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Archives of Disease in Childhood Dec 1936
PubMed: 21032046
DOI: 10.1136/adc.11.66.275 -
The Journal of Pediatrics Jan 2022To assess associations between maternal smoking and congenital heart defects (CHDs) in offspring.
OBJECTIVES
To assess associations between maternal smoking and congenital heart defects (CHDs) in offspring.
STUDY DESIGN
We performed a retrospective case-control study using data for cases of CHD (n = 8339) and nonmalformed controls (n = 11 020) from all years (1997-2011) of the National Birth Defects Prevention Study. Maternal self-reported smoking 1 month before through 3 months after conception was evaluated as a binary (none, any) and categorical (light, medium, heavy) exposure. Multivariable logistic regression was used to estimate aOR and 95% CIs. Stratified analyses were performed for septal defects according to maternal age, prepregnancy body mass index, and maternal race/ethnicity.
RESULTS
Multiple CHDs displayed modest associations with any level of maternal periconceptional smoking independent of potential confounders; the strongest associations were for aggregated septal defects (OR, 1.5; 95% CI, 1.3-1.7), tricuspid atresia (OR, 1.7; 95% CI, 1.0-2.7), and double outlet right ventricle (DORV) (OR, 1.5; 95% CI, 1.1-2.1). Tricuspid atresia and DORV also displayed dose-response relationships. Among heavy smokers, the highest odds were again observed for tricuspid atresia (aOR 3.0; 95% CI, 1.5-6.1) and DORV (aOR 1.5; 95% CI, 1.1-2.2). Heavy smokers ≥35 years old more frequently had a child with a septal defect when compared with similarly aged nonsmokers (aOR 2.3; 95% CI, 1.4-3.9).
CONCLUSIONS
Maternal periconceptional smoking is most strongly associated with septal defects, tricuspid atresia, and DORV; the risk for septal defects is modified by maternal age.
Topics: Adult; Aged; Cannabis; Case-Control Studies; Child; Female; Heart Defects, Congenital; Humans; Infant; Pregnancy; Prenatal Exposure Delayed Effects; Retrospective Studies; Risk Assessment; Risk Factors; Smoking
PubMed: 34508749
DOI: 10.1016/j.jpeds.2021.09.005 -
Hellenic Journal of Cardiology : HJC =... 2009
Review
Topics: Fontan Procedure; Heart Ventricles; Humans; Treatment Outcome; Tricuspid Atresia
PubMed: 19329415
DOI: No ID Found -
Ultrasound in Obstetrics & Gynecology :... Feb 2010To evaluate the intrauterine course and outcome of tricuspid atresia detected in the fetus.
OBJECTIVE
To evaluate the intrauterine course and outcome of tricuspid atresia detected in the fetus.
METHODS
This was a retrospective review of all confirmed cases of tricuspid atresia detected prenatally between 1998 and 2006 in three tertiary referral centers in Germany.
RESULTS
Fifty-four cases of tricuspid atresia were detected prenatally during the study period and confirmed postnatally: 28 (51.9%) cases had a concordant ventriculoarterial connection of which 14 also had pulmonary outflow obstruction; 25 (46.3%) cases had a discordant ventriculoarterial connection of which 14 also had aortic outflow obstruction, six had pulmonary outflow tract obstruction and two had other associated intracardiac anomalies; and one (1.9%) had a common arterial trunk. The peak velocity index for veins in the ductus venosus was significantly elevated in 19 of the 37 (51.4%) cases assessed; however, this finding did not correlate with adverse intrauterine outcome. There were associated extracardiac anomalies in 12 cases: five with chromosomal anomalies, two with VACTERL association, one with unilateral renal agenesis, one with hypospadia, one with hydrothorax, one with megacystis and one with agenesis of the ductus venosus. Seventeen of the 54 (31.5%) cases underwent termination of pregnancy, two (3.7%) died in utero, two (3.7%) died in infancy and 33 (61.1%) children survived with a median follow-up of 26 (range, 12-120) months. Prenatal echocardiography correctly anticipated the postnatal course and the need for neonatal intervention in 29/35 (82.9%) continued pregnancies; in the remaining six (17.1%) cases the right outflow tract obstruction had been underestimated.
CONCLUSIONS
Tricuspid atresia and the frequently associated intracardiac anomalies can be diagnosed in the fetus with considerable accuracy. A thorough search for extracardiac malformations should be performed in order to rule out chromosomal anomalies and multiple malformation syndromes. Elevated pulsatility in the ductus venosus does not indicate cardiac failure. The short-term overall survival in continued pregnancies in our study exceeded 89%, with the greatest rate of loss being in the first year of postnatal life.
Topics: Abnormalities, Multiple; Abortion, Induced; Female; Fetal Diseases; Fetal Heart; Germany; Gestational Age; Humans; Infant, Newborn; Male; Pregnancy; Pregnancy Outcome; Retrospective Studies; Tricuspid Atresia; Ultrasonography, Prenatal
PubMed: 20101636
DOI: 10.1002/uog.7499 -
Journal of Interventional Medicine Nov 2022This study aimed to analyze and evaluate the results of mid-term follow-up after fetal pulmonary valvuloplasty (FPV) in fetuses with pulmonary atresia with intact...
OBJECTIVE
This study aimed to analyze and evaluate the results of mid-term follow-up after fetal pulmonary valvuloplasty (FPV) in fetuses with pulmonary atresia with intact ventricular septum (PA/IVS).
METHODS
From August 31, 2018, to May 31, 2019, seven fetuses with PA/IVS and hypoplastic right heart were included in this study. All underwent echocardiography by the same specialist and were operated on by the same team. Intervention and echocardiography data were collected, and changes in the associated indices noted during follow-up were analyzed.
RESULTS
All seven fetuses successfully underwent FPV. The median gestational age at FPV was 27.54 weeks. The average FPV procedural time was 6 min. Persistent bradycardia requiring treatment occurred in 4/7 procedures. Finally, five pregnancies were successfully delivered, and the other two were aborted. Compared to data before fetal cardiac interventions (FCI), tricuspid valve annulus diameter/mitral valve annulus diameter (TV/MV) and right ventricle diameter/left ventricle diameter (RV/LV) of all fetuses had progressively improved. The maximum tricuspid regurgitation velocity decreased from 4.60 m/s to 3.64 m/s. The average follow-up time was 30.40 ± 2.05 months. During the follow-up period, the diameter of the tricuspid valve ring in five children continued to improve, and the development rate of the tricuspid valve was relatively obvious from 6 months to 1 year after birth. However, the development of the right ventricle after birth was relatively slow. It was discovered that there were individual variations in the development of the right ventricle during follow-up.
CONCLUSION
The findings support the potential for the development of the right ventricle and tricuspid valve in fetuses with PA/IVS who underwent FCI. Development of the right ventricle and tricuspid valve does not occur synchronously during pregnancy. The right ventricle develops rapidly in utero, but the development of tricuspid valve is more apparent after birth than in utero.
PubMed: 36532311
DOI: 10.1016/j.jimed.2022.04.001 -
Frontiers in Cardiovascular Medicine 2022Pulmonary atresia (PA) is a heterogeneous congenital heart defect and ventricular septal defect (VSD) is the most vital factor for the conventional classification of PA...
BACKGROUND
Pulmonary atresia (PA) is a heterogeneous congenital heart defect and ventricular septal defect (VSD) is the most vital factor for the conventional classification of PA patients. The simple dichotomy could not fully describe the cardiac morphologies and pathophysiology in such a complex disease. We utilized the Human Phenotype Ontology (HPO) database to explore the phenotypic patterns of PA and the phenotypic influence on prognosis.
METHODS
We recruited 786 patients with diagnoses of PA between 2008 and 2016 at Fuwai Hospital. According to cardiovascular phenotypes of patients, we retrieved 52 HPO terms for further analyses. The patients were classified into three clusters based on unsupervised hierarchical clustering. We used Kaplan-Meier curves to estimate survival, the log-rank test to compare survival between clusters, and univariate and multivariate Cox proportional hazards regression modeling to investigate potential risk factors.
RESULTS
According to HPO term distribution, we observed significant differences of morphological abnormalities in 3 clusters. We defined cluster 1 as being associated with Tetralogy of Fallot (TOF), VSD, right ventricular hypertrophy (RVH), and aortopulmonary collateral arteries (ACA). ACA was not included in the cluster classification because it was not an HPO term. Cluster 2 was associated with hypoplastic right heart (HRH), atrial septal defect (ASD) and tricuspid disease as the main morphological abnormalities. Cluster 3 presented higher frequency of single ventricle (SV), dextrocardia, and common atrium (CA). The mortality rate in cluster 1 was significantly lower than the rates in cluster 2 and 3 ( = 0.04). Multivariable analysis revealed that abnormal atrioventricular connection (AAC, = 0.011) and persistent left superior vena cava (LSVC, = 0.003) were associated with an increased risk of mortality.
CONCLUSIONS
Our study reported a large cohort with clinical phenotypic, surgical strategy and long time follow-up. In addition, we provided a precise classification and successfully risk stratification for patients with PA.
PubMed: 35966552
DOI: 10.3389/fcvm.2022.898289 -
Chinese Medical Journal Sep 2019In recent years, attempting the biventricular pathway or biventricular conversions in patients with borderline ventricle has become a hot topic. However, inappropriate... (Review)
Review
OBJECTIVE
In recent years, attempting the biventricular pathway or biventricular conversions in patients with borderline ventricle has become a hot topic. However, inappropriate pursuit of biventricular repair in borderline candidates will lead to adverse clinical outcomes. Therefore, it is important to accurately assess the degree of ventricular development before operation and whether it can tolerate biventricular repair. This review evaluated ventricular development using echocardiography for a better prediction of biventricular repair in borderline ventricle.
DATA SOURCES
Articles from January 1, 1990 to April 1, 2019 on biventricular repair in borderline ventricle were accessed from PubMed, using keywords including "borderline ventricle," "congenital heart disease," "CHD," "echocardiography," and "biventricular repair."
STUDY SELECTION
Original articles and critical reviews relevant to the review's theme were selected.
RESULTS
Borderline left ventricle (LV): (1) Critical aortic stenosis: the Rhodes score, Congenital Heart Surgeons Society regression equation and another new scoring system was proposed to predict the feasibility of biventricular repair. (2) Aortic arch hypoplasia: the LV size and the diameter of aortic and mitral valve (MV) annulus should be taken into considerations for biventricular repair. (3) Right-dominant unbalanced atrioventricular septal defect (AVSD): atrioventricular valve index (AVVI), left ventricular inflow index (LVII), and right ventricle (RV)/LV inflow angle were the echocardiographic indices for biventricular repair. Borderline RV: (1) pulmonary atresia/intact ventricular septum (PA/IVS): the diameter z-score of tricuspid valve (TV) annulus, ratio of TV to MV diameter, RV inlet length z-score, RV area z-score, RV development index, and RV-TV index, etc. Less objective but more practical description is to classify the RV as tripartite, bipartite, and unipartite. The presence or absence of RV sinusoids, RV dependent coronary circulation, and the degree of tricuspid regurgitation should also be noted. (2) Left-dominant unbalanced AVSD: AVVI, LV, and RV volumes, whether apex forming ventricles were the echocardiographic indices for biventricular repair.
CONCLUSIONS
Although the evaluation of echocardiography cannot guarantee the success of biventricular repair surgery, echocardiography can still provide relatively valuable basis for surgical decision making.
Topics: Echocardiography; Heart Defects, Congenital; Heart Ventricles; Hemodynamics; Humans
PubMed: 31348032
DOI: 10.1097/CM9.0000000000000375 -
Molecular Genetics & Genomic Medicine Sep 2021Cardiac valvulogenesis is a highly conserved process among vertebrates and cause unidirectional flow of blood in the heart. It was precisely regulated by signal pathways...
BACKGROUND
Cardiac valvulogenesis is a highly conserved process among vertebrates and cause unidirectional flow of blood in the heart. It was precisely regulated by signal pathways such as VEGF, NOTCH, and WNT and transcriptional factors such as TWIST1, TBX20, NFATC1, and SOX9. Tricuspid atresia refers to morphological deficiency of the valve and confined right atrioventricular traffic due to tricuspid maldevelopment, and is one of the most common types of congenital valve defects.
METHODS
We recruited a healthy couple with two fetuses aborted due to tricuspid atresia and identified related gene mutations using whole-exome sequencing. We then discussed the pathogenic significance of this mutation by bioinformatic and functional analyses.
RESULTS
PROVEAN, PolyPhen, MutationTaster, and HOPE indicated the mutation could change the protein function and cause disease; Western blotting showed the expression of NFATC1 c.964G>A mutation was lower than the wild type. What's more, dual-luciferase reporter assay showed the transcriptional activity of NFATC1 was impact by mutation and the expression of downstream DEGS1 was influenced.
CONCLUSION
Taken together, the c.964G>A mutation might be pathological and related to the occurrence of disease. Our research tended to deepen the understanding of etiology of tricuspid atresia and gene function of NFATC1, and provide some references or suggestions for genetic diagnosis of tricuspid atresia.
Topics: Aborted Fetus; Adult; Animals; Cell Line; Cells, Cultured; Fatty Acid Desaturases; Female; Humans; Male; Mice; Mutation; NFATC Transcription Factors; Pedigree; Protein Domains; Tricuspid Atresia
PubMed: 34363434
DOI: 10.1002/mgg3.1771 -
The Keio Journal of Medicine Jun 2019Congenital heart disease (CHD) is the most common birth defect, affecting 1 in 100 babies. Among CHDs, single ventricle (SV) physiologies, such as hypoplastic left heart... (Review)
Review
Congenital heart disease (CHD) is the most common birth defect, affecting 1 in 100 babies. Among CHDs, single ventricle (SV) physiologies, such as hypoplastic left heart syndrome and tricuspid atresia, are particularly severe conditions that require multiple palliative surgeries, including the Fontan procedure. Although the management strategies for SV patients have markedly improved, the prevalence of ventricular dysfunction continues to increase over time, especially after the Fontan procedure. At present, the final treatment for SV patients who develop heart failure is heart transplantation; however, transplantation is difficult to achieve because of severe donor shortages. Recently, various regenerative therapies for heart failure have been developed that increase cardiomyocytes and restore cardiac function, with promising results in adults. The clinical application of various forms of regenerative medicine for CHD patients with heart failure is highly anticipated, and the latest research in this field is reviewed here. In addition, regenerative therapy is important for children with CHD because of their natural growth. The ideal pediatric cardiovascular device would have the potential to adapt to a child's growth. Therefore, if a device that increases in size in accordance with the patient's growth could be developed using regenerative medicine, it would be highly beneficial. This review provides an overview of the available regenerative technologies for CHD patients.
Topics: Blood Vessel Prosthesis; Cell- and Tissue-Based Therapy; Fontan Procedure; Heart Failure; Heart Transplantation; Heart Valve Prosthesis; Heart-Assist Devices; Humans; Hypoplastic Left Heart Syndrome; Regenerative Medicine; Tricuspid Atresia
PubMed: 29925723
DOI: 10.2302/kjm.2018-0002-IR -
The Journal of Thoracic and... Nov 2018
Topics: Fontan Procedure; Heart-Assist Devices; Humans; Tricuspid Atresia
PubMed: 30336923
DOI: 10.1016/j.jtcvs.2018.08.060