Incidence of cardiac anomalies in congenital vertebral deformity: systematic review and meta-analysis of 2910 patients.

PURPOSE: This study aimed to analyze the overall incidence of cardiac abnormalities in patients with congenital scoliosis and the possible influencing factors. METHODS: PubMed, Embase, and Cochrane Library were searched for relevant studies. The quality of the studies was assessed independently by two authors using the methodological index for nonrandomized studies (MINORS) criteria. The following data were extracted from the included studies: bibliometric data, number of patients, number of patients with cardiac anomalies, gender, types of deformity, diagnostic method, type of cardiac anomaly, location, and other associated anomalies. The Review Manager 5.4 software was used to group and analyze all the extracted data. RESULTS: This meta-analysis included nine studies and identified that 487 of 2,910 patients with congenital vertebral deformity had cardiac anomalies diagnosed by ultrasound (21.05%, 95% CI of 16.85-25.25%). The mitral valve prolapse was the most frequent cardiac anomaly (48.45%) followed by an unspecified valvular anomaly (39.81) and an atrial septal defect (29.98). A diagnosis of cardiac anomalies was highest in Europe (28.93%), followed by USA (27.21%) and China (15.33%). Females and formation defects were factors significantly associated with increased incidence of cardiac anomalies: 57.37%, 95% CI of 50.48-64.27% and 40.76%, 95% CI of 28.63-52.89%, respectively. Finally, 27.11% presented associated intramedullary anomalies. CONCLUSIONS: This meta-analysis revealed that the overall incidence of cardiac abnormalities detected in patients with congenital vertebral deformity was 22.56%. The incidence rate of cardiac anomalies was higher in females and those with formation defects. The study offers guidance for ultrasound practitioners to accurately identify and diagnose the most common cardiac anomalies.

Annular Indentation of the Ventricles in a Stillborn: A Case Report and Literature Review.

BackgroundIdiopathic indentation of the cardiac ventricles in a fetus has not been previously reported. Reported cases of congenital ventricle indentation are either caused by pericardial abnormalities or myocardial defects. Case report: We describe an incidental finding of annular indentation of the lower part of both ventricles in a stillborn male. The fetus was well-developed and the cause of stillborn was pronounced cord entanglement twice around the neck. Conclusion: Circumferential indentation of ventricles is distinguished from constrictive pericarditis and other myocardial defects as histologically the three layers of endocardium, myocardium, and pericardium are intact.

De Novo KMT2D Heterozygous Frameshift Deletion in a Newborn with a Congenital Heart Anomaly.

Kabuki syndrome (KS) is characterized by typical facial features and patients are also affected by multiple congenital anomalies, of which congenital heart anomalies (CHAs) are present in 28.0 to 80.0%. In approximately 75.0% of patients, the genetic causes of KS are caused by mutation in the KMT2D gene. Although KS is a well-characterized syndrome, reaching the diagnosis in neonates is still challenging. Namely, newborns usually display mild facial features; therefore the diagnosis is mainly based on congenital malformations. In our case, a newborn was referred for next generation sequencing (NGS) testing due to the prenatally observed CHA. After birth, a ventricular septal defect (VSD), vesicoureteral reflux, muscular hypotonia, cleft palate, mild microcephaly, and some dysmorphic features, were noted. The NGS analysis was performed on the proband's genomic DNA using the TruSight One Sequencing Panel, which enriches exons of 4813 genes with clinical relevance to the disease. After variant calling, NGS data analysis was predominantly focused on rare variants in genes involved in VSD, microcephaly, and muscular hypotonia; features observed predominantly in our proband. With the aforementioned protocol, we were able to determine the previously unreported de novo frameshift deletion in the KMT2D gene resulting in translation termination. Although our proband is a typical representative of KS, his diagnosis was reached only after NGS analysis. Our proband thus represents the importance of genotypephenotype driven NGS analysis in diagnosis of patients with congenital anomalies.

Assessment of Late Thromboembolic Complications Post-Fontan Procedure in Relation to Different Antithrombotic Regimens: 30-Years' Follow-up Experience.

Background: The current CHEST guidelines recommend the use of antithrombotic therapy, either aspirin or warfarin, as a primary thromboembolic complications (TECs) prophylaxis in patients who undergo Fontan procedure, without specification on drug selection or duration of therapy. Objective: To investigate the incidence rate of late TECs, occurring after 1-year post-Fontan procedure and to assess the difference in rate of late TECs between warfarin and aspirin. Methods: A retrospective cohort study included patients who had Fontan procedures between 1985-2010 at our institution. Patients were stratified according to the antithrombotic regimen-warfarin, aspirin, or no therapy-at the time of TECs. Results: We screened 499 patients who underwent Fontan procedures; 431 procedures met the inclusion criteria. Over a median follow-up of 13.6 years (IQR= 8.7), freedom from late TECs at 5, 10, 15, and 20 years was 97.54%, 96.90%, 90.78%, and 88.07%, respectively. There was no difference in late TEC incidence rates per 1000 patient-years between warfarin and aspirin: 7.82 and 5.83 events, respectively; rate ratio= 1.34 (95% CI= 0.68-2.60). Warfarin was associated with a higher major bleeding incidence rate per 1000 patient-years: 3.70 versus 2.91 events with aspirin; rate ratio= 1.27 (95% CI= 0.49 to 3.29). Conclusion and Relevance: The incidence rate of late clinical TECs post-Fontan procedure in our population is low. Warfarin was not superior to aspirin for prevention of late TECs. Yet warfarin was associated with a higher rate of bleeding. This finding suggests a simpler antithrombotic regimen for prevention of TEC after 1-year post-Fontan procedure.

Tessier Number 30 Median Mandibular Cleft With Congenital Heart Anomalies in Qena, Egypt.

Median cleft deformities of the lower lip and mandible are very rare congenital anomalies. Our patient had median cleft of the lower lip, mandible, and the chin with tongue duplication, ankyloglossia, and cleft strap muscles with 2 neck contracture bands. This anomaly was associated with congenital heart disease transposition of great vessels, large ventricular septal defect, and severe pulmonary stenosis. Early repair was done at 6 months to improve feeding.

Impact of introduction of 20-week ultrasound scan on prevalence and fetal and neonatal outcomes in cases of selected severe congenital heart defects in The Netherlands.

OBJECTIVES: To evaluate in a population-based cohort the effect of the introduction of the 20-week ultrasound scan in 2007 on the time of diagnosis, pregnancy outcome and total prevalence and liveborn prevalence of cases with selected congenital heart defects (CHDs) in The Netherlands. METHODS: We included children and fetuses diagnosed with selected severe CHD, born in the 11-year period from 2001 to 2011. Two groups of CHD were defined: those associated with an abnormal four-chamber view at ultrasound (Group 1), and those associated with a normal four-chamber view at ultrasound (Group 2). The time of diagnosis, pregnancy outcome and total liveborn prevalence were compared for both groups over two 5-year periods, before and after the introduction of the 20-week ultrasound scan. Trends in total and liveborn prevalence were examined over 2001 to 2011. RESULTS: Information was collected on 269 children and fetuses. After the introduction of the 20-week ultrasound scan, the prenatal detection rate of CHDs increased in both groups (Group 1, 34.6% in 2001-2005 vs 84.8% in 2007-2011 (P < 0.001); Group 2, 14.3% in 2001-2005 vs 29.6% in 2007-2011 (P = 0.037)). The rate of termination of pregnancy (TOP) increased significantly only for Group 1 (15.4% vs 51.5% (P < 0.001)). The total prevalence of CHD in Group 1 increased over time from 2.9 per 10 000 births in 2001 to 6.4 per 10 000 births in 2011 (P = 0.016). The liveborn prevalence did not show a trend over time. For Group 2, no trends in total or liveborn prevalence could be detected over time. CONCLUSIONS: Since the implementation of the routine 20-week ultrasound scan in The Netherlands, prenatal detection rate of selected severe CHDs increased significantly. Improved prenatal detection was accompanied by a more than three-fold increase in TOP, although only in those CHDs with an abnormal four-chamber view at prenatal ultrasound.

The effects of telerehabilitation in adults with complex biventricular congenital heart conditions: protocol for a multi-centre, randomised controlled trial-CH-FIT.

BACKGROUND: Accumulated evidence suggests that exercise training exerts beneficial effects on people with congenital heart conditions. These findings are predominantly derived from small, single-centre exercise trials conducted in outpatient rehabilitation facilities. In recent years, the delivery of exercise interventions remotely has increased through digital communications technology (telerehabilitation). However, very little research to date has been conducted into the efficacy of telerehabilitation in people with a congenital heart condition. AIMS: To evaluate the effects of a telehealth-delivered exercise intervention in people with a history of a surgical biventricular repair due to a congenital heart condition. METHODS: One hundred eligible adolescent (≥ 16 years) and adult participants living with a complex biventricular congenital heart condition will be recruited from four Australian sites and randomised to either (1) a 16-week telehealth-delivered combined (aerobic and resistance) exercise training programme of moderate-to-vigorous intensity or (2) usual care (control group), in a 1:1 allocation, with an 8-month follow-up. OUTCOMES OF INTEREST: The primary outcome will be the change in aerobic capacity expressed as peak oxygen uptake (VO2peak). Secondary outcomes will include changes in vascular function, muscle oxygenation, metabolic profile, body composition and musculoskeletal fitness, neurohormonal activation, neurocognitive function, physical activity levels, dietary and nutritional status, and quality of life. Outcomes will be assessed at baseline, 16 weeks, and 12 months (to determine longer-term maintenance potential). DISCUSSION: If found to be efficacious, telerehabilitation may be an alternative option for delivering exercise, improving health outcomes, and increasing accessibility to exercise programmes. Efficacy data is required to quantify the clinical significance of this delivery mode of exercise. TRIAL REGISTRATION: ACTRN12622000050752 Trial registration date: 17 January 2022 Trial registration URL: https://www.anzctr.org.au/Trial/Registration/TrialReview.aspx?id=382635&showOriginal=true&isReview=true Trial registry name: Australian and New Zealand Clinical Trials Registry.

Rare Vascular Anomalies in an Adult: Absent Left Pulmonary Artery With a Right-Sided Aortic Arch.

Congenital absence of the left pulmonary artery remains a rarely reported anomalous condition and is even less commonly seen in conjunction with a right-sided aortic arch. While most cases are identified during prenatal fetal ultrasonography and require early childhood intervention, some asymptomatic cases can go unrecognized until incidentally detected on chest imaging as an adult. This case details a 31-year-old male with a congenital absence of the left pulmonary artery and right-sided aortic arch with subsequent atretic and fibrotic lung, all found on imaging during admission for acute alcoholic hepatitis.

Presentation and surgical management of a patient with a true cleft mandible.

Clefts involving the mandible and lower lip are very rare, with less than 80 cases having been reported worldwide. The objective of this case report is to highlight this unusual type of facial cleft, and to present the principle features and management typically associated with it. We carefully describe our surgical planning and management of the patient alongside a compilation and comparison of different surgical techniques described in the literature thus far. In this report, we discuss a patient with a cleft of the lower lip, true cleft mandible with independent movements of his mandibular segments, ankyloglossia, and a fistula extending from the mandible to the suprasternal notch complicated with congenital heart abnormalities. We explore the different approaches of when to close the hard and soft tissues, however, there is still no clear surgical protocol for treating cleft mandibles but with more cases and their management and outcomes being reported, this is something which will be useful to develop.

A rare case of common arterial trunk with coarctation of the aorta: a case report.

Background: A common arterial trunk is a relatively uncommon type of congenital heart defect. The anomaly is caused by an incomplete conotruncal septation. Arch anomalies, such as interruption, are associated with 10-20% of cases. We present a rare case of common arterial trunk with coarctation of the aorta and patent ductus arteriosus (PDA). Case summary: A term baby who was discovered to have a murmur on examination, for evaluation of the murmur an echocardiography was performed on Day 2 of life, which revealed the diagnosis of a common arterial trunk and coarctation of the aorta. The baby was given prostaglandin and intubated. Due to his poor general condition, he underwent an emergency pulmonary artery branch banding. He needed another 5 days in the intensive care unit to be stabilized before undergoing full repair. Discussion: Our patient has a common arterial trunk with a tricuspid competent truncal valve. The trunk is subdivided further into ascending aorta and main pulmonary artery. The pulmonary artery provided two branches and a PDA that connected to the descending aorta. The aortic branching pattern was as usual, there was an area of tight coarctation and posterior shelf just after the origin of the left subclavian artery before the descending aorta-PDA junction. The presence of coarctation may be considered as the left side of the spectrum of morphological changes toward the formation of aortic arch interruption (Type 4 Van Praagh).

Co-occurrence of Anomalous Right Coronary Artery Origin and Subaortic Membrane in an Adult Male.

Anomalous origin of the right coronary artery (ARCA) represents <3% of congenital coronary anomalies, while the subaortic membrane represents 6.5% of congenital heart anomalies. Symptomatic co-occurrence of ARCA and subaortic membrane in an adult is rare. A 68-year-old man developed a non-ST-elevation myocardial infarction necessitating percutaneous coronary intervention (PCI) four years prior to presentation at our hospital. In the years after his PCI, he developed progressive exertional breathlessness. Following a positive treadmill EKG, he underwent coronary CT angiography that indicated RCA dominance with ARCA arising from the left coronary sinus and coursing between the ascending aorta and pulmonary artery, causing 50-60% intraluminal narrowing at rest without atherosclerotic plaque. Echo showed normal left ventricular ejection fraction (LVEF) and a surprise finding of the subaortic membrane, with a modest gradient. He underwent successful resection of the subaortic membrane and unroofing of the anomalous RCA tunnel with tract marsupialization. The post-operative period was complicated by arrhythmias necessitating electrical cardioversion. At discharge, he was sent home on apixaban, bisoprolol, aspirin, atorvastatin, and an amiodarone taper. The subaortic membrane would not have required intervention independently because it was not associated with a severe gradient. However, surgery is recommended for symptomatic ARCA or subaortic membrane; hence, our patient underwent surgical management. Atrial fibrillation and flutter are the most common arrhythmias following cardiac surgery. Due to the patient's increased risk of complications, cardioversion and anticoagulation were pursued. Although ARCA is congenital, our patient had been asymptomatic for most of his life, suggesting that the development of the subaortic membrane might have triggered symptom onset, combining a modest subaortic gradient with previously asymptomatic exercise-induced right coronary ischemia. Clinicians should consider evaluating for secondary structural heart conditions in newly symptomatic adult patients with ARCA due to the risk of sudden cardiac death, to provide the most complete treatment.

Fetal transient tricuspid valve regurgitation: sonographic features and clinical evolution.

PURPOSE: To analyze the prevalence, the sonographic features, the clinical evolution and significance of fetal tricuspid valve regurgitation (TR). STUDY DESIGN: This is a prospective study. Serial ultrasound examinations were performed at 20-23, at 26-29 and at 30-34 gestational weeks in 675 consecutive singleton pregnancies with fetal normal growth and normal cardiac anatomy. The fetal tricuspid valve regurgitation was classified according to its duration, to the peak of jet maximum velocity and to its maximum spatial extension. A clinical examination and echocardiography were performed in neonates after birth. RESULTS: During the first examination (20-23 weeks), 32 cases of tricuspid valve regurgitation were identified. The prevalence of tricuspid regurgitation was 4.74%. The large majority of TR cases were not-holosystolic (87.5%), with a maximum velocity below 2 m/sec (80-130 cm/sec in 84% cases and 180-200 cm/sec in 16% cases) and with a little spatial extension (type I or II in 87.5% cases). Following this hemodynamic phenomenon during the following weeks, we found that it disappeared around 29 weeks in all cases. CONCLUSIONS: Tricuspid regurgitation observed during the second trimester can be considered a transient and functional hemodynamic phenomenon, without apparent pathological significance.

A Rare Case of Cor Triatriatum Sinister in Adulthood with Atypical Manifestation.

A 47-year-old man was admitted to the Santa Casa de Misericórdia Hospital in Belo Horizonte, Brazil, with recurrent signs and symptoms of tachycardia, palpitation and fatigue. During medical examination, an electrocardiogram and 24-hour Holter monitoring were performed, which identified a predominant atrial flutter rhythm and, after transthoracic echocardiography, the patient was diagnosed with cor triatriatum sinister. The condition is a rare congenital heart disease characterised by the presence of a fibrous membrane that divides the left atrium into two separate chambers. The disease is especially evident during childhood; however, some cases show no signs until adulthood, which makes the presentation even more unique. In this case, clinical medication and electrical cardioversion were chosen as treatments, which caused progression to sinus rhythm and improvement of symptoms. Therefore, due to the stability of the condition, continuous follow-up with a cardiologist was implemented.

Single-stage hybrid repair of a ruptured Kommerell diverticulum associated with dextrorotation, bovine arch, and bicuspid aortic valve.

BACKGROUND: A strategy for the surgical repair of ruptured Kommerell diverticulum has not yet been established. The aim of this study is to demonstrate that this entity could be associated with a number of other cardiac anomalies and this lesion can be successfully treated by a hybrid approach. CASE PRESENTATION: The patient, with a combination of ruptured Kommerell diverticulum, dextrorotation, bovine arch, and bicuspid aortic valve, underwent emergency surgery. A single stage hybrid surgical/endovascular repair including subclavian artery revascularization, aortic resection with open proximal anastomosis under circulatory arrest, endovascular stenting, and valve repair was performed. Histological studies indicated the presence of the aortic wall media degeneration. Postoperative course was uneventful and patient is free of symptoms during 2-year follow up. CONCLUSIONS: Less invasive hybrid technique is safe and effective treatment option. Accumulated knowledge of Kommerell diverticulum has lead to understanding the best clinical treatment for this complicated aortic anomaly.

Outcomes of hybrid and Norwood Stage I procedures for the treatment of hypoplastic left heart syndrome and its variants.

BACKGROUND: In this study, we present the outcomes of hybrid and Norwood Stage I procedures for the treatment of hypoplastic left heart syndrome and its variants. METHODS: In this study, a total of 97 pediatric patients who were operated due to hypoplastic left heart syndrome and its variants between March 2011 and October 2018 were retrospectively analyzed. Thirty-two of the patients (28 males, 4 females; median age 5 days; range, 1 to 25 days) underwent Norwood Stage I operation (Group N), while the remaining 65 patients (44 males, 21 females; median age 6 days; range, 1 to 55 days) underwent a hybrid procedure (Group H). Both treatment strategies were compared. RESULTS: The median body weight in Group H was significantly lower and the number of patients with a low birth weight (<2,500 g) was significantly higher than Group N (p=0.002 and 0.004, respectively). The postoperative early mortality rate was similar between the groups. Univariate and multivariate analyses revealed that the need for preoperative mechanical ventilation was a significant factor for mortality (p=0.004 and 0.003, respectively). Syndromic appearance was also a significant factor the multivariate analysis (p=0.03). There was a statistically significant difference between the groups in terms of the inter-stage mortality rates (p=0.0045). Second-stage procedure was performed in 32 patients. The early mortality rate after the Glenn operation was 7.6%. Six patients died after comprehensive Stage II operation. Five patients underwent biventricular repair and 8 patients had third-stage fenestrated extracardiac Fontan operation (Group N, n=7 and Group H, n=1). The Kaplan-Meier survival curve demonstrated that Group N had a higher survival rate at both one and five years than Group H, although the difference was not statistically significant (p=0.15). Subgroup analysis showed that the Norwood procedure with Sano modification had the highest survival rate with 40% at five years. CONCLUSION: Our study results show that patients undergoing the Norwood procedure have a more uneventful course of inter-stage period and Stage II and III, despite drawbacks early after Stage I procedure. Based on our experiences, we recommend performing the hybrid intervention in patients with a poor clinical condition and a body weight of <2,500 g.

Associations between toxic and essential trace elements in maternal blood and fetal congenital heart defects.

Prenatal exposure to toxic trace elements, including heavy metals, is an important public health concern. Few studies have assessed if individual and multiple trace elements simultaneously affect cardiac development. The current study evaluated the association between maternal blood lead (Pb), cadmium (Cd), chromium (Cr), copper (Cu), mercury (Hg), and selenium (Se) levels and congenital heart defects (CHDs) in offspring. This hospital-based case-control study included 112 case and 107 control infants. Maternal peripheral blood draw was made during gestational weeks 17-40 and used to determine trace element levels by inductively coupled plasma mass spectrometry. Multivariable logistic regression was used to assess associations and interactions between individual and multiple trace elements and fetal CHDs, adjusted for maternal age, parity, education, newborn gender, migrant, folic acid or multivitamin intake, cigarette smoking, maternal prepregnancy body mass index, and time of sample collection. Control participants had medians of 2.61µg/dL Pb, 1.76µg/L Cd, 3.57µg/L Cr, 896.56µg/L Cu, 4.17µg/L Hg, and 186.47µg/L Se in blood. In a model including all measured trace elements and adjusted for confounders, high levels of maternal Pb (OR=12.09, 95% CI: 2.81, 51.97) and Se (OR=0.25, 95% CI: 0.08, 0.77) were harmful and protective predictors of CHDs, respectively, with positive and negative interactions suggested for Cd with Pb and Se with Pb, respectively. Similar associations were detected for subgroups of CHDs, including conotruncal defects, septal defects, and right ventricle outflow tract obstruction. Our results suggest that even under the current standard for protecting human health (10µg/dL), Pb exposure poses an important health threat. These data can be used for developing interventions and identifying high-risk pregnancies.

The hemi-Mustard, bidirectional Glenn and Rastelli procedures for anatomical repair of congenitally corrected transposition of the great arteries/left ventricular outflow tract obstruction with positional heart anomalies†.

OBJECTIVES: The hemi-Mustard and bidirectional Glenn (BDG) procedures combined with the Rastelli procedure have been applied to selected cases of congenitally corrected transposition of the great arteries (ccTGA) for potential benefit over the classic atrial switch procedure. The aim of this study was to analyse our experience with the hemi-Mustard, BDG and Rastelli procedures as an anatomical correction for patients with ccTGA/left ventricular outflow tract obstruction (LVOTO) with positional heart anomalies. METHODS: In this retrospective study, 31 consecutive patients with corrected transposition underwent the hemi-Mustard/BDG procedures with the Rastelli operation between 2011 and 2015. The median age was 5.4 (range: 0.75-12) years. Positional anomalies were present in all patients. Eleven patients underwent BDG initially; they then had the second-stage hemi-Mustard and Rastelli procedures; 'one-stage repair' (hemi-Mustard/BDG and the Rastelli procedures) was performed in 20 cases. RESULTS: There were no in-hospital deaths, and 3 patients received a pacemaker. One patient had an atrial baffle obstruction that was observed in the early postoperative period; 7 patients had prolonged pleural effusions that developed more frequently in the one-stage repair group (7/20 vs 0/11, P = 0.033). During the mean follow-up of 3.3 years, 1 late death was noted, and no conduit replacements were required. Twenty-five (83.3%) patients are in New York Heart Association classes I and II at the latest follow-up. CONCLUSIONS: Hemi-Mustard, BDG and the Rastelli procedures are technically feasible for correction of ccTGA/left ventricular outflow tract obstruction (LVOTO) and cardiac malposition. Nevertheless, postoperative pleural effusion is the most prevalent complication in the one-stage repair. Two-stage repair may reduce the risk of pleural effusion-related complications.

Incidental Finding of an Isolated Double-orifice Mitral Valve in an Asymptomatic Man.

Double-orifice mitral valve (DOMV) is a very rare congenital anomaly that usually presents as mitral regurgitation. We present the case of a 39-year-old asymptomatic, healthy man with no previous medical history who was affected by isolated complete bridge type DOMV, incidentally detected by two-dimensional echocardiographic examination in the parasternal short-axis view. The mitral valve of the patient was normally functioning without any other coexistent cardiac abnormalities. Isolated DOMV was also confirmed by cardiac magnetic resonance imaging. The patient is now followed up to detect possible complications.

Cardiac anomalies in a group of HIV-infected children in a pediatric hospital: an echocardiographic study in Yaounde, Cameroon.

BACKGROUND: Cardiac manifestations associated with the HIV infection are known adversely prognosis in adults and children, even at the infraclinical stage. Although cardiac complications of HIV infection are well described in adults, there are few reports in the paediatric age group. We performed echocardiography on a group of HIV-infected children in order to describe the spectrum of the anomalies associated with the HIV infection. METHODS: We carried out a cross-sectional descriptive study on a cohort of HIV-infected children followed-up in a children's out-patient clinic. All had a thorough clinical evaluation and transthoracic echocardiography with Doppler flux analysis. The data collected were analyzed with SPPS 18.0, IBM, Chicago. Statistical significance was set at P value <0.05. RESULTS: One hundred children (52 males and 48 females) were studied. Their ages ranged from 1 to 15 years with a mean of 7 years. Forty four (44%) and 33 (33%) of the children were in World Health Organization (WHO) clinical stage III and IV respectively. Fifty seven (57%) did not have any significant immune depression. The mean age at diagnosis of HIV infection was 3 years. Ninety one percent of the participants were on highly active antiretroviral therapies (HAART). At least one cardiac abnormality was found in 89% of the participants; right ventricular (RV) dilatation in 76%, LV diastolic dysfunction in 32%, LV hypertrophy in 12%, pericardial effusion in 11% and LV systolic dysfunction in 2%. These abnormalities were more prevalent in late stages of the infection. CONCLUSIONS: Cardiac abnormalities are frequent in HIV-infected children, most of which remain asymptomatic. Routine echocardiography in HIV infected children will aid prompt diagnosis.

Arsenic in drinking water and congenital heart anomalies in Hungary.

Inorganic arsenic can get easily through the placenta however there are very few human data on congenital anomalies related to arsenic exposure. Objective of our study was to explore the associations between arsenic content of drinking water and prevalence of some congenital anomalies. Four anomalies reported to the Hungarian Congenital Anomalies Registry between 1987 and 2003 were chosen to be analysed in relation to arsenic exposure: congenital anomalies of the circulatory system (n=9734) were considered as cases, while Down syndrome, club foot and multiple congenital malformations were used as controls (n=5880). Arsenic exposure of the mothers during pregnancy was estimated by using archive measurement data for each year and for each settlement where the mothers lived. Analysis of the associations between the prevalence of congenital heart anomalies and arsenic exposure during pregnancy was performed by logistic regression. The child's gender and age of the mother were adjusted for. The associations were evaluated by using the present EU health limit value of 10.0 µg/L arsenic concentration as a cut-off point. Regular consumption of drinking water with arsenic concentration above 10 µg/L during pregnancy was associated with an increased risk of congenital heart anomalies in general (adjusted OR=1.41; 95% C.I.: 1.28-1.56), and especially that of ductus Botalli persistens (adjusted OR=1.81, 95%C.I.: 1.54-2.11) and atrial septal defect (adjusted OR=1.79; 95%C.I.: 1.59-2.01). The presented results showed an increased risk of congenital heart anomalies among infants whose mothers were exposed to drinking water with arsenic content above 10 µg/L during pregnancy. Further studies of possible similar effects of concentrations below 10 µg/L are warranted.