Perinatal course of Ebstein's anomaly and tricuspid valve dysplasia in the fetus.

OBJECTIVE: We sought to better define echocardiographic predictors of perinatal mortality in fetuses with Ebstein's anomaly (EA) or tricuspid valve dysplasia (TVD). METHOD: Parameters included measured chamber size, the presence of hydrops, and Doppler recordings of the left ventricular (LV) myocardial performance index (MPI). RESULTS: Between 1 January 2000 and 31 December 2008, 21 fetuses were diagnosed with either EA (17) or TVD (4). Five fetuses were lost to follow-up, and 12 of 16 fetuses were born live (75%). Survivors were found to have smaller right atrial area index scores when compared with non-survivors (1.025 ± 0312 vs 1.502 ± 0.105, respectively, p = 0.013) and were less likely to present with hydrops (0% survivors vs 75% of non-survivors, p < 0.01). LV MPI sub-analysis revealed a shorter combined isovolemic contraction and relaxation time for non-survivors compared wth survivors (46.5 ± 8.2 ms vs 82.3 ± 21.2 ms, respectively, p = 0.004) although no difference was observed for LV ejection times or overall LV MPI between survivors and non-survivors. CONCLUSION: Physiologic analysis of left ventricular function via the LV Tei index and its component measurements demonstrates potentially novel insights into hemodynamic derangements and their association with outcomes in patients with EA/TVD.

Heterotaxy syndrome with functional single ventricle: does prenatal diagnosis improve survival?

BACKGROUND: Despite improved outcome for many single ventricle lesions, staged reconstruction for heterotaxy syndrome with a functional single ventricle continues to have a high mortality. Prenatal identification of heterotaxy syndrome may improve long-term survival. METHODS: Our database was reviewed from January 1996 to December 2004 for patients with heterotaxy syndrome. Assessment was made for prenatal diagnosis and echocardiographic characteristics of heterotaxy syndrome. We sought to assess the accuracy of fetal echocardiography in the diagnosis of heterotaxy syndrome and determine whether prenatal diagnosis and other risk factors have an impact on survival in patients with heterotaxy syndrome. RESULTS: Of 81 patients that met criteria, 43 (53%) had prenatal diagnosis. Prenatal diagnosis had high specificity and positive predictive value for all findings but had low sensitivity for anomalous pulmonary veins. Among the 70 patients born alive, survival was 60% with median follow-up of 51.4 months (range, 6.5 to 109.7 months). Prenatal diagnosis did not improve survival (p = 0.09). None of the 11 patients with complete heart block (CHB) survived past 3 months of age. Two patients underwent heart transplantation as their first intervention and have survived. CHB and anomalous pulmonary venous connection were associated with shorter duration of survival. CONCLUSIONS: Prenatal diagnosis of heterotaxy syndrome does not improve survival in patients who undergo single ventricle reconstruction. The most potent risk factors for poor outcome (CHB, anomalous pulmonary veins) are likely not impacted by identification in utero. In light of the poor outcome, cardiac transplantation as an initial therapy may be a viable option for some patients.

Preliminary investigations into a new method of functional assessment of the fetal heart using a novel application of 'real-time' cardiac magnetic resonance imaging.

OBJECTIVES: Because of quantitative echocardiographic limitations of fetal ventricular volumes as well as poor windows, we sought to determine if real-time magnetic resonance imaging (MRI) could be used. METHODS: Real-time, functional, true fast imaging with steady-state precession, cardiac MRI was performed on 2 fetuses (one with hypoplastic left heart syndrome and one with ductal constriction). Fetal echocardiography was performed and cardiac index by Doppler was used to validate volume measures by MRI. RESULTS: This technique was able to visualize the beating heart and assess ventricular volumes. Cardiac index and assessment of right ventricular hypertrophy and dilation by echocardiography were consistent with the ventricular volumes and right ventricular hypertrophy obtained by cardiac MRI. CONCLUSION: Real-time, functional fetal cardiac MRI is possible and can be used to quantitatively assess ventricular volumes and cardiac index in utero.

Parental decision-making in congenital heart disease.

OBJECTIVE: To explore whether prenatal diagnosis of congenital heart disease is associated with lower levels of parental distress and greater satisfaction with decisions about cardiothoracic surgery when compared to postnatal diagnosis. METHODOLOGY: A combined quantitative-qualitative design was used. Participants included the parents of 31 neonates (30 mothers and 22 fathers) admitted to the cardiac intensive care unit between 1 November 2001 and 1 May 2002 for repair of congenital cardiac malformations. Participants completed self-report measures of anxiety, optimism, and life events pre-operatively, and semi-structured qualitative interviews assessing satisfaction with decision-making within 1 week of the operation. RESULTS: At the time of surgery, mothers of neonates receiving the diagnosis prenatally did not differ from mothers of neonates receiving the diagnosis postnatally on measures of anxiety, optimism, and life events. Fathers of neonates receiving the diagnosis prenatally, however, reported more optimism, lower state and trait anxiety, and fewer negative life events than fathers of neonates receiving the diagnosis postnatally. When we analyzed the interviews, we found that, regardless of the timing of the diagnosis, parents felt as though they made a genuine choice for their baby to have surgery. CONCLUSIONS: In this pilot study, fathers who learned prenatally that their child had a congenital cardiac malformation were less distressed than those who discovered this fact only postnatally. From the parental perspective, nonetheless, distress and urgency do not impair their ability to make decisions about neonatal cardiac surgery.

Influence of congenital heart disease on survival in children with congenital diaphragmatic hernia.

OBJECTIVE: We sought to assess outcome in patients with CDH and HD to determine if LHR is also predictive of outcome in this subset of patients. STUDY DESIGN: We carried out a retrospective review (April 1996-October 2000) of patients with isolated CDH (n = 143, 82.2%) and patients with HD (n = 31, 17.8%) to determine the incidence of additional anomalies, survival to term, CDH repair, cardiac repair, and survival to discharge. Survival based on LHR was analyzed in a subset of fetuses. RESULTS: The risk of death from birth to last follow-up was 2.9 times higher for patients with CDH plus HD than for patients with CDH alone (P <.0001). Of 11 patients with CDH plus HD who had CDH repair (5 of whom also had HD repair), 5 survived. All 10 patients with an LHR <1.2 died; 3 of 6 with an LHR >1.2 survived (Fisher exact test, P =.04). CONCLUSION: Heart disease remains a significant risk factor for death in infants with CDH. The LHR helps predict survival in this high-risk group of patients.