Elevated birth prevalence of conotruncal heart defects in a population with high consanguinity rate

2016 ◽  
Vol 27 (1) ◽  
pp. 109-116 ◽  
Author(s):  
Moshe Stavsky ◽  
Renana Robinson ◽  
Maayan Yitshak Sade ◽  
Hanah Krymko ◽  
Eli Zalstein ◽  
...  
Keyword(s):  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Medical Center ◽  
Heart Defects ◽  
Paternal Age ◽  
Truncus Arteriosus ◽  
Birth Prevalence ◽  
Live Births ◽  
Conotruncal Heart Defects

AbstractBackgroundThe aetiology of conotruncal heart defects is poorly understood and the birth prevalence varies geographically. The known risk factors for developing conotruncal heart defects are as follows: CHD in siblings, genetic chromosomal abnormalities, paternal age >30 years, high parity, low birth weight, prematurity, and maternal diabetes.ObjectiveThe aim of this study was to characterise conotruncal heart defects, birth prevalence, mortality, and morbidity in the population of southern Israel, of whom 75% are Jewish and the rest are mostly Bedouin Arabs.MethodsThe data were obtained from Soroka University Medical Center database of births and newborns. Conotruncal heart defects cases were identified by ICD9 codes.ResultsDuring 1991–2011, there were 247,290 singleton live births and 393 conotruncal heart defects in Soroka University Medical Center. The birth prevalence per 10,000 live births of tetralogy of Fallot, transposition of the great arteries, and truncus arteriosus was 9.5, 5, and 1.8, respectively. In the multivariate analysis, Bedouin descent (adjusted odds ratio 2.40, p<0.001), maternal age >35 years (1.66, p=0.004), and siblings with congenital heart defects (1.98, p=0.005) were associated with tetralogy of Fallot, and Bedouin descent (1.61, p=0.05), siblings with congenital heart defects (2.19, p=0.004), and diabetes mellitus (7.15, p<0.001) were associated with transposition of the great arteries. In a univariate analysis, Bedouin descent (p=0.004) and congenital heart defects in siblings (p<0.001) were associated with truncus arteriosus.ConclusionWe observed higher birth prevalence of conotruncal heart defects compared with the birth prevalence reported worldwide, specifically among the Bedouins, a population characterised with high consanguinity rate. Therefore, genetic counselling and early fetal echocardiograms should be encouraged, especially in high consanguinity rate populations. Naturally, further educational efforts are needed in order to decrease consanguinity and its related consequences.

scholarly journals Congenital Heart Defects in Monochorionic Twins: A Systematic Review and Meta-Analysis

2019 ◽  
Vol 8 (6) ◽  
pp. 902 ◽  
Author(s):  
Manon Gijtenbeek ◽  
Maryam R. Shirzada ◽  
Arend D. J. Ten Harkel ◽  
Dick Oepkes ◽  
Monique C. Haak
Keyword(s):  
Systematic Review ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Meta Analysis ◽  
Right Ventricular Outflow Tract ◽  
Monochorionic Twins ◽  
Birth Prevalence ◽  
Live Births ◽  
Increased Risk

Monochorionic (MC) twins are at an increased risk of developing congenital heart defects (CHDs) compared to singletons and dichorionic twins. The development of acquired CHDs in this specific group of twins is associated with twin–twin transfusion syndrome (TTTS). We performed a systematic review and meta-analysis to provide an overview of the reported birth prevalence of CHDs in liveborn MC twins with and without TTTS. Twelve studies were included in this review. Compared to the reference population, MC twins were 6.3 times more likely to be born with a CHD (59.3 per 1000 liveborn twins; relative risk (RR) 6.3; 95% confidence interval (CI): 4.4–9.1), and TTTS twins had a 12-fold increased risk of having a CHD at birth (87.3 per 1000 live births; RR 12.4, 95% CI: 8.6–17.8). The increased incidence of CHDs can mainly be attributed to the risk of right ventricular outflow tract obstruction (35/1000 TTTS twin live births vs. 0.5/1000 singleton live births). We recommend an expert fetal echocardiogram in all MC twins, follow-up scans in the event of TTTS, and a postnatal cardiac evaluation in all TTTS survivors.

An unusual case of tetralogy of Fallot with an absent pulmonary valve associated with a retro-aortic innominate vein in a patient with a 16p12.2 microdeletion

2021 ◽  
pp. 1-2
Author(s):  
Niall Linnane ◽  
Andrew Green ◽  
Colin J. McMahon
Keyword(s):  
Aortic Arch ◽  
Tetralogy Of Fallot ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Unusual Case ◽  
Pulmonary Valve ◽  
Heart Defects ◽  
Innominate Vein ◽  
Absent Pulmonary Valve ◽  
Rare Association

Abstract 16p12.2 microdeletion has been associated with congenital heart defects and developmental delay. In this case, we describe the rare association between tetralogy of Fallot with an absent pulmonary valve a right-sided aortic arch and a retro-aortic innominate vein associated with a 16p12.2 microdeletion and epilepsy.

Out-of-hospital sudden cardiac arrest in children with congenital heart defects

2017 ◽  
Vol 103 (1) ◽  
pp. 57-60 ◽  
Author(s):  
Jarle Jortveit ◽  
Jakob Klcovansky ◽  
Gaute Døhlen ◽  
Leif Eskedal ◽  
Sigurd Birkeland ◽  
...  
Keyword(s):  
Cardiac Arrest ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Sudden Cardiac Arrest ◽  
Supplementary Information ◽  
Clinical Registry ◽  
Birth Registry ◽  
Live Births ◽  
Hospital Cardiac Arrest

AimsOut-of-hospital sudden cardiac arrest (SCA) is a rare but devastating event in children and adolescents. The risk is assumed to be higher in children with congenital heart defects (CHDs) than in healthy individuals. The aim of the present study was to investigate the rate of and survival after out-of-hospital cardiac arrest in children 2–18 years old with CHDs.Methods and resultsData concerning all live births in Norway between 1994 and 2009 were retrieved from the Medical Birth Registry of Norway, the patient administrative systems at all hospitals in Norway, the Oslo University Hospital’s Clinical Registry for Congenital Heart Defects and the Norwegian Cause of Death Registry. Survivors were followed through 2012, and supplementary information for the deceased children was retrieved from medical records at Norwegian hospitals. Among the 943 871 live births in Norway from 1994 to 2009, 11 272 (1.2%) children had a CHD. We identified 11 (0.1%) children 2–18 years old with CHDs who experienced out-of-hospital SCA. The estimated rate of out-of-hospital SCA in children 2–18 years old with CHD was 10 per 100 000 person-years. Early cardiopulmonary resuscitation was initiated in all patients. Three children survived.ConclusionsThe incidence of and survival after out-of-hospital SCA in children with CHDs were comparable to the reported rates in the general child population.

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.

Frequency and spectrum of congenital heart defects among live births in Germany

2011 ◽  
Vol 100 (12) ◽  
pp. 1111-1117 ◽  
Author(s):  
Gerda Schwedler ◽  
Angelika Lindinger ◽  
Peter E. Lange ◽  
Ulrich Sax ◽  
Julianna Olchvary ◽  
...  
Keyword(s):  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Live Births

scholarly journals The incidence of congenital heart defects in the world regarding the severity of the defect

2016 ◽  
Vol 73 (2) ◽  
pp. 159-164 ◽  
Author(s):  
Vesna Miranovic
Keyword(s):  
Congenital Heart Disease ◽  
Heart Disease ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Methodological Approach ◽  
Live Births ◽  
Significant Difference ◽  
The World

Bacground/Aim. Congenital heart defects (CHDs) are structural or functional abnormalities of the heart present at birth even if they are detected much later. Their importance lies in the fact that, depending on the severity, they change the quality of life, and may be life threating. In addition, we should not ignore the high costs of treating people with congenital heart disease. The aim of this study was to analyze the incidence of congenital heart disease in relation to the severity in the world based on the available literature. Methods. All the available literature on the incidence of CHD cases regarding the severity of CHD published from 1955 to 2012 was analyzed. The researcher was able to read the titles and abstracts of 128 papers on the subject. Due to methodological inconsistency, 117 of the papers were rejected. Based on the criteria of reliability, availability and comparability, our analysis included 11 studies testing CHD incidence regarding the severity of the defect conducted all over the world. The Yates' ?2-test was used to compare the observed incidences. Results. The frequency of severe congenital heart defects, ranged from 0.414 to 2.3/1,000 live births, the incidence of moderate congenital heart defects from 0.43 to 2.6/1,000 live births while in the group of minor congenital heart defects the incidence ranged from 0.99 to 10.3/1000 live births. There were no statistically significant differences in the incidence of mild, moderate and severe CHDs. Conclusion. The results obtained studying of the available data suggest that no statistically significant difference in the incidence of mild, moderate and severe congenital heart defects. A universal methodological approach to the incidence of CHD is essential.

scholarly journals A Case of Situs Ambiguous and Complex Cardiac Defect Presenting as Fetal Hydrops

2017 ◽  
Vol 02 (02) ◽  
pp. 060-063
Author(s):  
Shagun Aggarwal
Keyword(s):  
Case Report ◽  
Congenital Heart Defects ◽  
Congenital Heart ◽  
Heart Defects ◽  
Cardiac Defect ◽  
Fetal Hydrops ◽  
Cardiac Defects ◽  
Live Births ◽  
Situs Ambiguous ◽  
Laterality Defects

AbstractSitus ambiguous comprises of 3% of congenital heart defects and is present in at least 1 in 10,000 live births. Most cases diagnosed prenatally are associated with complex cardiac defects which can be detected by ultrasonography. This is a case report of a fetus presenting with hydrops, which was detected to have situs ambiguous, a complex cardiac defect and multiple laterality defects on autopsy.

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