Hereditary Thoracic Aortic Diseases.

Advances in both imaging techniques and genetics have led to the recognition of a wide variety of aortic anomalies that can be grouped under the term 'hereditary thoracic aortic diseases'. The present review aims to summarize this very heterogeneous population's clinical, genetic, and imaging characteristics and to discuss the implications of the diagnosis for clinical counselling (on sports activity or pregnancy), medical therapies and surgical management.

Bicuspid Aortic Valve in Children and Adolescents: A Comprehensive Review.

Bicuspid aortic valve (BAV) is the most common congenital heart defect. Prevalence of isolated BAV in the general pediatric population is about 0.8%, but it has been reported to be as high as 85% in patients with aortic coarctation. A genetic basis has been recognized, with great heterogeneity. Standard BAV terminology, recently proposed on the basis of morpho-functional assessment by transthoracic echocardiography, may be applied also to the pediatric population. Apart from neonatal stenotic BAV, progression of valve dysfunction and/or of the associated aortic dilation seems to be slow during pediatric age and complications are reported to be much rarer in comparison with adults. When required, because of severe BAV dysfunction, surgery is most often the therapeutic choice; however, the ideal initial approach to treat severe aortic stenosis in children or adolescents is not completely defined yet, and a percutaneous approach may be considered in selected cases as a palliative option in order to postpone surgery. A comprehensive and tailored evaluation is needed to define the right intervals for cardiologic evaluation, indications for sport activity and the right timing for intervention.

Clinical Profiles and CMR Findings of Young Adults and Pediatrics with Acute Myocarditis Following mRNA COVID-19 Vaccination: A Case Series.

Messenger RNA (mRNA) coronavirus disease of 2019 (COVID-19) vaccines have been recently associated with acute myocarditis, predominantly in healthy young males. Out of 231,989 vaccines administrated in our region (Marche, Italy), we report a case series of six healthy patients (four males and two females, 16.5 years old (Q1, Q3: 15, 18)) that experienced mRNA-COVID-19-vaccines side effects. All patients were hospitalized due to fever and troponins elevation following the second dose of an mRNA-based COVID-19 vaccine. Cardiovascular magnetic resonance (CMR) was performed 72-96 h after vaccination. All patients were treated with colchicine and ibuprofen. Myocarditis was prevalent in males. It was characterized by myocardial edema and late gadolinium enhancement (LGE) in the lateral wall of the left ventricle (LV). One patient showed sole right ventricular involvement, while the females presented with myopericarditis (myocarditis + pericardial effusion). All patients in our series had preserved LV ejection fraction and remained clinically stable during a relatively short inpatient hospital stay. One case presented with atrial tachycardia. At the follow-up, no significant CMR findings were documented after a three-month medical treatment. According to other recently published case series, our report suggests a possible association between acute myocarditis and myopericarditis with mRNA COVID-19 vaccination in healthy young adults and pediatric patients. Not only males are involved, while some arrhythmic manifestations are possible, such as atrial tachycardia. Conversely, we here highlight the benign nature of such complications and the absence of CMR findings after a three-month medical treatment with colchicine and ibuprofen.

Echocardiographic changes and quality of life after surgical unroofing of myocardial bridges.

OBJECTIVE: To examine the echocardiographic changes and quality of life (QoL) after surgical unroofing of myocardial bridges (MBs) involving the left anterior descending (LAD) coronary artery compared with optimal medical therapy (OMT). METHODS: Twenty-two patients (median age, 24 years; interquartile range, 16-40 years) with MBs of the LAD artery and exertional angina from 2018 to 2019 were retrospectively analyzed. Twelve patients underwent OMT and 10 underwent surgery. Both groups underwent clinical and echocardiographic examinations during hospitalization and follow-up (mean, 1.0 ± 0.8 years). QoL was assessed with the Seattle Angina Questionnaire, short version (SAQ-7). RESULTS: Surgery resulted in significantly better QoL than OMT, with a significant improvement in left ventricular global longitudinal strain (GLS) [mean (standard error): 19% (0.19) to 22% (0.34) and 19% (0.15) to 20% (0.24), respectively; delta-change (delta-GLS) of 0.15 vs. 0.067]. In the univariate and multivariable analyses, delta-GLS was positively correlated with the SAQ-7 score and MB length (rho = 0.64 and 0.71, respectively), with a significant interaction between MB length and surgical treatment (beta coefficient, 1.95; 95% confidence interval, 0.14-3.77). CONCLUSIONS: MB unroofing surgery provided benefits in terms of QoL and left ventricular GLS improvement compared with 1 year of OMT.

Echocardiographic screening for the anomalous aortic origin of coronary arteries.

AIMS: We sought to determine the diagnostic performance, clinical profiles and outcomes of anomalous aortic origin of coronary arteries (AAOCA) using a standardised echocardiographic approach in young adults and athletes. METHODS: In 2015-2019, we screened 5998 outpatients (age 16 years (Q1-Q3: 11, 36)), referred for routine echocardiography, using four specific echocardiographic windows: parasternal short/long axis and apical 4/5-chambers view. Coronary CT confirmed AAOCA. For the performance analysis, 300 coronary-CT scans were available; two independent and double-blinded physicians retrospectively reviewed echocardiographic images. RESULTS: A total of 47 AAOCA was diagnosed; the overall prevalence was 0.0078%. Over 5 years, we found a significant increment of AAOCA diagnostic rate (P for trend=0.002). Syncope (n=17/47) and palpitations (n=6/47) were prevalent symptoms. All patients suspended sports activity at the diagnosis. Twenty-seven patients underwent surgery, while 20 underwent a conservative medical treatment. All patients are alive at a median follow-up of 3±1.6 years; only surgical repairs restarted their activity. Our method showed better sensitivity than traditional short-axis evaluation: 93% vs 83%, p=0.0030 (AUC 0.96 (95% CI 0.92, 0.99) and AUC 0.89 (95% CI 0.83, 0.95), respectively), with a good interobserver agreement (95%, k=0.83, p<0.001). CONCLUSIONS: The application of a standardised echocardiographic approach for AAOCA detection led to a significantly increased rate of identified anomalies. This approach demonstrated higher sensitivity than the traditional echocardiographic assessment. Implementing this protocol in clinical practice may help improve the AAOCA diagnosis in young adults and athletes. TRIAL REGISTRATION NUMBER: NCT04224090.

T-Wave Alternans in Nonpathological Preterm Infants.

BACKGROUND: Sudden infant death syndrome is more frequent in preterm infants (PTI) than term infants and may be due to cardiac repolarization instability, which may manifest as T-wave alternans (TWA) on the electrocardiogram (ECG). Therefore, the aim of the present work was to analyze TWA in nonpathological PTI and to open an issue on its physiological interpretation. METHODS: Clinical population consisted of ten nonpathological PTI (gestational age ranging from 29 37 to 34 27  weeks; birth weight ranging from 0.84 to 2.10 kg) from whom ECG recordings were obtained ("Preterm infant cardio-respiratory signals database" by Physionet). TWA was identified through the heart-rate adapting match filter method and characterized in terms of mean amplitude values (TWAA). TWA correlation with several other clinical and ECG features, among which gestational age-birth weight ratio, RR interval, heart-rate variability, and QT interval, was also performed. RESULTS: TWA was variable among infants (TWAA = 26 ± 11 µV). Significant correlations were found between TWAA versus birth weight (ρ = -0.72, p = .02), TWAA versus gestational age-birth weight ratio (ρ = 0.76, p = .02) and TWAA versus heart-rate variability (ρ = -0.71, p = .02). CONCLUSIONS: Our preliminary retrospective study suggests that nonpathological PTI show TWA of few tens of µV, the interpretation of which is still an open issue but could indicate a condition of cardiac risk possibly related to the low development status of the infant. Further investigations are needed to solve this issue.

A case of co-existence of muscle bridge and anomalous origin of coronary artery.

INTRODUCTION: Coronary artery anomalies result from disturbances which may occur to the fetus in the third week of development. These disturbances may lead to anatomical variations which may affect the origin, trajectory, and termination of these arteries, or alterations in their intrinsic anatomy. PRESENTATION OF CASE: We report an unusual case in which both anomalous origin of the right coronary artery and myocardial bridge on left anterior descending artery were detected concurrently. DISCUSSION: An investigation for myocardial bridge should be performed in all congenital coronary artery anomalies. CONCLUSION: Invasive testing could be considered in patients with myocardial and equivocal non-invasive functional testing, in order to obtain better risk stratification and treatment.

Surgical Treatment of Idiopathic Enlargement of the Right Atrium.

Idiopathic enlargement of the right atrium (IERA) is a very rare abnormality. Approximately one-half (48%) of the patients with a congenital enlargement of the right atrium have no symptoms. When they occur, symptoms include shortness of breath (28% of cases), palpitations (17%), arrhythmias (12%), and in rare cases, right heart failure and extreme tiredness. We report one such case of a young man with a disproportionally enlarged right atrium. The basal transthoracic echocardiogram demonstrated a huge right atrium with a thick smoke pattern and mild tricuspid regurgitation in the absence of congenital heart disease. Magnetic resonance imaging confirmed the right atriomegaly, with initial compression of the right ventricle, and excluded congenital heart defects or absence of pericardium. The patient underwent surgical resection of the right atrial wall and the atriotomy was closed, leaving an atrial chamber of normal consistency and size. The resected atrium had normal and homogeneous wall thickness without significant fibrosis which confirmed the diagnosis of an idiopathic enlargement of the right atrium.

Evolution of a rare ECG pattern in an aggressive case of neonatal tuberous sclerosis complex.

INTRODUCTION: Rhabdomyomas are the most frequent cardiac tumors in children. Furthermore, they are often associated to tuberous sclerosis complex, an autosomal dominant neurocutaneous disorder characterized by tumor-like malformations that involve many organ systems. PRESENTATION OF THE CASE: We describe a rare ECG pattern in a severe case of neonatal tuberous sclerosis complex. DISCUSSION: In the presence of significant rhabdomyomatosis related to tuberous sclerosis, multiple clusters of rhabdomyoma-like cells can infiltrate the myocardium, with increased fibrosis areas. CONCLUSION: Considering the fact that rhabdomyomas often show spontaneous regression, close follow-up is sufficient in hemodynamically stable cases. Destruction of the conduction system, with arrhythmias as consequence, can be the presenting feature of diffuse rhabdomyomatosis.

Differential regulation of vascular smooth muscle and endothelial cell proliferation in vitro and in vivo by cAMP/PKA-activated p85alphaPI3K.

cAMP inhibits proliferation in most cell types, triggering different and sometimes opposing molecular pathways. p85alpha (phosphatidylinositol 3-kinase regulatory subunit) is phosphorylated by cAMP/PKA in certain cell lineages, but its effects on vascular smooth muscle cells (VSMCs) and endothelial cells (ECs) are unknown. In the present study, we evaluated 1) the role of p85alpha in the integration of cAMP/PKA-dependent signaling on the regulation of VSMC and EC growth in vitro; and 2) the effects of PKA-modified p85alpha on neointimal hyperplasia and endothelial healing after balloon injury in vivo. Plasmid constructs carrying wild-type and PKA-modified p85alpha were employed in VSMCs and ECs in vitro and after balloon injury in rat carotid arteries in vivo. cAMP/PKA reduced VSMC proliferation through p85alpha phosphorylation. Transfected PKA-activated p85alpha binds p21ras, reducing ERK1/2 activation and VSMC proliferation in vitro. In contrast, EC proliferation inhibition by cAMP is independent from PKA modification of p85alpha and ERK1/2 inhibition; indeed, PKA-activated p85alpha did not inhibit per se ERK1/2 activation and proliferation in ECs in vitro. Interestingly, cAMP reduced both VSMC and EC apoptotic death through p85alpha phosphorylation. Accordingly, PKA-activated p85alpha triggered Akt activation, reducing both VSMC and EC apoptosis in vitro. Finally, compared with controls, vascular gene transfer of PKA-activated p85alpha significantly reduced neointimal formation after balloon injury in rats, without inhibiting endothelial regeneration of the injured arterial segment. In conclusions, PKA-activated p85alpha integrates cAMP/PKA signaling differently in VSMCs and ECs. By reducing neointimal hyperplasia without inhibiting endothelial regeneration, it exerts a protective effect against restenosis after balloon injury.