Michael Berant

Reversal of cardiac complications in thalassemia major by long‐term intermittent daily intensive iron chelation

Objectives: In patients with thalassemia major (TM) who are non‐compliant with long‐term deferoxamine (DFO) chelation, survival is limited mainly because of cardiac complications of transfusional siderosis. It was recently shown in a small group of TM patients with established cardiac damage that continuous 24‐h DFO infusion via an indwelling intravenous (i.v.) catheter is effective in reversing cardiac toxicity. The aim of the present study was to evaluate the results with intermittent daily (8–10 h) i.v. DFO.

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.

Lung perfusion scans in patients with congenital heart defects

In 63 patients with various congenital heart defects, lung perfusion was evaluated with technetium-99mm macroaggregated albumin. Right lung perfusion abnormalities were documented in 34 patients (54%). A particularly high incidence occurred in patients who had undergone a systemic to pulmonary artery shunt operation as an initial palliative procedure or who had had right ventricular outflow reconstruction and in those with bilateral pulmonary artery stenosis. Serial studies were helpful in evaluating the functional results of different transcatheter interventions for optimizing pulmonary blood flow. The quantitative relative perfusion radionuclide method was a more sensitive means of detecting cases of abnormal lung perfusion than was chest radiology.

Percutaneous closure of small patent ductus arteriosus: Comparison of Rashkind double‐umbrella device and occluding spring coils

We compared our current practice of closing small patent ductus arteriosus (PDA) with coils with our previous experience of using double-umbrellas. Twelve patients underwent percutaneous closure of a small PDA with a coil. Selection criteria were a minimal diameter of < or = 2.5 mm and angiographic type A or E. The 12 most recent, non-consecutive patients who had undergone double-umbrella device closure of a PDA and would presently be considered suitable candidates for spring coil occlusion were retrospectively reviewed. The two groups were compared with regard to complications and immediate and midterm results. Eleven of the 12 attempted PDA occlusions using spring coils were successful. The mean follow-up period was 5.8 +/- 4.6 months. Color-Doppler echocardiograms have shown no residual leaks, no turbulence in the descending aorta, and no left pulmonary artery stenosis. All 12 attempted double-umbrella device placements were successful. The mean follow-up period was 16.2 +/- 5.8 months. Color-Doppler echocardiograms have shown trivial residual leaks in four patients and mild turbulent flow in the left pulmonary artery in one patient. There was no significant difference between the two groups in demographic and hemodynamic data. Although the mean follow-up time was significantly longer in the patients who underwent double-umbrella closure, there was significantly more color-Doppler echocardiographic evidence of residual flow (P < 0.03). Small PDA closure with coils is effective, resulting in less residual leaks compared with the double-umbrella device.

Acute hepatic failure after open-heart surgery in children

SummaryAcute hepatic failure (AHF) combined with acute renal failure (ARF) is a well-known complication of open-heart surgery in adults. The occurrence of this complication in two children after open-heart surgery for correction of congenital heart disease is reported. Hypotension occurred during the operation and was treated by catecholamine vasopressors. AHF set in during the postoperative course; it was manifested by impaired consciousness, hypoglycemia, hyperbilirubinemia, hyperammonemia, elevated liver enzymes and prolongation of the prothrombin time with failure of hemostasis. ARF also developed in both children. One of the patients survived the acute episode of hepatic failure. The importance of early diagnosis, routine close monitoring, and appropriate selection of vasopressors is emphasized.

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 Childrens 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.

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.

Late death from aneurysm rupture following balloon angioplasty for branch pulmonary artery stenosis

We report on a child with Williams syndrome who died from aneurysm rupture 2 weeks following balloon angioplasty for branch pulmonary artery stenosis.

False aneurysm of the right ventricle due to endocarditis in a child.

SummaryAn eight-year-old boy with supravalvular pulmonic stenosis, supravalvular aortic stenosis, and ventricular septal defect developedStaphylococcus aureus endocarditis. The infection was complicated by formation of a false aneurysm of the right ventricular outflow tract, which was demonstrated by contrast echocardiogram. Surgical treatment was successful. This is a unique case of false aneurysm of the outflow tract of the right ventricle, because it is secondary to endocarditis without known previous trauma to the right ventricular wall.

Interventional catheterization decreases plasma levels of atrial natriuretic peptide (ANP) in children with congenital heart defects

Atrial natriuretic peptide (ANP) is one of the cardiac peptides implicated in volume and sodium homeostasis. We investigated the effect of interventional catheterization on plasma levels of ANP, aldosterone, and cortisol in 28 children with various congenital heart defects (CHD). Patients were divided by age into two groups: group A--infants and children over 3 months of age (n = 22), and group B--newborns (n = 6). These were compared to age-matched control groups. In group A, interventions included pulmonic valvotomy (n = 8), aortic valvotomy (n = 4), balloon angioplasty of native coarctation of the aorta (n = 3), balloon dilatation of the mitral valve (n = 1), and Rashkind double umbrella closure of patent ductus arteriosus (n = 6). Group B interventions included pulmonic valvotomy (n = 3), aortic valvotomy (n = 1), and balloon atrial septosomy (n = 2). In group A, mean ANP levels were markedly higher than in age-matched controls (125.2+/-15.8 vs. 24.6+/-4.6 pg/ml) (P <0.0001), and decreased immediately after intervention (75.6+/-11.4 pg/ml, P <0.02), and more markedly on follow-up (42.9+/-5.0 pg/ml, P < 0.0001). In group B (newborns), mean basal plasma levels were high before and after intervention and were not different from age-matched controls (243+/-42.1 vs. 220.8+/-16.2 pg/ml). There was a significant decrease on follow-up measurement (62.1+/-12.7 pg/ml, P < 0.005). In both groups, plasma cortisol levels increased significantly immediately following catheterization (P < 0.02), and normalized on follow-up. Basal aldosterone levels were normal in group A and high in Group B (9.9+/-3.8 vs. 167.6+/-16.9 ng/dl) (P < 0.001). It is suggested that plasma ANP levels are increased in children with CHD, without overt heart failure, and decrease significantly following successful intervention. In newborns with CHD, the physiological high ANP levels obscure the effect of the CHD.