77 research outputs found
Congenital Junctional Ectopic Tachycardia: Presentation And Outcome
Junctional ectopic tachycardia (JET) is a rare type of supraventricular arrhythmia. Even if its management has improved in recent years, it remains a great challenge for the cardiologist. Two are the possible clinical presentations of this arrhythmia: as a primary idiopathic disorder during infancy, configuring the so called congenital JET, or more often as a transient phenomenon immediately after surgery for congenital heart disease, giving rise to the post-operative variety. The congenital form, firstly described as a distinct entity by Coumel et al. in 19761, usually occurs in the first six months of life presenting as a persistent sustained form, lasting up to 90% of the time. Its clinical presentation may be dramatic, being associated in up to 60% of cases with cardiomegaly and/or heart failure. Congenital JET is hampered by high mortality. Secondary dilated cardiomyopathy, ventricular fibrillation and sudden cardiac death have also been reported 2,3
Pulmonary veins stenosis relief after an inappropriate radiofrequency catheter ablation of atrial fibrillation in a young non-competitive athlete
One of the major complications of radiofrequency catheter ablation (RFCA) for atrial fibrillation (AF) is pulmonary vein stenosis (PVS). The natural history of PVS, especially when it involves more than one vein, leads to severe and irreversible pulmonary hypertension with end-stage right heart failure that can require, in extreme cases, even heart-lung transplantation. We report the case of a young patient who underwent RFCA for a single lasting episode of AF and developed PVS years later. He was treated with ballon venoplasty followed by stent implantation in left pulmonary vein because of PVS relief. This reported case emphasizes the need of an adequate indication for RFCA for AF, considering the benefit-risk ratio especially in young patients with normal cardiac function
External Validation of a Risk Score Model for Predicting Major Clinical Events in Adults After Atrial Switch
BACKGROUND: A risk model has been proposed to provide a patient individualized estimation of risk for major clinical events (heart failure events, ventricular arrhythmia, all-cause mortality) in patients with transposition of the great arteries and atrial switch surgery. We aimed to externally validate the model. METHODS AND RESULTS: A retrospective, multicentric, longitudinal cohort of 417 patients with transposition of the great arteries (median age, 24âyears at baseline [interquartile range, 18-30]; 63% men) independent of the model development and internal validation cohort was studied. The performance of the prediction model in predicting risk at 5âyears was assessed, and additional predictors of major clinical events were evaluated separately in our cohort. Twenty-five patients (5.9%) met the major clinical events end point within 5âyears. Model validation showed good discrimination between high and low 5-year risk patients (Harrell C index of 0.73 [95% CI, 0.65-0.81]) but tended to overestimate this risk (calibration slope of 0.20 [95% CI, 0.03-0.36]). In our population, the strongest independent predictors of major clinical events were a history of heart failure and at least mild impairment of the subpulmonary left ventricle function. CONCLUSIONS: We reported the first external validation of a major clinical events risk model in a large cohort of adults with transposition of the great arteries. The model allows for distinguishing patients at low risk from those at intermediate to high risk. Previous episode of heart failure and subpulmonary left ventricle dysfunction appear to be key markers in the prognosis of patients. Further optimizing risk models are needed to individualize risk predictions in patients with transposition of the great arteries.</p
External Validation of a Risk Score Model for Predicting Major Clinical Events in Adults After Atrial Switch
BACKGROUND: A risk model has been proposed to provide a patient individualized estimation of risk for major clinical events (heart failure events, ventricular arrhythmia, all-cause mortality) in patients with transposition of the great arteries and atrial switch surgery. We aimed to externally validate the model. METHODS AND RESULTS: A retrospective, multicentric, longitudinal cohort of 417 patients with transposition of the great arteries (median age, 24âyears at baseline [interquartile range, 18-30]; 63% men) independent of the model development and internal validation cohort was studied. The performance of the prediction model in predicting risk at 5âyears was assessed, and additional predictors of major clinical events were evaluated separately in our cohort. Twenty-five patients (5.9%) met the major clinical events end point within 5âyears. Model validation showed good discrimination between high and low 5-year risk patients (Harrell C index of 0.73 [95% CI, 0.65-0.81]) but tended to overestimate this risk (calibration slope of 0.20 [95% CI, 0.03-0.36]). In our population, the strongest independent predictors of major clinical events were a history of heart failure and at least mild impairment of the subpulmonary left ventricle function. CONCLUSIONS: We reported the first external validation of a major clinical events risk model in a large cohort of adults with transposition of the great arteries. The model allows for distinguishing patients at low risk from those at intermediate to high risk. Previous episode of heart failure and subpulmonary left ventricle dysfunction appear to be key markers in the prognosis of patients. Further optimizing risk models are needed to individualize risk predictions in patients with transposition of the great arteries.</p
Impairment of circulating endothelial progenitors in Down syndrome
<p>Abstract</p> <p>Background</p> <p>Pathological angiogenesis represents a critical issue in the progression of many diseases. Down syndrome is postulated to be a systemic anti-angiogenesis disease model, possibly due to increased expression of anti-angiogenic regulators on chromosome 21. The aim of our study was to elucidate some features of circulating endothelial progenitor cells in the context of this syndrome.</p> <p>Methods</p> <p>Circulating endothelial progenitors of Down syndrome affected individuals were isolated, <it>in vitro </it>cultured and analyzed by confocal and transmission electron microscopy. ELISA was performed to measure SDF-1Îą plasma levels in Down syndrome and euploid individuals. Moreover, qRT-PCR was used to quantify expression levels of <it>CXCL12 </it>gene and of its receptor in progenitor cells. The functional impairment of Down progenitors was evaluated through their susceptibility to hydroperoxide-induced oxidative stress with BODIPY assay and the major vulnerability to the infection with human pathogens. The differential expression of crucial genes in Down progenitor cells was evaluated by microarray analysis.</p> <p>Results</p> <p>We detected a marked decrease of progenitors' number in young Down individuals compared to euploid, cell size increase and some major detrimental morphological changes. Moreover, Down syndrome patients also exhibited decreased SDF-1Îą plasma levels and their progenitors had a reduced expression of SDF-1Îą encoding gene and of its membrane receptor. We further demonstrated that their progenitor cells are more susceptible to hydroperoxide-induced oxidative stress and infection with Bartonella henselae. Further, we observed that most of the differentially expressed genes belong to angiogenesis, immune response and inflammation pathways, and that infected progenitors with trisomy 21 have a more pronounced perturbation of immune response genes than infected euploid cells.</p> <p>Conclusions</p> <p>Our data provide evidences for a reduced number and altered morphology of endothelial progenitor cells in Down syndrome, also showing the higher susceptibility to oxidative stress and to pathogen infection compared to euploid cells, thereby confirming the angiogenesis and immune response deficit observed in Down syndrome individuals.</p
Massive-Scale RNA-Seq Analysis of Non Ribosomal Transcriptome in Human Trisomy 21
Hybridization- and tag-based technologies have been successfully used in Down
syndrome to identify genes involved in various aspects of the pathogenesis.
However, these technologies suffer from several limits and drawbacks and, to
date, information about rare, even though relevant, RNA species such as long and
small non-coding RNAs, is completely missing. Indeed, none of published works
has still described the whole transcriptional landscape of Down syndrome.
Although the recent advances in high-throughput RNA sequencing have revealed the
complexity of transcriptomes, most of them rely on polyA enrichment protocols,
able to detect only a small fraction of total RNA content. On the opposite end,
massive-scale RNA sequencing on rRNA-depleted samples allows the survey of the
complete set of coding and non-coding RNA species, now emerging as novel
contributors to pathogenic mechanisms. Hence, in this work we analysed for the
first time the complete transcriptome of human trisomic endothelial progenitor
cells to an unprecedented level of resolution and sensitivity by RNA-sequencing.
Our analysis allowed us to detect differential expression of even low expressed
genes crucial for the pathogenesis, to disclose novel regions of active
transcription outside yet annotated loci, and to investigate a
plethora of non-polyadenilated long as well as short non coding RNAs. Novel
splice isoforms for a large subset of crucial genes, and novel extended
untranslated regions for known genesâpossibly novel miRNA targets or
regulatory sites for gene transcriptionâwere also identified in this
study. Coupling the rRNA depletion of samples, followed by high-throughput
RNA-sequencing, to the easy availability of these cells renders this approach
very feasible for transcriptome studies, offering the possibility of
investigating in-depth blood-related pathological features of Down syndrome, as
well as other genetic disorders
Pharmacological therapy in adult congenital heart disease with coronary artery disease and atrial fibrillation
Thanks to advances in both medical care and surgical techniques, over recent years, survival for patients with congenital heart disease (CHD) has increased significantly, with about 90% of patients now reaching adulthood. However, as CHD patients grow older, their relative risk of developing coronary artery disease (CAD) increases. Moreover, it has been demonstrated that the majority of adult congenital heart disease (ACHD) patients has at least one cardiovascular risk factor. On the other hand, common complications, such as atrial fibrillation (AF) may evolve into a major clinical concern and can be difficult to manage medically.This review aimed at examining the current pharmacological treatment strategies for primary and secondary prevention of CAD, medical and interventional treatment for supraventricular arrhythmias, as well as optimal medical strategies for ACHD patients with CAD and AF
Intra-atrial Re-entrant Tachycardia with Wenckebach Periodicity
A 15-year-old girl, previously asymptomatic for palpitations, underwent a successful atrial septal defect (ASD) device closure. Twelve weeks after the procedure, the patient was admitted complaining of dyspnoea on effort and palpitations. The twelve-lead ECG showed a narrow QRS tachycardia with slight heart rate irregularity, with a mean HR of 170bpm. P waves were not clearly identified with a suspicious of negative P-waves in II, III and aVF leads. No clear relationship could be observed between the suspected P waves and QRS complexe
Impact of pregnancy on natural history of systemic right ventricle in women with transposition of the great arteries
In the recent years, the pregnancy trend among women with Congenital Heart Disease (CHD) has increased; this has leaded to a growing demand for specialized care both in mother and in children. Although pregnancy is often well tolerated, maternal CHD may affect in some cases a maladaptive hemodynamic response carrying additional risks of cardiovascular events like arrhythmias, heart failure and, in rare cases, death. The impaired utero-placental perfusion due to maternal cardiac status may result in placental dysfunction, which may be associated with fetal growth restriction, preeclampsia, premature birth and perinatal morbidity. Systemic Right Ventricle (SRV) is one of the main conditions under which pregnancy is challenging. The sub-aortic position of morphological Right Ventricle (RV) is "physiologically" predisposed to fail at the adult age and may be potentially inadequate to support the hemodynamic stress of the pregnancy. Current literature about pregnancy in women with SRV consists of small retrospective series not providing conclusive evidence about the feasibility of a successful pregnancy outcomes. In addition, the long-term effects of pregnancy on SVR are not still adequately investigated and it remains unclear if maternal complications reported are due to pregnancy or to natural history of SVR. The aim of this paper is to offer a critical review of the knowledges at regard and to provide a practice update on the risk assessment and the pregnancy management in women with SRV in order to support the decision making and to optimize outcomes in these patients
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