Purpose:
Critical congenital heart defects (CCHD) require surgical and/or transcatheter intervention in infancy. They may or may not have ductal dependent circulation. Timely diagnosis before ductal closure is important to reduce morbidity and mortality. Our goal was to identify factors associated with delayed diagnosis of CCHD.
Methods:
This is a retrospective, population-based, observational study of liveborn infants in Texas born from 2000 - 2009 identified using the Texas Birth Defects Registry (TBDR). Inclusion required a definitive diagnosis of one of 13 selected CCHDs identified by diagnostic code and information on one of three “diagnostic” procedures: prenatal or postnatal echocardiogram or autopsy. Cases with aortic or pulmonary stenosis, coarctation of aorta, tricuspid stenosis or Ebsteins anomaly were included only if they underwent a cardiac surgical or catheterization procedure within 6 weeks of life. Stillborn infants or that died within three days of life (DOL) without evidence of an echocardiogram procedure were excluded. Date of diagnosis was defined as date of first echocardiogram. “Delayed diagnosis” was defined as any date of diagnosis after DOL3. Eligible infants with autopsy as the only “diagnostic” procedure were also classified as “delayed diagnosis”. Logistic regression models were created to identify factors that influence diagnosis delay.
Results:
A total of 5895 CCHD cases were identified. Diagnosis was delayed in 25% of cases. The CCHDs with highest rates of delayed diagnosis were critical coarctation (34%) and TAPVR (32%). In multivariate analysis, delayed diagnosis was more likely to be associated with single CCHD [adjusted odds ratio (aOR) 1.9; 95% CI 1.5-2.4], low maternal education [aOR1.7; 95% CI 1.2-2.3], prematurity <32wks [aOR 1.6; 95% CI 1.21-2.26], and rural maternal residence [aOR 1.5; 95% CI 1.22-1.94]. Presence of noncardiac defects decreased delayed diagnosis only for a few CCHD phenotypes.
Conclusions:
A quarter of all births with CCHD have a delayed diagnosis in Texas. Maternal education and residence are associated with the delay. Future studies will have to investigate each CCHD phenotype for specific risk factors.
Procedural factors associated with early postoperative arrhythmias after repair of congenital heart defects