Ruey-Kang R. Chang

Missed diagnosis of critical congenital heart disease.

OBJECTIVES To evaluate the rate and the clinical and demographic characteristics of missed diagnosis of critical congenital heart disease (CCHD). DESIGN Population-based retrospective study of 1989-2004 California statewide death registry data. SETTING California. PARTICIPANTS The study cohort consisted of 898 infants who died of CCHD at 1 to 364 days of age who either did not undergo surgery or had an unknown surgery status. From all patients who met these initial criteria, we examined (1) whether autopsies were performed and autopsy results were used to establish the cause of death, (2) whether autopsies were performed but the results were not used to establish a cause of death, and (3) whether infants with hypoplastic left heart syndrome (HLHS) were potentially receiving comfort care. MAIN OUTCOME MEASURES Missed and possibly late diagnosis of CCHD. RESULTS Among 152 infants with a missed CCHD diagnosis, the median age at death was 13.5 days. More than 50% of patients with a missed CCHD diagnosis (n = 78) died at home or in the hospital emergency department. The most common diagnoses were HLHS and coarctation of aorta. There were an average of 10 patients with missed CCHD diagnoses and 20 patients with late diagnoses in California per year. The total annual number of patients with missed or late diagnoses decreased in 1989-1999 and remained unchanged in 2000-2004. CONCLUSIONS Up to 30 infants per year died of a missed or possibly late diagnosis of CCHD in California. Most deaths due to a missed diagnosis were from HLHS and coarctation of the aorta. Because the median age at death was younger than 2 weeks, a careful cardiovascular evaluation for left heart obstructive CHD should be performed during the first postdischarge visit to a pediatricians office at 3 to 5 days of age.

Electrocardiographic and Echocardiographic Features That Distinguish Anomalous Origin of the Left Coronary Artery from Pulmonary Artery from Idiopathic Dilated Cardiomyopathy

Abstract. Many authors have reported noninvasive means of diagnosing anomalous left coronary artery from pulmonary artery (ALCAPA) and differentiating ALCAPA from idiopathic dilated cardiomyopathy (DCM). Systematic evaluation using these noninvasive diagnostic modalities is not available. To distinguish between ALCAPA and DCM using a systematic approach, we examined 23 patients with ALCAPA (age 1 month to 23 years, median 7 months) and 23 patients with DCM (age 5 days to 16 years, median 6.6 months). Standard 12-lead electrocardiograms (ECG) and 2-dimensional (2-D) and color Doppler echocardiograms were performed. A logistic regression model was applied using ALCAPA diagnosis as the dependent variable and ECG and echocardiographic findings as independent variables. A scoring system was created to establish the ALCAPA diagnosis based on results from the logistic regression. On the logistic regression, the ECG feature of QT pattern in aVL (Q wave ≥ 3 mm deep with an inverted T wave) and echocardiographic features of right coronary artery diameter to aortic annulus ratio ≥ 0.14, increased papillary muscle echogenicity, and Doppler color flow of LCA from aorta or pulmonary artery were the most significant differentiating features between the ALCAPA and DCM groups. A scoring system was developed using the previous five variables and assigning a score of 1 to each variable (−1 to Doppler color flow of LCA from aorta). The scoring system had sensitivity of 100% and specificity of 91% for ALCAPA diagnosis. Compared with previous reported diagnostic features in differentiating ALCAPA and DCM, the scoring system had a much higher specificity and positive predictive value. In conclusion, we selected the most useful ECG and echocardiographic features to differentiate between ALCAPA and DCM and created a scoring system to aid clinical diagnosis. This scoring system may be useful in evaluating children with acute congestive heart failure.

Decreasing number of deaths of infants with hypoplastic left heart syndrome.

OBJECTIVE To assess mortality rates and demographic characteristics for infants with hypoplastic left heart syndrome (HLHS) in California. STUDY DESIGN We used California death registry files from 1990 to 2004 to compare overall mortality and demographic characteristics between infants with HLHS (n = 856) who received surgical intervention and those who received comfort care. The California discharge database was used to calculate the annual incidence of disease and survival rates for infants with HLHS undergoing surgery between 1995 and 1999. RESULTS The annual number of deaths for infant with HLHS decreased by nearly 50% over the study period, even though the incidence of the disease remained constant during this period. For all deaths, the proportion of infants receiving comfort care decreased significantly over time compared with those infants who underwent surgery. Although the total number of deaths in infants with HLHS who underwent surgical intervention increased, the mortality rate for this cohort decreased. Interstage unexpected mortality and the median age at death both increased in the infants who underwent surgery. CONCLUSIONS Over the study period of 1990 to 2004 in California, fewer families chose comfort care for infants diagnosed with HLHS, and the number of deaths for those infants who underwent surgical intervention increased. These changes likely reflect improved treatment outcomes and an increased number of families desiring surgical intervention in higher-risk infants.

Bubble contrast echocardiography in detecting pulmonary arteriovenous shunting in children with univentricular heart after cavopulmonary anastomosis.

OBJECTIVES We sought to compare bubble contrast echocardiography and pulmonary angiography in detecting pulmonary arteriovenous malformation (PAVM) in children with cavopulmonary anastomosis (CPA), and to examine anatomic and physiologic variables associated with the development of PAVM. BACKGROUND Development of PAVM in patients with CPA may cause profound cyanosis. Pulmonary arteriovenous malformation has been traditionally diagnosed by pulmonary angiography with reported incidence of 20% to 25% in patients with CPA. METHODS Fourteen patients (age 1.1 to 12.6 years) with any forms of CPA and normal pulmonary venous drainage formed the study population. All patients underwent cardiac catheterization and pulmonary angiography. Bubble contrast echocardiographic studies were performed with injection of 10 ml of agitated saline solution into branch pulmonary arteries. Transthoracic echocardiograms using an apical view were performed to assess the appearance of bubble contrast in the systemic ventricles. We compared the results of pulmonary angiograms and contrast echocardiograms, and findings of contrast echocardiograms between lungs with hepatic venous blood flow and lungs without hepatic venous blood. RESULTS Ten of the 14 patients (71%) had positive contrast echocardiographic studies, compared with three (21%) detected by pulmonary angiograms (p = 0.01). No difference was found in pulmonary artery pressure, transpulmonary gradient or presence of heterotaxy syndrome between patients with positive contrast echocardiographic studies and patients with negative studies. However, patients with positive contrast echocardiograms tended to have lower oxygen saturation (81%) and higher hemoglobin (16.4 g/dl) compared with patients with negative studies (88% and 14.7 g/dl, p = 0.10 and p = 0.18 respectively). Patients with Glenn shunt or unidirectional Fontan had higher incidence of PAVM (10/11) compared with patients with classic or lateral tunnel Fontan (0/3, p = 0.01). All 12 lungs with no perfusion of hepatic venous blood had positive contrast echocardiographic studies. Lungs with no hepatic venous blood flow were more likely to develop PAVM compared with lungs with hepatic venous blood flow (12/12 and 3/16 respectively, p < 0.01). CONCLUSIONS Bubble contrast echocardiography is more sensitive in detecting PAVM compared with pulmonary angiography. The prevalence of PAVM in patients with CPA may be much higher than what had been reported previously. Lungs with no hepatic venous blood flow are more likely to develop PAVM than lungs with hepatic venous blood flow.

Staged repair of pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries: Experience with 104 patients

OBJECTIVE To determine the early and intermediate-term outcome of the staged repair used to treat children with pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. METHODS We reviewed a retrospective case series of 104 patients with this complex lesion. Information was obtained from medical records and referring physicians. RESULTS Of the 104 patients treated with the staged repair, 58 achieved completion of anatomic repair. The 10-year mortality was 16.5%. In the patients with complete repair, the median right-to-left ventricle pressure ratio was 0.5. The overall surgical reoperation rate was 17%, and 15.5% of patients required postoperative interventional cardiac catheterization. In the multivariate analysis, the number of collateral vessels incorporated in the repair was found to be an independent risk factor for postoperative mortality and an elevated right-to-left ventricle pressure ratio after complete repair. CONCLUSION The staged repair can be successfully used to treat patients with pulmonary atresia with ventricular septal defect and major aortopulmonary collateral arteries. This method yields a relatively low mortality with good functional results.

Predictors of left ventricular outflow obstruction following single-stage repair of interrupted aortic arch and ventricular septal defect

This study looked at echocardiographic predictors of left ventricular outflow obstruction after primary neonatal repair of interrupted aortic arch and ventricular septal defect. Results of this study indicate that the only significant independent predictor of left ventricular outflow obstruction is aortic valve diameter; all patients with an aortic valve diameter <4.5 mm (Z score <-5) subsequently developed obstruction, whereas patients with annuli >4.5 mm (Z score >-5) remained free from obstruction.

B-type natriuretic peptide in children after cardiac transplantation

BACKGROUND The normal B-type natriuretic peptide (BNP) concentration and the significance of increased BNP concentration in children after orthotopic heart transplant (OHT) remain unknown. We sought to determine plasma BNP concentrations in relation to post-transplant time and to explore factors associated with increased BNP in pediatric OHT recipients. METHODS We obtained plasma BNP concentrations in 44 pediatric patients at 1 to 171 months after OHT. All patients underwent endomyocardial biopsies and echocardiography. We analyzed the association between BNP and post-transplant time, as well as the association between BNP concentration and left ventricular end-diastolic dimension (LVEDD) after transplantation. RESULTS The age of study patients ranged from 0.9 to 21.2 years (mean, 11.4 +/- 6.2 years; median, 10.5 years). We evaluated BNP concentrations immediately after transplantation. The mean BNP concentration decreased exponentially to 100 pg/ml by 14 weeks after OHT. Although BNP concentration relative to time after OHT varied among individuals, all patients with multiple measurements showed predictable rates of decrease. This decrease in BNP concentration was not associated with changes in LVEDD. CONCLUSIONS Plasma BNP concentration was elevated in children after OHT and decreased exponentially in time to 100 pg/ml by 14 weeks after OHT. The decrease in BNP concentration was unrelated to left ventricular dimension.

Marked left ventricular hypertrophy in children on tacrolimus (FK506) after orthotopic liver transplantation.

Although the cardiac effects of tacrolimus (FK506) have not been well documented, clinical cases of children on FK506 who developed hypertrophic obstructive cardiomyopathy have been reported. We report 2 cases of marked concentric hypertrophy of the left ventricular myocardium found at autospy in children on FK506.

Sex-related Disparity in Surgical Mortality among Pediatric Patients

BACKGROUND It has been reported that gender differences in cardiovascular outcomes found in adults also are present in children who undergo surgical repair for congenital heart disease. METHODS California statewide hospital discharge data 1989-99 were used to study outcomes in children <18 years undergoing cardiac surgery. Hospital discharge data were linked to death registry data to study postdischarge death within 30 days of discharge. We used logistic regression to evaluate the effect of gender on mortality controlling for age, race and ethnicity, type of insurance, household income, date and month of surgery, type of admission, hospital case volume, and various types of procedures. RESULTS There were 25 402 cardiac surgery cases with 1505 in-hospital deaths (mortality rate of 5.92%). An additional 37 deaths occurred within 30 days after hospital discharge. Crude mortality rates for males (5.99%) and females (5.84%) were not significantly different. However, fewer neonates were female and females underwent a higher proportion of low-risk procedures than males. Logistic regression revealed that females, compared with males, had a significantly higher odds ratio (OR) for in-hospital mortality (OR = 1.18, P < .01) and overall (up to 30 days post discharge) mortality (OR = 1.18, P < .01). The risk-adjusted length of hospital stay was similar between females and males while charges per hospital day were slightly higher in females than males. The prevalence of Down syndrome, pulmonary hypertension, and failure to thrive were higher in females. CONCLUSIONS Female gender is associated with an 18% higher in-hospital and 30-day postdischarge mortality as compared with male gender. There was no difference in length of hospital stay between males and females. The mechanism by which female gender acts as a risk factor requires further investigation.

Outcomes of critical congenital heart disease requiring emergent neonatal cardiac intervention.

The aim of this study was to evaluate outcomes for neonates with critical congenital heart disease (CHD) requiring emergent neonatal cardiac intervention (ENCI).