Fetal echocardiogram versus four-chamber/left ventricular outflow tract views in screening for fetal congenital heart disease in high-risk patients: a retrospective review

ABSTRACTCongenital heart disease is the most common birth defect in newborns and the leading cause of death in infancy, affecting nearly 1% of live births. A locus in chromosome 4p16, adjacent to MSX1 and STX18, has been associated with atrial septal defects (ASD) in multiple European and Chinese cohorts. Here, genotyping data from the UK Biobank was used to test for associations between this locus and congenital heart disease in adult survivors of left ventricular outflow tract obstruction (n=164) and ASD (n=223), with a control sample of 332,788 individuals, and a meta-analysis of the new and existing ASD data was performed.The results show an association between the previously reported markers at 4p16 and risk for either ASD or left ventricular outflow tract obstruction, with effect sizes similar to the published data (OR between 1.27-1.45; all p<0.05). Differences in allele frequencies remained constant through the studied age range (40-70 years), indicating that the variants themselves do not drive lethal genetic defects. Meta-analysis shows an OR of 1.35 (95% CI: 1.25-1.46; p<10−4) for the association with ASD.The findings show that the genetic associations with ASD can be generalized to adult survivors of both ASD and left ventricular lesions. Although the 4p16 associations are statistically compelling, the mentioned alleles confer only a small risk for disease and their frequencies in this adult sample are the same as in children, likely limiting their clinical significance. Further epidemiological and functional studies may elicit factors triggering disease in interaction with the risk alleles.

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Association between the 4p16 genomic locus and different types of congenital heart disease: results from adult survivors in the UK Biobank

Scientific Reports ◽

10.1038/s41598-019-52969-x ◽

2019 ◽

Vol 9 (1) ◽

Cited By ~ 1

Author(s):

Aldo Córdova-Palomera ◽

James R. Priest

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

Left Ventricular Outflow Tract ◽

Meta Analysis ◽

Adult Survivors ◽

Ventricular Outflow Tract ◽

Left Ventricular ◽

Left Ventricular Outflow ◽

The Uk

Abstract Congenital heart disease is the most common birth defect in newborns and the leading cause of death in infancy, affecting nearly 1% of live births. A locus in chromosome 4p16, adjacent to MSX1 and STX18, has been associated with atrial septal defects (ASD) in multiple European and Chinese cohorts. Here, genotyping data from the UK Biobank was used to test for associations between this locus and congenital heart disease in adult survivors of left ventricular outflow tract obstruction (n = 164) and ASD (n = 223), with a control sample of 332,788 individuals, and a meta-analysis of the new and existing ASD data was performed. The results show an association between the previously reported markers at 4p16 and risk for either ASD or left ventricular outflow tract obstruction, with effect sizes similar to the published data (OR between 1.27–1.45; all p < 0.05). Differences in allele frequencies remained constant through the studied age range (40–70 years), indicating that the variants themselves do not drive lethal genetic defects. Meta-analysis shows an OR of 1.35 (95% CI: 1.25–1.46; p < 10−4) for the association with ASD. The findings show that the genetic associations with ASD can be generalized to adult survivors of both ASD and left ventricular lesions. Although the 4p16 associations are statistically compelling, the mentioned alleles confer only a small risk for disease and their frequencies in this adult sample are the same as in children, likely limiting their clinical significance. Further epidemiological and functional studies may elicit factors triggering disease in interaction with the risk alleles.

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Concomitant Aortic Root Replacement With Anterior Konno Annular Enlargement

World Journal for Pediatric and Congenital Heart Surgery ◽

10.1177/2150135120929013 ◽

2020 ◽

Vol 11 (5) ◽

pp. 630-635

Author(s):

Brian E. Kogon

Keyword(s):

Congenital Heart Disease ◽

Aortic Root ◽

Congenital Heart ◽

Left Ventricular Outflow Tract ◽

Ventricular Outflow Tract ◽

Left Ventricular ◽

Valve Surgery ◽

Aortic Root Replacement ◽

Aortic Valve Surgery ◽

Left Ventricular Outflow

The need for concomitant aortic annular enlargement and aortic root replacement may be necessary in situations of multilevel left ventricular outflow tract obstruction and/or prior aortic or aortic valve surgery, particularly in the setting of congenital heart disease. It can be extremely tedious and fraught with numerous complications. Major challenges include bleeding in difficult-to-reach areas and the potential need for subsequent operations. This article describes a technique of concomitant aortic annular enlargement and aortic root replacement that minimizes the risk of significant blood loss and facilitates future surgery should it be necessary.

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Pattern of symptomatic congenital heart disease among oriental neonates—a decade's experience

Cardiology in the Young ◽

10.1017/s1047951100003917 ◽

1996 ◽

Vol 6 (4) ◽

pp. 291-297 ◽

Cited By ~ 3

Author(s):

Maurice P. Leung ◽

T. C. Yung ◽

Y. K. Ng ◽

K. Y. Wong ◽

S. L. Lee ◽

...

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

Pulmonary Atresia ◽

Ventricular Outflow Tract ◽

Left Ventricular ◽

Outflow Tract ◽

Complete Transposition ◽

Congenital Heart Malformations ◽

Left Ventricular Outflow

AbstractBetween 1981 and 1990, 765 symptomatic neonates with major congenital heart malformations were admitted into the Grantham Hospital. This represented an incidence of 10 per 10,000 live births for Hong Kong. The figure was comparable to those reported for Caucasians. Among the 744 Oriental neonates, obstruction of the pulmonary outflow tract occurred most frequently (281, 37.8%), followed by left ventricular outflow tract obstruction (169, 22.7%), left-to-right shunting (115, 15.5%), complete transposition (92, 12.4%), common mixing situations (62,8.3%), and miscellaneous causes (25, 3.3%). When compared with the available reports from the West, Chinese neonates had a high preference for pulmonary outflow tract obstruction (p<0.005), especially the anomaly of pulmonary atresia and intact ventricular septum. This correlated well with cyanosis as the commonest neonatal presentation (64%). Contrary to previous reports that aortic coarctation was rare among Orientals, this abnormality was observed frequently in our study. The rare occurrence of critical aortic valvar stenosis among Chinese, however, was supported by our present analysis. Other lesions, such as left-to-right shunting and complete transposition, showed no significant racial difference in the frequency of occurrence. Such knowledge concerning the pattern of congenital heart disease amongst Oriental neonates can facilitate early diagnosis and timely referral of babies to the appropriate center for management.

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Congenital Heart Disease Considerations

The Pediatric Procedural Sedation Handbook ◽

10.1093/med/9780190659110.003.0009 ◽

2018 ◽

pp. 54-60

Author(s):

Feifei Z. Williams ◽

Michael J. Wolf

Keyword(s):

Congenital Heart Disease ◽

Heart Disease ◽

Congenital Heart ◽

Patient Characteristics ◽

Ventricular Outflow Tract ◽

Left Ventricular ◽

Increased Risk ◽

Surgical History ◽

Left Ventricular Outflow ◽

Left Heart Syndrome

Children with congenital heart disease (CHD) are at an increased risk for sedation-related complications. The number of these patients with unrepaired or palliated disease requiring procedural sedation outside of the operating room continues to increase as staged surgeries and techniques are associated with better survival. CHD patient characteristics associated with the highest risk of sedation-related complications include age less than 2 years; single-ventricle physiology, including hypoplastic left heart syndrome; left ventricular outflow tract obstruction; cardiomyopathy with impaired ventricular function; and pulmonary hypertension. Before sedating a child with CHD, providers must recognize the anatomic variations, surgical history, and physiologic implications for each individual patient. An understanding of the hemodynamic principles involved in managing intracardiac shunts is essential. Commonly used sedation medications in patients with CHD and their potential adverse effects are discussed, as well as presedation and postsedation considerations.

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