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Background: Implantable cardioverter defibrillators (ICD) are widely accepted therapy in children and adolescents who are survivors of cardiac arrest or for high-risk patients with inheritable channelopathies, cardiomyopathies, or congenital heart disease. Initial experience with subcutaneous ICD (S-ICD) systems has shown a high efficacy in adults. However, the use of S-ICD in children and adolescents implies some specific considerations, as the safety for these patients is unknown and recommendations among physicians may vary widely. Methods: We reviewed the data and studied the indications for S-ICD in children and adolescents and discuss the preliminary clinical experience. Results: From a cohort of 297 patients enrolled in the S-ICD “Monaldi care” registry that encompass all the patients implanted in the Monaldi Hospital of Naples, we considered 21 consecutive children and adolescents (mean age 13.9 years, range 8-18 years, mean body weight 59.3 kg, range 38-100 kg) who underwent S-ICD implant from April 2014 to June 2020. Mean follow-up was 41.9±21.9 months. Only one patient presented, 6 weeks after implantation, skin erosion at the inferior parasternal incision that resolved after antibiotic therapy, without the necessity of any system revision. Two patients experienced appropriate shocks and four inappropriate shocks, due to T wave oversensing or atrial arrhythmia. Only one patient, with arrhythmogenic right ventricular dysplasia, required a system revision after 36 months of the first implantation and then a reintervention with a replacement of the S-ICD by a conventional ICD system. Conclusions: Our experience suggests that the S-ICD device can be used in some children over the age of 8 as well as adults, with a similar rate of unwanted side effects, and early evidence of apparent efficacy.

DiGeorge syndrome (DGS), also known as "22q11.2 deletion syndrome" (22q11DS) (MIM # 192430 # 188400), is a genetic disorder caused by hemizygous microdeletion of the long arm of chromosome 22. In the last decades, the introduction of fluorescence in situ hybridization assays, and in selected cases the use of multiplex ligation-dependent probe amplification, has allowed the detection of chromosomal microdeletions that could not be previously identified using standard karyotype analysis. The aim of this review is to address cardiovascular and systemic involvement in children with DGS, provide genotype-phenotype correlations, and discuss their medical management and therapeutic options.

Hybridization- and tag-based technologies have been successfully used in Down syndrome to identify genes involved in various aspects of the pathogenesis. However, these technologies suffer from several limits and drawbacks and, to date, information about rare, even though relevant, RNA species such as long and small non-coding RNAs, is completely missing. Indeed, none of published works has still described the whole transcriptional landscape of Down syndrome. Although the recent advances in high-throughput RNA sequencing have revealed the complexity of transcriptomes, most of them rely on polyA enrichment protocols, able to detect only a small fraction of total RNA content. On the opposite end, massive-scale RNA sequencing on rRNA-depleted samples allows the survey of the complete set of coding and non-coding RNA species, now emerging as novel contributors to pathogenic mechanisms. Hence, in this work we analysed for the first time the complete transcriptome of human trisomic endothelial progenitor cells to an unprecedented level of resolution and sensitivity by RNA-sequencing. Our analysis allowed us to detect differential expression of even low expressed genes crucial for the pathogenesis, to disclose novel regions of active transcription outside yet annotated loci, and to investigate a plethora of non-polyadenylated long as well as short non coding RNAs. Novel splice isoforms for a large subset of crucial genes, and novel extended untranslated regions for known genes--possibly novel miRNA targets or regulatory sites for gene transcription--were also identified in this study. Coupling the rRNA depletion of samples, followed by high-throughput RNA-sequencing, to the easy availability of these cells renders this approach very feasible for transcriptome studies, offering the possibility of investigating in-depth blood-related pathological features of Down syndrome, as well as other genetic disorders.

A 3-months-old infant was urgently admitted for drowsiness and lack of appetite started 24 h before. The ECG showed sinus rhythm with a prolonged AV interval (200 ms) and very large QRS complexes (280 ms) due to Flecainide overdosing following incorrectly administration for poor communication between parents resulted in both giving a dose to the infant. Flecainide serum level was 1.2μg/ml, confirming the diagnosis of an accidental drug intoxication. The patient started continue hydration with a close monitoring. Three hours later a significant narrowing of the QRS complex (150 ms) was observed, then over the following 24 h, the QRS almost completely normalized.

Coarctation of the aorta is a leading cause of morbidity and mortality among adults with congenital heart disease (ACHD). Lifelong surveillance is mandatory to screen for possible long-term cardiovascular events.Left ventricular systolic dysfunction has been reported in association with recoarctation, and association with dilated cardiomyopathy (DCMP) is very rare. Herein, we report the case of a 19-year-old boy with coarctation of the aorta who complained of mild exertional dyspnea. Cardiac magnetic resonance revealed a moderately dilated, hypokinetic left ventricle (LV), with mildly reduced EF (45%), and residual isthmic coarctation was excluded. Genetic tests revealed a heterozygous missense variant in TNNT2 (NM_001001430.2): c.518G>A (p. Arg173Gln). This case highlights the role of careful history taking: a family history of cardiomyopathy should not be overlooked even when the clinical setting seems to suggest a predisposition to hemodynamic factors for LVSD.

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 USA 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 counselling 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.

Transvenous pacemaker (PM) catheters can be unintentionally placed in the left ventricle (LV) during the implantation procedure. An 8-year-old girl was discovered with a malpositioned pm wire, seven years after the implant. Trans-thoracic echocardiogram revealed the lead traversing the inter-atrial septum, crossing the mitral valve and embedded in the basal lateral wall of the LV. This is a report of a 14-year long follow-up after the surgical extraction of the malpositioned PM lead. come easier. Although nowadays a transvenous lead can be placed in children, there is a greater risk of complication in small patients [3]. One extremely rare complication associated with transvenous PM implantation is the inadvertent positioning of pacing lead in the left ventricle [4]. The greater risks depend on the delay of diagnosis of lead malpositions. This report concerns a case of long standing malpositioned PM wire in a paediatric patient and the successive long term follow up after the successful surgical extraction.

Background: The subcutaneous implantable cardioverter defibrillator (S-ICD) is a relatively novel alternative to the transvenous ICD for the treatment of life-threatening ventricular arrhythmias, and is currently used in the clinical practice of several centers. The aim of this analysis was to describe current Italian practice regarding S-ICD implantation and its evolution over the years. Methods: We analyzed 607 consecutive patients (78% male, 48 ± 16 years) who underwent S-ICD implantation in 39 Italian centers from 2013 to 2017. Results: Structural cardiomyopathy was present in 78% of patients and 30% of patients received their device for secondary prevention. The proportion of patients with dilated cardiomyopathy and with left ventricular ejection fraction ≤35% increased from ≤2014 to 2017 (from 38% to 58%, from 33% to 53%, respectively; both p < 0.05). Almost all procedures (97%) were performed in electrophysiology laboratories. Over the last 4 years, the 2-incision implantation technique has been widely adopted, with sub- or inter-muscular positioning of the generator, under local anesthesia or deep sedation (≤2014 versus 2017: all p < 0.001). Defibrillation testing was performed in 81% of patients. Shock energy of ≤65 J was successful in 93.9% of patients and the overall cardioversion success rate at ≤80 J was 99.8%. Conclusions: Our analysis confirmed that the S-ICD continues to be preferentially used in specific patients (younger, less frequently with dilated cardiomyopathy and low ejection fraction.). Nonetheless, we noted a trend toward the wider use of S-ICD in patients with dilated cardiomyopathy and systolic dysfunction over the years. Novel approaches have been adopted while the acute efficacy of the system has remained stably high.

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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

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.

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

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.

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

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.

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.

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 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.

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.

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.

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.

Aim To study, by conventional echocardiography, left ventricular remodelling and function in master athletes, hypertension and hypertrophic cardiomyopathy. Methods We studied 30 master athletes (MA; soccer players; mean age 43.9±5.9), 24 subjects with essential hypertension (HYP; 46.6±6), 20 patients with hypertrophic cardiomyopathy (HCM; 42.2±9) and 30 normal individuals (CG; 43.4±5). An integrated M-mode/two-dimensional echocardiographic analysis was performed to determine chambers dimensions, relative wall thickness (RWT) and left ventricular mass (LVM), indexed to height in meters raised to the power of 2.7 (LVM/ h 2.7 ). Cut-off levels for LVM/ h 2.7 and RWT were defined to assess 4 different patterns of LV geometric remodelling. In addition, we measured indexes of global systolic performance and indexes of global diastolic function. Results LV wall thickness and LV end-diastolic dimensions were higher in MA than controls, but significantly lower than other groups. LVH/h 2.7 was increased in 79% of HYP and in 95% of HCM, but was within the normal limits in MA. LV geometry was normal in 22 out of 30 MA (73%), while the remaining (8 athletes, 27%) showed a concentric remodelling. Systolic function (FS and EF) was normal in MA, but was slightly reduced in HYP and increased in HCM. Analysis of diastolic function showed an abnormal relaxation pattern in all HYP and 95% of HCM, but was normal in all MA. The ratio between peak filling rate and stroke volume (PFR/SV), a relatively independent index of diastolic function, was significantly greater in hypertensive patients with normal LV remodelling compared to those without it (4±0.39 vs. 4.91±0.19; P =0.0002). Conclusion MA showed lower values of wall thickness, LV dimensions and LV mass compared with HYP and HCM. Despite an abnormal remodelling, all the athletes showed a normal systolic and diastolic function. The differential diagnosis between MA, HYP and HCM is feasible by accurate, comprehensive standard Doppler echocardiography.

Background: Congenital heart disease (CHD) is the most common malformation in the fetal and neonatal period but little is known about its cause. The distribution analysis of CHD in dizygotic twins could provide a useful tool to evaluate the role of genetic and environmental factors in the development of CHD. Dizygotic twins are siblings with different genes, growing together in the same womb. Aim of study: To investigate the occurrence of CHD in a large sample of dizygotic twins of nonconsanguineous healthy parents, comparing the data from non-twin patients. Methods: From January 1999 to December 2002, we enrolled 1743 CHD patients with, at least 1 sibling, and 66 pairs of dizygotic twins, referred to our tertiary center. The diagnosis of CHD was based on clinical and echocardiographic evaluation. Results: Considering only the sibling nearest in age for each non-twin patient the recurrence was 67/1743 (3.8%). Among these 67 patients, 35 (52.2%) had a sibling with the same or similar CHD. Conversely, considering all 1886 siblings, recurrence of CHD in the non-twin group was 70/1743 (4%). Of the 70 patients, 36 (36/70, 51.4%) had a sibling with the same suspected pathogenic mechanism of CHD. In 9/66 pairs of twins (13.6%), both siblings had a CHD. In the nine pairs of twins in whom both siblings had a CHD, the percentage of concordance (based on the suspected pathogenic mechanism) for CHD was 100% ( p Conclusions: Our findings suggest that the higher recurrence and concordance of CHD found in dizygotic twins could depend on some poorly identified environmental risk during the pregnancy.