Frequency Of Congenital Heart Defects Research Articles

Frequency of Congenital Heart Defects in Infants and Young Children Based on Echocardiography at a Children’s Hospital in Lahore

Frequency of Congenital Heart Defects in Infants and Young Children Based on Echocardiography at a Children’s Hospital in Lahore

Evaluation of Frequency of Congenital Heart Defects in Children of Age Up To 2 Years on Echocardiography

Evaluation of Frequency of Congenital Heart Defects in Children of Age Up To 2 Years on Echocardiography

Adaptation of the cardiovascular system of infants born by mothers with diabetes mellitus

It is known, that diabetes mellitus has a significant impact on the growth and development of the fetus. Hyperglycemia during pregnancy increases significantly the incidence of congenital malformations, perinatal morbidity and neonatal mortality. Over the past decades has been a steady increase in the prevalence of diabetes mellitus both in the general population and among pregnant women. In this regard, the study of the influence of diabetes mellitus in the mother on the condition of the fetus and newborn is today a relevant problem of obstetric-gynecological, neonatological and pediatric services. Hyperglycemia during pregnancy has the greatest effect on the fetal cardiovascular system. Diabetes mellitus of the mother causes an increase in the frequency of congenital heart defects in the newborn, myocardial hypertrophy, as well as various functional disorders of the cardiovascular system.This review mainly discusses the pathogenetic aspects and molecular mechanisms of the effect of hyperglycemia on the development of the fetal heart, provides an assessment of clinical, echocardiographic and some laboratory changes in the functioning of the cardiovascular system in newborns from mothers with diabetes mellitus, and also systematizes data on the relationship between maternal diabetes and the risks of cardiovascular disease in their children in the long term.

Frequency of Congenital Heart Defects diagnosed by Fetal Echocardiography in Mashhad, Iran

Frequency of Congenital Heart Defects diagnosed by Fetal Echocardiography in Mashhad, Iran

Long-term trends in the prevalence of congenital heart defects in patients with Down syndrome in southern Poland

IntroductionDown syndrome is one of the most common chromosomal abnormalities in humans. Patients have typical dysmorphic features and various congenital malformations. Congenital heart defects were reported as the most common of the latter, occurring in approximately 50% of the cases.The aimWe aimed to analyse the long-term trends in the prevalence of Down syndrome and related heart defects in the population of southern Poland (Krakow region)Material and methodsWe analysed 500 consecutive patients with Down syndrome who were born from 2006 through 2017 and were diagnosed at the Department of Medical Genetics, Jagiellonian University. Next, we compared our results with the data obtained in previous regional studies.ResultsThe prevalence of Down syndrome in the assessed period was 1.65 per 1,000 live births and was similar to the historical prevalence in our region. Cardiac malformations were detected in 57.6% of the patients and the common atrioventricular canal (CAVC) was the most frequent anomaly (35.1%). However, detailed analysis of the frequency of severe heart defects that usually require prompt surgical treatment in the course of infancy revealed that the percentage of CAVC has been significantly lower in recent years (p=0.033).ConclusionsThe prevalence of Down syndrome and the overall frequency of congenital heart defects have not significantly changed in recent years. However, the frequency of CAVC has decreased, which could be related to the technical progress in prenatal detection of this severe anomaly, and to the subsequent elective terminations of affected pregnancies. Further population studies are required to confirm the presence of this trend and elucidate its background.

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

16q24 deletion involving the ANKRD11 gene, ranging from 137 kb to 2 Mb, have been associated with a microdeletion syndrome characterized by variable cognitive impairment, autism spectrum disorder, facial dysmorphisms with dental anomalies, brain abnormalities essentially affecting the corpus callosum and short stature. On the other hand, patients carrying either deletions encompassing solely ANKRD11 or its loss-of-function variants were reported in association with the KBG syndrome, characterized by a very similar phenotype, including mild-to-moderate intellectual disability, short stature and macrodontia of upper incisors, with inter and intrafamilial variability. To assess whether the haploinsufficiency of ANKRD11-flanking genes, such as ZFPM1, CDH15 and ZNF778, contributed to either the severity of the neurological impairment or was associated with other clinical features, we collected 12 new cases with a 16q24.2q24.3 deletion (de novo in 11 cases), ranging from 343 kb to 2.3 Mb. In 11 of them, the deletion involved the ANKRD11 gene, whereas in 1 case only flanking genes upstream to it were deleted. By comparing the clinical and genetic features of our patients with those previously reported, we show that the severity of the neurological phenotype and the frequency of congenital heart defects characterize the deletions that, besides ANKRD11, contain ZFPM1, CDH15 and ZNF778 as well. Moreover, the presence of thrombocytopenia and astigmatism should be taken into account to distinguish between 16q24 microdeletion syndrome and KBG syndrome. The single patient not deleted for ANKRD11, whose phenotype is characterized by milder psychomotor delay, cardiac congenital malformation, thrombocytopenia and astigmatism, confirms all this data.

Congenital heart defects in dogs: A retrospective study of 301 dogs

The aim of the study was to assess the frequency of congenital heart defects in a population of dogs in Poland and to determine which breeds were affected by particular defects. A retrospective study of the medical records of cardiologically examined dogs revealed 301 cases of echocardiographically confirmed congenital heart defects. Dogs with congenital heart defects made up 2.7% of the dogs that underwent a cardiologic examination. The age at diagnosis ranged from 2 weeks to 190 months. Mixed breeds (33 dogs, 11%), Bull Terriers (31, 10%), Boxers (28, 9%), German Shepherds (17, 6%), Yorkshire Terriers (17, 6%), and French Bulldogs (16, 5%) were the most frequently affected breeds. Subaortic stenosis (120 cases, 33.9%), pulmonic stenosis (64, 18.1%), patent ductus arteriosus (59, 16.7%), mitral valve dysplasia (56, 15.8%), ventricular septal defect (24, 6.8%) and tricuspid valve dysplasia (17, 4.8%) were the most frequent congenital heart defects recognized in this study. Isolated congenital heart disease occurred in 258 dogs (86%), while multiple heart defects were noted in 43 dogs (14%). Most (60%) congenital heart defects were recognized in dogs older than 1 year. Early recognition of congenital heart defects is important for better patient care. Collecting information on the frequency of congenital heart defects in particular breeds will be useful in educating breeders and thus in improving the overall health of the breed.

Differences by Altitude in the Frequency of Congenital Heart Defects in Colombia.

More evidence is needed that links the diagnosis of different congenital heart diseases (CHD) identified after birth, with intermediate altitudes above sea level in geographically and ethnically diverse populations. Our aim was to estimate relative frequencies of CHD diagnosis by altitude and gender in the pediatric population of 12 cities in Colombia. This was a cross-sectional study based on the information collected between 2008 and 2013 in Colombia, during annual congenital heart disease (CHD) case detection campaigns in the post-natal period. All children underwent physical examination, pulse-oximetry, and echocardiography. The odds ratio (OR) was used as the summary statistic to assess associations with altitude in the relative frequency of CHD diagnosis. Data from 5900 children who attended the campaigns were evaluated (54.3% male), out of which 3309 (56.1%) were diagnosed with CHD. There were statistically significant differences in the relative distribution of the different CHD by city altitude and gender (p<0.0001). When compared with sea level, altitudes between 1285 and 3000m above sea level were associated with increased Patent Ductus Arteriosus (PDA) (ORmh 1.68, 95% CI 1.34-2.09; p<0.0001) and left ventricular outflow tract obstruction (LVOTO) diagnoses (ORmh 2.06, 95% CI 1.63-2.61; p<0.0001), while the opposite was true for right ventricular outflow tract (RVOTO) diagnosis (OR 0.60; 95% CI 0.49-0.74, p<0.0001). These associations were not modified by gender differences. In a geographically and ethnically diverse population, altitudes between 1285 and 3000m above sea level carried an independent and clinically important excess diagnostic risk of PDA and of LVOTO, when compared to all other CHD.

Increased frequency of congenital heart defects in Menkes disease

ATP7A is a copper-transporting ATPase critical for central and peripheral nervous system function. Mutations in ATP7A cause Menkes disease and occipital horn syndrome (OHS), allelic X-linked recessive conditions that feature vascular abnormalities ascribed to low activity of lysyl oxidase, a copper-dependent enzyme. From a recently created Menkes disease/OHS patient registry, we identified four of 95 patients with major congenital heart defects (4.2%), a proportion exceeding the general population prevalence (≈1%). In conjunction with mouse models of Menkes disease, OHS, and lysyl oxidase deficiency (which feature aortic aneurysms, irregular attachment between vascular endothelium and mesoderm, and other defects of embryological development) our observation suggests an important role of copper metabolism in cardiac development. Congenital heart disease may be an under-appreciated abnormality in Menkes disease, and should be considered in a broad differential diagnosis of cardiac defects found prenatally in male fetuses. Conversely, newborn infants with suspected or confirmed Menkes disease should be evaluated for heart disease by careful clinical examination and echocardiography, if indicated.

Gastrointestinal system malformations in children are associated with congenital heart defects

To determine the frequency of congenital heart defects (CHD) in children with gastrointestinal malformations (GISM) and mortality rates in patients with GISM. Two hundred and forty two consecutive children patients with GISM followed up in Pediatric Surgery Clinics of our hospital were examined for cardiovascular anomaly by the Department of Pediatric Cardiology, and the CHD incidence was investigated by examining the records of the patients retrospectively. Chi-square test was used for the statistical analysis of data. Two hundred and forty two patients with gastrointestinal system malformations were included in the study. Of 242 patients, 135 (55.8%) were male and 107 (44.2%) were female, and their age range was 0-15 years. The most frequent GISM were anorectal malformations (43.2%), atresia involving stomach, ileum or colon (21%) and esophageal atresia/tracheoesophageal fistula (18.3%). Congenital heart defects were observed in 28.5% of the participants. The most frequent defects were as follows; atrial septal defect (31 patients, 44.9%) a, ventricular septal defect (17 patients, 24.6%) and patent ductus arteriosus (5 patients, 7.2%). There was no significant difference (p>0.05) in mortality rate in patients with CHD (16.7%) and without CHD (13.3%) undergoing operations for GISM. We would like to emphasize the importance of the earliest possible cardiological evaluation of all patients with gastrointestinal system malformations.

Mutation analysis of the NSD1 gene in a group of 59 patients with congenital overgrowth

Sotos syndrome is characterized by pre- and post-natal overgrowth, typical craniofacial features, advanced bone age, and developmental delay. Some degree of phenotypic overlap exists with other overgrowth syndromes, in particular with Weaver syndrome. Sotos syndrome is caused by haploinsufficiency of the NSD1 (nuclear receptor SET domain containing gene 1) gene. Microdeletions involving the gene are the major cause of the syndrome in Japanese patients, whereas intragenic mutations are more frequent in non-Japanese patients. NSD1 aberrations have also been described in some patients diagnosed as Weaver syndrome. Some authors have suggested a certain degree of genotype-phenotype correlation, with a milder degree of overgrowth, a more severe mental retardation, and a higher frequency of congenital anomalies in microdeleted patients. Data on larger series are needed to confirm this suggestion. We report here on microdeletion and mutation analysis of NSD1 in 59 patients with congenital overgrowth. Fourteen novel mutations, two previously described and one microdeletion were identified. All patients with a NSD1 mutation had been clinically classified as "classical Sotos," although their phenotype analysis demonstrated that some major criteria, such as overgrowth and macrocephaly, could be absent. All patients with confirmed mutations shared the typical Sotos facial gestalt. A high frequency of congenital heart defects was present in patients with intragenic mutations, supporting the relevance of the NSD1 gene in the pathogenesis of this particular defect.

Congenital Heart Defects in Malformation Syndromes

This article presents a comprehensive review of the type and frequency of congenital heart defects found in malformation syndromes which have been categorized by etiology. Certain cardiac phenotypes can be as helpful in identifying certain syndromes as can be seen with the more familiar facial, body, and behavioral phenotypes. An awareness of syndromes with a higher risk of congenital heart defect, and knowledge concerning heart defects which are distinctive for certain syndromes, focuses prenatal diagnosis efforts and fetal echocardiography. By using a mechanistic classification in which congenital heart defects are regarded as families of related defects rather than individual lesions, patterns can be recognized among different syndromes.

Frequency of congenital heart defects in patients with hemophilia

Most structural congenital heart defects (CHD) are thought to be multifactorially determined, but the precise causal factors usually are unknown. One may postulate that vascular events, such as hemorrhage in the developing embryo, could influence morphogenesis of the heart. One method of studying this hypothesis is to determine the frequency of CHD in persons with heritable bleeding diatheses and their families. We reviewed retrospectively medical and family histories of 120 hemophilia A and 14 hemophilia B patients seen in our Genetics Department. The family histories included 1,126 maternal relatives of hemophiliac patients. We also reviewed the family histories of 138 patients with X-linked disorders who did not have bleeding diatheses or syndromes associated with CHD; these histories included 960 maternal relatives. There was one confirmed case of a CHD in 134 hemophilia patients, giving a frequency of 0.75% compared to 0.8% in the general population at birth. There was no apparent difference in the frequency of CHD in hemophilia A and B patients compared to the general population or in the relatives of hemophilia patients as compared to control individuals.

Severity and recurrence risk of congenital heart defects exemplified by atrial septal defect secundum.

It has been reported that the frequency of congenital heart defects (CHD) in children of an affected parent is now three to five times what it was 20 years ago. One conceivable cause of this is that patients with CHD of a severity that would have precluded parenthood before the advent of treatment are now able to (and consequently do) have children once the defect has been corrected. The mean severity of CHD among parents who have it would have thereby increased and this might, in turn, have increased the frequency of CHD in their children. But the latter would occur only if severely affected parents confer a greater risk on their children than parents who are mildly affected. To determine whether this is the case, we investigated 83 probands, each of whom had had an atrial septal defect secundum whose dimensions had been recorded at the time of operation. Of their 166 children, 17 had CHD. The defects of probands with affected children were not found to be significantly different in size from the defects in probands whose children were all normal. Analysis of the hemodynamic data available yielded a similar result. Our findings decisively exclude surgical correction as a significant explanation for the increased recurrence of atrial septal defect.