scholarly journals Pattern of congenital heart diseases among children with Down syndrome attending a tertiary care medical college hospital

2017 ◽  
Vol 4 (4) ◽  
pp. 1357
Author(s):  
Kumar G. V. ◽  
Srinivasa V. ◽  
Ananda kumar T. S.

Background: Down syndrome (DS) is the most common chromosomal abnormality associated with learning difficulties with reported incidence between1/600 -1/1000 live births. DS (trisomy 21) is the most common chromosomal abnormality seen in clinical practice. Most children with DS have trisomy 21, due to chromosomal non-disjunction during meiosis; however, other abnormalities, such as Robertsonian translocation, mosaic, double or triple aneuploidies have been reported. The association between DS and congenital heart disease (CHD) is well established. Congenital heart disease is the most common cause of death among patients with DS and affected children have an increased risk of mortality.Methods: The present descriptive study was conducted on children who had clinical features suggestive of Down syndrome and who were karyotypically proved as Down syndrome.Results: In 100 cases of down syndrome 60 children were males and 40 children were females. 45 children had congenital heart diseases. The frequency of CHD in down syndrome is 45%. Ventricular septal defect was the most common CHD found 40% children with down syndrome.Conclusions: All children with Down’s syndrome should have a cardiac evaluation at birth. Early referral and screening of all babies born with the clinical phenotype of DS should be encouraged due to the high prevalence of congenital heart defects. 

Author(s):  
Majid Firouzi ◽  
Hamidreza Sherkatolabbasieh ◽  
Alireza Nezami ◽  
Shiva Shafizadeh

Background: Congenital heart diseases are the most prevalent congenital abnormalities in the neonates, caused by the environmental and genetic factors and contribute to the leading cause of death. The aim of this study is to evaluate the relationship between neonates with large for gestational age and increased risk of congenital heart diseases among nondiabetic mothers. Methods: In this study, 179 neonates with large for gestational age in Khorramabad were enrolled where heart abnormalities were evaluated using echocardiography. Results: 87 neonates had more than 4000 g of the birth weight with no heart abnormalities and 92 (51%) macrosomic neonates had congenital heart diseases. Statistical analysis revealed that there was a significant relationship between birth weight and increased risk of acquiring congenital heart disease between the two groups. There was no significant relationship between birth weight, maternal age, gender, labor type and blood group between the two groups. The highest incidence of congenital heart anomalies was related to 38% of arterial septal defect (ASD) and 15.2% of ASD and VSD, respectively Conclusion: The most prevalent abnormality was arterial septal ASD. None of these abnormalities were associated with maternal age, birth weight and neonate gender. Future studies for congenital heart disease and neonatal birth weight are therefore, recommended.


2021 ◽  
Vol 11 (3) ◽  
pp. 191-196
Author(s):  
Fahmida Zabeen ◽  
Fauzia Mohsin ◽  
Eva Jesmin ◽  
Sharmin Mahbuba ◽  
M Quamrul Hassan

Background: Down syndrome or trisomy 21 is one of the most common chromosomal disorders with moderate intellectual disability. In addition to mental retardation, this syndrome is associated with different congenital anomalies and characteristic dysmorphic features. Affected individuals are more susceptible to congenital heart disease and digestive anomalies, pulmonary complications, immune and endocrine system disorders. While several international studies have shown association of co-morbidities with trisomy 21, there is insufficient data available in Bangladesh.The present study aimed to evaluate the associated co-morbidities in children with Down syndrome. Methods: A cross-sectional study was conducted among pediatric cases with Down syndrome who attended the endocrine outpatient department (OPD) of BIRDEM General Hospital from June 2006 to December 2016. The cases were diagnosed either by Karyotyping or by characteristic phenotypes.The clinical and laboratory data of the patients were collected from outpatient history records for analysis. Results: There were total 42 children with Down syndrome, with mean age 4.2 years at assessment and female predominance (1.47:1). Thyroid dysfunction was the most common (69%) followed by congenital heart disease (57%). Among the thyroid disorders, acquired hypothyroidism was found in 55% cases, congenital hypothyroidism in 41% cases and only one had hyperthyroidism. Isolated patent ductus arteriosus (PDA) and atrial septal defect (ASD) comprised the commonest single congenital heart disease found in 53% and combined atrioventricular septal defect was the commonest among complex congenital cardiac defect observed in our study. Both thyroid dysfunction and congenital heart disease were found more in female children with Down syndrome than their male counterpart and it was found statistically significant. Fifty percent of our Down syndrome cases were referred from other healthcare centers to address developmental delay. Conclusion: Hypothyroidism and congenital heart disease are frequently associated in Down syndrome children in Bangladesh. This calls for developing awareness among health professionals to diagnose comorbidities at an early stage and to form recommendations for long term follow up. BIRDEM Med J 2021; 11(3): 191-196


2018 ◽  
Vol 2018 ◽  
pp. 1-5
Author(s):  
Diamond Ling ◽  
Jonathan G Dayan

Trisomy 21, or Down syndrome (DS), is a genetic disorder affecting approximately 1 in 500–750 live births. The prevalence of DS has increased over the past two decades, correlating with a rise in the proportion of pregnancies complicated by advanced maternal age. There is also a correlation between advanced maternal age and dizygotic twinning rates. There is an increased risk of at least one twin being affected in dizygotic pregnancies compared to singletons. However, despite this greater relative risk, reports of concordance of DS in both dizygotic twins are very rare. Congenital heart disease (CHD) occurs in roughly 40% of individuals with DS, but there can be considerable phenotypic variation. The most common, atrioventricular septal defect accounts for only 40% of CHD seen in DS. There is also a higher incidence of CHD in twins, but also with a low incidence of concordance. There have been only five reported cases of concordant DS in dizygotic twins with confirmed chromosomal analyses; none of which describe concordant congenital heart disease. Here, we describe an unusual case of dizygotic twins of differing genders concordant for both Down syndrome and congenital heart disease of a strikingly similar presentation.


2014 ◽  
Vol 6 (2) ◽  
pp. 133-142
Author(s):  
ABMA Salam ◽  
AMA Kamali ◽  
KA Hasan ◽  
H Ataul ◽  
M Selim ◽  
...  

Background: Treatment of Congenital Heart Disease (CHD) is either Surgical or Interventional. Medical management is mainly symptomatic / palliative. Although surgery is the main mode of treatment but in the recent past non-surgical Interventional method is replacing it because of its multiple advantages over surgical procedures. Since 2005, we started our journey in National Institute of Cardiovascular Diseases with a PDA device closure. In this article we tried to review the success rate of the interventional procedures in this hospital. Methods: The aim of this retrospective study is to review the short term & Intermediate outcome of the non surgical interventional treatment of congenital heart diseases. We included all the interventional rocedures done in this Institute since 2005 upto December 2013. Results: During this period, we performed total 150 cases of patent ductus arteriosus (PDA) device, 20 cases of PDA Coil closure, 60 cases of atrial septal defect (ASD) device, 90 cases of Balloon Pulmonary Valvuloplasty (BPV), 20 cases of Balloon Aortic Valvuloplasty (BAV), 22 cases of Coarctation Balloon Angioplasty, 35 cases of Mitral Valvuloplasty (PTMC), 15 cases of Balloon Atrial Septostomy. Almost all of our intervention procedures were successful except one case of mortality related to procedure of PDA device closure, 4 device embolization (2 ASD & 2 PDA) and one case of PDA coil with persistent Intravascular hemolysis. All the embolized devices were subsequently retrieved surgically with repair. All other patients of interventional treatment are enjoying new life without any morbidity. Conclusion: Thus, we concluded that interventional methods of suitably selected case of congenital heart disease may be an alternative lucrative safe & effective option of remedy for many of the congenital heart diseases. DOI: http://dx.doi.org/10.3329/cardio.v6i2.18354 Cardiovasc. j. 2014; 6(2): 133-142


2017 ◽  
Vol 12 (4) ◽  
pp. 137-142
Author(s):  
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 & Methods: This is an observational hospital based study carried out in a tertiary care hospital in Eastern Nepal. The duration of this study was from April 2015 to July 2016. The echocardiography reports of all patients clinically suspected of having congenital heart disease were retrieved, and their diagnostic details were extracted. Only patients of day one of life to 14 years of age were included. Congenital heart diseases like bicuspid aortic valve, mitral valve prolapse and various inherited cardiomyopathies were excluded.Results: A total of 330 echocardiograms were performed for clinically suspected congenital heart disease.  The mean age of study population was 22.31±34.08 months with male to female ratio of 1.2:1. 23% of clinically suspected congenital heart disease cases turned out to have normal echocardiography. Acyanotic congenital heart disease was most common (81.5%) followed by cyanotic congenital heart disease (14.2%) and obstructive congenital heart disease (4.3%). Atrial septal defect was found to be the most common form of acyanotic congenital heart disease (52%) which was followed by ventricular septal defect (28.8%) and patent ductus arteriosus (14.8%). Tetralogy of Fallot and double outlet right ventricle were the most common form of cyanotic CHD representing 44.4% of all cyanotic patients. Pulmonary stenosis was the most common obstructive congenital heart disease observed in this study population (63.6%). Rarer entities, like d-transposition of great arteries, congenitally corrected transposition of great arteries, various types of total anomalous pulmonary venous drainage, double inlet left ventricle, interrupted aortic arch, Shone complex, etc. were also observed, however represented only the minority of the study population.Conclusion: The spectrum of congenital heart disease seen in this study very likely and only represents the tip of the iceberg. Public awareness programmes and training of health care personnel needs to be emphasized in order to facilitate its early diagnosis and improve its outcome.


2013 ◽  
Vol 24 (3) ◽  
pp. 388-396 ◽  
Author(s):  
Luciane Alves Rocha ◽  
Edward Araujo Júnior ◽  
Liliam Cristine Rolo ◽  
Fernanda Silveira Bello Barros ◽  
Karina Peres Silva ◽  
...  

AbstractObjectiveCongenital heart diseases are common in foetuses, with an incidence greater than six times that of chromosomal abnormalities; however, experts in cardiac anatomy have evaluated only the foetuses of pregnant women with increased risk for congenital heart disease. Over the years, it has become clear that congenital heart disease occur in foetuses of low-risk women. In the mid-1980s, a proposal to expand the assessment of cardiac anatomy was presented to obstetricians in order to improve prenatal screening. With the aim to systematise and improve the diagnosis of congenital heart disease in foetuses, the International Society of Ultrasound in Obstetrics and Gynecology established an ultrasound heart examination guideline. In this review, we have described the important features of this guideline and discussed the applications of this tool in clinical practice.MethodsWe performed a literature search of the National Library of Medicine for publications released between 2000 and 2012; we used search terms pertinent to congenital heart disease, such as foetal echocardiography, foetal heart and cardiac screening examination.ResultsThe guidelines serve as a standard and help to systematise the screening for congenital heart diseases, but we think that some topics may be added to design the most appropriate screening method. However, we cannot expand the topics to be evaluated in this examination without good training of sonographers who undergo this screening.ConclusionAlthough the screening standardisation is a good tool to be used in day-to-day practice, the increment of aortic and ductal archs and colour Doppler to heart screening could be useful to detect further cardiac defects.


2014 ◽  
Vol 32 (2) ◽  
pp. 159-163 ◽  
Author(s):  
Felipe Alves Mourato ◽  
Lúcia Roberta R. Villachan ◽  
Sandra da Silva Mattos

OBJECTIVE:To determine the frequence and profile of congenital heart defects in Down syndrome patients referred to a pediatric cardiologic center, considering the age of referral, gender, type of heart disease diagnosed by transthoracic echocardiography and its association with pulmonary hypertension at the initial diagnosis.METHODS:Cross-sectional study with retrospective data collection of 138 patients with Down syndrome from a total of 17,873 records. Descriptive analysis of the data was performed, using Epi-Info version 7.RESULTS: Among the 138 patients with Down syndrome, females prevailed (56.1%) and 112 (81.2%) were diagnosed with congenital heart disease. The most common lesion was ostium secundum atrial septal defect, present in 51.8%, followed by atrioventricular septal defect, in 46.4%. Ventricular septal defects were present in 27.7%, while tetralogy of Fallot represented 6.3% of the cases. Other cardiac malformations corresponded to 12.5%. Pulmonary hypertension was associated with 37.5% of the heart diseases. Only 35.5% of the patients were referred before six months of age.CONCLUSIONS: The low percentage of referral until six months of age highlights the need for a better tracking of patients with Down syndrome in the context of congenital heart disease, due to the high frequency and progression of pulmonary hypertension.


2018 ◽  
Vol 26 (7) ◽  
pp. 756-759 ◽  
Author(s):  
Hua Chun ◽  
Yan Yue ◽  
Yibin Wang ◽  
Zhaxi Dawa ◽  
Pu Zhen ◽  
...  

Background Previous small sample studies suggested that elevated altitudes might be associated with the incidence of cardiovascular diseases. However, it remains uncertain whether high altitudes (over 3000 m above sea level) are related to congenital heart disease. We therefore explored the prevalence of congenital heart disease in a large cohort of students in the world's largest prefecture-level city with the highest altitude. Methods This cross-sectional study included 84,302 student participants (boys 52.12%, girls 47.88%, with an average age of 10.62 ± 3.33 years). Data were extracted from the screening results among different altitude area schools in Nagqu from June 2016 to August 2017. Students were first screened by performing a physical examination consisting of cardiac auscultations and clinical manifestation screenings. An echocardiography was performed to confirm and identify the subtype of congenital heart disease. Results The prevalence of congenital heart disease among students in Nagqu, Tibet, was 5.21‰ (439 cases). The most common congenital heart disease type was patent ductus arteriosus, representing 66.3% of congenital heart diseases diagnosed in this study, followed by atrial septal defect and ventricular septal defect, representing 20.3% and 9.1% of congenital heart diseases, respectively. Students living in higher altitudes were significantly more prone to have congenital heart disease than students in locations with lower altitudes. The prevalence of congenital heart disease in girls was found to be higher than that of boys. Conclusions The correlation between congenital heart disease and increased altitude is noteworthy. This study's results are the first big data epidemiological investigation to confirm that high altitude is a significant environmental risk factor for congenital heart disease, especially patent ductus arteriosus. Furthermore, the results provide additional support to make a diagnostic and treatment plan to prevent congenital heart disease in high altitude areas.


2020 ◽  
Vol 32 (02) ◽  
pp. 2050012
Author(s):  
Y. Mahesha ◽  
C. Nagaraju

This paper presents the survey on different techniques which can be used to detect congenital heart disease using palm patterns. The congenital heart disease is one of the heart diseases which starts from birth. Research works are carried out towards detecting congenital heart disease before symptom appears using palm patterns so that it avoids critical health problems in future. Researchers have collected palm prints from normal people who are not suffering from any kind of heart disease and from patients who are suffering from different types of congenital heart diseases. These palm prints are collected from different hospitals. The palm prints are taken using ink and paper method. These palm patterns are analyzed to determine the role of palm pattern while detection of the disease. Few researchers have considered only triradius of palm and most of the researchers have considered palm patterns such as whorl, loop, arch and hypothenar pattern. In case of triradius, researchers have calculated position of axial triradius and it is categorized into three types. In case of whorl, loop and arch, they have considered how often they appear in palm of normal people and patients. Few researchers have analyzed both left and right hands of normal people and patients.


1998 ◽  
Vol 8 (4) ◽  
pp. 491-499 ◽  
Author(s):  
S. Gupta ◽  
R.M. Giuffre ◽  
S. Crawford ◽  
J. Waters

AbstractThis study compared anxiety, fears, depression and behavioural problems as occurring in children with congenital heart disease, comparing them with samples of normal children. It further considered the influence of maternal anxiety, as well as analyzing a subgroup of children with cyanotic forms of congenital heart disease to determine if they were at higher risk than acyanotic children for the problems identified.MethodWe recruited 40 consecutive children with congenital heart disease without obvious psychoso-cial problems from the Cardiology clinic at the Alberta Children‘s Hospital. Of the 40 children, 39 families consented to have the children participate, of which 24 were cyanotic and 15 acyanotic. Children completed the revised versions of the Fear Survey Scale-Revised and the Child Manifest Anxiety Scale as well as the Child Depression Inventory. Mothers completed the Child Behaviour Checklist, and the State Trait Anxiety Scale.ResultsChildren with congenital heart diseases demonstrated more medical fears, and more physiological anxiety, than the normative samples. More specifically, children with cyanotic forms of congenital heart disease demonstrated more fears of the unknown, physiological anxiety, depression, and delinquent behaviors than the acyanotic children with congenital heart disease. Mothers of the children with cyanotic forms of congenital heart disease scored higher on both the state and trait scales, with higher maternal anxiety correlating with higher anxiety, medical fears and behavioral problems in the child.ConclusionIn a clinical setting, children with congenital heart diseases who do not present with psychological adjustment problems are still at risk for covert physiological anxiety, medical fears, depression and behavioral problems. The children with cyanotic malformations represent a subgroup at higher risk for these problems, which may be further exacerbated by increased maternal anxiety.


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