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Competing Interests: Conflict of interests: The authors declare that they have no conflict of interests to disclose in relation to this paper.

Background: Left pulmonary artery (LPA) sling (PAS) is a vascular ring, which is frequently associated with long-segment tracheal stenosis (TS). Mortality rate in operated children is still high, especially in cases of severe tracheal hypoplasia and/or associated congenital heart defects (CHDs). We report our experience of treatment and follow-up in a pediatric cohort of patients affected by PAS with severe tracheobronchial involvement., Methods: From 2005 to 2017, we enrolled 11 children diagnosed with PAS and congenital TS requiring surgical intervention. Echocardiography, computed tomography, and bronchoscopy were performed in all patients. Associated CHD were present in 5 (45%) patients. Tracheal reconstruction techniques included slide tracheoplasty (7/11; 63%), slide tracheoplasty and costal cartilage graft (2/11; 18%), and Hazekamp technique (2/11; 18%).Nine patients underwent LPA direct reimplantation and concomitant tracheoplasty; concomitant surgical repair for CHD was performed in three children., Results: Over a mean follow-up of 30 months (range: 3-75 months), a late mortality of 18% was registered; no early death occurred. Good flow through LPA could be documented in all patients. Ten children required operative bronchoscopies (mean: 16/patients) aimed at stent positioning/removal, treatment of granulomas, and tracheobronchial dilatation., Conclusions: Severe tracheobronchial stenosis and associated CHD were the main determinants for hospitalization time, intensive assistance, and repeated endoscopic procedures.Patients affected by PAS/TS complex require a careful management at high-specialized centers providing multidisciplinary team.Respiratory endoscopy may play a central role both in preoperatory assessment and in postoperative management of patients showing severe tracheobronchial involvement., Competing Interests: None., (Georg Thieme Verlag KG Stuttgart · New York.)

Premature ventricular complexes (PVCs) are frequently documented in children. To date, few studies report long-term follow-up in pediatric cohorts presenting with frequent PVCs. The aim of this study is to assess the clinical relevance and long-term outcomes of frequent PVCs (≥ 500/24 h) in a large pediatric cohort. From 1996 to 2016, we enrolled all consecutive patients evaluated at Anna Meyer Children Hospital for frequent PVCs. Symptomatic children were excluded together with those patients with known underlying heart diseases; thus, our final cohort of study included 103 patients (male 66%; mean age 11 ± 3.4 years), with a mean follow-up of 9.5 ± 5.5 years. All patients were submitted to complete non-invasive cardiologic evaluation. The mean number of PVCs at Holter Monitoring (HM) was 11,479 ± 13,147/24 h; couplets and/or triplets were observed in 5/103 (4.8%) cases; 3 patients (2.9%) presented runs of non-sustained ventricular tachycardia (NSVT). High-burden PVCs (> 30,000/24 h) was confirmed in 11/103 (10.6%) patients. During the follow-up, only five patients (4.8%) developed clinical symptoms (3 for palpitations, 1 myocardial dysfunction due to frequent PVCs and NTSV; 1 arrhythmogenic cardiomyopathy); no deaths occurred. Basal PVCs were still present in 45/103 (43.7%) patients. Our data suggest that frequent PVCs may be addressed as a benign condition and should not preclude sport participation if not associated with cardiac malformations, heart dysfunction, or cardiomyopathy. This seems to be true also in presence of very frequent/high-burden PVCs. Otherwise, a careful follow-up is mandatory since sport eligibility should be reconsidered in case of onset of symptoms and/or ECG/echocardiographic changes.

The complexity of cardiovascular diseases has led to an extensive use of technological instruments and the development of multimodality imaging. This extensive use of different cardiovascular imaging tests in the same patient has increased costs and waiting times.The concept of appropriateness has changed over time. Appropriateness criteria address the need for specific cardiovascular imaging tests in well-defined clinical scenarios, and define the kind of cardiovascular imaging that is appropriated for each clinical scenario in different stages of the disease. The concept of appropriateness criteria has replaced the old idea of appropriate use criteria and reflects the increasing effort of the international Scientific Societies to create and review in a critical way the management of diagnostic tests used by clinicians.The aim of this Italian consensus document is to address the use of multimodality imaging in the diagnosis and management of the major cardiovascular clinical scenarios, taking into consideration not only the international guidelines and scientific documents already published, but also the reality of Italian laws as well as the various professional profiles involved in patient management and availability of technological diagnostic instruments.

Echocardiographic quantification is crucial for the diagnosis and management of patients with acquired and congenital heart disease (CHD). In neonatal and pediatric age, the echocardiogram begins with subxiphoid, or subcostal, imaging instead of left parasternal views. This allows for the determination of visceral situs (site or location) at the beginning of an examination. Regardless of where the examination starts, the segmental approach is used to describe all of the major cardiovascular structures in sequence. Patent foramen ovale is a normal interatrial communication during fetal life. Complete anatomic closure of the foramen ovale occurs in 70-75% of adults, which means that almost 25% of the population has a patent foramen ovale. Atrial septal defects are a common congenital disorder with a prevalence of approximately 2 per 1000 live births. The reported rate of spontaneous atrial septal defect closure in the first year of life ranges from 4% to 96%. The most important predictor for spontaneous closure is the size of the defect, with smaller defects more likely to close. Systemic-to-pulmonary collateral arteries can occur in premature infants without chronic lung disease and may represent a transient phenomenon. They may be present normally after birth and then gradually disappear. Physiological valvular regurgitation is most commonly observed in the tricuspid valve among children (32.8%), followed by pulmonary regurgitation (17.2%). The ductus arteriosus usually is functionally closed within 48 h of birth, although some authors consider the patent ductus to be abnormal only after 3 months of age. Prematurity clearly increases the incidence of patent ductus arteriosus.

Pathology studies demonstrated that coronary fatty streaks develop early in life and that even more advanced fibrous plaques are present in a proportion of adolescents. The presence and extent of atherosclerosis in children and adolescents can be correlated with the same risk factors present in adults; as well as, childhood levels of these risk factors predict adult cardiovascular diseases. Children are born with ideal cardiovascular health but, unfortunately, most of them develop over time modifiable behavioral risk factors. Achieving sustained lifestyle changes initiated too late in adults is difficult, and pharmacologic risk factor control cannot fully restore a low-risk state. Therefore, it seems eminently reasonable to initiate healthful lifestyle training as early in life, decreasing the prevalence of cardiovascular risk factors to retard atherogenic processes and reduce the future burden of cardiovascular diseases. Many guideline recommendations encourage universal adoption of healthier lifestyles, identification of children with cardiovascular risk factors, and their treatment using targeted lifestyle modification and, rarely, pharmacotherapy. Major gains will likely accrue from public health strategies targeting incorrect diet, physical activity, and cigarette smoking. Individualized strategies, however, will initially focus on the highest risk children such as those with familial hyperlipidaemia, diabetes, hypertension, and obesity. The primary purpose of this article is to provide a broad overview on the long-term cardiovascular effects of risk factors in children and youth and to outline various lines of evidence for the efficacy of primordial and primary prevention in young people, as well as recommendations for population- and individual-level strategies and evidence-based interventions.

Background: Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like (MELAS) syndrome is a rare condition with heterogeneous clinical presentation. Cardiac involvement commonly develops during adulthood, comprising both structural and conduction/arrhythmic abnormalities; early paediatric onset has rarely been reported. We describe the clinical profile, outcome and clinical implication of MELAS-associated cardiomyopathy at a tertiary referral centre., Methods: From 2000 to 2016 we enrolled 21 patients affected by genetically-proven MELAS. Patients were followed-up at least annually over a mean of 8.5 years., Results: All patients carried the MT-TL1 3243A>G mutation. Cardiac involvement was documented in 8 (38%) patients (three <18 years; five ≥18 years), including 6 (75%) with hypertrophic cardiomyopathy, 1 (12.5%) with dilated cardiomyopathy, and 1 (12.5%) with persistent pulmonary hypertension. During follow-up, 3 patients died, all with cardiac onset <18 years. The cause of death, however, was non-cardiac (infections, respiratory failure, stroke). Neither events nor cardiac progression were recorded among patients with onset ≥18 years. Adult cardiologists were responsible for 5/8 of referrals, even in patients with long-standing extra-cardiac involvement., Conclusions: Cardiac involvement was found in over 1/3 of patients with MELAS syndrome, and exhibited a bimodal age-related distribution with distinct final outcomes. Paediatric-onset cardiomyopathy represented a hallmark of systemic disease severity, without being the main determinant of outcome. Conversely, adult-onset cardiomyopathy appeared to represent a mild and non-progressive mid-term manifestation. Adult cardiologists played an important role in the diagnostic process, triggering suspicion of MELAS in most of patients diagnosis >18 years., (Copyright © 2018 Elsevier B.V. All rights reserved.)

Background: The epidemiological data on the incidence of congenital heart defects derive from retrospective registries based on birth discharge codes with methodological limits and different selection criteria. Our aim was to determine the actual incidence of congenital heart defects in the first year of life in a population of residents in a province of Tuscany, Italy., Methods: This prospective study was conducted in 31 185 newborn residents in the province, enrolling a consecutive population throughout the first year of life and followed up at least for one year. The population cohort was controlled and merged with a retrospective research of the diagnostic codes derived from hospital discharge records of the region of Tuscany., Results: A congenital heart disease was suspected in 10 167 newborns, 32.6% of all live births. Overall, 524 defects were diagnosed (5.2% of the exams), with an incidence at birth of 16.8/1000/year (M/F ratio 0.84). Isolated ventricular septal defects were 343 and 198 spontaneously closed within one year, therefore, the total number dropped to 326 with a one-year incidence of 10.35/1000/year. Besides ventricular septal defects, the most common defects were atrial septal defects (7.3%), followed by ductus arteriosus (4.2%), aortic coarctation (4%), pulmonary stenosis (3.3%) and tetralogy of Fallot (3.1%)., Conclusions: The one-year inclusion period and follow-up allowed us to exclude those defects whose hemodynamic significance is not clear at birth, or are spontaneously reversible within the first year of life. Nevertheless, with the inclusion of defects not evident at birth, congenital heart defects are still common.

Importance: Predictors of lethal arrhythmic events (LAEs) after a pediatric diagnosis of hypertrophic cardiomyopathy (HCM) are unresolved. Existing algorithms for risk stratification are limited to patients older than 16 years because of a lack of data on younger individuals., Objective: To describe the long-term outcome of pediatric-onset HCM and identify age-specific arrhythmic risk factors., Design, Setting, and Participants: This study assessed patients with pediatric-onset hypertrophic cardiomyopathy diagnosed from 1974 to 2016 in 2 national referral centers for cardiomyopathies in Florence, Italy. Patients with metabolic and syndromic disease were excluded., Exposures: Patients were assessed at 1-year intervals, or more often, if their clinical condition required., Main Outcomes and Measures: Lethal arrhythmic events (LAEs) and death related to heart failure., Results: Of 1644 patients with HCM, 100 (6.1%) were 1 to 16 years old at diagnosis (median [interquartile range], 12.2 [7.3-14.1] years). Of these, 63 (63.0%) were boys. Forty-two of the 100 patients (42.0%) were symptomatic (defined as an New York Heart Association classification higher than 1 or a Ross score greater than 2). The yield of sarcomere gene testing was 55 of 70 patients (79%). During a median of 9.2 years during which a mean of 1229 patients were treated per year, 24 of 100 patients (24.0%) experienced cardiac events (1.9% per year), including 19 LAEs and 5 heart failure-related events (3 deaths and 2 heart transplants). Lethal arrhythmic events occurred at a mean (SD) age of 23.1 (11.5) years. Two survivors of LAEs with symptoms of heart failure experienced recurrent cardiac arrest despite an implantable cardioverter defibrillator. Risk of LAE was associated with symptoms at onset (hazard ratio [HR], 8.2; 95% CI, 1.5-68.4; P = .02) and Troponin I or Troponin T gene mutations (HR, 4.1; 95% CI, 0.9-36.5; P = .06). Adult HCM risk predictors performed poorly in this population. Data analysis occurred from December 2016 to October 2017., Conclusions and Relevance: Pediatric-onset HCM is rare and associated with adverse outcomes driven mainly by arrhythmic events. Risk extends well beyond adolescence, which calls for unchanged clinical surveillance into adulthood. In this study, predictors of adverse outcomes differ from those of adult populations with HCM. In secondary prevention, the implantable cardioverter defibrillator did not confer absolute protection in the presence of limiting symptoms of heart failure.

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.

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.

Heart transplant (HT) has been considered as a therapy for pediatric end-stage heart failure (HF) for more than four decades. Children with HF represent a very heterogeneous population, affected by different congenital or acquired heart diseases. Progresses in cardiac surgery and medical therapies, leading to improved prognosis, require periodic re-assessment of indications to HT. Systemic diseases, inherited inborn errors of metabolism, genetic syndromes or associated extra-cardiac malformations can contraindicate HT. In these conditions a tailored evaluation is needed. Pediatric heart disease, which more often may be an indication to HT, as well as prognostic parameters in pediatric HF are discussed.

We describe a rare case of right aortic arch (RAA) and nonconfluent pulmonary arteries. RAA and a right-sided arterial duct (AD) were identified on the prenatal scan, but a second left-sided AD and disconnection of the left pulmonary artery were missed. The missed diagnosis in fetal life adversely affected postnatal management. We suggest that fetuses with a prenatal diagnosis of RAA and right-sided AD be delivered in tertiary care centres to rule out an association with bilateral AD and nonconfluent pulmonary arteries after birth. Prompt postnatal diagnosis will enable preservation of flow in the disconnected pulmonary artery through prostaglandin E1 infusion until surgical reconstruction., (Copyright © 2015 Canadian Cardiovascular Society. Published by Elsevier Inc. All rights reserved.)

PHACE is a rare congenital neurocutaneous syndrome where posterior fossa malformations, hemangiomas, cerebrovascular anomalies, aortic arch anomalies, cardiac defects, and eye abnormalities are variably associated. We describe the prenatal detection and the postnatal course of a child with PHACE syndrome with a unique type of aortic arch anomaly consisting of proximal interruption of the aortic arch and persistence of the fifth aortic arch. The fifth aortic arch represented in this case a vital systemic-to-systemic connection between the ascending aorta and the transverse portion of the aortic arch allowing adequate forward flow through the aortic arch without surgical treatment., (© 2015, Wiley Periodicals, Inc.)

Pulmonary arterial hypertension (PAH) is a common finding in patients with congenital heart disease (CHD), and has relevant prognostic implications. The recent introduction of advanced therapies (AT) considerably improved the clinical outcome of these patients, but real-world data are still lacking. We aimed at reporting the results of a long-term follow-up of CHD patients with PAH undergoing AT, followed at a tertiary Center during the two last decades. The study population included a total of 34 patients with an established diagnosis of CHD-related PAH. In addition to conventional treatment, 97% of patients started AT during the follow-up. Over a median follow-up of 9 [3-31] years, 11 (32.4%) patients died: 7 of them were affected by Eisenmenger syndrome and the majority of patients were in NYHA class ≥3 at the time of death. Among the 23 patients who were alive at the last follow-up, the majority were in NYHA class I-II. Oxygen saturation and 6-min walking distance improved in all subjects within the first 6 months after starting of AT. One patient with ventricular septum defect and high pulmonary resistances was successfully treated with AT to lower resistances and underwent defect closure. A good clinical outcome was also observed in the subset (n = 8) with Down syndrome. The results of this real-world experience suggest that, despite a relatively high mortality rate mostly related to late commencement of AT, the clinical outcome of subjects with CHD-related PAH undergoing AT are characterized by a good quality of life and clinical improvement in most patients.

Aim. We investigated the predictors of tissue Doppler left ventricular (LV) longitudinal indexes in a healthy Italian pediatric population and established normative data and regression equations for the calculation of z scores. Methods and Results. A total of 369 healthy subjects aged 1-17 years (age of 6.4 ± 1.1 years, 49.1% female) underwent echocardiography. LV peak longitudinal velocity at systole (s (')), early diastole (e (')), and late diastole (a (')) was determined by tissue Doppler. The ratio of peak early diastolic LV filling velocity to e (') was calculated. Age was the only independent determinant of s (') (β = 0.491, p < 0.0001) and the strongest determinant of e (') (β = 0.334, p < 0.0001) and E/e (') (β = -0.369, p < 0.0001). Heart rate was the main determinant of a (') (β = 0.265, p < 0.0001). Male gender showed no effects except for a weak association with lateral s ('), suggesting no need of gender-specific reference ranges. Age-specific reference ranges, regression equations, and scatterplots for the calculation of z scores were determined for each index. Conclusion. In a pediatric Italian population, age was the strongest determinant of LV longitudinal dynamics. The availability of age-specific normality data for the calculation of z scores may allow for correctly detecting LV dysfunction in pediatric pathological populations.

Anomalous left coronary artery from pulmonary artery (ALCAPA) is a rare congenital anomaly in which left coronary artery arises from the pulmonary artery resulting in progressive myocardial ischemia and dysfunction of the left ventricle. We report a case of ALCAPA with severe cardiac and respiratory failure and huge heart dilation compressing the left main bronchus and preventing from an effective ventilation. Emergency bronchial stenting allowed to improve left lung atelectasis, reduce pulmonary hypertension, resume anterograde left coronary artery perfusion and stabilize cardiovascular conditions to undertake a successful surgical correction., (Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.)

The aim of this study was to explore the medium-term clinical outcome and the risk of progression of aortic valve disease and aortic dilation in pediatric patients with isolated bicuspid aortic valve (BAV). 179 pediatric patients with isolated BAV were prospectively followed from January 1995 to December 2010. Patients with severe valve dysfunction at baseline were excluded. Clinical outcome included cardiac death, infective endocarditis, aortic complications, cardiac surgery and percutaneous valvuloplasty. Echocardiographic endpoints were: progression of aortic stenosis (AS) or regurgitation (AR) and progressive aortic enlargement at different levels of the aortic root, evaluated as z-score. The median age at diagnosis was 7.8 [2.7-12.0] years. After a median followup of 5.4 [2.3-9.2] years, all patients were alive. The clinical endpoint occurred in 4 (2.2 %) patients (0.41 events per 100 patient-years). A progression of AS and AR was observed in 9 (5.0 %) and 29 (16.2 %) patients, respectively. The z-scores at the end of follow-up were not significantly different from baseline at the annulus, Valsalva sinuses and sinotubular junction, whereas a slight increase was observed at the level of the ascending aorta (1.9 vs 1.5, p = 0.046). Significant progressive aortic dilation occurred in a minority of patients (10.6, 5.6, 9.5, and 19.0 % respectively). The clinical outcome in pediatric patients with isolated BAV is favourable and the progression of aortic valve dysfunction and aortic dilation is relatively slow. These findings may be taken into account to better guide risk assessment and clinical follow-up in these patients.

The association of pulmonary atresia and ventricular septal defect (PA/VSD) can be considered the most severe form of tetralogy of Fallot. The main feature of this congenital heart disease is represented by discontinuity between the right ventricle and pulmonary trunk or its branches; the anatomy of central pulmonary arteries is often abnormal, consequently the type and the amount of sources of pulmonary blood flow are variable. Due to evolution in surgical techniques, definitive correction is now also considered in more complex cases. A small rate of unoperated patients with PA/VSD can survive until adulthood and the arterial blood supply to the lungs, provided by major aorto-pulmonary collateral arteries (MAPCAs), is one of the main determinants of survival. We report two unoperated cases of PA/VSD and MAPCAs with long-term survival. Giant MAPCAs can occasionally be found by chest radiography in adults with unrepaired PA/VSD. Moreover, non-invasive assessment of the pulmonary arterial bed with computer tomography or MRI is helpful in these patients during follow-up. Finally, we discuss the use of oral anticoagulants and/or 5-phosphodiesterase inhibitors in these patients.

Controversial data exist about the long-term results of aortic coarctation (AC) repair. This study explored the prevalence and predictors of left ventricular (LV) hypertrophy, late hypertension, and hypertensive response to exercise in 48 subjects (age, 15.1 ± 9.7 years) currently followed in the authors' tertiary care hospital after successful AC repair. Data on medical history, clinical examination, rest and exercise echocardiography, and ambulatory blood pressure monitoring were collected. The time from AC repair to follow-up evaluation was 12.9 ± 9.2 years. The prevalence of LV hypertrophy ranged from 23 to 38 %, based on the criteria used to identify LV hypertrophy, and that of concentric geometry was 17 %. One sixth of the patients without residual hypertension experienced late-onset hypertension. One fourth of those who remained normotensive without medication showed a hypertensive response to exercise. Age at AC repair was the strongest independent predictor of LV hypertrophy, defined using indexation either for body surface area (odds ratio [OR], 1.03; p = 0.0090) or for height(2.7) (OR 1.02; p = 0.029), and it was the only predictor of late hypertension (OR 1.06; p = 0.0023) and hypertensive response to exercise (OR 1.09; p = 0.029). The risk of LV hypertrophy was 25 % for repair at the age of 3.4 years but rose to 50 and 75 % for repair at the ages of 5.9 and 8.4 years, respectively. Similar increases were found for the risk of late-onset hypertension and hypertensive response to exercise. A considerable risk of LV hypertrophy, late hypertension, and hypertensive response to exercise exists after successful AC repair. Older age at intervention is the most important predictor of these complications.

Aims: The clinical features of the adult population with congenital heart disease (CHD) are still not well characterized, particularly in the subset with more severe lesions. We report the data collected in the National Association of Hospital Cardiologists Toscana grown-up CHD (GUCH) registry over its first 8-month enrolment period., Methods: The Registry included consecutive patients aged more than 16 years with a documented diagnosis of CHD, enrolled in seven different Tuscan hospitals using a web-based electronic form. Severe CHD was defined as cyanotic CHD, or acyanotic lesion with significant haemodynamic impact requiring surgical and/or percutaneous correction., Results: Between November 2009 and June 2010 a total of 1641 patients (mean age 41.8 ± 19.3 years, 52.2% women) were enrolled. Atrial septal defect was the most common lesion, accounting for more than one-third of cases. Atrial and ventricular septal defects together accounted for about half of all CHDs. Nearly one-third of patients had New York Heart Association (NYHA) class 2 or more. A history of recurrent arrhythmias was reported in 15% of cases, and 12% of patients were on oral anticoagulants at the time of enrolment. The prevalence of pulmonary hypertension was 6%, and the prevalence of Eisenmenger syndrome was 1.2%. Severe CHD was present in 42% of patients. Younger age, higher NYHA class, male sex, and the need for oral anticoagulants were the only independent predictors of severe CHD., Conclusion: Information about the clinical characteristics and the CHD type distribution of a sample of Tuscan GUCH population was provided. Severe CHD accounts for about 40% of all CHDs in this population. CHD severity is associated with younger age, male gender, worse NYHA class, and need for oral anticoagulation.

Isolated ventricular premature beats are the most common arrhythmia in clinical practice. Not all ventricular premature beats are equal, as they may evolve into worsening of the arrhythmia and even severe left ventricular dysfunction in some subsets of patients, particularly those with frequent ventricular premature beats originating from the left ventricle. The resulting systolic dysfunction is reversible following arrhythmia termination. Radiofrequency ablation allows us to achieve effective and safe results and should be considered the treatment of choice. We report a case of left ventricular dysfunction without signs of structural heart disease, secondary to left ventricular premature beats evolved into runs of non-sustained ventricular tachycardia, successfully treated with radiofrequency ablation of the arrhythmic focus.

Despite the recent advances, the clinical approach to persistent pulmonary hypertension of the newborn (PPHN) still represents an important challenge for neonatologists. The care of newborns with PPHN requires meticulous therapeutic and ventilation strategies including, besides the stabilization of the newborn, the use of nitric oxide and high-frequency ventilation. However, not all the neonates with PPHH are responsive to this clinical approach. Recent studies have proposed the use of sildenafil, a phosphodiesterase 5 inhibitor, in refractory forms of PPHN. The aim of this study is to review the cases and the clinical approach of PPHN in the Neonatal Intensive Care Unit of Meyer Children Hospital in the year 2009 and to discuss the possible role of sildenafil in the management of PPHN.

Controversies in the therapy of congenital complete heart block are reviewed in terms of the timing of pacemaker implantation, the type and complications of pacing and its role in the presence of myocardial dysfunction. Drug treatment may be useful in selected cases in the presence of pleural effusions, ascites and hydrops of the fetus, but have no effect on complete heart block. Administration of fluorinated steroids in anti-Ro antibody-positive mothers with the aim of preventing complete heart block has given controversial results. Because of the variety of the clinical presentations, especially in regard to pacing therapy, it is mandatory to refer patients with congenital complete heart block to specialized centers with adequate resources and experienced personnel.

Objective: Plasma levels of brain natriuretic peptide (BNP) and its inactive fragment N-terminal pro-BNP are recognized as reliable markers of ventricular dysfunction in adults. We aimed to verify BNP applications in children., Methods: A review of the literature on this subject was carried out., Results: When dealing with paediatric patients, age and sex-related normal values must be considered. Higher BNP plasma levels are reported in children with chronic heart failure; they are related with the type of dysfunction and with prognosis. Moreover, increased BNP levels have been reported in asymptomatic children and adolescents pretreated with anthracyclines, who are at risk for ventricular dysfunction., Conclusion: BNP and pro-BNP also seem to be effective markers of ventricular dysfunction in paediatric patients. Clinical use may be extended not only for the characterization of heart dysfunction, but also for monitoring asymptomatic patients at specific risk. To this purpose, wider application in clinical trials appears warranted.

Background: A 10-year-old boy presented with a history of severe angina on exertion. A two-dimensional echocardiogram showed mild asymmetric left ventricular (LV) hypertrophy localized to the interventricular septum, consistent with nonobstructive hypertrophic cardiomyopathy. A maximal treadmill exercise test was terminated early owing to marked downsloping of the ST-T segment on all precordial leads, associated with mild chest discomfort. Cardiac MRI and coronary angiography showed that the left anterior descending (LAD) artery was 'tunneled' from its origin to the junction of the middle and lower segments, causing systolic obliteration. PET showed diffusely blunted myocardial blood flow after dipyridamole infusion. A beating-heart technique was used to perform surgical mobilization of the superficial and lateral surfaces of the LAD artery. The patient was free from angina at 6 months after surgery. A repeat exercise test showed considerable improvement in exercise tolerance, which was associated with a marked decrease in ST-T changes on exertion., Investigations: Physical examination, laboratory tests, 12-lead electrocardiography, two-dimensional echocardiography, exercise testing, cardiac MRI, coronary angiography, PET, Holter electrocardiographic monitoring., Diagnosis: Angina caused by extensive myocardial tunneling of the LAD artery in nonobstructive hypertrophic cardiomyopathy., Management: Bisoprolol therapy and surgical mobilization of the tunneled LAD artery.

A rare case of a 14-year-old child with congenital mitral insufficiency secondary to hypoplasia of the posterior leaflet is reported. Echocardiography revealed the almost complete absence of the posterior mitral leaflet, which determined massive regurgitation. At surgical inspection the posterior leaflet was almost completely absent, represented only by tags of fibrous tissue that strictly adhered to the posterior annulus with a total absence of chordae inserting into the hypoplastic leaflet. The mitral valve was successfully repaired by restrictive annuloplasty, which gained a satisfactory surface of coaptation between the anterior leaflet and the primordial posterior structure, resulting in stable valve continence.

Echocardiographic diagnosis of absent pulmonary valve syndrome and muscular ventricular septal defect was made in a fetus of gestational age 25 weeks referred for marked dilation of the right ventricle at obstetric ultrasound examination. Delivery was planned in a tertiary-level center. The neonate became severely symptomatic for respiratory distress and heart failure during the second day of life. His clinical condition dramatically improved after surgical closure of a large ductus arteriosus. The child is still asymptomatic 30 months later. In the minority of cases with absent pulmonary valve not associated with tetralogy of Fallot, irrespective of the presence of muscular ventricular septal defect, early closure of the ductus may be crucial to improve hemodynamic conditions and postpone surgical correction.

A case of an adult patient with congenital complete heart block is reported in whom acute heart failure followed pacemaker implantation. It is uncertain whether the associated cardiomyopathy was present since birth, although right ventricular pacing was probably responsible for further deterioration of myocardial function. Synchronous pacing of both ventricles might be recommended in these patients.

Congenital coronary artery anomalies are a rare cause of major cardiovascular events in adolescents who practise sports activities. Therefore, symptoms suggestive of cardiac ischaemia should always be carefully considered and subjects should undergo a complete cardiovascular assessment. We describe the case of a young non-competitive athlete, referring episodes of exertional chest pain and syncope, in whom multiple imaging techniques allowed the diagnosis of intramural course of the left anterior descending coronary artery.

An unusual case of severe supravalvular stenosing ring of the left atrium associated with tricuspid valve dysplasia in an adult symptomatic patient affected by congenitally corrected transposition and unrestrictive ventricular septal defect is reported. The stenosis of the systemic atrioventricular valve possibly prevented the development of obstructive pulmonary vascular disease; removal of the membrane, attached to the tricuspid annulus, together with pulmonary banding was carried out. Clinical conditions improved after surgery. The unusual stenotic lesion of the systemic right ventricular inflow allowed conservative surgical palliation in this adult patient.

In this report we present the case of a 15-month-old girl with hyponatraemic-hypertensive syndrome (HHS) caused by stenosis of the left renal artery. On sonographic examination the contralateral non-stenotic kidney appeared enlarged and with cortical hyperechogenicity mimicking a parenchymal lesion. After successful percutaneous transluminal angioplasty, when the girl became normotensive, her serum electrolyte and acid-base balance became normal within a few days. The contralateral non-stenotic kidney hyperechogenicity also disappeared, but only after a period of 6 months, suggesting parenchymal damage due to tubulointerstitial injury, even though reversible. Our case confirms that renovascular hypertension may rarely also be present with HHS in children and that metabolic and morphological alterations are reversible after the resolution of arterial stenosis.

Purpose: To compare different strategies in allocating time-window at risk and in choosing optimal comparator in the setting of proarrhythmic effects of antibacterial fluoroquinolones., Design: A population-based cohort study., Setting: Resident population of a Northern Italian Province., Participants: The study cohort comprised 75 226 patients who received at least one prescription for fluoroquinolone from 1997 to 1999. Cohort members who experienced at least an antiarrhythmic drug prescription and/or hospitalisation with diagnosis of arrhythmia during the follow-up were identified., Analysis: Trends in incidence rates of arrhythmia according to different strategies in allocating time-windows at risk were calculated. Standardised incidence ratios were obtained by comparing arrhythmic events experienced by the study cohort during the time-windows at risk with those expected from both external (unexposed target population) and internal (study cohort during reference time-windows) comparators., Results: The rate of arrhythmia was 21.0 per 100 000 person-weeks during the in-treatment period, remained stable during the following week, and progressively decreased until to converge to 7.7 per 100 000 person-weeks from 16th weeks after stop of exposure. Standardised incidence ratios were 2.35 (95%CI: 1.82, 2.99) and 1.86 (1.44, 2.37) according to external and internal comparators respectively. Evidence of linear increasing of proarrhythmic effect with the length of the antibacterial therapy appeared from every approaches, but it was stronger by using internal comparator., Conclusions: Time-windows designs should be performed by allocating the time-windows at risk and comparing outcome events observed in the cohort during these periods with those experienced by the same cohort during an adequate reference period., ((c) 2005 John Wiley & Sons, Ltd.)

Renal artery stenosis, mainly due to fibromuscular dysplasia, is the second more common cause of arterial hypertension in children, after aortic coarctation. Two children sent to our Center of Pediatric Cardiology, one for arterial hypertension and the other for renal failure (associated with severe hypertension not previously recognized) are reported. In both of them the diagnosis of renal artery stenosis was established at Doppler ultrasonography, performed at the time of Doppler echocardiography. Both children were submitted to successful percutaneous transluminal angioplasty; short- and medium-term results are evaluated by Doppler ultrasonography. Renovascular disease is a potentially curable cause of renal artery stenosis in children. Renal artery evaluation by Doppler ultrasound is recommended in all hypertensive children who undergo Doppler echocardiography.

Background: Survival of neonates with critical pulmonary obstruction depends on cardiac morphology and function but also on proper perinatal management., Methods: Postnatal outcome of five neonates with critical pulmonary stenosis or pulmonary atresia detected in utero is reported., Results: Right ventricular morphology and ratio between tricuspid and mitral annulus at Fetal Echocardiography were the most important prognostic parameters. Increasing severity of obstruction and of right ventricular hypoplasia was documented in two fetuses., Conclusion: Prenatal diagnosis was useful for planning delivery; we hypothesize that it can be of benefit on postnatal outcome. In selected cases, earlier delivery and relief of obstruction could have beneficial effect on prognosis.

Background: In patients with heart failure, poor ejection fraction and estimated severe aortic stenosis because of a reduced aortic valve area (AVA) and low gradients, dobutamine echocardiography (DE) was proposed to distinguish afterload mismatch from primary left ventricular dysfunction. In this setting the feasibility and safety of DE and the outcome following management based on DE results were investigated., Methods: Forty-eight patients (mean age 73 +/- 9 years; 79% males; AVA 0.7 +/- 0.2 cm2; mean aortic gradient 22 +/- 6 mmHg; ejection fraction 0.28 +/- 0.07; NYHA functional class 2.9 +/- 0.8) underwent DE and were followed up for 24 +/- 21 months. Aortic valve replacement (AVR) was offered to patients with left ventricular contractile reserve (ejection fraction increase > or = 30% at peak DE) and fixed aortic stenosis (AVA increase < or = 0.25 cm2)., Results: DE elicited a left ventricular contractile reserve in 38 patients (79%). Among these, fixed aortic stenosis was present in 28 patients, among whom 19 underwent AVR and 9 declined surgery. The 20 patients without contractile reserve or with relative stenosis (AVA increase > 0.25 cm2) were not considered eligible for surgery. During follow-up, 23 cardiovascular deaths occurred: 2/19 among operated patients, 7/9 among patients who declined surgery and 14/20 among non-eligible patients. Patients with AVR showed a significantly more favorable outcome and improved functional status as compared to the other two groups (NYHA class 1.2 +/- 0.4 vs 2.7 +/- 0.6 at baseline; p < 0.001). Conversely, non-surgical management was the strongest independent predictor of an adverse outcome (relative risk 3.6, 95% confidence interval 1.8-7.3; p < 0.0001)., Conclusions: In patients with heart failure and estimated severe aortic stenosis, DE could identify a subgroup with a left ventricular contractile reserve and fixed aortic stenosis who gained great benefit from AVR. The clinical outcome of patients who were not operated upon was unfavorable.

Kawasaki disease is an acute generalized self-limiting vasculitis of small and medium size arteries of unknown ethiology, mostly affecting children younger then 5 years of age. Coronary arteries may be involved with aneurysms lesions, thrombotic occlusion, acute coronary syndrome and sudden death. The mortality rate has been significantly reduced by combined therapy of intravenous immunoglobuline (IVIG) and acetil salicylic acid (ASA) from 3% to 0.2%. From February 1986 to November 2001, 121 children, 76 male and 45 females with Kawasaki disease, have been observed at the Paediatric Department, University of Florence. Coronary changes (i.e. coronary ectasia and coronary aneurysms) have been observed in 22.3%. In only one 3-months old child, giant aneurysms of coronary arteries and myocardial necrosis have been detected. In 26 of 27 children at 2D echo a remodelling of the coronary changes within 12 months from the onset of the illness was observed. The mean follow-up has been five years (range 6-138 months) and in no patient further cardiac manifestations have been observed; however, as little is known about the progression of vascular damage, a more protracted follow-up is needed.

Background: The role of cardiac troponin I (cTnI) is well established in acute myocardial ischemia. However, its role in myocardial contusion remains to be clarified. Since transesophageal echocardiography (TEE) appears, at present, to be the best method for the diagnosis of myocardial contusion, the aim of this study was to measure the concentration of cTnI in patients with blunt chest trauma studied using TEE., Methods: Thirty-two patients (27 males, 5 females, mean age 44+/-20 years), admitted to the Trauma Center of our Institution with clinical and/or radiological signs of acute blunt chest trauma, underwent biplane TEE within 24 hours of injury; serial blood samples were taken to measure cTnI levels (normal values < 0.4 ng/ml), using fluorimetric enzyme immunoassay., Results: Abnormal levels of cTnI were found in 17 patients (53%): 7 patients had levels of cTnI between 0.4 and 1 ng/ml, whereas 10 patients had levels > 1 ng/ml. Segmental wall motion abnormalities consistent with myocardial contusion could be identified by echocardiography in 6/10 patients with cTnI levels > 1 ng/ml (60%) but in no patients with normal cTnI levels or with titers between 0.4 and 1 ng/ml; mean cTnI levels showed a significant difference between the two groups of patients with and without echocardiographic signs of myocardial contusion (2.6+/-1.6 vs 0.6+/-1.4 ng/ml, p < 0.001)., Conclusions: Abnormal titers of cTnI suggesting myocardial contusion may be found in more than half of patients with blunt chest trauma; however, myocardial injury can be detected by TEE only for cTnI levels > 1 ng/ml; cTnI concentrations ranging between 0.4 and 1 ng/ml might be indicative of myocardial microlesions, not detectable by echocardiography, even if TEE is used; cTnI assay could therefore be suggested as a screening test before performing TEE after blunt chest trauma.

Background: In previous studies the reported incidence of cardiovascular events among mitral valve prolapse patients has differed more than 10 fold. We endeavored to determine the relation between the clinical features and mode of ascertainment of mitral valve prolapse and the resulting event rate., Methods: Between January 1979 and August 1996, 275 patients (129-47% men, 146-53% women, mean age 43 +/- 19 years), were followed for a mean of 98 months after evaluation in a referral center for valvular heart disease. Comparative data were obtained from a separate, less selected population consisting of 316 patients., Results: A total of 65 events occurred (2.9/100 patient-years): 46 (2.0/100 patient-years) mitral surgery, 12 cardiac deaths (0.5/100 patient-years), 6 neurologic ischemia (0.26/100 patient-years), and 1 infective endocarditis (0.04/100 patient-years). The overall event rate varied significantly according to demographic, clinical and echocardiographic variables (all p < 0.0001). It was higher among males (odds ratio-OR 2.1), subjects > or = 45 years of age (OR 14.7), those with a holosystolic murmur (OR 25.9), an enlarged left ventricle (OR 13.5) or left atrium (OR 34.9) and those with 3-4+ mitral regurgitation at color Doppler echocardiography (OR 40.0). It was lower in those with an audible mid-systolic click (OR 0.05). These ORs closely resembled those we reported previously in a less selected population. At multivariate analysis, male gender (p = 0.013), severe Doppler mitral regurgitation (p = 0.0048), and left atrial enlargement (p = 0.046) were all independent predictors of events., Conclusions: In a population of mitral valve prolapse patients, including many with significant mitral regurgitation at baseline, we identified similar predictors of events but an overall event rate nearly 3 times higher than that we previously reported for relatively unselected patients or family members in New York City (1/100 patient-years). Therefore, the impact of patient selection on the prevalence of mitral regurgitation, older age and male gender strongly affects the adversity of the "natural history" of mitral valve prolapse.

Study Objective: To investigate the utility of capture-recapture methods to estimate prevalence of subjects with alcohol related disorders using multiple incomplete lists., Design: This was a cross sectional study of alcohol related disorders in a large community., Setting: During 1997 identified cases with known alcohol related disorders were independently flagged by four sources (self help volunteering groups; psychiatric ambulatory; public alcohology service; hospital discharges)., Patients: 381 records were flagged, corresponding to 349 individual cases from a target population resident in a northern Italy area., Main Results: The two sample capture-recapture estimates were clearly biased because of dependencies among sources. Estimates based on log-linear models showed prevalent counts ranged from 2297 (95% confidence intervals: 1524, 3794) to 2523 (95% confidence intervals: 1623, 4627) after adjustment for dependence among sources only or also for heterogeneity in catchability among age categories (< 50 and >/= 50 years), respectively., Conclusions: The study suggests that capture-recapture is an appropriate approach for estimating prevalence of subjects with alcohol related problems who seek or need treatment and assistance when different lists of alcoholics can be obtained from different types of agencies involved with problematic use of alcohol. Critical factors are the complexity in case definition and the analysis of heterogeneity among people. Accurate estimates are needed to plan and evaluate public health interventions.

Background: Atrial septal defect (ASD) can be recognized in adult age, mostly in asymptomatic or scarcely symptomatic patients. These patients differ from patients in "historical" clinical series, in whom diagnosis was done on the basis of clinical evidence, and their natural history is probably different., Aim of the Study: Our aim was to verify retrospectively results of surgery versus medical follow-up in an adult population with ASD with age at first diagnosis > or = 30 years., Patients and Methods: Seventy-two patients with ASD, 52 females (72%), observed at our Institution since 1978, were considered. Mean age at diagnosis was 48 +/- 12 years (range 30-79); 36 patients (50%, group A) are still on medical therapy, 36 patients (group B) were operated. As groups A and B did not differ significantly in any demographic, clinical or echocardiographic parameter, they were compared for the incidence of complications., Results: During follow-up (100 +/- 70 months, range 12-240), the incidence of major clinical events showed no significant differences in the two groups, as cardiac death or cardiovascular complications (cerebral ischemic events, severe mitral insufficiency, reoperation) occurred in 4 patients in group A (11%) and in 4 patients in group B (11%). Worsening of NYHA class was observed in 3 patients from group A (8%) and 2 patients from group B (5.5%; p = ns). New onset of supraventricular arrhythmias occurred more frequently in group B (14 patients, 39%) than in group A (5 patients, 14%) (p = 0.01; OR = 3.9; CI 95%: 1.2-12.6)., Conclusions: In an adult population affected with asymptomatic or mildly symptomatic ASD and age at first diagnosis > or = 30 years, surgical closure of the defect did not modify morbidity and mortality at a mid-term follow-up. We suggest that, mostly in older asymptomatic patients, surgery should not be a routine choice and clinical decision-making should be individualized in each case.

A case of verapamil-responsive incessant ventricular tachycardia in a 4-year-old girl is reported. Oral verapamil alone failed in maintaining stable sinus rhythm. With association of oral verapamil and betablockers (nadolol) the patient remained asymptomatic without recurrence of ventricular tachycardia over a follow-up of 1 year. In case of failure of monotherapy with verapamil or betablockers alone, an association of both can be effective and safe also in pediatric age. Radiofrequency catheter ablation should be reserved, especially in pediatric age, only to patients with impaired ventricular function who are not responsive to medical therapy.

Background: Persistent pulmonary hypertension of the newborn (PPHN) is a rare syndrome with a severe prognosis, in which a prompt diagnosis can be life-saving. The aim of our study was to verify its prevalence in a neonatal population, define clinical and echocardiographic criteria for the diagnosis of PPHN and discuss therapeutic choices., Methods: The following clinical and echocardiographic criteria for the diagnosis of PPHN were defined: 1. cyanosis and hypoxemia non-responsive to O2 therapy; 2. right to left shunt at an atrial or ductal level. All neonates fulfilling these criteria referred to the neonatal units of seven pediatric or general hospitals over a two-year period were enrolled., Results: From January 1995 to December 1996, thirty neonates with PPHN (8%) were observed. Birth was pre-term in 5 out of 30. Ten (33%) had experienced chronic and/or fetal asphyxia (FA). Death occurred in 7 (22%), four of whom with FA. Echocardiography showed tricuspid insufficiency in 18 (60%); mean pulmonary systolic pressure was 67 +/- 16 mmHg (range 41-95). In 23 surviving neonates, normalization of clinical and echocardiographic parameters occurred in 8 +/- 5 days., Therapy: In most neonates, vasodilators (tolazoline, prostacyclin) and/or nitric oxide were employed., Conclusions: PPHN is confirmed to be a rare pathological condition; prognosis is severe, particularly in neonates with FA. Echocardiography is a reliable non-invasive method for a prompt diagnosis and follow-up. Subsequent studies are needed to assess therapeutic choices.

Syncope is a common medical problem with multiple potential causes and it is very frequent in pediatric population . Neurocardiogenic syncope has been increasingly recognized with the introduction of head-up tilt test (HUTT). The study investigates the clinical utility of HUTT in the evaluation and management of children with recurrent syncope and structurally normal heart. Two-hundred-forty-three consecutive young patients with recurrent unexplained syncope, 100 males and 143 females (mean age 11.4 years, range 5 to 20) underwent HUTT using a 60 degree tilt for 45 min. The test was considered positive when it provoked symptoms of syncope with hypotension and/or bradycardia. Twenty-six patients (10.7%) were positive for neurocardiogenic syncope. Of the 26 patients with the positive tilt, 5 (19.2%) had cardioinhibitory response, 5 (19.2%) mixed response and 16(61.6%) vasodepressive response. Nineteen of 143 females (13.3%) and 7 of 100 males (7%) resulted positive (NS). Among patients < 10 years of age 3/41 (9.8%) were positive and among > 10 years 22/202 patients (10.9%) resulted positive (NS). The cardioinhibitory response is more frequent in males (p = 0.01), and the vasodepressive in females (p = 0.05). In our study, concerning a non selected pediatric population a positive test resulted in a lower percentage than previously reported; moreover, the tilt test has appeared a promising method of identifying patients requiring pharmacotherapy. Additional randomized controlled studies are necessary to better define the prognosis and treatment of neurocardiogenic syncope in children and adolescents with positive tilt test. Finally, an assessment of the outcome of young patients with syncope and a negative tilt test is needed.

The aim of our study was to characterize the molecular defect in Italian Marfan patients, thus contributing to the effort of correlating the genotype with the phenotype. In particular, our ultimate goal was to identify the region(s) of the fibrillin 1 (FBN1) gene mainly involved in the health of the heart and of the aorta in terms of the cardiovascular system. We searched for a molecular defect in three patients with classic Marfan syndrome (MFS). The mutations were detected applying heteroduplex analysis to each of the 65 exons of the FBN1 gene amplified by polymerase chain reaction (PCR). Exons containing heteroduplex bands were sequenced directly from PCR products. This study reports the detection of three unique missense mutations in the FBN1 gene in three Italian patients: a 44-year-old adult male and 36-year-old female affected by classic MFS (with all the cardinal manifestations in the cardiovascular, ocular and skeletal systems), and an 11-year-old male affected by infantile (earlier onset) classic MFS. The first two are sporadic cases and present a Cys-->Arg amino acid substitution (T-->C substitution at nucleotide 7729) in exon 62 and a Cys-->Tyr amino acid substitution (G-->A substitution at nucleotide 6695) in exon 54. The third is a familial case which presents a Cys-->Trp aminoacidic substitution (C-->G substitution at nucleotide 3546) in exon 28. Our data confirm that cysteine substitutions in calcium binding epidermal growth factor (cbEGF)-like domains cause severe Marfan phenotype. Exon 24-32 cluster seems to produce an even more severe phenotype. The early characterization may be of clinical relevance for prevention and early surgical treatment of aortic aneurysm or dissection.