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1

Williams, C. Scott. "Heart Defect." Annals of Internal Medicine 149, no. 7 (2008): 490. http://dx.doi.org/10.7326/0003-4819-149-7-200810070-00009.

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2

Islam, Md Saiful, and Md Moniruzzaman. "Congenital heart diseases: A review of echocardiogram records." KYAMC Journal 9, no. 1 (2018): 35–38. http://dx.doi.org/10.3329/kyamcj.v9i1.36623.

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Congenital heart defect (CHD) means an anatomic malformation of the heart or great vessels which occurs during intrauterine development, irrespective of the age at presentation. They can disrupt the normal blood flow through the heart. The blood flow can slow down, go in the wrong direction or to the wrong place, or be blocked completely. Broadly congenital heart defects can be acyanotic and cyanotic. We have reviewed retrospectively from echocardiogram record nearly two years of period & collected total 404 patients with congenital heart defects. Among them 329 (81.43%) was acyanotic and 75 (18.57%) was cyanotic congenital defects with variety of diagnosis. Ventricular septal defect was the most common acyanotic heart defect and Tetralogy of Fallot was the most common cyanotic heart defect. There was no significant gender deference.KYAMC Journal Vol. 9, No.-1, April 2018, Page 35-38
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3

Wang, Xike, Haitao Wei, Yue Wu, Ying Tian, and Lei Luo. "Thymidylate synthase gene variation is associated with the risk for conotruncal heart defects in Chinese population." Cardiology in the Young 29, no. 3 (2018): 280–85. http://dx.doi.org/10.1017/s1047951118002184.

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AbstractConotruncal heart defects are considered to be one of the most common types of birth defect worldwide. Genetic disturbances in folate metabolism such as Thymidylate synthase may increase risk for conotruncal heart defects. We evaluated two common Thymidylate synthase polymorphisms, including the 28 bp tandem repeat in the promoter enhancer region of the 5′-untranslated region and the 6 bp deletion in the 3′-untranslated region, as risk factors of conotruncal heart defects including various subtypes of malformations, in a total of 193 mothers with conotruncal heart defect in offspring and 234 healthy controls in the Chinese population. Logistic regression analyses revealed that mothers who were homozygotes with deletion (−/−) had a 1.8-fold (odds ratio: 1.8; 95% confidence interval: 1.0–3.0, p = 0.040) increased risk for conotruncal heart defect in offspring, respectively, when compared with mothers carrying the wild type (+/+) genotype. Consistently, individuals carrying the genotype −/− of the Thymidylate synthase 6 bp deletion also had higher plasma homocysteine levels compared to the mothers carrying the genotype +/+ in the control and conotruncal heart defect groups (p = 0.006 and p = 0.004, respectively). However, our results showed that Thymidylate synthase 28 bp tandem repeat polymorphism was not associated with risk for conotruncal heart defect and plasma homocysteine level. In conclusion, our data suggest that the maternal Thymidylate synthase 6 bp deletion polymorphism might be associated with plasma homocysteine level and risk for conotruncal heart defect in offspring.
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4

IGA, K. "Continuous murmur through atrial septal defect." Heart 83, no. 6 (2000): 613. http://dx.doi.org/10.1136/heart.83.6.613.

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5

Reddy, T. D. "Atrioventricular septal defect with cor triatriatum." Heart 87, no. 3 (2002): 215. http://dx.doi.org/10.1136/heart.87.3.215.

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6

Ahmed, Tofayel Uddin, M. Mafizur Rahman, and ASM Rushul Quddush. "Pattern of Congenital Heart Disease Diagnosed by Echocardiogram in Patients Admitted into a Rural Setup Tertiary Hospital." Community Based Medical Journal 4, no. 2 (2015): 20–25. http://dx.doi.org/10.3329/cbmj.v4i2.53818.

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Congenital heart disease is a defect in the structure of heart and great vessels present at birth. Early recognition will help to treat the child and if possible get corrective surgery done. The aim of this study was to observe the pattern of congenital heart disease in our set-up. This descriptive study based on echocardiographic findings over a period of 3 years from January 2013 to December 2015 conducted in Community Based Medical College Bangladesh, Mymensingh. Patient's consent was obtained from patient's parents before echocardiography. A total of 100 children found to have congenital heart disease determined by echocardiography were studied and analysed for frequencies of lesions, sex ratio and mean age. One hundred patients, comprising 55(55%) male and 45(45%) female had congenital heart disease as diagnosed by echocardiogram had, their age ranged from 0.01 to 15 years with a mean age of 6.4±5.3 years and male to female ratio 1.2:1. Sixty six percent of patients were diagnosed as non-cyanotic heart defects and rest 34% cyanotic heart defects. Atrial septal defect (35%) was the most frequent form of non-cyanotic congenital heart defect, followed by ventricular septal defect (15%), pulmonary stenosis (6%) patent ductus arteriosus (5%), endocardial cushion defect (3%) and coarctation of aorta (2%). Whereas fallot's tetralogy (17%) followed by transposion of great arteries (10%) and ebstein's anomaly (7%) were the commonest cyanotic congenital heart defects. Congenital heart diseases are common in our set-up. Atrial septal defect is the commonest non-cyanotic and Fallot's tetrology as cyanotic congenital heart disease.
 CBMJ 2015 July: Vol. 04 No. 02 P: 20-26
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7

Schwetz, B. A. "Congenital Heart Defect Devices." JAMA: The Journal of the American Medical Association 287, no. 5 (2002): 578—b—578. http://dx.doi.org/10.1001/jama.287.5.578-b.

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8

Schwetz, Bernard A. "Congenital Heart Defect Devices." JAMA 287, no. 5 (2002): 578. http://dx.doi.org/10.1001/jama.287.5.578-jfd20002-3-1.

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9

Bentham, James R., Arjun Gujral, Satish Adwani, Nick Archer, and Neil Wilson. "Does the technique of interventional closure of perimembranous ventricular septal defect reduce the incidence of heart block?" Cardiology in the Young 21, no. 3 (2011): 271–80. http://dx.doi.org/10.1017/s1047951110002039.

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AbstractObjectiveTo describe the difficulties and differing techniques in the transcatheter placement of amplatz ventricular septal defect devices to close perimembranous ventricular septal defects and place these in the context of the expanding literature on ventricular septal defect catheter closure.BackgroundSurgery remains the established first-line therapy for closure of haemodynamically significant perimembranous ventricular septal defects. Transcatheter techniques appeared to promise a possible alternative, obviating the need for cardiac surgery. However, significant technical and anatomical constraints coupled with ongoing reports of a high incidence of heart block have prevented these hopes from being realised to any significant extent. It is likely that there are important methodological reasons for the high complication rates observed. The potential advantages of transcatheter perimembranous ventricular septal defect closure over surgery warrant further exploration of differing transcatheter techniques.MethodsBetween August, 2004 and November, 2009, 21 patients had a perimembranous ventricular septal defect closed with transcatheter techniques. Of these, 14 were closed with a muscular amplatz ventricular septal defect device. The median age and weight at device placement were 8 years, ranging from 2 to 19 years, and 18.6 kilograms, ranging from 10 to 21 kilograms, respectively.ResultsThere were 25 procedures performed on 23 patients using 21 amplatz ventricular septal defect devices. Median defect size on angiography was 7.8 millimetres, ranging from 4 to 14.3 millimetres, with a median device size of 8 millimetres, ranging from 4 to 18 millimetres, and a defect/device ratio of 1.1, with a range from 0.85 to 1.33. Median procedure time was 100 minutes, with a range from 38 to 235 minutes. Adverse events included device embolisation following haemolysis in one, and new aortic incompetence in another, but there were no cases of heart block. Median follow-up was 41.7 months, with a rangefrom 2 to 71 months.ConclusionsEvaluating transcatheter closure of perimembranous ventricular septal defect using amplatz ventricular septal defect devices remains important, if a technically feasible method with low and acceptable complication rates is to be identified. Incidence of heart block may be minimised by avoiding oversized devices, using muscular devices, and accepting defeat if an appropriately selected device pulls through. Given the current transcatheter technologies, the closure of perimembranous ventricular septal defects should generally be performed in children when they weigh at least 10 kilograms.
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10

Begum, Nurun Nahar Fatema, and Jannatul Ferdous. "Criss-cross Heart: A Complex Congenital Heart Disease." Journal of Armed Forces Medical College, Bangladesh 14, no. 2 (2020): 214–16. http://dx.doi.org/10.3329/jafmc.v14i2.45913.

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A criss-cross heart is a rare congenital heart disease that is commonly associated with complex cardiac defect. Criss-cross heart is characterized by crossing of the inflow streams of the two ventricles, due to twisting of the heart during development. As a result the axis of the openings of the atrioventricular (AV) valves remain non parallel. We report a case of 2.5 months old baby with criss-cross spatial relationship of the atrioventricular valve with double outlet right ventricle with Pulmonary Artesia and atrial and ventricular septal defect. The diagnosis was confirmed by 2D and color Doppler Echocardiography in subxiphoid long-axis and coronal plane sweeps. Due to the complex structural changes and rarity of the anomaly, the diagnosis is often missed. In this case report we emphasized on diagnosis feature of presentation and surgical techniques required to correct or palliate the defects.
 Journal of Armed Forces Medical College Bangladesh Vol.14 (2) 2018: 214-216
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11

Kosovtsova, Elena V., Alexandr V. Pozdnyakov, Nikolay G. Pilyugov, Alexey B. Naumov, and Sergey P. Marchenko. "The modern methods of X-Ray based diagnostic in cases of ectopia cordis associated with pentalogy of Cantrell." Pediatrician (St. Petersburg) 8, no. 4 (2017): 92–98. http://dx.doi.org/10.17816/ped8492-98.

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Pentalogy of Cantrell with ectopia cordis is an extremely rare and lethal congenital anomaly included congenital hearth disease (CHD), midline supraumbilical abdominal wall defect, defect of lower sternum part, deficiency of the anterior diaphragm, a defect in the diaphragmatic pericardium. The complexity of this syndrome is usually incompatible with life. Depending on the location of the protruding heart and on the extent of the body wall defect, ectopia cordis may be grouped into cervical, thoracic, thoracoabdominal, or abdominal types. The heart mostly uncovered, covered with a serous membrane less often, and covered with skin rare. Depending on combination defects pentalogy of Cantrell classified for 3 different classes by Toyama (classified in 1972): 1 class – complete syndrome (all five defects), 2 class – probable syndrome (included intracardial defect and ventral abdominal wall defect) 3 class – incomplete syndrome (with various combinations of defects present, including a sternal abnormality). Presented clinical case newborn pentalogy of Cantrell first Toyama class. We used X-Ray for firstly diagnostic, for visualization CHD was performed CT. For postnatal diagnostic CHD are used Echo and CT. CT allows graphically to see the type of CHD and predict a surgical treatment. The strategy of surgical treatment and further prognose are depend on combination of anomalies within the framework of pentalogy of Cantrell. By CT we determined atresia of the pulmonary artery with major aorto-pulmonary collateral arteries (MAPCA), ventricular and atrial septal defects.
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12

Kumar, Rupesh, Subhendu Sekhar Mahapatra, Monalisa Datta, et al. "Holt-Oram Syndrome in Adult Presenting with Heart Failure: A Rare Presentation." Case Reports in Cardiology 2014 (2014): 1–3. http://dx.doi.org/10.1155/2014/130617.

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Holt-Oram syndrome is a rare inherited disorder involving the hands, arms, and the heart. The defects involve carpal bones of the wrist and the thumb and the associated cardiac anomalies like atrial or ventricular septal defects. Congenital cardiac and upper-limb malformations frequently occur together and are classified as heart-hand syndromes. The most common amongst the heart-hand disorders is the Holt-Oram syndrome, which is characterized by septal defects of the heart and preaxial radial ray abnormalities. Its incidence is one in 100,000 live births. Approximately three out of four patients have some cardiac abnormality with common associations being either an atrial septal defect or ventricular septal defect. Herein, we report a rare sporadic case of Holt-Oram syndrome with atrial septal defect with symptoms of heart failure in a forty-five-year-old lady who underwent emergency cardiac surgery for the symptoms.
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13

Ria Nova, Sukman Tulus Putra, Siti Nurmaini, and Radiyati Umi Partan. "Cardiac Septal Defects in Children: Hemodynamics, Clinical Manifestations and Detection." Bioscientia Medicina : Journal of Biomedicine and Translational Research 5, no. 6 (2021): 608–13. http://dx.doi.org/10.32539/bsm.v5i6.393.

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Cardiac septal defect in children is one of the congenital heart defects characterized by atrial septal defects (ASD), ventricular septal defects (VSD) and defects in both atrial and ventricular septum (AVSD). The hemodynamic changes that occur are caused by a left to the right shunt. Differences in location, size of the defect and pulmonary vascular resistance make hemodynamic differences and clinical manifestations between the three types of cardiac septal defects. Detection of cardiac septal defects can be done by clinical examination by listening to the characteristic heart sounds and murmurs for each defect. However, clinical examination alone is often still difficult to determine the type of cardiac septal defect so that several supporting examinations such as photothorax, ECG, echocardiogram and cardiac catheterization need to be done to help establish the diagnosis.
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14

Houyel, Lucile, and Sigolène M. Meilhac. "Heart Development and Congenital Structural Heart Defects." Annual Review of Genomics and Human Genetics 22, no. 1 (2021): 257–84. http://dx.doi.org/10.1146/annurev-genom-083118-015012.

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Congenital heart disease is the most frequent birth defect and the leading cause of death for the fetus and in the first year of life. The wide phenotypic diversity of congenital heart defects requires expert diagnosis and sophisticated repair surgery. Although these defects have been described since the seventeenth century, it was only in 2005 that a consensus international nomenclature was adopted, followed by an international classification in 2017 to help provide better management of patients. Advances in genetic engineering, imaging, and omics analyses have uncovered mechanisms of heart formation and malformation in animal models, but approximately 80% of congenital heart defects have an unknown genetic origin. Here, we summarize current knowledge of congenital structural heart defects, intertwining clinical and fundamental research perspectives, with the aim to foster interdisciplinary collaborations at the cutting edge of each field. We also discuss remaining challenges in better understanding congenital heart defects and providing benefits to patients.
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15

Weling, Rajaram M., and Nilima A. Narkhede. "Hypoplastic right heart syndrome." International Journal of Contemporary Pediatrics 9, no. 3 (2022): 292. http://dx.doi.org/10.18203/2349-3291.ijcp20220458.

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Congenital heart diseases (CHDs) are of two types-acyanotic and cyanotic. Acyanotic heart diseases include atrial septal defect ASD, ventricular septal defect VSD, patent ductus arteriosus PDA, coarctation of aorta and atrioventricular cushion defects. Cyanotic heart disease includes Fallot’s tetralogy, transposition of the great vessels, Total anomalous pulmonary venous return, Tricuspid atresia and single ventricle or hypoplastic left heart or hypoplastic right heart syndrome (HRHS). Hypoplastic right heart is a rarer condition than the hypoplastic left heart. Our patient had a cyanotic heart disease; presented to us with hypoplastic right heart, a very rare association consisting of pulmonary atresia combined with a hypoplastic right ventricle and well-developed pulmonary arteries. Early clinical diagnosis and surgical intervention saved this child.
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16

Lazarev, Sergey Mikhaylovich, and Yelizaveta Yuryevna Lazareva. "Modeling to close of interatrium septum defects of the heart." Pediatrician (St. Petersburg) 6, no. 3 (2015): 29–35. http://dx.doi.org/10.17816/ped6329-35.

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Atrial septal defect (ASD) of the secundum type are the most common lesions. More than half of the century a surgeons are operating second defect of ASD of the heart. But a choice to close this defect have the empirical character. In this work the method of the modeling on computer was used. Were studied biomechanical properties of the interatrial septum in norm and with the defect, fnd the methods to close such defects: to close to the patch, sutured, endovascular close defects use device “Amplatzer septal occlude” (ASO). This models was build with accounting famous the size of the tension for every tissue structure. The models of the tension and motion were to came out. Than the results were compared. This results allowed the authors had to determinate the use of relapse of ASD after close of the defects with patchs, suture, and the device of the “ASO”. Most the tension and the motion appear in the oval pit of the septum were discovered. Was notice that the tension and the motion were decreased with increased the thickness this part of the septum. Therefore the second ASD must be close with the stuffs or devices which equal or greater than thickness the interseptum patch. In this connection the patch from any stuff are not better the method of the operation or the stuff is must be greater 1,5 than the area of the oval pit. When the defect is sutured there is great the tension and motion in the region of the suture. It is the danger of the relapse of the heart defect. When the defect is close the device of “ASO” there is small the tension and motion in the part of contact the device and interatrium septum that exclude the defect relapse.
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17

Hossain, Mohammad Monir, Mohammad Nurul Akhtar Hasan, Mahfuza Shirin, Mohammad Abdullah Al Mamun, and Md Delwar Hossain. "Clinical Significance of Cardiac Murmur in Neonate." Bangladesh Journal of Child Health 34, no. 2 (2012): 56–61. http://dx.doi.org/10.3329/bjch.v34i2.10218.

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Background: There is a popular believe that cardiac murmurs are common in neonate and most are innocent or physiological. However, a cardiac murmur may be the first sign of a serious structural cardiac disease in neonate. Objective: This study was conducted to determine the clinical significance of cardiac murmur as a sole clinical sign in neonate. Methodology: Fifty neonates having cardiac murmur were selected from in-patient department of Dhaka Shishu Hospital from March ’06 to October ’06. Murmurs were clinically classified as innocent or significant murmur. Echocardiography was done for confirmation of the diagnosis and then patients were reclassified as innocent murmur and structural heart defect. And structural heart defects are further subdivided into physiological variant or significant heart defect. Results: Sixty eight percent cases with murmur were found to have structural heart defect and 32% had innocent murmur. Among the cases with structural heart defect 70.6% were found to have significant heart defect and 29.4% were physiological variant. Clinical suspicion able to differentiate innocent murmur or structural heart defect (p <0.05) as well as physiological variant versus significant heart defect (p <0.05). Conclusion: Confident exclusion of heart disease in the newborn period on clinical examination is probably possible by pediatricians or neonatologists. However, for confirmation of diagnosis, early echocardiographic evaluation is necessary. DOI: http://dx.doi.org/10.3329/bjch.v34i2.10218 BJCH2010; 34(2): 56-61
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18

Christensen, Karen E., Yassamin Feroz Zada, Charles V. Rohlicek, et al. "Risk of congenital heart defects is influenced by genetic variation in folate metabolism." Cardiology in the Young 23, no. 1 (2012): 89–98. http://dx.doi.org/10.1017/s1047951112000431.

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AbstractGenetic disturbances in folate metabolism may increase risk for congenital heart defects. We examined the association of heart defects with four polymorphisms in folate-related genes (methylenetetrahydrofolate reductase (MTHFR) c.677C > T, MTHFR c.1298A > C, methionine synthase reductase (MTRR) c.66A > G, and reduced folate carrier (SLC19A1) c.80A > G) in a case–control study of children (156 patients, 69 controls) and mothers of children with heart defects (181 patients, 65 controls), born before folic acid fortification. MTRR c.66A > G in children modified odds ratios for overall heart defects, specifically ventricular septal defect and aortic valve stenosis (p-value below 0.05). The 66GG and AG genotypes were associated with decreased odds ratios for heart defects (0.42, 95% confidence interval (0.18–0.97) and 0.39 (0.18–0.84), respectively). This overall association was driven by decreased risk for ventricular septal defect for 66GG and AG (odds ratio 0.32 (0.11–0.91) and 0.25 (0.09–0.65)) and decreased odds ratio for aortic valve stenosis for 66AG (0.27 (0.09–0.79)). The association of ventricular septal defect and 66AG remained significant after correction for multiple testing (p = 0.0044, multiple testing threshold p = 0.0125). Maternal MTHFR 1298AC genotype was associated with increased odds ratio for aortic valve stenosis (2.90 (1.22–6.86), p = 0.0157), but this association did not meet the higher multiple testing threshold. No association between MTHFR c.677C > T or SLC19A1 c.80A > G and heart defect risk was found. The influence of folate-related polymorphisms may be specific to certain types of heart defects; larger cohorts of mothers and children with distinct sub-classes are required to adequately address risk.
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Pugliese, Michela, Vito Biondi, Rocky La Maestra, and Annamaria Passantino. "Identification and Clinical Significance of Heart Murmurs in Puppies Involved in Puppy Trade." Veterinary Sciences 8, no. 8 (2021): 139. http://dx.doi.org/10.3390/vetsci8080139.

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The detection of a congenital heart defect at purchase is an important step in early detection from a clinical and legal standpoint. Indeed, some cardiac abnormalities may be corrected with surgery, and very often, treatment needs to be performed early before congestive heart failure or irreversible heart damage can occur. From a legal viewpoint, if the defect is revealed in a newly purchased puppy, the buyer may be required to return it and receive compensation. Puppies affected with congenital heart defects are likely to die prematurely, causing emotional suffering to the owner. Furthermore, by considering breed predisposition, early recognition allows breeders to avoid breeding from particular dogs with genetic defects and prevent the continuation of genetic defects in breeding lines. Given gaps in the literature about the recognition of murmurs in the puppy trade, the present article describes how to identify a heart murmur in a puppy during a pre-purchase examination and its significance from a clinical and legal viewpoint. In the canine population, the prevalence of cardiac defects ranges between 0.13 and 1.6%. Pulmonic stenosis is the most common defect found in puppies, followed by patent ductus arteriosus, subaortic stenosis, and ventricular septal defect. On the basis of the above considerations, the veterinarian should recognize and identify the murmur following a protocol for routine examination of puppies involved in trade.
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20

Pathak, Gargi H., Anuya V. Chauhan, and Kesha Nayak. "Cardiac murmur in a neonate: how significant is it?" International Journal of Contemporary Pediatrics 7, no. 12 (2020): 2365. http://dx.doi.org/10.18203/2349-3291.ijcp20205098.

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Background: There is a popular belief that cardiac murmurs are common in neonate and most are innocent or physiological. However, a cardiac murmur may be the first sign of a serious structural cardiac disease in neonate. Objective of study was conducted to determine the clinical significance of cardiac murmur as a sole clinical sign in neonate.Methods: 100 neonates having cardiac murmur were selected from neonatal intensive care unit of department of pediatrics BJMC Ahmedabad from June to November 2019. Murmurs were clinically classified as innocent or significant murmur. Echocardiography was done at UN Mehta institute of cardiology for confirmation of the diagnosis and then patients were reclassified as innocent murmur and structural heart defect. structural heart defects were further subdivided into physiological variant or significant heart defect.Results: Amongst 100 neonates studied, sixty two percent cases with murmur were found to have structural heart defect and 38% had innocent murmur. Among the cases with structural heart defect. 65.3% were found to have significant heart defect and 34.7% were physiological variant. Clinical suspicion was able to differentiate innocent murmur or structural heart defect (p<0.05) as well as physiological variant versus significant heart defect (p<0.05).Conclusions: Confident diagnosis of heart disease in the newborn period on clinical examination is probably possible by pediatricians or neonatologists. However, for confirmation of diagnosis, early echocardiographic evaluation is necessary.
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Yu, Shi Qiang, Zhen Jie Cai, Yun Ge Cheng, et al. "Video-Assisted Thoracoscopic Surgery for Congenital Heart Disease." Asian Cardiovascular and Thoracic Annals 10, no. 3 (2002): 228–30. http://dx.doi.org/10.1177/021849230201000308.

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We report our experience with video-assisted thoracoscopy in the surgical closure of heart septal defects. Nine patients, aged 10 to 26 years, underwent operation for closure of an atrial septal defect; and 3, aged 10 to 22 years, for closure of a ventricular septal defect. Three minithoracotomies with a diameter of 2 to 3 cm were made in the fourth intercostal space of the right parasternum and the fourth and seventh intercostal spaces of the right middle axillary line, respectively. Through the openings and guided by a thoracoscope, a catheter was inserted into the superior vena cava, femorofemoral extracorporeal circulation was built, the aorta was crossclamped, and the myocardium was protected by cold cardioplegia. The right atrium was opened, and the defect was exposed with a traction suture. Primary closure of defects was performed successfully in all patients. The duration of aortic crossclamping and extracorporeal circulation ranged from 11 to 56 minutes and from 50 to 168 minutes, respectively. Postoperatively, cardiac murmur disappeared and echocardiograms showed no residual shunt. Repair of heart septal defects can be completely done with the assistance of video-assisted thoracoscopy, offering a new option with minimal incision.
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22

Sheikh, Naveen, Sajal Krishna Banerjee, Fazlur Rahman, et al. "The Role of Transesophageal Echocardiography in Adolescents and Adults with Congenital Heart Disease." University Heart Journal 11, no. 2 (2017): 63–67. http://dx.doi.org/10.3329/uhj.v11i2.31362.

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There is frequent dropout of atrial septal echoesin the region of the fossa ovalis in the standard precordial echocardiographic imaging planes, that can be minimized by use of the subcostal imaging approach. The diagnostic sensitivity of this approach was reviewed in 154 patients (mean age 31 years, range 18years to 45 yrs) with documented atrial septal defect in whom a satisfactory image of the atrial septum could be obtained.Subcostal two-dimensional and color Doppler echocardiography successfully visualized 93 (89%) of the 105 ostium secundum atrial septal defects, all 32 (100%) ostium Primum defects and 7 (44%) of the 16 sinus vinosus defects. A defect was not visualized (false negative response) in 12 patients (11 %) with an ostium secundum defect and in 9 patients (56%) with a sinus venosus defect. In three of the former and five of the latter, a two-dimensional echocardiographic contrast examination and transesophageal echocardiography established the presence of the inter-atrial shunt. Forty eight patients (32 %) with clinical findings of uncomplicated atrial septal defect confirmed by two-dimensional,color Doppler and Transesophageal echocardiography underwent surgical repair of the defect without preoperative cardiac catheterization. There were no perioperative complications.University Heart Journal Vol. 11, No. 2, July 2015; 63-67
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23

Khoury, Muin J., José F. Cordero, Joseph Mulinare, and John M. Opitz. "Selected Midline Defect Associations: A Population Study." Pediatrics 84, no. 2 (1989): 266–72. http://dx.doi.org/10.1542/peds.84.2.266.

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Using data from the population-based Metropolitan Atlanta Congenital Defects Program, the association of seven relatively common and easily ascertainable groups of midline defects was studied. These defects were neural tube defects (575 patients), oral clefts (633 patients), omphalocele (141 patients), esophageal atresia/tracheoesophageal fistula (88 patients), imperforate anus (151 patients), conotruncal heart defects (289 patients), and diaphragmatic hernia (75 patients). Known syndromes were excluded from the analysis. Of 1743 infants with at least one midline defect, 86 (4.9%) had at least a second midline defect, and 9 (0.5%) had two additional midline defects. Pairwise analysis of the seven defects shows that, although most midline defects tend to be statistically associated with other midline defects, specific combinations of midline defects are seen. For example, neural tube defects are more strongly associated with cleft lip with or without cleft palate than with cleft palate alone; imperforate anus is more strongly associated with spina bifida than with anencephaly or encephalocele. Moreover, some combinations of defects are not observed (eg, neural tube defect and conotruncal heart defect, clefts and diaphragmatic hernia, omphalocele and esophageal atresia/tracheoesophageal fistula). These data point to the need for further refinement in the study of the association of midline defects in terms of embryologic and pathogenetic mechanisms because most midline defects tend to occur as an isolated defect, some midline defects occur with nonmidline defects (such as limb defects), and specific associations among midline defects are observed.
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Bhandari, Purushotam. "Catching congenital heart diseases early : the ten- point approach for Bhutan." Bhutan Health Journal 2, no. 2 (2016): 34–36. http://dx.doi.org/10.47811/bhj.32.

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Congenital heart disease is the most common birth defect and is the main reason for out country referral of pediatric patients from Bhutan. Given the limited resources and expertise, detecting congenital heart defects is often delayed, resulting in delayed initiation of treatment and management of associated complications. Congenital heart diseases, if detected early, can be appropriately treated and complications minimized. A ten-point approach consisting of antenatal diagnosis, neonatal pulse oximetry, well child visits, sick child visits, immunization clinics, school health checkups, pediatric echocardiographers, pediatric cardiologists, basic echocardiography skills in pediatric residents and comprehensive birth defect surveillance is suggested, in order to catch congenital heart defects early in life.
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Thanopoulos, B. D. "Transcatheter closure of perimembranous ventricular septal defects with the Amplatzer asymmetric ventricular septal defect occluder: preliminary experience in children." Heart 89, no. 8 (2003): 918–22. http://dx.doi.org/10.1136/heart.89.8.918.

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26

Lukanikhin, V. A., G. I. Kharitonov, N. G. Shigabutdinova, and B. A. Ostroumov. "Rare combination of aortopulmonary septal defect with other heart defects." Kazan medical journal 82, no. 6 (2001): 457–58. http://dx.doi.org/10.17816/kazmj84430.

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Defects between the ascending aorta and the pulmonary artery are among the rare congenital heart defects (CHD), occurring at a rate of 0.27%. In 10-15% of cases this CHD is combined with patent ductus arteriosus (PDP), coarctation of the aorta. Single cases of its combination with pulmonary artery stenosis have been described in the literature. We present a case of successful correction of aortopulmonary septal defect (ASD) combined with PDP and stenosis of the bicuspid pulmonary valve.
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Laux, Daniela, Valérie Malan, Fanny Bajolle, Younes Boudjemline, Jeanne Amiel, and Damien Bonnet. "FOX gene cluster defects in alveolar capillary dysplasia associated with congenital heart disease." Cardiology in the Young 23, no. 5 (2013): 697–704. http://dx.doi.org/10.1017/s1047951112001904.

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AbstractObjectiveThe objective was to report two new patients with the diagnosis of alveolar capillary dysplasia and congenital heart disease, to describe the associated cardiac defects seen in these cases and in the literature, and to consider recent genetic advances concerning the FOX transcription factor gene cluster in chromosome 16q24.1q24.2.MethodsWe retrospectively analysed the records of all patients with congenital heart disease and alveolar capillary dysplasia seen in the Pediatric Cardiology Department between 2005 and 2010. We reviewed all literature published in the English language relating to cases of alveolar capillary dysplasia and congenital heart disease.ResultsTwo infants with alveolar capillary dysplasia and cardiac malformation were identified: one had an atrioventricular septal defect and a de novo balanced reciprocal translocation t(1;16)(q32;q24), the second infant had a ventricular septal defect. Analysis of 31 cases of the literature including these new cases showed a predominant association of alveolar capillary dysplasia with obstructive left heart disease (35%), as well as an atrioventricular septal defect (29%). FOX gene cluster defects were identified in eight of these patients.DiscussionGenetic background of alveolar capillary dysplasia is discussed in the light of the balanced reciprocal translocation t(1;16)(q32;q24) identified in the first child of this report. Alveolar capillary dysplasia should be suspected in neonates with congenital heart disease and unexpectedly elevated pulmonary vascular resistances, especially in cases of obstructive left heart disease or atrioventricular septal defect. Detecting FOX gene cluster defects should be considered in infants with alveolar capillary dysplasia with or without congenital heart disease.
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Dong, Han-Quan, and Yue-Xin Du. "The study of copy number variations in the regions of PRKAB2 and PPM1K among congenital heart defects patients." Revista da Associação Médica Brasileira 65, no. 6 (2019): 786–90. http://dx.doi.org/10.1590/1806-9282.65.6.786.

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SUMMARY OBJECTIVE: This study was to assess the genetic association of copy number variations in two genes (PRKAB2 and PPM1K) located in two regions (tetralogy of Fallot and ventricular septal defect) in a Chinese Han population. METHODS: A total of 200 congenital heart disease patients (100 tetralogy of Fallot patients and 100 ventricular septal defect patients) and 100 congenital heart defect-free controls were recruited, and quantitative real-time PCR analysis was used to replicate the association of two copy number variations with congenital heart defects in a Chinese Han population. RESULTS: One deletion at PRKAB2 and one duplication at PPM1K were found in two of the tetralogy of Fallot patients, respectively; while all these regions were duplicated in both ventricular septal defect patients and in the 100 congenital heart defects-free controls. CONCLUSIONS: We replicated the copy number variations at the disease-candidate genes of PRKAB2 and PPM1K with tetralogy of Fallot in a Chinese Han population, and in patients with ventricular septal defect mutations in these two genes were not found. These results indicate the same molecular population genetics exist in these two genes with different ethnicity. This shows that these two genes are possibly specific pf tetralogy of Fallot candidates.
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Munsi, Abu Sayed, Manzoor Hussain, Rezoana Rima, Robi Biswas, Salahuddin Mahmud, and Abu Sayeed. "Pattern of congenital heart diseases among clinically diagnosed Down’s syndrome children." Northern International Medical College Journal 6, no. 1 (2015): 18–20. http://dx.doi.org/10.3329/nimcj.v6i1.23154.

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Background : Down’s syndrome (DS) is the commonest genetic cause of malformation with congenital heart defects.Objectives : This study was conducted to evaluate the frequency of various congenital heart defects in children with clinically diagnosed Down’s syndrome in Dhaka Shishu Hospital.Material & Methods : This prospective study was conducted at Pediatric cardiology department of Dhaka Shishu Hospital from 1st February 2013 to 31st January 2014. Admitted Seventy four phenotypically Down’s syndrome patients were included in this study. After taking detailed history and physical examination, all these patients were subjected to Color Doppler echocardiography in addition to routine laboratory investigations.Results : Total 74 down’s Syndrome patients were admitted at cardiology department during the study period. Among them 35 (47.29%) were males and 39 (52.71%)were females with male to female ratio of 1:1.12. Atrioventricular septal defect was the commonest defect 15(20.27%), followed by Ventricular septal defect 12(16.21%), Patent ductus arteriosus 11(14.86%), Atrial septal defect 7(9.46%), Tetralogy of Fallots 3(4.05%), Pentology of Fallots 2(2.70%), Dextrocardia with D _ TGA 1(1.35%), Total anomalous pulmonary venous drainage 1(1.35%) but Multiple congenital heart disease were 22(29.72%) cases. Along with congenital heart disease 3(4.05%) patients had GIT abnormality, 4(5.4%) patient had congenital hypothyroidism and 3(4.05%) patients had Eye problem.Conclusion : Congenital heart defects are common in children with Down’s syndrome. The commonest one is Atrioventricular septal defect in our set-up.Northern International Medical College Journal Vol.6(1) 2014: 18-20
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30

Chaiyakulsil, Chanapai, and Boonchu Sirichongkolthong. "Adams-Stokes attack with delayed heart block after ventricular septal repair." Asian Cardiovascular and Thoracic Annals 27, no. 9 (2019): 760–63. http://dx.doi.org/10.1177/0218492319851380.

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A child with Down syndrome, who had undergone uneventful ventricular septal defect repair one year earlier with a normal heart rate during routine follow-up, presented with recurrent seizure-like episodes that did not respond to antiepileptics. She was subsequently found to have complete heart block with significant bradycardia requiring permanent pacemaker insertion. This late and unusual presentation of complete heart block after ventricular septal defect repair is discussed. Prudence must be applied in the evaluation of children who have undergone surgical correction of congenital heart defects and presented with recurrent seizure-like episodes.
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Chakma, Kowshik, Nawshin Siraj, Nusrat Ghafoor, and SM Shaheedul Islam. "Truncus Arteriosus Type 1: A Case Report." Ibrahim Cardiac Medical Journal 4, no. 2 (2016): 68–71. http://dx.doi.org/10.3329/icmj.v4i2.52994.

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Truncus arteriosus communis (TAC) is a rare heart disorder with the prevalence of approximately 1%, mostly in male newborns with congenital heart defect (CHD). In this disease, aorta and pulmonary artery have not separated during fetal development and both originate jointly from a truncal vessel. In addition, various disorders are reported as associations of mitral and tricuspid valve defects, atrial septal defect (ASD), pulmonary hypertension, increase in heart rate and discharge syndrome.
 Ibrahim Cardiac Med J 2014; 4(2): 68-71
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32

Pop, Lăcrămioara-Eliza, and Angela Butnariu. "When Clinical Judgement of a Heart Murmur is Wrong: A Case Report." Acta Medica Transilvanica 25, no. 3 (2020): 15–17. http://dx.doi.org/10.2478/amtsb-2020-0041.

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AbstractBackground: Infants with congenital heart defects (CHD) are at risk of death if not recognized and treated on time, desirable during intrauterine life or soon after birth. Case: A 6-week old infant presented for the evaluation of an innocent murmur, discovered immediately after birth and recorded by the neonatologist, family physician and pediatrician at follow-up visit. At physical examination, a grade 2/6 systolic murmur and tachycardia were observed. The electrocardiography revealed sinus tachycardia. Transthoracic echocardiography recorded multiple heart defects (three ventricular septal defects, an atrial septal defect, valvular regurgitations, impaired right heart function) and a vascular defect. Treatment consisted of surgical repair. Conclusions: The rarity of the case results from the atypical presentation of the cardiovascular defects only through an innocent heart murmur, therefore criteria requested by guidelines for evaluation through transthoracic echocardiography for the suspicion of a CHD, were not encountered and the diagnosis was delayed.
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33

Mamun-ur-Rashid, Al, Mohammed Zaglul Hai Russeel, and Md Belayet Hossain Akanda. "Congenital Heart Diseases among Children in Selected Hospital." Journal of Clinical and Laboratory Research 5, no. 2 (2022): 01–05. http://dx.doi.org/10.31579/2768-0487/066.

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Background: Congenital heart disease (CHD) is the most common type of birth defect. As CHD accounts for the most frequent cause of lethal malformation among infants, CHD is also considered a major problem affecting public health worldwide. Objective: To assess pattern of congenital heart diseases and associated risk factors among under-14 children admitted in a selected hospital. Methods: It was cross sectional analytical study conducted among purposively selected 111 children admitted in Children Hospital for treatment. Face to face interview was conducted to collect data. The cases were included in the study when the diagnosis of CHD was established by medical records and echocardiography. Results: About 91% and 9% children came from <1 year and 1-5 year age group. Low birth weight and normal birth weight was 52% and 48%. Pre-term and term distribution was 37% and 63%. About half of the respondents were middle class. About 26%, 25% and 18% mothers consumed vitamin A (>10000 IU/d), anti-pyretics and NSAIDs during pregnancy. About 40% mothers consumed contaminated tap water and 29% mothers were exposed to radiation. Ventricular septal defect (40.5%) and atrial septal defect (36.9%) were prominent. Patent ductus arteriosus and pulmonary stenosis were 8.1% and 5.4%. Statistical significant association was found between ventricular septal defect and birth weight, gestational age and monthly family income. As like VSD, atrial septal defect showed statistical significant association with birth weight, monthly family income, maternal age and rubella infection 6 months prior to conception or 1st trimester. Conclusion: Ventricular septal defect (40.5%) and atrial septal defect (36.9%) were common among children. Maternal nutrition during pregnancy should be emphasized due to prevent low birth weight and pre-term baby.
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Wu, Qingyu, Guohua Luo, Shoujun Li, Xiangdong Shen, and Feng Lu. "Comparison of Different Approaches for Pediatric Congenital Heart Diseases." Asian Cardiovascular and Thoracic Annals 11, no. 3 (2003): 226–28. http://dx.doi.org/10.1177/021849230301100310.

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To compare the clinical results of different surgical approaches for congenital heart disease in pediatric patients, 1,669 cases of atrial septal defect, ventricular septal defect, or tetralogy of Fallot, which were corrected from January 1999 to December 2001, were classified according to approach (sternotomy, ministernotomy, or minithoracotomy). In cases of ventricular septal defect, the incidence of pulmonary complications was significantly higher in the minithoracotomy group than in the full sternotomy or ministernotomy groups. In patients with tetralogy of Fallot, hemoglobin concentration was higher, oxygen saturation was lower, and more patients required a transanular patch in the sternotomy group than in the other groups, but the clinical results were similar. Patients with complex defects or severe pulmonary hypertension should undergo a full sternotomy.
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35

HIROOKA, K. "Visualisation of systolic myocardial perfusion defect induced by septal squeezing." Heart 84, no. 5 (2000): 482. http://dx.doi.org/10.1136/heart.84.5.482.

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36

Dhillon, R. "Transcatheter closure of atrial septal defect preserves right ventricular function." Heart 87, no. 5 (2002): 461–65. http://dx.doi.org/10.1136/heart.87.5.461.

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37

Siwik, E. S. "Crossed pulmonary arteries, ventricular septal defect, and chromosome 22q11 deletion." Heart 88, no. 1 (2002): 88. http://dx.doi.org/10.1136/heart.88.1.88.

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38

Yilmaz, M. "Right atrial thrombus following closure of an atrial septal defect." Heart 89, no. 7 (2003): 726. http://dx.doi.org/10.1136/heart.89.7.726.

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39

Quinn, F. R. "Post-infarction ventricular septal defect with aneurysm." Heart 87, no. 6 (2002): 567—a—567. http://dx.doi.org/10.1136/heart.87.6.567-a.

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40

Melo, Isabel Saraiva de, Paula Braz, Rita Roquette, Paulo Sousa, Carla Nunes, and Carlos Dias. "Prevalência de Cardiopatias Congénitas em Portugal em 2015: Dados do Registo Nacional de Anomalias Congénitas." Acta Médica Portuguesa 33, no. 7-8 (2020): 491. http://dx.doi.org/10.20344/amp.12111.

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Introduction: The prevalence at birth of congenital heart disease in Portugal is 8.3/1000 births; undetected critical congenital heart disease may result in adverse outcomes for the fetus/newborn infant. This study describes the reported cases of congenital heart disease in Portugal in 2015 regarding antenatal diagnosis, cardiac defect, and presence of other congenital anomalies/chromosomal abnormalities. These indicators are compared in live births and medical pregnancy terminations. Additionally, postnatal deaths were characterized.Material and Methods: Congenital heart disease data derived from the 2015 Portuguese National Registry of Congenital Birth Defects were analyzed. The prevalence rates per 1000 births were assessed by the chi-square test of independence.Results: The prevalence of congenital heart disease in this study was 5/1000 live-births (339 live-births, 20% with critical defects). The most common defects were ventricular septal defect (38%), atrial septal defect (15%), aortic coarctation (7%), tetralogy of Fallot (7%) and pulmonary stenosis (5%). One third of the live births had antenatal diagnosis of congenital heart disease. In the live-births with critical congenital heart disease, 54% had antenatal diagnosis and 14% were diagnosed at birth. There were records of 84 pregnancy terminations; 49% had critical defects, 75% had non-cardiac congenital anomalies and 40% had chromosomal abnormalities. There were 15 postnatal deaths recorded (3.4% mortality rate), associated with prematurity/low birthweight, critical congenital heart disease, other non-cardiac congenital anomalies and chromosomal abnormalities.Discussion: The data analysis revealed a prevalence of congenital heart disease in this study of 5/1000 births (inferior to other international studies), with a distribution per type of anomaly similar to that reported in previously published work. There were significant regional differences that need further studying.Conclusion: These results are paramount to characterize the Portuguese scenario and improve Healthcare planning. It is important to improve reporting in the Portuguese National Registry of Congenital Birth Defects.
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41

Zikarg, Yossef Teshome, Chalachew Tiruneh Yirdaw, and Teshome Gebremeskel Aragie. "Prevalence of congenital septal defects among congenital heart defect patients in East Africa: A systematic review and meta-analysis." PLOS ONE 16, no. 4 (2021): e0250006. http://dx.doi.org/10.1371/journal.pone.0250006.

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Introduction Congenital heart defects (CHDs) are the most common congenital defects and accounts for nearly one-third of all major congenital anomalies. It is the leading causes of birth defect-associated morbidity, mortality, and medical expenditures. Of all CHD types, ventricular septal defect (VSD) and atrial septal defect (ASD) accounted 51% of cases with an increasing trend over time. Objective The aim of this review is to estimate the pooled prevalence of ventricular septal defect and congenital atrial septal defect among congenital heart diseases patients in East African context. Methods Using PRISMA guideline, we systematically reviewed and meta-analyzed studies that examined the prevalence of Ventricular septal defect and atrial septal defect in East Africa, from Medline (PubMed), Cochrane Library, HINARI, and Google Scholar. A weighted inverse variance random-effects model was used to estimate the pooled prevalence of ventricular septal defect and atrial septal defect. Results A total of 2323 studies were identified; 1301 from PubMed, 12 from Cochrane Library, 1010 from Google Scholar and 22 from other sources. The pooled prevalence of ventricular septal defect and atrial septal defect in East Africa was found to be 29.92% (95% CI; 26.12–33.72; I2 = 89.2%; p<0.001), and 10.36% (95% CI; 8.05–12.68; I2 = 89.5%; p<0.001) respectively. Conclusions and future implications Based on this review, the pooled prevalence of VSD and ASD is still high and alarming; this signifies that the emphasis given for congenital heart defect in East African countries is limited. Special attention and efforts should be applied for early detection to prevent serious complications and for a better prognosis of all forms of CHD. A screening program for CHD should be instituted during the perinatal period. Furthermore, early referral of suspected cases of congenital cardiac anomalies is mandatory for better management till the establishment of cardiac centers in different regions of the continent.
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42

Sonkariya, Satyendr, Deepali Bangalia, Chandradeep Mastan, and Dinesh Kumar Barolia. "Pentalogy of cantrell, type 2- A rare entity." IP Journal of Paediatrics and Nursing Science 5, no. 1 (2022): 29–31. http://dx.doi.org/10.18231/j.ijpns.2022.006.

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Pentalogy of Cantrell is rare congenital disorder which present with ectopic cordis, diaphragmatic defect, pericardial defect, supra umbilical abdominal wall defects and congenital heart defect.: We are reporting here a case of Pentalogy of Cantrell, Type 2 in a female child. Pentalogy of Cantrell, its rarity and unknown etiology is the reason of reporting.
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43

Loomba, Rohit S., Justin T. Tretter, Timothy J. Mohun, Robert H. Anderson, Scott Kramer, and Diane E. Spicer. "Identification and Morphogenesis of Vestibular Atrial Septal Defects." Journal of Cardiovascular Development and Disease 7, no. 3 (2020): 35. http://dx.doi.org/10.3390/jcdd7030035.

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Background: The vestibular atrial septal defect is an interatrial communication located in the antero-inferior portion of the atrial septum. Reflecting either inadequate muscularization of the vestibular spine and mesenchymal cap during development, or excessive apoptosis within the developing antero-inferior septal component, the vestibular defect represents an infrequently recognized true deficiency of the atrial septum. We reviewed necropsy specimens from three separate archives to establish the frequency of such vestibular defects and their associated cardiac findings, providing additional analysis from developing mouse hearts to illustrate their potential morphogenesis. Materials and methods: We analyzed the hearts in the Farouk S. Idriss Cardiac Registry at Ann and Robert H. Lurie Children’s Hospital in Chicago, IL, the Van Mierop Archive at the University of Florida in Gainesville, Florida, and the archive at Johns Hopkins All Children’s Heart Institute in St. Petersburg, Florida, identifying all those exhibiting a vestibular atrial septal defect, along with the associated intracardiac malformations. We then assessed potential mechanisms for the existence of such defects, based on the assessment of 450 datasets of developing mouse hearts prepared using the technique of episcopic microscopy. Results: We analyzed a total of 2100 specimens. Of these, 68 (3%) were found to have a vestibular atrial septal defect. Comparable defects were identified in 10 developing mouse embryos sacrificed at embryonic data 15.5, by which stage the antero-inferior component of the atrial septum is usually normally formed. Conclusion: The vestibular defect is a true septal defect located in the muscular antero-inferior rim of the oval fossa. Our retrospective review of autopsied hearts suggests that the defect may be more common than previously thought. Increased awareness of the location of the defect should optimize its future clinical identification. We suggest that the defect exists because of failure, during embryonic development, of union of the components that bind the leading edge of the primary atrial septum to the atrioventricular junctions, either because of inadequate muscularisation or excessive apoptosis.
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44

Bejiqi, Ramush, Ragip Retkoceri, Arlinda Maloku, Aferdita Mustafa, and Rinor Bejiqi. "Holt–Oram Syndrome Associated with Complex Congenital Heart Disease: A Rare Case Presentation and Literature Review." Open Access Macedonian Journal of Medical Sciences 8, no. C (2020): 36–40. http://dx.doi.org/10.3889/oamjms.2020.4287.

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BACKGROUND: First described by Holt and Oram in 1960 in a four-generation family with atrial septal defects and thumb abnormalities, is an inherited disorder characterized by abnormalities of the upper limbs and heart. This syndrome is characterized by upper extremity malformations involving radial, thenar, or carpal bones. An abnormal carpal bone is present in all affected individuals and may be the only evidence of disease. About 75% of individuals with Holt–Oram syndrome (HOS) have a congenital heart malformation which may include an atrial or ventricular septal defect or heart block. In rare cases, the syndrome can affect other organs and systems which can be life threatening.
 CASE REPORT: Here, we present a newborn with clinical and radiologic features of HOS consisting of bilateral asymmetric hypoplastic thumbs, generalized brachydactyly, limited bilateral supination due to radioulnar synostosis, and associated with complex heart disease and hypoplastic tricuspid valve.
 CONCLUSION: In our case HOS is associated with complex congenital heart defects including atrial septal defect, ventricular septal defect with hypoplastic tricuspid valve. Based on the listed literature we didn’t find any other case where tricuspid valve was affected.
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45

Oreto, Lilia, Giuseppe Mandraffino, Lucia Manuri, et al. "Atrial septal defect morphology and stenting in hypoplastic left heart syndrome after hybrid palliation." Cardiology in the Young 28, no. 2 (2017): 252–60. http://dx.doi.org/10.1017/s1047951117001792.

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AbstractAimsThe aim of this study was to describe atrial septal defect morphology in hypoplastic left heart syndrome, to report the incidence of restrictiveness and its relationship with defect morphology, to correlate restriction with midterm outcome, and to describe our interventional approach to restrictive defect.Methods and resultsFrom 2011 to 2015, 31 neonates with hypoplastic left heart syndrome underwent hybrid procedure with pulmonary artery banding and ductal stenting at our Institution. Restrictive physiology of the atrial septal defect was based on Doppler gradient >6 mmHg through the defect and on clinical signs of pulmonary hypertension. The mean gradient was then measured invasively. Restrictive defect occurred in 11/27 patients (40%). The restrictive group showed three ostium secundum defects (27%) and eight complex morphologies (73%). Conversely, in the non-restrictive group, we observed 11 ostium secundum defects (69%) and five complex morphologies (31%). Early balloon atrioseptostomy was required in three cases. Late restriction occurred in eight patients and was dealt with balloon dilation, stenting, or atrioseptectomy. There was no significant difference between restrictive and non-restrictive groups in terms of early or 12-month survival.ConclusionsComplex morphologies were more frequently related to restrictiveness. Stenting technique has a crucial role, as the procedure carries a significant risk for stent migration. Effective treatment of restrictive atrial septal defect is related to a better outcome, as it leads to equalisation of survival between patients with and those without restrictive atrial septal defect.
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46

Fragoulis, Socrates, Constantinos Contrafouris, Apostolos Thanopoulos, Konstantinos Kyriakoulis, and Sotiria Apostolopoulou. "Reversible right heart failure after redo operation of a post-traumatic Gerbode defect." Perfusion 35, no. 2 (2019): 166–68. http://dx.doi.org/10.1177/0267659119859122.

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Introduction: Gerbode defect is a rare entity and represents a small percent of all congenital defects. If left untreated, right heart failure may occur. Case report: We describe a redo case of a 47-year-old patient complaining about the signs and symptoms of decompensating right heart failure after a surgically treated post-traumatic Gerbode defect 8 years prior. Discussion: Although it is described as a congenital defect, in clinical practice, results mostly as an iatrogenic complication after heart valve surgery, endocarditis, nodal ablation, or post-traumatic defect. Surgical correction is the treatment of choice independently of the provided cause. Dimensions, the position of the defect, are very important factors for the interventional approach. At 12 months post-operatively, the patient remained completely asymptomatic. He has an active life and presents all the echocardiographic metrics within normal values. Conclusion: We strongly recommend that in cardiac areas where high wall tension is applied, durable materials such as Dacron should be used. We also believe that a well-documented discussion with the patient, about his medical condition and his therapeutic alternatives, is imperative.
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Digilio, Maria Cristina, Bruno Marino, Salvatore Giannico, Aldo Giannotti, and Bruno Dallapiccola. "Atrioventricular canal defect and hypoplastic left heart syndrome as discordant congenital heart defects in twins." Teratology 60, no. 4 (1999): 206–8. http://dx.doi.org/10.1002/(sici)1096-9926(199910)60:4<206::aid-tera4>3.0.co;2-a.

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48

Sapitri, Ade Iriani, Siti Nurmaini, Sukemi Sukemi, M. Naufal Rachmatullah, and Annisa Darmawahyuni. "Segmentation atrioventricular septal defect by using convolutional neural networks based on U-NET architecture." IAES International Journal of Artificial Intelligence (IJ-AI) 10, no. 3 (2021): 553. http://dx.doi.org/10.11591/ijai.v10.i3.pp553-562.

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Congenital heart disease often occurs, especially in infants and fetuses. Fetal image is one of the issues that can be related to the segmentation process. The fetal heart is an important indicator in the process of structural segmentation and functional assessment of congenital heart disease. This study is very challenging due to the fetal heart has a relatively unclear structural anatomical appearance, especially in the artifacts in ultrasound images. There are several types of congenital heart disease that often occurs namely in septal defects it consists of the atrial septal defect, ventricular septal defect, and atrioventricular septal defect. The process of identifying the standard of the heart, especially the fetus, can be identified with a 2D ultrasound video in the initial steps to diagnose congenital heart disease. The process of diagnosis of fetal heart standards can be seen from a variety of spaces, i.e., 4 chamber views. In this study, the standard semantic segmentation process of the fetal heart is abnormal and normal in terms of the perspective of 4 chamber views. The validation evaluation results obtained in this study amounted to 99.79% pixel accuracy, mean iou 96.10%, mean accuracy 97.82%, precision 96.41% recall 95.72% and F1 score 96.02%.
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AHMED, W. "Aneurysm of the mid-trabecular ventricular septal defect: a morphological novelty." Heart 85, no. 6 (2001): 619. http://dx.doi.org/10.1136/heart.85.6.619.

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50

Mokina, E., E. Naumenko, D. Kumanyaeva, M. Rakhmatullina, and E. Surgaeva. "Antenatal period and clinical picture analysis of the newborns with interatrial communications." Bulletin of Science and Practice 5, no. 3 (2019): 58–63. http://dx.doi.org/10.33619/2414-2948/40/06.

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The birth of children with congenital heart disease is a serious problem due to the risk of infant mortality. Clinically, the interatrial septum defect belongs to the low manifest defects. The severity of its symptoms depends on the size and location of the defect, as well as, to a greater extent, on the duration of the defect and the development of secondary complications. This situation dictates the need for early diagnosis of this congenital heart disease, dynamic observation, timely treatment, which determines the relevance of this study. In this article, we tried to analyze in detail the characteristics of the course of the antenatal period and the clinical picture of newborns with atrial communication. Summing up our study, it should be noted that the clinical manifestations in interatrial communications in newborns are not specific. In most infants with interatrial communications, systolic noise of varying intensity can be heard, however, this noise is not associated with the presence of interatrial communications, but due to the presence of diagonally located chords in the left ventricle.
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