scholarly journals Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart Disease

Genes ◽  
2019 ◽  
Vol 10 (9) ◽  
pp. 663 ◽  
Author(s):  
Alessandro Testori ◽  
Vito A. Lasorsa ◽  
Flora Cimmino ◽  
Sueva Cantalupo ◽  
Antonella Cardinale ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Neural Crest ◽  
Congenital Heart ◽  
Septal Defect ◽  
Association Studies ◽  
Functional Characterization ◽  
Neural Crest Cell ◽  
Heart Cell ◽  
Genome Wide Association Studies

In the past years, genome wide association studies (GWAS) have provided evidence that inter-individual susceptibility to diverse pathological conditions can reveal a common genetic architecture. Through the analysis of congenital heart disease (CHD) and neuroblastoma (NB) GWAS data, we aimed to dissect the genetic susceptibility shared between these conditions, which are known to arise from neural crest cell (NCC) migration or development abnormalities, via identification and functional characterization of common regions of association. Two loci (2q35 and 3q25.32) harbor single nucleotide polymorphisms (SNPs) that are associated at a p-value < 10−3 with conotruncal malformations and ventricular septal defect respectively, as well as with NB. In addition, the lead SNP in 4p16.2 for atrial septal defect and the lead SNP in 3q25.32 for tetralogy of Fallot are less than 250 Kb distant from the lead SNPs for NB at the same genomic regions. Some of these shared susceptibility loci regulate the expression of relevant genes involved in NCC formation and developmental processes (such as BARD1, MSX1, and SHOX2) and are enriched in several epigenetic markers from NB and fetal heart cell lines. Although the clinical correlation between NB and CHD is unclear, our exploration of a possible common genetic basis between NB and a subset of cardiac malformations can help shed light on their shared embryological origin and pathogenetic mechanisms.

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.

ABNORMAL CAPILLARY MORPHOLOGY IN CONGENITAL HEART DISEASE

PEDIATRICS ◽  
1966 ◽  
Vol 37 (2) ◽  
pp. 316-322
Author(s):  
Stella B. Kontras ◽  
JoAnn G. Bodenbender
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
Septal Defect ◽  
Chronic Hypoxia ◽  
Normal Children ◽  
Vascular Abnormalities ◽  
Definitive Surgery ◽  
Vascular Compartment

Capillary morphology has been studied in 111 normal children. In 98% of these cases, straight hairpin forms make up over 80% of the capillaries examined. Thirty children with congenital heart disease showed 80% abnormal capillary patterns consisting of dilated, tortuous, and branched loops. These were most marked in cyanotic tetralogy of Fallot and ventricular septal defect with pulmonary hypertension. These cases also were associated with microscopic hemorrhages, increased capillary fragility and actual postoperative hemorrhagic complications. Definitive surgery in two cases, though improving the patient, did not result in changes in the abnormal capillary patterns. It is suggested that the role of the capillary structure in rheology of blood in the microvasculature has largely been ignored and that abnormalities in this vascular compartment may affect perfusion of tissues. The association of abnormalities in coagulation studies, hemorrhage, and thrombosis with congenital heart disease may in part be related to the morphologic vascular abnormalities. The abnormal capillary findings may be due to maturational arrest or dysmaturity of this portion of the cardiovascular system or may be the result of chronic hypoxia.

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.

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.

scholarly journals Incidence of Congenital Heart Disease among Hospital Live Birth in a Tertiary Hospital of Bangladesh

1970 ◽  
Vol 1 (1) ◽  
pp. 14-20 ◽  
Author(s):  
NN Fatema ◽  
RB Chowdhury ◽  
L Chowdhury
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Early Detection ◽  
Live Birth ◽  
Congenital Heart ◽  
Septal Defect ◽  
Ductus Arteriosus ◽  
Military Hospital ◽  
Live Births ◽  
Paediatric Cardiologist

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  

scholarly journals Prevalence of Congenital Heart Disease: A Single Center Experience in Southwestern of Iran

2016 ◽  
Vol 8 (10) ◽  
pp. 288 ◽  
Author(s):  
Pedram Nazari ◽  
Mohammad Davoodi ◽  
Mohammad Faramarzi ◽  
Mohammad Bahadoram ◽  
Nozar Dorestan
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Family History ◽  
Congenital Heart ◽  
Septal Defect ◽  
Cross Sectional Study ◽  
Concomitant Disease ◽  
Single Center ◽  
Cross Sectional ◽  
Single Center Experience

<p><strong>BACKGROUND:</strong> Congenital heart disease (CHD) refers to complex abnormalities that affect the structure or function of the heart due to embryonic defects. There is little accurate statistical data about prevalence, incidence and frequency in many developing countries such as Iran. The aim of this study was to evaluate the frequency of CHD in patients who were referred to the Department of Pediatric Cardiology in a large single-center in Southwestern of Iran.</p><p><strong>METHODS:</strong> This is a retrospective, cross-sectional study. Patients with various cardiac malformations were each investigated separately. A check list was used to collect information. It was comprised of three parts; demographic characteristics, Patient’s birth details and maternal data.</p><p><strong>RESULTS:</strong> The frequency of ventricular septal defect (VSD), atrial septal defect (ASD) and tetralogy of fallot (TOF) were 125 (28.47%), 48 (10.93%) and 41(9.3%) respectively. Family history was reported in 26(11.1%) cases. Down syndrome, skeletal anomaly and hematological anomaly were the most common co-anomalies. Parental consanguinity was 48.7%.</p><p><strong>CONCLUSIONS:</strong> Present study showed that VSD was the most common CHD subtype followed by family history, familial marriage, extra cardiac anomalies (ECAs), birth weight, and maternal concomitant disease. But there was a controversial relationship between birth order and drug history in CHD.</p>

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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