Prenatal diagnosis and outcome of right aortic arch without significant intracardiac anomaly.

BACKGROUND: Right aortic arch (RAA) is usually associated with the presence of a significant congenital heart disease, usually a conotruncal defect, which determines the postnatal outcome. In the absence of such cardiac defects, the significance of RAA has not been determined. The aims of this study were to evaluate the significance of recognizing RAA in fetuses with normal or near normal intracardiac anatomy and to determine which associations may be present. METHODS: A retrospective study was completed of all fetuses diagnosed with RAA with normal or near normal intracardiac anatomy between 1999 and 2011. The aim was to evaluate the presence of RAA with complete ultrasonic evaluation using two-dimensional imaging complemented by the Doppler color flow technique, paying particular attention to the three-vessel and tracheal view. We compared the prenatal findings with the postnatal outcomes and management of this cohort of fetuses. RESULTS: Among 16,450 fetal echocardiograms, 58 fetuses (0.35%) were diagnosed with RAA with normal or near normal intracardiac anatomy. Gestational age at diagnosis ranged from 19 to 34 weeks (mean, 23 weeks). Isolated RAAs were found in 50 fetuses, and double aortic arches (DAAs) were recognized in eight other cases. The postnatal cohort consisted of 44 newborns with RAAs and eight with DAAs (two were lost to follow-up, and four pregnancies were terminated). Postnatal echocardiography confirmed the prenatal diagnosis of RAA in 41 of 45 children, and four were found to have DAAs. Three of seven fetuses diagnosed prenatally as having DAAs were found to have only RAAs. Fourteen fetuses underwent karyotyping; two had 22q11 deletion and two had 47xxy. Eleven infants (21%) had respiratory symptoms, eight with DAAs, one with RAA, mirror-image head and neck vessels, and two with RAAs and aberrant left subclavian arteries. Surgery was indicated in all symptomatic patients except one, whose symptoms resolved. One asymptomatic patient underwent operation for significant compression of the trachea. CONCLUSIONS: RAA on fetal ultrasonography may indicate vascular and chromosomal abnormalities that may complicate postnatal management. When RAA is identified, fetal karyotype analysis (including the integrity of chromosome 22) is warranted. RAA may herald an occult DAA and may be a clue to a tight vascular ring. Hence, it seems essential to conduct a careful postnatal evaluation of fetuses with RAAs on prenatal ultrasound.

Cardiovascular risk factors in children after kidney transplantation--from short-term to long-term follow-up.

Cardiovascular-related mortality is 100-fold higher in pediatric renal transplant recipients than in the age-matched general population. Seventy-seven post-renal transplant children's charts were reviewed for cardiovascular risk factors at two and six months after transplantation (short term) and at two yr after transplantation and the last follow-up visit (mean 7.14 ± 3.5 yr) (long term). Significant reduction was seen in cardiovascular risk factors prevalence from two months after transplantation to last follow-up respectively: Hypertension from 52.1% to 14%, hypercholesterolemia from 48.7% to 33%, hypertriglyceridemia from 50% to 12.5%, anemia from 29.6% to 18.3%, hyperparathyroidism from 32% to 18.3% and hyperglycemia from 11.7% to 10%, and left ventricular hypertrophy from 25.8% at short term to 15%. There was an increase in the prevalence of obesity from 1.5% to 3.9% and of CKD 3-5 from 4.75% to 24%. The need for antihypertensive treatment decreased from 54% to 42%, and the percentage of patients controlled by one medication rose from 26% to 34%, whereas the percentage controlled by 2, 3, and 4 medications decreased from 21.9%, 5.5%, and 1.4% to 6%, 2%, and 0. Children after renal transplantation appear to have high rates of cardiovascular risk factors, mainly on short-term follow-up.

The effect of methylphenidate on prefrontal cognitive functioning, inattention, and hyperactivity in velocardiofacial syndrome.

OBJECTIVE: Methylphenidate (MPH) is commonly used to treat attention-deficit/hyperactivity disorder (ADHD) in all children, including those with velocardiofacial syndrome (VCFS). Yet concerns have been raised regarding its safety and efficacy in VCFS. The goal of this study was to examine the safety and efficacy of MPH in children with VCFS. METHODS: Thirty-four children and adolescents with VCFS and ADHD participated in a randomized, controlled trial with a 2:1 ratio of MPH versus placebo. All subjects underwent a cardiological evaluation before and after MPH administration. The primary outcome measure was prefrontal cognitive performance following a single dose of MPH or placebo. A follow-up assessment was conducted after a 6-month treatment with MPH. RESULTS: Compared with placebo, single MPH administration was associated with a more robust improvement in prefrontal cognitive performance, including achievements in the Hearts and Flowers executive function task and the visual continuous performance task. After 6 months of treatment, a 40% reduction in severity of ADHD symptoms was reported by parents on the Revised Conners Rating Scale. All subjects treated with MPH reported at least one side effect, but it did not necessitate discontinuation of treatment. MPH induced an increase in heart rate and blood pressure that was usually minor, but was clinically significant in two cases. No differences in response to MPH were observed between catechol-O-methyltransferase Met versus Val carriers. CONCLUSION: The use of MPH in children with VCFS appears to be effective and relatively safe. A comprehensive cardiovascular evaluation for children with VCFS before and during stimulant treatment is recommended.

Anomalous origin of the pulmonary artery from the aorta: early diagnosis and repair leading to immediate physiological correction.

INTRODUCTION: Anomalous origin of one pulmonary artery from the ascending aorta is a rare cardiac anomaly in which the pulmonary artery abnormally arises from the ascending aorta. Physiologically, most patients develop signs of cardiac failure due to high flow to both lungs, with systemic or supra-systemic pressures in the normally connected lung. The purpose of this study is to present our experience with this rare anomaly, in which early anatomic repair lead to rapid physiologic correction. MATERIALS AND METHODS: Retrospective case review of all patients with anomalous origin of one pulmonary artery from the ascending aorta at Schneider Children's Medical center of Israel between 1986 and 2007. All clinical operative and echocardiographic charts were analysed. RESULTS: Twelve patients were diagnosed as anomalous origin of one pulmonary artery from the ascending aorta. In 10 patients, the right pulmonary artery rose from the ascending aorta, while in two an anomalous origin of the left pulmonary artery was associated with a right aortic arch. Initial diagnoses was made with two-dimensional echocardiography in all patients. In six patients, diagnostic cardiac catheterisation was performed in order to confirm the diagnosis. Age at diagnosis ranged from 5 to 180 days with a median of 15 days, and patient weight ranged from 780 grams to 5 kilograms, with a median of 3 kilograms. Initial echocardiographic evaluation showed systemic (four patients) or supra-systemic (seven patients) pressures in the right ventricle and normally connected lung. All underwent surgical repair. There was no operative mortality. All reconstructed patients achieved normal right ventricular pressures within days after surgery. The flow pattern in both pulmonary arteries was normalised. CONCLUSIONS: Early surgical repair of anomalous origin of one pulmonary artery from the ascending aorta is feasible and safe even in newborn and premature babies with complete resolution of the pulmonary hypertension and normalisation of pulmonary vascular resistance.

Are selective serotonin reuptake inhibitors cardiac teratogens? Echocardiographic screening of newborns with persistent heart murmur.

BACKGROUND: Selective serotonin reuptake inhibitors (SSRIs) have been suspected of cardiac teratogenicity, but reports have been inconsistent. Our aim was to investigate the rate of nonsyndromic congenital heart defects in newborns exposed in utero to SSRIs compared with unexposed controls. METHODS: This prospective study of women who gave birth at our tertiary center from 2000 to 2007 yielded 235 women who reported first-trimester SSRI use during pregnancy. All newborns born during the study period and found to have a persistent cardiac murmur on day 2 or 3 of life were referred for examination by a pediatric cardiologist and by echocardiography. The findings were compared between the newborns who were exposed to SSRIs and those who were not. RESULTS: Nonsyndromic congenital heart defects were identified by echocardiography in 8 of 235 (3.40%) newborns exposed in utero to SSRIs and in 1083 of 67,636 (1.60%) non-exposed newborns. The difference in prevalence between the two groups was significant (relative risk, 2.17; 95% confidence interval, 1.07-4.39). The prevalence rates for paroxetine and fluoxetine exposure were 4.3% and 3.0%, respectively. All cardiac defects in the study group were mild: ventricular septal defect (6), bicuspid aortic valve (1) and right superior vena cava to coronary sinus (1). CONCLUSIONS: Newborns exposed in utero to SSRIs, have a twofold higher risk of mild nonsyndromic heart defects than unexposed infants. The data suggest that women who require SSRI treatment during pregnancy can be reassured that the fetal risk is low and possible cardiac malformations will probably be mild. Late-targeted ultrasound and fetal echocardiography at 22 to 23 weeks' gestation are recommended in this patient group.

Transvaginal sonographic fetal axis determination in early second trimester.

OBJECTIVE: Correct prenatal determination of the fetal right/left axis is essential for the diagnosis of fetal malformations, in particular congenital heart anomalies. A reliable method of transabdominal echocardiographic assessment of the fetal situs in the late second trimester was established. We aimed to determine the validity of the transvaginal approach to assess fetal axis. METHOD: The study group consisted of 108 consecutive women in the second trimester of a singleton pregnancy, undergoing elective transvaginal anatomy scans. All had undergone previous transabdominal echocardiography to establish fetal axis. The same technique was used to assess the fetal axis during the transvaginal study, and the findings were compared. RESULTS: There was total agreement in fetal axis determination between transabdominal and transvaginal scans in all cases. The accuracy of the transvaginal study was not affected by maternal obesity, fetal position or the presence of cardiac malformation (in one case). CONCLUSION: Transvaginal ultrasonography is the reliable and accurate means of determining the fetal axis.

QT interval and dispersion in very young children treated with antipsychotic drugs: a retrospective chart review.

OBJECTIVES AND BACKGROUND: QT dispersion (QTd) is a measure of interlead variations of the surface 12-lead electrocardiogram (ECG). Increased QTd, found in various cardiac diseases, reflects cardiac instability and risk for lethal cardiac arrhythmias. Research suggests a link between psychotropic treatment, ECG abnormalities (QT prolongation), and increased sudden cardiac mortality rates. Reports of sudden death in children treated with psychotropic drugs have raised concerns about cardiovascular monitoring and risk stratification. QTd analysis has not been investigated in very young children treated with antipsychotic drugs. In the present retrospective chart review study, we calculated QT interval, QTd, and their rate-corrected values in very young children treated with antipsychotics. METHODS: The charts of 12 children (ages 5.8 +/- 0.98 yr; 4 girls, 8 boys) were examined before initiation of antipsychotic treatment [risperidone (n = 7), clotinapine (n = 1), and propericiazine (n = 4)] and during the maintenance period after achieving a positive clinical response. Three children were concomitantly maintained on methylphenidate. QT interval, QTd, and their rate-corrected values were calculated. RESULTS: QT interval, QTd, and their rate-corrected values were all within normal values both before and after successful drug treatment. CONCLUSIONS: This preliminary, naturalistic, small-scale study suggests that antipsychotic treatment, with or without methylphenidate, in very young children is not commonly associated with significant alterations of QT interval and dispersion, suggesting the relative safety of these agents in this unique age group.

Risk factors for cardiac malformations detected by fetal echocardiography in a tertiary center.

OBJECTIVE: Fetal echocardiography accurately detects congenital cardiac anomalies, but it is costly, time-consuming, and requires highly-skilled operators. Our aim was to define those patients for whom fetal echocardiography is justified. METHODS: The files of 1696 consecutive patients who underwent second- to third-trimester fetal echocardiography at our tertiary center between 1997 and 1999 were reviewed for reason for referral, echocardiography diagnosis, and pregnancy outcome. RESULTS: The patients were categorized by reason for referral into high-and low-risk groups. The high-risk group included 662 patients (39%) with fetal risk factors, 178 (10.5%) with maternal risk factors and 279 (16.5%) with poor obstetric history. The remaining 577 women (34%) were considered low-risk population. These included 282 self-referred women (due to maternal anxiety) who served as control group, 78 women who were referred because of a suspected cardiac malformation on routine second-trimester ultrasound, and 213 women who were referred because of failure to view the heart on second-trimester ultrasound. In 46 women, cardiac anomalies (2.7%) were detected prenatally and confirmed postnatally; most of them (41/46, 89%) were in the low-risk population. Abnormal cardiac findings on second-trimester ultrasound and a diagnosis of a single umbilical artery made the most significant contribution to the detection of cardiac abnormalities (p < 0.001 and p = 0.02, respectively). CONCLUSIONS: Most fetal cardiac malformations occur in the low-risk population. Abnormal view of the fetal heart on routine second-trimester screening is highly predictive of congenital cardiac anomalies.

Central venous line thrombosis in children and young adults with thalassemia major.

High doses of intravenous deferoxamine via central venous line (CVL) has recently been shown to improve survival in patients with noncompliant thalassemia major (TM). The aim of this retrospective study was to evaluate the extent of CVL-related thrombosis and to determine the presence of prothrombotic factors in children and young patients with TM on such a regimen. Twenty-three patients (median age 13, range 5-25 years) with TM in whom a tunneled CVL was inserted for intensification of iron chelation were evaluated for signs and symptoms of thrombosis and for inherited and acquired risk factors of thrombosis. Mean duration of CVL placement was 37 +/- 31 months (range 6-98 months). Eight patients (35%) had CVL-related thrombosis diagnosed clinically or by echocardiography. Nine patients (39%) had prothrombotic factors, but the thrombosis subgroup did not differ from the other group in age, platelet counts, duration of CVL placement, or the presence of predisposing prothrombotic factors. Based on the high rate of CVL-related thrombosis, routine monitoring is suggested for CVL thrombosis in this population.

Genetic, developmental, and physical factors associated with attention deficit hyperactivity disorder in patients with velocardiofacial syndrome.

Velocardiofacial syndrome (VCFS) is a relatively common developmental neuropsychiatric syndrome caused by a 22q11 microdeletion. There is an extensive variability in the phenotypic expression of this disease. The most common psychiatric disorder in VCFS is attention-deficit/hyperactivity disorder (ADHD), affecting 35-55% of patients. This study investigated the association of familial, developmental, and physical factors with the occurrence of ADHD in 51 patients with nonfamilial VCFS. Twenty-one patients (41.2%) were diagnosed with ADHD. There was a significantly greater prevalence of ADHD in the first-degree relatives of the patients with ADHD than in those without (OR = 5.9, 95% CI = 1.6-22.1, P = 0.006). No differences were noted between the ADHD and non-ADHD groups in mean Obstetric Complication Scale Score, gestational age, birth weight, age at first words, walking, and achieving bowel control. The two groups also had similar IQ scores (total, verbal, and performance) and had a similar average degree of severity of facial dysmorphism and cardiac and cleft anomalies. These findings indicate that ADHD in VCFS has a genetic contribution and the patients' VCFS-related developmental factors and physical illnesses play a lesser role.

Stent implantation for long-segment coarctation of aorta in infant with facial and mediastinal hemangioma.

We report a case of an infant with an extensive hemangioma encompassing the thoracic aorta, associated with complex coarctation. Surgical approach was abandoned for fear of bleeding. The complexity of the coarctation made it unsuitable for balloon dilation. We implanted a stent with significant angiographic improvement and resolution of systemic hypertension.