Presumed prenatal closure of foramen ovale and persistent pulmonary hypertension of the newborn.

Prenatal closure of foramen ovale without CHD is a rarely reported entity. Therefore, clinical and echocardiographic findings are poorly defined in these patients. We report a patient with prenatal closure of foramen ovale that presented with severe pulmonary hypertension of the newborn and left ventricular failure. Judicious management strategies were utilised to successfully treat both life-threatening conditions.

Stent graft implantation in an aortic pseudoaneurysm associated with a fractured Cheatham-Platinum stent in aortic coarctation.

We report a case of aortic pseudoaneurysm associated with a fractured bare Cheatham-Platinum stent following stenting for aortic coarctation. These complications were recognised 6 years after the implantation procedure and were successfully managed by percutaneous stent graft implantation. Staged approach for stent dilatation might prevent development of aortic pseudoaneurysms. In addition, careful follow-up is warranted after stenting for aortic coarctation, particularly in patients with recognised aortic wall injury.

A 6-year follow-up study of adult patients with congenitally corrected transposition.

The aims of this study were to assess the development of heart failure in patients with congenitally corrected transposition of the great arteries in a medium-term follow-up, to identify the impact of tricuspid regurgitation on the development of heart failure, and to determine the most reliable marker for its identification. The prospective 6-year follow-up study included 19 adult patients. All patients were evaluated clinically by the determination of N-terminal pro-hormone brain natriuretic peptide levels, exercise stress testing, echocardiography magnetic resonance, or CT. Among them, two patients died of heart failure. There was a decline in exercise capacity and systolic systemic ventricular function (p=0.011). Systemic ventricular ejection fraction decreased (48.3±13.7 versus 42.7±12.7%, p=0.001). Tissue Doppler imaging showed a decline in peak tricuspid systolic annular velocity (10.3±2.0 versus 8.3±2.5 cm/second, p=0.032) and peak tricuspid early diastolic annular velocity (14.6±4.3 versus 12.0±4.5 cm/second, p=0.048). The tricuspid regurgitation did not increase significantly. N-terminal pro-hormone brain natriuretic peptide levels increased (127.0 ng/L(82.3-305.8) versus 226.0 ng/L(112.5-753.0), p=0.022). Progressive exercise intolerance in congenitally corrected transposition of the great arteries appears to be driven mainly by a progression in systemic right ventricular dysfunction. Tricuspid regurgitation is likely to play a role, especially in patients with structural abnormalities of the tricuspid valve - Ebstein anomaly. The N-terminal pro-hormone brain natriuretic peptide levels and tissue Doppler parameters appear sensitive in detecting changes over time and may guide management.

Collapse of the Advanta V12 Large Diameter covered stent following implantation for aortic coarctation.

We report a case of collapse of the Advanta V12 Large Diameter (LD) covered stent following previous successful implantation for native aortic coarctation. This unreported complication was successfully managed with subsequent stent redilation and implantation of two covered Cheatham-Platinum stents within the collapsed Advanta V12 stent. This case highlights the importance of correct stent apposition to the aortic wall and also raises some concerns regarding the radial strength of the Advanta V12 stent.

A right-to-left shunt and prothrombotic disorders in pediatric patients presenting with transient ischemic attack.

Arterial ischemic stroke is an important cause of morbidity and mortality in pediatric population. A right-to-left shunt (RLS) across the patent foramen ovale was recently demonstrated as a possible risk factor for pediatric stroke. Prothrombotic disorders are frequently identified in pediatric patients with stroke. Data regarding RLS and prothrombotic disorders in pediatric patients presenting with transient ischemic attack (TIA) are lacking. The aims of the present study were (1) to compare the prevalence and grade of RLS in pediatric patients presenting with TIA vs. controls using contrast transcranial Doppler with Valsalva maneuver and (2) to identify prothrombotic disorders in pediatric patients presenting with TIA. Twenty-three consecutive pediatric patients presenting with TIA were included in the study. Logistic regression analysis showed that RLS was significantly associated with TIA (OR 4.75, 95 % CI 1.39-16.2, p = 0.013). The prevalence of RLS was significantly higher in patients in comparison to controls (p = 0.019). Significantly more microembolic signals (MES) were detected in patients than in controls (p = 0.003). Prothrombotic disorders were identified in 14 of the 23 patients. Both the prevalence of RLS and number of detected MES were significantly higher in pediatric patients presenting with TIA in comparison to controls. Prothrombotic disorders were identified in a high proportion of patients. These findings suggest that paradoxical embolism may be important in pediatric patients presenting with TIA.

Severe progressive obstructive cardiomyopathy and renal tubular dysfunction in Donohue syndrome with decreased insulin receptor autophosphorylation due to a novel INSR mutation.

UNLABELLED: Donohue syndrome (leprechaunism; OMIM *246200) is a rare, recessively inherited disorder of extreme insulin resistance due to mutations in the insulin receptor gene (INSR) causing either defects in insulin binding or receptor autophosphorylation and tyrosine kinase activity. We report a patient with pronounced clinical picture of leprechaunism who developed severe progressive hypertrophic obstructive cardiomyopathy (HOCM) and renal tubular dysfunction which improved on continuous subcutaneous infusion of recombinant human insulin-like growth factor-1 (rhIGF-I). INSR gene molecular analysis and insulin receptor (IR) autophosphorylation on cultured fibroblasts were performed. A novel homozygous missense mutation p.Leu795Pro was found, located in the extracellular portion of the ß subunit of the insulin receptor. The post-binding defect of the insulin receptor signaling in cultured fibroblasts demonstrated decreased insulin receptor autophosphorylation. CONCLUSION: Treatment with rhIGF-I partially reversed severe progressive HOCM and renal tubular dysfunction in a patient with Donohue syndrome associated with a novel p.Leu795Pro INSR gene mutation causing a severe decrease in IR autophosphorylation.

Aortic valve regurgitation following percutaneous closure of patent ductus arteriosus.

OBJECTIVES: To determine the incidence and outcome of aortic valve regurgitation (AR) following the percutaneous closure of patent ductus arteriosus (PDA). BACKGROUND: Aortic valve regurgitation is an overlooked consequence of percutaneous PDA closure. METHODS: Between December 2000 and May 2009, 51 children underwent percutaneous closure of PDA using Amplatzer Duct Occluders. Their median age at the time of the procedure was 2.6 years (range: 0.6-18.0 years), and median weight was 14.0 kg (range: 7.6-75.0 kg). Follow-up echocardiograms were performed a day after the procedure and at 1, 3, 12 months, and yearly thereafter. RESULTS: A day after the procedure, AR was detected for the first time in 13 of 48 patients (27.0%). A group of patients with newly developed AR was significantly different from a group of patients with competent aortic valves with respect to their age, weight, and minimal PDA diameter indexed to the body weight. The follow-up period ranged from 0.2 to 8.5 years (median 3.3 years) and at the latest follow-up evaluation, AR persisted in a single patient (2.0%) 6 years after the procedure. CONCLUSIONS: The aortic valve regurgitation following percutaneous PDA closure is trivial to mild and transient. It develops in approximately a quarter of children after percutaneous closure of PDA with a minimal diameter≥1.5 mm and is more likely to develop in infants and small children having significant left-to-right shunts.

A case report on the successful interventional treatment of a rare cause of left heart failure in a 69-year-old woman.

BACKGROUND: Dyspnoea is very common in elderly patients and can be caused by a variety of different diseases. However, the initial diagnosis of patent ductus arteriosus (PDA) as a cause of left heart failure is very rare in this patient population. CASE SUMMARY: A 69-year-old physically active woman with known hypertension presented with worsening exertional dyspnoea. Echocardiography showed a dilated left ventricle with moderately reduced left ventricular ejection fraction, and evidence for PDA. The PDA was confirmed by computed tomography angiography and successfully closed by implantation of an Amplatzer PDA occluder II 06-06 mm. As a result, the heart failure symptoms receded completely. DISCUSSION: Congenital heart diseases should be considered as heart failure causes even in older adults. In addition to the standard medical therapy, there may be effective interventional treatment options to reverse the symptoms of heart failure in such patients.

Balloon dilation of neonatal critical aortic valvar stenosis via the umbilical artery.

OBJECTIVES: To report our experience with balloon dilation of critical aortic valvar stenosis in neonates via the umbilical artery using currently available catheters. BACKGROUND: There is no agreement regarding the optimal vascular approach for balloon dilation of critical aortic valvar stenosis in neonates. METHODS: Since June of 2005, we have attempted to obtain umbilical arterial access within the first week after birth in all neonates with critical aortic valvar stenosis. In patients in whom umbilical artery access was obtained, we proceeded with an attempt at balloon dilation. RESULTS: We were presented with 5 patients with critical aortic valvar stenosis within the first week after birth, and the umbilical arterial approach was obtained in all, with effective relief of the stenosis achieved in 4. CONCLUSIONS: The umbilical arterial approach should always be considered for balloon dilation of neonatal critical aortic valvar stenosis. Using currently available catheters, the procedure is safe, simple, and effective even in patients weighing less than 2.5 kilograms. Further experience using this approach is warranted.

Diagnosis, clinical features, management, and post-natal follow-up of fetal tachycardias.

OBJECTIVE: To evaluate the diagnosis, clinical features, management and post-natal follow-up in consecutive fetuses identified with tachycardia. METHODS: We reviewed consecutive fetuses with tachycardia identified in a single tertiary institution between January, 2001, and December, 2008. We considered several options for management, including no treatment but close surveillance, trans-placental antiarrhythmic therapy in fetuses presenting prior to 36 weeks of gestation, and delivery and treatment as a neonate for fetuses presenting after 36 weeks of gestation. Data was gathered by a review of prenatal and postnatal documentation. RESULTS: Among 29 fetuses with tachycardia, 21 had supraventricular tachycardia with 1 to 1 conduction, 4 had atrial flutter, 3 had atrial tachycardia, while the remaining fetus had ventricular tachycardia. Of the group, 8 fetuses (27.6%) were hydropic. Transplacental administration of antiarrhythmic drugs was used in just over half the fetuses, delivery and treatment as a neonate in one-quarter, and no intervention but close surveillance in one-sixth of the case. Twenty-six of 29 fetuses (89.7%) were born alive. Only patients with fetal hydrops suffered mortality, with 37.5% of this group dying, this being statistically significant, with the value of p equal to 0.03, when compared to non-hydropic fetuses. Only 3 patients (11.5%) were receiving antiarrhythmic prophylaxis beyond the first year of life. CONCLUSION: A significant proportion of fetal tachycardias recognized before 36 weeks of gestation can be treated successfully by transplacental administration of antiarrhythmic drugs. Fetuses presenting after 36 weeks of gestation can be effectively managed postnatally. The long-term prognosis for fetuses diagnosed with tachycardia is excellent, with the abnormal rhythm resolving spontaneously during the first year of life in most of them.

Percutaneous management of cyanosis in Fontan patients using Amplatzer occluders.

OBJECTIVES: To determine causes of cyanosis and to evaluate percutaneous management of cyanosis in a group of consecutive Fontan patients. BACKGROUND: A variety of communications allow a right-to-left shunt in Fontan circulation causing cyanosis and these communications are amenable to percutaneous closure. METHODS: Between November 1997 and November 2007, 45 consecutive patients ranging in age from 2.5 to 26 years (median 8 years) with Fontan circulation and cyanosis underwent cardiac catheterization and percutaneous closure of superfluous communications using different types of Amplatzer occluders. RESULTS: Altogether, 51 communications were detected and 50 of them were closed. In 5 patients (11.1%), multiple communications were present and were closed. Fenestration was detected in 37 of 41 patients (90.2%) after total cavopulmonary connection and all were closed by Amplatzer septal occluders. Five venous collaterals were revealed in 3 of 41 patients (7.3%) with total cavopulmonary anastomosis and were closed by Amplatzer vascular plugs. In 3 patients, lateral tunnel leaks were detected and were closed by Amplatzer PFO occluders. In 4 patients after Kawashima operation, 3 major pulmonary arterio-venous malformations and single venous collateral contributed to the cyanosis and all were closed using Amplatzer vascular plugs. CONCLUSIONS: Different communications cause cyanosis in Fontan patients. Progressive decline of percutaneous oxygen saturation is suggestive of development of venous collaterals or pulmonary arteriovenous malformations. Superfluous communications are amenable to percutaneous closure using various types of Amplatzer occluders. A novel use of an Amplatzer PFO occluder for the percutaneous closure of a lateral tunnel leak is described.

The syndrome of cardiac failure in adults with congenitally corrected transposition.

OBJECTIVES: To assess neurohormonal activation of cardiac failure in adults with congenitally corrected transposition, and to determine the most sensitive marker for recognition of the cardiac failure. BACKGROUND: The onset of morphologically right ventricular dysfunction is unpredictable in patients with congenitally corrected transposition, the combination of discordant atrioventricular and ventriculo-arterial connections, and its markers are unknown. METHODS: We measured amino terminal pro brain natriuretic peptide in 19 patients, aged 35 plus or minus 13.1 years, and in 19 control subjects. Morhologically right ventricular function was assessed by echocardiography, including tissue Doppler echocardiography and magnetic resonance imaging or multislice computed tomography. RESULTS: The patients showed a highly significant increase in the levels of amino terminal pro brain natriuretic peptide, the levels being significantly elevated even in asymptomatic patients. Left atrial dimensions were larger in patients, and significantly lower tissue Doppler echocardiographic velocities were measured at the lateral site of the tricuspid annulus and at the basal segment of the interventricular septum. The ejection fraction of the morphologically right ventricle correlated significantly with the levels of brain natriuretic peptide, and with left atrial dimensions. CONCLUSIONS: Neurohormonal activation is present in patients with congenitally corrected transposition even when they are asymptomatic. It is correlated with left atrial dimensions and tissue Doppler echocardiographic parameters. Levels of brain natriuretic peptide, and peak tricuspid early diastolic annular velocity, are the earliest and most sensitive markers of morphologically right ventricular dysfunction.

Long-term outcome of transcatheter secundum-type atrial septal defect closure using Amplatzer septal occluders.

OBJECTIVES: The aim of this study was to assess long-term results of percutaneous closure of secundum-type atrial septal defect (ASD II) using Amplatzer septal occluders (ASO). BACKGROUND: Only immediate-, short-, and intermediate-term results of ASO implantation are known so far. METHODS: Between September 1995 and January 2000, 151 patients underwent a successful percutaneous closure of ASD II in our institution. All were included in the present study and were followed up until September 2004. RESULTS: This group of patients was followed up from 56 to 108 months (median 78 months). The mean stretched defect diameter was 15.9 +/- 4.8 mm. There were no deaths or significant complications during the study. At three years of follow-up, all defects were completely closed and remained closed thereafter. CONCLUSIONS: Since the first human implantations in September 1995, the Amplatzer septal occluder proved as a safe and effective device for percutaneous closure of ASD II.

Long-term outcome of transcatheter patent ductus arteriosus closure using Amplatzer duct occluders.

BACKGROUND: Immediate-, short-, and intermediate-term results of percutaneous patent ductus arteriosus (PDA) closure using Amplatzer duct occluders are excellent. However, long-term results have not yet been reported to date. METHODS: Between September 1996 and April 2002, 64 consecutive patients having isolated PDA with minimal diameter of > or =2 mm underwent percutaneous closure using Amplatzer duct occluders. All patients were included in this study and have been followed up until September 2005. RESULTS: Patients have been followed up from 40 to 108 months (median 58 months). The mean PDA diameter was 3.5 +/- 1.6 mm. There were no deaths or significant complications during the study period. At a 1-month follow-up, all PDA were completely closed and remained closed thereafter. CONCLUSIONS: Since the initial clinical experience in September 1996, the Amplatzer duct occluder has been proven as a safe and effective device for transcatheter PDA closure. Based on our experience, we believe that in patients having completely closed PDA with laminar blood flow pattern in the descending thoracic aorta and left pulmonary artery at a 1-year follow-up, there is no need for further evaluations. In contrast, few remaining patients need a careful follow-up until a complete normalization of all findings.

Familial biventricular myocardial noncompaction associated with Ebstein's malformation.

BACKGROUND: Noncompaction of the ventricular myocardium is a rare congenital cardiomyopathy characterized by numerous excessively prominent trabeculations and deep intertrabecular recesses. Noncompaction of the ventricular myocardium is most often an isolated cardiac malformation presenting as a sporadic disease. Associated cardiac anomalies are present in some patients. We report a family with three adult males from consecutive generations having a biventricular form of noncompaction of the myocardium. Two of the patients have an associated Ebstein's malformation of the tricuspid valve. METHODS: Clinical evaluation and follow-up, electrocardiography, echocardiography, heart catheterization, coronary angiography, contrast cineventriculography, and magnetic resonance imaging. RESULTS AND CONCLUSIONS: The association of noncompaction of the ventricular myocardium and Ebstein's malformation has not been reported so far. We believe that both defects were caused by a developmental arrest of the right ventricular myocardium. Echocardiography is the diagnostic modality of choice in patients and in the male relatives, irrespective of their clinical status. Thromboembolic events, cardiac rhythm disorders and heart failure mandate treatment. Anticoagulation treatment and implantation of cardioverter-defibrillator pacemaker have to be strongly considered in these patients.

A novel mutation in the G4.5 (TAZ) gene in a kindred with Barth syndrome.

Barth syndrome is an X-linked recessive disorder characterised by dilated cardiomyopathy and a variable expression of skeletal myopathy, short statue and neutropenia. Molecular genetic analysis is currently the most reliable diagnostic method. A kindred with a novel 535delC mutation in the G4.5 (TAZ) gene responsible for Barth syndrome is presented. Beside the patient, the same mutation was detected in patient's mother and grandmother. In contrast to the so far reported patients with mutations in the same region of G4.5 (TAZ) gene, the patient described here has only a mild and transitory clinical presentation. This could be attributed to alternative splicing of G4.5 (TAZ) gene, since mRNA lacking exon 6 (with 535delC mutation) was detected. Genetic analysis of the G4.5 (TAZ) gene was helpful for establishing the precise diagnosis of Barth syndrome and for adequate genetic counselling. Predicting the phenotype on the basis of mutations is unreliable especially if mutations are localised in alternatively spliced exons of the G4.5 (TAZ) gene which may result in a milder clinical presentation than expected.

Echocardiographic characteristics of secundum-type atrial septal defects in adult patients: implications for percutaneous closure using Amplatzer septal occluders.

The aim of the study was to analyze echocardiographic characteristics of isolated secundum-type atrial septal defects (ASD II) in adult patients and their implications for percutanous closure using Amplatzer septal occluders. The study population consisted of 64 consecutive adult patients with isolated ASD II (mean age 43.6 +/- 15.9 years). Patients were evaluated using both transthoracic and transesophageal echocardiography. Defects in 29 of 64 patients (45.3%) fulfilled the echocardiographic criteria for percutaneous closure. The mean defect diameter in the study was 22.2 +/- 9.5 mm. In all, 13 morphologic variations of ASD II were detected. A statistically significant correlation between defect size and the number of deficient defect rims was found. Less than 50% of ASD II in adult patients fulfilled the echocardiographic criteria for percutaneous closure using Amplatzer septal occluders. Because others have demonstrated growth of ASD II over time, we presume that in some patients, defect growth is associated with attenuation or even disappearance of defect rims causing changing defect morphology with increasing defect size.

Fistulous communication between the right coronary artery and left atrium.

This report describes congenital coronary artery fistula of the right coronary artery draining into the left atrium in a young woman. The initial diagnosis of this rare anomaly was made noninvasively by echocardiography. Transesophageal echocardiography was vastly superior to transthoracic echocardiography in presenting the entire course of the fistula. The diagnosis was confirmed by coronary angiography. The fistula was successfully closed surgically.

A right-to-left shunt in children with arterial ischaemic stroke.

OBJECTIVE: To compare the prevalence and grade of right-to-left shunt (RLS) in children with arterial ischaemic stroke (AIS) and in controls. DESIGN: Prospective study. SETTING: Tertiary paediatric referral centre. Patients 30 consecutive children with AIS. INTERVENTION: Contrast transcranial Doppler (cTCD) with Valsalva manoeuvre was performed in children with AIS and in controls. MAIN OUTCOME MEASURES: Detection and quantification of RLS. RESULTS: Logistic regression analysis showed that RLS was significantly associated with AIS and prothrombotic disorders or with AIS of undetermined aetiology (OR 6.10; 95% CI 1.41 to 26.3; p=0.015). The prevalence of RLS was significantly higher in a group of children with AIS and prothrombotic disorders or with AIS of undetermined aetiology compared to controls (p<0.05). Significantly more microembolic signals (MES) were detected in a group of children with AIS and prothrombotic disorders or with AIS of undetermined aetiology than in controls (p<0.005). CONCLUSIONS: Both the prevalence of RLS and number of detected MES were significantly higher in a group of children with AIS and prothrombotic disorders or with AIS of undetermined aetiology compared to controls. These findings suggest that paradoxical embolism may be an underestimated cause of AIS in children, particularly those with AIS and prothrombotic disorders or with AIS of undetermined aetiology.

Patent foramen ovale and unexplained ischemic cerebrovascular events in children.

OBJECTIVES: To consider the role of patent foramen ovale (PFO) in ischemic cerebrovascular event of unknown cause in children. BACKGROUND: Data regarding the possibility of paradoxical embolism in unexplained ischemic cerebrovascular event in children are lacking. METHODS: Between January 2005 and March 2007, all consecutive children evaluated due to ischemic cerebrovascular event were included in the retrospective study. In addition to the standard diagnostic protocol, a contrast transcranial Doppler (TCD) with Valsalva maneuver (VM) was performed in patients with unexplained events. Percutaneous PFO closure was offered to all patients with ischemic cerebrovascular event of unknown cause and presumed paradoxical embolism. RESULTS: Eighteen patients aged between 2 and 17 years (median 11.5 years) were included in the study: 12 patients suffered ischemic stroke and six with transient ischemic attack (TIA). In six patients, ischemic stroke was of unknown cause and contrast TCD with VM was positive in four of them. In addition, TCD study was positive in five patients evaluated because of TIA. Nine patients with presumed paradoxical embolism underwent an attempt at the percutaneous PFO closure. CONCLUSIONS: It appears that the role of PFO in ischemic cerebrovascular event of unknown cause in children may be underestimated. Contrast TCD with VM is a sensitive, noninvasive method for PFO detection, proved in our experience particularly suitable for children. In children with unexplained ischemic cerebrovascular event and presumed paradoxical embolism, percutaneous PFO closure should be considered.