scholarly journals Down Syndrome and Congenital Heart Disease: Single centre, Prospective Study

2013 ◽  
Vol 2 (2) ◽  
pp. 96-101 ◽  
Author(s):  
Maniah Shrestha ◽  
U Shrestha

Background: The objective of this study was to evaluate the children with down syndrome regarding the frequency and types of congenital heart disease and associated pulmonary hypertension. Method: A prospective study was carried out to all the children with down syndrome visited in pediatric outpatient department over the period of one year. Necessary data were recorded in preformed format. Results: Fifty children with down syndrome were evaluated. Forty (80%) had an associated congenital heart disease. The median age at diagnosis was 2 years (range = 4 days to 12 years). In 26 patients (65%), the cardiac lesion was isolated, while 14 patients (35%) had multiple defects. The most common single defect was ventricular septal defect (VSD), found in 9 of the 40 patients (22.5%), followed by atrioventricular septal defect (AVSD) in 15%, atrial septal defect (ASD) and patent ductus arteriosus (PDA) each in 10%. The most frequent concomitant malformation found co-existing with other congenital cardiac lesions was PDA (15%). Pulmonary hypertension was found in 21 of 40 patients (52.5%) and AVSD was most frequently associated with pulmonary hypertension. Conclusion: Congenital heart disease is very common in patient with down syndrome. VSD is the most common cardiac defect and AVSD is second to VSD. Patient with down syndrome with CHD frequently develop pulmonary hypertension at younger age hence early cardiac screening by echocardiography in these patients is crucial. Early diagnosis and management is the key to avoid irreversible hemodynamic consequences of the defect. Nepal Journal of Medical Sciences | Volume 02 | Number 02 | July-December 2013 | Page 96-101 DOI: http://dx.doi.org/10.3126/njms.v2i2.8944

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.


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


Author(s):  
J. M. Chinawa ◽  
O. C. Duru ◽  
B. F. Chukwu ◽  
A. T. Chinawa

Introduction: Children with Down syndrome are predisposed to having congenital heart defect. Objectives: This study is aimed to describe the clinical correlates, nutritional status and pulmonary hypertension in children with Down syndrome who presented with congenital heart disease. Patients and Methods: A retrospective study of children with Down syndrome who presented with congenital heart disease from 2016 to 2020 was carried out. Nutritional status was assessed with WHO Anthro software while pulmonary hypertension was assessed with standard procedures. Results: Out of 758 echocardiography done over the period of 5 years for children suspected of having cardiac disease, three hundred and eight one had confirmed congenital heart disease of which twenty-eight of them had Down syndrome 7.34% (28/381).  Ten 10/28 (35.7%) of them had pulmonary hypertension. This is commonly noted among infants than older ages. Among 28 children with Down syndrome, twenty-three had complete information for weight and height which was used to assess their nutritional status, 47.8% (11/28) presented with wasting and stunted, 8.7% (2/28) of those with Down syndrome were wasted and 8.7% (2/28) with stunting. Down syndrome is commoner in children with AV canal defect 50% (14/28) followed by PDA 21.4% (6/14). Fast breathing 86.7% (13/15) as the most common symptom followed by cough 64.3% (9/14) Conclusion: Children with Down syndrome who had congenital heart disease are at increased risk of malnutrition and pulmonary hypertension.


2018 ◽  
Vol 58 (6) ◽  
pp. 312-6
Author(s):  
Abdul Muhib Sharifi ◽  
Abdul Rashid Mansoor ◽  
M. Akbar Ibrahimi ◽  
Abdul Wali ◽  
Wali Wali ◽  
...  

Background Congenital heart disease (CHD) is frequently cited as the main cause of death in the pediatric Down syndrome (DS) population. The prevalence and spectrum of CHD patterns in DS varies widely worldwide; this variation could be due to sociodemographic, genetic, and/or geographic factors. Objective To verify the prevalence, pattern, and frequency distribution of CHD in children with Down syndrome. Methods A three-year retrospective study was conducted in children aged 0-14 years with Down syndrome who underwent echocardiography for possible CHD from January 2014 to December 2016, based on the Pediatric Unit CHD Registry of the Cardiac Research Institute, Kabul Medical University. Clinical, echocardiographic, and outcome data were collected and sorted according to confirmation of the syndrome and echocardiography result.  Results During the three-year study period, 420 DS patients were identified, 286 (68%) of whom had CHDs. The prevalence of isolated and multiple CHD in the 420 children with DS were 38% (160 patients) and 30% (126 patients), respectively. Ventricular septal defect (23%) and atrial septal defect (16.4%) were the most common isolated defects. The combination of VSD and ASD (19.9%) were the most frequent multiple CHDs. The most common associations of CHD were VSD + ASD (19.9%) and VSD + PDA (9%).    Conclusion A high prevalence of CHDs was noted in children with Down syndrome. VSD and ASD are the most commonly diagnosed isolated CHDs in our study. ASD + VSD is the most common multiple CHD pairing.  To our knowledge, this is the first extensive study in Afghanistan to demonstrate the pattern and prevalence of CHD associated with Down syndrome.


2015 ◽  
Vol 6 (1) ◽  
pp. 18-20
Author(s):  
Abu Sayed Munsi ◽  
Manzoor Hussain ◽  
Rezoana Rima ◽  
Robi Biswas ◽  
Salahuddin Mahmud ◽  
...  

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


2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Dennis R. Delany ◽  
Stephanie S. Gaydos ◽  
Deborah A. Romeo ◽  
Heather T. Henderson ◽  
Kristi L. Fogg ◽  
...  

AbstractApproximately 50% of newborns with Down syndrome have congenital heart disease. Non-cardiac comorbidities may also be present. Many of the principles and strategies of perioperative evaluation and management for patients with congenital heart disease apply to those with Down syndrome. Nevertheless, careful planning for cardiac surgery is required, evaluating for both cardiac and noncardiac disease, with careful consideration of the risk for pulmonary hypertension. In this manuscript, for children with Down syndrome and hemodynamically significant congenital heart disease, we will summarize the epidemiology of heart defects that warrant intervention. We will review perioperative planning for this unique population, including anesthetic considerations, common postoperative issues, nutritional strategies, and discharge planning. Special considerations for single ventricle palliation and heart transplantation evaluation will also be discussed. Overall, the risk of mortality with cardiac surgery in pediatric patients with Down syndrome is no more than the general population, except for those with functional single ventricle heart defects. Underlying comorbidities may contribute to postoperative complications and increased length of stay. A strong understanding of cardiac and non-cardiac considerations in children with Down syndrome will help clinicians optimize perioperative care and long-term outcomes.


2001 ◽  
Vol 41 (5) ◽  
pp. 237
Author(s):  
Teddy Ontoseno

There were 40 adult congenital heart disease (CHD) patients seen in the Cardiology Division during 1 year (February 1993 - February 1994). The most frequently seen defect was atrial septal defect; however there were also cases with patent ductus arteriosus, pulmonary stenosis, ventricular septal defect, and tetralogy of Fallot. Hemodynamic disorder, serious hindrance to education achievement, and occupational threat due to limited physical capabilities as well as malnutrition are some of prominent issues to be closely anticipated. In general the older the patients the more serious hemodynamic disorder they suffer due CHD. It is worth thinking how to improve the quality of life of CHD patients who succeed to live their adult lives and minimize any possible fatal complication risks.


1970 ◽  
Vol 1 (1) ◽  
pp. 14-20 ◽  
Author(s):  
NN Fatema ◽  
RB Chowdhury ◽  
L Chowdhury

Background: Incidence of congenital heart disease is 8-10/1000 live birth which is established by many studies carried out in many centers worldwide. In Bangladesh no incidence study was carried out so far. Newborn children presenting with various forms of congenital heart disease is a common problem now a days. Neonatologists and paediatricians are now more conscious about early detection and treatment of newborn with congenital heart diseases. Diagnostic facilities are also available in many places. So an individual incidence record from an ideal center of our country is a demand of the time which led carrying out this study. Methods: This prospective study was carried out in Combined Military Hospital (CMH) Dhaka over a period of three years (2004 – 2006). All five thousand six hundred and sixty eight live births weighing more than 500 gm and more than 28 weeks gestational period were subjected to a thorough clinical examination within 72 hours of birth. Those suspected to have any form of congenital heart disease (CHD) were followed up every 4-6 wks for a period of 12 months. Echocardiography with color Doppler was performed in all these newborn including those who reported late but were delivered in obstetrics department of Combined Military Hospital Dhaka. Result: One hundred forty two babies out of 5668 live birth had CHD, ie, 25/1000 live births. Incidence of CHD was higher in pre terms as compared to full term live birth. Some of the patients (18.30%) has other associated somatic anomalies among which Down’s syndrome was commonest (9.15%). Most common congenital heart lesions were Atrial Septal Defect (ASD-26%), Ventricular Septal Defect (VSD-16.9%), Patent Ductus Arteriosus (PDA-18%), Tetralogy of Fallot (TOF-14%), Pulmonary Stenosis (PS-7.75%) etc. Those who were found to have congenital heart disease were managed accordingly. Some patients had spontaneous closure of defects in first year follow up period. Conclusion: The incidence of Congenital Heart Disease (CHD) depends upon various factors like nature of the samples (all live birth or all birth) or on the spot examination by a Paediatric cardiologist. A hospital which has Obstetric, Neonatal and Paediatric cardiology unit can carried out this kind of study successfully. In this study screening of asymptomatic high risk neonates also contributes in early detection of many trivial lesions. Severe lesions were also detected by the paediatric cardiologist who usually expire before being referred from other hospitals and before being diagnosis is established. So a higher incidence rate is recorded in this study. Key words: Congenital heart disease; Echocardiography DOI: http://dx.doi.org/10.3329/cardio.v1i1.8199 Cardiovasc. j. 2008; 1(1) : 14-20  


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.


2018 ◽  
Vol 58 (4) ◽  
pp. 165-9
Author(s):  
Carolina Kurniawan ◽  
Indah Kartika Murni ◽  
Sasmito Nugroho ◽  
Noormanto Noormanto ◽  
Roni Naning

Background Increased pulmonary blood flow may lead to abnormal lung function in children with left-to-right (L to R) shunt congenital heart disease. This condition has been linked to considerable mortality and morbidity, including reduced lung function. Objective To assess for lung function abnormality in children with L to R shunt congenital heart disease. Methods We conducted a cross-sectional study involving children aged 5-18 years and diagnosed with L to R shunt congenital heart disease at Dr. Sardjito Hospital from March to May 2017. Subjects underwent spirometry tests to measure forced expiratory volume-1 (FEV-1), forced vital capacity (FVC), and forced expiratory volume-1 (FEV-1)/forced vital capacity (FVC). Results Of 61 eligible subjects, 30 (49.2%) children had atrial septal defect (ASD), 25 (41%) children had ventricular septal defect (VSD), and 6 (9.8%) children had patent ductus arteriosus (PDA). Spirometry revealed lung function abnormalities in 37 (60.7%) children. Restrictive lung function was documented in 21/37 children, obstructive lung function in 11/37 children, and mixed pattern of lung function abnormality in 5/37 children. Pulmonary hypertension was found in 21 children. There was no significant difference in lung function among children with and without pulmonary hypertension (P=0.072). Conclusion Abnormal lung function is prevalent in 60.7% of children with L to R shunt congenital heart disease, of which restrictive lung function is the most common. There was no significant difference in lung function among children with and without pulmonary hypertension.


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