Ventriculocoronary fistulae in a patient with transposition of the great arteries, hypoplastic left heart, and pulmonary atresia.

We present a rare case of ventriculocoronary fistulae in a patient with d-transposition of the great arteries, hypoplastic left heart, and pulmonary atresia. To our knowledge, this is the first report of this anatomic variant, and raises an important discussion about the development and implications of such fistulous connections.

Prenatal diagnosis of congenital heart disease and birth outcomes.

This study was undertaken to examine the impact that prenatal diagnosis of congenital heart disease (CHD) has on birth and early neonatal outcomes. The prevalence of prenatally diagnosed CHD has risen over the past decade, but the effect that prenatal diagnosis of CHD has on peripartum decisions remains unclear. No consensus exists on the effect of prenatal diagnosis on neonatal outcomes. Between January 2004 and July 2009, a retrospective chart review of all neonates with CHD admitted to our institution's neonatal intensive care unit was conducted. Obstetric and postnatal variables were collected. Among the 993 subjects, 678 (68.3%) had a prenatal diagnosis. A prenatal diagnosis increased the odds of a scheduled delivery [odds ratio (OR) 4.1, 95% confidence interval (CI) 3.0-5.6] and induction of labor (OR 11.5, 95% CI 6.6-20.1). Prenatal diagnosis was not significantly associated with cesarean delivery when control was used for maternal age, multiple gestation, and presence of extracardiac anomaly. Mean gestational age had no impact on prenatal diagnosis, but prenatal diagnosis was associated with increased odds of delivery before a gestational age of 39 weeks (OR 1.5, 95% CI 1.1-1.9) and decreased odds of preoperative intubation (OR 0.5, 95% CI 0.3-0.6). Prenatal diagnosis did not have an impact on preoperative or predischarge mortality. Prenatal diagnosis was associated with increased odds of a scheduled delivery, birth before a gestational age of 39 weeks, and a decreased need for invasive respiratory support. Prenatal diagnosis of CHD was not associated with preoperative or predischarge mortality.

Symptomatic myocardial bridges in children: a case report with review of literature.

Myocardial bridge is a rare congenital coronary anomaly in children, usually seen in the setting of hypertrophic cardiomyopathy and in left ventricular hypertrophy. Most myocardial bridges are believed to represent a benign anatomical variant; however, symptomatic myocardial bridge is a distinct subgroup of pathological variant, linked to myocardial ischaemia, ventricular arrhythmia, and sudden cardiac death. We present a case of a symptomatic myocardial bridge in a 5-year-old boy with mild hypertrophic cardiomyopathy who underwent supra-arterial myotomy, automatic defibrillator placement, and long-term Beta-blocker therapy. We also present 10 years of follow-up with a review of literature regarding symptomatic myocardial bridges in the paediatric age group.

Referral for fetal echocardiography is associated with increased maternal anxiety.

BACKGROUND: Referral for fetal echocardiography (fECHO) is an acute stressor that may induce significant maternal anxiety. To promote good clinical management of expectant mothers in this situation, including adequate screening for possible psychiatric interventions, data are needed regarding the psychosocial functioning of women scheduled for fECHO procedures. OBJECTIVE: To investigate the association between fECHO and maternal anxiety. METHODS: Pregnant women answered two questionnaires before first fECHO. The Spielberger State-Trait Anxiety Inventory (STAI) assessed how subjects feel "now" (state) versus how they "usually feel" (trait). Separate state and trait anxiety scores were calculated; scores were compared between the study cohort and a gestational age-matched historical cohort of 31 pregnant women who did not undergo fECHO. A second questionnaire developed by the investigators ascertained pregnancy specific concerns and characteristics. RESULTS: Forty subjects were enrolled. The mean state score of the fECHO cohort (42.1 +/- 15.1) differed from the historical cohort (32.8 +/- 11.3; p = 0.006); however there was no difference between trait scores (34.7 +/- 10.8 vs. 35.4 +/- 12.8; p = 0.8). A multivariate linear regression model controlling for race and maternal age demonstrated that fECHO was a strong independent predictor of maternal state anxiety score (p = 0.004, beta = 10.4). CONCLUSIONS: Pregnant women presenting for fECHO report high anxiety levels compared with women not presenting for fECHO. Clinician awareness and sensitivity are recommended and further investigation of modifiers of anxiety in this high risk group should be explored.

The impact of prenatal diagnosis of complex congenital heart disease on neonatal outcomes.

Prenatal diagnosis of congenital heart disease (CHD) is increasingly common. However, the current impact of prenatal diagnosis on neonatal outcomes is unclear. Between January 2004 and January 2008, a retrospective chart review of infants who underwent surgical repair of CHD before discharge at our institution was conducted. Obstetric and perioperative variables were recorded. Of 439 neonates, 294 (67%) were diagnosed prenatally (PREdx). Infants with PREdx had a lower mean birth weight (3.0 +/- 0.6 vs. 3.1 +/- 0.6 kg, p = 0.002) and gestational age (37.9 +/- 2.1 vs. 38.6 +/- 2.4 wk, p < 0.001) than those with postnatal diagnosis (POSTdx). Severe lesions were more likely to be PREdx: Neonates with single-ventricle (SV) physiology (n = 130 patients [31.2%]) had increased odds of PREdx (n = 113/130, odds ratio [OR] 4.7; 95% confidence interval [CI] 2.7-8.2, p < 0.001). PREdx was associated with decreased preoperative intubation (OR 0.62; 95% CI 0.42-0.95, p = 0.033), administration of antibiotics (OR 0.23; 95% CI 0.15-0.36, p < 0.001), cardiac catheterization (OR 0.54; 95% CI 0.34-0.85, p = 0.01), and emergency surgery (OR 0.18; 95% CI 0.06-0.5, p < 0.001) compared with POSTdx infants. There was no difference in APGAR scores, preoperative pH, day of life of surgery, operative complications, hospital length of stay, or overall mortality in the PREdx versus POSTdx groups, even when controlling for lesion severity. PREdx was not independently associated with neonatal mortality, despite having included more severe cardiac lesions. PREdx was significantly associated with decreased neonatal morbidity in terms of decreased use of preoperative ventilator, administration of antibiotics, cardiac catheterization, and emergency surgery.

Congenital heart disease in pregnancies complicated by maternal diabetes mellitus. An international clinical collaboration, literature review, and meta-analysis.

PURPOSE: Investigation of the incidence and distribution of congenital structural cardiac malformations among the offspring of mothers with diabetes type 1 and of the influence of periconceptional glycemic control. METHODS: Multicenter retrospective clinical study, literature review, and meta-analysis. The incidence and pattern of congenital heart disease in the own study population and in the literature on the offspring of type 1 diabetic mothers were compared with the incidence and spectrum of the various cardiovascular defects in the offspring of nondiabetic mothers as registered by EUROCAT Northern Netherlands. Medical records were, in addition, reviewed for HbA(1c) during the 1st trimester. RESULTS: The distribution of congenital heart anomalies in the own diabetic study population was in accordance with the distribution encountered in the literature. This distribution differed considerably from that in the nondiabetic population. Approximately half the cardiovascular defects were conotruncal anomalies. The authors' study demonstrated a remarkable increase in the likelihood of visceral heterotaxia and variants of single ventricle among these patients. As expected, elevated HbA(1c) values during the 1st trimester were associated with offspring fetal cardiovascular defects. CONCLUSION: This study shows an increased likelihood of specific heart anomalies, namely transposition of the great arteries, persistent truncus arteriosus, visceral heterotaxia and single ventricle, among offspring of diabetic mothers. This suggests a profound teratogenic effect at a very early stage in cardiogenesis. The study emphasizes the frequency with which the offspring of diabetes-complicated pregnancies suffer from complex forms of congenital heart disease. Pregnancies with poor 1st-trimester glycemic control are more prone to the presence of fetal heart disease.

The ductus arteriosus rarely requires treatment in infants > 1000 grams.

We sought to determine the rate of spontaneous closure of the ductus arteriosus (DA) in very-low-birth-weight infants. This prospective observational study included 65 infants whose birth weight (BW) < 1500 g. Echocardiograms were done on day of life (DOL) 3 and 7, weekly for the first month, and bimonthly until ligation, discharge, or death. Treatment was reserved for infants with heart failure, acute renal impairment, or those with significant persistent or escalating respiratory support. Chi-square tests, Student T tests, and logistic regression models were used to identify possible associations between spontaneous ductal closure by DOL 7 and predictor variables. Patterns of spontaneous DA closure over time were examined using Kaplan-Meier survival analysis. The DA closed spontaneously in 49% infants by DOL 7. Rates of spontaneous closure by DOL 7 differed significantly by BW strata: 67% for BW > 1000 g, 31% for BW 1000 g did not require intervention, and the DA closed spontaneously prior to discharge in 94%. In a logistic regression model, only BW > 1000 g and male gender were significantly associated with spontaneous closure by 1 week of life. The median time to spontaneous closure differed significantly between infants in the two BW strata: 7 days for > 1000 g versus 56 days for 1000 g BW is rarely indicated. In infants

Incidence of aortic root dilatation in pectus excavatum and its association with Marfan syndrome.

OBJECTIVE: To investigate the incidence of aortic root dilatation in pectus excavatum. DESIGN: Retrospective medical record review and echocardiographic reanalysis. SETTING: Morgan Stanley Children's Hospital of New York-Presbyterian. PARTICIPANTS: Surgical candidates with pectus excavatum (n = 37) and age-matched controls (n = 44) referred for an echocardiogram from 1994 to 2002. INTERVENTIONS: Two-dimensional and color Doppler transthoracic echocardiograms. OUTCOME MEASURES: The aortic annulus and root were measured and z scores were calculated and compared. Medical records were reviewed for genetic evaluation. RESULTS: Patients with pectus excavatum and age-matched controls were reanalyzed. There was no difference in age, weight, height, or body surface area between patients and controls. There were no differences in the mean aortic annulus diameter, mean aortic annulus z score, or mean aortic root measurements. However, the aortic root z score was significantly higher in the pectus excavatum group compared with the controls: 0.9 (SD, 1.06) vs 0.0 (SD, 1.25) (P = .001). There were more patients with an aortic root z score of 2 or greater in the pectus excavatum group (9 of 37 patients) than in the control group (0 of 43 controls), with a calculated odds ratio of 29.7 (95% confidence interval, 1.10-1.59). Genetic evaluation was performed in 5 patients with a pectus excavatum and dilated aortic root; 2 of them received diagnoses of Marfan syndrome. CONCLUSIONS: Aortic root dilatation is more common in patients with pectus excavatum than in a control population. Echocardiographic screening may be useful in the identification of aortic root dilatation in patients with isolated pectus excavatum.

Parental understanding of neonatal congenital heart disease.

BACKGROUND: This study aimed to evaluate the impact of prenatal diagnosis on parental understanding of congenital heart disease (CHD) in newborns. METHODS: Consenting parents of newborns with CHD answered questions about the cardiac lesion, surgical repair, follow-up management, risk for CHD in future children, and maternal education before neonatal intensive care unit (NICU) discharge. A total understanding score was calculated (0-10) as the sum of five subscores: physician score, CHD score, surgery score, follow-up score, and reproduction score. Each category was scored as 0 (none correct), 1 (some correct), or 2 (all correct). The prenatal and postnatal diagnoses scores were compared. RESULTS: From June 2006 to November 2006, 50 families completed the questionnaire. Of these 50 families, 26 reported a prenatal diagnosis. The mean infant age when the parents were approached was 17.3 +/- 13.3 days. The summary understanding score for the entire group was 6.3 +/- 2.4 of 10. Multivariate regression analysis demonstrated a difference in scores between prenatal and postnatal diagnosis groups (p = 0.02) when control was used for maternal education. Prenatal diagnosis and maternal education (p < 0.01) had independent effects on the score. CONCLUSION: Prenatal diagnosis increases parental understanding of neonatal CHD. Nevertheless, parental understanding remains suboptimal.

PFO closure complications from the AGA registry.

OBJECTIVES: To evaluate all complications that occurred during or after cardiac catheterizations for Amplatzer PFO device closure of patent foramen ovale (PFO), determine the cause of the complications and recommend techniques to minimize complications in the future. BACKGROUND: Rare complications were reported to the manufacturer of the Amplatzer PFO occluder since the introduction of the device. METHODS: A panel of independent physicians reviewed all complications reported to the manufacturer to determine whether the complication was related to the device or related to the cardiac catheterization procedure. Demographic data, echocardiograms, operative reports, and time to occurrence of complications were reviewed. RESULTS: A total of 11 events were reported. Only two patients had device related complications (erosion), an incidence of 0.018%. Two patients were found to have additional atrial septal defect after PFO closure. Two patients were thought to have an inflammatory reaction without any serious sequelae. Five complications were related to the cardiac catheterization procedure (atrial appendage perforation). CONCLUSIONS: Device related complications after Amplatzer PFO occluder placement are extremely rare. Cardiac catheterization related complications appear to be the most common cause of the hemodynamic compromise. Careful manipulation of catheters and wires, recognition of the location of the catheter by fluoroscopy and echocardiography will decrease the risk of such complications.

Spontaneous regression of left ventricular dilation in children with restrictive ventricular septal defects.

OBJECTIVES: To test the hypothesis that left ventricular (LV) dilation associated with pressure-restrictive ventricular septal defect (VSD) often remains stable or regresses spontaneously, calling into question the role of interventional management for such defects. STUDY DESIGN: We analyzed 96 serial echocardiograms from 33 unoperated patients with a moderate-to-large VSD with LV dilation (LV end-diastolic dimension [LVED] z score >2.0) at enrollment who were followed for more than 2 years. Records of 125 surgical patients also were reviewed. Patients were evaluated for evidence of persistent or progressive LV dilation; signs or symptoms of congestive heart failure (CHF), failure to thrive (FTT), or pulmonary hypertension (PAH); as well as acquired ventricular outflow obstruction or aortic regurgitation. LVED z scores at enrollment versus latest follow-up were compared using paired t tests. A random-effects model with random intercept and slope was fitted to account for repeated observations for each patient. RESULTS: Mean age at enrollment was 4.6 +/- 3.2 years, and mean follow-up was 7.8 +/- 4 years (range, 2.8 to 22 years), during which mean LVED z score decreased from 3.0 +/- 0.6 to 1.2 +/- 1.3 (P < .01). LVED z score decreased in 29 of the 33 patients, and decreased to <2 in 26 of these 29 (79%). CONCLUSIONS: Most patients with pressure-restrictive VSD with moderate-to-severe LV dilation without CHF, FTT, or PAH will experience spontaneous resolution of LV dilation and can avoid cardiac surgery or catheter-based intervention.

Beta-blocker therapy does not alter the rate of aortic root dilation in pediatric patients with Marfan syndrome.

OBJECTIVE: To test the hypothesis that chronic beta-blocker therapy in pediatric patients with Marfan syndrome alters the rate of aortic root dilation. Beta-blockade has been advocated as preventive therapy for Marfan syndrome based on reports indicating a decreased rate of aortic root dilation in treated patients. STUDY DESIGN: Patients with Marfan syndrome (n = 63) followed at Children's Hospital of Pittsburgh or Children's Hospital of New York-Presbyterian who had > or =18 months of echocardiographic follow-up were studied. All clinical data and 213 serial echocardiograms were reviewed, and aortic root dimensions were measured. Patients were divided into 2 groups for comparison: untreated (n = 34) and treated (n = 29). RESULTS: At study entry, the 2 study groups were comparable in terms of age, sex, body surface area (BSA), aortic root measurements, heart rate, and corresponding z scores. Follow-up duration in each group was similar. At last follow-up, heart rates and heart rate z scores were lower in the treated group. Rates of change of aortic root measurements (P = .52) and the corresponding z scores were not statistically different between the 2 group at the study's end. CONCLUSIONS: This study suggests that that beta-blocker therapy does not significantly alter the rate of aortic root dilation in children with Marfan syndrome. Based on these data, the recommendation of lifetime beta-blocker therapy instituted during childhood should be reassessed.

Ascending aortic aneurysm in a fetus due to a benign nodular myofibroblastic lesion.

A fetal echocardiogram at 20 weeks of gestation revealed a large ascending aortic aneurysm in the presence of a normal aortic root and normal intracardiac anatomy. No other abnormalities were noted in the fetus. Upon termination of pregnancy, histopathological examination revealed an isolated benign nodular myofibroblastic lesion of likely hamartomatous origin, a first description of such pathology contributing to the formation of an aneurysm in the ascending aorta.

Prenatal diagnosis of conotruncal malformations: diagnostic accuracy, outcome, chromosomal abnormalities, and extracardiac anomalies.

The purpose of this study was to determine whether continuing experience in prenatal diagnosis of conotruncal malformations (CTMs) has resulted in improved diagnostic accuracy and outcome. Previous reports have demonstrated particular difficulty with ascertainment of the spatial relationship of the great arteries in patients with CTM. The prognosis for fetuses with CTM was poor. Medical records of 113 consecutive fetuses in whom a CTM (tetralogy of Fallot [TOF], double-outlet right ventricle [DORV], type B aortic arch interruption, transposition of the great arteries [TGA], and persistent truncus arteriosus [TA]) was diagnosed antenatally between 1994 and 2003 were reviewed. The diagnosis of the 91 fetuses with CTM included TOF (n = 32), TGA (n = 29), DORV (n = 22), and TA (n = 8). The great arterial spatial relationship was diagnosed accurately in 84 of the 91 (92%) live-born infants. In the other seven infants with DORV, the great arterial spatial relationship was identified inaccurately. The overall survival to 30 days was 85 of 91 (93%). Twenty-three of 91 (25%) patients had extracardiac anomalies. Genetic diagnosis (amniocentesis) was obtained in 63 of 94 patients; 11 (17%) had chromosomal abnormalities. Maternal glucose tolerance results were obtained in 65 of the 91 patients and were abnormal in 25 of 65 (38%). Prenatal diagnostic accuracy of conotruncal malformations is excellent; the arterial spatial relationship of DORV remains problematic. The populations of fetuses with CTMs who continue to develop to term have an excellent prognosis.

Trends in fetal echocardiography and implications for clinical practice: 1985 to 2003.

OBJECTIVE: The purpose of this study was to determine whether patterns of referral for fetal echocardiography (FE) and the subsequent yield for structural congenital heart disease (CHD) have changed between 1985 and 2003. METHODS: All FE performed between 1985 and 2003 at Yale-New Haven Hospital was reviewed. The primary indication for study and the presence of structural CHD were recorded, and data were analyzed for trends. Linear regression with Pearson coefficient calculation and Mantel-Haenszel chi(2) analysis were performed (P < .05 significant). RESULTS: Between 1985 and 2003, 10,806 patients had FE at Yale-New Haven Hospital, and 774 cases of structural CHD were detected. The annual number of studies and rate of detected structural CHD remained constant through the study period. There was a significant increase in the proportion of studies for diabetes, maternal structural CHD, suspicious 4-chamber heart, and family history of cardiac disease. There was a significant decrease in the proportion of studies for a previous child with structural CHD, cardiac teratogen exposure, other fetal anomalies, aneuploidy, fetal arrhythmia, and nonimmune hydrops. The percentage of structural CHD detected by indication remained constant through the study period. Subgroup analysis of diabetes revealed an increase in class B diabetes, while classes C and D remained stable. CONCLUSIONS: This is one of the largest series of FE and suggests that the pattern of indications has changed since 1985. Specifically, referral for diabetes (mostly class B) has increased without a change in yield of structural CHD by indication for sonography. The changing referral patterns reflect a change in obstetric demographics and has implications for obstetric care.

The use of a bedside assay for plasma B-type natriuretic peptide as a biomarker in the management of patent ductus arteriosus in premature neonates.

OBJECTIVE: To test the utility of the bedside plasma concentration of B-type natriuretic peptide (BNP) assay as a screen for patent ductus arteriosus (PDA) in premature neonates. STUDY DESIGN: Newborn infants admitted to the neonatal intensive care unit (NICU) had paired echocardiography and BNP measurements at enrollment and every 4 to 5 days. RESULTS: Twenty neonates (gestational age approximately 28.6 weeks and birth weight approximately 1161 g) had 81 paired echocardiography and BNP determinations. BNP ranged from 5 to 3900 pg/mL. Fifty-six of 81 echocardiograms showed PDA. Significant correlations were found between BNP and ductal size and degree of shunting. Correlation was greater in infants >2 days of age. BNP >300 pg/mL predicted significant PDA, whereas BNP <105 pg/mL predicted absence of significant PDA. CONCLUSION: Bedside measurement of BNP correlates with magnitude of PDA in premature newborns, particularly beyond day 2, and may be useful in guiding diagnostic and management strategies.

Fetal echocardiography and its evolving impact 1992 to 2002.

The change in frequency over a 10-year time span of establishing a prenatal cardiac diagnosis was studied in infants requiring cardiac surgery in the newborn period. The frequency of prenatal diagnosis increased from 8% to 57%, resulting in earlier postnatal diagnosis and a shift toward delivery in a tertiary care center; the most commonly prenatally diagnosed lesions were either ductal dependent or single ventricular in nature.

Erosion of Amplatzer septal occluder device after closure of secundum atrial septal defects: review of registry of complications and recommendations to minimize future risk.

The objectives of this study were to identify possible risk factors that may lead to erosion of the Amplatzer septal occluder (ASO) and recommend ways to minimize future risk. There have been rare occurrences of adverse events with development of pericardial effusion after ASO placement. Identification of high-risk cases, early recognition, and prompt intervention may minimize the future risks of adverse events. In all patients who developed hemodynamic compromise after ASO placement, echocardiograms (pre-, intra-, and postprocedure), atrial septal defect (ASD) size (nonstretched, stretched), size of the device used, cineangiograms, and operative records were reviewed by a panel selected by AGA Medical Corporation. The findings were compared to the premarket approval data obtained from FDA-approved clinical trials that were conducted in the United States, before the device was approved. A total of 28 cases (14 in United States) of adverse events were reported to AGA Medical. All erosions occurred at the dome of the atria, near the aortic root. Deficient aortic rim was seen in 89% and the defect described as high ASD, suggesting deficient superior rim. The device to unstretched ASD ratio was significantly larger in the adverse event group when compared to the FDA trial group. The incidence of device erosion in the United States was 0.1%. The risk of device erosion with ASO is low and complications can be decreased by identifying high-risk patients and following them closely. Patients with deficient aortic rim and/or superior rim may be at higher risk for device erosion. Oversized ASO may increase the risk of erosion. The defect should not be overstretched during balloon sizing. Patients with small pericardial effusion at 24 hr should have closer follow-up.