scholarly journals Down syndrome: Prevalence and distribution of congenital heart disease in Brazil

2015 ◽  
Vol 133 (6) ◽  
pp. 521-524 ◽  
Author(s):  
Beatriz Elizabeth Bagatin Veleda Bermudez ◽  
Sandra Lira Medeiros ◽  
Mariane Bagatin Bermudez ◽  
Iolanda Maria Novadzki ◽  
Neiva Isabel Rodrigues Magdalena
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Ventricular Septal Defect ◽  
Atrial Septal Defect ◽  
Outpatient Clinic ◽  
Congenital Heart ◽  
Septal Defect ◽  
Genetic Disorder ◽  
High Prevalence

ABSTRACT CONTEXT AND OBJECTIVE: Down syndrome is the most common genetic disorder, affecting 1/700 live births. Among the clinical findings, one constant concern is the high prevalence of congenital heart disease. The objective of this study was to determine the prevalence and profile of congenital heart disease among patients attended at a Down syndrome outpatient clinic in southern Brazil between 2005 and 2013. DESIGN AND SETTING : Cross-sectional study conducted in a referral center. METHODS : Data were retrospectively gathered from the medical files of 1,207 patients with Down syndrome, among whom 604 (50.0%) had been diagnosed with congenital heart disease. These data were subjected to descriptive analysis using the Statistica software. RESULTS : Among the 604 patients with congenital heart disease, 338 (55.8%) were male and 269 (44.5%) were female. The most common heart diseases were atrial septal defect in 254 patients (42.1%); total atrioventricular septal defect in 91 (15.1%); atrial septal defect and ventricular septal defect in 88 (14.6%); ventricular septal defect in 77 (12.7%); patent ductus arteriosus in 40 (6.6%); patent foramen ovale in 34 (5.6%) patients; tetralogy of Fallot in 12 (2%); and other diseases in 8 (1.3%). Pulmonary hypertension was present in 57 (9.4%). Out of the total, 150 patients (24.8%) underwent cardiac surgery. CONCLUSION : The high prevalence of congenital heart disease among the patients at the Down syndrome outpatient clinic (50%) was similar to findings from other studies and justifies investigation during the neonatal period, so as to decrease mortality and morbidity.

scholarly journals An Unusual Atrial Septal Defect Producing Symptoms in a Young Lady

2020 ◽  
Vol 5 (02) ◽  
Author(s):  
Md. Mashiul Alam ◽  
Md. Al-Amin
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Atrial Septal Defect ◽  
Congenital Heart ◽  
Septal Defect ◽  
Adult Population ◽  
Young Lady ◽  
Number Of Patients

Atrial septal defect is the most common congenital heart disease among adult population. Secundum variety of atrial septal defect comprises most frequently encountered atrial septal anomaly which presents during late age. Primum atrial septal defect usually associated with atrio-ventricular cushion defect among patients with Down syndrome. Small number of patients may present with fenestrated atrial septal defect. We have presented case of a woman who is young and symptomatic due to atrial septal defect comprising both secundum and primum type.

scholarly journals Time Trends in Simple Congenital Heart Disease Over 39 Years: A Danish Nationwide Study

2021 ◽  
Author(s):  
Mohamad El‐Chouli ◽  
Grímur Høgnason Mohr ◽  
Casper N. Bang ◽  
Morten Malmborg ◽  
Ole Ahlehoff ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Ventricular Septal Defect ◽  
Patent Ductus Arteriosus ◽  
Atrial Septal Defect ◽  
Congenital Heart ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Pulmonary Stenosis ◽  
Patent Ductus

Background We describe calendar time trends of patients with simple congenital heart disease. Methods and Results Using the nationwide Danish registries, we identified individuals diagnosed with isolated ventricular septal defect, atrial septal defect, patent ductus arteriosus, or pulmonary stenosis during 1977 to 2015, who were alive at 5 years of age. We reported incidence per 1 000 000 person‐years with 95% CIs, 1‐year invasive cardiac procedure probability and age at time of diagnosis stratified by diagnosis age (children ≤18 years, adults >18 years), and 1‐year all‐cause mortality stratified by diagnosis age groups (5–30, 30–60, 60+ years). We identified 15 900 individuals with simple congenital heart disease (ventricular septal defect, 35.2%; atrial septal defect, 35.0%; patent ductus arteriosus, 25.2%; pulmonary stenosis, 4.6%), of which 75.7% were children. From 1977 to 1986 and 2007 to 2015, the incidence rates increased for atrial septal defect in adults (8.8 [95% CI, 7.1–10.5] to 31.8 [95% CI, 29.2–34.5]) and in children (26.6 [95% CI, 20.9–32.3] to 150.8 [95% CI, 126.5–175.0]). An increase was only observed in children for ventricular septal defect (72.1 [95% CI, 60.3–83.9] to 115.4 [95% CI, 109.1–121.6]), patent ductus arteriosus (49.2 [95% CI, 39.8–58.5] to 102.2 [95% CI, 86.7–117.6]) and pulmonary stenosis (5.7 [95% CI, 3.0–8.3] to 21.5 [95% CI, 17.2–25.7]) while the incidence rates remained unchanged for adults. From 1977–1986 to 2007–2015, 1‐year mortality decreased for all age groups (>60 years, 30.1%–9.6%; 30–60 years, 9.5%–1.0%; 5–30 years, 1.9%–0.0%), and 1‐year procedure probability decreased for children (13.8%–6.6%) but increased for adults (13.3%–29.6%) were observed. Conclusions Increasing incidence and treatment and decreasing mortality among individuals with simple congenital heart disease point toward an aging and growing population. Broader screening methods for asymptomatic congenital heart disease are needed to initiate timely treatment and follow‐up.

scholarly journals Congenital heart disease in children with Down syndrome in Afghanistan

2018 ◽  
Vol 58 (6) ◽  
pp. 312-6
Author(s):  
Abdul Muhib Sharifi ◽  
Abdul Rashid Mansoor ◽  
M. Akbar Ibrahimi ◽  
Abdul Wali ◽  
Wali Wali ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Outcome Data ◽  
Extensive Study ◽  
Children With Down Syndrome ◽  
High Prevalence ◽  
Medical University

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.

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 Stenting of modified Blalock–Taussig shunt in adult with palliated pulmonary atresia and ventricular septal defect: a case report

2019 ◽  
Vol 3 (4) ◽  
pp. 1-4
Author(s):  
Julia Illner ◽  
Holger Reinecke ◽  
Helmut Baumgartner ◽  
Gerrit Kaleschke
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Ventricular Septal Defect ◽  
Pulmonary Artery ◽  
Congenital Heart ◽  
Septal Defect ◽  
Pulmonary Atresia ◽  
Complex Congenital Heart Disease ◽  
Bare Metal

Abstract Background Adults with complex congenital heart disease palliated with systemic-to-pulmonary artery shunts have become rare and represent a particularly challenging patient group for the cardiologist. One of the complications and causes of severe clinical deterioration during long-term follow-up are progressive obstruction or total occlusion of the shunt. The risk for surgical intervention is frequently high and catheter intervention may be complicated by complex anatomy and shunt calcification. Case summary We report the case of a 47-year-old man with uncorrected (palliated) pulmonary atresia and ventricular septal defect who presented with progressive cyanosis (oxygen saturation 69%) and decreasing exercise capacity. Computed tomography revealed a totally occluded modified left Blalock–Taussig (BT) shunt and a severely stenosed central shunt (Waterston–Cooley) in a patient with confluent but hypoplastic pulmonary arteries and multiple major aortic pulmonary collaterals. Due to a high operative risk, an interventional, percutaneous approach was preferred to re-do surgery. From a radial access the calcified BT shunt could be crossed with a hydrophilic guidewire. Then, a rotational thrombectomy, balloon dilatation, and bare-metal stenting at the proximal and distal anastomoses were performed. Post-interventionally, peripheral oxygen saturation increased from 69% to 82%. Clopidogrel was administered for 1 month after bare-metal stenting. At 1-year follow-up, the BT shunt was still patent on echocardiography and exercise tolerance markedly improved. Discussion This case highlights the benefit of percutaneous rotational thrombectomy followed by stenting of chronically occluded systemic-to-pulmonary artery shunts for further palliation in adult patients with complex congenital heart disease not suitable for surgical repair.

Atrial septal defects (ASDs)

2011 ◽  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Atrial Septal Defect ◽  
Coronary Sinus ◽  
Patent Foramen Ovale ◽  
Congenital Heart ◽  
Septal Defect ◽  
Foramen Ovale ◽  
Septal Defects ◽  
Different Types

Introduction 94Ostium secundum ASD 96Ostium primum ASD 100Sinus venosus ASD 100Coronary sinus defect 102Patent foramen ovale 104Interatrial communications account for ~10% of congenital heart disease. Different types of atrial septal defect (ASD) are illustrated in Fig. 8.1.•...

scholarly journals Penanganan Perioperatif Pasien Penyakit Jantung Kongenital Dewasa dengan ASD, Suspek Hipertensi Pulmonal, LV Smallish

2017 ◽  
Vol 9 (2) ◽  
pp. 71
Author(s):  
Wisnhu Wardhana ◽  
Cindy Elfira Boom
Keyword(s):  
Intensive Care Unit ◽  
Congenital Heart Disease ◽  
Intensive Care ◽  
Heart Disease ◽  
Atrial Septal Defect ◽  
Patent Foramen Ovale ◽  
Congenital Heart ◽  
Septal Defect ◽  
Foramen Ovale ◽  
Asd Closure

Penyakit jantung kongenital dewasa / grown-up congenital heart disease   (GUCH) yang menempati urutan teratas dengan insidensi 10% dari jantung kongenital asianotik pada dewasa adalah atrial septal defect (ASD). Terapi optimal ASD masih kontroversial. Operasi direkomendasikan pada pasien usia pertengahan dan usia tua dengan pintasan kiri ke kanan yang bermakna. Komorbid yang paling sering didapatkan pada defek kongenital pada usia dewasa muda adalah gangguan hemodinamik, hipertensi pulmonal, aritmia,  penyakit kardiovaskular dan penyakit resprasi. Dilaporkan pasien perempuan usia 29 tahun dengan atrial septal defect(ASD) dengan hipertensi pulmonaldan Left Ventricle (LV) Smallishyang dilakukan operasi penututupan defek atrial atau ASD closure. Persiapan preoperasi mencakup anamnesa, pemeriksaan fisik dan pemeriksaan penunjang.Perubahan patologi utama adalah peningkatan resistensi vaskuler paru dan perubahan sekunder terhadap peningkatan aliran darah dari pintasan kiri ke kanan. Masalah yang dihadapi pada pasien  perioperasi ini adalah ukuran jantung kiri baik atrium maupun ventrikel kiri yang kecil memberikan dampak hemodinamik tidak stabil berupa aritmia dan pulmonal hipertensi saat dilakukan penutupan defek. Pemberianobat topangan jantung (nitroglyserin, milrinone, norepinephrine, adrenaline) dan pembuatan Patent Foramen Ovale (PFO) memberikan hasil hemodinamik yang stabil selama operasi dan  di ruang perawatan Intensive Care Unit (ICU).

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