Maternal alcohol drinking pattern during pregnancy and the risk for an offspring with an isolated congenital heart defect and in particular a ventricular septal defect or an atrial septal defect

2011 ◽  
Vol 91 (7) ◽  
pp. 616-622 ◽  
Author(s):  
Katrine Strandberg-Larsen ◽  
Lise Skrubbeltrang Skov-Ettrup ◽  
Morten Grønbaek ◽  
Anne-Marie Nybo Andersen ◽  
Jørn Olsen ◽  
...  
Keyword(s):  
Ventricular Septal Defect ◽  
Atrial Septal Defect ◽  
Congenital Heart Defect ◽  
Alcohol Drinking ◽  
Congenital Heart ◽  
Septal Defect ◽  
Drinking Pattern ◽  
Maternal Alcohol ◽  
Heart Defect

scholarly journals Prevalence of congenital septal defects among congenital heart defect patients in East Africa: A systematic review and meta-analysis

PLoS ONE ◽  
2021 ◽  
Vol 16 (4) ◽  
pp. e0250006
Author(s):  
Yossef Teshome Zikarg ◽  
Chalachew Tiruneh Yirdaw ◽  
Teshome Gebremeskel Aragie
Keyword(s):  
Ventricular Septal Defect ◽  
Atrial Septal Defect ◽  
East Africa ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Septal Defect ◽  
Google Scholar ◽  
Cochrane Library ◽  
East African ◽  
Pooled Prevalence

Introduction Congenital heart defects (CHDs) are the most common congenital defects and accounts for nearly one-third of all major congenital anomalies. It is the leading causes of birth defect-associated morbidity, mortality, and medical expenditures. Of all CHD types, ventricular septal defect (VSD) and atrial septal defect (ASD) accounted 51% of cases with an increasing trend over time. Objective The aim of this review is to estimate the pooled prevalence of ventricular septal defect and congenital atrial septal defect among congenital heart diseases patients in East African context. Methods Using PRISMA guideline, we systematically reviewed and meta-analyzed studies that examined the prevalence of Ventricular septal defect and atrial septal defect in East Africa, from Medline (PubMed), Cochrane Library, HINARI, and Google Scholar. A weighted inverse variance random-effects model was used to estimate the pooled prevalence of ventricular septal defect and atrial septal defect. Results A total of 2323 studies were identified; 1301 from PubMed, 12 from Cochrane Library, 1010 from Google Scholar and 22 from other sources. The pooled prevalence of ventricular septal defect and atrial septal defect in East Africa was found to be 29.92% (95% CI; 26.12–33.72; I2 = 89.2%; p<0.001), and 10.36% (95% CI; 8.05–12.68; I2 = 89.5%; p<0.001) respectively. Conclusions and future implications Based on this review, the pooled prevalence of VSD and ASD is still high and alarming; this signifies that the emphasis given for congenital heart defect in East African countries is limited. Special attention and efforts should be applied for early detection to prevent serious complications and for a better prognosis of all forms of CHD. A screening program for CHD should be instituted during the perinatal period. Furthermore, early referral of suspected cases of congenital cardiac anomalies is mandatory for better management till the establishment of cardiac centers in different regions of the continent.

scholarly journals An unrecognized combined congenital heart defect - Bicuspid aortic valve and ventricular septal defect as a cause of acute heart failure in adulthood

Cor et Vasa ◽  
2018 ◽  
Vol 60 (5) ◽  
pp. e512-e517 ◽  
Author(s):  
Kristýna Bayerová ◽  
Gabriela Dostálová ◽  
Zuzana Hlubocká ◽  
Tomáš Paleček ◽  
Jaroslav Hlubocký ◽  
...  
Keyword(s):  
Heart Failure ◽  
Aortic Valve ◽  
Ventricular Septal Defect ◽  
Acute Heart Failure ◽  
Bicuspid Aortic Valve ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Defect

Disturbance in Heart Rate during Exercise Following Lntracardiac Repair: Contribution of Cardiopulmonary Bypass

1992 ◽  
Vol 4 (3) ◽  
pp. 270-280 ◽  
Author(s):  
Hélène Perrault ◽  
André Davignon ◽  
Gail Grief ◽  
Anne Fournier ◽  
Claude Chartrand
Keyword(s):  
Heart Rate ◽  
Cardiopulmonary Bypass ◽  
Ventricular Septal Defect ◽  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Septal Defect ◽  
Control Group ◽  
Common Denominator ◽  
Chronotropic Response ◽  
Heart Defect

A disturbance in the chronotropic response to exercise has well documented following surgical repair of a congenital heart defect. Observations of a similar dysfunction following correction of simple atrial as well as ventricular septal defect suggest that its occurrence might be linked to a common denominator in the surgical procedures. Since cardiopulmonary bypass (CPB) is used for all initacardiac surgeries, the contribution of this factor to the abnormal response was examined. Three groups of patients von; evaluated: VSDop: operated on for a ventricular septal defect, CPB required; VSDnon-op: spontaneous closure of a congenital 73D, no surgery; and PDAoperated on for a patent ductus arteriosus, no CPB required. They were compared io a control group of healthy adolescents (C). The main, finding was that of lower submax final and maximal heart rates in VCDop disc in any other group. These results suggest that placement of cannulae resulting from-CPB could alter the control of heart rate during exercise and contribute to the abnormal chronotropic response following intracardiac repair of a congenital heart defect.

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.

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.

Chance and Ventricular Septal Defect

PEDIATRICS ◽  
1986 ◽  
Vol 77 (6) ◽  
pp. 930-931
Author(s):  
JAMES J. NORA
Keyword(s):  
Ventricular Septal Defect ◽  
Congenital Heart Defect ◽  
Genetic Predisposition ◽  
Congenital Heart ◽  
Septal Defect ◽  
Heart Diseases ◽  
Large Element ◽  
Congenital Heart Diseases ◽  
Multifactorial Inheritance ◽  
New Hypothesis

To the Editor.— Newman1 has restated the multifactorial inheritance hypothesis of the etiology of congenital heart diseases to emphasize the element of chance (which is, of course, inherent in the hypothesis) and proposes what he considers to be a new hypothesis. There is, of course, a very large element of chance in multifactorial inheritance for an individual with a genetic predisposition to ventricular septal defect or other congenital heart defect also to have a genetic predisposition to an environmental teratogen and finally to have these two predispositions triggered during the very short vulnerable period of cardiogenesis (approximately 1 month or less in duration for most lesions).

Aortic Root Translocation for Repair of Transposition of Great Arteries With Absent Pulmonary Valve

2019 ◽  
Vol 10 (4) ◽  
pp. 513-514
Author(s):  
Ashish Katewa ◽  
Nishith Bhargava ◽  
Balswaroop Sahu ◽  
Atul Prabhu ◽  
Shivani Gajpal
Keyword(s):  
Ventricular Septal Defect ◽  
Tetralogy Of Fallot ◽  
Congenital Heart Defect ◽  
Aortic Root ◽  
Rare Case ◽  
Congenital Heart ◽  
Septal Defect ◽  
Pulmonary Valve ◽  
Absent Pulmonary Valve ◽  
Transposition Of Great Arteries

Absent pulmonary valve is a rare congenital heart defect where the pulmonary valve is either absent or rudimentary. It is usually associated with tetralogy of Fallot although it has been reported with other lesions. We present a rare case of absent pulmonary valve associated with transposition of great arteries and non-routable ventricular septal defect that was surgically managed by aortic root translocation.

scholarly journals DOUBLE ANEUPLOIDY 48,XXY,+21 ASSOCIATED WITH A CONGENITAL HEART DEFECT IN A NEONATE

2013 ◽  
Vol 16 (2) ◽  
pp. 85-89 ◽  
Author(s):  
X. Shu ◽  
C. Zou ◽  
Z. Shen
Keyword(s):  
Congenital Heart Defect ◽  
Congenital Heart ◽  
Septal Defect ◽  
Klinefelter Syndrome ◽  
Complex Congenital Heart Disease ◽  
Valve Regurgitation ◽  
Secundum Atrial Septal Defect ◽  
Tricuspid Valve Regurgitation ◽  
Heart Defect ◽  
Double Aneuploidy

ABSTRACT A neonate with a double aneuploidy associated with congenital heart defect (CHD) suffered from cyanosis after birth. He had typical features of Down syndrome (DS) including hypertelorism, slightly lowset ears with protruding pinna. Doppler echocardiography indicated complex congenital heart disease with an ostium secundum atrial septal defect, enlarged right ventricle, and mild tricuspid valve regurgitation. Further chromosomal analysis showed a karyotype of 48,XXY,+21: a double aneuploidy of DS and Klinefelter syndrome (KS). Until now, only seven cases of double aneuploidy associated with CHD defect have been reported

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