews. After interviews, the testimonies of mothers were transcribed in full-length, identifying the speeches with the codes M1, M2,...M9, thereby ensuring anonymity. We used the thematic analysis technique of Minayo (2012 for treatment of information and design of the content of this article. This article is part of the research project: Breastfeeding babies with heart disease, approved by the Research Ethics Committee of the Messejana Hospital, under Opinion No 1,285,784. Results: The study demonstrated that infants with congenital heart disease require specific and specialized care and that mothers undertake a long and sometimes painful journey in the search for the healing of their child. Conclusion: Based on the collected speeches, we learned that mothers also need to be assisted by professionals of the health team. They must support the mother's empowerment in the child care and strengthen the relationship of the mother-infant binomial, and help in coping and adapting to the reality in the process of falling ill and healing of their child. Key words: Congenital heart disease. Experience of mothers
Full Text Available Abstract Introduction X-linked adrenoleukodystrophy leads to demyelination of the nervous system, adrenal insufficiency, and accumulation of long-chain fatty acids. Most young patients with X-linked adrenoleukodystrophy develop seizures and progressive neurologic deficits, and die within the first two decades of life. Congenital or acquired disorders of the respiratory system have not been previously described in patients with X-linked adrenoleukodystrophy. Case presentation A 3-year-old Arabic boy from Yemen presented with discoloration of the mucous membranes and nail beds, which were considered cyanoses due to methemoglobinemia. He also had shortness of breath, fatigue, emesis and dehydration episodes for which he was admitted to our hospital. Chest radiograph and chest computed tomography scans showed congenital pulmonary adenomatoid malformation. A few weeks before the removal of the malformation, he had a significant episode of hypotension and hypoglycemia. This development required further in-hospital evaluation that led to the diagnosis of adrenal insufficiency and the initiation of treatment with corticosteroids. One year later, he developed seizures and loss of consciousness. Magnetic resonance imaging of his head showed diffuse demyelination secondary to X-linked adrenoleukodystrophy. He was treated with anti-seizure and anti-oxidants, and was referred for bone marrow transplant evaluation. Conclusion The presence of adrenal insufficiency, neurologic deficits and seizures are common manifestations of X-linked adrenoleukodystrophy. The association of congenital lung disease with X-linked adrenoleukodystrophy or Addison's disease has not been described previously.
Jacobs, Jeffrey P; Pasquali, Sara K; Austin, Erle; Gaynor, J William; Backer, Carl; Hirsch-Romano, Jennifer C; Williams, William G; Caldarone, Christopher A; McCrindle, Brian W; Graham, Karen E; Dokholyan, Rachel S; Shook, Gregory J; Poteat, Jennifer; Baxi, Maulik V; Karamlou, Tara; Blackstone, Eugene H; Mavroudis, Constantine; Mayer, John E; Jonas, Richard A; Jacobs, Marshall L
The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) is the largest Registry in the world of patients who have undergone congenital and pediatric cardiac surgical operations. The Congenital Heart Surgeons' Society Database (CHSS-D) is an Academic Database designed for specialized detailed analyses of specific congenital cardiac malformations and related treatment strategies. The goal of this project was to create a link between the STS-CHSD and the CHSS-D in order to facilitate studies not possible using either individual database alone and to help identify patients who are potentially eligible for enrollment in CHSS studies. Centers were classified on the basis of participation in the STS-CHSD, the CHSS-D, or both. Five matrices, based on CHSS inclusionary criteria and STS-CHSD codes, were created to facilitate the automated identification of patients in the STS-CHSD who meet eligibility criteria for the five active CHSS studies. The matrices were evaluated with a manual adjudication process and were iteratively refined. The sensitivity and specificity of the original matrices and the refined matrices were assessed. In January 2012, a total of 100 centers participated in the STS-CHSD and 74 centers participated in the CHSS. A total of 70 centers participate in both and 40 of these 70 agreed to participate in this linkage project. The manual adjudication process and the refinement of the matrices resulted in an increase in the sensitivity of the matrices from 93% to 100% and an increase in the specificity of the matrices from 94% to 98%. Matrices were created to facilitate the automated identification of patients potentially eligible for the five active CHSS studies using the STS-CHSD. These matrices have a sensitivity of 100% and a specificity of 98%. In addition to facilitating identification of patients potentially eligible for enrollment in CHSS studies, these matrices will allow (1) estimation of the denominator of patients potentially
Jacobs, Jeffrey P.; Pasquali, Sara K.; Austin, Erle; Gaynor, J. William; Backer, Carl; Hirsch-Romano, Jennifer C.; Williams, William G.; Caldarone, Christopher A.; McCrindle, Brian W.; Graham, Karen E.; Dokholyan, Rachel S.; Shook, Gregory J.; Poteat, Jennifer; Baxi, Maulik V.; Karamlou, Tara; Blackstone, Eugene H.; Mavroudis, Constantine; Mayer, John E.; Jonas, Richard A.; Jacobs, Marshall L.
Purpose The Society of Thoracic Surgeons Congenital Heart Surgery Database (STS-CHSD) is the largest Registry in the world of patients who have undergone congenital and pediatric cardiac surgical operations. The Congenital Heart Surgeons’ Society Database (CHSS-D) is an Academic Database designed for specialized detailed analyses of specific congenital cardiac malformations and related treatment strategies. The goal of this project was to create a link between the STS-CHSD and the CHSS-D in order to facilitate studies not possible using either individual database alone and to help identify patients who are potentially eligible for enrollment in CHSS studies. Methods Centers were classified on the basis of participation in the STS-CHSD, the CHSS-D, or both. Five matrices, based on CHSS inclusionary criteria and STS-CHSD codes, were created to facilitate the automated identification of patients in the STS-CHSD who meet eligibility criteria for the five active CHSS studies. The matrices were evaluated with a manual adjudication process and were iteratively refined. The sensitivity and specificity of the original matrices and the refined matrices were assessed. Results In January 2012, a total of 100 centers participated in the STS-CHSD and 74 centers participated in the CHSS. A total of 70 centers participate in both and 40 of these 70 agreed to participate in this linkage project. The manual adjudication process and the refinement of the matrices resulted in an increase in the sensitivity of the matrices from 93% to 100% and an increase in the specificity of the matrices from 94% to 98%. Conclusion Matrices were created to facilitate the automated identification of patients potentially eligible for the five active CHSS studies using the STS-CHSD. These matrices have a sensitivity of 100% and a specificity of 98%. In addition to facilitating identification of patients potentially eligible for enrollment in CHSS studies, these matrices will allow (1) estimation of
Kuehl, Karen; Tucker, Alicia; Khan, Munziba; Goldberg, Paula; Anne Greene, E; Smith, Megan
Overweight (OW) and obesity (OB) are endemic in the United States and affect adolescents and adults with congenital heart disease (ACHD). Defining the burden of excess weight on the cardiovascular system in ACHD is the goal of this study. Limitation of exercise capacity due to overweight or obesity might be reversible with weight loss and improve quality of life for ACHD adults. Exercise tests performed using a Bruce protocol and measurement of maximum oxygen consumption were retrospectively reviewed on 418 CHD patients. OW and OB were defined as the 85-95 or > 95 percentile respectively for age and gender or by adult criteria. Severity of CHD was assigned based on criteria published in standard guidelines. 63 patients had mild, 198 moderate, and 157 severe heart disease. Each ACHD group was 32 to 34% OW or OB. Measured exercise time (ET) of CHD patients with moderate or severe heart disease was less than that of controls in each weight categories. However, OB or OW people have shorter ET than their normal weight peers with CHD. Multiple regression using ET as the dependent variable finds that female sex, relative BMI, and VE/VCO2 at peak exercise are all associated with lesser ET with high significance. Peak heart rate is associated with greater ET, with borderline significance. Severity of heart disease is not independently associated with ET. OW and OB are strongly associated with reduced ET in persons with congenital heart disease. Losing weight may improve exercise capacity in ACHD.
Shokoufeh Ahmadipour; Behzad Mohammadpour Ahranjani; Sara Daeichin; Zahra Mirbeig Sabzevari
Objective: To investigate the prevalence of congenital heart disease (CHD) among the patients who refferred to the heart clinic so as to make an early and correct diagnosis. Methods: In this descriptive-cross sectional study, all the patients admitted to the heart clinic who had symptoms or signs of CHD were included. The data were collected in one year based on the medical records. The main variables consisted of age, gender, history of folic acid consumption by the mother in ...
Ji, Yongchang; Buel, Sharleen M; Amack, Jeffrey D
Pitx2 is a conserved homeodomain transcription factor that has multiple functions during embryonic development. Mutations in human PITX2 cause autosomal dominant Axenfeld-Rieger syndrome (ARS), characterized by congenital eye and tooth malformations. Pitx2(-/-) knockout mouse models recapitulate aspects of ARS, but are embryonic lethal. To date, ARS treatments remain limited to managing individual symptoms due to an incomplete understanding of PITX2 function. In addition to regulating eye and tooth development, Pitx2 is a target of a conserved Nodal (TGFβ) signaling pathway that mediates left-right (LR) asymmetry of visceral organs. Based on its highly conserved asymmetric expression domain, the Nodal-Pitx2 axis has long been considered a common denominator of LR development in vertebrate embryos. However, functions of Pitx2 during asymmetric organ morphogenesis are not well understood. To gain new insight into Pitx2 function we used genome editing to create mutations in the zebrafish pitx2 gene. Mutations in the pitx2 homeodomain caused phenotypes reminiscent of ARS, including aberrant development of the cornea and anterior chamber of the eye and reduced or absent teeth. Intriguingly, LR asymmetric looping of the heart and gut was normal in pitx2 mutants. These results suggest conserved roles for Pitx2 in eye and tooth development and indicate Pitx2 is not required for asymmetric looping of zebrafish visceral organs. This work establishes zebrafish pitx2 mutants as a new animal model for investigating mechanisms underlying congenital malformations in ARS and high-throughput drug screening for ARS therapeutics. Additionally, pitx2 mutants present a unique opportunity to identify new genes involved in vertebrate LR patterning. We show Nodal signaling-independent of Pitx2-controls asymmetric expression of the fatty acid elongase elovl6 in zebrafish, pointing to a potential novel pathway during LR organogenesis. Copyright © 2016 Elsevier Inc. All rights reserved.
Siripornpitak, Suvipaporn, E-mail: email@example.com [Division of Diagnostic Radiology, Department of Diagnostic and Therapeutic Radiology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Pornkul, Ratanaporn [Division of Diagnostic Radiology, Department of Diagnostic and Therapeutic Radiology, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Khowsathit, Pongsak [Pediatric Cardiac Unit, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand); Layangool, Thanarat; Promphan, Worakan [Pediatric Cardiology Unit, Queen Sirikit National Institute of Child Health, Bangkok (Thailand); Pongpanich, Boonchob [Pediatric Cardiac Unit, Department of Pediatrics, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok (Thailand)
Cardiac imaging plays an important role in both congenital and acquired heart diseases. Cardiac computed tomography (angiography) cCT(A) is a non-invasive, increasingly popular, complementary modality to echocardiography in evaluation of congenital heart diseases (CHD) in children. Despite radiation exposure, cCT(A) is now commonly used for evaluation of the complex CHD, giving information of both intra-cardiac and extra-cardiac anatomy, coronary arteries, and vascular structures. This review article will focus on the fundamentals and essentials for performing cCT(A) in children, including radiation dose awareness, basic techniques, and strengths and weaknesses of cCT(A) compared with cardiac magnetic resonance imaging (cMRI), and applications. The limitations of this modality will also be discussed, including the CHD for which cMRI may be substituted.
Alan H Bittles
Full Text Available Numerous articles have been published linking consanguineous marriage to an elevated prevalence of congenital heart disease, with ventricular septal defects and atrial septal defects the most commonly cited disorders. While initially persuasive, on closer examination many of these studies have fundamental shortcomings in their design and in the recruitment of study subjects and controls. Improved matching of cases and controls, to include recognition of the long-established community boundaries within which most marriages are contracted, and the assessment of consanguinity within specific levels and types of marital union would improve and help to focus the study outcomes. At the same time, major discrepancies between studies in their reported prevalence and types of congenital heart disease suggest an urgent need for greater standardization in the classification and reporting of these disorders.
Monteiro, Flávia Paula Magalhães; de Araujo, Thelma Leite; Lopes, Marcos Venícios de Oliveira; Chaves, Daniel Bruno Resende; Beltrão, Beatriz Amorim; Costa, Alice Gabrielle de Sousa
to characterize nutritional status and variables that predict nutritional changes in children with congenital heart disease. a cross-sectional study undertaken in two health institutions between January and June 2009, using a questionnaire with questions about nutrition, applied to 132 children under two years of age who had congenital heart disease. Children who had additional serious illnesses were excluded. the predominant percentile values and Z scores were concentrated within the range of normal levels. The Z scores, however, presented negative variations with a deviation to the left. In the analysis of predictive factors, the occurrence of immediate and acute malnutrition was related to a decrease in skinfold thickness (decrease in subscapular skinfold thickness, while immediate malnutrition was related to a high Apgar score. Chronic malnutrition was related to female children with higher ages. it is evidenced that it is necessary to carry out nutritional strategies which improve prognosis, so as to widen the nursing care directed at these children.
Botto, Lorenzo D; Krikov, Sergey; Carmichael, Suzan L; Munger, Ronald G; Shaw, Gary M; Feldkamp, Marcia L
To evaluate whether better diet quality in mothers is associated with lower risk for major non-syndromic congenital heart defects in their children. Multicentre population-based case-control study, the National Birth Defects Prevention Study. Ten sites in the USA. Mothers of babies with major non-syndromic congenital heart defects (n=9885) and mothers with unaffected babies (n=9468) with estimated date of delivery from 1997 to 2009. Adjusted ORs for specific major congenital heart defects by quartiles of maternal diet quality in the year before pregnancy, assessed by the Diet Quality Index for pregnancy (DQI-P) and the Mediterranean Diet Score. Quartile 1 (Q1) reflecting the worst diet quality and Q4 the best diet quality. Better diet quality was associated with reduced risk for some conotruncal and atrial septal heart defects. For DQI-P, estimated risks reductions (Q4 vs Q1) for conotruncal defects were 37% for tetralogy of Fallot (OR 0.63, 95% CI 0.49 to 0.80) and 24% overall (OR 0.76, 95% CI 0.64 to 0.91); and for septal defects, 23% for atrial septal defects (OR 0.77, 95% CI 0.63 to 0.94) and 14% overall (OR 0.86, 95% CI 0.75 to 1.00). Risk reductions were weaker or minimal for most other major congenital heart defects. Better diet quality is associated with a reduced occurrence of some conotruncal and septal heart defects. This finding suggests that a reduction in certain cardiac malformations may be an additional benefit of improved maternal diet quality, reinforcing current preconception care recommendations. 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/
Zhang, Qing-Jun; Liu, Zhi-Ping
Heart development comprises myocyte specification, differentiation and cardiac morphogenesis. These processes are regulated by a group of core cardiac transcription factors in a coordinated temporal and spatial manner. Histone methylation is an emerging epigenetic mechanism for regulating gene transcription. Interplay among cardiac transcription factors and histone lysine modifiers plays important role in heart development. Aberrant expression and mutation of the histone lysine modifiers duri...
Wheat, Jeffrey C.
Children and infants with congenital heart disease (CHD) often have disturbances in growth and development. Recent research suggests that this is due mainly to inadequate caloric intake and increased energy expenditure as compared to normal children (1). This presents a significant problem because if left untreated these children can develop permanent disabilities and poorer outcomes after corrective surgery. In order to treat this problem, a systematic approach must be used to identify the s...
Alan H Bittles
Numerous articles have been published linking consanguineous marriage to an elevated prevalence of congenital heart disease, with ventricular septal defects and atrial septal defects the most commonly cited disorders. While initially persuasive, on closer examination many of these studies have fundamental shortcomings in their design and in the recruitment of study subjects and controls. Improved matching of cases and controls, to include recognition of the long-established community boundari...
Hegazi, Mohamed Ali; Shalaby, Rokaya Hussen
CHD represents the most important component of pediatric cardiovascular diseases. It has a high risk of morbidity and mortality in newborns and infants. were considered as multifactorial diseases. However genetic factors were considered as a corner stone of their etiology. The DNA content represents the nuclear genomic concentration. It is affected by several multifactors. Objective: The aim of our study was to determine the DNA content in particular common congenital heart disease. To det...
Shieh, Joseph T. C.; Bittles, Alan H.; Hudgins, Louanne
Consanguineous unions have been associated with an increased susceptibility to various forms of inherited disease. Although consanguinity is known to contribute to recessive diseases, the potential role of consanguinity in certain common birth defects is less clear, particularly since the disease pathophysiology may involve genetic and environmental/epigenetic factors. In this study we ask whether consanguinity affects one of the most common birth defects, congenital heart disease, and identi...
Seckeler, Michael D; Thomas, Ian D; Andrews, Jennifer; Joiner, Keith; Klewer, Scott E
Adults living with congenital heart disease (CHD) now outnumber children with the disease. Thanks to medical advances over the past 75 years, many of these fatal childhood heart problems have changed to chronic medical conditions. As the population of adults with CHD increases, they will require increasingly complex medical, surgical and catheter-based therapies. In addition, social burdens including education, employment and insurability, which increase the societal costs of adult CHD, are now being recognized for adults living with CHD. This review summarizes the available literature on the economics of adult CHD.
Fuenmayor, Gabriela; Redondo, Ana Carolina Costa; Shiraishi, Karen Saori [Hospital do Coração - Associação do Sanatório Sírio, São Paulo, SP (Brazil); Souza, Rogerio [Hospital do Coração - Associação do Sanatório Sírio, São Paulo, SP (Brazil); Instituto do Coração, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, SP (Brazil); Elias, Patrícia Figueiredo; Jatene, Ieda Biscegli, E-mail: firstname.lastname@example.org [Hospital do Coração - Associação do Sanatório Sírio, São Paulo, SP (Brazil)
Dyslipidemia is one of the main risk factors associated with cardiovascular diseases. Few data on the impacts of congenital heart diseases are available with regard to the prevalence of dyslipidemia in children. Our study evaluated the lipid profile in children with congenital heart disease at a referral center. From January 2011 to July 2012, 52 pediatric patients had their lipid, metabolic and clinical profiles traced. The mean age was 10.4 ± 2.8 years and male/female rate of 1.38:1. Our population had 53.8% patients with high levels of total cholesterol and 13.4% (CI 95 %, from 6.6 to 25.2%) of them also presenting LDL levels ≥ 130 mg/dL, which characterizes dyslipidemia. The group of dyslipidemic patients presented only two obese individuals. Our data show that the presence of congenital heart disease does not lead to higher risk associated with the prevalence of dyslipidemia. Therefore, the screening of this specific population should follow the regular pediatric guidelines, which are also independent of the nutritional status of the children tested.
Elsherif, Zeinelabdien; Mahmood, Naveed; Jamil, Shazia; Wagas, Hadeel
A single ventricle is a rare congenital heart disease that accounts for less than 1% of all congenital heart diseases. A woman was assessed in our obstetric clinic for the first time at the gestational age of 28 weeks and found to have placental bleeding. She also had complex congenital heart disease and atrial fibrillation requiring anticoagulation. Echocardiography revealed double-inlet single ventricle with right and left atrioventricular valves entering into this chamber and levo-transposition of the great arteries. After an extensive discussion with the patient regarding the risks and benefits of anticoagulation including risk of stroke, the agreed plan was to start her on intravenous heparin with close observation and to continue pregnancy for at least 32 weeks in order to reduce the postpartum risk for the fetus. The pregnancy progressed without any further complications and the patient had elective caesarean section at 33 weeks of gestation and delivered a healthy baby boy. 2015 BMJ Publishing Group Ltd.
El-Alameey, Inas R; Ahmed, Hanaa H; Tawfik, Sawsan M; Hassaballa, Fawzia; Gawad, Ayman M Abdel; Eltahlawy, Eman
Gastrointestinal symptoms are a common feature in infants with congenital heart disease. This study was designed to evaluate age-dependent serum levels of antigliadin antibodies among malnourished Egyptian infants with congenital heart disease (CHD) and gastrointestinal symptoms. This case-control study conducted on 60 infants with established congenital heart disease. They were subdivided into cyanotic and acyanotic groups, and each group includes 30 patients compared with thirty apparently healthy infants of matched age, sex, and social class. Serum antigliadin antibodies levels were measured using ELISA. The mean age of introduction of cereals in the diet and appearance of gastrointestinal symptoms were six months. On comparison with controls, patients showed highly significant higher serum levels of antigliadin antibodies (P < 0.000). On analysing risk factors using odds ratio, the age at onset of GIT symptoms, diarrhoea, abdominal pain, and distension had been found to be significantly associated with high serum antigliadin antibodies among malnourished CHD infants with a prediction of 95%. Serum IgA, IgM, and IgG class antibodies to gliadin play a significant role in the pathogenesis of malnutrition in infants with CHD. Gluten containing foods should never be introduced before the end of the six months.
Fuenmayor, Gabriela; Redondo, Ana Carolina Costa; Shiraishi, Karen Saori; Souza, Rogerio; Elias, Patrícia Figueiredo; Jatene, Ieda Biscegli
Dyslipidemia is one of the main risk factors associated with cardiovascular diseases. Few data on the impacts of congenital heart diseases are available with regard to the prevalence of dyslipidemia in children. Our study evaluated the lipid profile in children with congenital heart disease at a referral center. From January 2011 to July 2012, 52 pediatric patients had their lipid, metabolic and clinical profiles traced. The mean age was 10.4 ± 2.8 years and male/female rate of 1.38:1. Our population had 53.8% patients with high levels of total cholesterol and 13.4% (CI 95 %, from 6.6 to 25.2%) of them also presenting LDL levels ≥ 130 mg/dL, which characterizes dyslipidemia. The group of dyslipidemic patients presented only two obese individuals. Our data show that the presence of congenital heart disease does not lead to higher risk associated with the prevalence of dyslipidemia. Therefore, the screening of this specific population should follow the regular pediatric guidelines, which are also independent of the nutritional status of the children tested.
O'Brien, Sean M; Jacobs, Jeffrey P; Pasquali, Sara K; Gaynor, J William; Karamlou, Tara; Welke, Karl F; Filardo, Giovanni; Han, Jane M; Kim, Sunghee; Shahian, David M; Jacobs, Marshall L
... after congenital cardiac operations. Included were patients of all ages undergoing cardiac operations, with or without cardiopulmonary bypass, at centers participating in The Society of Thoracic Surgeons Congenital Heart Surgery Data...
Cameron, J W; Rosenthal, A; Olson, A D
To determine the prevalence of malnutrition among hospitalized children with congenital heart disease by age, disease process, and clinical status. Cross-sectional, retrospective chart review. Pediatric cardiology units at a 150-bed tertiary care teaching hospital in Ann Arbor, Mich. Patients (n = 160) were randomly selected from consecutive admissions to the Pediatric Cardiology and Thoracic Surgery Services during a 1-year period. None. Acute and chronic malnutrition, assessed by comparing the patients' weight and height with established means. Acute and chronic malnutrition occurred in 33% and 64% of the patients, respectively. Age, diagnostic category, and symptoms were associated with malnutrition. Eighty percent of infants presented with acute malnutrition compared with 18% of patients of other ages (P heart disease, and no patients with primary rhythm disturbances. Acute malnutrition affected 11% and chronic malnutrition affected 50% of patients with left-sided heart obstruction. Acute or chronic malnutrition occurred in 70% or more of patients with cyanosis and/or congestive heart failure but in only 30% of patients with neither (P congenital heart disease remains common, highlighting the importance of nutritional screening and intervention.
Hoang, Thanh T; Goldmuntz, Elizabeth; Roberts, Amy E; Chung, Wendy K; Kline, Jennie K; Deanfield, John E; Giardini, Alessandro; Aleman, Adolfo; Gelb, Bruce D; Mac Neal, Meghan; Porter, George A; Kim, Richard; Brueckner, Martina; Lifton, Richard P; Edman, Sharon; Woyciechowski, Stacy; Mitchell, Laura E; Agopian, A J
The Pediatric Cardiac Genomics Consortium (PCGC) designed the Congenital Heart Disease Genetic Network Study to provide phenotype and genotype data for a large congenital heart defects (CHDs) cohort. This article describes the PCGC cohort, overall and by major types of CHDs (e.g., conotruncal defects) and subtypes of conotrucal heart defects (e.g., tetralogy of Fallot) and left ventricular outflow tract obstructions (e.g., hypoplastic left heart syndrome). Cases with CHDs were recruited through ten sites, 2010-2014. Information on cases (N = 9,727) and their parents was collected through interviews and medical record abstraction. Four case characteristics, eleven parental characteristics, and thirteen parent-reported neurodevelopment outcomes were summarized using counts and frequencies and compared across CHD types and subtypes. Eleven percent of cases had a genetic diagnosis. Among cases without a genetic diagnosis, the majority had conotruncal heart defects (40%) or left ventricular outflow tract obstruction (21%). Across CHD types, there were significant differences (ptypes and subtypes, provides a reference work for investigators who are interested in collaborating with or using publically available resources from the PCGC.
Shumway, Norman E.; Lower, Richard R.; Hurley, Edward J.; Dong, Eugene; Stofer, Raymond C.
Probably the most important continuing advance in the treatment of congenital heart disease is the ever-diminishing risk of operations on the open heart. The uncomplicated septal defect or valvular stenosis is now corrected under direct vision with essentially the same risk as that which attends the routine operation for patent ductus arteriosus. Perfusion systems, and corrective heart operations, are now available for any patient who weighs 10 kilograms or more; palliative operations are often prescribed for critically ill patients weighing less than 10 kilograms. With respect to the future, successful removal and replantation of the heart in dogs opens the door for imaginative approaches to many states now considered inoperable. Still more inspiring is the realization that cardiac homotransplantation is surgically feasible and immunologically possible, if specific transplantation antigens can be isolated. PMID:13912411
Goldstein, Sarah A; Ward, Cary C
The number of pregnancies complicated by valvular heart disease is increasing. This review describes the hemodynamic effects of clinically important valvular abnormalities during pregnancy and reviews current guideline-driven management strategies. Valvular heart disease in women of childbearing age is most commonly caused by congenital abnormalities and rheumatic heart disease. Regurgitant lesions are well tolerated, while stenotic lesions are associated with a higher risk of pregnancy-related complications. Management of symptomatic disease during pregnancy is primarily medical, with percutaneous interventions considered for refractory symptoms. Most guidelines addressing the management of valvular heart disease during pregnancy are based on case reports and observational studies. Additional investigation is required to further advance the care of this growing patient population.
Tsai, Fang-Yi; Lau, Ling-Ing; Chen, Shih-Jen; Lee, Fenq-Lih
Retinal detachment with a break at the pars plicata associated with congenital malformation of lens-zonule-ciliary body complex is rare; most reports are of young Japanese male patients with atopic dermatitis. The present case report is the first to describe the condition in a Chinese patient with no atopic dermatitis or trauma history. A 22-year-old male presented with blurred vision in the left eye for 4 months. Fundus examination revealed shallow lower temporal retinal detachment. Further examination with scleral indentation under maximal pupil dilatation identified a break at the far periphery beyond the ora serrata and pars plana. Gonioscopy revealed a pars plicata break at the nonpigmented ciliary epithelium associated with congenital ciliary process hypoplasia and subtle lens defect at the same meridian. The retina was successfully reattached after segmental scleral buckling, cryopexy, and laser photocoagulation.
Sípek, A; Gregor, V; Horáček, J; Sípek, A; Langhammer, P
An analysis of incidences of selected birth defects in the Czech Republic in 2000 - 2008 period. Retrospective epidemiological analysis of birth defects incidences in births and total birth defects incidences (including prenatally diagnosed cases) from the Czech National Birth Defects Register database. Data from the National Birth Defects Register (Institute for Health Information and Statistics) in the Czech Republic in the 2000 - 2008 period were used along with data on prenatally diagnosed defects from particular departments of medical genetics. Sixteen selected defects (anencephaly, spina bifida, encephalocele, congenital hydrocephalus, coarctation of aorta, transposition of great vessels, hypoplastic left heart syndrome, Fallot tetralogy, omphalocele, gastroschisis, diaphragmatic hernia, oesophageal atresia and stenosis, anorectal malformations, Down syndrome, Edwards syndrome and Patau syndrome) were analyzed in detail. There were 119 570 live births (61 326 boys and 58 244 girls) in 2008. In the same period, 4664 live births with a birth defect (under the age of one year) were reported, out of which 2754 boys and 1910 girls. Mean incidence was 390.06 (449.08 in boys and 327.93 in girls) per 10 000 live births. In 1994 - 2006, totally 1 238 398 children were born, out of which more than 42 000 with a birth defect. In the 2000 - 2006 period, absolute numbers of diagnosed live births with birth defect varied between 3600 - 3800 cases per year while in 2007 and 2008 years absolute numbers raised over 4600 cases per year. During 2000 - 2008 period following mean incidences (per 10 000 live births) of selected defects were ascertained (total incidences including prenatal diagnostics in brackets): anencephaly 0 - 0.3 (1.9 - 3.7), spina bifida 0.7 - 2.3 (3.2 - 5.2), encephalocele 0.1 - 0.4 (0.9 - 2.4), congenital hydrocephalus 1.6 - 3.5 (5.3 - 7.0), coarctation of aorta 3.9 - 5.2 (4.8 - 6.1), transposition of great vessels 2.9 - 4.5 (3.2 - 5.0), hypoplastic left
Erić, Mirela; Vucković, Nada; Pilija, Vladimir; Misolić, Mirjana
Congenital malformations are morphological developmental anomalies visible during clinical examination or autopsy (in case of death, stillborn or abortion). Their incidence in human population is estimated to be between 5-10%, and perinatal mortality rate varies from 20-25%. The research was conducted at the Department of Pathology and Histology and at the Department of Obstetrics and Gynecology in Novi Sad. We analyzed autopsy reports of newborns (under 28 days old), stillborns and miscarried fetuses in 1991 and 2001. Data on type and incidence of malformations in 1991 and 2001 were compared in order to determine statistically significant differences. Autopsy reports for 1991 revealed malformations in 21 cases, whereas autopsies were performed in 103 fetuses and newborns. The total number of deliveries at the Department of Obstetrics and Gynecology in Novi Sad was 6,160. Autopsy reports for 2001 revealed malformations in 33 cases, and autopsies were performed in 126 fetuses and newborns. The total number of deliveries at the Department of Obstetrics and Gynecology in Novi Sad was 6,101. Comparison regarding incidence of malformations in 1991 and 2001, showed no statistically significant difference. Congenital malformations are the most important cause of prenatal and perinatal mortality and morbidity. One reason for that is better treatment of other diseases, but on the other side, there are more toxic materials in human environment. It is concluded that the incidence of congenital malformations in mortality of fetuses and newborns is high (20.39% in 1991, and 26.19% in 2001). We can also point to increase of central nervous system malformations in comparison with malformations of other organ systems.
Gurvitz, Michelle; Burns, Kristin M.; Brindis, Ralph; Broberg, Craig S.; Daniels, Curt J.; Fuller, Stephanie M.P.N.; Honein, Margaret A.; Khairy, Paul; Kuehl, Karen S.; Landzberg, Michael J.; Mahle, William T.; Mann, Douglas L.; Marelli, Ariane; Newburger, Jane W.; Pearson, Gail D.; Starling, Randall C.; Tringali, Glenn R.; Valente, Anne Marie; Wu, Joseph C.; Califf, Robert M.
Congenital heart disease (CHD) is the most common birth defect, affecting about 0.8% of live births. Advances in recent decades have allowed >85% of children with CHD to survive to adulthood, creating a growing population of adults with CHD. Little information exists regarding survival, demographics, late outcomes, and comorbidities in this emerging group, and multiple barriers impede research in adult CHD (ACHD). The National Heart, Lung, and Blood Institute and the Adult Congenital Heart Association convened a multidisciplinary Working Group to identify high-impact research questions in ACHD. This report summarizes the meeting discussions in the broad areas of CHD-related heart failure, vascular disease and multisystem complications. High-priority subtopics identified included heart failure in tetralogy of Fallot, mechanical circulatory support/transplantation, sudden cardiac death, vascular outcomes in coarctation of the aorta, late outcomes in single ventricle disease, cognitive and psychiatric issues, and pregnancy. PMID:27102511
Simmons, M Abigail; Brueckner, Martina
This review has two purposes: to provide an updated review of the genetic causes of congenital heart disease (CHD) and the clinical implications of these genetic mutations, and to provide a clinical algorithm for clinicians considering a genetics evaluation of a CHD patient. A large portion of congenital heart disease is thought to have a significant genetic contribution, and at this time a genetic cause can be identified in approximately 35% of patients. Through the advances made possible by next generation sequencing, many of the comorbidities that are frequently seen in patients with genetic congenital heart disease patients can be attributed to the genetic mutation that caused the congenital heart disease. These comorbidities are both cardiac and noncardiac and include: neurodevelopmental disability, pulmonary disease, heart failure, renal dysfunction, arrhythmia and an increased risk of malignancy. Identification of the genetic cause of congenital heart disease helps reduce patient morbidity and mortality by improving preventive and early intervention therapies to address these comorbidities. Through an understanding of the clinical implications of the genetic underpinning of congenital heart disease, clinicians can provide care tailored to an individual patient and continue to improve the outcomes of congenital heart disease patients.
Pasquali, Sara K; Jacobs, Jeffrey P; Farber, Gregory K; Bertoch, David; Blume, Elizabeth D; Burns, Kristin M; Campbell, Robert; Chang, Anthony C; Chung, Wendy K; Riehle-Colarusso, Tiffany; Curtis, Lesley H; Forrest, Christopher B; Gaynor, William J; Gaies, Michael G; Go, Alan S; Henchey, Paul; Martin, Gerard R; Pearson, Gail; Pemberton, Victoria L; Schwartz, Steven M; Vincent, Robert; Kaltman, Jonathan R
The National Heart, Lung, and Blood Institute convened a working group in January 2015 to explore issues related to an integrated data network for congenital heart disease research. The overall goal was to develop a common vision for how the rapidly increasing volumes of data captured across numerous sources can be managed, integrated, and analyzed to improve care and outcomes. This report summarizes the current landscape of congenital heart disease data, data integration methodologies used across other fields, key considerations for data integration models in congenital heart disease, and the short- and long-term vision and recommendations made by the working group. © 2016 American Heart Association, Inc.
Prashant Shah; Kunjang Sherpa; Naveen Kumar Pandey; Bhawani Manandhar; Sahadeb Prasad Dhungana
Background & Objectives: Congenital heart diseases are neglected especially in world’s poorest nations and appear to be ignored and unexplored dimension of health. The exact prevalence and spectrum of congenital heart diseases in Nepal is largely unknown. The aim of this study was to describe the local experience on the magnitude and the pattern of congenital heart disease in order to increase the awareness of the public and health policy makers on its burden in Nepal.Materials & Meth...
Gerardin, Jennifer F; Menk, Jeremiah S; Pyles, Lee A; Martin, Cindy M; Lohr, Jamie L
As the adult congenital heart disease population increases, poor transition from pediatric to adult care can lead to suboptimal quality of care and an increase in individual and institutional costs. In 2008, the American College of Cardiology and American Heart Association updated the adult congenital heart disease practice guidelines and in 2011, the American Heart Association recommended transition guidelines to standardize and encourage appropriate timing of transition to adult cardiac services. The objective of this study was to evaluate if patient age or complexity of congenital heart disease influences pediatric cardiologists' decision to transfer care to adult providers and to evaluate the compliance of different types of cardiology providers with current adult congenital heart disease treatment guidelines. A single-center retrospective review of 991 adult congenital heart disease patients identified by ICD-9 code from 2010 to 2012. Academic and community outpatient cardiology clinics. Nine hundred ninety-one patients who are 18 years and older with congenital heart disease. None. The compliance with health maintenance and transfer of care recommendations in the outpatient setting. For patients seen by pediatric cardiologists, only 20% had transfer of care discussions documented, most often in younger simple patients. Significant differences in compliance with preventative health guidelines were found between cardiology provider types. Even though a significant number of adults with congenital heart disease are lost to appropriate follow-up in their third and fourth decades of life, pediatric cardiologists discussed transfer of care with moderate and complex congenital heart disease patients less frequently. Appropriate transfer of adults with congenital heart disease to an adult congenital cardiologist provides an opportunity to reinforce the importance of regular follow-up in adulthood and may improve outcomes as adult congenital cardiologists followed the
Vasilyev, Nikolay V; Dupont, Pierre E; del Nido, Pedro J
The initial success seen in adult cardiac surgery with the application of available robotic systems has not been realized as broadly in pediatric cardiac surgery. The main obstacles include extended set-up time and complexity of the procedures, as well as the large size of the instruments with respect to the size of the child. Moreover, while the main advantage of robotic systems is the ability to minimize incision size, for intracardiac repairs, cardiopulmonary bypass is still required. Catheter-based interventions, on the other hand, have expanded rapidly in both application as well as the complexity of procedures and lesions being treated. However, despite the development of sophisticated devices, robotic systems to aid catheter procedures have not been commonly applied in children. In this article, we describe new catheter-like robotic delivery platforms, which facilitate safe navigation and enable complex repairs, such as tissue approximation and fixation, and tissue removal, inside the beating heart. Additional features including the tracking of rapidly moving tissue targets and novel imaging approaches are described, along with a discussion of future prospects for steerable robotic systems. PMID:22413986
Bierhals, Andrew J; Rossini, Sebastian; Woodard, Pamela K; Javidan-Nejad, Cylen; Billadello, Joseph J; Bhalla, Sanjeev; Gutierrez, Fernando R
Advances in surgical and medical treatment for congenital heart disease have resulted in greater life expectancy. As a result, there has been an increase in the utilization of cross-sectional imaging for diagnosis and management of complex congenital heart disease. This manuscript describes a morphological and sequential segmental approach to deciphering the code of complex congenital heart defects in cross-sectional imaging, mostly computed tomography. This manuscript will review approaches to differentiate types of transposition, the anatomic relationships of cardiac structures, and the application of these relationships in the description of complex congenital heart disease.
Full Text Available BACKGROUND: Chronic heart failure is an important cause for morbidity and mortality in adults with congenital heart disease (ACHD. While NT-proBNP is an established biomarker for heart failure of non-congenital origin, its application in ACHD has limitations. The angiogenic factors Angiopoietin-1 and -2 (Ang-1, Ang-2, vascular endothelial growth factor (VEGF, and soluble receptor tyrosine kinase of the Tie family (sTie2 correlate with disease severity in heart failure of non-congenital origin. Their role in ACHD has not been studied. METHODS: In 91 patients Ang-2 and NT-proBNP were measured and related to New York Heart Association class, systemic ventricular function and parameters of cardiopulmonary exercise testing. Ang-1, VEGF, and sTie2 were also measured. RESULTS: Ang-2 correlates with NYHA class and ventricular dysfunction comparable to NT-proBNP. Further, Ang-2 showed a good correlation with parameters of cardiopulmonary exercise testing. Both, Ang-2 and NT-proBNP identified patients with severely limited cardiopulmonary exercise capacity. Additionally, Ang-2 is elevated in patients with a single ventricle physiology in contrast to NT-proBNP. VEGF, Ang-1, and sTie2 were not correlated with any clinical parameter. CONCLUSION: The performance of Ang-2 as a biomarker for heart failure in ACHD is comparable to NT-proBNP. Its significant elevation in patients with single ventricle physiology indicates potential in this patient group and warrants further studies.
Zomer, A Carla; Vaartjes, Ilonca; Uiterwaal, Cuno S P; van der Velde, Enno T; Sieswerda, Gert-Jan T; Wajon, Elly M C; Plomp, Koos; van Bergen, Paul F M; Verheugt, Carianne L; Krivka, Eva; de Vries, Cees J; Lok, Dirk J A; Grobbee, Diederick E; Mulder, Barbara J M
We aimed to evaluate how the presence and severity of congenital heart disease (CHD) influence social life and lifestyle in adult patients. A random sample (n = 1,496) from the CONgenital CORvitia (n = 11,047), the Dutch national registry of adult patients with CHD, completed a questionnaire on educational attainment, employment and marital statuses, and lifestyle (response 76%). The Utrecht Health Project provided a large reference group (n = 6,810) of unaffected subjects. Logistic regression models were used for subgroup analyses and to adjust for age, gender, and socioeconomic status where appropriate. Of all patients 51.5% were men (median age 39 years, interquartile range 29 to 51) with mild (46%), moderate (44%), and severe (10%) CHD. Young (sports participation (adjusted OR 1.2, p lifestyles compared to the reference group. Copyright © 2012 Elsevier Inc. All rights reserved.
Siddiqui, Saira; Wilpers, Abigail; Myers, Michael; Nugent, J David; Fifer, William P; Williams, Ismée A
Exposure to antenatal stressors affects autonomic regulation in fetuses. Whether the presence of congenital heart disease (CHD) alters the developmental trajectory of autonomic regulation is not known. This prospective observational cohort study aimed to further characterize autonomic regulation in fetuses with CHD; specifically hypoplastic left heart syndrome (HLHS), transposition of the great arteries (TGA), and tetralogy of Fallot (TOF). From 11/2010 to 11/2012, 92 fetuses were enrolled: 41 controls and 51 with CHD consisting of 19 with HLHS, 12 with TGA, and 20 with TOF. Maternal abdominal fetal electrocardiogram (ECG) recordings were obtained at 3 gestational ages: 19-27 weeks (F1), 28-33 weeks (F2), and 34-38 weeks (F3). Fetal ECG was analyzed for mean heart rate along with 3 measures of autonomic variability of the fetal heart rate: interquartile range, standard deviation, and root mean square of the standard deviation of the heart rate (RMSSD), a measure of parasympathetic activity. During F1 and F2 periods, HLHS fetuses demonstrated significantly lower mean HR than controls (pHeart rate variability at F3, as measured by standard deviation, interquartile range, and RMSSD was lower in HLHS than controls (p<0.05). Other CHD subgroups showed a similar, though non-significant trend towards lower variability. Autonomic regulation in CHD fetuses differs from controls, with HLHS fetuses most markedly affected. Copyright © 2015 Elsevier Ltd. All rights reserved.
McMillan, M; Porritt, K; Kralik, D; Costi, L; Marshall, H
Pregnant women are considered the most important risk group for influenza vaccination. Despite this, the potential risk of harm from the vaccine on the fetus is a key factor in low uptake of the vaccine. This systematic review aimed to synthesize the best available evidence on the safety of influenza vaccination during pregnancy on fetal development. A search of the literature was undertaken from the inception of each database up to March 2014. Both observational and clinical trials were considered. Fetal outcomes were present in 19 observational studies, and 14 of those were primarily investigating the monovalent influenza A (H1N1) 2009 vaccine. There was significant methodological and clinical heterogeneity of the included studies and a narrative summary and tabling of results was performed. Fetal death outcomes for women in later pregnancy ranged from OR 0.34 to 2.95 with 95% confidence intervals crossing or below the null value. Spontaneous abortion less than 24 weeks ranged from HR 0.45 to OR 1.23, with 95% confidence intervals crossing or below the null value. Congenital malformations for women vaccinated during their first trimester ranged from OR 0.67 to 2.18 and imprecise confidence intervals crossed the null value. Included in this review were some high quality studies, although overall the studies have a high risk of selection and confounding bias. Results do not indicate that maternal influenza vaccination is associated with an increased risk of fetal death, spontaneous abortion, or congenital malformations. Statistical imprecision and clinical and methodological heterogeneity of the observational studies mean it is not possible to totally exclude adverse effects. Further studies investigating women vaccinated during their first trimester should be the highest priority to allow for more precise estimates, especially for spontaneous abortion, and congenital abnormality outcomes. Copyright © 2015 Elsevier Ltd. All rights reserved.
Refaat, Marwan M; Ballout, Jad; Mansour, Moussa
With improved surgical techniques and medical management for patients with congenital heart diseases, more patients are living longer and well into adulthood. This improved survival comes with a price of increased morbidity, mainly secondary to increased risk of tachyarrhythmias. One of the major arrhythmias commonly encountered in this subset of cardiac patients is AF. Similar to the general population, the risk of AF increases with advancing age, and is mainly secondary to the abnormal anatomy, abnormal pressure and volume parameters in the hearts of these patients and to the increased scarring and inflammation seen in the left atrium following multiple surgical procedures. Catheter ablation for AF has been shown to be a very effective treatment modality in patients with refractory AF. However, data and guidelines regarding catheter ablation in patients with congenital heart disease are not well established. This review will shed light on the procedural techniques, success rates and complications of AF catheter ablation in patients with different types of CHD, including atrial septal defects, tetralogy of Fallot, persistent left superior vena cava, heterotaxy syndrome and atrial isomerism, and Ebstein anomaly.
Opić, Petra; Utens, Elisabeth M W J; Cuypers, Judith A A E; Witsenburg, Maarten; van den Bosch, Annemien; van Domburg, Ron; Bogers, Ad J J C; Boersma, Eric; Pelliccia, Antonio; Roos-Hesselink, Jolien W
It is unclear whether sports participation in adults with repaired congenital heart disease is safe and has benefits. Congenital heart disease (ConHD) patients who underwent corrective surgery for Atrial Septal Defect, Ventricular Septal Defect, Pulmonary Stenosis, Tetralogy of Fallot or Transposition of the Great Arteries in our center between 1968 and 1980 were included, and participated in our longitudinal follow-up study with serial evaluations in 2001 and 2011. At both time points patients filled in questionnaires on sports participation, subjective physical functioning and quality of life. Exercise testing, echocardiogram and 24-hour continuous ambulatory ECG-monitoring were performed in both 2001 and 2011. All clinical events (re-intervention, arrhythmia, heart failure) were prospectively recorded. No relationship was found between practicing sports and the occurrence of sudden death, PVCs or SVTs. Patients with moderate/complex forms of ConHD practiced fewer hours of sports compared with the general Dutch normative population. Patients with both simple and moderate/complex ConHD who practiced sports showed a higher exercise capacity. More favorable subjective physical functioning was found for moderate/complex patients who practiced sports. Adults with repaired ConHD are less often involved in sports than the Dutch general population. The patients that were engaged in sports show a higher exercise capacity than those who did not. Sports participation in patients with ConHD was not associated with an increased incidence of adverse cardiac events. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
Tsilimigras, Diamantis I; Oikonomou, Evangelos K; Moris, Demetrios; Schizas, Dimitrios; Economopoulos, Konstantinos P; Mylonas, Konstantinos S
Congenital heart disease (CHD) constitutes the most prevalent and heterogeneous group of congenital anomalies. Although surgery remains the gold standard treatment modality, stem cell therapy has been gaining ground as a complimentary or alternative treatment option in certain types of CHD. The aim of this study was to present the existing published evidence and ongoing research efforts on the implementation of stem cell-based therapeutic strategies in CHD. A systematic review was conducted by searching Medline, ClinicalTrials.gov, and the Cochrane library, along with reference lists of the included studies through April 23, 2017. Nineteen studies were included in this review (8 preclinical, 6 clinical, and 5 ongoing trials). Various routes of cardiac stem cell delivery have been reported, including intracoronary, intramyocardial, intravenous, and epicardial. Depending on their origin and level of differentiation at which they are harvested, stem cells may exhibit different properties. Preclinical studies have mostly focused on modeling right ventricle dysfunction or failure and pulmonary artery hypertension by using pressure or volume overload in vitro or in vivo. Only a limited number of clinical trials on patients with CHD exist, and these primarily focus on hypoplastic left heart syndrome. Cell-based tissue engineering has recently been introduced, and research currently is focusing on developing cell-seeded grafts and patches that could potentially grow in parallel with whole body growth once implanted in the heart. It seems that stem cell delivery to the diseased heart as an adjunct to surgical palliation may provide some benefits over surgery alone in terms of cardiac function, somatic growth, and quality of life. Despite encouraging preliminary results, stem cell therapies for patients with CHD should only be considered in the setting of well-designed clinical trials. More wet laboratory research experience is needed, and translation of promising findings
Bockeria, Leo A; Makhachev, Osman A; Khiriev, Titalav Kh; Podzolkov, Vladimir P; Zelenikin, Mikhail A; Kim, Aleksey I; Zaets, Sergey B
Experience with complete repair of congenital heart defects associated with unilateral absence of a pulmonary artery is limited. The aim of this retrospective study was to present our surgical experience of this complex category of patients, to analyze immediate results of surgical interventions, and to suggest a rational surgical strategy. Of 37 patients with a single pulmonary artery who underwent complete repair of associated heart defects, the left or right pulmonary artery was absent in 32 and 5, respectively. The most frequent heart defects were tetralogy of Fallot (n = 25) and ventricular septal defect (n = 8). The median age of these patients was 7.1 years. Preoperative examinations included echocardiography, cardiac catheterization and angiocardiography, with quantitative assessment of the single pulmonary artery. In-hospital parameters of surgical outcome were analyzed. Recorded hospital mortality was 2.7% (1/37). The single death was in a patient with tetralogy of Fallot, agenesis of the left pulmonary artery, and a small diameter of the contralateral pulmonary artery (Nakata index 174 mm(2)·m(-2)). The right-to-left ventricular systolic pressure ratio after complete tetralogy of Fallot repair in patients who survived the operation was 0.58 ± 0.11. Complete repair of congenital heart defects in patients with unilateral absence of a pulmonary artery is associated with a relatively low risk. If the hilar artery is of adequate size, surgical intervention should attempt restoration of the communication between the disconnected hilar artery and the pulmonary trunk, in addition to repairing the heart defects. © The Author(s) 2014 Reprints and permissions: sagepub.co.uk/journalsPermissions.nav.
Rossier, Marie-Claude; Mivelaz, Yvan; Addor, Marie-Claude; Sekarski, Nicole; Meijboom, Erik Jan; Vial, Yvan
This study evaluated the evolution of the prenatal diagnosis of congenital heart disease (CHD) between 2003 and 2008 and its repercussion for the CHD prevalence rate at birth in a well-defined population (Canton of Vaud, Switzerland). All 572 cases of CHD reported in the Eurocat Registry of Vaud-Switzerland between 1.5.2003 and 31.12.2008 were analysed and compared with the cases in our clinical database. CHD cases were divided into five different groups according to heart disease severity. The prenatal detection rates increased significantly between 2003 and 2008, with a mean detection rate of 25.2%. There was a significantly higher rate of prenatal diagnosis in the first four groups of CHD severity, with the highest detection rate (87.5%) found in the group with the most severe CHD (group 1). In this group, 85.7% of cases resulted in a termination of pregnancy, and there was a consequent 75% reduction in the prevalence of severe major cardiac malformation at birth. Detection rates were 66% in group 2, 68.6% in group 3, and the lowest in groups 4 and 5, with rates of 25.9% and 12.9%, respectively. This study shows that the prenatal detection rate for CHD increased in a well-defined population over the study period. Prenatal diagnosis thus has had a major impact on patients with the most severe types of CHD and has resulted in a significant reduction in severe CHD at birth.
The population of adults with congenital heart disease (ACHD) has grown due to recent advances in surgical procedures. The survival rate to adulthood is now more than 95%. This review identifies current recommendations and status of ACHD management and treatment in the United States by examining comprehensive guidelines for management and transition and comparing them to the current state of the science. Successful transition from pediatric to adult care begins during the adolescent years, and prepares patients for management at an ACHD regional center utilizing multidisciplinary teams of ACHD specialists. Advocacy and research needs for the ACHD population persist. Copyright © 2015 Elsevier Inc. All rights reserved.
Chen, Chi-Wen; Ho, Ciao-Lin; Su, Wen-Jen; Wang, Jou-Kou; Chung, Hung-Tao; Lee, Pi-Chang; Lu, Chun-Wei; Hwang, Be-Tau
To validate the initial psychometric properties of a Healthcare Needs Scale for Youth with Congenital Heart Disease. As the number of patients with congenital heart disease surviving to adulthood increases, the transitional healthcare needs for adolescents and young adults with congenital heart disease require investigation. However, few tools comprehensively identify the healthcare needs of youth with congenital heart disease. A cross-sectional study was employed to examine the psychometric properties of the Healthcare Needs Scale for Youth with Congenital Heart Disease. The sample consisted of 500 patients with congenital heart disease, aged 15-24 years, from paediatric cardiology departments and covered the period from March-August 2015. The patients completed the 25-item Healthcare Needs Scale for Youth with Congenital Heart Disease, the questionnaire on health needs for adolescents and the WHO Quality of Life-BREF. Reliability and construct, concurrent, predictive and known-group validity were examined. The Healthcare Needs Scale for Youth with Congenital Heart Disease includes three dimensions, namely health management, health policy and individual and interpersonal relationships, which consist of 25 items. It demonstrated excellent internal consistency and sound construct, concurrent, predictive and known-group validity. The Healthcare Needs Scale for Youth with Congenital Heart Disease is a psychometrically robust measure of the healthcare needs of youth with congenital heart disease. It has the potential to provide nurses with a means to assess and identify the concerns of youth with congenital heart disease and to help them achieve a successful transition to adult care. © 2017 John Wiley & Sons Ltd.
Loomba, Rohit S; Buelow, Matthew W; Aggarwal, Saurabh; Arora, Rohit R; Kovach, Joshua; Ginde, Salil
An increasing number of patients with congenital heart disease are now surviving into adulthood. This has also led to the emergence of complications from the underlying congenital heart disease, related surgical interventions, and associated combordities. While the prevalence of particular arrhythmias with specific congenital heart disease has been previously described, a detailed analysis of all lesions and a large number of comorbidities has not been previously published. Admissions with congenital heart disease were identified in the National Inpatient Sample. Associated comorbidities were also identified for these patients. Univariate analysis was done to compare those risk factors associated with specific arrhythmias in the setting of congenital heart disease. Next, regression analysis was done to identify what patient characteristics and comorbidities were associated with increased risk of specific arrhythmias. A total of 52,725,227 admissions were included in the analysis. Of these, 109,168 (0.21%) had congenital heart disease. Of those with congenital heart disease, 27,088 (25%) had an arrhythmia at some point. The most common arrhythmia in those with congenital heart disease was atrial fibrillation, which was noted in 86% of those with arrhythmia followed by atrial flutter which was noted in 20% of those with congenital heart disease. The largest burden of arrhythmia was found to be in those with tricuspid atresia with a 51% prevalence of arrhythmia in this group followed by Ebstein anomaly which had an arrhythmia prevalence of 39%. Increasing age, male gender, double outlet right ventricle, atrioventricular septal defect, heart failure, obstructive sleep apnea, transposition of the great arteries, congenitally corrected transposition, and tetralogy of Fallot were frequently noted to be independent risk factors of specific arrhythmias. Approximately, 25% of adult admissions with congenital heart disease are associated with arrhythmia. The burden of
Engelfriet, Peter; Tijssen, Jan; Kaemmerer, Harald; Gatzoulis, Michael A.; Boersma, Eric; Oechslin, Erwin; Thaulow, Erik; Popelová, Jana; Moons, Philip; Meijboom, Folkert; Daliento, Luciano; Hirsch, Rafael; Laforest, Valérie; Thilén, Ulf; Mulder, Barbara
AIMS: To investigate the role of guidelines in structuring the clinical care for adult patients with congenital heart disease (CHD), and to assess adherence to the guidelines in Europe. METHODS AND RESULTS: A selected number of current guidelines were chosen pertaining to operative procedures,
Wijers, Charlotte H. W.; de Blaauw, Ivo; Zwink, Nadine; Draaken, Markus; van der Zanden, Loes F. M.; Brunner, Han G.; Brooks, Alice S.; Hofstra, Robert M.; Sloots, Cornelius E. J.; Broens, Paul M. A.; Wijnen, Marc H.; Ludwig, Michael; Jenetzky, Ekkehart; Reutter, Heiko; Marcelis, Carlo L. M.; Roeleveld, Nel; van Rooij, Iris A. L. M.
Background: Both genetic and nongenetic factors are suggested to be involved in the etiology of congenital anorectal malformations (ARM). Maternal periconceptional use of folic acid supplements were inconsistently suggested to play a role in the prevention of ARM. Therefore, we investigated
A 16-hour-old foal was referred for evaluation of hematuria. A pansystolic heart murmur and left thoracic thrill were detected; laboratory diagnostics and ultrasonography identified a complex congenital heart defect. The diagnosis was confirmed at postmortem. PMID:12001506
Gay, Estelle; Bornallet, Géraldine; Gaucherand, Pascal; Doret, Muriel
To assess if the fetal electrocardiogram especially ST segment is modified by congenital heart diseases: modifications in frequencies of the different ST events and modifications in signal quality. A retrospective case-control study, comparing frequencies of the different ST events and the quality of the signal between fetuses with congenital heart diseases and fetuses without congenital heart disease. From 2000 to 2011, fifty-eight fetuses with congenital heart disease had their heart rate recording using a STAN device during labor. Control group was fetuses who were born just before a case and had a STAN as a second line for intrapartum surveillance. Cases and controls were matched on parity, gestational age at birth, presence of growth restriction and umbilical artery pH. Frequencies of the different ST event and quality of the signal were first analyzed for the global labor recording, and then separately for the first and the second phase of labor. No statistically significant difference in ST event frequencies between fetuses with congenital heart disease and the control group was found. Regarding the quality of the signal, 11.49% (±18.82) of recording time is a signal loss for fetus with congenital heart disease whereas only 5.18% (±10.67) for the control group (p=0.028). This is the first study investigating for intrapartum electrocardiogram modification in fetus with congenital heart disease. Congenital heart diseases do not modify frequencies of ST events. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.
Rodriguez, Fred H; Marelli, Ariane J
The impact of lifelong exposure to myocardial dysfunction in populations with congenital heart disease (CHD) is becoming increasingly recognized. Most children born with CHD now reach adulthood and the long-term sequelae of treatment are contributing to substantial comorbidity. The combination of structural changes present at birth with changes resulting from cardiac surgery can result in heart failure. This article reports on the current state of knowledge on the epidemiology of heart failure in this patient population. Copyright © 2014 Elsevier Inc. All rights reserved.
Avolio, Elisa; Caputo, Massimo; Madeddu, Paolo
This review article reports on the new field of stem cell therapy and tissue engineering and its potential on the management of congenital heart disease. To date, stem cell therapy has mainly focused on treatment of ischemic heart disease and heart failure, with initial indication of safety and mild-to-moderate efficacy. Preclinical studies and initial clinical trials suggest that the approach could be uniquely suited for the correction of congenital defects of the heart. The basic concept is...
Full Text Available BackgroundCongenital heart diseases (CHD are the most common congenital anomaly in children and also the leading cause of mortality from congenital anomalies. Various factors including smoking, drinking alcohol and addiction play role in development of congenital heart diseases. This study was conducted with the aim of investigation of the prevalence of addiction in parents of children with congenital heart disease compared with healthy children.Materials and MethodsThis was a case-control study conducted on 320 children with congenital heart disease aged 6 months to 16 years and 320 healthy children as control group. Children referring to Ali Asghar hospital or who were hospitalized in Imam Ali Hospital were included in the study and their demographic characteristics and their parents were collected. Data were analyzed using SPSS 20.ResultsAverage age of diseased and healthy children was 4.08 ± 4.11 and 3.59 ± 2.36, respectively. The rate of addiction of father, mother and parents of children with congenital heart disease was higher than those of children in control group. The most common congenital heart disease was ventricular septal defect (VSD.ConclusionIn overall, this study showed addiction rate of parents in children with congenital heart disease was higher.
Zeng, Zhandong; Zhang, Hongwei; Liu, Fengli; Zhang, Ning
Congenital heart defects (CHD) affect approximately 7% of infants, and account for 3% of all infant deaths. CHD is most often caused by the defects associated with ductus arteriosus, which is a vessel that usually closes shortly after birth. The types of CHD include tetralogy of fallot, hypoplastic left heart syndrome, pulmonary atresia, total anomalous pulmonary venous return, transposition of great arteries, tricuspid atresia and truncus arteriosus. There are some risk factors that can increase the chance of a fetus developing CHD such as prematurity, an existing CHD in a first-degree relative, genetic syndromes, infections in utero, maternal drug consumptions and disorders. CHD is diagnosed is through different techniques including pulse oximetry, echocardiograms and physical exams. In this review, we examined the current incidence of CHD, the risk factors associated with CHD, the current methods of diagnosis and surgical options used to repair the defects.
da Silva, Viviane Martins; de Oliveira Lopes, Marcos Venícios; de Araujo, Thelma Leite
Factors predictive of growth deficit and nutritional status in children with congenital heart disease remain unclear. The objective of this study was to characterize the growth and nutritional status of children with congenital heart disease based on anthropometric measurements and z scores. One hundred and thirty-five children 1 year or younger, who had not undergone surgical correction, were evaluated. The variables studied were sex; age; type of heart disease; length, weight; z scores (length-for-age, weight-for-age, weight-for-length); abdominal, thoracic, and cephalic circumferences; triceps and subscapular skinfold thickness; and birth weight and birth length. The mean age of children in this study was 4.75 +/- 3.75 months and most (66.7%) were male. Mean anthropometric measurements were birth length, 48.6 +/- 2.34 cm; birth weight, 3.11 +/- 0.63 kg; cephalic circumference, 38.51 +/- 3.28 cm; thoracic circumference, 38.65 +/- 3.76 cm; abdominal circumference, 37.96 +/- 3.27 cm; triceps skinfold thickness, 3.69 +/- 1.57 mm; subscapular skinfold thickness, 3.22 +/- 1.34 mm; current length, 57.54 +/- 7.87 cm; and current weight, 4.46 +/- 1.49 kg. Variables significant for malnutrition in logistic regression models were sex, type of heart disease, birth weight, birth length, subscapular thickness, triceps thickness, and cephalic circumference. Nutritional defects were more evident in the case of the weight-for-age index. Boys had greater deterioration in the weight-for-age index, possibly indicating acute malnutrition, and girls had worse values for the height-for-age index, indicating a risk of chronic malnutrition.
Full Text Available It has been reported that folic acid supplementation before and/or during pregnancy could reduce the risk of congenital heart defects (CHDs. However, the results from limited epidemiologic studies have been inconclusive. We investigated the associations between maternal folic acid supplementation, dietary folate intake, and the risk of CHDs.A birth cohort study was conducted in 2010-2012 at the Gansu Provincial Maternity & Child Care Hospital in Lanzhou, China. After exclusion of stillbirths and multiple births, a total of 94 births were identified with congenital heart defects, and 9,993 births without any birth defects. Unconditional logistic regression was used to estimate the associations.Compared to non-users, folic acid supplement users before pregnancy had a reduced risk of overall CHDs (OR: 0.42, 95% CI: 0.21-0.86, Ptrend = 0.025 after adjusted for potential confounders. A protective effect was observed for certain subtypes of CHDs (OR: 0.37, 95% CI: 0.16-0.85 for malformation of great arteries; 0.26, 0.10-0.68 for malformation of cardiac septa; 0.34, 0.13-0.93 for Atrial septal defect. A similar protective effect was also seen for multiple CHDs (OR: 0.49, 95% CI: 0.26-0.93, Ptrend = 0.004. Compared with the middle quartiles of dietary folate intake, lower dietary folate intake (<149.88 μg/day during pregnancy were associated with increased risk of overall CHDs (OR: 1.63, 95% CI: 1.01-2.62 and patent ductus arteriosus (OR: 1.85, 95% CI: 1.03-3.32. Women who were non-user folic acid supplement and lower dietary folate intake have almost 2-fold increased CHDs risk in their offspring.Our study suggested that folic acid supplementation before pregnancy was associated with a reduced risk of CHDs, lower dietary folate intake during pregnancy was associated with increased risk. The observed associations varied by CHD subtypes. A synergistic effect of dietary folate intake and folic acid supplementation was also observed.
Yanji Qu; Xiaoqing Liu; Jian Zhuang; Guanchun Chen; Jinzhuang Mai; Xiaoling Guo; Yanqiu Ou; Jimei Chen; Wei Gong; Xiangmin Gao; Yong Wu; Zhiqiang Nie
There are 16.5 million newborns in China annually. However, the incidence of congenital heart disease (CHD) has not been evaluated. In 2004, we launched an active province-wide hospital-based CHD registry in the Guangdong Province of southern China. In this study, we examined the incidence of CHD and its subtypes from 2004 to 2012 and compared our findings to the literature. Our results indicate there is an increasing trend of CHD incidence. The increase in incidence occurred mainly for singl...
Olsen, Morten; Hjortdal, Vibeke E.; Mortensen, Laust Hvas
Congenital heart defect patients may experience neurodevelopmental impairment. We investigated their educational attainments from basic schooling to higher education.......Congenital heart defect patients may experience neurodevelopmental impairment. We investigated their educational attainments from basic schooling to higher education....
Mojca Grošelj Grenc
Conclusions: It is critical to start with PGE1 infusion as soon as we clinically suspect ductdependent congenital heart disease. With this approach, morbidity and mortality of newborns with congenital heart disease is significantly reduced.
Van Praagh, R
A summary and brief illustration of the morphologic-anatomic method of diagnosis of congenital heart disease is presented. The principles of scientific neologizing are considered and exemplified. Scientific freedom of speech and expression is commented upon. It is suggested that unnecessary renaming of numerous cardiac anatomic structures and many forms of congenital heart disease be discontinued, and that terminology be de-emphasized.