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Aim: To determine whether right atrial (RA) function has prognostic value in patients with idiopathic pulmonary arterial hypertension (PAH).Methods and results: Overall, 104 patients (70 female, mean age 58 +/- 13 years) with idiopathic PAH underwent standard Doppler echocardiography and strain and strain rate (SR) analysis before right heart catheterization. At a mean follow-up of 22 +/- 7 months, 30 patients (29%) had clinical worsening. On Cox multivariable proportional-hazards regression analysis, RA reservoir function measured as peak longitudinal SR (hazard ratio [HR] 0.5; P < 0.0001), RA area (HR 1.2; P < 0.01), right ventricular (RV) SR (HR 0.6; P < 0.0001), cardiac index (HR 0.79; P < 0.01), and mixed venous oxygen saturation (HR 0.82; P < 0.01) were found to be independent correlates of cardiac events. A RA SR reservoir cut-off value of

AIMS A simple echocardiographic score was designed for diagnosing precapillary vs postcapillary pulmonary hypertension and for discriminating between isolated postcapillary pulmonary hypertension (Ipc-PH) and combined precapillary and postcapillary pulmonary hypertension (Cpc-PH). METHODS The score comprised 7 points (2 for E/e' ratio ≤10, 2 for a dilated non-collapsible inferior vena cava, 1 for a left ventricular eccentricity index ≥1.2, 1 for a right-to-left heart chamber dimension ratio >1 and 1 for the right ventricle forming the heart apex) and was applied to 230 consecutive patients referred for evaluation of pulmonary hypertension. RESULTS Precapillary pulmonary hypertension and postcapillary pulmonary hypertension were diagnosed in 160 and 70 patients, respectively. In the latter, Ipc-PH was found in 51 and Cpc-PH in 19. The echo score was higher in precapillary vs postcapillary pulmonary hypertension patients (4.2 ± 1.7 vs 1.6 ± 1.7, P

Congenital long QT syndrome (LQTS) is associated with high genetic and allelic heterogeneity. In some cases, more than one genetic variant is identified in the same (compound heterozygosity) or different (digenic heterozygosity) genes, and subjects with multiple pathogenic mutations may have a more severe disease. Standard-of-care clinical genetic testing for this and other arrhythmia susceptibility syndromes improves the identification of complex genotypes. Therefore, it is important to distinguish between pathogenic mutations and benign rare variants. We identified four genetic variants (KCNQ1-p.R583H, KCNH2-p.C108Y, KCNH2-p.K897T, and KCNE1-p.G38S) in an LQTS family. On the basis of in silico analysis, clinical data from our family, and the evidence from previous studies, we analyzed two mutated channels, KCNQ1-p.R583H and KCNH2-p.C108Y, using the whole-cell patch clamp technique. We found that KCNQ1-p.R583H was not associated with a severe functional impairment, whereas KCNH2-p.C108Y, a novel variant, encoded a non-functional channel that exerts dominant-negative effects on the wild-type. Notably, the common variants KCNH2-p.K897T and KCNE1-p.G38S were previously reported to produce more severe phenotypes when combined with disease-causing alleles. Our results indicate that the novel KCNH2-C108Y variant can be a pathogenic LQTS mutation, whereas KCNQ1-p.R583H, KCNH2-p.K897T, and KCNE1-p.G38S could be LQTS modifiers.

Background Fluid challenge may help in the differential diagnosis between pre- and postcapillary pulmonary hypertension (PH). However, the test is still in need of standardization and better defined clinical relevance. Methods Two hundred twelve patients referred for PH underwent a right-sided heart catheterization with measurements before and after rapid infusion of 7mL/kg of saline. PH was defined as mean pulmonary artery pressure≥ 25mmHg, and postcapillary PH was defined as pulmonary artery wedge pressure (PAWP) > 15mmHg. An increase in PAWP≥ 18mmHg was considered diagnostic for postcapillary PH. At baseline, 66 patients received a diagnosis of no PH; 22, of postcapillary PH; and 124, of precapillary PH (mostly pulmonary arterial hypertension). Results After fluid challenge, five of 66 patients with no PH (8%) and eight of 124 with precapillary PH (6%) had the diagnosis reclassified as postcapillary PH. Fluid challenge was associated with an increase in PAWP by 7 ± 2mmHg in postcapillary PH and 3 ± 1mmHg in both precapillary PH and no-PH groups. Between-group differences were significant, but there was overlap. There were no adverse events related to fluid challenge. Prediction bands calculated from quadratic fits of the PAWP responses in pooled control subjects with no PH and patients with precapillary PH helped confirm 18mmHg as the cutoff for diagnosing postcapillary PH. Conclusions Fluid challenge with 7mL/kg saline increases PAWP, more in postcapillary than in precapillary PH or in control subjects with no PH. A cutoff value of 18mmHg allows reclassification of 6%to 8%of patients with precapillary PH or normal hemodynamic characteristics at baseline.

Background: Exercise-induced increase in pulmonary artery systolic pressure (PASP) as a possible measure of right ventricular (RV) contractile reserve has been shown to predict survival in severe pulmonary hypertension. However, RV contractile reserve can also be measured by changes in stroke volume (SV), tricuspid annular plane systolic excursion (TAPSE), or tricuspid annular systolic velocity (S'). The limits of normal values and the functional significance of these changes in healthy subjects are not well known. Methods: In this prospective study, 90 healthy subjects (45 male, mean age 39 ± 13years) underwent exercise stress echocardiography with measurement of TAPSE, S', TAPSE/PASP, SV, and PASP at rest and peak exercise. Maximum and minimum normal values were reported for all indices. Results: Normal values of exercise-induced changes (Δ) were 4 to 10mm for TAPSE, 6 to 14cm/s for S', 12 to 57mm Hg for PASP, 0 to 96mL for SV, and −1.2 to 0mm/mm Hg for TAPSE/PASP. At peak exercise, women showed lower ΔTAPSE/PASP, ΔPASP, ΔS', and ΔSV, but higher TAPSE/PASP than men. Aging was associated with decreased ΔTAPSE/PASP, ΔTAPSE, ΔS', ΔPASP, and ΔSV. In addition, ΔS', ΔTAPSE/PASP, ΔPASP, and ΔSV, but not ΔTAPSE, were directly correlated with maximum workload. Conclusions: Our results provide age- and sex-related limits of normal for RV contractile reserve as assessed by exercise stress echocardiography and demonstrate that RV systolic function indices (PASP, TAPSE, S', and TAPSE/PASP) correlate with maximum exercise capacity.

The success of cardiac surgery over the past 50 years has increased numbers and median age of survivors with congenital heart disease (CHD). Adults now represent two-thirds of patients with CHD; in the United States alone the number is estimated to exceed 1 million.In this population many affected women reach reproductive age and wish to have children. While in many CHD patients pregnancy can be accomplished successfully, some special situations with complex anatomy, iatrogenic or residual pathology are associated with an increased risk of severe maternal and fetal complications. Pre-conception counseling allows women to come to truly informed choices. Risk stratification tools can also help high-risk women to eventually renounce to pregnancy and to adopt safe contraception options. Once pregnant, women identified as intermediate or high-risk should receive multidisciplinary care involving a cardiologist, an obstetrician and an anesthesiologist with specific expertise in managing this peculiar medical challenge.This document is intended to provide cardiologists working in hospitals where an Obstetrics and Gynecology Department is available with a streamlined and practical tool, useful for them to select the best management strategies to deal with a woman affected by CHD who desires to plan pregnancy or is already pregnant.

Aims: To evaluate if obesity has an additional negative impact on left ventricular (LV) geometry and function in normotensive pediatric patients >12 months after successful treatment of aortic coarctation (CoA). Methods and Results: We studied 40 CoA patients (mean age 14 ± 3 years, and male sex 70%), of them 10 were obese and 30 lean. Both groups were age and sex comparable. The entire studied sample underwent 24-ambulatory blood pressure (BP) monitoring, standard echocardiographic evaluation, and speckle tracking study. Both office and 24-hour diastolic BP were significantly increased in obese patients. Obese CoA patients showed increased LV mass (52 ± 13 g/m2.7 vs. 43 ± 9 g/m2.7, P = 0.02), and significant reduction in E/A compared with lean CoA patients. Myocardial deformation properties were significantly reduced in obese CoA patients in all the three studied planes (longitudinal, radial, and circumferential) compared with CoA lean patients. LV twist values showed a significant reduction in the obese CoA group (9.9°± 2.2° vs. 14.5°± 2.3°, P < 0.0001). Conclusions: Our study shows that obesity in successfully treated CoA children, has an additional negative effect on BP, LV mass, and cardiac function. These findings are of particular concern, since life expectancy in CoA patients is limited mainly by atherosclerosis, and all the obesity-associated abnormalities found are harbingers of higher cardiovascular risk. (Echocardiography 2011;28:907-912)

We report the case of a 16-year-old boy with cardiomyopathy induced by inappropriate sinus tachycardia (IST). The patient was resistant to treatment with conventional rate-decreasing medications. Therapy with the selective sinus node I(f) current inhibitor ivabradine was started. After 3 months of ivabradine therapy, an improvement in ejection fraction and a successful decrease in heart rate were observed. No side effects occurred. We suggest that ivabradine, currently used to treat stable angina, could be considered as a second-line treatment in patients with symptomatic and refractory IST.

An unusual case of two different types of atrial arrhythmia after orthotopic heart transplantation is reported: a macro-reentrant atrial tachycardia in the recipient atrium, and a common-type, counterclockwise, isthmus-dependent atrial flutter in the donor atrium. The clinical symptoms were caused by atrial flutter arising from the donor atrium. Radiofrequency catheter ablation of the electrically active, donor-derived portion of the cavotricuspid isthmus was performed successfully.

Life expectancy is still reduced in aortic coarctation (AoC) patients despite a successful repair because of late arterial hypertension and atherosclerosis. Masked hypertension (MH) consists of an elevated daytime or awake ambulatory blood pressure (BP) in the presence of a normal BP on conventional measurement at the office. To assess the prevalence of MH among AoC normotensive young patients successfully treated and to evaluate the impact of MH on left ventricular (LV) geometry and function.We studied 76 AoC patients (mean age 14.5±5.7 years, male 64%). According to 24 h ambulatory BP monitoring (ABPM) our sample was divided in real normotensive patients (Group RN, n=40) and MH patients (Group MH, n=36). There was an increased pressure gradient in the aortic arch (15 mm Hg±4 vs 13 mm Hg±4.7, P

Congenital heart disease (CHD), the most common cardiac malformation in the fetal and neonatal period, represents a heterogeneous group of defects with little known cause. The aim of this study was to investigate the incidence rate (IR) of CHD without spontaneous resolution in the first year of life, the age at diagnosis, the most common type of CHD, and the IR changes in severe and nonsevere CHD during the study period.From January 1997 to December 2002, 4559 live births with CHD (diagnosed until December 2004) were enrolled in the Campania Region. Number of live-born children by month was derived from national registries.About 70% of CHD patients were diagnosed within the first year of life. The overall mean regional IR of CHD was 11.1 (confidence interval 10.8-11.4) patients per 1000 live-born children. The overall mean IR of CHD was significantly different in the five provinces of the Campania Region, but the annual IR remained stable in each of them throughout the study period. The relative risk in live-born children and residents in the areas with an elevated IR of CHD was higher for nonsevere CHD, but of low significance for severe CHD. At least one-third of CHD patients had atrial septal defects.We described the highest IR of CHD from one of the largest samples used up to now for this purpose (410 181 live-born children), but we think that this value could be higher (poor surveillance in some areas). Moreover, this study increases the awareness that CHD patients with a few symptoms are frequently underdiagnosed in areas with inadequate health services and that by an improved availability of pediatric echocardiographic assesments seem warranted. Eight years of surveillance and an increasing attention of both pediatricians and cardiologists to mild CHD in some provinces allowed us to demonstrate that, despite previous reports, the most common CHD in our region was atrial septal defect.

Oral bosentan is an established treatment for pulmonary arterial hypertension (PAH).To evaluate safety, tolerability, and clinical and haemodynamic effects of bosentan in patients with PAH related to congenital heart disease (CHD).22 patients with CHD related PAH (8 men, 14 women, mean (SD) age 38 (10) years) were treated with oral bosentan (62.5 mg x 2/day for the first 4 weeks and then 125 mg x 2/day).Clinical status, liver enzymes, World Health Organisation (WHO) functional class, resting oxygen saturations and 6-min walk test (6MWT) were assessed at baseline and at 1, 3, 6, and 12 months. Haemodynamic evaluation with cardiac catheterisation was performed at baseline and at 12 month follow-up.12 patients had ventricular septal defect, 5 atrioventricular canal, 4 single ventricle, and 1 atrial septal defect. All patients tolerated bosentan well. No major side effects were seen. After a year of treatment, an improvement was seen in WHO functional class (2.5 (0.7) v 3.1 (0.7); p0.05), oxygen saturation at rest (87 (6%) v 81 (9); p0.001), heart rate at rest (81 (10) v 87 (14) bpm; p0.05), distance travelled in the 6MWT (394 (73) v 320 (108) m; p0.001), oxygen saturation at the end of the 6MWT (71 (14) v 63 (17%); p0.05), Borg index (5.3 (1.8) v 6.5 (1.3); p0.001), pulmonary vascular resistances index (14 (9) v 22 (12) WU m(2); p0.001), systemic vascular resistances index (23 (11) v 27 (10) WU.m(2); p0.01), pulmonary vascular resistances index/systemic vascular resistances index (0.6 (0.5) v 0.9 (0.6); p0.05); pulmonary (4.0 (1.3) v 2.8 (0.9) l/min/m2; p0.001) and systemic cardiac output (4.2 (1.4) v 3.4 (1.1) l/min/m2; p0.05).Bosentan was safe and well tolerated in adults with CHD related PAH during 12 months of treatment. Clinical status, exercise tolerance, and pulmonary haemodynamics improved considerably.

OBJECTIVE At present, the level of care for adult congenital heart disease is not completely satisfactory in many European countries including Italy. The aim of this multicentre study was to evaluate the possibility of creating an active connection among different centres involved in the care of this patient population. METHODS This study lasted two years, from December 2002 to December 2004. It involved six clinical centres located in the north, centre and south of Italy; a research centre (ISBEM) affiliated to the National Research Centre was also involved. Each centre was supposed to contribute with written information (about their specific subject) on the web site; our target readers were physicians, nurses and patients. The intranet part of the web connection was used for a registry to be filled with very simple information (demographic data, main diagnosis, reason for hospitalisation, type of treatment) about patients hospitalised after January 2000. The aim of the registry was to get a snapshot of the composition of the treated population, and the spectrum of the lesions. RESULTS The main results are the following: (i) the creation of the web site www.guch-italia.it which can be accessed without a specific password; (ii) the creation of a registry in which we entered the clinical information of 1,231 patients; (iii) the presentation of guidelines on the web site, extrapolated from the recommendations for the management of adults with congenital heart disease from the Canadian Cardiovascular Society Consensus Conference. CONCLUSIONS With this study we tried to create a national network of centres that have as an objective to optimise the assistance to patients with adult congenital heart disease, trying to make the approach as much homogeneous as possible.

Background: Diagnostic assessment and treatment have been described in detail in symptomatic WPW syndrome, but little information exists about significance and prognosis of an incidentally found ventricular pre-excitation (VPE) in asymptomatic children. The aim of the study was to evaluate, retrospectively, the role of electrophysiological study (EPS) in the assessment of the arrhythmic risk in asymptomatic patients with VPE. Material and Methods: Sixty-two asymptomatic children and adolescents (38 M/24 F, aged 9.8±5.1 years) referred to our Division between 1996 and 2002 for an incidentally found VPE underwent an EPS for arrhythmic risk stratification. The following parameters were examined: anterograde effective refractory period of the accessory pathway (AP), the 1-to-1 conduction over the AP, the inducibility of atrio-ventricular re-entrant tachycardia (AVRT) and the inducibility of atrial fibrillation (AF) with measurement of minimal RR between two consecutive preexcitated QRS complexes, the average RR interval of all cycles, and the percentage of preexcitated QRS complexes. Result: During the EPS, 36 patients (58.1%) experienced sustained SVT. The tachycardia was initiated in the basal state in 22 patients and after isoproterenol in the other 14. Orthodromic AVRT (cycle length 305.9±48.5 ms) was recorded in 29 patients. In three patients, both orthodromic and antidromic AVRT were recorded, with different cycle length (CL). Antidromic AVRT alone (CL 239.5±13.7 ms) was recorded in four patients. AF was recorded in nine patients: in six patients, it was recorded after the induction of orthodromic or antidromic AVRT, in the other three cases AF was the first and only arrhythmic event. The minimal RR between two consecutive pre-excitated QRS ranged between 250–230 ms (mean 237.5±9.6 ms). In the 26 patients who presented no induced sustained tachycardia in the EPS, the 1:1 conduction over the AP ranged between 210 and 600 ms (mean 279.6±75.2 ms). Conclusions: Electrophysiological evaluation remains the gold standard for assessing risk of life-threatening arrhythmias in patients with VPE. However, a high proportion of healthy children and adolescents with VPE can experience sustained AVRT and/or AF during EPS. These results raise questions about the necessity of an aggressive treatment approach to prevent those "rare" cases of sudden death.

Cardiac arrhythmias and right chamber enlargement are well known long-term sequelae of atrial septal defect (ASD). Surgical ASD closure relieves patient symptoms but often fails to revert cardiac volume overload findings. Transcatheter ASD closure might be an attractive alternative to surgery, also because of the possibility to study the amount and time-course of the electro-geometric modifications following shunt disappearance. Between March 2000 and December 2002, 24 patients (age 22.7 +16.8 years) underwent percutaneous closure of large ASD (stretched diameter >20 mm and/or QP/QS ratio >1.5:1). ASD closure was performed with the Amplatzer Septal Occluder device (mean 25 +/- 7 mm), achieving a complete occlusion in all patients at 1 month. In 6 patients, right ventricular (RV) monophasic action potential was recorded during the procedure. All patients underwent standard 12-lead electrocardiography and transthoracic echocardiography before and at 24 hours and 1 month after ASD closure. After the procedure, monophasic action potential length increased from 359 +/- 27 to 372 +/- 27 ms (p

Electromechanical interaction, with prolonged QRS duration due to right ventricular (RV) overload, has been described as a predictor of unfavorable outcome in patients late after correction of Tetralogy of Fallot (TOF). Aim of our study was to evaluate myocardial function and activation delay of both left and right ventricles in TOF patients. Doppler echo, treadmill test and pulsed Tissue Doppler (TD) were performed in 25 healthy subjects and in 30 adult patients who had undergone surgery for TOF, all with right bundle branch block on ECG. Exclusion criteria were evidence of residual pulmonary either stenosis or regurgitation. By use of TD, the level of both LV mitral and RV tricuspid annulus were measured: systolic (Sm), early- and late-diastolic (Em and Am) regional peak velocities. The indexes of myocardial systolic activation were calculated: precontraction time (PCTm) and interventricular activation delay (InterV-del) (difference of PCTm between RV and LV segments). The two groups were comparable for LV diameters and for Doppler indexes, while QRS duration was prolonged and RV end-diastolic diameter was increased in TOF. By TD analysis, only at the level of tricuspid annulus TOF patients had lower Sm and Em, and increased RV PCTm ( p 55 ms showed 87% sensitivity and 88% specificity to detect increased risk of ventricular arrhythmias during effort. In TOF patients, TD analysis at rest may be taken into account as a non-invasive and easy-repeatable tool to predict cardiac performance during physical effort, and to select subgroups of patients at increased risk of ventricular arrhythmias.

Objective: The aim of this study was to analyze right ventricular (RV) myocardial function in competitive athletes with left ventricular (LV) hypertrophy induced by either endurance or strength training. Methods: Standard Doppler echo, maximal electrocardiogram (ECG) ergometric test, and pulsed tissue Doppler (TD) of LV mitral annulus and of RV tricuspid annulus were performed in 32 competitive endurance athletes (long-distance swimmers; ATE) and in 26 strength-trained athletes (short-distance swimmers; ATS), all males. By use of TD, the following parameters of myocardial function were assessed: systolic peak velocities (Sm), precontraction time, contraction time, early (Em) and late (Am) diastolic velocities, Em/Am ratio, and relaxation time. Results: The two groups were comparable for age, but ATS at rest exhibited higher heart rate, systolic blood pressure, and body surface area. LV mass index did not significantly differ between the two groups. However, ATS characterized increased wall thickness and relative wall thickness, whereas LV stroke volume and both LV and RV end-diastolic diameters were greater in ATE. All transmitral and transtricuspid Doppler indexes were higher in ATE, with increased E/A ratios. TD analysis demonstrated in ATE higher Em and Em/Am ratio as well as longer relaxation time both at mitral and at tricuspid annulus level. In the overall population, distinct multiple linear regression models evidenced independent positive association between RV peak Em velocity and LV end-diastolic diameter (P < 0.001) as well as independent direct correlation of the same RV peak Em velocity with both LV stroke volume and maximal workload achieved by bicycle ergometer (both P < 0.001). Conclusions: Right ventricular early diastolic myocardial function is positively influenced by preload increase in athletes, and represents an independent determinant of cardiac performance during physical effort. Therefore, pulsed TD may be taken into account to distinguish different cardiac adaptation to either endurance or strength sport activities, and eventually to quantify RV adaptation degree to long-term training. (ECHOCARDIOGRAPHY, Volume 20, May 2003)

The aim of the study was to analyze right ventricular (RV) myocardial function in patients with left ventricular (LV) hypertrophy secondary to either hypertrophic cardiomyopathy (HC) or athletic endurance training. Doppler echocardiography and pulsed Doppler tissue imaging of the posterior septal wall, and mitral and tricuspid annulus were performed in 32 top-level endurance athletes (AT) and in 27 patients with HC, all men. LV mass index was comparable between the 2 groups. All transmitral Doppler indexes were higher in AT, whereas only tricuspid inflow peak E and E/A ratio were slightly decreased in the HC group. In the HC group, Doppler tissue analysis showed lower myocardial systolic and early-diastolic (Em) peak velocities, and longer time intervals at the level of all the analyzed segments, even after correction for age, heart rate, and LV mass index. Distinct multiple linear regression models revealed an independent positive association between RV peak Em velocity and LV end-diastolic diameter (beta coefficient = 0.72, P.0001) in AT, and an independent inverse correlation of the same peak Em velocity of tricuspid annulus with septal thickness (beta = - 0.65, P.001) in the HC group. Of interest, a RV Em peak velocity0.16 m/s differentiated AT and HC groups better than tricuspid Doppler (89% sensitivity and 93% specificity). In conclusion, Em RV myocardial function is positively influenced by preload increase in AT and negatively associated to increased septal thickness in patients with HC. Therefore, Doppler tissue imaging may represent a useful tool in the differential diagnosis between athlete's heart and HC, underlining the different involvement of RV myocardial function in either physiologic or pathologic LV hypertrophy.

Background: Because transposition of great arteries (TGA) patients who underwent atrial switch repair (AS) remain asymptomatic for decades before development of symptomatic heart failure, there may be some clinical value to preclinical detection of ventricular dysfunction. Detection of systemic right ventricular (RV) dysfunction in patients who are asymptomatic may prompt early initiation of heart failure therapy and more frequent clinical follow-up. Aim: The objective of this study was to characterize longitudinal and transverse systolic function of the systemic RV using two-dimensional (2D) strain in patients with TGA after AS repair and to correlate these parameters with their exercise capacity. Methods: The study population consisted of 26 patients (20±6 years) with TGA after AS operation. Conventional echocardiography and bidimensional strain were performed on consecutive patients reporting to the out patient congenital heart disease clinic. Twenty-four healthy, age-matched individuals were used as control subjects. Analysis was performed on the non-systemic RVs of the control group. All the studied patients underwent treadmill exercise testing according to the Bruce II protocol. Results: RV longitudinal 2D-strain in controls showed a base to apex gradient, while in patients was homogeneously reduced. Also RV transverse strain (i.e the radial deformation assessed by the apical 4 chamber view) showed a base to apex gradient in controls, while in patients was significantly increased in the mid and apical segments. In the systemic RV free wall, transverse strain was greater than longitudinal strain (pb0.0001), opposite from findings in the normal RV free wall (p: NS). Of interest, in AS-TGA patients we found a strong correlation between RV transverse 2D strain and exercise capacity (pb0.0001; R: 0.80). At multivariate analysis (including age, degree of tricuspid regurgitation, TAPSE, RV area fractional change, RV visually estimated ejection fraction, RV global longitudinal strain and RV global transverse strain) the best predictor of exercise capacity in AS-TGA patients was transverse 2D strain (pb0.0001). Conclusions: In AS-TGA patients there is a shift from a predominant longitudinal shortening to a predominant transverse thickening. The transverse thickening assessed by 2D transverse strain is correlated to exercise capacity of these patients. In the follow up of AS-TGA patients the monitoring of RV transverse myocardial deformation properties should be considered more than the simple evaluation of RV longitudinal function.

Percutaneous closure is widely recognized as the first therapeutic option in the majority of cases of secundum atrial septal defect (ASD) because of its high effectiveness and safety. Nonetheless, with the progressive increase of implanted devices and follow-up duration, several adverse events, some of them potentially life-threatening, have been reported. We report the case of an asymptomatic aortic erosion that occurred 13 years after the procedure. The main feature of our case is the very late occurrence of a life-threatening asymptomatic complication of ASD percutaneous closure, which should prompt lifelong surveillance in this population.

The electrocardiographic manifestations of hyperkalemia have been well described. We report the case of a patient with permanent atrial fibrillation for 13 months, who converted to normal sinus rhythm after treatment for hyperkalemia. This is the first case of hyperkalemia-induced conversion of permanent atrial fibrillation to sinus rhythm with a well-documented transitional tracing of atrial arrest. J Cardiovasc Med 11:000–000 Q 2010 Italian Federation of Cardiology.

BACKGROUND Atrial arrhythmias are well known long-term complications of atrial septal defect (ASD), presumably due to chronic atrial enlargement and stretch. Surgical repair often fails to revert the arrhythmic risk despite atrial volumetric unloading, maybe as a consequence of atriotomic scar. Avoiding atrial incision, percutaneous ASD closure should result in atrial unloading and arrhythmic risk decrease. This study evaluated the atrial short-term electrogeometric effects of percutaneous ASD closure. METHODS Fifteen asymptomatic patients (age 23 +/- 5 years) submitted to percutaneous closure of large ASD (QP/QS 2.4 +/- 0.3) using the Amplatzer Septal Occluder device (24 +/- 2 mm) underwent atrial echocardiographic (indexed right atrial size and left atrial size as well as right atrial/left atrial volume ratio) and electrocardiographic (P-wave duration and dispersion, PR conduction time and dispersion) evaluation at 1 and 6 months after ASD closure. RESULTS After 6 months, the indexed right atrial volume and the right atrial/left atrial volume ratio had significantly decreased (from 39 +/- 5 to 20 +/- 2 ml/m2, P < 0.001 and from 2.0 +/- 0.2 to 1.0 +/- 0.1, P < 0.0001, respectively) as did the P-wave dispersion (from 32 +/- 2 to 28 +/- 1 ms, P = 0.03) despite a significant increase of both P-wave maximal (from 75 +/- 3 to 81 +/- 3 ms, P < 0.01) and minimal (from 42 +/- 3 to 53 +/- 3 ms, P < 0.005) duration. CONCLUSION Percutaneous ASD closure causes a short-term positive atrial electrogeometric remodelling. The electrocardiographic predictors of atrial arrhythmias, however, tend to worsen early after device implantation despite a marked volumetric unloading, possibly due to a 'foreign body' effect of the occluding device. This might warrant a closer follow-up during the first few weeks after device implantation.

Background: The QRS prolongation and its relation to malignant ventricular arrhythmias are topics of interest. Controversies exist about the methodology of measuring the QRS. The aim of this study was to assess the accuracy and reproducibility of manual measurement of the QRS in standard electrocardiograms in patients with right bundle branch block and compare results with computer reading. Methods and results: Five experienced cardiologists at different levels of training were required to measure QRS duration in 30 electrocardiograms with different degrees of right bundle branch block collected from 24 randomly selected patients who had had radical repairs of tetralogy of Fallot. In each set of electrocardiograms there were six records which had been duplicated. The observers were neither told the purpose of the study nor how the electrocardiograms had been obtained, nor informed that some of the electrocardiograms were duplicates. Photocopies were identified by number, covering the patient's name and computerised measurement. Significant differences were found in the measurement of QRS in the same ECG calculated twice by the same observer (with an absolute variation up to 50 ms), within different observers ( P =0.037) and measured manually or by computer ( P =0.019). The width of the QRS did not influence the measurements as the biggest intra-observer variation (50 ms) was observed for relatively wide complex (median value between the two measurements 155 ms) and the biggest inter-observer (60 ms) for narrow complex (median value between the five measurements 110 ms). The QRS morphology appeared to influence the measurements, as the intra- and inter-observer variations were more consistent in the presence of obvious notching, slurrings and terminal slow vectors. Conclusions: Measurement of QRS is difficult, can be operator dependent and influenced by the presence of conduction abnormalities which reduce its accuracy and reproducibility.

Objective: Atrial fibrillation (AF) is the most frequently encountered arrhythmic complication associated with coronary surgery. The aim of this paper was then to identify the clinical predictors of post-CABG AF occurrence. Methods: 150 consecutive patients were included in this study and divided into two groups according to the absence (SR group, 104 male and 22 female, age 58.4 ^ 8.8 years) or presence (AF group, 23 male and 1 female, age 65.4 ^ 6.3 years) of post-CABG AF. Forty-seven perioperative variables were considered. Results: After univariate analysis, advanced age (SR vs. AF: 58.4 ^ 8.8 vs. 65.4 ^ 6.3, P , 0:001), an increased BMI (SR vs. AF: 26.1 ^ 2.7 vs. 27.4 ^ 2.5, Pa 0:026), a prior history of paroxysmal AF (SR vs. AF: 3.2% vs. 16.7%, Pa 0:028), left atrial enlargement (SR vs. AF: 21.1% vs. 70.8%, P , 0:001) and a more severe coronary artery disease (CAD) (SR vs. AF: no. of diseased vessels: 2.42 ^ 0.7 vs. 2.91 ^ 0.3, Pa 0:001; three-vessel CAD (54.1% vs. 91.3%, Pa 0:002) were the only factors that statistically differed between the groups. Multivariate logistic regression analysis identified left atrial enlargement (P , 0:0001), a prior history of paroxysmal AF (Pa 0:007) and a more severe CAD (Pa 0:0047) to be independent correlates for AF. Conclusions: Post-CABG AF seems to require a well definite anatomical and electrical substrate that is generated by increased left atrial dimensions, a greater extension of coronary lesions and a possible electrical remodeling consequent to prior repetitive episodes of paroxysmal AF. q 1999 Published by Elsevier Science B.V. All rights reserved.

The anthracyclines, doxorubicin and daunorubicin, are antibiotics effective in the treatment of many malignancies. However, their usefulness is limited by the development of potentially fatal cardiotoxicity. Cardiac monitoring by a noninvasive test capable of identifying patients at high risk of cardiac damage, before the ejection fraction deteriorates would have clinical utility. Electrocardiograms and echocardiograms are routinely utilized for noninvasive assessment of myocardial function. However, of the ECG abnormalities described, none has been noted to be of consistent predictive value for cardiotoxicity. The aim of this study was to assess the effects of doxorubicin on ventricular repolarization time indexes, as they have been shown to be effective in the identification of electrical myocardial instability and, hence, in the identification of risk for either arrhythmia or heart failure. For this reason, electrocardiograms were compared in 35 cancer patients at the first presentation (drug-free state) and after 29.4 +/- 37.65 weeks of treatment with doxorubicin. The results of the present study showed that after only a short period of treatment with doxorubicin there was a significant increase in ventricular recovery time dispersion indexes (QTc, JT, and JTc dispersion, and their "adjusted" values). Thus, increased regional variation in ventricular repolarization could be, in the absence of a significant modification of the echocardiographic parameters, an early marker of an electropathy, due to the early cardiotoxic action of doxorubicin on myocardial cells, eventually leading to heart failure.

We evaluated the arrhythmic profile in a population of 20 Becker muscular dystrophy (BMD) patients searching for possible correlations between the severity of the arrhythmic events, the cardiac autonomic balance (assessed by heart rate variability analysis in the time domain) and the degree of left ventricular systolic impairment. A population of 14 male healthy individuals served as the control group. BMD subjects exhibited lower values of SDNN (P=0.013), SDANN index (P=0.008) and 24-h mean heart rate (P=0.002). The total number of premature ventricular beats (totPVB) and the number of PVB out of 1000 heartbeats (PVB/1000) appeared also higher in BMD subjects (P=0.05 and P=0.046, respectively). No difference was found in terms of 24-h mean QTc and 24-h longest QT among the two groups. TotPVB and PVB/1000 were inversely related to both the ejection fraction (r= -0.620, P=0.004 and r= -0.517, P=0.019) and to the shortening fraction (r= -0.568, P=0.009 and r= -0.469, P=0.037). Twenty-four-h mean QTc was also inversely related to both the ejection fraction (r= -0.520, P=0.019) and the fractional shortening (r= -0.491, P=0.028). These data suggest that in BMD there is cardiac autonomic imbalance characterized by sympathetic predominance and an increased susceptibility to ventricular arrhythmias, even in the absence of overt cardiomyopathy. Furthermore, the severity of the arrhythmic profile in BMD appears closely related to the degree of left ventricular systolic dysfunction.

Background Pulmonary arterial hypertension (PAH) after shunt closure is associated with a poor prognosis. The aim of this study was to assess retrospectively the hemodynamics of patients developing PAH after shunt closure. Methods Hemodynamic data obtained by right heart catheterization (RHC) performed at baseline and after shunt closure were analyzed. Results Twenty-two patients, 13 with atrial septal defect (ASD), 6 with ventricular septal defect (VSD), 1 with patent ductus arteriosus, 1 with both ASD and VSD, and 1 with complete atrio-ventricular canal have been considered. The mean age at closure was 25.3±20.1years (range of 3months to 56.7years), and the mean age at PAH diagnosis was 37.0±20.8years (range of 5 to 61.2years). The time delay between shunt closure and PAH diagnosis was 140.2±100.2months. At baseline RHC, hemodynamic data were as follows: pulmonary vascular resistance (PVR) of 8.6±2.6Woodunits, PVR index (PVRi) of 10.1±2.7Woodunits∗m 2 , mean pulmonary arterial pressure of 43.7±9.7mmHg, PVR to systemic vascular resistance ratio (PVR/SVR) of 0.70±0.23, and Qp/Qs of 1.6±0.4. In particular, 18/22 (81%) had PVR≥5Woodunits, 21/22 (95%) PVRi≥6Woodunits∗m 2 , 21/22 (95%) PVR/SVR≥0.33, and 11/22 (50%) Qp/Qs≤1.5. During the follow-up, 5/22 (22%) patients died and one patient underwent successful double lung transplantation. Conclusions High baseline values of PVR (≥5Woodunits), PVRi (≥6Woodunits∗m 2 ) and PVR/SVR (≥0.33) are common findings in patients who develop PAH late after shunt closure. Large prospective clinical trials are needed to establish the safe limits for shunt closure.

Background Echocardiographic studies have contributed to progress in the understanding of the pathophysiology of the pulmonary circulation and have been shown to be useful for screening for and prognostication of pulmonary hypertension, but are considered unreliable for the diagnosis of pulmonary hypertension. We explored this apparent paradox with rigorous Bland and Altman analysis of the accuracy and the precision of measurements collected in a large patient population. Methods A total of 161 patients referred for a suspicion of pulmonary hypertension were prospectively evaluated by a Doppler echocardiography performed by dedicated cardiologists within 1h of an indicated right heart catheterization. Results Nine of the patients (6%) were excluded due to an insufficient signal quality. Of the remaining 152 patients, 10 (7%) had no pulmonary hypertension and most others had either pulmonary arterial hypertension (36%) or pulmonary venous hypertension (40%) of variable severities. Mean pulmonary artery pressure, left atrial pressure and cardiac output were nearly identical at echocardiography and catheterization, with no bias and tight confidence intervals, respectively ±3mm Hg, ±5mm Hg and ±0.3L/min. However, the ±2SD limits of agreement were respectively of +19 and −18mm Hg for mean pulmonary artery pressure, +8 and −12mm Hg for left atrial pressure and +1.8 and −1.7L/min for cardiac output. Conclusions Doppler echocardiography allows for accurate measurements of the pulmonary circulation, but with moderate precision, which explains why the procedure is valid for population studies but cannot be used for the individual diagnosis of pulmonary hypertension.

article i nfo Article history: Background: Oral bosentan is effective in pulmonary arterial hypertension (PAH) related to congenital heart disease (CHD). In patients with Down's syndrome, the effect of bosentan is largely unknown. Aim of the study was to evaluate the long-term effects of bosentan in adult patients with CHD-related PAH with and without Down's syndrome. Methods: WHO functional class, resting oxygen saturation, 6-minute walk test (6MWT) and hemodynamics were assessed at baseline and after 12 months of bosentan therapy in patients with CHD-related PAH with and without Down's syndrome. Results: Seventy-four consecutive patients were enrolled: 18 with and 56 without Down's syndrome. After 12 months of bosentan therapy, both with and without Down's syndrome patients showed an improvement in WHO functional class (Down: 2.5±0.5 vs 2.9±0.6, p=0.005; controls: 2.5±0.5 vs 2.9±0.5, p=0.000002), 6-minute walk distance (Down: 288±71 vs 239±74 m, p=0.0007; controls: 389±80 vs 343±86 m, p=0.00003), and hemodynamics (pulmonary flow, Down: 4.0±1.6 vs 3.5±1.4 l/m/m 2 ,p =0.006; controls: 3.5±1.4 vs 2.8±1.0 l/m/m 2 , p=0.0005; pulmonary to systemic flow ratio, Down: 1.4±0.7 vs 1.0±0.4, p=0.003; controls: 1.1±0.7 vs 0.9±0.3,p=0.012; pulmonary vascular resistanceindex, Down: 15±9 vs 20± 13 WU m 2 , p=0.007; controls: 20±10 vs 26±15 WU m 2 , p=0.002). No differences in the efficacy of therapy were observed between the two groups. Conclusions: Bosentan was safe and well tolerated in adult patients with CHD-related PAH with and without Down's syndrome during 12 months of treatment. Clinical status, exercise tolerance, and pulmonary hemodynamics improved, regardless of the presence of Down's syndrome.

Disturbances in cardiac sodium channel function are associated with inherited arrhythmia susceptibility. Mutations in SCN5A, which encodes the cardiac sodium channel (NaV1.5), cause congenital long QT syndrome type 3 (LQT3), Brugada syndrome (BrS) and a variety of cardiac conduction disorders (CCD) [1,2]. These disorders have can have complex genotype-phenotype relationships [3,4]. Here we report the clinical features of an LQTS family segregating a novel amino acid deletion mutation (N1472del) in SCN5A that produces a unique pattern of biophysical disturbances consistent with the clinical phenotype.

QTc interval dispersion (QTcd) analysis (difference between maximum and minimum QTc calculated from at least five of the standard 12 ECG leads) and signal-averaged electrocardiograms were performed on 23 patients referred to our coronary care unit because of acute myocardial infarction. Late potentials were considered positive if all three of the following criteria were satisfied: (1) total QRS duration (QRSd) > 114 ms; (2) duration of QRS under 40 muV (LAS 40) > 38 ms; (3) root mean square voltage of the last 40 ms of QRS (RMS 40) < 25 muV. Patients were divided into two groups according to the presence (group A, 9 patients) or absence of late potentials (group B, 14 patients). Group A patients showed a significantly higher QTcd (0.0652 +/- 0.0177 s vs. 0.0448 +/- 0.0201 s; P = 0.021) and a significantly longer mean QTcm (0.43117 +/- 0.01817 s vs. 0.40472 +/- 0.03013 s; P = 0.028) than group B patients. Among the three different parameters used to define the presence of late potentials, QTcd was significantly related to LAS 40 (r = 0.418, P = 0.047) and mean QT cm to QRSd (r = 0.497; P = 0.016). We also found a significant correlation between QTcd and mean QTcm (r = 0.426; P = 0.043). In conclusion, our data suggest that (1) the presence of late potentials is associated with a greater dishomogeneity of ventricular recovery time; (2) the longer the duration of late potentials, expressed by LAS 40, the greater the QTcd, suggesting that the dispersion of repolarization could be attributed to slowly conducting areas from which late potentials arise; (3) mean QTcm is not useful to identify these areas because it is more affected by total rather than by terminal QRS duration; (4) regional discrepancies of ventricular recovery time are connected with general repolarization duration.

Aim of the study was to explore the response to a fluid challenge test (FCT) in normal subjects and in patients with pulmonary hypertension (PH). 168 subjects underwent right heart catheterization in basal conditions and after FCT. At baseline, 50 subjects showed normal pressures (healthy controls

Bicuspid aortic valve (BAV) represents the most common cardiac congenital malformation in the adult age. It is frequently associated with dilatation, aneurysm and dissection of the ascending aorta. The purpose of the following study was to evaluate in patients with BAV: 1) the elastic properties of the ascending aorta, 2) the mechanical function of the left ventricle and 3) stiffness, elasticity and strain of the epi-aortic vessels wall.Forty BAV patients (28M/12F; age 20.9 ± 4.7 years; range 17-26) with no or mild valvular impairment were recruited with 40 control subjects (25M/15F; age 23.4 ± 3.4 years; range 15-31) matched for age, gender and body surface area (BSA). Aortic strain, aortic distensibility (AoDIS) and aortic stiffness index (AoSI) were derived. Left ventricular strain was acquired. Elastic properties of epi-aortic vessels were evaluated.BAVs vs. controls had increased systolic and diastolic aortic diameters (p0.001). Aortic strain (%) was lower in BAVs than in controls (8.3 ± 3.6 vs. 11.2 ± 2.6; p0.001) as well as AoDIS (10(-6)cm(2)dyn(-1)) (6.5 ± 2.8 vs. 8.8 ± 2.9; p=0.002), while AoSI was greater in BAVs (6.4 ± 3.5 vs. 3.9 ± 1.2; p0.001). Both AoDIS and aortic strain were related to aortic size in BAVs and controls. Left ventricular longitudinal (p=0.01), circumferential (p=0.01) and radial (p0.001) strain (%) were lower in BAVs. No significant differences were found in elastic properties of epi-aortic vessels.Bicuspid aortic valve is associated with an increased aortic stiffness and with a reduction of the aortic and left ventricular deformation properties. Epi-aortic vessels do not seem to be interested by the disease. The use of an echocardiographic method that can estimate the degree of aortic and left ventricular remodeling can provide great benefits in the selection of patients with BAV to be treated and in determining the time for beginning drug therapy.

cardiac autonomic control in patients with subclinical and overt hyperthyroidism. Eur J Endocrinol 2001;145:691–6. [15] Biondi B. Should we treat all subjects with subclinical thyroid disease the same way? Eur J Endocrinol Sep 2008;159(3):343–5 Electronic publication 2008 Jul 22. [16] Haentjens P, Van Meerhaeghe A, Poppe K, Velkeniers B. Subclinical thyroid dysfunction and mortality: an estimate of relative and absolute excess all-cause mortality based on time-to-event data from cohort studies. Eur J Endocrinol Sep 2008;159(3):329–41 Electronic publication 2008 May 29. [17] Patane S, Marte F, Di Bella G, Turiano G. Acute myocardial infarction and subclinical hyperthyroidism without significant coronary stenoses. Int J Cardiol 2009 May 29;134(3):e135–7 [Electronic Publication ahead of print 2008 Jun 24]. [18] Patane S, Marte F. Paroxysmal atrial fibrillation during acute myocardial infarction associated with subclinical hyperthyroidism, severe three vessels coronary artery disease and elevation of prostate-specific antigen after Turp. Int J Cardiol 2010;138:e28–30. [19] Patane S, Marte F. Paroxysmal ventricular tachycardia and paroxysmal atrial fibrillation associated with subclinical hyperthyroidism, chronic renal failure and elevation of prostate-specific antigen during acute myocardial infarction. Int J Cardiol 2010 Feb 4;138(3):e44–6 [Electronic Publication ahead of print 2008 Aug 21]. [20] Patane S, Marte F. Atrial fibrillation associated with subclinical hyperthyroidism. Int J Cardiol 2009 May 29;134(3):e155–8 [Electronic Publication ahead of print 2009 Jan 29]. [21] Patane S, Marte F. Intermittent changing axis deviationwith intermittent left anterior hemiblock during atrial flutter with subclinical hyperthyroidism. Int J Cardiol 2009 Jun 26;135(2):e37–9 [Electronic Publication ahead of print 2008 Jan 24]. [22] Patane S, Marte F. Changing axis deviation and paroxysmal atrial flutter associated with subclinical hyperthyroidism. Int J Cardiol 2010 Oct 8;144(2):e31–3 [Electronic Publication ahead of print 2009 Jan 26]. [23] Erem C. Blood coagulation, fibrinolytic activity and lipid profile in subclinical thyroid disease: subclinical hyperthyroidism increases plasma factor X activity. Clin Endocrinol (Oxf) Mar 2006;64(3):323–9. [24] Coban E, Aydemir M, Yazicioglu G, Ozdogan M. Endothelial dysfunction in subjects with subclinical hyperthyroidism. J Endocrinol Invest Mar 2006;29(3):197–200. [25] Coban E, Aydemir M. Levels of plasma fibrinogen and D-dimer in subjects with subclinical hyperthyroidism. Med Sci Monit Jan 2008;14(1):CR42–46. [26] Patane S, Marte F. Atrial fibrillation and acute myocardial infarction without significant coronary stenoses associated with subclinical hyperthyroidism and erythrocytosis. Int J Cardiol 2010 Nov 5;145(1):e36–9 [Electronic Publication ahead of print 2009 Jan 30]. [27] Patane S, Marte F, Curro A, Cimino C. Recurrent acute pulmonary embolism and paroxysmal atrial fibrillation associated with subclinical hyperthyroidism. Int J Cardiol 2010 Jul 9;142(2):e25–6 [Electronic Publication ahead of print 2009 Jan 9]. [28] Coats AJ. Ethical authorship and publishing. Int J Cardiol 2009;131:149–50.

Background Vasoreactivity testing is recommended in the management of pulmonary arterial hypertension (PAH), but its clinical relevance in congenital heart disease (CHD)-associated PAH has not been established. Objective To determine whether residual pulmonary vascular responsiveness to intravenous. epoprostenol is predictive of clinical outcome in patients with CHD-PAH and Eisenmenger syndrome. Methods and results A diagnostic right heart catheterisation with reversibility testing using epoprostenol infusion was performed in 38 consecutive patients with CHD-PAH and Eisenmenger syndrome. Patients were treated with bosentan and were assessed every 3 months. Clinical worsening was defined as death from any cause, heart–lung or lung transplantation (or on the waiting list for this procedure), hospitalisation for PAH, or symptom exacerbation defined as a ≥20% decrease in the 6 min walking distance on two consecutive tests, an increase in WHO functional class, or worsening right heart failure. The mean follow-up was 33±17 months. Sixteen patients showed clinical worsening. Although they did not differ from the other patients in their baseline exercise capacity, haemodynamic characteristics and underlying CHD, pulmonary vascular resistance index (PVRi) was less reversible (ΔPVRi 29±21 vs 52±14%, p = 0.0003). At univariate analysis, systemic vascular resistance, PVRi and ΔPVRi were significant predictors of clinical worsening. At multivariate Cox proportional hazards regression model, ΔPVRi was found to be the only independent predictor of clinical worsening (HR=0.973, 95% CI 0.95 to 0.99; p = 0.01). ΔPVRi ≥25% had a positive and negative predictive value for clinical worsening of 100% and 75.9%, respectively. Conclusion Pulmonary vasoreactivity is a significant predictor of clinical worsening in patients with CHD-PAH.

Background Pathological angiogenesis represents a critical issue in the progression of many diseases. Down syndrome is postulated to be a systemic anti-angiogenesis disease model, possibly due to increased expression of anti-angiogenic regulators on chromosome 21. The aim of our study was to elucidate some features of circulating endothelial progenitor cells in the context of this syndrome. Methods Circulating endothelial progenitors of Down syndrome affected individuals were isolated, in vitro cultured and analyzed by confocal and transmission electron microscopy. ELISA was performed to measure SDF-1α plasma levels in Down syndrome and euploid individuals. Moreover, qRT-PCR was used to quantify expression levels of CXCL12 gene and of its receptor in progenitor cells. The functional impairment of Down progenitors was evaluated through their susceptibility to hydroperoxide-induced oxidative stress with BODIPY assay and the major vulnerability to the infection with human pathogens. The differential expression of crucial genes in Down progenitor cells was evaluated by microarray analysis. Results We detected a marked decrease of progenitors' number in young Down individuals compared to euploid, cell size increase and some major detrimental morphological changes. Moreover, Down syndrome patients also exhibited decreased SDF-1α plasma levels and their progenitors had a reduced expression of SDF-1α encoding gene and of its membrane receptor. We further demonstrated that their progenitor cells are more susceptible to hydroperoxide-induced oxidative stress and infection with Bartonella henselae. Further, we observed that most of the differentially expressed genes belong to angiogenesis, immune response and inflammation pathways, and that infected progenitors with trisomy 21 have a more pronounced perturbation of immune response genes than infected euploid cells. Conclusions Our data provide evidences for a reduced number and altered morphology of endothelial progenitor cells in Down syndrome, also showing the higher susceptibility to oxidative stress and to pathogen infection compared to euploid cells, thereby confirming the angiogenesis and immune response deficit observed in Down syndrome individuals.

Skin erosion caused by the pacemaker is widely documented, but the complete extrusion of the device is very rare. We describe the case of a 54-year-old woman who was admitted to hospital because of skin erosion, followed by the complete extrusion of the pacemaker pulse generator out of the subcutaneous pocket. The patient underwent a lead extraction procedure and a new pacemaker, in the contralateral side, was implanted. This case demonstrates that the early stages of skin erosion favoured by the device, if neglected, may cause more serious complications that may require the removal of the hardware.

Objective The present study aimed to evaluate the management of fetal cardiac dysrhythmias based on prior identification of the underlying electrophysiological mechanism. Methods We studied 36 consecutive fetuses with cardiac dysrhythmia. Rhythm diagnosis was based on M-mode, pulsed wave Doppler and tissue Doppler imaging (TDI). Only fetuses with: (i) incessant tachycardia (> 12 h) and mean ventricular rate > 200 beats/min, (ii) signs of left ventricular dysfunction, or (iii) hydrops, were treated using oral maternal drug therapy. Results The mean gestational age at diagnosis was 24.3 +/- 4.5 weeks. Twenty-one fetuses had tachycardia with a 1: 1 atrial-ventricular (AV) conduction. Based on ventricular-atrial interval, prenatal diagnosis was: permanent junctional reciprocating (n = 6), atrial ectopic (n = 6) or atrial-ventricular re-entry tachycardia (n = 9). One had atrial flutter, one ventricular tachycardia and four congenital AV block. Nine showed premature atrial or ventricular beats. Fifteen fetuses with incessant tachycardia, left ventricular dysfunction or hydrops were prenatally treated with maternal administration of digoxin, sotalol or flecainide. The total success rate (sinus rhythm or rate control) was 14/15 (93%). Seven fetuses were hydropics. Three of these died (one at 28 weeks of gestation, two in the first week of life). The prenatal diagnosis of dysrhythmia was confirmed at the birth in 31 of 35 live-born. No misdiagnosis was made using TDI. At 3 +/- 1.1-year follow-up, 33/35 children were alive and well. Conclusions Fetal echocardiography could clarify the electrophysiological mechanism of fetal cardiac dysrhythmias and guide the therapy.

Pulmonary arterial hypertension represents an absolute contraindication for heart transplantation. We report the case of a 30-year-old man with end-stage heart failure due to restrictive cardiomyopathy and pulmonary arterial hypertension. A complex multidrug therapy improved pulmonary haemodynamics to the point that orthotopic heart transplantation could be carried out. At 18-month follow-up after heart transplantation, the patient's cardiac function made a full recovery. Larger prospective studies are warranted to support these results.

The increasing number of adult patients with congenital heart disease and the better survival of patients with complex disease into adulthood, as a result of the success of pediatric cardiology and cardiac surgery over the last years, have increased the need for specific structures, the so-called grown-up congenital heart disease units, able to provide comprehensive care to these patients. Many of the adult patients with congenital heart disease will require, over time, further operations, urgent in-hospital admission for a wide range of complications such as arrhythmias, hemorrhage, heart failure and bacterial endocarditis. Furthermore, these patients may often experience despair due to their awareness of residual morbidities and the knowledge of possible early mortality, or limitations in their social lives and educational or occupational attainment. Provision of care for children with congenital heart disease is well established in most parts of the world. In contrast, clinical services for the adults with congenital heart disease are scarce. In this scenario, adult cardiologists are not always equipped to deal with the range ad complexity of grown-up patients with congenital heart disease, whereas pediatric cardiologists cannot be expected to manage the many acquired adult diseases in a pediatric medical environment.

A 12-year-old female with the Wolff-Parkinson-White syndrome underwent an electrophysiologic study followed by radiofrequency catheter ablation of the left-lateral accessory pathway. After several unsuccessful attempts, the procedure was stopped because of early recurrence of accessory pathway conduction. Twenty-four hours after the procedure, the patient was found without ventricular pre-excitation pattern on the electrocardiogram. During a 12-month follow-up, the Wolff-Parkinson-White pattern was no longer present. A transesophageal electrophysiologic study showed no further tachycardia induction and the patient is still asymptomatic. This report raises the issue that ablation-induced lesions may evolve considerably during the first few days after ablation, leading to either recurrent accessory pathway conduction or long-lasting complete cure.

Although diagnostic assessment and treatment have been described in detail in patients with symptomatic Wolff-Parkinson-White (WPW) syndrome, the management of asymptomatic subjects remains controversial. Usually they are assumed to have a benign prognosis, although they do very occasionally present with ventricular fibrillation (VF) as the first manifestation of the syndrome. Discovering a WPW pattern in a previously asymptomatic athlete on a routine electrocardiogram (ECG) identifies the necessity for more accurate screening tests. However, non-invasive methods (Holter monitoring, exercise treadmill testing) seem to be relatively incomplete for risk stratification, especially for athletes. Current guidelines do not always recommend a routine electrophysiological study (EPS) in patients with an asymptomatic WPW ECG pattern, especially in children younger than 12 years. Individuals who engage in high-risk occupations or those patients who have a pre-excitation pattern which precludes them from following their chosen career or activities may be exceptions. The presence of inducible reciprocating tachycardia during EPS, especially when it triggers atrial fibrillation with short RR interval, can represent a specific risk marker of dangerous arrhythmias.

Subtotal anomalous pulmonary venous connection (APVC) is a rare congenital heart disease (CHD) in which all pulmonary veins but one drain into the right cardiac chambers. Similar to total APVC, the presence of an unrestrictive atrial septal defect is critical for survival in the first months of life. Reduced exercise tolerance, severe dyspnea, and palpitations are early symptoms and generally survival beyond infancy is rare without surgical treatment. To date, no cases of this rare CHD without associated atrial septal defect have been diagnosed in adulthood. In addition, our patient also showed a type IIIA2 left cor triatriatum, in which the pulmonary venous chamber is separated from the true left atrium by a fibromuscular septum. To date, this latter malformation has been reported only in association with partial APVC.

OBJECTIVE Left ventricular (LV) remodelling in prenatally diagnosed LV outflow tract obstructive lesions such as aortic stenosis and aortic coarctation is important for prenatal counselling and postnatal management. The purpose of this study was to document the spectrum and the progression of different LV remodelling patterns and to identify prenatal markers of hypoplastic left heart syndrome (HLHS). METHODS We studied 29 fetuses with LV outflow tract obstruction: 13 with isolated aortic stenosis, 14 with isolated aortic coarctation and two with combined aortic stenosis and aortic coarctation. Echocardiographic evaluation was performed 4 and 8 weeks after the first observation and at birth. RESULTS None of the fetuses had HLHS (LV end-diastolic diameter z score higher than -2) at first prenatal echocardiography (24.5 + or - 3.6 weeks). Fetuses were divided into two groups: group A (n = 25) with a LV end-diastolic volume at birth > 20 ml/m(2); group B (n = 4) with a LV end-diastolic volume at birth < 20 ml/m(2) (LV hypoplasia). At first echocardiographic evaluation, the two groups showed a significantly different aorta to pulmonary ratio (0.44 + or - 0.08 vs. 0.86 + or - 0.14; P < 0.001); other LV echocardiographic features were not significantly different. The growth of the mitral (0.10 + or - 0.02 vs. 0.43 + or - 0.28 mm/week; P < 0.02) and aortic annulus (0.08 + or - 0.01 vs. 0.26 + or - 0.14 mm/week; P < 0.05) was significantly slower in group B. CONCLUSIONS Our data suggest that LV outflow tract obstruction can progressively evolve in HLHS during pregnancy. A smaller aorta to pulmonary ratio was the only significant difference at initial echocardiographic evaluation in the two groups. Moreover, serial echocardiographic examinations are necessary to recognize fetuses at risk for HLHS caused by a subnormal growth rate of the mitral and aortic annulus.

Sudden death is a tragic complication of hypertrophic cardiomyopathy. We report the case of a young patient with hypertrophic cardiomyopathy in whom an episode of atrial fibrillation triggered ventricular fibrillation and cardiac arrest. A 21-year-old man with nonobstructive hypertrophic cardiomyopathy underwent cardioverter-defibrillator implantation for primary prevention of sudden death, after risk stratification with noninvasive strategies. After 6 weeks, during a moderate effort, the patient had a syncopal episode, preceded by palpitations and dizziness, and terminated by the cardioverter-defibrillator. Device interrogation revealed an episode of atrial fibrillation with high ventricular response, spontaneously followed by ventricular tachycardia/fibrillation. Atrial fibrillation is a potential trigger of life-threatening arrhythmias and sudden death in patients with hypertrophic cardiomyopathy. Clinical investigation of risk markers for sudden death should be encouraged to identify high-risk patients who may benefit from a prophylactic therapy with an implantable cardioverter-defibrillator.

Transcatheter closure is now accepted as the first-choice therapeutic option in patients with patent ductus arteriosus (PDA). However, this procedure is still challenging in large PDA and/or younger patients. This study evaluated feasibility and results of this approach in large, symptomatic PDA using different devices.Between April 2000 and July 2004, 57 patients underwent attempt of transcatheter closure of a large PDA at our Institution. Nineteen patients (33.3 %) were on pharmacologic therapy for congestive heart failure. PDA diameter was 3.2+/-1.2 mm (range 1.8-9 mm), resulting in a pulmonary to systemic flow ratio of 2.1+/-1.8 (range 1.4-5).The procedure was successfully performed in 54 patients (94.7%), using the Amplatzer duct occluder (ADO) device (34 patients) or a multiple detachable coil approach (20 patients). Complete PDA occlusion was recorded in 77.8% of patients at 24 hours, 92.6% at 1 month, and 94.4% at last follow-up control (23+/-12 months). PDA morphology and pulmonary to systemic flow ratio did not influence the success rate of the procedure or the residual shunt. A trend toward a higher occlusion rate at any follow-up point was recorded in the ADO group (79.5 vs 75.0% at 24 hours, 97.1 vs 85.0% at 1 month, and 97.1 vs 90% at last follow-up control, p = NS for all comparisons).Percutaneous closure might be considered effective and safe also in large, clinically significant PDA, by tailoring the device choice to the patient size and ductal morphology. In this setting, the multiple coil option revealed as effective as the ADO device over a mid-term follow-up.