Epidemiology of Ebstein anomaly: Prevalence and patterns in Texas, 1999–2005

Lupo, Philip J.; Langlois, Peter H.; Mitchell, Laura E.

doi:10.1002/ajmg.a.33883

Cited by 59 publications

(46 citation statements)

References 41 publications

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“…Alternatively strain background effects may be a contributing factor. Various clinical and animal model studies have indicated a genetic etiology for Ebstein’s anomaly 21 , but this CHD also has been linked to environmental exposures 22 , suggesting possible involvement of genetic and environmental factors.…”

Section: Discussionmentioning

confidence: 99%

Interrogating Congenital Heart Defects With Noninvasive Fetal Echocardiography in a Mouse Forward Genetic Screen

Liu

Francis

Kim

et al. 2014

Circ: Cardiovascular Imaging

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Background Congenital heart disease (CHD) has a multifactorial etiology, but a genetic contribution is indicated by heritability studies. To investigate the spectrum of CHD with a genetic etiology, we conducted a forward genetic screen in inbred mice using fetal echocardiography to recover mutants with CHD. Mice are ideally suited for these studies, given they have the same four-chamber cardiac anatomy that is the substrate for CHD. Methods and Results Ethylnitrosourea mutagenized mice were ultrasound interrogated by fetal echocardiography using a clinical ultrasound system, and fetuses suspected to have cardiac abnormalities were further interrogated with an ultra-high frequency ultrasound biomicroscopy (UBM). Scanning of 46,270 fetuses revealed 1,722 with cardiac anomalies, with 27.9% dying prenatally. Most of the structural heart defects can be diagnosed using the UBM, but not with the clinical ultrasound system. Confirmation with analysis by necropsy and histopathology showed excellent diagnostic capability of UBM for most CHD. Ventricular septal defect was the most common CHD observed, while outflow tract and atrioventricular septal defects were the most prevalent complex CHD. Cardiac/visceral organ situs defects were observed at surprisingly high incidence. The rarest CHD found was hypoplastic left heart syndrome (HLHS), a phenotype never seen in mice previously. Conclusions We developed a high throughput two-tier ultrasound phenotyping strategy for efficient recovery of even rare CHD phenotypes, including the first mouse models of HLHS. Our findings support a genetic etiology for a wide spectrum of CHD and suggest the disruption of left-right patterning may play an important role in CHD.

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Section: Discussionmentioning

confidence: 99%

Interrogating Congenital Heart Defects With Noninvasive Fetal Echocardiography in a Mouse Forward Genetic Screen

Liu

Francis

Kim

et al. 2014

Circ: Cardiovascular Imaging

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“…However, few studies have compared risk factors for diseases and mortality by border location. The few that have been conducted have focused on alcohol and drug abuse (Vaeth et al 2012; Shah et al 2012; Caetano et al 2012), birth defects (Lupo et al 2011), diabetes outcomes (Mier et al 2010), cancer screening (Fernández and Morales, 2007), and infectious disease risk (Pérez et al 2006). Moreover, most of these studies have made comparisons between cities or specific areas of the border/non-border, thereby failing to make the regional comparisons needed to best understand this dynamic.…”

Section: Introductionmentioning

confidence: 99%

Border Health in the Shadow of the Hispanic Paradox: Issues in the Conceptualization of Health Disparities in Older Mexican Americans Living in the Southwest

Salinas

snih

2013

J Cross Cult Gerontol

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Mexican Americans have demonstrated lower than what would be expected mortality rates and disease prevalence, given their overrepresentation among those living in poverty. However, Mexican Americans living along the US-Mexico border have been documented as carrying a higher burden of disease and disability that seems to contradict or at least challenge evidence in support of a “Hispanic Paradox”. The purpose of this paper is to evaluate the concept of border health as it relates to the conceptualization and measurement of health outcomes in older Mexican Americans living in the Southwest United States. Data for this study comes from the Hispanic Established Populations for the Epidemiologic Studies of the Elderly (Hispanic EPESE) wave 1 and mortality files up to wave 5. Border residence was determined using La Paz Agreement county and distance from a port of entry classifications. Statistical analysis was conducted to assess border versus non-border differences in cause of death, disability, disease prevalence and premature mortality. Adjusted regression models were used to predict cause of death, disability and disease-free life expectancy and premature mortality (i.e. occurring before life expectancy). Interaction models between border/non-border and median income were also performed. Finally, distance from the US-Mexico border was used to determine the effect of distance to the US-Mexico border in border-residing participants. The findings from this study indicate that participants in the HEPESE were more likely to be alive at Wave 5 if they resided in a border county, however more likely to transition into ADL disability status. These findings were not explained by behaviors, duration in the US or sociocultural characteristics of where they lived. Additionally, Hispanic EPESE subjects that lived in the border region were more likely to have died from old age and were less likely to be lost to follow up. Interaction models revealed significant effects for diabetes as a cause of death. Moreover, distance from a US-Mexico port of entry was significant for being alive at wave 5 for border-residing participants. Relative to non-border residing participants, border residing Mexican Americans in the Hispanic EPESE did not carry a uniformly higher burden of disease, however had a significantly greater odds of 10 year survival. These findings bring up issues of measurement and the importance of geographic location when it comes to evaluating disease burden and mortality in Mexican Americans.

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“…Various scholarly works followed until the 1950s when Soloff, Stauffer and Zatuchni made the first pathologically confirmed clinical diagnosis of the anomaly. [7][8][9] Clinical Features: The clinical features of Ebstein's anomaly vary depending upon the severity of the disease and the presence of associated abnormalities. [3][4][5] This accounts for less than 1% of all cases of congenital heart disease, but about 40% of congenital heart disease involving the tricuspid valve.…”

mentioning

confidence: 99%

“…6 There is no predilection for gender, race, or ethnicity. [7][8][9] Clinical Features: The clinical features of Ebstein's anomaly vary depending upon the severity of the disease and the presence of associated abnormalities. The classical findings include right heart failure, arrhythmia, cyanosis, and sudden cardiac death.…”

mentioning

confidence: 99%

Echocardiographic Assessment of Ebstein's Anomaly

Booker

Nanda

2014

Echocardiography

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Ebstein's anomaly is a complex congenital lesion which primarily involves the tricuspid valve. The tricuspid leaflets are tethered to varying degrees to the right ventricular free wall and the ventricular septum often resulting in significant tricuspid regurgitation and a small functioning right ventricular chamber. Although the septal leaflet originates normally at the right atrioventricular junction, the proximal portion is often completely tethered to the ventricular septum resulting in a misconception and erroneous statements in many publications that its attachment is apically displaced. Although two-dimensional echocardiography represents the primary modality for the diagnosis of this anomaly, three-dimensional echocardiography provides incremental value in characterizing the extent and severity of tethering of individual tricuspid valve leaflets. This information is useful in surgical decision making whether to repair or replace the tricuspid valve.

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Epidemiology of Ebstein anomaly: Prevalence and patterns in Texas, 1999–2005

Cited by 59 publications

References 41 publications

Interrogating Congenital Heart Defects With Noninvasive Fetal Echocardiography in a Mouse Forward Genetic Screen

Interrogating Congenital Heart Defects With Noninvasive Fetal Echocardiography in a Mouse Forward Genetic Screen

Border Health in the Shadow of the Hispanic Paradox: Issues in the Conceptualization of Health Disparities in Older Mexican Americans Living in the Southwest

Echocardiographic Assessment of Ebstein's Anomaly

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