Descriptive Epidemiology of Non‐syndromic Complete Atrioventricular Canal Defects

Abstract

Background Complete atrioventricular canal defects (CAVC) are a common heart defect, but few epidemiologic studies have evaluated nonsyndromic CAVC. Risk factors for nonsyndromic CAVC have not been well established. Methods To assess the relationship between risk for nonsyndromic CAVC in offspring and several sociodemographic and reproductive parental factors, including maternal diabetes and obesity, we conducted Poisson regression analyses, using data ascertained through the Texas Birth Defects Registry, a large, population-based birth defects registry. Data were evaluated for 563 nonsyndromic cases with CAVC. Results Significant associations were observed between nonsyndromic CAVC in offspring and maternal pregestational diabetes (adjusted prevalence ratio (aPR): 6.74, 95% confidence interval (CI): 3.67–12.37), gestational diabetes [aPR: 1.69, 95% CI: 1.03, 2.79], and obesity [aPR: 1.69, 95% CI: 1.24, 2.30]. Comments Our findings add nonsyndromic CAVC to the growing list of birth defects that appear to be associated with maternal diabetes and obesity.

Isolated atrioventricular canal defects: Birth outcomes and risk factors: A population‐based hungarian case–control study, 1980–1996

“…In our study, AVCD cases had female excess (59.7%) in agreement with two previous studies (Ferencz et al, : 55.7%; Hartman et al, : 52.2%); however, our result is in contradiction with a study performed by Agopian et al (), who found 48.8% affected female, the cases not deviating significantly from the sex ratio of the newborn population. There was a somewhat higher rate of multiple pregnancies (4.4% vs. 2.9%) in cases than in total livebirths in the Texas Birth Defects Registry (Agopian et al, ), the twin rate was also somewhat higher in our study (2.6% vs. 1.1%).…”

“…The focus of previous studies was mainly different pathological anatomic structures, clinical manifestations, medical—primarily surgical—managements and survival of patients with AVCD (Machado et al, ; Carmi et al, ; Ferencz et al, ; Sadeghi et al, ; Digilio et al, ; Huggon et al, ; Frid et al, ; Tanner et al, ; Craig, 2006; Miller et al, ). Only three previous studies had similar objectives, however, the Baltimore‐Washington Infant Study evaluated 88 “nonchromosomal” cases including AVCD cases and AVCD combined with other CAs in unidentified multiple CAs (Ferencz et al, ), the National Birth Defects Prevention Study evaluated 302 cases with nonsyndromic AVCD and AVCD with additional major CA (Hartman et al, ) and the Texas Birth Defects Registry included 563 nonsyndromic cases but 516 cases had additional cardiac or noncardiac CAs and only 47 cases were affected with isolated AVCD (Agopian et al, ). Our study was based strictly on cases with verified isolated AVCD including only endocardial cushion defects without the presence of any other CHD.…”

“…AVCD is characterized by CAs in isolation or combination including an atrial septal defect in the lower most part of the atrial septum (ostium primum), a cleft of the mitral valve (either alone or in combination with a cleft of tricuspid valve), or ventricular septal defect (Fulton, ). AVCD occurs in about 3% of infants with CHD (Agopian et al, ), however, over half of patients had Down syndrome (Czeizel, ). Our study included only isolated AVCD cases and the diagnosis of AVCD was based on autopsy report in lethal outcome or medical records after surgical correction.…”

Diabetes and Congenital Heart Defects

“…After exclusions, 12 studies contributed to the meta-analysis for all CHDs, 5,6,8,10,30 –37 and three to five studies contributed data to the meta-analysis for the five individual CHDs assessed (Appendix Table 1, available online; Figure 1). 5,6,8–10,38 …”

Effect of Maternal Cardiovascular Conditions and Risk Factors on Offspring Cardiovascular Disease

“…4 Finally, both maternal diabetes and obesity are associated with complete atrioventricular canal defects. 5 …”