scholarly journals Pattern of congenital heart diseases among clinically diagnosed Down’s syndrome children

2015 ◽  
Vol 6 (1) ◽  
pp. 18-20
Author(s):  
Abu Sayed Munsi ◽  
Manzoor Hussain ◽  
Rezoana Rima ◽  
Robi Biswas ◽  
Salahuddin Mahmud ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Atrioventricular Septal Defect ◽  
Female Ratio ◽  
Cardiology Department

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

scholarly journals Pattern of Congenital Heart Disease Diagnosed by Echocardiogram in Patients Admitted into a Rural Setup Tertiary Hospital

2015 ◽  
Vol 4 (2) ◽  
pp. 20-25
Author(s):  
Tofayel Uddin Ahmed ◽  
M Mafizur Rahman ◽  
ASM Rushul Quddush
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Atrial Septal Defect ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Coarctation Of Aorta ◽  
Female Ratio ◽  
Set Up

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

scholarly journals Prevalence and profile of congenital heart disease and pulmonary hypertension in Down syndrome in a pediatric cardiology service

2014 ◽  
Vol 32 (2) ◽  
pp. 159-163 ◽  
Author(s):  
Felipe Alves Mourato ◽  
Lúcia Roberta R. Villachan ◽  
Sandra da Silva Mattos
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Down Syndrome ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Heart Defects ◽  
Descriptive Analysis ◽  
Atrioventricular Septal Defect

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.

scholarly journals The fitness cost of a congenital heart defect shapes its genetic architecture

2019 ◽  
Author(s):  
Ehiole Akhirome ◽  
Suk D. Regmi ◽  
Rachel A. Magnan ◽  
Nelson Ugwu ◽  
Yidan Qin ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defect ◽  
Genetic Architecture ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Atrioventricular Septal Defect ◽  
Fitness Cost ◽  
Heart Defect

ABSTRACTBackgroundIn newborns, severe congenital heart defects are rarer than mild ones. The reason why is unknown, but presumably related to a liability threshold that rises with the severity of a defect. Because the same genetic mutation can cause different defects, other variables may contribute to pushing an individual past a defect-specific liability threshold. We consider here how variables in the genetic architecture of a heart defect depend upon its fitness cost, as defined by the likelihood of survival to reproductive age in natural history studies.MethodsWe phenotyped ~10,000 Nkx2-5+/- newborn mice, a model of human congenital heart disease, from two inbred strain crosses. Genome-wide association analyses detected loci that modify the risk of an atrial septal defect, membranous or muscular ventricular septal defect, or atrioventricular septal defect. The number of loci, heritability and quantitative effects on risk of pairwise (G×GNkx) and higher-order (G×G×GNkx) epistasis between the loci and Nkx2-5 mutation were examined as a function of the fitness cost of a defect.ResultsNkx2-5+/- mice have pleiotropic heart defects; about 70% have normal hearts. The model recapitulates the epidemiological relationship between the severity and incidence of a heart defect. Neither the number of modifier loci nor heritability depends upon the severity of a defect, but G×GNkx and G×G×GNkx effects on risk do. Interestingly, G×G×GNkx effects are three times more likely to suppress risk when the genotypes at the first two loci are homozygous and from the same, rather than opposite strains in a cross. Syn- and anti-homozygous genotypes at G×G×GNkx interactions can have an especially large impact on the risk of an atrioventricular septal defect.ConclusionsGiven a modestly penetrant mutation, epistasis contributes more to the risk of severe than mild congenital heart defect. Conversely, genetic compatibility between interacting genes, as indicated by the protective effects of syn-homozygosity at G×G×GNkx interactions, plays a newfound role in the robustness of cardiac development. The experimental model offers practical insights into the nature of genetic risk in congenital heart disease. The results more fundamentally address a longstanding question regarding how mutational robustness could arise from natural selection.

Pharmacotherapy of Congenital Heart Defects

2004 ◽  
Vol 9 (3) ◽  
pp. 160-178
Author(s):  
Shannan Eades
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Pediatric Population ◽  
Ductus Arteriosus ◽  
Pharmacological Agents ◽  
Mild Heart Failure ◽  
Cardiovascular Defects

Congenital cardiovascular defects account for significant morbidity and mortality in the pediatric population. Complications of congenital heart disease are lesion-dependent and may range from mild heart failure with no cyanosis to severe cyanosis and shock. Pharmacotherapy of congenital heart disease is also lesion-dependent and usage may range from palliative agents (e.g., prostaglandin E1 for relaxation of aortic stricture) to corrective agents (e.g., indomethacin for closure of the ductus arteriosus). This review will discuss the aberrant pathophysiology and complications associated with specific congenital heart defects, as well as the selection of pharmacological agents used in the management of these defects.

scholarly journals PREVALENCE OF CONGENITAL HEART DISEASE IN UMERKOT

2021 ◽  
Vol 70 (Suppl-4) ◽  
pp. S824-27
Author(s):  
Mohsin Saif ◽  
Abdul Fatah ◽  
Waqas Akhtar ◽  
Farah Javed ◽  
Ali Mujtaba Tahir ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Ventricular Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Cross Sectional ◽  
Male Preponderance

Objective: To study the prevalence and the pattern of distribution of congenital heart disease.Study Design: Descriptive cross-sectional study.Place and Duration of Study: The study was conducted at outpatient department (OPD) of CMH Chhor and DHQ Umerkot, Sindh (Pakistan), from Dec 2019 to Mar 2020.Methodology: All the children (<12 years age) presenting to Paediatric OPD of the two hospitals were enrolled into study. Any patient with either a history or clinical examination pointing towards a suspected congenital heart disease was referred to Paediatric Cardiologist for 2-D echocardiogram. Details of the patient were recorded on designated proforma. Results: A total of 273 patients were diagnosed with congenital heart disease. Out of these, 114 (41.7%) were female and 159 (58.2%) were male (male: female of 1.4:1). The age of the children was ranging from 2 months to 12 years, 153 (56.04%) had simple heart defects, while 120 (43.9%) had complex or multiple congenital heart anomalies. Amongst the 273 patients, 25.3% were cyanotic and 74.7% had acyanotic heart disease. Most common lesion identified was ventricular septal defect (29.6%), followed by Tetralogy of Fallot in 20.8%. Conclusion: Acyanotic heart defects confirms to the major bulk of congenital heart defects with male preponderance.

scholarly journals Spectrum of pediatric heart disease in newly established cardiac center in South Punjab.

2020 ◽  
Vol 27 (11) ◽  
Author(s):  
Ahsan Beg ◽  
Nousheen Fatima ◽  
Abdul Razzaq Mughal
Keyword(s):  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Heart Defects ◽  
Ductus Arteriosus ◽  
Female Ratio ◽  
Acquired Heart Disease ◽  
Pediatric Heart Disease ◽  
Cardiac Center

Objectives: To determine the spectrum of pediatric heart disease in a newly established cardiac centre in south Punjab. Study Design: Descriptive Observational Case Series. Setting: Department of Pediatric Cardiology of Cardiac Center Bahawal Victoria Hospital (BVH) Bahawalpur. Period: July 2019 to December 2019. Material & Methods: All consecutive patients of any gender, age range from first day of life to18 years, diagnosed as having heart disease (congenital/ acquired) on Echocardiography were enrolled. Patients of isolated bicuspid aortic valve, premature neonates having PDA or those who already had device or surgical intervention done were excluded from the study. The spectrum of the heart diseases in children was assessed by categorizing them as having acquired, acyanotic and acyanotic heart defects. Results: A total of 624 patients were enrolled in the study on the basis of inclusion criteria. There were 56.7 % male (n=354) while 43.3% were female (n=270) with male to female ratio 1.3:1. Majority of the patients were of infant age group (66%, n=412). Congenital heart disease (CHD) was present in 87% of the patients (n=543) while 13% (n=81) had acquired heart disease (AHD). Acyanotic heart lesions were found in 73.1% of patients while cyanotic congenital heart diseases (CCHD) were 26.9 %. Ventricular septal defect (VSD) was the most common CHD (33%), followed by Atrial Septal defect (14.9%) and Patent ductus arteriosus (13.1%). TOF was the most common CCHD (10.1%) followed by TGA (7.4%). Among AHD, 55.6% were of Rheumatic heart disease (RHD) followed by Cardiomyopathy (27.2), pericardial effusion (8.6%) and infective endocarditis (4.9%). Conclusion: The VSD, ASD, PDA, TOF and TGA remain the most common CHD in descending order while RHD is the most common acquired heart disease in children at our centre.

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
Keyword(s):  
Congenital Heart Disease ◽  
Pulmonary Hypertension ◽  
Down Syndrome ◽  
Heart Disease ◽  
Prospective Study ◽  
Congenital Heart ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Atrioventricular Septal Defect ◽  
Children With Down Syndrome

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

scholarly journals Personalized Genetic Diagnosis of Congenital Heart Defects in Newborns

2021 ◽  
Vol 11 (6) ◽  
pp. 562
Author(s):  
Olga María Diz ◽  
Rocio Toro ◽  
Sergi Cesar ◽  
Olga Gomez ◽  
Georgia Sarquella-Brugada ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Malformations ◽  
Congenital Heart ◽  
Heart Diseases ◽  
Heart Defects ◽  
Genetic Diagnosis ◽  
Single Nucleotide Variants ◽  
Personalized Approach

Congenital heart disease is a group of pathologies characterized by structural malformations of the heart or great vessels. These alterations occur during the embryonic period and are the most frequently observed severe congenital malformations, the main cause of neonatal mortality due to malformation, and the second most frequent congenital malformations overall after malformations of the central nervous system. The severity of different types of congenital heart disease varies depending on the combination of associated anatomical defects. The causes of these malformations are usually considered multifactorial, but genetic variants play a key role. Currently, use of high-throughput genetic technologies allows identification of pathogenic aneuploidies, deletions/duplications of large segments, as well as rare single nucleotide variants. The high incidence of congenital heart disease as well as the associated complications makes it necessary to establish a diagnosis as early as possible to adopt the most appropriate measures in a personalized approach. In this review, we provide an exhaustive update of the genetic bases of the most frequent congenital heart diseases as well as other syndromes associated with congenital heart defects, and how genetic data can be translated to clinical practice in a personalized approach.

scholarly journals Congenital heart disease in adults and its problems

2001 ◽  
Vol 41 (5) ◽  
pp. 237
Author(s):  
Teddy Ontoseno
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Adult Congenital Heart Disease ◽  
Ductus Arteriosus ◽  
Pulmonary Stenosis ◽  
Adult Congenital ◽  
Education Achievement ◽  
Adult Lives

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.

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