Objective To evaluate the extent and determinants of missed prenatal detection of congenital heart disease (CHD) in a population-based setting. (OR, 4.3 (95% CI,), presence of extracardiac defects (OR, 2.7 (95% CI,) and ultrasound location i.e. high risk clinic vs clinic (OR, 2.1 (95% CI, Methods )). Defects that would be expected to have an abnormal outflow-tract view were missed more often (64%) than were those that would be expected to have an abnormal four-chamber view (42%). ConclusionThe majority of CHD cases over the 10-year study period were missed prenatally and detection rates did not increase materially during that time. The failure to detect CHD prenatally was related to encounter characteristics, specifically involving screening ultrasound examinations, which may be targeted for improvement.

Background-Ebstein anomaly and tricuspid valve dysplasia are rare congenital tricuspid valve malformations associated with high perinatal mortality. The literature consists of small, single-center case series spanning several decades. We performed a multicenter study to assess the outcomes and factors associated with mortality after fetal diagnosis in the current era. Methods and Results-Fetuses diagnosed with Ebstein anomaly and tricuspid valve dysplasia from 2005 to 2011 wereincluded from 23 centers. The primary outcome was perinatal mortality, defined as fetal demise or death before neonatal discharge. Of 243 fetuses diagnosed at a mean gestational age of 27±6 weeks, there were 11 lost to follow-up (5%), 15 terminations (6%), and 41 demises (17%). In the live-born cohort of 176 live-born patients, 56 (32%) died before discharge, yielding an overall perinatal mortality of 45%. Independent predictors of mortality at the time of diagnosis were gestational age <32 weeks (odds ratio, 8.6; 95% confidence interval, 3.5-21.0; P<0.001), tricuspid valve annulus diameter z-score (odds ratio, 1.3; 95% confidence interval, 1.1-1.5; P<0.001), pulmonary regurgitation (odds ratio, 2.9; 95% confidence interval, 1.4-6.2; P<0.001), and a pericardial effusion (odds ratio, 2.5; 95% confidence interval, 1.1-6.0;© 2015 American Heart Association, Inc.Circulation characterized by apical displacement of the valve or leaflet deformation, respectively. 3 In severe cases of dysplasia, the tricuspid valve orifice may become unguarded. 4,5 Although there is a broad morphologic spectrum, these malformations lead to the same hemodynamic burden, namely, tricuspid regurgitation (TR) and its pathophysiological sequelae. Although older children and adults with EA/TVD may be asymptomatic for years, the diagnosis of EA/TVD in the perinatal period carries a poor prognosis. In the fetus, severe TR may lead to cardiomegaly, hydrops, and arrhythmia, with demise rates as high as 48%.6 Among prenatally diagnosed patients who survive to live birth, hemodynamic instability, cyanosis, and respiratory compromise are common. Although neonatal mortality approached 80 to 85% in early series, 7,8 various single-center series have reported reduced mortality in the past 2 decades, ranging from 17% to 56%. 9-12 Clinical Perspective on p 489Fetal risk factors for perinatal mortality have been identified, including lack of antegrade flow across the pulmonary valve and retrograde duct flow 9-12 and fetal distress. 12However, studies were limited by small sample sizes, with Yu et al 12 reporting the largest series to date with 46 prenatally diagnosed patients. The prognostic value of indices of cardiomegaly, such as the cardiothoracic area (CTA) ratio and the right atrial area index, has been mixed. [9][10][11][12][13] Importantly, hemodynamic factors with potentially important influences on perinatal mortality, such as right ventricular pressure and the presence of pulmonary regurgitation (PR), have not been investigated.Since our understanding of fetuses diagnose...

This study will make an important contribution to the care of patients with hypoplastic left heart syndrome and related forms of single, morphologically right ventricle. It also establishes a model with which other operative interventions for patients with congenital cardiovascular malformations can be evaluated in the future.

Background-Progressive cardiomyopathy is a common cause of death in Duchenne muscular dystrophy (DMD), presumably secondary to fibrosis of the myocardium. The posterobasal and left lateral free wall of the left ventricle (LV) are initial sites of myocardial fibrosis pathologically. The purposes of this study were to assess whether cardiac magnetic resonance imaging (CMRI), utilizing late gadolinium enhancement (LGE), could identify fibrosis in selective areas of the myocardium, and to assess the relationship of the presence and extent of fibrosis to LV function.