Double-Outlet Left Ventricle: Case Series and Systematic Review of the Literature.

Double-outlet left ventricle (DOLV) is an abnormal ventriculo-arterial connection characterized by the origin of both great arteries from the morphological left ventricle. The aim of our paper is to describe the morphological and imaging features of DOLV and to assess the prevalence of the associated malformations and their surgical outcomes. METHODS From 2011 to 2022, we retrospectively reviewed the electronic case records of patients diagnosed with DOLV at the Bambino Gesu Children's Hospital. A systematic search was developed in MEDLINE, Web of Science, and EMBASE databases to identify reports assessing the morphology and outcomes of DOLV between 1975 and 2023. RESULTS: Over a median follow-up of 9.9 years (IQR 7.8-11.7 y), four cases of DOLV were identified at our institution. Two patients were diagnosed with (S,D,D) DOLV subaortic VSD and pulmonary stenosis (PS): one patient had (S,D,D) DOLV with doubly committed VSD and hypoplastic right ventricle, and another patient had (S,D,L) DOLV with subaortic VSD and PS (malposition type). Pulmonary stenosis was the most commonly associated lesion (75%). LITERATURE REVIEW: After systematic evaluation, a total of 12 reports fulfilled the eligibility criteria and were included in our analysis. PS or right ventricular outflow tract obstruction was the most commonly associated lesion (69%, 95% CI 62-76%). The most common locations of VSD were subaortic (pooled prevalence: 75%, 95% CI 68-81), subpulmonary (15%, 95% CI 10-21), and doubly committed (7%, 95% CI 4-12). The position of the great arteries showed that d-transposition of the aorta was present in 128 cases (59% 95% CI 42-74), and l-transposition was present in 77 cases (35%, 95% CI 29-43).

Organisational models supported by technology for the management of diabetic disease and its complications in a diabetic clinic setting: study protocol for a randomised controlled trial targeting type 2 diabetes individuals with non-ideal glycaemic values (Telemechron study).

INTRODUCTION: Type 2 diabetes mellitus (T2DM) is a non-communicable disease representing one of the most serious public health challenges of the twenty-first century. Its incidence continues to rise in both developed and developing countries, causing the death of 1.5 million people every year. The use of technology (e.g. smartphone application-App) in the health field has progressively increased as it has been proved to be effective in helping individuals manage their long-term diseases. Therefore, it has the potential to reduce the use of health service and its related costs. The objective of this study is to evaluate the impact of using a digital platform called "TreC Diabete" embedded into a novel organisational asset targeting poorly controlled T2DM individuals in the Autonomous Province of Trento (PAT), Italy. METHODS: This trial was designed as a multi-centre, open-label, randomised, superiority study with two parallel groups and a 1:1 allocation ratio. Individuals regularly attending outpatient diabetes clinics, providing informed consent, are randomised to be prescribed TreC Diabete platform as part of their personalised care plan. Healthcare staff members will remotely assess the data shared by the participants through the App by using a dedicated online medical dashboard. The primary end-point is the evaluation of the Hb1Ac level at 12-month post-randomisation. Data will be analysed on an intention-to-treat (ITT) basis. DISCUSSION: This trial is the first conducted in the PAT area for the use of an App specifically designed for individuals with poorly controlled T2DM. If the effects of introducing this specific App within a new organisational asset are positive, the digital platform will represent a possible way for people diagnosed with T2DM to better manage their health in the future. Results will be disseminated through conferences and peer-reviewed journals once the study is completed. TRIAL REGISTRATION: ClinicalTrials.gov NCT05629221. Registered on November 29, 2022, prior start of inclusion.

Supporting patients and clinicians during the breast cancer care path with AI: The Arianna solution.

The onset of cancer disease is a traumatic experience for both patients and their families that suddenly change the patient's life and is accompanied by important physical, emotional, and psycho-social problems. The complexity of this scenario has been exacerbated by the COVID-19 pandemic which dramatically affected the continuity of the provision of optimal care to chronic patients. Telemedicine can support the management of oncology care paths by furnishing a suite of effective and efficient tools to monitor the therapies of cancer patients. In particular, this is a suitable setting for therapies that are administered at home. In this paper, we present an AI-based system, called Arianna, designed and implemented to support and monitor patients treated by the professionals belonging to the Breast Cancer Unit Network (BCU-Net) along the entire clinical path of breast cancer treatment. We describe in this work the three modules composing the Arianna system (the tools for patients and clinicians, and the symbolic AI-based module). The system has been validated in a qualitative way and we demonstrated how the Arianna solution reached a high level of acceptability by all types of end-users by making it suitable for a concrete integration into the daily practice of the BCU-Net.

Syndromic and Non-Syndromic Patients with Repaired Tetralogy of Fallot: Does It Affect the Long-Term Outcome?

BACKGROUND: The impact of genetic syndromes on cardiac magnetic resonance imaging (cMRI) parameters, particularly on right and/or left ventricular dysfunction, associated with clinical parameters following the repair of Tetralogy of Fallot (rToF) is not well known. Therefore, this study aimed to assess the differences in clinical, surgical, and cMRI data in syndromic and non-syndromic rToF patients. METHODS: All syndromic rToF patients undergoing a cMRI without general anesthesia between 2010 and 2020 who were able to match with non-syndromic ones for birth date, sex, type of surgery, timing of cMRI, and BSA were selected. Demographic, clinical, surgical, MRI, ECG, and Holter ECG data were collected. RESULTS: A total of one hundred and eight rToF patients equally subdivided into syndromic and non-syndromic, aged 18.7 ± 7.3 years, were studied. Del22q11.2 and Down syndrome (DS) were the most frequent syndromes (42.6% and 31.5%, respectively). Regarding the cMRI parameters considered, left ventricular (LV) dysfunction (LVEF < 50%) was more frequently found in syndromic patients (p = 0.040). In addition, they were older at repair (p = 0.002) but underwent earlier pulmonary valve replacement (PVR) (15.9 ± 5.6 vs. 19.5 ± 6.0 years, p = 0.049). On multivariate Cox regression analysis, adjusted for age at first repair, LV dysfunction remained significantly more associated with DS than del22q11.2 and non-syndromic patients (HR of 5.245; 95% CI 1.709-16.100, p = 0.004). There were only four episodes of non-sustained ventricular tachycardia in our cohort. CONCLUSIONS: Among the cMRI parameters commonly taken into consideration in rToF patients, LV dysfunction seemed to be the only one affected by the presence of a genetic syndrome. The percentage of patients performing PVR appears to be similar in both populations, although syndromic patients were older at repair and younger at PVR. Finally, the number of arrhythmic events in rToF patients seems to be low and unaffected by chromosomal abnormalities.

The Effects of Physical Inactivity and Exercise at Home in Young Patients with Congenital Heart Disease during the COVID-19 Pandemic.

Background: The COVID-19 pandemic had a significant impact on the population's ability to be physically active. Purpose: Evaluate the effect of the COVID-19 mitigation measures on exercise tolerance in patients with congenital heart disease (CHD). Materials and methods: All subjects (880, 6-18 years old) who performed a stress test at our hospital from October 2020 to February 2021 and had a similar test one year earlier were enrolled. A questionnaire on the degree of physical activity carried out in 2020 concerning the period prior to the pandemic was compiled. Exercise tolerance and the main anthropometric parameters between the first and second tests were compared. Results: 110 subjects (11.9 ± 4.1 years) were included in the study. The percentage of patients engaged in regular physical activity (RPA) decreased significantly during the pandemic (p < 0.001), and BMI increased significantly (p < 0.001), except among the subjects who began RPA during the lockdown, whereas test duration did not decrease significantly overall but increased in this last subgroup (p < 0.05) Conclusions: The COVID-19 lockdown led to a less active lifestyle with a significant increase in BMI in our group of CHD. These data could have negative effects on the risk profile of this population. RPA practiced at home seems to be effective in counteracting such effects.

Revised recommendations of the Italian Society of Pediatrics about the general management of Kawasaki disease.

Aim of these revised recommendations for the general management of Kawasaki disease is to encourage its prompter recognition and warrant the most appropriate therapy, based on ascertained scientific data, raising awareness of the complications related to misdiagnosis or delayed treatment. A set of 20 synthetic operative statements is herein provided, including the definition of Kawasaki disease, its protean presentations, clinical course and seminal treatment modalities of all disease phases. The application of these recommendations should improve prognosis of Kawasaki disease and prevent the progression to permanent vascular abnormalities, thereby diminishing morbidity and mortality.

Anomalous aortic origin of the pulmonary arteries: Case series and literature review.

Anomalous origin of the pulmonary arteries from the ascending aorta is a rare, but severe clinical entity necessitating a scrupulous evaluation. Either the right or the left pulmonary arteries can arise directly from the ascending aorta while the other pulmonary artery retains its origin from the right ventricular outflow tract. Such a finding can be isolated or can coexist with several congenital heart lesions. Direct intrapericardial aortic origin, however, must be distinguished with origin through a persistently patent arterial duct. In the current era, clinical manifestations usually become evident in the newborn rather than during infancy, as used to be the case. They include respiratory distress or congestive heart failure due to increased pulmonary flow and poor feeding. The rate of survival has now increased due to early diagnosis and prompt surgical repair, should now be expected to be at least 95%. We have treated four neonates with this lesion over the past 7 years, all of whom survived surgical repair. Right ventricular systolic pressure was significantly decreased at follow-up. Our choice of treatment was to translocate the anomalous pulmonary artery in end-to-side fashion to the pulmonary trunk. Our aim in this report is to update an Italian experience in the diagnosis and treatment of anomalous direct origin of one pulmonary artery from the aorta, adding considerations on the lessons learned from our most recent review of the salient literature.

Kawasaki disease: guidelines of Italian Society of Pediatrics, part II - treatment of resistant forms and cardiovascular complications, follow-up, lifestyle and prevention of cardiovascular risks.

This second part of practical Guidelines related to Kawasaki disease (KD) has the goal of contributing to prompt diagnosis and most appropriate treatment of KD resistant forms and cardiovascular complications, including non-pharmacologic treatments, follow-up, lifestyle and prevention of cardiovascular risks in the long-term through a set of 17 recommendations.Guidelines, however, should not be considered a norm that limits the treatment options of pediatricians and practitioners, as treatment modalities other than those recommended may be required as a result of peculiar medical circumstances, patient's condition, and disease severity or individual complications.

Kawasaki disease: guidelines of the Italian Society of Pediatrics, part I - definition, epidemiology, etiopathogenesis, clinical expression and management of the acute phase.

The primary purpose of these practical guidelines related to Kawasaki disease (KD) is to contribute to prompt diagnosis and appropriate treatment on the basis of different specialists' contributions in the field. A set of 40 recommendations is provided, divided in two parts: the first describes the definition of KD, its epidemiology, etiopathogenetic hints, presentation, clinical course and general management, including treatment of the acute phase, through specific 23 recommendations.Their application is aimed at improving the rate of treatment with intravenous immunoglobulin and the overall potential development of coronary artery abnormalities in KD. Guidelines, however, should not be considered a norm that limits treatment options of pediatricians and practitioners, as treatment modalities other than those recommended may be required as a result of peculiar medical circumstances, patient's condition, and disease severity or complications.

Atrial flow regulator for failing Fontan circulation: an initial European experience.

Transcatheter creation or enlargement of an atrial septal defect has been used to promote adequate blood flow and mixing in some forms of congenital heart defects or as a relief valve in right or left atrial hypertension, resulting in better cardiac output and/or systemic saturation. We report a case of a 4-year-old male affected by complex congenital heart disease who was admitted for management of severe cyanosis following a staged pericardial fenestrated Fontan procedure. Transoesophageal echocardiogram showed a wide fenestration of 9 mm in size with a severely dilated pericardial Fontan system. To avoid a new surgical procedure and as part of a compassionate use programme, we decided to implant an atrial flow regulator device (4 mm in diameter) with percutaneous approach with the goal of reducing the right-to-left shunt and increasing the pulmonary flow. Preprocedural oxygen saturation was 75%, whereas after 2 months of follow-up, we observed a progressive increase of up to 95% with significant reduction in the pericardial Fontan system dimensions at echocardiography.

Multicentre comparison Of shock efficacy using single-vs. Dual-coil lead systems and Anodal vs. cathodaL polarITY defibrillation in patients undergoing transvenous cardioverter-defibrillator implantation. The MODALITY study.

PURPOSE: An optimal active-can lead configuration during implantable cardioverter defibrillator (ICD) placement is important to obtain an adequate defibrillation safety margin. The purpose of this multicenter study was to evaluate the rate of the first shock success at defibrillation testing according to the type of lead implant (single vs. dual coil) and shock polarity (cathodal and anodal) in a large series of consecutive patients who received transvenous ICDs. METHODS: This was a multicenter study enrolling 469 consecutive patients. Single- versus dual-coil leads and cathodal versus anodal polarity were evaluated at defibrillation testing. In all cases, the value of the energy for the first shock was set to 20 J less than the maximum energy deliverable from the device. RESULTS: A total of 469 patients underwent defibrillation testing: 158 (34 %) had dual-coil and 311 (66 %) had single-coil lead systems configuration, 254 (54 %) received anodal shock and 215 (46 %) received cathodal shock. In 35 (7.4 %) patients, the shock was unsuccessful. No significant differences in the outcome of defibrillation testing using single- versus dual-coil lead were observed but the multivariate analysis showed an increased risk of shock failure using cathodal shock polarity (OR 2.37, 95 % CI 1.12-5.03). CONCLUSIONS: Both single- and dual-coil transvenous ICD lead systems were associated with high rates of successful ICD implantation, and we found no significant differences in ventricular arrhythmias interruption between the two ICD lead systems configuration. Instead, anodal defibrillation was more likely to be successful than cathodal defibrillation.

Adolescent Kawasaki disease: usefulness of 64-slice CT coronary angiography for follow-up investigation.

BACKGROUND: Kawasaki disease (KD) is a systemic vasculitis that mainly affects coronary arteries in children, and requires regular follow-up from the time of diagnosis. OBJECTIVE: To evaluate the feasibility of 64-slice CT angiography (CTA) for follow-up of patients with KD using previously performed invasive catheter coronary angiography (CCA) as reference standard. MATERIALS AND METHODS: The study group comprised 12 patients (age 17.6 ± 2.9 years, mean ± SD) with a diagnosis of KD and a previously performed CCA (interval, 32.6 ± 13.5 months) who underwent 64-slice cardiac CTA. The quality of the images for establishing the presence of coronary abnormalities was determined by two observers. The CTA findings were compared with those from the prior CCA. RESULTS: Adequate image quality was obtained in all patients. Mean effective dose for CTA was 6.56 ± 0.95 mSv. CTA allowed accurate identification, characterization and measurement of all coronary aneurysms (n = 32), stenoses (n = 3) and occlusions (n = 9) previously demonstrated by CCA. One patient with disease progression went on to have percutaneous coronary intervention. CONCLUSION: Coronary lesions were reliably evaluated by 64-slice CTA in the follow-up of compliant patients with KD, reducing the need for repeated diagnostic invasive CCA. Hence, in an adequately selected patient population, the role of CCA could be limited almost only to therapeutic procedures.

Multiplex ligation-dependent probe amplification analysis of GATA4 gene copy number variations in patients with isolated congenital heart disease.

GATA4 mutations are found in patients with different isolated congenital heart defects (CHDs), mostly cardiac septal defects and tetralogy of Fallot. In addition, GATA4 is supposed to be the responsible gene for the CHDs in the chromosomal 8p23 deletion syndrome, which is recognized as a malformation syndrome with clinical symptoms of facial anomalies, microcephaly, mental retardation, and congenital heart defects. Thus far, no study has been carried out to investigate the role of GATA4 copy number variations (CNVs) in non-syndromic CHDs. To explore the possible occurrence of GATA4 gene CNVs in isolated CHDs, we analyzed by multiplex ligation-dependent probe amplification (MLPA) a cohort of 161 non-syndromic patients with cardiac anomalies previously associated with GATA4 gene mutations. The patients were mutation-negative for GATA4, NKX2.5, and FOG2 genes after screening with denaturing high performance liquid chromatography. MLPA analysis revealed that normalized MLPA signals were all found within the normal range values for all exons in all patients, excluding a major contribution of GATA4 gene CNVs in CHD pathogenesis.

Ultrasound tissue characterization of the myocardium in patients after Kawasaki disease.

We sought to determine if changes in myocardial physical properties, detected by ultrasound tissue characterization (UTC), are present in asymptomatic children years after an acute episode of Kawasaki disease (KD) and if such changes are related to coronary artery aneurysms (CAs). Myocardial UTC analysis was performed 4.8 + or - 3.4 years after acute KD in 22 patients, mean age 6.6 + or - 3.4 years, with or without CA, who had a normal ECG and normal left ventricular (LV) systolic and diastolic function by echocardiography. Twenty-two age-matched subjects were studied as controls. Cyclic variation of integrated backscatter (cvIBS) and calibrated integrated backscatter (cIBS) were assessed in 16 LV myocardial segments in each patient and control. We found large differences in the UTC data between patients and controls: cvIBS, 7.8 + or - 0.8 vs 8.9 + or - 0.6 dB; cIBS, 28.6 + or - 3.2 vs 25.2 + or - 1.0 dB (P\10-3 for both). The average values of cIBS and cvIBS did not differ significantly between KD patients with and patients without CA or stenosis. In conclusion, UTC analysis demonstrated significant differences in myocardial tissue properties between KD patients and controls, despite similar measures of LV function, independent of coronary artery abnormalities. UTC analysis might improve risk stratification for KD patients.

Aberrant left innominate artery from the left descending aorta in right aortic arch: echocardiographic diagnosis.

A right aortic arch with a left descending aorta and an aberrant left innominate artery is a rare but recognized vascular anomaly that can result in compression of the trachea and the esophagus. This vascular anomaly has been diagnosed using cardiac catheterization and angiography. Recently, computed tomography and magnetic resonance imaging have been used for noninvasive diagnosis. The aim of this report is to highlight the possibility of echocardiographic diagnosis.

Exclusion of Cx43 gene mutation as a major cause of criss-cross heart anomaly in man.

Criss-cross heart is a rare congenital cardiac defect characterized by crossing of the atrioventricular valves and of the inflow streams due to the twisting of the ventricles about their long axis. The aetiology of criss-cross heart has not been understood yet. Mice homozygous for Cx43 deficiency show a delay in normal looping of ascending limb of the heart tube, which temporarily retains a more symmetric middle position. Persistence of this condition results in a "criss-cross" configuration, with the atrioventricular cushions rotated 90°, a horizontal muscular ventricular septum, and a parallel course of the endocardial ridges of the outflow tract. We screened the entire coding region of the Cx43 gene in a group of well characterized patients with criss-cross heart, to evaluate whether Cx43 gene mutations cause criss-cross heart in humans. No pathogenic mutation was identified, suggesting that Cx43 mutations are not responsible for criss-cross heart in humans or are not a major cause for this defect.

New findings concerning cardiovascular manifestations emerging from long-term follow-up of 150 patients with the Williams-Beuren-Beuren syndrome.

AIMS: We investigated the prevalence, type, and course of congenital cardiac defects and systemic hypertension in our patients with Williams-Beuren-Beuren syndrome. METHODS AND RESULTS: We reviewed the clinical records of all patients with Williams-Beuren syndrome examined between 1981 and 2006. We identified 150 patients, aged from 7 months to 45 years, with a follow-up from 6 months to 25 years, the mean being 6.4 years. A cardiac anomaly was present in 113 of the 150 patients (75%). Defects were typical in over four-fifths of the group. We found supravalvar aortic stenosis in 73 of 113 patients (64.6%), isolated in 43. Pulmonary stenosis, isolated in 18 cases, was found in 51 of 113 (45.1%), while aortic coarctation and mitral valvar prolapse were each found in 7 (6.2%), 3 of the lesions is isolation. Atypical defects were found in 19 patients, tetralogy of Fallot in 2, atrial septal defects in 4, aortic and mitral valvar insufficiencies in 1 each, bicuspid aortic valves in 2, and ventricular septal defects in 9, 4 of the last being isolated. Systemic hypertension, observed in 33 patients (22%), was poorly controlled in 10. Diagnostic and/or interventional cardiac catheterization was undertaken in 24 patients, with 30 surgical procedures performed in 26 patients. Of the group, 3 patients died. CONCLUSION: Cardiac defects were present in three-quarters of our patients. Pulmonary arterial lesions generally improved, while supravalvar aortic stenosis often progressed. Atypical cardiac malformations, particularly ventricular septal defects, occurred frequently. Systemic hypertension was found in one-fifth, even in the absence of structural cardiac defects. The short-term mortality was low.

Impact of three-dimensional echocardiography in complex congenital heart defect cases: the surgical view.

Other authors have demonstrated the ability of three-dimensional (3D) echocardiography to produce "en face" views of anomalies such as atrioventricular valve disease and atrial and ventricular septal defects. Few data exist about the usefulness of 3D images for more complex congenital heart defects and the surgical impact of this relatively new technology. This study, covering a period of 8 months and including 43 young patients affected by complex congenital heart defects, demonstrated that the routine use of 3D echocardiography is feasible and valuable for some types of cardiac defects. In fact, 3D images have provided more detailed anatomic definition of interrelations between structures in about one-third (15/43) of our cases, yielding new insight into the anatomy analogous to what can be derived from examining a heart specimen. Our surgeons found the 3D images particularly helpful for providing a realistic and almost specimen-like preview of the surgical anatomy that facilitates planning of the surgical program.

Congenital heart defects in patients with oculo-auriculo-vertebral spectrum (Goldenhar syndrome).

The oculo-auriculo-vertebral spectrum (OAVS) is a non-random association of microtia, hemifacial microsomia with mandibular hypoplasia, ocular epibulbar dermoid, and cervical vertebral malformations. Congenital heart defects (CHDs) have been reported in 5-58% of the patients. We analyze the frequency and anatomic features of CHD in a series of 87 patients with OAVS examined between January 1990 and February 2007 with normal chromosomes, ranging in age between 0.1 and 16.8 years. A twin pregnancy occurred in eight cases (dizygotic in six cases and monozygotic in two). CHDs were diagnosed in 28/87 (32%) patients, and classified into categories of postulated developmental mechanisms including 9 (32%) atrial and ventricular septal defects, 11 (39%) conotruncal defects, 4 (14%) targeted growth defects, two (7%) with situs and looping defects, one (4%) with a left-sided obstructive lesion and one (4%) with patent ductus arteriosus. As noted in other series, the most common individual CHDs were ventricular septal defect (six patients) and tetralogy of Fallot (TOF) (classic or with pulmonary atresia) (six patients). Comparing the frequencies of CHDs groups observed in the OAVS patients with the findings of the Emilia-Romagna Registry which ascertained CHDs prevalence in the general population, conotruncal defects, targeted growth defects, and heterotaxia were significantly associated with OAVS.