Kartagener's syndrome with congenital heart defect.

Introduction: Kartagener's syndrome is a rare subset of primary ciliary dyskinesia, a genetically heterogeneous disorder characterised by chronic sinusitis, bronchiectasis, and . To our knowledge, the association of this syndrome with coarctation of the aorta (CoAo) and pulmonary hypertension (PH) has not been previously reported.

Case Description: We report the case of a 17-year-old female patient with and CoAo surgically corrected at two months of age.

A backbone-based flow cytometry approach to decipher regulatory T cell trajectories in the human thymus.

Thymus-committed regulatory T cells (Tregs) are essential for immune homeostasis. Recent findings stress their heterogeneity, suggesting possible alternate routes for thymic Treg development with unique features in humans, namely the clear evidence of Treg commitment at the double-positive (DP) stage and the presence of a significant population of CD8 single-positive (SP) FOXP3 Tregs. Here, we present a dedicated analysis strategy to a spectral flow cytometry-based study of thymus from children and aged adults (≥ 74-years-old), to further elucidate Treg development and heterogeneity in the human thymus.

Thromboprophylaxis and adult congenital heart disease: The latest on indications, risk scoring and therapy.

Advances in medical care have significantly extended the lifespan of patients with congenital heart disease (CHD), allowing most to survive into adulthood. However, they continue to face significant cardiovascular morbidity, particularly atrial arrhythmias (AA), heart failure, and thromboembolic (TE) events. TE events in adult CHD patients arise from various factors, including AA, intracardiac repairs, cyanotic CHD, Fontan palliation, pregnancy, and mechanical heart valves (MHV).

Prenatal diagnosis of coarctation: Impact on early and late cardiovascular outcome.

Background: Prenatal diagnosis (PND) of aortic coarctation (AoCo) has been associated with a significant improvement in early results, but there is limited information on the long-term cardiovascular outcome.

Methods: We studied 103 patients with simple AoCo, operated in the neonatal period, with a median follow-up of 8,5 years (2 to 23,7 years), with 47% followed for over 10 years. PND was made in 35%.

Gene-Edited Human-Induced Pluripotent Stem Cell Lines to Elucidate Function throughout Cardiac Differentiation.

(1) Background: The contribution of gene-specific variants for congenital heart disease, one of the most common congenital disabilities, is still far from our complete understanding. Here, we applied a disease model using human-induced pluripotent stem cells (hiPSCs) to evaluate the function of DAND5 on human cardiomyocyte (CM) differentiation and proliferation. (2) Methods: Taking advantage of our patient-derived iPSC line, we used CRISPR-Cas9 gene-editing to generate a set of isogenic hiPSCs (-corrected and full-mutant).

Diastolic Function and Left Atrial Strain in Young Patients with History of Aortic Coarctation Repair.

Aortic coarctation (AoCo) leads to long-term sequelae that may impair heart function. Data regarding new echocardiographic function parameters such as atrial strain, in affected patients, are scarce. This study aims to describe these parameters in AoCo patients and define their association with severity measures.

Investigation of atrial mass by multi-imaging and biopsy.

The authors describe the case of a child with a history of relapsed acute lymphoblastic leukaemia with a giant intra-auricular lymphomatous mass, submitted to investigation by multiple imaging methods and biopsy.

Intracardiac versus extracardiac shunt in a young man with ischaemic stroke.

A 24-year-old man with a history of recent ischaemic stroke was diagnosed with patent foramen ovale (PFO) and referred for closure at our hospital. At admission, besides low peripheral oxygen saturation (88%), physical examination was otherwise normal. We performed intraprocedural transoesophageal echocardiogram that revealed no PFO, although agitated saline injection demonstrated bubbles lately on the left atrium.

Long-standing hypoxaemia in complex adult congenital heart disease: anatomical and functional interplay in an uncommon presentation.

We report a case of a 28-year-old man lost to follow-up with chronic hypoxaemia and a history of an uncorrected tricuspid hypoplasia, perimembranous ventricular septal defect (VSD) and pulmonary stenosis. Given this initial diagnosis, chronic hypoxaemia was deemed to result from right-to-left shunt through the VSD driven by elevated right ventricle pressures. However, the further investigation identified an inferior sinus venosus atrial septal defect, unveiling the true mechanism behind the clinical scenario.

Congenital long QT syndrome presenting as unexplained bradycardia.

Congenital long QT syndrome (LQTS) is a genetically autosomal heterogeneous disorder of the ion channels and causes about 10% of sudden death infant syndrome in newborns. Its estimated prevalence is approximately 1 in 2500, probably underestimated because of its clinical heterogenicity. Few cases of neonatal LQTS have been reported.

Azacitidine-induced massive pericardial effusion in a child with myelodysplastic syndrome.

Introduction: Pericardial effusions are rare yet potentially fatal conditions in children. Azacitidine is a DNA-hypomethylating agent used in the treatment of myelodysplastic syndrome. Although seldomly described in adults, no cases of azacitidine-induced pericardial effusion have been reported in children.

Spontaneous thrombosis of the arterial duct in a newborn with alloimmune thrombocytopaenia.

We present an uncommon challenging case of spontaneous thrombosis of the arterial duct and with alloimmune thrombocytopaenia in a full-term newborn who presented with respiratory distress, hypoglycaemia dispersed petechiae on the trunk, and significant haemorrhage of the umbilical venous catheter.

Coronary artery bypass grafting in a child with Kawasaki disease.

Kawasaki disease (KD) with cardiac involvement can result in the development of coronary aneurysm, stenosis or thrombosis with significant cardiovascular implications. We report the case of a 23-month-old male with a late diagnosis of KD, in whom intravenous immunoglobulin treatment was not feasible. The patient's course was assessed by routine echocardiography.

Evolution of acute myocarditis in a pediatric population: An MRI based study.

Background: Cardiac Magnetic Resonance (CMR) data regarding myocarditis presentation and disease course is still lacking in pediatric patients. We evaluate baseline CMR and evolution of functional and tissue abnormalities in children with acute myocarditis.

Methods: CMR was performed in 125 patients with clinical diagnosis of acute myocarditis.

The Influence of Atrial Strain on Functional Capacity in Patients with the Fontan Circulation.

Speckle-tracking echocardiography has been used to assess atrial function. This analysis is feasible in univentricular hearts. The aim of this study was to characterize the relationship between atrial strain and functional capacity in the Fontan circulation.

Ebstein's anomaly with 'reversible' functional pulmonary atresia.

We present the case of an infant with prenatal diagnosis, at 32 weeks gestation, of Ebstein's anomaly without anterograde flow from right ventricular to pulmonary atresia (PA)-functional PA with flow reversal in the ductus arteriosus. Prostaglandin E1 was started after birth. Chest X-ray showed severe cardiomegaly and echocardiogram confirmed Ebstein's anomaly with a thickened non-opening pulmonary valve without anterograde flow but with mild regurgitation.

Sports practice predicts better functional capacity in children and adults with Fontan circulation.

Background: Peak oxygen uptake (peak VO) and its decline predict death or serious cardiovascular adverse events in patients with Fontan circulation. Our aim was to study VO in a population of Fontan patients with variable age and contemporary surgical correction, and find predictors of functional status which could lead to management changes.

Methods: Prospective cardiopulmonary exercise test was performed on a treadmill.