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Objectives: When cardiac muscle damage occurs, cardiac troponins are released to blood and their detection is used as a marker in clinical setting. The prognostic value of the quantitative levels of blood troponin I in cases of myocarditis and myopericarditis is unclear. The aim of this study was to analyse whether troponin quantitative blood levels can be correlated with the course of hospitalisation and prognosis. Methods: Retrospective data was collected from all consecutive patients aged ≤30 hospitalised with a diagnosis of acute myocarditis or acute myopericarditis in our health Care Campus between the years 2010–2016. Results: Ninety-three patients with myocarditis and myopericarditis were identified. Higher peak troponin levels correlated with longer hospitalisation times in the cardiac or paediatric wards (p = 0.03, Pearson correlation: r −0.23), and median troponin level at admission correlated with longer overall hospitalisation (p = 0.026, Pearson correlation: r = 0.23). Patients admitted to ICU, received oral cardiac supportive therapy or that were discharged with cardiac drugs had higher median troponin compared to patients who were not but this was not statistically significant. A small group of patients that needed intravenous cardiac support had significantly lower median peak troponin levels (n = 4, 0.375ng/ml, p = 0.048). Only two patients needed extracorporeal membrane oxygenation support, and one died. The small number of patients precludes statistical analysis. Conclusion: Higher troponin levels correlated significantly with longer hospitalisation, lower troponin values correlated with intravenous cardiac support, while other variables related to the severity of disease could not be significantly related to higher troponin levels.

Congenital long QT syndrome (LQTS) is a cardiac channelopathy that leads to the prolongation of the QT interval. This prolongation can lead to ventricular tachyarrhythmia, syncope, and sudden cardiac death. There are various types of LQTS. Treatment of LQT1 and LQT2 is mainly based on antiadrenergic therapy. LQT3, on the other hand, is a result of a mutation of the SCN5A gene, which encodes the sodium channels. In this type, patients are sensitive to vagal stimuli and episodes tend to occur at rest. Sodium channel blocking compounds, such as ranolazine, mexiletine, and flecainide, have been found to be effective in selective mutations.In this case report, we report the case of a child with congenital LQT3 (V411M) who presented first with sudden cardiac death and three weeks later with an implantable cardioverter defibrillator storm. Knowing the specific mutation and understanding the mechanism at the molecular level through an in vitro study yielded a clinically meaningful result. The patient's arrhythmia burden was totally eliminated following successful treatment with flecainide.

Mammalian target of rapamycin inhibitors was found recently to be an effective treatment for manifestations of Tuberous sclerosis complex, including cardiac rhabdomyomas. Most cases with Cardiac rhabdomyoma treated with mammalian target of rapamycin inhibitors to date were diagnosed with Tuberous sclerosis. We report a case of cardiac rhabdomyoma and severe right ventricular outflow obstruction in a baby with negative genetics for Tuberous sclerosis that responded rapidly to Sirolimus.

Background Behcet's disease (BD) is a multisystem autoinflammatory disease of unknown etiology. Cardiopulmonary involvement is rare, especially in young patients, and carries high morbidity and mortality rates. Aim Of 26 patients with pediatric BD enlisted in our center, we encountered three patients with severe atypical cardiorespiratory presentations. Our aim was to describe the manifestations and the course that led to the diagnosis of BD. Results Three adolescents presented with intracardiac thrombi and left anterior descending obstruction causing myocardial infarction, pulmonary artery aneurysm with pulmonary embolism in situ, and suspected epiglottitis. Two patients had a delayed diagnosis of BD, and all had a good response to anti-inflammatory agents. Conclusions This study demonstrated that pediatric BD is associated with atypical cardiopulmonary manifestations which maybe life threatening. Since diagnosis maybe challenging, a high index of suspicion is needed especially in young patients, to promptly diagnose and treat these complications. Cardiopulmonary signs and symptoms, though uncommon, maybe the first manifestation and a clue to the diagnosis of this rare disease.

Background A giant congenital cervical teratoma is often highly vascularized; thus, in addition to a life-threatening airway occlusion at birth it comprises a high risk for significant and lethal blood loss during resection. In the case presented, an endovascular embolization of the carotid artery that supplied a giant congenital cervical teratoma was done as part of a three-stage treatment soon after birth and contributed to an overall good outcome. Embolization in cases of cervical teratomas was not described previously. Case presentation We present a case of a preterm newborn from a Sephardic jewish origin with a giant, highly vascularized, congenital cervical teratoma that was managed successfully in three stages: (1) delivery by an ex utero intrapartum treatment procedure after extensive preoperative planning and followed by tracheostomy, (2) endovascular embolization of the carotid artery that supplied the tumor in order to decrease blood loss during resection, and (3) complete surgical resection. The parents were involved in all the ethical and medical decisions, starting just after the cervical mass was diagnosed prenatally. Conclusion The management of giant congenital cervical teratoma is often challenging from both a medical and ethical prospective. Meticulous perinatal planning and parents’ involvement is crucial. Endovascular embolization of the tumor feeding vessels can significantly improve the resection outcome and overall prognosis.

Objective The objective of this study was to compare the closure rate of hemodynamically significant patent ductus arteriosus (hsPDA) of intravenous ibuprofen + paracetamol (acetaminophen) versus ibuprofen + placebo, in preterm infants of 24 to 316/7 weeks postmenstrual age. Study Design This is a single-center, double-blind, randomized controlled pilot study. Infants were assigned for treatment with either intravenous ibuprofen + paracetamol (n = 12) or ibuprofen + placebo (n = 12). Results There was no statistical difference in baseline characteristics of the two groups. Echocardiography parameters were comparable before treatment in both groups. There was a trend toward higher hsPDA closure rate in the paracetamol group in comparison to the placebo group (83 vs. 42%, p = 0.08). No adverse effects, clinical or laboratory, were associated with adding paracetamol. Conclusion Our pilot study was unable to detect a beneficial effect by adding intravenous paracetamol to ibuprofen for the treatment of hsPDA. Larger prospective studies are needed to explore the positive tendency suggested by our results and to assure safety.

Haematogenous non-contiguous metastatic spread of remote solid tumours to the heart is rare. We describe a previously healthy 5-year-old girl who presented with extensive intracardiac involvement by metastatic pelvic sarcoma.

Background— Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder causing life-threatening arrhythmias whenever sympathetic activity increases. β-Βlockers are the mainstay of therapy; when they fail, implantable cardioverter-defibrillators (ICDs) are used but often cause multiple shocks. Preliminary results with flecainide appear encouraging. We proposed left cardiac sympathetic denervation (LCSD) as useful additional therapy, but evidence remains anecdotal. Methods and Results— We report 63 patients with CPVT who underwent LCSD as secondary (n=54) or primary (n=9) prevention. The median post-LCSD follow-up was 37 months. The 9 asymptomatic patients remained free of major cardiac events. Of the 54 patients with prior major cardiac events either on (n=38) or off (n=16) optimal medical therapy, 13 (24%) had at least 1 recurrence: 0 patients had an aborted cardiac arrest, 2 patients had syncope only, 10 patients had ≥1 appropriate ICD discharges, and 1 patient died suddenly. The 1- and 2-year cumulative event-free survival rates were 87% and 81%. The percentage of patients with major cardiac events despite optimal medical therapy (n=38) was reduced from 100% to 32% ( P P P Conclusions— LCSD is an effective antifibrillatory intervention for patients with CPVT. Whenever syncope occurs despite optimal medical therapy, LCSD could be considered the next step rather than an ICD and could complement ICDs in patients with recurrent shocks.

Background Calsequestrin-associated catecholaminergic polymorphic ventricular tachycardia (CPVT2) can cause sudden death in young individuals in response to stress. Beta-blockers are the mainstay medical treatment for patients with CPVT2. However, they do not prevent syncope and sudden death in all patients. Flecainide was reported to reduce exercise-induced ventricular arrhythmias (EIVA) in patients with ryanodine receptor-associated CPVT. The role of flecainide in CPVT2 is not known. Objective To summarize our experience in combining flecainide and beta-blockers in high-risk patients with CPVT2. Methods All patients with CPVT2 (10 patients) who have high-risk features (syncope, EIVA, or appropriate implantable cardioverter-defibrillator [ICD] shocks) despite beta-blockers with or without calcium channel blockers were treated with a combination of flecainide and beta-blockers. Exercise test was done before and after beginning treatment with flecainide. Results All patients had EIVA and 4 had appropriate ICD shocks before flecainide treatment. EIVA-included frequent ventricular premature beats and or ventricular tachycardia during the exercise test while on high dose of beta-blockers with or without calcium channel blockers before treatment with flecainide. After combination therapy with flecainide and beta-blockers, EIVA were suppressed completely in all patients. During follow-up of 15.5 ± 10.4 months (range 2–29 months), 8 patients were free of symptoms and free of arrhythmias. Two patients had 1 VT storm episode with recurrent ICD shocks despite repeated normal stress test. Conclusions Flecainide can completely prevent ventricular arrhythmia during exercise and partially prevent recurrent ICD shocks in high-risk patients with CPVT2.

Item does not contain fulltext BACKGROUND: Data on myocardial deformation during the internationally widely used second-trimester screening are scarce and confusing. Reference values of time to peak strain are missing. The aims of this study were to assess reference values derived from two-dimensional speckle-tracking echocardiography for global and regional longitudinal right ventricular (RV) and left ventricular (LV) strain, strain rate, and time to peak global strain and to determine the influence of heart rate and gender on these strain parameters. METHODS: Seventy-five healthy fetuses were enrolled during second-trimester ultrasound (20-24 weeks). Clips with high frame rates (mean, 132 frames/sec) and two-dimensional (B-mode) grayscale images of apical or basal four-chamber views of both ventricles were used for offline analyses. RESULTS: There were no statistically significant differences in global strain and strain rate between both ventricles (P = .679 and P = .734, respectively) or among the RV, septal, and LV free walls. Regional measurements, modeled also as an interaction of wall and segment (basal mid and apical), showed only a small, statistically significant difference between the basal RV and LV free walls. Strain and strain rate values were independent of heart rate. The mean time to peak LV global strain adjusted for heart rate was statistically significantly shorter than the RV value (P < .0001]). Strain, strain rate, and time to peak global strain were not found to be associated with gender. CONCLUSIONS: The establishment of second-trimester two-dimensional speckle-tracking echocardiographic reference values for global and regional strain, strain rate, and time to peak global strain in a healthy fetal cohort is a mandatory prerequisite for its use in evaluating (pathologic) changes in both ventricular functions during pregnancy.

Background— Catecholaminergic polymorphic ventricular tachycardia type 2 (CPVT2) results from autosomal recessive CASQ2 mutations, causing abnormal Ca 2+ -handling and malignant ventricular arrhythmias. We aimed to establish a patient-specific human induced pluripotent stem cell (hiPSC) model of CPVT2 and to use the generated hiPSC-derived cardiomyocytes to gain insights into patient-specific disease mechanism and pharmacotherapy. Methods and Results— hiPSC cardiomyocytes were derived from a CPVT2 patient (D307H- CASQ2 mutation) and from healthy controls. Laser-confocal Ca 2+ and voltage imaging showed significant Ca 2+ -transient irregularities, marked arrhythmogenicity manifested by early afterdepolarizations and triggered arrhythmias, and reduced threshold for store overload–induced Ca 2+ -release events in the CPVT2-hiPSC cardiomyocytes when compared with healthy control cells. Pharmacological studies revealed the prevention of adrenergic-induced arrhythmias by β-blockers (propranolol and carvedilol), flecainide, and the neuronal sodium-channel blocker riluzole; a direct antiarrhythmic action of carvedilol (independent of its α/β-adrenergic blocking activity), flecainide, and riluzole; and suppression of abnormal Ca 2+ cycling by the ryanodine stabilizer JTV-519 and carvedilol. Mechanistic insights were gained on the different antiarrhythmic actions of the aforementioned drugs, with carvedilol and JTV-519 (but not flecainide or riluzole) acting primarily through sarcoplasmic reticulum stabilization. Finally, comparable outcomes were found between flecainide and labetalol antiarrhythmic effects in vitro and the clinical results in the same patient. Conclusions— These results demonstrate the ability of hiPSCs cardiomyocytes to recapitulate CPVT2 disease phenotype and drug response in the culture dish, to provide novel insights into disease and drug therapy mechanisms, and potentially to tailor patient-specific drug therapy.

We are glad to have the opportunity to respond to the points kindly raised by Drs Patane and Gow in reference to our recent article on catecholaminergic polymorphic ventricular tachycardia (CPVT).1 We are obviously aware of the article by Faggioni et al,2 which includes 1 of the coauthors of our article, Dr Wilde. We also have direct experience with a few CPVT patients who had a reduction or disappearance of the ventricular arrhythmias induced by exercise when heart rate increased further (usually to >140 bpm). We have not discussed atrial overdrive pacing simply because we do not believe that these data and observations have direct relevance to the ongoing clinical management of CPVT patients in everyday life. The concept of atrial high-rate pacing (>120 bpm) may be of potential value in the in-hospital management of emergencies, but we find it difficult to recommend that heart rate should be increased permanently, or during exercise, to >140 bpm. In addition, how would it be possible to exclude that such an intervention, activated in the out-of-hospital setting, would not precipitate ventricular tachycardia or ventricular fibrillation? Our article was focused on how to reduce the incidence of life-threatening arrhythmias in the safest way. Rate support of CPVT patients who have symptomatic bradycardia in response to therapeutic β-blockade is always a consideration in CPVT. We acknowledge the comments concerning the possibility of anatomic variations in the cervicothoracic ganglion. Dr Gow …

Left cardiac sympathetic denervation (LCSD) was reported to be effective in patients with intractable ryanodine receptor mutation-associated catecholaminergic polymorphic ventricular tachycardia (CPVT).To report our experience with LCSD in calsequestrin (CASQ2) mutation-associated CPVT.LCSD was performed in three patients with CASQ2 mutation-associated CPVT with symptoms and exercise-induced ventricular arrhythmia despite high dose beta-blockerNone of them experienced symptoms or exercise-induced ventricular arrhythmia after LCSD. However, all had recurrence of symptoms and/or exercise-induced ventricular arrhythmia after 6 months (6-18 months).LCSD conferred short-term suppression but less than optimal long-term suppression of exercise-induced ventricular arrhythmia among CASQ2-associated CPVT patients.

Background. Right-to-left interatrial shunts through an atrial septal defect or patent foramen ovale may result from congenital and acquired conditions. Right-to-left shunts may occur with normal pulmonary artery pressure and resistance as in right ventricular outflow tract obstruction leading to hypertrophy and reduced diastolic function, in right ventricle ischemia, myocarditis or cardiomyopathy and in orthodeoxia–platypnea syndrome. Methods. We have tested the tolerance of trans-catheter closure of right-to-left interatrial shunts in 5 selected patients in whom the morphology and hemodynamics implied that it would be well-tolerated and improve functional capacity. Right-to-left shunt was demonstrated in 5 profoundly cyanotic patients by trans-thoracic and trans-esophageal echocardiography with intravenous injection of agitated saline. The patients were catheterized for hemo-dynamic study and tested for tolerance of transient balloon occlusion of the defects. Results. Diastolic right ventricular dysfunction with elevated end-diastolic pressure was the primary cause of right-to-left shunt. Most shunts occur via atrial septal defects. Patients' ability to tolerate temporary balloon occlusion of the defects predicted a favorable outcome following permanent device occlusion. Cyanosis resolved in all patients following closure of the defects without congestive right heart failure. A marked improvement in functional capacity was observed in 4 patients. One died of preinterventional hypoxic brain damage. Conclusion. Transcatheter closure of right-to-left shunts is well-tolerated and a rewarding approach. It should be applied in selected patients following careful morphologic and hemodynamic evaluation. Tolerance of temporary occlusion of the defect is predictive of a favorable procedural outcome.

Occlusion using coils is now the treatment of choice for closure of the patent arterial duct. The DuctOcclud (pfm AG, Cologne, Germany) device is a relatively new retrievable coil for such trans-catheter closure. This study expands on previously reported experience with this device, summarizes the advantages of the device, and compares trans-pulmonary and trans-aortic delivery in 47 patients. There were 27 females. The mean, and median, ages were 4.6, and 2.85 years, respectively. The youngest patient was aged 9 months, weighing 7 kg. A trans-aortic delivery was used in 41 cases, and a trans-pulmonary approach in 6 cases. Of the 47 procedures, 45 (96%) were successful at the first attempt. The other two patients were treated successfully at the second attempt, giving a 100% rate of success. The technical characteristics of the coil allowed for its repeated maneuvering until an optimal position was obtained prior to release. Closure was confirmed by lack of ductal flow by echo-doppler on follow- up echocardiography. No short- or long-term complications of the procedure were noted in any of the patients. We conclude that the DuctOcclud device is an effective and safe method for closure of the small-tomoderately patent arterial duct. In a large proportion of patients, trans-aortic delivery is the preferred approach.

International audience; Respiratory chain deficiencies exhibit a wide variety of clinical phenotypes resulting from defective mitochondrial energy production through oxidative phosphorylation. These defects can be caused by either mutations in the mtDNA or mutations in nuclear genes coding for mitochondrial proteins. The underlying pathomechanisms can affect numerous pathways involved in mitochondrial physiology. By whole-exome and candidate gene sequencing, we identified 11 individuals from 9 families carrying compound heterozygous or homozygous mutations in GTPBP3, encoding the mitochondrial GTP-binding protein 3. Affected individuals from eight out of nine families presented with combined respiratory chain complex deficiencies in skeletal muscle. Mutations in GTPBP3 are associated with a severe mitochondrial translation defect, consistent with the predicted function of the protein in catalyzing the formation of 5-taurinomethyluridine (τm(5)U) in the anticodon wobble position of five mitochondrial tRNAs. All case subjects presented with lactic acidosis and nine developed hypertrophic cardiomyopathy. In contrast to individuals with mutations in MTO1, the protein product of which is predicted to participate in the generation of the same modification, most individuals with GTPBP3 mutations developed neurological symptoms and MRI involvement of thalamus, putamen, and brainstem resembling Leigh syndrome. Our study of a mitochondrial translation disorder points toward the importance of posttranscriptional modification of mitochondrial tRNAs for proper mitochondrial function.

A 22-year-old man was referred for evaluation of exertional fatigue. On examination, there were no overt signs of congestive heart failure. Transthoracic and transesophageal echocardiography revealed rupture of the right coronary aortic sinus of Valsalva into the right ventricle. It was successfully closed with a 12 X 10 Amplatzer duct occluder.

Atrial fibrillation is rare in childhood that had not been reported in neonates with normal cardiac morphology and function. The authors present a newborn who underwent surgical repair of a tracheoesophageal fistula with esophageal atresia at the age of 2 days and experienced atrial fibrillation 16 days after the procedure. A report of 35 pediatric patients in a single center over a period of 22 years identified atrial fibrillation in children with a variety of ailments including congenital cardiac anomalies before and after corrective surgery, rheumatic valve disease, Marfan's syndrome with mitral regurgitation, infective endocarditis, cardiomyopathy, endocardial fibroelastosis, paroxysmal atrial tachycardia of infants, and cardiac tumors [2]. All these patients had underlying cardiac disease.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare but highly malignant inherited arrhythmic disorder. Although a standardized exercise stress test (ST) is the most reliable way to diagnose CPVT, in 30% only single ventricular premature beats (VPCs) were recorded.To evaluate whether electrocardiographic characteristics of VPCs during ST distinguish patients with CPVT from healthy subjects.Electrocardiographic characteristics of VPCs during ST in 16 calsequestrin-2 (CASQ2) mutation carriers CPVT patients were compared with that in 36 healthy subjects.CPVT patients had more VPCs (31 ± 14 vs 3 ± 4, P0.0001), longer QRS duration (139 ± 18 ms vs 121 ± 21, P = 0.004), and coupling interval (CI; 476 ± 58 ms vs 355 ± 61 ms, P0.0001). The most sensitive characteristics for CPVT were10 VPCs/test (100% sensitivity, 100% negative predictive value [NPV]), left bundle branch block (LBBB) pattern with inferior axis (88% sensitivity, 94% NPV), and CI longer than 400 ms (88% sensitivity, 94% NPV). Bigeminy or trigeminy or LBBB pattern with inferior axis was most specific for CPVT at 100% (100% positive predictive value PPV, 92% NPV). First VPC during the recovery period and VPC recording more than 1 minute during the recovery period were most specific for healthy subjects (100% specificity, 100% PPV). In multivariate analysis, QRS duration120 ms (odds ratio 4.2, 95% confidence interval 1-17.6, P = 0.04) and first VPC at ≥10 mets (odds ratio 9.1, 95% confidence interval 2.01-41.1, P = 0.004) each predicted the presence of CPVT.Several electrocardiographic criteria can help distinguish VPCs originating from CPVT compared with healthy subjects.

Item does not contain fulltext BACKGROUND: The aim of this study was to detect normal changes in fetal two-dimensional speckle-tracking echocardiography-derived values for global and regional longitudinal left and right ventricular strain, strain rate, and time to peak (T2P) global strain during pregnancy. METHODS: Forty-four healthy fetuses were examined prospectively during the second-trimester and third-trimester ultrasound examinations (20-24 and 30-34 weeks, respectively). Clips with high frame rates (mean, 120 frames/sec) of two-dimensional (B-mode) grayscale images of apical or basal four-chamber views of both ventricles were used for offline analyses of global and regional walls and segments (basal, mid, and apical) of myocardial strain and strain rate as well as T2P global strain in the longitudinal direction. RESULTS: There were statistically significant decreases in global and regional strain of the right ventricle between the second and third trimesters. No statistically significant changes were observed in global and regional strain of the left ventricle. Global and regional strain rates of both ventricles decreased in a similar way during pregnancy. The mean T2P longitudinal left ventricular global strain (adjusted for heart rate) increased mildly during fetal life. Whereas T2P longitudinal strain of the left ventricle at 20 to 24 weeks was statistically significantly shorter than that of the right ventricle, no difference in T2P longitudinal strain was found at 30 to 34 weeks of gestation between both ventricles. CONCLUSIONS: The establishment of these changes between the second-trimester and third-trimester two-dimensional speckle-tracking echocardiography-derived reference values is a mandatory prerequisite for its use in evaluating (pathologic) changes in both ventricular functions during pregnancy. 01 oktober 2013

In this study, the clinical and implantable cardioverter-defibrillator (ICD)–related follow-up of patients with catecholaminergic polymorphic ventricular tachycardia (CPVT) with homogenous missense mutations in CASQ2 was summarized. Patients were followed in a pediatric cardiology clinic and an ICD clinic. All patients were treated with high-dose β blockers. ICDs were recommended for patients who remained symptomatic despite medical treatment. Twenty-seven patients were followed for 1 to 15 years (median 9). Twenty patients (74%) were symptomatic at diagnosis; 13 (65%) remained symptomatic after treatment with high-dose β blockers and thus were advised to receive ICDs. Eight of these patients refused ICDs, and eventually 6 (75%) died suddenly. Four of the 5 patients who received ICDs had ventricular tachycardia storms treated but not terminated by recurrent ICD shocks. These ventricular tachycardia storms (2 episodes in 2 patients and 1 episode in 2 patient) terminated spontaneously after finishing the programmed ICD shocks, without degeneration to ventricular fibrillation. None of the patients who received ICDs died. In conclusion, patients with CASQ2-associated CPVT should be recommended to receive ICDs to prevent sudden death when medical therapy is not effective. These patients may have recurrent ventricular tachycardia storms treated but not terminated by recurrent ICD shocks, without degeneration to ventricular fibrillation.

We describe three adolescents who experienced sudden cardiac arrest due to ventricular fibrillation in an out-of-hospital setting and survived with good neurological outcome despite delayed time to defibrillation. All three were treated with prolonged cardiopulmonary resuscitation (CPR) by certified basic life support providers prior to first defibrillation. This report stresses the importance of early, minimally interrupted, chest compression CPR in children who suffer sudden cardiac arrest in the out-of-hospital setting where defibrillation could be delayed.

A heretofore undescribed surgical approach for correcting a rare congenital cardiac malformation consisting of an absent right superior vena cava with persistent left superior vena cava associated with situs solitus draining into the left atrium is presented. The intra-atrial septum was intact. Normal anatomy was achieved and recovery was uneventful.

Most perimembranous ventricular septal defects (pmVSD) that are still patent in adult life are small, hemodynamically and clinically unimportant, and do not require any intervention. However, surgery in adulthood for those that need to be closed carries significant morbidity. A trans-catheter technique for closing pmVSDs has been developed, and this paper describes our initial experience using the Amplatzer membranous septal occluder (AMSO).Twelve patients, 9 female and 3 male, median age 34.5 years (range: 21-67) underwent catheterization for attempted pmVSD closure. Ten of the defects were native and 2 were post-operative residual defects. Transcatheter VSD closure was performed as previously described, under general anesthesia and with trans-esophageal echocardiographic (TEE) monitoring. Patients had a moderate to large left to right shunt (mean Qp/Qs = 2.0+/-0.4) with mild left heart volume overload and near normal pulmonary pressure. All 10 native pmVSDs were closed successfully, 9 with AMSO and one with an Amplatzer muscular VSD occluder, after failure to implant the AMSO. There was one post procedural complication--self-limiting retroperitoneal bleeding. Three patients had a residual leak. Attempted VSD closure in the 2 patients with post surgery residual shunt was unsuccessful.We conclude that transcatheter mVSD closure with the AMSO is an efficient and safe alternative to surgery in carefully selected adult patients with native pmVSDs.

Contemporary catheterization techniques allow effective percutaneous transcatheter treatment of congenital heart defects as an attractive alternative to open heart surgery. This case report describes transcatheter treatment of congenital pulmonary valve stenosis and secundum atrial septal defect which were diagnosed in a 31 year old woman who presented with cyanosis. This illustrates difficulties in the diagnosis of congenital heart disease in adult patients and demonstrates that transcatheter techniques in the treatment of these congenital anomalies are effective.

Multidetector computed tomography (MDCT) cardiac findings in an unconscious teenager after blunt chest trauma are presented. Multidetector computed tomography enabled accurate comprehensive evaluation of the coronary arteries, myocardial perfusion, and left ventricular function. This case illustrates the full capabilities of MDCT in the evaluation of cardiac contusion in a noncooperative pediatric patient.

A 3-week-old male infant was referred for evaluation of multiple congenital anomalies and failure to thrive. He is the fourth offspring of first degree cousins of Arab–Muslim origin. Family history was notable for obesity, learning difficulties, reduced kidney function and visual impairment in a 10-year-old brother. The infant, weighing 3.3 kg, was born after an uneventful pregnancy at full term by spontaneous delivery. On admission he appeared malnourished and weighed 3.1 kg. No facial dysmorphism was present (Figure 1). There was postaxial polydactyly of all four limbs (Figures 2 and 3). Tachypnea and dyspnea were noted, and a grade 3u6 systolic heart murmur was heard over the entire precordium. Blood pressure was normal in all four extremities. Examination of the external genitalia revealed micropenis (Figure 4) and palpable testicles of normal size. Ophthalmologic evaluation including fundoscopy was unremarkable. Serum blood urea nitrogen and creatinine levels were elevated (40 and 0.9 mgudl, respectively). Other blood chemistries were unremarkable. Chest X-ray showed cardiomegaly. Echocardiography revealed both atrial and ventricular septal defects, a hypoplastic aortic arch and a tubular aortic coarctation. Abdominal sonogram revealed left renal crossed ectopy (Figure 5). Both kidneys were small for age, hyperechogenic, and showed no corticomedullary differentiation. Brain ultrasonography was unremarkable. The combination of postaxial polydactyly and renal, cardiac and genital malformations in an offspring of consanguineous parents, in conjunction with a sibling suffering from obesity, renal failure, mental retardation and visual impairment, have led us to diagnose Bardet–Biedl syndrome (BBS) in this young infant.