scholarly journals Fetal Blood Flow and Genetic Mutations in Conotruncal Congenital Heart Disease

2021 ◽  
Vol 8 (8) ◽  
pp. 90
Author(s):  
Laura A. Dyer ◽  
Sandra Rugonyi
Keyword(s):  
Congenital Heart Disease ◽  
Blood Flow ◽  
Heart Disease ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Heart Defects ◽  
Genetic Mutations ◽  
Fetal Blood ◽  
Persistent Truncus Arteriosus ◽  
Fetal Circulation

In congenital heart disease, the presence of structural defects affects blood flow in the heart and circulation. However, because the fetal circulation bypasses the lungs, fetuses with cyanotic heart defects can survive in utero but need prompt intervention to survive after birth. Tetralogy of Fallot and persistent truncus arteriosus are two of the most significant conotruncal heart defects. In both defects, blood access to the lungs is restricted or non-existent, and babies with these critical conditions need intervention right after birth. While there are known genetic mutations that lead to these critical heart defects, early perturbations in blood flow can independently lead to critical heart defects. In this paper, we start by comparing the fetal circulation with the neonatal and adult circulation, and reviewing how altered fetal blood flow can be used as a diagnostic tool to plan interventions. We then look at known factors that lead to tetralogy of Fallot and persistent truncus arteriosus: namely early perturbations in blood flow and mutations within VEGF-related pathways. The interplay between physical and genetic factors means that any one alteration can cause significant disruptions during development and underscore our need to better understand the effects of both blood flow and flow-responsive genes.

scholarly journals Pattern of congenital heart disease among children presenting to the Uganda Heart Institute, Mulago Hospital: a 7-year review

2020 ◽  
Vol 20 (2) ◽  
pp. 745-752 ◽  
Author(s):  
Judith Namuyonga ◽  
Sulaiman Lubega ◽  
Twalib Aliku ◽  
John Omagino ◽  
Craig Sable ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Heart Defects ◽  
Truncus Arteriosus ◽  
Deletion Syndrome ◽  
Mulago Hospital ◽  
22Q11.2 Deletion ◽  
Heart Institute

Background: Congenital heart disease (CHD) is the most common congenital anomaly in children. Over half of the deaths due to CHD occur in the neonatal period. Most children with unrepaired complex heart lesions do not live to celebrate their first birthday. We describe the spectrum of congenital heart disease in Uganda. Methods: We retrospectively reviewed the data of children with CHD who presented to the Uganda Heart Institute (UHI), Mulago Hospital Complex from 2007 to 2014. Results: A total of 4621 children were seen at the UHI during the study period. Of these, 3526 (76.3%) had CHD; 1941(55%) were females. Isolated ventricular septal defect (VSD) was the most common CHD seen in 923 (27.2%) children followed by Patent ductus arteriosus (PDA) 760 (22%) and atrial septal defects (ASD) 332 (9.4%). Tetralogy of Fallot (TOF) and Truncus arteriosus were the most common cyanotic heart defects (7% and 5% respectively). Dysmorphic features were diagnosed in 185 children, of which 61 underwent genetic testing (Down syndrome=24, 22q11.2 deletion syndrome n=10). Children with confirmed 22q11.2 deletion had conotruncal abnormalities. Conclusion: Isolated VSD and Tetralogy of Fallot are the most common acyanotic and cyanotic congenital heart defects. We report an unusually high occurrence of Truncus arteriosus. Keywords: Congenital heart disease; children; Uganda.

scholarly journals Pattern and frequency of pediatric congenital heart disease at the Cardiac Research Institute of Kabul Medical University, Afghanistan

2018 ◽  
Vol 58 (3) ◽  
pp. 106-9
Author(s):  
Abdul Muhib Sharifi
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Atrial Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defects ◽  
Cardiac Lesions ◽  
Medical University ◽  
Research Institute

Background Congenital heart disease (CHD) is the most common birth defect, with incidence of 0.7-0.9 live birth; it increases to 2-6% if first degree relative is affected. In Afghanistan majority of births take place at home and routine screening of neonates is not common, so true birth prevalence of CHD cannot be possibly calculated. Therefore, true prevalence of CHD in our population is unknown. Objective To verify the current pattern and frequency distribution of congenital heart disease (CHD) at the Cardiac Research Institute of Kabul Medical University. Methods  This retrospective study was conducted in children aged 0-14 years, who underwent echocardiography for possible congenital heart disease from January 2015 to December 2016. Results  Of 560 patients who underwent echocardiography, 392(70%) had cardiac lesions. Congenital cardiac lesions were found in 235 (60% of those with lesions) patients, while 157 (40%) patients had rheumatic heart disease. Patients with CHD were further subdivided into acyanotic and cyanotic groups. The majority of acyanotic group had isolated atrial septal defect (55%) while the most common lesion in the cyanotic group was Tetralogy of Fallot (42%). Conclusion Congenital heart defects are the most common heart disease in the pediatric population presenting at the Cardiac Research Institute of Kabul Medical University. Atrial septal defect (ASD) was the most common acyanotic defect, while Tetralogy of Fallot (ToF) is the most common cyanotic defect.

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 Functional characterization of a novel PBX1 de novo missense variant identified in a patient with syndromic congenital heart disease

2019 ◽  
Vol 29 (7) ◽  
pp. 1068-1082
Author(s):  
Dimuthu Alankarage ◽  
Justin O Szot ◽  
Nick Pachter ◽  
Anne Slavotinek ◽  
Licia Selleri ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart ◽  
De Novo ◽  
Heart Defects ◽  
Functional Characterization ◽  
Functional Model ◽  
Missense Variant ◽  
Congenital Defects ◽  
Persistent Truncus Arteriosus

Abstract Pre-B cell leukemia factor 1 (PBX1) is an essential developmental transcription factor, mutations in which have recently been associated with CAKUTHED syndrome, characterized by multiple congenital defects including congenital heart disease (CHD). During analysis of a whole-exome-sequenced cohort of heterogeneous CHD patients, we identified a de novo missense variant, PBX1:c.551G&gt;C p.R184P, in a patient with tetralogy of Fallot with absent pulmonary valve and extra-cardiac phenotypes. Functional analysis of this variant by creating a CRISPR-Cas9 gene-edited mouse model revealed multiple congenital anomalies. Congenital heart defects (persistent truncus arteriosus and ventricular septal defect), hypoplastic lungs, hypoplastic/ectopic kidneys, aplastic adrenal glands and spleen, as well as atretic trachea and palate defects were observed in the homozygous mutant embryos at multiple stages of development. We also observed developmental anomalies in a proportion of heterozygous embryos, suggestive of a dominant mode of inheritance. Analysis of gene expression and protein levels revealed that although Pbx1 transcripts are higher in homozygotes, amounts of PBX1 protein are significantly decreased. Here, we have presented the first functional model of a missense PBX1 variant and provided strong evidence that p.R184P is disease-causal. Our findings also expand the phenotypic spectrum associated with pathogenic PBX1 variants in both humans and mice.

scholarly journals The effect of hypocapnia on systemic perfusion in patients with single ventricle after surgery

2021 ◽  
Vol 18 (1) ◽  
pp. 65-74
Author(s):  
A. В. Naumov ◽  
G. G. Khubulava ◽  
Yu. S. Аleksandrovich ◽  
S. P. Marchenko ◽  
К. V. Pshenisnov ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Blood Flow ◽  
Heart Disease ◽  
Congenital Heart ◽  
Heart Defects ◽  
Venous Blood ◽  
Extraction Ratio ◽  
Mixed Venous Blood ◽  
O2 Extraction ◽  
Mixed Venous

The objective: the aim of the study was to identify the relationship between arterial hypocapnia and systemic hypoperfusion in newborns with single ventricular physiology after hemodynamic correction of congenital heart disease. Subjects and methods. 125 newborns with congenital heart defects operated from 2014 to 2018 were examined retrospectively.  Arterial and central venous blood gases were collected in the postoperative period.  A total of 670 pairs of laboratory results were selected.Results. Based on the presence/absence of hypocapnia (PaCO2 less than 35 mm Hg), 2 groups were formed. Group G-0 (the hypocapnic variant of the single-ventricular circulation) comprised 44 observations. Group G-1 (PaCO2 more than 35 mm Hg) included 40 observations.  In 32 (38%) cases the level of systemic perfusion was within the normal range, in 52 (62%) cases, systemic hypoperfusion was detected.  In samples corresponding to Group G-1, signs of DOS were observed in 20 cases.  The study showed that the most pronounced intergroup difference in parametric data was observed among indicators reflecting oxygen consumption and, as a consequence, the system flow rate (РO2 in mixed venous blood, saturation in mixed venous blood, arterio-venous difference in saturation, O2 content in venous blood, O2 extraction ratio, arterio-venous difference in РCO2).  In addition, the HF markers such as arterio-venous difference in saturation, O2 extraction ratio, arterio-venous difference in РCO2 had a strong correlation with the signs of systemic hypoperfusion. In the hypocapnic group, the tendency for more pronounced desaturation of venous blood was determined, and a higher arterio-venous difference in saturation, O2 content in venous blood, O2 extraction ratio, and arterio-venous difference in РCO2 parameters were also noted.Conclusions. Arterial hypocapnia may be a sign of pulmonary overflow and reduction of systemic blood flow in newborns with single ventricular physiology, after hemodynamic correction of congenital heart disease.  When managing newborns with parallel circulation, hypocapnia should be avoided as a factor contributing to the redistribution of blood flow from left to right and the development of systemic hypoperfusion. 

scholarly journals Update on fetal cardiovascular magnetic resonance and utility in congenital heart disease

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Liqun Sun ◽  
Fu-Tsuen Lee ◽  
Joshua F. P. van Amerom ◽  
Lindsay Freud ◽  
Edgar Jaeggi ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Blood Flow ◽  
Cardiovascular Magnetic Resonance ◽  
Heart Disease ◽  
Magnetic Resonance ◽  
Congenital Heart ◽  
Motion Artifacts ◽  
Large Animal ◽  
Main Body ◽  
Fetal Circulation

Abstract Background Congenital heart disease (CHD) is the most common birth defect, affecting approximately eight per thousand newborns. Between one and two neonates per thousand have congenital cardiac lesions that require immediate post-natal treatment to stabilize the circulation, and the management of these patients in particular has been greatly enhanced by prenatal detection. The antenatal diagnosis of CHD has been made possible through the development of fetal echocardiography, which provides excellent visualization of cardiac anatomy and physiology and is widely available. However, late gestational fetal echocardiographic imaging can be hampered by suboptimal sonographic windows, particularly in the setting of oligohydramnios or adverse maternal body habitus. Main body Recent advances in fetal cardiovascular magnetic resonance (CMR) technology now provide a feasible alternative that could be helpful when echocardiography is inconclusive or limited. Fetal CMR has also been used to study fetal circulatory physiology in human fetuses with CHD, providing new insights into how these common anatomical abnormalities impact the distribution of blood flow and oxygen across the fetal circulation. In combination with conventional fetal and neonatal magnetic resonance imaging (MRI) techniques, fetal CMR can be used to explore the relationship between abnormal cardiovascular physiology and fetal development. Similarly, fetal CMR has been successfully applied in large animal models of the human fetal circulation, aiding in the evaluation of experimental interventions aimed at improving in utero development. With the advent of accelerated image acquisition techniques, post-processing approaches to correcting motion artifacts and commercial MRI compatible cardiotocography units for acquiring gated fetal cardiac imaging, an increasing number of CMR methods including angiography, ventricular volumetry, and the quantification of vessel blood flow and oxygen content are now possible. Conclusion Fetal CMR has reached an exciting stage whereby it may now be used to enhance the assessment of cardiac morphology and fetal hemodynamics in the setting of prenatal CHD.

The Impact of Congenital Heart Disease on Cognitive and Behavioral Functioning

2010 ◽  
Author(s):  
Jo Wray
Keyword(s):  
Congenital Heart Disease ◽  
Blood Flow ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Congenital Abnormalities ◽  
Heart Defects ◽  
Survival Rates ◽  
Arterial Circulation ◽  
Great Vessels

Congenital heart disease (CHD) has been defined as “. . . a gross structural abnormality of the heart or intrathoracic great vessels that is actually or potentially of functional significance” (Mitchell, Korones, and Berendes 1971). Congenital heart disease is the most common single group of congenital abnormalities, accounting for about 30% of the total. The incidence is reported as varying between 0.3% and 1% of all live births. Ten to 15% of children with congenital heart defects have more than one cardiac abnormality; up to one-third also have one or more associated noncardiac congenital abnormalities (Wernovsky 2006). Although some forms of CHD are minor and do not require any medical or surgical intervention, others are very complex and may necessitate a series of staged surgical procedures and/or require life-long medications. Significant improvements in medical and surgical techniques have resulted in increasing numbers of children and adults living with CHD, and it is currently anticipated that 80%–85% of children born with CHD today will survive into adulthood (British Cardiac Society 2002). However, although survival rates have improved dramatically over the last 40 years or so, morbidity remains a concern. Congenital heart defects can be broadly subdivided into two groups, based on changes in the circulation. Acyanotic defects may be due to either a left-to-right shunt or to an obstructive lesion; there is no mixing of desaturated blood in the systemic arterial circulation. With cyanotic defects, there may be either increased or diminished pulmonary flow, and desaturated blood enters the systemic arterial circulation, regardless of whether cyanosis is clinically evident. Unsaturated venous blood bypassing the lungs can result in secondary polycythemia, which is a compensatory mechanism to carry more oxygen to the tissues. This causes increased viscosity, which in turn results in sluggish blood circulation and impeded blood flow, particularly in the capillaries. Poor peripheral blood flow and clubbing of the fingers and toes can result, breathlessness and fatigue often result in a reduced exercise tolerance, and growth may be affected.

Cerebrovascular Blood Flow Dynamic Changes in Fetuses with Congenital Heart Disease

2009 ◽  
Vol 25 (1) ◽  
pp. 167-172 ◽  
Author(s):  
Lv Guorong ◽  
Li Shaohui ◽  
Jin Peng ◽  
Lin Huitong ◽  
Li Boyi ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Blood Flow ◽  
Heart Disease ◽  
Congenital Heart ◽  
Flow Dynamic ◽  
Dynamic Changes ◽  
Blood Flow Dynamic

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 Down syndrome and congenital heart disease: perioperative planning and management

2021 ◽  
Vol 5 (1) ◽  
Author(s):  
Dennis R. Delany ◽  
Stephanie S. Gaydos ◽  
Deborah A. Romeo ◽  
Heather T. Henderson ◽  
Kristi L. Fogg ◽  
...  
Keyword(s):  
Congenital Heart Disease ◽  
Down Syndrome ◽  
Cardiac Surgery ◽  
Heart Disease ◽  
Congenital Heart ◽  
Single Ventricle ◽  
Heart Defects ◽  
Careful Consideration ◽  
Children With Down Syndrome ◽  
Perioperative Planning

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.

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