Angiopoietin-2 predicts morbidity in adults with Fontan physiology.

Morbidity in patients with single-ventricle Fontan circulation is common and includes arrhythmias, edema, and pulmonary arteriovenous malformations (PAVM) among others. We sought to identify biomarkers that may predict such complications. Twenty-five patients with Fontan physiology and 12 control patients with atrial septal defects (ASD) that underwent cardiac catheterization were included. Plasma was collected from the hepatic vein and superior vena cava and underwent protein profiling for a panel of 20 analytes involved in angiogenesis and endothelial dysfunction. Ten (40%) of Fontan patients had evidence of PAVM, eighteen (72%) had a history of arrhythmia, and five (20%) were actively in arrhythmia or had a recent arrhythmia. Angiopoietin-2 (Ang-2) was higher in Fontan patients (8,875.4 ± 3,336.9 pg/mL) versus the ASD group (1,663.6 ± 587.3 pg/mL, p < 0.0001). Ang-2 was higher in Fontan patients with active or recent arrhythmia (11,396.0 ± 3,457.7 vs 8,118.2 ± 2,795.1 pg/mL, p < 0.05). A threshold of 8,500 pg/mL gives Ang-2 a negative predictive value of 100% and positive predictive value of 42% in diagnosing recent arrhythmia. Ang-2 is elevated among adults with Fontan physiology. Ang-2 level is associated with active or recent arrhythmia, but was not found to be associated with PAVM.

Analysis of NKX2-5 in 439 Chinese Patients with Sporadic Atrial Septal Defect.

BACKGROUND The NKX2 gene family is made up of core transcription factors that are involved in the morphogenesis of the vertebrate heart. NKx2-5 plays a pivotal role in mouse cardiogenesis, and mutations in NKx2-5 result in an abnormal structure and function of the heart, including atrial septal defect and cardiac electrophysiological abnormalities. MATERIAL AND METHODS To investigate the genetic variation of NKX2-5 in Chinese patients with sporadic atrial septal defect, we sequenced the full length of the NKX2-5 gene in the participants of the study. Four hundred thirty-nine patients and 567 healthy unrelated individuals were recruited. Genomic DNA was extracted from the peripheral blood leukocytes of the participants. DNA samples from the participants were amplified by multiplex PCR and sequenced on an Illumina HiSeq platform. Variations were detected by comparison with a standard reference genome and annotation with a variant effect predictor. RESULTS Thirty variations were detected in Chinese patients with sporadic atrial septal defect, and 6 single nucleotide polymorphisms (SNPs) had a frequency greater than 1%. Among the 30 variations, the SNPs rs2277923 and rs3729753 were extremely prominent, with a high frequency and odds ratio in patients. CONCLUSIONS Single nucleotide variations are the prominent genetic variations of NKX2-5 in Chinese patients with sporadic atrial septal defect. The SNPs rs2277923 and rs3729753 are prominent single nucleotide variations (SNVs) in Chinese patients with sporadic atrial septal defect.

NKX2-5 molecular screening and assessment of variant rate and risk factors of secundum atrial septal defect in a Moroccan population.

OBJECTIVE: Secundum atrial septal defect (ASDII) has multifactorial etiology that is combination of environmental (e.g., mother's exposure to toxicity, ethnicity) and genetic causes. Aim of the present study was to screen a Moroccan population with ASDII for NKX2-5 variants and to assess risk factors that may contribute to emergence of the disorder. METHODS: Thirty-two non-syndromic ASDII patients were screened for NKX2-5 variants using direct sequencing of polymerase chain reactionamplified coding regions. Risk factor rates were compared to general population and assessed using Fisher's exact and chi-square tests. In this retrospective study, criteria of exclusion were suggestive or confirmed syndrome association. RESULTS: Three heterozygous variants were detected in 4 patients. NKX2-5 variant rate in present cohort is estimated to be about 9.4%. Two prominent risk factors in the Moroccan population were highlighted: consanguinity, rate of which was significantly high at 30.8%, and previous maternal miscarriage or sibling sudden death, observed in 34.6% of cohort. CONCLUSION: Impact of identified variants was discussed and possible disease-predisposing effect is suggested. Findings indicate that ASD may be favored by consanguineous marriage and that NKX2-5 variant rate in ASD patients may be affected by ethnicity. High level of maternal miscarriage and sibling sudden death suggests potential non-sporadic nature as result of putative genetic defect.

Clinical expression of Holt-Oram syndrome on the basis of own clinical experience considering prenatal diagnosis.

OBJECTIVES: Holt-Oram syndrome manifests with defects of upper limbs, pectoral girdle and cardiovascular system. The aim of this paper was to present complex clinical picture of the syndrome and its variable expression on the example of the family diagnosed genetically on the neonatal ward, after proband's prenatal examination. MARETIAL AND METHODS: Nine family members were tested for TBX5 gene mutation. RESULTS: Four of family members were diagnosed with Holt-Oram syndrome and five had correct genetic test results. The diagnosis allowed to identify a genetic risk family and enabled to provide them with genetic counselling. CONCLUSIONS: Diagnosis of Holt-Oram syndrome is possible as early as in prenatal period and it can be verified by genetic tests.

Altered Cisatracurium Pharmacokinetics and Pharmacodynamics in Patients with Congenital Heart Defects.

The neuromuscular blocking agent cisatracurium is frequently used adjunctively in anesthesia to facilitate endotracheal intubation and to provide muscle relaxation during surgery. We aimed to determine the pharmacokinetics (PK)/pharmacodynamics (PD) of cisatracurium in patients with congenital heart defects (CHDs), such as ventricular septal defects and atrial septal defects, and to assess the effects of CHDs on the PK/PD profiles of cisatracurium. A modified two-compartment model with drug clearance from both compartments was best fitted to the PK data to determine the PK parameters. The model suggested that septal defects significantly lowered the rate of cisatracurium distribution from the central to peripheral compartment. The intercompartment rate constants k12 and k21 were significantly reduced (35%-60%, P < 0.05) in patients with ventricular septal defects and in patients with atrial septal defects compared with control patients. Consistently, septal defects caused a marked increase (160%-175%, P < 0.001) in the distribution half-life. Furthermore, significantly delayed pharmacodynamic responses to cisatracurium were observed in patients with septal defects. The onset time (i.e., the time to maximal neuromuscular block) was prolonged from 2.2 minutes to 5.0 minutes. PK/PD modeling suggested that reduced concentrations of cisatracurium in the effect compartment due to poorer distribution were the main cause of lagged pharmacodynamic responses. In conclusion, cisatracurium PK/PD were significantly altered in patients with septal defects. Our study should be of use in clinical practice for the administration of cisatracurium to patients with CHDs.

Procoagulant activity induced by transcatheter closure of atrial septal defects is associated with exposure of phosphatidylserine on microparticles, platelets and red blood cells.

The mechanism of hypercoagulable state following transcatheter closure of atrial septal defects (ASDs) remains unclear. We evaluated the exposure of phosphatidylserine (PS) on released microparticles (MPs) and also the cells of their origin from peripheral blood, and the associated increase in procoagulant activity (PCA) following transcatheter ASD closure. We demonstrate that PS(+) MP levels were elevated immediately after device implantation (P <0.002), peaked at 24hour (P <0.002), and persisted at high levels for 1-week post procedure (P <0.002). Flow cytometry analysis indicated that PS(+) MPs were mainly derived from platelets, endothelial cells, and the red blood cells (RBCs). Concomittantly, PS(+) platelet and RBC count also increased after transcatheter closure of ASDs, while PS(+) leukocytes levels remained the same. Compared to the baseline, coagulation time of PS(+) MPs, platelets, and RBCs at 24hours post procedure decreased by about 18.7% (P <0.004), 21.5% (P <0.001), and 26.8% (P <0.001), respectively. Intrinsic factor Xa and prothrombinase were produced abundantly by platelets, RBCs, and MPs leading to materialization of fibrin by 24hours. Additionally, Xase complex formation and thrombin generation was inhibited by about 74% by the addition of lactadherin to the assays. Our results thus demonstrate that PS exposure on MPs, platelets, and RBCs play an important role in hypercoagulability following transcatheter ASD closure.

Changes in Plasma Atrial and Brain Natriuretic Peptide Levels in Children Undergoing Surgical Isolated Atrial Septal Defect Closure.

Plasma atrial natriuretic peptide (ANP) and brain natriuretic peptide (BNP) levels increase after cardiopulmonary bypass (CPB) in pediatric patients. However, the exact reason for the postoperative increase remains unclear. This study elucidated the perioperative changes in plasma natriuretic peptide levels in children undergoing surgical isolated atrial septal defect (ASD) closure. Between 2010 and 2012, 24 pediatric patients (median 7.1, range 2.7-15.7 years) underwent surgery for simple ASD using CPB under ventricular fibrillation (Group A, 16 patients) or under cardiac arrest (Group B, 8 patients). Natriuretic peptide levels were measured before surgery, on postoperative day 0, 1, 3, and at the first outpatient visit. The pulmonary to systemic blood flow ratio (Qp/Qs) was estimated by echocardiography using an index of right ventricle end-diastolic area. Preoperative natriuretic peptide levels positively correlated with the Qp/Qs. Plasma ANP levels peaked on postoperative day 0, and its values were higher in Group A than in Group B patients (p < 0.001). Plasma BNP levels increased significantly in both Groups on postoperative day 1, and its values were significantly greater in Group A than in Group B patients (p = 0.007). There was a weak negative correlation between the amount of postoperative increase in natriuretic peptide levels and the Qp/Qs. There was no appreciable difference in the acute postoperative clinical course and echocardiographic parameter on postoperative day 3 between Group A and B patients. In conclusion, acute postoperative natriuretic peptide levels after isolated ASD closure were multifactorial, and they might be unreliable for predicting clinical outcomes.

Platelet activation through the efficacy of aspirin in congenital heart disease patients undergoing transcatheter closure of atrial septal defects or ventricular septal defects.

OBJECTIVES: The aim of this study is to compare preoperative and postoperative conditions of GMP-140 concentration, the aggregation and activation of platelets in congenital heart disease patients undergoing transcatheter closure of atrial septal defects (ASDs) or ventricular septal defects (VSDs), and the appropriate dose of aspirin of patients after transcatheter closure. MATERIALS AND METHODS: Thirty-two consecutive patients with ASD (n=16) and VSD (n=16), as shown on transthoracic echocardiography and right heart catheter examination, were treated with a percutaneous catheter occlusion. The patients comprised 13 males and 19 females with a mean age of 25.6±9.15. Patients were randomly assigned into two groups within half an hour after ASD or VSD occlusion. Group A cases were treated with 3 mg/kg/day enteric-coated aspirin tablets for 6 months, while patients in group B received 5 mg/kg/day enteric-coated aspirin tablets for 6 months. RESULTS: The rates of platelet aggregation (PAG) in the immediate postoperative ASD/VSD occlusion were significantly higher than those in the preoperative ASD/VSD occlusion (adenosine diphosphate [ADP]-induced PAG: 64.98%±7.65% vs. 86.33%±6.54%, p<0.05; arachidonic acid [AA]-induced PAG: 62.92%±9.11% vs. 86.96%±6.90%, p<0.05, respectively). After treatment with aspirin, the GMP-140 levels presented a clearly defined downward trend in the immediate postoperative period (3 mg/kg/day aspirin: 18.30±3.42 vs. 13.37±1.80, p<0.05; 5 mg/kg/day aspirin: 18.30±3.42 vs. 13.41±1.60, p<0.05), but no obvious difference was observed considering the GMP-140 levels in the 4 days after occlusion (all p>0.05). CONCLUSION: Our study showed that the GMP-140 serum level and PAG were increased after ASD and VSD occlusion, and patients may have a trend of decreased GMP-140 serum levels after the ASD or VSD occlusion surgeries after the treatment with aspirin. Daily oral administration of 3 and 5 mg/kg/day aspirin can induce a significant decrease in PAG of patients after VSD/ASD occlusion.

Elevated level of plasma endothelin-1 in patients with atrial septal defect.

BACKGROUND: The study aimed to assess the level of plasma Endothelin-1 (ET-1) in patients before and after transcatheter closure of atrial septal defect (ASD) and to evaluate the usefulness of measuring ET-1 levels for the diagnosis and selection of candidates for ASD closure. METHODS: 80 patients (55 F, 25 M), mean age 42,2 ± 11,5 years were enrolled for an attempt at ASD closure. A group of 19 healthy volunteers, (12 F, 7 M) mean age 39.2 ± 9.15 served as controls. All ASD patients underwent: clinical and echocardiographic study and cardiopulmonary exercise test. ET-1 levels were measured before and after closure. Whole blood was collected from femoral artery and vein and from pulmonary artery during cardiac catheterization. RESULTS: ET-1 levels at peripheral artery and vein in ASD patients were significantly higher than in the volunteers (p < 0.0001). The ASD subjects with highest ET-1 level presented the larger area of right ventricle and right atrium and higher pulmonary artery systolic pressure(p < 0.05). The ASD subjects with lower ET-1 level demonstrated longer time of exercise and higher peak oxygen consumption (p < 0.05). There was a decrease of ET-1 at peripheral artery (5.128 ± 8.8 vs. 2.22 ± 6.2; p < 0.001) and at peripheral vein (4.401 ± 3.33 vs. 2.05 ± 1.35; p < 0.001) within 48 hours after ASD closure, as compared to the baseline data. After 6 and 12 months farther drop in ET-1 level was observed. CONCLUSIONS: 1. The level of ET-1 in ASD patients is elevated in compare to healthy subject.2. The significant reduction of ET-1 level is observed after percutaneous closure of ASD.3. Elevated level of ET-1 in patients with ASD is associated with right heart enlargement.4. Measurements of ET-1 may be a supplemental diagnostic tool and may be helpful in establishing indications for defect closure.

Mean platelet volume levels predict pulmonary artery hypertension in patients with atrial septal defect.

INTRODUCTION: Some reports have shown increased platelet aggregation and activation in patients with pulmonary artery hypertension (PAH). Mean platelet volume (MPV) is a simple and easy method of assessing platelet function. We aimed to investigate the mean platelet volume levels in patients with atrial septal defect (ASD) and the association between MPV levels and pulmonary artery hypertension. METHOD: One hundred and forty consecutive patients (42 males and mean age 35 +/- 9 y) and forty healthy controls (15 males and mean age 35 +/- 4 y) were enrolled in the study between December 2008 and February 2011. RESULTS: The ASD group demonstrated a significantly higher right ventricular size and pulmonary artery pressure than the control group (42 +/- 4 mm vs. 36 +/- 3 mm and 43 +/- 12 mmHg vs. 32 +/- 11 mmHg; P < 0.001 and P < 0.001, respectively). MPV levels were higher in the ASD group than the control group (9.3 +/- 1.2 fl vs. 8.6 +/- 0.8 fl, P < 0.001). There was a significant, positive correlation between MPV and systolic pulmonary artery pressure (PAP) (r = 0.542 and P < 0.001) in the ASD group. MPV was also significantly correlated with right ventricular size but not ASD diameter in the ASD group (r = 0.441, P < 0.001 and r = 0.126, P = 0.268, respectively). In receiver operating characteristics curve analysis, the cut-off value of MPV levels was > 8.7 fl and had 82% sensitivity and 63% specificity in predicting pulmonary artery hypertension. CONCLUSION: In the present study, we found that MPV levels, an indicator of platelet activation, were significantly higher in patients with ASD and correlated with systolic pulmonary artery pressure and right ventricular diameter.

Circulating ghrelin was negatively correlated with pulmonary arterial pressure in atrial septal defect patients.

BACKGROUND: Ghrelin was found to attenuate the magnitude of pulmonary arterial hypertension and pulmonary vascular remodeling in rats. The objective of this study was to explore the fasting plasma ghrelin level and the relationships between ghrelin and pulmonary arterial pressure (PAP) in atrial septal defect (ASD) patients with pulmonary arterial hypertension (PAH). METHODS: Fasting plasma ghrelin, obestatin, and insulin levels were measured by enzyme linked immunosorbent assay (ELISA) method in ASD patients with or without PAH according to the manufacturer's instructions. Insulin resistance was calculated by the homeostasis model of assessment for insulin resistance (HOMA-IR) approach, calculated as fasting insulin (microunits/ml)× fasting blood glucose (mmol/L)/22.5. Comparisons between the parameters of patients with PAH and those of patients with normal PAP were performed with an unpaired Student's t test. The relationships between ghrelin and various clinical parameters were examined by bivariate correlations and multiple regression analysis. RESULTS: We found that the fasting plasma ghrelin level and the ratio of ghrelin to obestatin were significantly lower in the PAH group compared with the control group ((582.4±12.8) pg/ml vs. (1045.2±95.5) pg/ml, P < 0.05 and 30.5±4.9 vs. 70.0±9.7, P < 0.01). The fasting plasma obestatin level was higher in the PAH group compared with the control group, but the difference between them was not significant ((23.2±3.1) pg/ml vs. (16.3±1.6) pg/ml, P > 0.05). In a multiple regression model analysis, only mean PAP was an independent predictor of ghrelin and the ratio of ghrelin to obestatin (standardized coefficient = -0.737, P < 0.001 and standardized coefficient = -0.588, P = 0.006, respectively). CONCLUSION: Ghrelin is negatively correlated with mean PAP and this suggests that circulating ghrelin might predict the severity of pulmonary hypertension in ASD patients with PAH.

Heart failure after transvenous closure of atrial septal defect associated with atrial standstill and thiamine-responsive megaloblastic anemia.

Despite advances in device closure for atrial septal defect, post-closure heart failure remains a clinical problem in adult patients but is seen only rarely in children. An eight-year-old boy, who had been followed by a local pediatrician with the diagnosis of diabetes mellitus and congenital heart disease, was consulted to us for cardiac re-evaluation. Electrocardiography demonstrated absent P waves, and echocardiography revealed enlargement of the right ventricle and both atria and secundum atrial septal defect. With the diagnosis of atrial standstill, secundum atrial septal defect and thiamine-responsive megaloblastic anemia, acute heart failure developed after transvenous closure of the atrial septal defect, which improved dramatically with thiamine and supportive treatment.

Use of dopamine infusion improved oxygenation in a patient of Ebstein's anomaly with atrial septal defect.

We present the successful perioperative management of an adult patient with Ebstein's anomaly for abdominal rectopexy surgery. The patient developed mild hypotension and a fall in peripheral oxygen saturation (SpO 2 ) after administration of a graded epidural block. Correction of the fall in the blood pressure; however, did not improve the SpO 2 . The patient was administered an intravenous infusion of dopamine to improve the cardiac output and this led to improvement in the SpO 2 .

Safety and efficacy of nano lamellar TiN coatings on nitinol atrial septal defect occluders in vivo.

Atrial septal defect (ASD) occlusion devices made of nickel-titanium (NiTi) have a major shortcoming in that they release nickel into the body. We modified NiTi occluders using Arc Ion Plating technology. Nano lamellar titanium-nitrogen (TiN) coatings were formed on the surfaces of the occluders. The safety and efficacy of the modified NiTi occluders were evaluated in animal model. The results showed that 38 out of 39 rams (97%) survived at the end of the experiment. Fibrous capsules formed on the surfaces of the devices. Gradual endothelialization took place through the attachment of endothelial progenitor cells from the blood and the migration of endothelial cells from adjacent endocardium. The neo-endocardium formed more quickly in the coated group than in the uncoated group, as indicated by the evaluation of the six month study group. After TiN coating, there was no significant difference in endothelial cell cycle. TiN coating significantly reduced the release of nickel in both in vivo and in vitro indicating an improved biocompatibility of the nitinol ASD occluders. Superior and modified ASD occluders may provide a good choice for people with nickel allergies after sFDA registration, which is expected in one to two years.

Plasma N-terminal pro-brain natriuretic peptide levels are positively correlated with pulmonary arterial pressure in atrial septal defect patients.

N-terminal pro-brain natriuretic peptide (NT-proBNP), a pro-hormone secreted by the myocardium in response to various stimuli, was found to be correlated with several hemodynamic parameters in pulmonary hypertension associated with systemic sclerosis. We investigated plasma NT-proBNP levels and the relationships between NT-proBNP and several hemodynamic parameters in atrial septal defect (ASD) patients with or without pulmonary arterial hypertension (PAH). We found that plasma NT-proBNP level was significantly higher in PAH group compared with the control group (5495.4±388.4 pg/ml vs 4005.1±260.5 pg/ml, P<0.05). In a multiple regression model analysis, only mean pulmonary arterial pressure was an independent predictor of NT-proBNP (standardized coefficient=0.663, P=0.002). In the PAH group, only right atrial systolic pressure was found to be positively correlated with NT-proBNP, whereas other parameters were not found to be correlated with NT-proBNP. Our data suggests that NT-proBNP might also be a predictor of the severity of pulmonary hypertension in the ASD patients.

The usefulness of brain natriuretic peptide in simple congenital heart disease - a systematic review.

Brain natriuretic peptide and N-terminal pro-brain natriuretic peptide are two well-established markers for cardiac failure in acquired heart disease. Nevertheless, the clinical utility of these markers in patients with congenital heart disease remains unclear. Therefore, the aim of this study was to evaluate the diagnostic and prognostic value of these markers in patients with congenital heart disease. A PubMed and EMBASE literature search was executed with focus on the most common simple congenital heart defects, atrial septal defect and ventricular septal defect. Data on brain natriuretic peptide measurement, cardiac function parameters, and follow-up were collected. In patients with atrial or ventricular septal defect, brain natriuretic peptide levels were mildly increased when compared with healthy age-matched controls. Shunt severity and pulmonary artery pressure correlated strongly with natriuretic peptide levels. A clear association between brain natriuretic peptide and functional class was demonstrated. After closure of the defect, a rise in brain natriuretic peptide levels in the first hours to days was observed. After longer follow-up, natriuretic peptide levels decreased and became comparable to pre-procedural values. In conclusion, this systematic review shows that brain natriuretic peptide levels are mildly increased in patients with unrepaired and repaired atrial or ventricular septal defect. Brain natriuretic peptide measurement might be a useful additional tool in the diagnostic work-up of patients with atrial or ventricular septal defect. Further investigation in a larger, prospective study with long-term follow-up is warranted to elucidate the true prognostic value of natriuretic peptides in patients with simple congenital heart disease.

Importance of adhesion molecules for children with congenital heart disease.

BACKGROUND: The aim of our study was to compare the blood levels of adhesion molecules in children with different heart diseases and pulmonary flow rates. METHODS: In this study, we evaluated the levels of soluble intercellular adhesion molecule-1 and soluble vascular cellular adhesion molecule-1 in blood samples of 65 children with different congenital heart diseases. The patients were divided into four groups according to their pulmonary blood flow. The first group had increased pulmonary blood flow with pulmonary hypertension and left-to-right shunt. The second group had increased pulmonary blood flow without pulmonary hypertension and left-to-right shunt. The third group had decreased pulmonary blood flow with cyanotic congenital heart disease and the fourth group had normal pulmonary blood flow with left ventricle outflow tract obstruction and aortic stenosis. RESULT: The highest soluble intercellular and vascular cellular adhesion molecule-1 levels with the mean values of 420.2 nanograms per millilitre and 1382.1 nanograms per millilitre, respectively, were measured in the first group and the lowest levels with the mean values of 104.4 and 358.6 nanograms per millilitre, respectively, were measured in the fourth group. The highest pulmonary blood pressure levels were found in the first group. CONCLUSION: Endothelial activity is influenced not only by left-to-right shunt with pulmonary hypertension, but also by decreased pulmonary blood flow in cyanotic heart diseases. Adhesion molecules are valuable markers of endothelial activity in congenital heart diseases, and they are influenced by pulmonary blood flow rate.

Cardiac troponin I in congenital heart defects with pressure or volume overload.

OBJECTIVE: To evaluate the prevalence of cardiac troponin I (cTnI) and autoantibodies to cTn in children with congenital heart defects with volume or pressure overload fulfilling the criteria for treatment, and in healthy children. DESIGN: The study groups comprised 78 children with volume overload caused by an atrial septal defect or a patent ductus arteriosus, and 60 children with pressure overload caused by coarctation of the aorta or stenosis of the aortic or the pulmonary valve, and 74 healthy controls. Serum levels of natriuretic peptides, cTnI, and autoantibodies to cTn were analyzed at baseline, prior to treatment and in 64 patients 6 months after treatment. RESULTS: At baseline, one child with volume overload, 12 children with pressure overload, and one healthy control had positive cTnI. Further analysis of the pressure overload subgroup revealed that the children with positive cTnI were younger than those with negative cTnI, and had higher levels of natriuretic peptides. The pressure gradient at the coarctation site or stenotic valve was higher in those with positive TnI. Six months after treatment, 63 of 64 children examined were cTnI negative. CONCLUSIONS: The cTnI release is more frequently associated with pressure than volume overload which resolves after treatment in most children.

Percutaneous closure of atrial right-to-left shunt in patients with Ebstein's anomaly of the tricuspid valve.

AIMS: Patients with Ebstein's anomaly of the tricuspid valve may have right-to-left shunt at atrial level resulting in hypoxaemia, high haematocrit and hyperviscosity syndrome. The purpose of this study was to assess the results of percutaneous closure of atrial right-to-left shunt in patients with Ebstein's anomaly. METHODS AND RESULTS: Records of patients treated between January 2002 and June 2010 were reviewed. Their condition before and after shunt closure (clinical data, oxygen saturation and haematocrit) were studied. During this period nine selected patients with Ebstein's anomaly and right-to-left shunt at atrial level were treated. Ages ranged from six to 67 years; seven were male. Mean pulmonary artery pressures were under 25 mmHg in all. Three patients had previous episodes of stroke and three had very high haematocrit, two of whom required therapeutic phlebotomies. Test occlusion of the shunt was performed in all patients with a balloon catheter, revealing an increase in systemic oxygen saturation, with right atrial pressures remaining <18 mmHg in all. Percutaneous closure of atrial shunt was achieved in all. There were no major complications. Arterial oxygen saturations increased in all patients from 85.0 ± 4.5% to 96.7 ± 1.5% (mean ± standard deviation). Medium follow-up was five years. The three patients with very high haematocrit levels had a decrease in its values from 62.9 ± 2.8% to 45.5 ± 3.9% after device occlusion. Both therapeutic phlebotomy programs were discontinued. All patients reported a marked improvement in effort tolerance. CONCLUSIONS: Percutaneous closure of atrial right-to-left shunt in selected patients with Ebstein's anomaly offers significant improvement, abolishing hypoxaemia and hyperviscosity and preventing paradoxical embolisation.