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Myocarditis is an inflammatory disease of the myocardium that is troublesome to diagnose and manage, especially in children. Since the introduction of endomyocardial biopsy (EMB), new diagnostic tools have provided useful data. Especially when enhanced with immunohistochemistry and polymerase chain reaction (PCR) studies, EMB remains the gold standard for the diagnosis. Notably, cardiac magnetic resonance (MRI) is a non-invasive tool that can confirm the diagnosis and has a particular usefulness during the follow-up. The causes of myocarditis are heterogeneous (mostly viral in children). The course and outcome of the illness in the pediatric population represent a complex interaction between etiologic agents and the immune system, which is still not fully understood. The clinical presentation and course of myocarditis vary widely from paucisymptomatic illness to acute heart failure refractory to therapy, arrhythmias, angina-like presentation and sudden cardiac death. In this setting, cardiac biomarkers (i.e., troponins and BNP), although unspecific, can be used to support the diagnosis. Finally, the efficacy of therapeutic strategies is controversial and not confirmed by clinical trials. In this review, we summarized the milestones in diagnosis and provided an overview of the therapeutic options for myocarditis in children.

Background: Several studies have shown that adult patients with Hypoplastic Left Heart Syndrome (HLHS) and Fontan circulation have a reduced exercise tolerance that affects daily life. Recent studies have investigated the effects of aerobic exercise training in patients with univentricular heart; however, this research topic is still poorly studied. The aim of this study was to evaluate the effects of an aerobic exercise training program on cardiopulmonary exercise testing parameters and cardiac biomarkers in patients with HLHS. Methods: We enrolled 12 patients with a mean age of 24 ± 2.5 years (range 22–27 years), 50% male, with HLHS at Bambino Gesù Children’s Hospital IRCCS. All patients underwent a cardiopulmonary test and blood sampling before (T0) and after (T1) a 4-week aerobic exercise program. Cardiac biomarkers hs-cTnT, NT-proBNP, ST2, GDF-15 were studied. Results: Data analysis demonstrated an increase in cardiorespiratory performance after 4 weeks of aerobic exercise training activity. In particular, the data showed a significant improvement in test duration (p < 0.05), heart rate at rest (p < 0.05), heart rate recovery 1 min (p < 0.05), VO2 max (p < 0.01) and oxygen uptake efficiency slope (p < 0.05). At the same time, the data showed a significant reduction in NT-proBNP and ST2 values (p < 0.01 and p < 0.05, respectively) and a significant increase in GDF-15 (p < 0.01). No significant changes were found between the hs-cTnT values. Conclusions: Our study demonstrated the 4-week efficacy of an aerobic training program in improving cardiorespiratory performance and cardiac biomarker values in adult patients with HLHS and Fontan circulation. More studies with larger numbers of patients will be needed to confirm these data.

Background: The ongoing COVID-19 pandemic has infected more than 500 million people worldwide. Several measures have been taken to reduce the spread of the virus and the saturation of intensive care units: among them, a lockdown (LD) was declared in Italy on 9 March 2020. As a result, gyms, public parks, sports fields, outdoor play areas, schools, and multiple commercial activities have been closed. The consequences of physical inactivity can be dramatic in adult patients with congenital heart disease (ACHD), in which the benefit of regular exercise is well known. In this study, we investigated the effects of reduced physical activity during the COVID-19 pandemic on ACHD’s exercise capacity. Materials and Methods: Patients who performed exercise or cardiopulmonary exercise tests from October 2019 to February 2020 and one year after lockdown with the same protocol were retrospectively enrolled in our database. Inclusion criteria: ACHD patients aged ≥ 18 years old under regular follow-up. Exclusion criteria: significant clinical and/or therapeutic changes between the two tests; significant illness occurred between the two tests, including COVID-19 infection; interruption of one of the tests for reasons other than muscle exhaustion. Results: Thirty-eight patients (55.6% males) met the inclusion criteria. Before the lockdown, 17 patients (group A) were engaged in regular physical activity (RPA), and 20 patients (group B) had a sedentary lifestyle. After LD, in group A, (a) the weekly amount of physical activity reduced with statistical significance from 115 ± 46 min/week to 91 ± 64 min/week (−21%, p = 0.03); (b) the BMI did not change; (c) the duration of exercise test and VO2 max at cardiopulmonary exercise test showed a significant reduction after the LD. In group B, BMI and exercise parameters did not show any difference. Conclusions: The COVID-19 pandemic dramatically changed the habits of ACHD patients, significantly reducing their possibility to exercise. Our data analyzed in this extraordinary situation again demonstrated that physical inactivity in ACHD worsens functional capacity, as highlighted by VO2 max. Regular exercise should be encouraged in ACHD patients to preserve functional capacity.

The aim of this study is to identify echocardiographic predictors of transient left ventricle dysfunction after pulmonary valve balloon dilatation (PVBD), in neonates with pulmonary valve stenosis (PVS) and atresia with intact septum (PAIVS) at birth. The study includes patients admitted at the Bambino Gesù Children Hospital from January 2012 to January 2017. Clinical, echocardiographic and cardiac catheterization data before and after PVBD were retrospectively analyzed. Twenty-nine infants were included in the study (21 male and eight female). The median age was 5.8 ± 7.1 days. Eight patients developed transient LV dysfunction (three PAIVS and five PVS) and comparing data before and after the procedure, there was no difference in right ventricle geometrical and functional parameters except for evidence of at least moderate pulmonary valve regurgitation after PVBD. Moderate to severe degree pulmonary valve regurgitation was significant associated to LV dysfunction ( < 0.05) in PVS and PAIVS patients.

Patients with repaired Tetralogy of Fallot (rToF) typically report having preserved subjective exercise tolerance. Chronic pulmonary regurgitation (PR) with varying degrees of right ventricular (RV) dilation as assessed by cardiac magnetic resonance imaging (MRI) is prevalent in rToF and may contribute to clinical compromise. Cardiopulmonary exercise testing (CPET) provides an objective assessment of functional capacity, and the International Physical Activity Questionnaire (IPAQ) can provide additional data on physical activity (PA) achieved. Our aim was to assess the association between CPET values, IPAQ measures, and MRI parameters. All rToF patients who had both an MRI and CPET performed within one year between March 2019 and June 2021 were selected. Clinical data were extracted from electronic records (including demographic, surgical history, New York Heart Association (NYHA) functional class, QRS duration, arrhythmia, MRI parameters, and CPET data). PA level, based on the IPAQ, was assessed at the time of CPET. Eighty-four patients (22.8 ± 8.4 years) showed a reduction in exercise capacity (median peak VO2 30 mL/kg/min (range 25–33); median percent predicted peak VO2 68% (range 61–78)). Peak VO2, correlated with biventricular stroke volumes (RVSV: β = 6.11 (95%CI, 2.38 to 9.85), p = 0.002; LVSV: β = 15.69 (95% CI 10.16 to 21.21), p < 0.0001) and LVEDVi (β = 8.74 (95%CI, 0.66 to 16.83), p = 0.04) on multivariate analysis adjusted for age, gender, and PA level. Other parameters which correlated with stroke volumes included oxygen uptake efficiency slope (OUES) (RVSV: β = 6.88 (95%CI, 1.93 to 11.84), p = 0.008; LVSV: β = 17.86 (95% CI 10.31 to 25.42), p < 0.0001) and peak O2 pulse (RVSV: β = 0.03 (95%CI, 0.01 to 0.05), p = 0.007; LVSV: β = 0.08 (95% CI 0.05 to 0.11), p < 0.0001). On multivariate analysis adjusted for age and gender, PA level correlated significantly with peak VO2/kg (β = 0.02, 95% CI 0.003 to 0.04; p = 0.019). We observed a reduction in objective exercise tolerance in rToF patients. Biventricular stroke volumes and LVEDVi were associated with peak VO2 irrespective of RV size. OUES and peak O2 pulse were also associated with biventricular stroke volumes. While PA level was associated with peak VO2, the incremental value of this parameter should be the focus of future studies.

Background: Adults with congenital heart disease (ACHD) are a growing population needing ongoing care. The aim of this study was to investigate if a dedicated ACHD team impacted the timing and indication of invasive cardiology procedures in these patients at our hospital. Methods: Our retrospective single-center study enrolled adult patients with moderate or complex congenital heart disease and with at least one cardiac catheterization between January 2010 and December 2021. According to the period, procedures were labeled as group A (2010 to 2015) or group B (2016 to 2021) and further divided into diagnostic (DCC) and interventional cardiac catheterizations (ICC). Results: 594 patients were eligible for the study. Both DCC (p < 0.05) and ICC increased between groups A and B (p < 0.05). In group B: Fontan patients accounted for the majority of DCC (p < 0.001), while DCC decreased in arterial switch repair (p < 0.001). In Fontan patients, conduit stenting was prevalent (p < 0.001), while fenestration closures dropped (p < 0.01). In patients with tetralogy of Fallot and native outflow tract, percutaneous pulmonary valve implantations (PPVI) increased, with a concurrent reduction in pulmonary valve replacements (p < 0.001 vs. surgical series). In right ventricular conduits, ICC increased (p < 0.01), mainly due to PPVI. Among Mustard/Senning patients, baffle stenting increased from Group A to Group B (p < 0.001). In patients with pulmonary atresia and biventricular repair, ICC often increased for pulmonary artery stenting. Conclusions: A dedicated working group could improve ACHD patients’ indications for interventional procedures, leading to tailored treatment, better risk stratification and optimizing time until heart transplantation.

We report on two patients with duplication of the subterminal region of chromosome 16p (dup16p) recognized by fluorescent in situ hybridization (FISH) telomere analysis, presenting with closely overlapping facial features and neurological impairment. Distinct facial anomalies included high forehead, sparse eyebrows, blepharophimosis, short nose, everted upper lip, high-arched palate, wide-spaced teeth, and cupped anteverted ears. Susceptibility to vascular anomalies, in particular pulmonary hypertension and portal cavernoma, was found in one patient. Subtelomeric analysis by FISH demonstrated a de novo duplication of the subtelomeric region of chromosome 16p and a deletion of the subtelomeric region of chromosome 4q in case 1, and duplication of the subtelomeric region of 16p and a deletion of the subtelomeric region of 21q, resulting from malsegregation of a balanced maternal traslocation t(16pter;21qter) in case 2. The extension of duplicated regions measured by array-comparative genome hybridization was about 12 Mb on 16p13.3p13.13 in case 1, and about 8.5 Mb on 16p13.3p13.2 in case 2. In conclusion, we reported a clinically recognizable disorder in two patients with dup16p. Pulmonary hypertension, vascular ring, and manifestations of vascular disruption, as terminal hypoplasia of hands and aplasia cutis, have been previously described in association with dup16p. Thus, susceptibility to pulmonary vascular disease and other vascular anomalies can be a feature of dup16p, suggesting that this subtelomeric region in some respect could be related to vascular anomalies.

Congenital heart disease represents the most common malformation diagnosed in newborns, and the majority, during their lifetime, will have to undergo medical surgery, causing body scars that could impact perceived physical appearance and, subsequentially, their quality of life. In this study, we investigated how anxiety and depression mediate the relationship between perceived physical appearance and quality of life in patients with congenital heart disease. Participants were 708 Italian patients (58.8% male, M age = 27.03, DS = 7.03. They completed self-report measures assessing perceived physical appearance, anxiety, depression, and quality of life. The results show that perceived physical appearance has a significant, negative, and total effect on quality of life, and even when anxiety and depression are included in the parallel mediation model, perceived physical appearance remains significant. These findings may be important to better understand the mechanism that underlie the relationship between negative self-perception and quality of life, considering the impact of anxiety and depression, particularly among female patients. These results could be used to improve patients’ quality of life and reduce anxiety and depression, enhancing awareness and acceptation of self-body.

Pericarditis with pericardial effusion in SARS CoV-2 infection is a well-known entity in adults. In children and adolescents, only a few cases have been reported. Here, we present here a case of a 15-year-old girl affected by Sotos syndrome with pre-tamponed pericardial effusion occurred during SARS-CoV-2 infection. A possible relation between SARS-CoV-2 pericarditis and genetic syndromes, as a major risk factor for the development of severe inflammation, has been speculated. We emphasize the importance of active surveillance by echocardiograms when SARS-CoV-2 infection occurs in combination with a genetic condition.