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Objectives: We investigated the impact of school reopening on SARS-CoV-2 transmission in Italy, Germany, and Portugal in autumn 2022 when the Omicron variant was prevalent. Methods: A prospective international study was conducted using the case reproduction number (Rc) calculated with the time parametrization of Omicron. For Germany and Italy, staggered difference-in-differences analysis was employed to explore the causal relationship between school reopening and Rc changes, accounting for varying reopening dates. In Portugal, interrupted time series analysis was used due to simultaneous school reopenings. Multivariable models were adopted to adjust for confounders. Results: In Italy and Germany, post-reopening Rc estimates were significantly lower compared to those from regions/states that had not yet reopened at the same time points, both in the student population (overall average treatment effect for the treated subpopulation [O-ATT]: -0.80 [95% CI: -0.94;-0.66] for Italy; O-ATT-0.30 [95% CI: -0.36;-0.23] for Germany) and the adult population (O-ATT: -0.04 [95% CI: -0.07;-0.01] for Italy; O-ATT: -0.07 [95% CI: -0.11;-0.03] for Germany). In Portugal, there was a significant decreasing trend in Rc following school reopenings compared to the pre-reopening period (sustained effect: -0.03 [95% CI: -0.04; -0.03] in students; -0.02 [95% CI: -0.03; -0.02] in adults). Conclusions: We found no evidence of a causal relationship between school reopenings in autumn 2022 and Omicron SARS-CoV-2 transmission.

This study investigates the frequency of a clinically reported variant in PMS2, NM_000535.7:c.2523G>A p.(W841∗), from next-generation sequencing studies in 2 racially diverse cohorts. We identified clinical reports of the PMS2 c.2523G>A p.(W841∗) variant in the National Precision Oncology Program’s somatic testing database (n = 25,168). We determined frequency of the variant in germline exome sequencing from the Penn Medicine BioBank (n = 44,256) and in gnomAD. The PMS2 c.2523G>A p.(W841∗) was identified as a homozygous variant on tumor testing in an adult patient of self-identified Black race/ethnicity with no evidence of constitutional mismatch repair deficiency. The variant was clinically reported on 35 total tumor and liquid biopsy tests (0.1%), and all individuals with the variant were of self-identified Black race/ethnicity (0.6% of n = 5787). In individuals of African genetic ancestry (AFR), the variant's germline frequency was reported to be 0.2% and 1.3% in the Penn Medicine BioBank (PMBB) and gnomAD, respectively. The variant cannot be found in any individuals of European genetic ancestry (EUR) from either of the databases. The variant is found in a region of PMS2 with 100% homology to the PMS2CL pseudogene. PMS2 c.2523G>A p.(W841∗), when identified, is typically an African-ancestry-specific PMS2CL pseudogene variant, which should be recognized to prevent misdiagnosis of Lynch syndrome in Blacks.

Sorafenib is a multikinase inhibitor indicated for first-line treatment of unresectable hepatocellular carcinoma. Despite its widespread use in the clinic, the existing knowledge of sorafenib mode-of-action remains incomplete. To build upon the current understanding, we used the Cellular Thermal Shift Assay (CETSA) coupled to Mass Spectrometry (CETSA-MS) to monitor compound binding to its target proteins in the cellular context on a proteome-wide scale. Among the potential sorafenib targets, we identified aldehyde dehydrogenase 2 (ALDH2), an enzyme that plays a major role in alcohol metabolism. We validated the interaction of sorafenib with ALDH2 by orthogonal methods using pure recombinant protein, proving that this interaction is not mediated by other cellular components. Moreover, we showed that sorafenib inhibits ALDH2 activity, supporting a functional role for this interaction. Finally, we were able to demonstrate that both ALDH2 protein expression and activity were reduced in sorafenib-resistant cells compared to the parental cell line. Overall, our study allowed the identification of ALDH2 as a novel sorafenib target and sheds light on its potential role in both hepatocellular carcinoma and sorafenib resistance condition.

Summary: Background: Identifying novel epigenetic signatures associated with serum immunoglobulin E (IgE) may improve our understanding of molecular mechanisms underlying asthma and IgE-mediated diseases. Methods: We performed an epigenome-wide association study using whole blood from Framingham Heart Study (FHS; n = 3,471, 46% females) participants and validated results using the Childhood Asthma Management Program (CAMP; n = 674, 39% females) and the Genetic Epidemiology of Asthma in Costa Rica Study (CRA; n = 787, 41% females). Using the closest gene to each IgE-associated CpG, we highlighted biologically plausible pathways underlying IgE regulation and analyzed the transcription patterns linked to IgE-associated CpGs (expression quantitative trait methylation loci; eQTMs). Using prior UK Biobank summary data from genome-wide association studies of asthma and allergy, we performed Mendelian randomization (MR) for causal inference testing using the IgE-associated CpGs from FHS with methylation quantitative trait loci (mQTLs) as instrumental variables. Findings: We identified 490 statistically significant differentially methylated CpGs associated with IgE in FHS, of which 193 (39.3%) replicated in CAMP and CRA (FDR < 0.05). Gene ontology analysis revealed enrichment in pathways related to transcription factor binding, asthma, and other immunological processes. eQTM analysis identified 124 cis-eQTMs for 106 expressed genes (FDR < 0.05). MR in combination with drug-target analysis revealed CTSB and USP20 as putatively causal regulators of IgE levels (Bonferroni adjusted P

Objectives: To describe long-COVID symptoms among older adults and to assess the risk factors for two common long-COVID symptoms: fatigue and dyspnea. Methods: This is a multicenter, prospective cohort study conducted in Israel, Switzerland, Spain, and Italy. Individuals were included at least 30 days after their COVID-19 diagnosis. We compared long-COVID symptoms between elderly (aged >65 years) and younger individuals (aged 18-65 years) and conducted univariate and multivariable analyses for the predictors of long-COVID fatigue and dyspnea. Results: A total of 2333 individuals were evaluated at an average of 5 months (146 days [95% confidence interval 142-150]) after COVID-19 onset. The mean age was 51 years, and 20.5% were aged >65 years. Older adults were more likely to be symptomatic, with the most common symptoms being fatigue (38%) and dyspnea (30%); they were more likely to complain of cough and arthralgia and have abnormal chest imaging and pulmonary function tests. Independent risk factors for long-COVID fatigue and dyspnea included female gender, obesity, and closer proximity to COVID-19 diagnosis; older age was not an independent predictor. Conclusion: Older individuals with long-COVID have different persisting symptoms, with more pronounced pulmonary impairment. Women and individuals with obesity are at risk. Further research is warranted to investigate the natural history of long-COVID among the elderly population and to assess possible interventions aimed at promoting rehabilitation and well-being.

Introduction: Proportionality of secondary mitral regurgitation (sMR) may be a key factor in deciding whether a patient may benefit from mitral intervention. The aim of this study was to evaluate the prognostic value of two different concepts of proportionality and assess their ability to improve MR stratification proposed by the American Society of Echocardiography (ASE) guidelines. Methods: We conducted a retrospective analysis in patients with reduced left ventricular ejection fraction (LVEF) (0.14; b) Lopes et al. – disproportionate sMR whenever measured EROA>theoretical EROA (determined as 50%×LVEF×LVEDVMitralVTI). Primary endpoint was all-cause mortality. Results: A total of 572 patients (69±12 years; 76% male) were included. Mean LVEF was 33±9%, with a median left ventricular end-diastolic volume of 174 mL [136;220] and a median effective regurgitant orifice area of 14 mm2 [8;22]. During mean follow-up of 4.1±2.7 years, there were 254 deaths. There was considerable disagreement (p0.14; b) Lopes et al. – sMR desproporcional quando o EROA medido>EROA teórico (determinado por 50%×LVEF×LVEDVMitralVTI). O endpoint primário foi mortalidade por qualquer causa. Resultados: Foram incluídos 572 pacientes (69±12 anos; 76% sexo masculino). LVEF média foi de 33±9%, com um LVEDV mediano de 174 mL [136;220] e um EROA mediano de 14 mm2 [8;22]. Após um follow-up médio de 4,1±2,7 anos, ocorreram 254 mortes. Verificou-se marcada discordância (p

Endometriosis is a common gynecological disease that primarily affects premenopausal women. It is mainly found in the pelvis but may be found at several extrapelvic locations. Thoracic endometriosis is a rare extrapelvic location of endometriosis and the leading cause of catamenial pneumothorax. We describe the case of a 35-year-old woman with a background of pelvic pain presenting to the emergency department with chest pain and dyspnea. The chest X-ray in the emergency department showed a large right-sided pneumothorax. Further imaging studies during patient evaluation revealed extensive fibrotic changes in the pelvis and well-defined solid nodules with high signal on T2 and T1-weighted images on MRI in abdominal and thoracic locations, rendering the diagnosis of a catamenial pneumothorax in a patient with pelvic, abdominal and thoracic endometriosis.

Visual areas activated during perception can retain specific information held in memory without the presence of physical stimuli via distributed activity patterns. Neuroimaging studies have shown that the delay-period representation of information in visual areas is modulated by factors such as memory load and task demands, raising the possibility of serial position as another potential modulator. Specifically, enhanced representation of first items during the post-encoding delay period may serve as a mechanism underlying the well-established but not well-understood primacy effect – the mnemonic advantage of first items. To test this hypothesis, 13 males and 16 females performed a human fMRI task, wherein each trial consisted of the sequential encoding of two stimuli (a famous face and landscape, order counterbalanced), followed by a distracting task, a delay period, and then a cued recall of one of the items. Participants exhibited the expected behavioral primacy effect, manifested as faster recall of the first items. In order to elucidate the still debated neural underpinnings of this effect, using multivariate decoding, a classifier was trained on data collected during encoding to differentiate stimulus categories (i.e., faces vs. landscapes) and tested on data collected during the post-encoding period. Greater reactivation of first versus second items was observed in the ventral occipito-temporal cortex during the entire post-encoding period but not during encoding. Moreover, trial-level analyses revealed that the degree of first-item neural advantage during the post-encoding delay predicted the behavioral primacy effect. These findings highlight the role of item reinstatement in ventral occipito-temporal cortex in the primacy effect and are discussed in the context of the uniqueness of the very first item and event boundaries, illuminating putative neural mechanisms underlying the effect.

Introduction and Objectives: The 2019 ESC guidelines on chronic coronary syndromes updated the method for estimating the pre-test probability (PTP) of obstructive coronary artery disease (CAD). We aimed to compare the performance of the new PTP method against the 2013 prediction model in patients with stable chest pain undergoing coronary computed tomography angiography (CCTA) for suspected CAD. Methods: We conducted a single-center cross-sectional study enrolling 320 consecutive patients undergoing CCTA for suspected CAD. Obstructive CAD was defined as any ≥50% luminal stenosis on CCTA. Whenever invasive coronary angiography was subsequently performed, patients were reclassified accordingly. The two PTP prediction models were assessed for calibration, discrimination and the ability to change the downstream diagnostic pathway. Results: The observed prevalence of obstructive CAD was 16.3% (n=52). The 2013 prediction model significantly overestimated the likelihood of obstructive CAD (relative overestimation of 130%, p=0.005), while the updated 2019 method showed good calibration (relative underestimation of 6.5%, p=0.712). The two approaches showed similar discriminative power, with C-statistics of 0.73 (95% CI: 0.66-0.80) and 0.74 (95% CI: 0.66-0.81) for the 2013 and 2019 methods, respectively (p=0.933). Reclassification of PTP using the new method resulted in a net reclassification improvement of 0.10 (p=0.001). Conclusions: The updated 2019 prediction model provides a more accurate estimation of pre-test probabilities of obstructive CAD than the previous model. Adoption of this new score may improve disease prediction and influence the selection of non-invasive testing. Resumo: Introdução e objetivos: As novas guidelines da ESC de síndromes coronárias crónicas de 2019 atualizaram o método para estimar a probabilidade pré-teste (PPT) de doença arterial coronária (DAC) obstrutiva. O objetivo do nosso trabalho foi comparar o desempenho do novo método de estimativa da PPT com o modelo de 2013 em doentes com angina estável submetidos a angiotomografia das artérias coronárias por suspeita de DAC. Métodos: Foi realizado um estudo transversal de centro único envolvendo 320 doentes consecutivos submetidos a angiotomografia coronária por suspeita de DAC. DAC obstrutiva foi definida como qualquer estenose ≥50% na angiotomografia. Sempre que realizada angiografia coronária invasiva, os doentes foram reclassificados em conformidade. Os dois modelos de previsão da PPT foram avaliados quanto à calibração, discriminação e capacidade para alterar a marcha diagnóstica subsequente. Resultados: A prevalência observada de DAC obstrutiva foi de 16,3% (n=52). O modelo de previsão de 2013 sobrestimou significativamente a probabilidade de DAC obstrutiva (sobrestimação relativa de 130%, valor-p 0,005), enquanto o método de 2019 mostrou uma boa calibração (subestimativa relativa de 6,5%, valor-p 0,712). As duas abordagens mostraram poder discriminativo semelhante, com estatística C de 0,73 (IC 95%: 0,66-0,80) e 0,74 (IC 95%: 0,66-0,81) para os métodos de 2013 e 2019, respetivamente (valor-p 0,933). A reclassificação da PPT usando o novo método resultou numa melhoria de reclassificação líquida de 0,10 (valor-p=0,001). Conclusões: O modelo de previsão atualizado de 2019 permite uma estimativa mais precisa das probabilidades pré-teste de DAC obstrutiva do que o modelo anterior. A adoção deste novo método pode melhorar a previsão de doença e ter impacto na seleção dos testes diagnósticos não invasivos.

Summary: Biobanks of linked clinical patient histories and biological samples are an efficient strategy to generate large cohorts for modern genetics research. Biobank recruitment varies by factors such as geographic catchment and sampling strategy, which affect biobank demographics and research utility. Here, we describe the Michigan Genomics Initiative (MGI), a single-health-system biobank currently consisting of >91,000 participants recruited primarily during surgical encounters at Michigan Medicine. The surgical enrollment results in a biobank enriched for many diseases and ideally suited for a disease genetics cohort. Compared with the much larger population-based UK Biobank, MGI has higher prevalence for nearly all diagnosis-code-based phenotypes and larger absolute case counts for many phenotypes. Genome-wide association study (GWAS) results replicate known findings, thereby validating the genetic and clinical data. Our results illustrate that opportunistic biobank sampling within single health systems provides a unique and complementary resource for exploring the genetics of complex diseases.

Introduction: Coronary artery calcium (CAC) scoring is used for both cardiovascular risk reclassification and as a gatekeeper for coronary computed tomography angiography (CCTA). The aims of this study were to assess to what extent CAC score results can reclassify the cardiovascular risk of patients without obstructive coronary artery disease (CAD) on CCTA, and to measure the proportion of these patients whose primary prevention medication is changed after the exam. Methods: In a retrospective analysis of a multicenter registry of individuals who underwent CCTA for suspected CAD during a two-year period, the Systematic COronary Risk Evaluation (SCORE) and Multi-Ethnic Study of Atherosclerosis (MESA) risk scores were calculated for each individual. In a subset of 184 patients, we also assessed the prescription of statins and antiplatelet agents before and after the test. Results: A total of 467 patients (248 women, mean age 60±9.10 years) were included. Median CAC score was 0 (interquartile range 0-40). Overall, 249 patients (53%) and 159 (34%) were classified as being of moderate/intermediate risk according to the SCORE and MESA risk scores, respectively. Among these, 29 (12%) and 30 (19%) patients had CAC score >100 AU, making them eligible for statin therapy. The inclusion of CAC scoring in the MESA score resulted in the reclassification of 215 patients (46%). The proportion of patients who were prescribed statins or antiplatelet agents did not change significantly after the test. Conclusion: CAC scoring can reclassify cardiovascular risk in a significant proportion of patients undergoing CCTA. Despite this, little change was seen in the prescription of statins and antiplatelet agents. Resumo: Introdução: O score de cálcio coronário (ScCa) é utilizado para reclassificação do risco cardiovascular e como gatekeeper para a realização de angiografia coronária por tomografia computadorizada (angio-TC). Os objetivos deste estudo são a avaliação do impacto dos resultados do ScCa na reclassificação do risco cardiovascular em doentes sem doença arterial coronária obstrutiva e a quantificação da proporção de doentes em contexto de prevenção primária cuja terapêutica foi modificada após o exame. Métodos: Análise retrospetiva de um registro multicêntrico de doentes submetidos a angio-TC por suspeita de doença arterial coronária significativa durante um período de dois anos. Os scores de risco Systematic COronary Risk Evaluation (SCORE) e Multi-Ethnic Study of Atherosclerosis (MESA) foram calculados em cada doente. Num subgrupo de 184 doentes, avaliámos a prescrição da estatina e da terapêutica antiagregante plaquetar antes e depois da realização do exame. Resultados: Foram incluídos 467 pacientes (248 mulheres, com idade média de 60 ± 9,10 anos). O ScCa mediano foi de 0 (intervalo interquartil de 0 a 40). Globalmente, 249 (53%) e 159 (34%) doentes foram classificados com risco moderado/intermédio, de acordo com os scores de risco SCORE e MESA, respetivamente. Neste grupo, 29 (12%) e 30 (19%) doentes apresentavam ScCa > 100, tornando-os elegíveis para terapêutica com estatinas. A inclusão dos resultados do ScCa no score de MESA resultou na reclassificação de 215 doentes (46%). A proporção de doentes que receberam estatinas ou agentes antiplaquetários não mudou significativamente após o exame. Conclusão: Os resultados do ScCa têm a capacidade de reclassificar o risco cardiovascular numa proporção significativa de pacientes submetidos a angio-TC. No entanto, pouco se alterou na prescrição de estatinas e terapia antiagregante plaquetar.

The analysis of the viruses allocated to the recently established Brevihamaparvovirus genus (Parvoviridae family), which includes all previously known brevidensoviruses, has not yet been carried out on an extensive basis. As a result, no detailed genetic lineage characterization has ever been performed for this group of insect-specific viruses.Using a wide range of molecular tools, we have explored this taxon by calculating Shannon entropy values, intra- and inter-taxon genetic distances, analysed sequence polymorphisms, and evaluated selective pressures acting on the viral genome. While the calculated Brevihamaparvovirus mutation rates were within the range of those of other parvoviruses, their genomes look to be under strong purifying selection, and are also characterized by low diversity and entropy. Furthermore, even though recombination events are quite common among parvoviruses, no evidence of recombination (either intra or intergenic) was found in the Brevihamaparvoviruses sequences analyzed. An extended taxonomic analysis and reevaluation of existing Brevihamaparvoviruses sequences, many still unclassified, was performed using cut-off values defining NS1 identity between viral sequences from the Parvovirus family. Two existing genetic lineages, Dipteran Brevihamaparvovirus 1 and Dipteran Brevihamaparvovirus 2, were rearranged and the creation of a new one, Dipteran Brevihamaparvovirus 3, was suggested. Finally, despite the uncertainties associated with both the time estimates of the most recent common ancestors, which could span from twenty thousand years before the current era to way earlier (in the last century), and the dispersal routes proposed for Brevihamaparvoviruses sequences by phylodynamic reconstruction, the analyses here presented could help define how future studies should be conducted as more isolates continue to be identified in the future, and contribute to eliminating possible analytical biases.

Research on the recently established Mesoniviridae family (Order Nidovirales), RNA genome insect-specific viruses, has been steadily growing in the last decade. However, after the last detailed phylogenetic characterization of mesoniviruses in 2014, numerous new sequences, even in organisms other than mosquitos, have been identified and characterized.In this study, we analyzed nucleotide and protein sequences of mesoniviruses with a wide range of molecular tools including genetic distance, Shannon entropy, selective pressure analysis, polymorphism identification, principal coordinate analysis, likelihood mapping and phylodynamic reconstruction. We also sought to revaluate new mesoniviruses sequence positions within the family, proposing a taxonomic revision.The different sub-lineages of mosquito mesoniviruses sequences presented low sequence diversity and entropy, with incongruences to the existing taxonomy being found after an extensive phylogenetic characterization. High sequence discrepancy and differences in genome organization were found between mosquito mesoniviruses and other mesoniviruses, so their future classification, as other meso-like viruses that are found in other organisms, should be approached with caution.No evidence of frequent recombination was found, and mesonivirus genomes seem to evolve under strong purifying selection. Insufficient data by root-to-tip analysis did not yet allow for an adequate phylogeographic reconstruction.

Summary: Because transethnic analysis may facilitate prioritization of causal genetic variants, we performed a genome-wide association study (GWAS) of psoriasis in South Asians (SAS), consisting of 2,590 cases and 1,720 controls. Comparison with our existing European-origin (EUR) GWAS showed that effect sizes of known psoriasis signals were highly correlated in SAS and EUR (Spearman ρ = 0.78; p < 2 × 10−14). Transethnic meta-analysis identified two non-major histocompatibility complex (non-MHC) psoriasis loci (1p36.22 and 1q24.2) not previously identified in EUR, which may have regulatory roles. For these two loci, the transethnic GWAS provided higher genetic resolution and reduced the number of potential causal variants compared to using the EUR sample alone. We then explored multiple strategies to develop reference panels for accurately imputing MHC genotypes in both SAS and EUR populations and conducted a fine mapping of MHC psoriasis associations in SAS and the largest such effort for EUR. HLA-C∗06 was the top-ranking MHC locus in both populations but was even more prominent in SAS based on odds ratio, disease liability, model fit, and predictive power. Transethnic modeling also substantially boosted the probability that the HLA-C∗06 protein variant is causal. Secondary MHC signals included coding variants of HLA-C and HLA-B, but also potential regulatory variants of these two genes as well as HLA-A and several HLA class II genes, with effects on both chromatin accessibility and gene expression. This study highlights the shared genetic basis of psoriasis in SAS and EUR populations and the value of transethnic meta-analysis for discovery and fine mapping of susceptibility loci.

Summary: Genetic studies on telomere length are important for understanding age-related diseases. Prior GWASs for leukocyte TL have been limited to European and Asian populations. Here, we report the first sequencing-based association study for TL across ancestrally diverse individuals (European, African, Asian, and Hispanic/Latino) from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program. We used whole-genome sequencing (WGS) of whole blood for variant genotype calling and the bioinformatic estimation of telomere length in n = 109,122 individuals. We identified 59 sentinel variants (p < 5 × 10−9) in 36 loci associated with telomere length, including 20 newly associated loci (13 were replicated in external datasets). There was little evidence of effect size heterogeneity across populations. Fine-mapping at OBFC1 indicated that the independent signals colocalized with cell-type-specific eQTLs for OBFC1 (STN1). Using a multi-variant gene-based approach, we identified two genes newly implicated in telomere length, DCLRE1B (SNM1B) and PARN. In PheWAS, we demonstrated that our TL polygenic trait scores (PTSs) were associated with an increased risk of cancer-related phenotypes.

Summary: Gut dysmotility is associated with constipation, diarrhea, and functional gastrointestinal disorders like irritable bowel syndrome (IBS), although its molecular underpinnings are poorly characterized. We studied stool frequency (defined by the number of bowel movements per day, based on questionnaire data) as a proxy for gut motility in a GWAS meta-analysis including 167,875 individuals from UK Biobank and four smaller population-based cohorts. We identify 14 loci associated with stool frequency (p ≤ 5.0 × 10−8). Gene set and pathway analyses detected enrichment for genes involved in neurotransmitter/neuropeptide signaling and preferentially expressed in enteric motor neurons controlling peristalsis. PheWAS identified pleiotropic associations with dysmotility syndromes and the response to their pharmacological treatment. The genetic architecture of stool frequency correlates with that of IBS, and UK Biobank participants from the top 1% of stool frequency polygenic score distribution were associated with 5× higher risk of IBS with diarrhea. These findings pave the way for the identification of actionable pathological mechanisms in IBS and the dysmotility syndromes.

Hypertrophic cardiomyopathy is one of the main causes of sudden cardiac death in young athletes. Differentiating between this pathological condition and ‘athlete's heart’ can be quite challenging, warranting a thorough clinical and imaging assessment. Clinicians often rely on detraining-induced attenuation of electrocardiographic and echocardiographic findings as a means of distinguishing between pathological and physiological cardiac remodeling. This report describes detraining-related regression of left ventricular hypertrophy in a young soccer player with a diagnosis of hypertrophic cardiomyopathy. It challenges the dogma that regression of electrocardiographic abnormalities and left ventricular hypertrophy is exclusive to physiological remodeling and questions the impact of exercise training in the phenotypic expression and progression of hypertrophic cardiomyopathy. Resumo: A miocardiopatia hipertrófica é uma das principais causas de morte súbita de origem cardíaca em jovens atletas. Distinguir entre esta patologia e o “coração de atleta” pode ser difícil, exigindo uma avaliação clínica e imagiológica exaustiva. Frequentemente recorre-se à atenuação dos achados eletrocardiográficos e ecocardiográficos induzidos pela pausa desportiva como forma de distinguir entre remodelagem fisiológica e patológica. Neste caso clínico descrevemos a regressão da hipertrofia ventricular esquerda induzida pela pausa desportiva num jovem futebolista com o diagnóstico de miocardiopatia hipertrófica. Este caso põe em causa o dogma de que a regressão das alterações eletrocardiográficas e a da hipertrofia ventricular esquerda é exclusiva da remodelação fisiológica e, simultaneamente, levanta dúvidas sobre a influência do treino físico na evolução e expressão fenotípica da miocardiopatia hipertrófica.

Summary: Mitochondrial DNA (mtDNA) is present in multiple copies in human cells. We evaluated cross-sectional associations of whole-blood mtDNA copy number (CN) with several cardiometabolic disease traits in 408,361 participants of multiple ancestries in TOPMed and UK Biobank. Age showed a threshold association with mtDNA CN: each additional 10 years of age was associated with a 0.03 SD higher level of mtDNA CN (p = 0.0014) among younger participants (younger than 65 years) versus a 0.14 SD lower level of mtDNA CN (p = 1.82 × 10−13) among older participants (65 years and older). At lower mtDNA CN levels, we found age-independent associations with increased odds of obesity (p = 5.6 × 10−238), hypertension (p = 2.8 × 10−50), diabetes (p = 3.6 × 10−7), and hyperlipidemia (p = 6.3 × 10−56). The observed decline in mtDNA CN after 65 years of age may be a key to understanding age-related diseases.

Abstract Background Identifying the patients with hypertrophic cardiomyopathy (HCM) in whom the risk of sudden cardiac death (SCD) justifies the implantation of a cardioverter-defibrillator (ICD) in primary prevention remains challenging. Different risk stratification and criteria are used by the European and American guidelines in this setting. We sought to evaluate the role of cardiovascular magnetic resonance (CMR) late gadolinium enhancement (LGE) in improving these risk stratification strategies. Methods We conducted a multicentric retrospective analysis of HCM patients who underwent CMR for diagnostic confirmation and/or risk stratification. Eligibility for ICD was assessed according to the HCM Risk-SCD score and the American College of Cardiology Foundation/American Heart Association (ACCF/AHA) algorithm. The amount of LGE was quantified (LGE%) and categorized as 0%, 0.1–10%, 10.1–19.9% and ≥ 20%. The primary endpoint was a composite of SCD, aborted SCD, sustained ventricular tachycardia (VT), or appropriate ICD discharge. Results A total of 493 patients were available for analysis (58% male, median age 46 years). LGE was present in 79% of patients, with a median LGE% of 2.9% (IQR 0.4–8.4%). The concordance between risk assessment by the HCM Risk-SCD, ACCF/AHA and LGE was relatively weak. During a median follow-up of 3.4 years (IQR 1.5–6.8 years), 23 patients experienced an event (12 SCDs, 6 appropriate ICD discharges and 5 sustained VTs). The amount of LGE was the only independent predictor of outcome (adjusted HR: 1.08; 95% CI: 1.04–1.12; p

Introduction: The CAD-RADSTM classification was recently introduced in an attempt to standardize coronary computed tomography angiography (CCTA) reports and to provide recommendations for further management. The aim of this study was to assess how additional cardiac investigations were being ordered before the introduction of the CAD-RADS classification in a tertiary hospital's CCTA reports. Methods: We conducted a single-center retrospective analysis of 200 patients (103 women, mean age 59±13 years) who underwent CCTA for suspected or known coronary artery disease prior to the systematic introduction of the CAD-RADS classification in the reports. For each case, we assessed whether further cardiac investigation was requested after CCTA and what type of test was performed (functional testing, invasive coronary angiography or viability testing). Results: The majority of patients (n=158; 79%) were classified as CAD-RADS 0-2. In patients with lower (0-2) or higher (4 or 5) scores, further testing was in accordance with CAD-RADS recommendations in 98% of cases (n=168). In patients with CAD-RADS 3 (intermediate stenosis), functional testing was requested as recommended in only 36% of cases (n=5), while 50% (n=7) proceeded directly to invasive coronary angiography. In patients in whom CCTA was non-diagnostic, most did not undergo further cardiac investigation. Conclusion: In patients with CAD-RADS classifications at the ends of the spectrum, additional cardiac investigation after CCTA was almost always in accordance with the recommendations. However, in patients with intermediate scores, invasive coronary angiography prevailed over functional testing. Resumo: Introdução: A classificação CAD-RADS® foi recentemente introduzida com o objetivo de padronizar os relatórios da AngioTC coronária e fornecer recomendações sobre a investigação futura. O objetivo deste trabalho foi avaliar qual o tipo de investigação cardíaca adicional solicitada antes da introdução da classificação CAD-RADS® nos relatórios de AngioTC coronária de um hospital terciário. Métodos: Análise retrospetiva de centro único em que foram avaliados 200 doentes (103 mulheres, idade média 59±13 anos) que realizaram AngioTC por suspeita ou avaliação de doença coronária, antes da introdução sistemática da classificação CAD-RADS® nos relatórios. Em cada caso avaliou-se se foi realizada investigação cardíaca adicional após a AngioTC e qual o tipo de exame requisitado (avaliação funcional de isquemia, angiografia coronária invasiva ou teste de viabilidade). Resultados: A maioria dos doentes (n = 158; 79%) foram classificados como CAD-RADS® 0 - 2. Nos doentes com pontuação mais baixa (0-1) ou mais elevada (4-5), a investigação realizada foi concordante com as recomendações em 98% dos casos (n = 168). Em doentes com CAD-RADS® = 3 (estenose intermédia), os testes funcionais foram requisitados em apenas 36% dos casos (n = 5), enquanto 50% (n = 7) realizaram diretamente angiografia coronária invasiva. Nos doentes em que o estudo não foi diagnóstico, a maioria não realizou nova investigação cardíaca. Conclusão: Nos doentes com classificação CAD-RADS® nos extremos da pontuação, a avaliação cardíaca adicional após realização de AngioTC coronária foi muito semelhante àquela prevista pelo score. Contudo, nos doentes com classificação intermédia, a coronariografia prevaleceu sobre o teste funcional. Keywords: CAD-RADSTM, Coronary artery disease, Coronary computed tomography angiography, Cardiac investigation, Palavras-chave: CAD-RADS®, Doença coronária, AngioTC coronária, Investigação cardíaca

Background: Genetic factors that influence kidney traits have been understudied for low frequency and ancestry-specific variants. Methods: We combined whole genome sequencing (WGS) data from 23,732 participants from 10 NHLBI Trans-Omics for Precision Medicine (TOPMed) Program multi-ethnic studies to identify novel loci for estimated glomerular filtration rate (eGFR). Participants included European, African, East Asian, and Hispanic ancestries. We applied linear mixed models using a genetic relationship matrix estimated from the WGS data and adjusted for age, sex, study, and ethnicity. Findings: When testing single variants, we identified three novel loci driven by low frequency variants more commonly observed in non-European ancestry (PRKAA2, rs180996919, minor allele frequency [MAF] 0.04%, P = 6.1 × 10−11; METTL8, rs116951054, MAF 0.09%, P = 4.5 × 10−9; and MATK, rs539182790, MAF 0.05%, P = 3.4 × 10−9). We also replicated two known loci for common variants (rs2461702, MAF=0.49, P = 1.2 × 10−9, nearest gene GATM, and rs71147340, MAF=0.34, P = 3.3 × 10−9, CDK12). Testing aggregated variants within a gene identified the MAF gene. A statistical approach based on local ancestry helped to identify replication samples for ancestry-specific variants. Interpretation: This study highlights challenges in studying variants influencing kidney traits that are low frequency in populations and more common in non-European ancestry.

With the global increase of marine protected area (MPA) implementation, the need for monitoring and the evaluation of their effectiveness becomes ever more important. Currently there is a severe lack of information about the protection effects of soft-substrate ecosystems. While many different methods have been established for the monitoring of hard-substrate ecosystems, most of these minimally invasive methods prove ineffective for soft- bottom habitats. Information and quantification of the impact of monitoring methods is needed to provide decision makers with the necessary knowledge to choose appropriate and feasible monitoring methods. In this study we quantify the impact of experimental trammel net fishing as a monitoring method of the soft-substrate demersal fish community using the Arrábida MPA (Portugal) as a case study. Over the 14 biannual sampling campaigns (between 2010 and 2019) 21,873 individuals and 5.61 tonnes of fish were caught. The gear is highly effective with an average catch per unit effort higher than reported for commercial fisheries in adjacent areas. When excluding the pelagic species, mortality rates are 41.2% and 30.4% in numbers and biomass, respectively. Most of the dead individuals belong to small, non-protected species with relatively little commercial value while MPA conservation target groups such as Soleidae and Rajidae have high survival rates. Due to its low size- and species-selectivity and the high survival rate of protected valuable species, the trammel net experimental fishing proved to be an effective monitoring method for soft-substrate demersal fish communities. Given their relatively low impact on the local ecosystem experimental trammel nets are a good alternative for areas where non-extractive methods are not effective. Nevertheless, quantification of the impact of other monitoring methods is necessary to enable the determination of the methods with the lowest mortality and impact for future soft-substrate MPA monitoring.

An 80-year-old woman with rheumatic valve disease and two previous cardiac surgeries was admitted for heart failure exacerbation. The patient presented stenotic aortic 19-mm Mitroflow and mitral 31-mm Carpentier-Edwards bioprostheses, and was deemed inoperable due to frailty and prohibitive surgical risk. The heart team decided on a compassionate double valve-in-valve procedure, with transfemoral implantation of a 23-mm aortic CoreValve Evolut R and transapical implantation of a 29-mm mitral Edwards SAPIEN 3. During the procedure, after extreme difficulty in retrograde crossing of the aortic valve, a transapical-transfemoral loop was successfully performed. The procedure was without complications and the patient was discharged in NYHA class II with normally functioning valves. Resumo: Uma mulher de 80 anos com valvulopatia reumática e duas cirurgias cardíacas prévias foi internada por insuficiência cardíaca agudizada. A doente apresentava estenose de biopróteses Mitroflow 19 em posição aórtica e Carpentier-Edwards 31 em posição mitral, sendo considerada inoperável devido a fragilidade e a risco cirúrgico proibitivo. A Heart Team decidiu por um duplo procedimento valve-in-valve compassionate: implantação de Corevalve Evolut R 23 em posição aórtica via transfemoral e de Edwards Sapiens 3 29 em posição mitral por via apical. Durante o procedimento e após dificuldades extremas na progressão por via retrógrada aórtica, uma ansa transapical-femoral foi bem-sucedida. O procedimento correu sem complicações. A doente teve alta em classe NYHA II com biopróteses normofuncionantes.

Introduction: Surgical risk scores are widely used to identify patients at high surgical risk who may benefit from transcatheter aortic valve implantation (TAVI). A multiparametric TAVI mortality risk score based on a French registry (FRANCE-2) has recently been developed. The aim of our study was to compare the 30-day mortality prediction performance of the FRANCE-2, EuroSCORE II and STS scores. Methods: We retrospectively studied 240 patients from a single-center prospective registry who underwent TAVI between January 2008 and December 2015. All scores were assessed for calibration and discrimination using calibration-in-the-large and ROC curve analysis, respectively. Results: The observed mortality was 5.8% (n=14). The median EuroSCORE II, STS and FRANCE-2 scores were 5.0 (IQR 3.2-8.3), 5.1 (IQR 3.6-7.1) and 2.0 (IQR 1.0-3.0), respectively. Discriminative power was greater for EuroSCORE II (C-statistic 0.67) and STS (C-statistic 0.67) than for FRANCE-2 (C-statistic 0.53), but this was not statistically significant (p=0.26). All scores showed adequate calibration. Conclusions: All scores showed modest performance in early mortality prediction after TAVI. Despite being derived from a TAVI population, FRANCE-2 was no better than surgical risk scores in our population. Resumo: Introdução: Os scores de risco cirúrgico têm sido amplamente usados para identificar doentes com alto risco cirúrgico que podem beneficiar da implantação de válvula aórtica por via percutânea (TAVI). Foi recentemente apresentado um «score de risco» multiparamétrico de mortalidade por TAVI com base num registo francês – FRANCE 2. O objetivo do nosso estudo foi comparar o desempenho do FRANCE 2, EuroSCORE II (ES II) e STS-Prom (STS) em prever a mortalidade a 30 dias nos doentes submetidos a TAVI. Métodos: Foram estudados retrospetivamente 240 doentes de um registo prospetivo de centro único que foram submetidos a TAVI entre janeiro de 2008 e dezembro de 2015. Todos os scores foram avaliados para discriminação e calibração, com o uso da análise de curvas ROC e da análise de calibration-in-the-large, respetivamente. Resultados: A mortalidade observada foi de 5,8% (n = 14). A mediana do ES II, STS II e FRANCE II foi de 5,0 (IQR 3,2-8,3), 5,1 (IQR 3,6-7,1) e 2,0 (IQR 1,0-3,0), respetivamente. O poder discriminatório foi maior para ES II (C-statistic 0,67) e STS (C-statistic 0,67) quando comparado com o FRANCE 2 (C-statistic 0,53), embora não fosse estatisticamente significativo (p = 0,26). Todos os scores apresentaram calibração adequada. Conclusões: Todos os scores apresentaram um desempenho modesto em prever a mortalidade precoce após TAVI. Apesar de ser derivado de uma população de doentes submetidos a TAVI, o FRANCE-2 não mostrou ser melhor do que os scores de risco cirúrgicos na nossa população. Keywords: Aortic stenosis, Transcatheter aortic valve implantation, Risk scores, Early mortality, Palavras-chave: Estenose aórtica, TAVI, Scores de risco, Mortalidade precoce

Introduction: Natriuretic peptides are ubiquitously used for diagnosis, follow-up and prognostic assessment in various heart conditions. N-terminal pro-brain natriuretic peptide (NT-proBNP) correlates with aortic stenosis severity, however its significance after transcatheter aortic valve implantation (TAVI) is not well established. Aim: We aimed to assess the prognostic value of NT-proBNP at one year in patients undergoing TAVI. Methods: This single-center retrospective analysis included 151 patients in whom both baseline and one-month post-procedure NT-proBNP were measured, from 206 consecutive patients undergoing TAVI between November 2008 and December 2014. The best cut-off values of both baseline and one-month post-TAVI NT-proBNP for one-year mortality were determined by receiver operating characteristic curve analysis. Independent predictors of one-year mortality were assessed by Cox regression. Results: The areas under the curve of baseline and post-procedural NT-proBNP for one-year mortality were 0.60 and 0.72, with the best cut-off values of 1350 and 2500 pg/ml, respectively. Atrial fibrillation, procedure-related major bleeding, baseline NT-proBNP higher than 1350 pg/ml, post-procedural NT-proBNP higher than 2500 pg/ml, higher creatinine and Society of Thoracic Surgeons score, and lower left ventricular ejection fraction were associated with one-year mortality. Only post-procedural NT-proBNP was independently and negatively associated with one-year survival (HR 5.9, 95% CI 1.6-21.7, p=0.008). Conclusions: Baseline NT-proBNP did not predict one-year mortality; on the other hand one-month post-procedural NT-proBNP higher than 2500 pg/ml may identify a high-risk subset of patients, allowing better management, care and hypothetically outcome. Resumo: Introdução: Os peptídeos natriuréticos são usados de forma ubíqua para o diagnóstico, seguimento e avaliação prognóstica em cardiologia. O NT-ProBNP correlaciona-se com a gravidade da estenose aórtica, porém o seu significado após VAP não está bem estabelecido. Objetivo: Avaliar o valor prognóstico do NT-ProBNP nos doentes submetidos a VAP. Métodos: Análise retrospetiva de 151 doentes, de um registo de 206 doentes consecutivos de novembro de 2008 a dezembro de 2014, com doseamentos de NT-ProBNP basal e após um mês da implantação de VAP. Os preditores independentes de mortalidade a um ano foram avaliados por regressão Cox. Resultados: Os melhores valores discriminativos de NT-ProBNP basal e pós-procedimento foram 1.350 e 2.500, respetivamente. Somente um valor de NT-ProBNP pós-procedimento superior a 2.500pg/ml foi preditor independente e negativamente associado à sobrevida a um ano (HR 5,9; 95% IC 1,6-21,7; p = 0,008). Conclusões: O NT-ProBNP basal não previu a mortalidade a um ano. Por outro lado, o NT-ProBNP superior a 2.500pg/ml após o procedimento identificou um subgrupo de doentes de alto risco, permitiu um melhor manejo, seguimento e possíveis resultados. Keywords: Transcatheter aortic valve replacement, Aortic valve stenosis, N-terminal pro-BNP, Prognosis, Palavras-chave: Válvula aórtica percutânea, Estenose aórtica, N-terminal pro-BNP, Prognóstico

Introduction: Aortic stenosis is the most prevalent type of valvular disease in Europe. Surgical aortic valve replacement (SAVR) is the standard therapy, while transcatheter aortic valve implantation (TAVI) is an alternative in patients at unacceptably high surgical risk. Assessment by a heart team is recommended by the guidelines but there is little published evidence on this subject. The purpose of this paper is to describe the experience of a multidisciplinary TAVI program that began in 2008. Methods: The heart team prospectively assessed 473 patients using a standardized approach. A total of 214 patients were selected for TAVI and 80 for SAVR. Demographic, clinical and procedural characteristics and long-term success rates were compared between the groups. Results: TAVI patients were older than the SAVR group (median 83 vs. 81 years), and had higher surgical risk scores (median EuroSCORE II 5.3 vs. 3.6% and Society of Thoracic Surgeons score 5.1 vs. 3.1%), as did the patients under medical treatment only. These scores were unable to assess multiple comorbidities. Patients’ outcomes were different between the three groups (mortality with SAVR 25% vs. TAVI 37.6% vs. conservative therapy 57.6%, p=0.001). Conclusions: The heart team program was able to select candidates appropriately for TAVI, SAVR and conservative treatment, taking into account the risk of both invasive treatments. The use of a prospective standardized heart team approach is recommended, but requires continuous monitoring to ensure effectiveness in a timely manner. Resumo: Introdução: A estenose aórtica é atualmente a doença valvular mais prevalente na Europa. A substituição valvular aórtica cirúrgica (SVAC) é atualmente considerada a terapêutica de primeira linha, a implantação de válvula aórtica percutânea (VAP) é considerada uma opção em doentes com elevado risco cirúrgico. A avaliação dos doentes pelo Heart Team encontra-se preconizada pelas recentes guidelines publicadas de doenças valvulares, contudo existem poucas publicações acerca dessa temática. O objetivo deste manuscrito é descrever a experiência de um programa multidisciplinar VAP, iniciado em 2008. Métodos: O Heart Team avaliou de forma prospetiva e padronizada 473 doentes. Desses, 214 foram selecionados para VAP e 80 para SVAC. Os grupos foram comparados no que respeita às suas características demográficas, clínicas, de procedimento e quanto à sua evolução (mortalidade). Resultados: O grupo VAP apresentou maior idade do que o grupo SVAC (mediana 83 versus 81 anos) e apresentou scores de risco cirúrgico mais elevados (mediana Euroscore II 5,3 versus 3,6% e STS 5,1 versus 3,1%), tal como o grupo de doentes apenas sob terapêutica médica. Esses scores não foram capazes de avaliar múltiplas comorbilidades. A mortalidade entre os três grupos apresentou diferenças com significado estatístico (SVAC 25% versus VAP 37,6% versus terapêutica conservadora 57,6%, p=0,001). Conclusões: O programa Heart Team foi capaz de selecionar de forma adequada os doentes para as diversas estratégias terapêuticas tendo em conta o risco de ambos os procedimentos invasivos. Uma abordagem eficiente e standardizada pela Heart Team deve ser estimulada, necessitando de reavaliação continua. Keywords: Severe aortic stenosis, Transcatheter aortic valve implantation, Surgical aortic valve replacement, Heart team, Standardization, Palavras-chave: Estenose aórtica grave, Válvula aórtica percutânea, Substituição valvular aórtica cirúrgica, Heart Team, Standardização

Introduction and Objectives: The role of endothelial dysfunction (ED) in patients with ST-elevation myocardial infarction (STEMI) is poorly understood. Peripheral arterial tonometry (PAT) allows non-invasive evaluation of ED, but has never been used for this purpose early after primary percutaneous coronary intervention (P-PCI). Our purpose was to analyze the relation between ED assessed by PAT and both the presence of microvascular obstruction (MVO) and infarct extension in STEMI patients. Methods: ED was assessed by the reactive hyperemia index (RHI), measured by PAT and defined as RHI

Converting assemblages of marine protected areas (MPAs) into functional MPA networks requires political will, multidisciplinary information, coordinated action and time. We developed a new framework to assist planning environmental representativity in a network across the marine space of Portugal, responding to a political commitment to protect 14% of its area by 2020. An aggregate conservation value was estimated for each of the 27 habitats identified, from intertidal waters to the deep sea. This value was based on expert-judgment scoring for environmental properties and features relevant for conservation, chosen to reflect the strategic objectives of the network, thus providing an objective link between conservation commitments and habitat representativity in space. Additionally, habitats' vulnerability to existing anthropogenic pressures and sensitivity to climate change were also scored. The area coverage of each habitat in Portugal and within existing MPAs (regionally and nationally) was assigned to a scale of five orders of magnitude (from 10%) to assess rarity and existing representation. Aggregate conservation value per habitat was negatively correlated with area coverage, positively correlated with vulnerability and was not correlated with sensitivity. The proposed framework offers a multi-dimensional support tool for MPA network development, in particular regarding the prioritization of new habitats to protect, when the goal is to achieve specific targets while ensuring representativity across large areas and complex habitat mosaics. It requires less information and computation effort in comparison to more quantitative approaches, while still providing an objective instrument to scrutinize progress on the implementation of politically set conservation targets. Keywords: Habitat diversity, Conservation value, Planning framework, Temperate North-east Atlantic and Macaronesia, Iberian margin and shelf, Portugal

We report a case of sarcoidosis with an unusual presentation, initially manifesting as bilateral pulmonary embolism and then as a cardiac form of the disease with an ominous clinical event consisting of sustained ventricular tachycardia. The diagnosis was established by clinical and magnetic resonance criteria despite normal conventional echocardiographic study. Detailed functional assessment provided by tracking techniques (speckle tracking echocardiography and cardiac magnetic resonance tissue tracking) enabled the detection of regional deformation abnormalities, indicating prominent circumferential strain and epicardial layer alterations, partly matching the structural changes depicted by distribution of delayed enhancement.We find this case notable for various issues it raises concerning diagnosis and management of cardiac sarcoidosis. These are mainly related to recent developments in imaging modalities that enable non-invasive identification of structural and functional abnormalities in this condition early, before overt deterioration in left ventricular ejection fraction. Information from different imaging modalities and tools provide information that could potentially assist preclinical diagnosis, with possible prognostic implications. Resumo: Apresenta-se o caso de um doente de 44 anos com o diagnóstico prévio de sarcoidose pulmonar, admitido consecutivamente no serviço de urgência por embolia pulmonar e taquicardia ventricular sintomática. Embora o estudo ecocardiográfico mostrasse normal fração de ejeção ventricular esquerda, o diagnóstico de sarcoidose cardíaca foi estabelecido por elementos de ordem clínica, em conjugação com os achados de ressonância magnética cardíaca. Quando se efetuou estudo funcional detalhado do ventrículo esquerdo por speckle (ecocardiografia) e tissue tracking (ressonância magnética), detetaram-se alterações regionais da deformação miocárdica, parcialmente coincidentes com a distribuição do realce tardio por ressonância. Para além da apresentação pouco habitual sob a forma de evento embólico, este caso de sarcoidose com subsequente documentação de envolvimento cardíaco, permitiu a aplicação de modalidades de imagem cardiovascular avançadas, colocou em evidência a afeção estrutural e funcional miocárdica, na presença de normal fração de ejeção ventricular esquerda. Keywords: Cardiac sarcoidosis, Pulmonary embolism, Speckle tracking, Tissue tracking, Palavras-chave: Sarcoidose cardíaca, Embolia pulmonary, Speckle tracking, Tissue tracking

Pericardial cysts are rare and generally benign intrathoracic lesions, most frequently located in the cardiophrenic angles, but other locations have been described. We present a case of a pericardial cyst in a previously undescribed site. Our patient presented with a cyst in the interventricular septum which was discovered as an incidental finding. After surgical excision of the cyst, it was described pathologically as a simple mesothelial pericardial cyst. The explanation of this rare condition is uncertain, but some hypotheses can be outlined. Resumo: Os cistos pericárdicos são lesões intratorácicas raras e geralmente benignas, mais frequentemente localizadas nos ângulos cardiofrénicos, no entanto, outras localizações têm sido descritas. Apresentamos o caso de um cisto pericárdico num local não descrito previamente. O nosso doente apresentou-se com um cisto no septo interventricular que foi detetado como achado incidental. Após a excisão cirúrgica do cisto, este foi descrito anatomopatologicamente como um cisto pericárdico mesotelial simples. A explicação para esta localização incomum é incerta, mas algumas hipóteses podem ser delineadas. Keywords: Pericardial cyst, Echocardiography, Magnetic resonance imaging, Pathology, Palavras-chave: Cisto pericárdico, Ecocardiograma, Ressonância magnética, Patologia

Transcatheter aortic valve implantation (TAVI) has become an important treatment in high surgical risk patients with severe aortic stenosis (AS), whose complications need to be managed promptly.The authors report the case of an 86-year-old woman presenting with severe symptomatic AS, rejected for surgery due to advanced age and comorbidities. The patient underwent a first TAVI, with implantation of a Medtronic CoreValve®, which became dislodged and migrated to the ascending aorta. Due to the previous balloon valvuloplasty, the patient's AS became moderate, and her symptoms improved. After several months, she required another intervention, performed with a St. Jude Portico® repositionable self-expanding transcatheter aortic valve. There was a good clinical response that was maintained at one-year follow-up.The use of a self-expanding transcatheter bioprosthesis with repositioning features is a solution in cases of valve dislocation to avoid suboptimal positioning of a second implant, especially when the two valves have to be positioned overlapping or partially overlapping each other. Resumo: A implantação de válvula aórtica percutânea (VAP) tornou-se um procedimento importante no tratamento de doentes com estenose aórtica grave com elevado risco cirúrgico, cujas complicações devem ser avaliadas e tratadas de forma adequada.Os autores relatam o caso de uma doente de 86 anos, com estenose aórtica grave sintomática, recusada para intervenção cirúrgica dada a idade avançada e comorbilidades. A doente foi submetida a uma primeira implantação de VAP com uma válvula Medtronic CoreValve®, a qual sofreu um deslocamento para a aorta ascendente durante o procedimento. Devido à angioplastia de balão previamente efetuada, a estenose aórtica tornou-se moderada, com melhoria da sintomatologia da doente. Vários meses depois, por agravamento clínico, houve necessidade de reintervenção, a qual foi realizada com um sistema reposicionável Portico®. Verificou-se um segundo posicionamento valvular adequado, com boa resposta clínica da doente, que persiste após um ano de follow-up.A utilização de sistemas reposicionáveis de implantação de VAP constitui, atualmente, uma solução em casos de deslocamento da válvula, de forma a evitar uma segunda implantação subótima, sobretudo quando as duas válvulas têm de ficar em sobreposição. Keywords: Severe aortic stenosis, Transcatheter aortic valve implantation complications, Valve dislocation, Palavras-chave: Estenose aórtica grave, Complicações da válvula aórtica percutânea, Deslocamento da válvula

Resumo: Introdução: Os cardioversores‐desfibrilhadores implantáveis (CDI) são ferramentas essenciais na prevenção de morte súbita. Requerem a utilização de acessos transversos com as inerentes complicações. O cardioversor‐desfibrilhador totalmente subcutâneo (CDI‐SC) pode prevenir algumas destas complicações. Objetivo: Avaliação das terapêuticas e complicações associadas ao sistema. População e métodos: Em 23 doentes houve intenção de implantar CDI‐SC. As indicações foram: problemas com acesso vascular, risco de infeção aumentado ou jovens com previsão de prolongado tempo de seguimento. O dispositivo foi implantado em quatro doentes com cardiopatia isquémica, três deles em hemodiálise (dois destes doentes com trombose da veia subclávia). Em cinco jovens com ventrículo esquerdo não compactado, quatro com síndrome de Brugada, três com miocardiopatia arritmogénica do ventrículo direito, um com transposição dos grandes vasos, dois com miocardiopatia dilatada e quatro com miocardiopatia hipertrófica. Resultados: Foi possível a implantação em 21 doentes. Dois doentes não apresentaram screening inicial do ECG de superfície compatível com vetores de desfibrilhação. O tempo médio de implantação foi 77 minutos, sem complicações. Foi efetuado teste de desfibrilhação; num dos doentes foi necessário reposicionar o gerador para obter um limiar aceitável.Num seguimento médio de 14 meses, dez doentes apresentaram choques, sendo que em metade foram apropriados, um apresentou infeção do sistema, um teve necessidade de substituição precoce por perda de telemetria e um morreu por causa não cardíaca. Conclusões: A implantação de CDI‐SC é passível de ser efetuada por cardiologistas, com taxa de sucesso elevada. A experiência inicial parece favorável, mas são necessários estudos adicionais com tempos de seguimento mais longos para avaliar a segurança e eficácia desta estratégia em comparação com a convencional. Abstract: Background: Implantable cardioverter‐defibrillators (ICDs) are important tools in the prevention of sudden death, but implantation requires transvenous access, which is associated with complications. Subcutaneous implantable cardioverter‐defibrillators (S‐ICDs) may prevent some of these complications. Aim: To evaluate the therapeutics and complications associated with S‐ICD systems. Methods: S‐ICD implantation was planned in 23 patients, for whom the indications were vascular access problems, increased risk of infection or young patients with long predicted follow‐up. The population consisted of four patients with ischemic heart disease, three of them on hemodialysis (two with subclavian vein thrombosis), five with left ventricular noncompaction, four with Brugada syndrome, three with arrhythmogenic right ventricular cardiomyopathy, one with transposition of the great vessels, two with dilated cardiomyopathy and four with hypertrophic cardiomyopathy. Results: S‐ICDs were implanted in 21 patients, two having failed to fulfil the initial screening criteria. Mean implantation time was 77 minutes, with no complications. Defibrillation tests were performed, and in one patient the generator had to be repositioned to obtain an acceptable threshold.In a mean follow‐up of 14 months, 10 patients had S‐ICD shocks, which were appropriate in half of them; one developed infection, one needed early replacement due to loss of telemetry and one patient died of noncardiac cause. Conclusions: S‐ICD implantation can be performed by cardiologists with a high success rate. Initial experience appears favorable, but further studies are needed with longer follow‐up times to assess the safety and efficacy of this strategy compared to conventional devices. Palavras‐chave: Taquicardia ventricular, Fibrilhação ventricular, Cardioversor‐desfibrilhador implantável, Keywords: Ventricular tachycardia, Ventricular fibrillation, Implantable cardioverter‐defibrillator

Resumo: Introdução: Os circuitos de reentrada da taquicardia ventricular envolvem, por vezes, não só o endocárdio, mas também o epicárdio. A ablação de taquicardia ventricular por via epicárdica pode ser útil nessas situações. Objetivo: O objetivo do estudo consistiu em avaliar a eficácia, segurança e complicações de uma série de doentes consecutivos submetidos a ablação de arritmias ventriculares com mapeamento por via epicárdica. População e métodos: Foram incluídos no estudo todos os doentes submetidos a ablação de taquicardia ventricular com mapeamento por via epicárdica desde 2004 até 2012. De um total de 95 ablações, em nove doentes foi tentada a via epicárdica, oito do sexo masculino com 58 ± 12 anos. Todos os doentes tinham sido previamente submetidos ou realizaram concomitantemente mapeamento endocárdico. A etiologia da arritmia era não isquémica em oito doentes e isquémica num. Comparou‐se o número de eventos nos seis meses anteriores ao procedimento epicárdico com os seis meses seguintes. Resultados: O acesso epicárdico foi conseguido em oito doentes por via percutânea subxifoideia. Num caso não foi possível abordagem epicárdica por presença de aderências. Em nenhum dos doentes o procedimento foi repetido e não se verificaram complicações major no período intra‐hospitalar. Num seguimento médio de 3,5 ± 1,2 anos registou‐se um acidente vascular cerebral num doente, não se registando outras complicações a médio/longo prazo, tendo a maioria dos doentes diminuído o número de episódios de taquicardia ventricular após ablação. Conclusões: A ablação de taquicardia ventricular por via epicárdica foi utilizada eficazmente na diminuição da morbilidade em oito doentes com baixo risco de complicações a médio/longo prazo. Abstract: Introduction: Reentrant circuits of ventricular tachycardia may involve not only the endocardium but also the epicardium. Epicardial ablation can be useful in these situations. Objective: The aim of this study was to assess efficacy, safety and complications in a series of consecutive patients who underwent ablation of ventricular tachycardia with epicardial mapping. Methods: The study included all patients undergoing ventricular tachycardia ablation with epicardial mapping from 2004 to 2012. Of a total of 95 ablations, an epicardial approach was attempted in nine patients, eight male, mean age 58±12 years. Endocardial mapping was performed in all patients previously or simultaneously. The etiology of the arrhythmia was non‐ischemic in eight patients and ischemic in one. We compared the number of events in the six months prior to the epicardial procedure and six months after. Results: Percutaneous epicardial access was achieved in eight patients. In one case it was not possible due to the presence of adhesions. In none of the patients was the procedure repeated and there were no major complications during hospitalization. In a mean follow‐up of 3.5±1.2 years, one patient suffered stroke; there were no other medium‐to‐long‐term complications and the number of ventricular tachycardia episodes was reduced in all patients after ablation. Conclusions: Epicardial radiofrequency ablation of ventricular tachycardia was effective in reducing morbidity in eight patients, with a low risk of complications in the short and medium‐to‐long term. Palavras‐chave: Taquicardia ventricular, Mapeamento epicárdico, Ablação por cateter, Keywords: Ventricular tachycardia, Epicardial mapping, Catheter ablation

Resumo: Objetivo: Avaliar as indicações e recomendações clínicas sobre a implantação de válvulas aórticas percutâneas (VAP) e propor adaptações para a sua aplicabilidade em Portugal. Métodos e resultados: O grupo de trabalho analisou a epidemiologia da estenose aórtica, avaliou as recomendações clínicas existentes à luz da evidência científica conhecida e baseou-se na sua experiência em Portugal.A evidência demonstra que as biopróteses valvulares percutâneas reduzem de forma muito significativa a mortalidade dos doentes com estenose aórtica grave considerados inoperáveis. Comparada com a cirurgia convencional, esta técnica apresenta um padrão comparável de segurança, de eficácia e de melhoria da qualidade de vida em doentes de elevado risco cirúrgico, devidamente selecionados por equipas multidisciplinares. Porém há preocupações relativamente à sua durabilidade e segurança a longo prazo.De forma a ser proficiente, a implantação de válvulas aórticas percutâneas deve ser realizada no âmbito de programas multidisciplinares integrados desenvolvidos em centros médico-cirúrgicos com equipas experientes, em número não inferior a 50 casos por centro/ano.Em Portugal observa-se uma utilização muito reduzida desta terapêutica, com sete implantes/ano por milhão de habitantes, o que corresponde a cerca de sete vezes menos do que a média europeia, constituindo a taxa mais baixa da mesma.Para a sociedade, é necessário avaliar os resultados clínicos e estudar o custo incremental associado para definir quais as indicações em que esta técnica pode e deve ser selecionada. Conclusão: A implantação transcatéter de válvulas aórticas percutâneas constitui a única terapêutica para doentes inoperáveis portadores de estenose aórtica grave. Em casos selecionados pode ser aplicada também em doentes considerados de alto risco cirúrgico.Os doentes candidatos a este tratamento devem ser avaliados em centros de excelência que realizam estas técnicas e possuam um programa formal de funcionamento com uma equipa multidisciplinar. Esta deve ser assessorada nos primeiros casos, até estar rotinada. O programa deve assegurar o mínimo recomendado de casos anuais para manter a sua proficiência, elaborando um registo prospetivo monitorizável. Abstract: Objective: To evaluate the clinical indications and guidelines for transcatheter aortic valve implantation (TAVI) and to propose adaptations for its use in Portugal. Methods and Results: The working group analyzed the epidemiology of aortic stenosis and current clinical recommendations in the light of current evidence, taking into consideration their own experience in Portugal.The evidence shows that TAVI significantly reduces mortality in patients with severe aortic stenosis considered unsuitable for surgery. This technique has a comparable safety profile, efficacy and quality of life improvement to conventional surgery in patients with high surgical risk, when carefully selected by multidisciplinary teams.TAVI procedures should be performed within multidisciplinary programs in centers with on-site cardiac surgery by experienced teams treating no fewer than 50 cases per year in order to maintain proficiency.The technique is little used in Portugal, with seven implantations/year per million population, a seventh of the European average and the lowest rate in Europe.From a societal standpoint, it is important to evaluate clinical outcomes and analyze the incremental cost involved in order to define the situations in which the technique is appropriate and should be used. Conclusion: TAVI is the only treatment for severe aortic stenosis in patients unsuitable for surgery, and can also be applied in selected cases with high surgical risk.Patients who are considered for this treatment should be evaluated in centers of excellence performing the technique and with a formal program of multidisciplinary team work. The first cases should be supervised until the team has established its routine. The program should perform the recommended minimum number of procedures per year in order to maintain proficiency and must keep a prospective clinical registry for monitoring purposes. Palavras-chave: Estenose aórtica, Válvulas aórticas percutâneas transcatéter, Recomendações, Consenso, Peritos, Grupo de trabalho, Keywords: Aortic stenosis, Transcatheter aortic valve implantation, Recomendations, Consensus, Experts, Working group

Resumo: Os autores descrevem o caso de um doente do sexo masculino, de 59 anos, hipertenso, ex-fumador, insuficiente renal crónico em hemodiálise, com antecedentes de endoprótese por aneurisma da aorta abdominal e história de tuberculose miliar no passado, a quem é diagnosticado pericardite constritiva e aneurisma da aorta torácica. Num doente com antecedentes patológicos tão diversos, são várias as etiologias a considerar. O tratamento consistiu numa pericardiectomia e numa técnica híbrida de debranching dos ramos supra-aórticos com posterior implantação de endoprótese aórtica. Abstract: The authors describe the case of a 59-year-old man, a former smoker, with hypertension, chronic renal failure undergoing hemodialysis, and a history of stent grafting for repair of an abdominal aortic aneurysm and miliary tuberculosis, who was diagnosed with constrictive pericarditis and a thoracic aortic aneurysm. In a patient with such a complex medical history, there were several etiologies to consider. The treatment consisted of pericardiectomy and a hybrid technique of supra-aortic debranching and subsequent endovascular stent-graft repair. Palavras-chave: Pericardite constritiva, Aneurisma aórtico, Debranching aórtico, Keywords: Constrictive pericarditis, Aortic aneurysm, Aortic debranching

Recurrence of cardiac myxoma is a rare condition, observed in about 3% of patients in sporadic cases, although it is more frequent in familial ones.Several mechanisms have been proposed to explain such recurrence, and the importance of increased vascularization as a facilitating feature is the subject of debate.The authors report the case of a non-familial right atrial myxoma, unusual for both its histopathology and recurrence. Resumo: A recorrência de mixomas cardíacos é rara, acontecendo em cerca de 3% dos doentes com mixomas esporádicos, embora seja mais frequente nos casos familiares.Vários mecanismos foram propostos para explicar as recorrências e a importância da vascularização aumentada como fenómeno facilitador é controversa.Os autores descrevem o caso de um mixoma esporádico do coração direito, peculiar pelas suas características histológicas e recorrência. Keywords: Right atrial myxoma, Recurrent cardiac myxoma, Palavras-chave: Mixoma do coração direito, Mixoma recorrente

Resumo: Um dos obstáculos a uma utilização mais frequente e apropriada da ressonância magnética cardíaca (RMC) em Portugal tem sido a ausência de códigos específicos que descrevam adequadamente os exames tal como são efetuados actualmente. Este documento de consenso fornece recomendações para a atualização e uniformização dos códigos empregues na RMC. São igualmente feitas recomendações quanto às técnicas e códigos a utilizar nas indicações clínicas mais frequentes. Abstract: One of the obstacles to more frequent and appropriate use of cardiac magnetic resonance (CMR) in Portugal has been the lack of specific codes that accurately describe these examinations as they are currently performed. In this consensus document, recommendations are made for updating and standardizing CMR codes in Portugal. Guidance on which techniques and codes should be used in the most common clinical scenarios is also provided. Palavras-chave: Ressonância magnética cardíaca, Codificação, Consenso, Keywords: Cardiac magnetic resonance, Coding, Consensus

Resumo: O pseudoaneurisma do ventrículo esquerdo é uma complicação rara do enfarte agudo do miocárdio, associada a elevada mortalidade. No entanto, pode manifestar‐se de modo inespecífico, dificultando e atrasando o seu diagnóstico.Os autores apresentam o caso de um doente de 65 anos, hipertenso, sem outros antecedentes relevantes conhecidos, em que toracalgia, tosse e derrame pleural esquerdo, inicialmente atribuídas a um processo pneumológico, foram as manifestações de um pseudoaneurisma do ventrículo esquerdo, após enfarte agudo do miocárdio silencioso. O diagnóstico foi suspeitado por ecocardiografia, confirmado por ressonância magnética cardíaca e o doente foi submetido a cirurgia de reparação do pseudoaneurisma com sucesso.Este caso ilustra uma forma de apresentação atípica de um pseudoaneurisma do ventrículo esquerdo, em que as manifestações resultaram da extensão pericárdico‐pleural do processo inflamatório associada à rotura miocárdica contida. O caso demonstra a necessidade de suspeitar o diagnóstico e o valor dos vários exames de imagem para a confirmação do mesmo, de modo a possibilitar a terapêutica cirúrgica adequada e assim modificar o curso da doença. Abstract: Left ventricular pseudoaneurysm is a rare complication of acute myocardial infarction, associated with high mortality. However, it can present in a non‐specific manner, complicating and delaying the diagnosis.The authors present the case of a 65‐year‐old patient, hypertensive, with no other known relevant medical history, who presented with chest pain, cough and left pleural effusion, initially attributed to a pulmonary process. However, these were in fact the result of a left ventricular pseudoaneurysm following silent acute myocardial infarction. The diagnosis was suspected on echocardiography and confirmed by cardiac magnetic resonance imaging, and the patient underwent successful surgical pseudoaneurysm repair.This case illustrates an atypical presentation of a left ventricular pseudoaneurysm, in which the manifestations resulted from pericardial and pleural extension of the inflammatory process associated with contained myocardial rupture. The case demonstrates the need for a high index of suspicion, and the value of imaging techniques to confirm it, in order to proceed with appropriate surgical treatment, and thus modify the course of the disease. Palavras‐chave: Pseudoaneurisma do ventrículo esquerdo, Ecocardiografia, Ressonância magnética cardíaca, Keywords: Left ventricular pseudoaneurysm, Echocardiography, Cardiac magnetic resonance

Resumo: Introdução: Segundo as recomendações atuais para o tratamento do enfarte agudo do miocárdio com supra-desnivelamento do segmento ST a intervenção coronária percutânea deve ser efetuada dentro de 90 min após o primeiro contacto médico e o tempo total de isquémia não deve exceder os 120 min.O objetivo deste trabalho foi analisar a adequação da implementação destas recomendações para o enfarte do miocárdio com supra-desnivelamento do segmento ST num centro terciário de intervenção coronária percutânea. Métodos: Registo prospetivo de centro único de 223 doentes consecutivos referenciados para intervenção coronária percutânea primária entre 2003 e 2007. Resultados: Nesta população (idade média 60 ± 12 anos, 76% de sexo masculino), a mediana do tempo total de isquémia foi 4 h 30 min (< 120 min em 4% dos doentes). O intervalo de tempo com menor atraso foi desde o primeiro contacto médico até à realização do ECG (mediana 8 min,

Resumo: Introdução: A miocardite viral pode cursar com insuficiência cardíaca refratária à medicação. Nestes casos, a assistência ventricular externa é uma alternativa que pode ser usada como ponte para transplante ou para recuperação. Descrevemos o primeiro caso em Portugal de recuperação da função ventricular após assistência ventricular por miocardite grave. Caso clínico: Apresentamos o caso de uma criança de 5 anos, sexo masculino, sem doença cardíaca prévia, com miocardite viral grave, insuficiência cardíaca refratária à medicação e serologias positivas para Parvovírus B19 e vírus Ebstein-Barr. Foi implantado o Berlin Heart Excor® 15 dias após o diagnóstico. A biopsia cardíaca, na altura da implantação, mostrava áreas de fibrose subendocárdica. Verificou-se recuperação da função miocárdica, tendo sido retirada a assistência ventricular após 40 dias da implantação. O doente teve alta 15 dias depois. Discussão: A sobrevida das crianças em assistência ventricular tem vindo a melhorar significativamente, devido ao planeamento atempado e à otimização da anticoagulação. A presença de fibrose subendocárdica no contexto de miocardite não constitui uma indicação formal para transplante. Abstract: Introduction: Viral myocarditis can lead to heart failure that is refractory to medication. In these cases, a ventricular assist device is a good therapeutic option that can be used as a bridge to transplantation or recovery. We describe the first case in Portugal of recovery with ventricular assistance after severe myocarditis. Case report: A five-year-old boy with no previous cardiac disease presented with severe viral myocarditis, refractory to medical treatment, with positive serology for parvovirus B19 and Ebstein-Barr virus. A Berlin Heart Excor® was implanted 15 days after diagnosis. A biopsy at the time of implantation showed subendocardial fibrosis. After 40 days of assistance ventricular function recovered and the device was explanted. The patient was discharged from hospital 15 days later. Discussion: Survival of children with ventricular assistance has improved significantly because of earlier implantation and coagulation monitoring. The presence of subendocardial fibrosis in the context of myocarditis is not a mandatory indication for transplantation. Palavras-chave: Assistência ventricular externa, Berlin Heart Excor®, Insuficiência cardíaca, Miocardite viral, Keywords: Assisted circulation, Circulatory assist devices, Heart failure, Viral myocarditis

Resumo: A doença de Kawasaki (DK) é uma vasculite sistémica, de etiologia desconhecida, constituindo a principal causa de cardiopatia adquirida em idade pediátrica em países desenvolvidos. As principais complicações resultam do aparecimento de aneurismas coronários que podem evoluir para doença coronária isquémica.Apresenta-se o caso clínico de um adolescente com diagnóstico de DK aos 7 anos. Efetuou terapêutica com imunoglobulina e ácido acetilsalicílico e a avaliação ecocardiográfica na fase aguda foi aparentemente normal. Aos 11 anos de idade desenvolveu quadro de angor e dispneia de esforço. A cintigrafia de perfusão miocárdica com prova de esforço revelou hipoperfusão dos territórios correspondentes às artérias descendente anterior esquerda (DA) e coronária direita (CD). O cateterismo cardíaco demonstrou oclusão dos segmentos proximais de ambas as artérias. Foi submetido a cirurgia de revascularização coronária (artéria mamária interna para a DA e veia safena interna para a CD) com boa evolução clínica e desaparecimento das alterações isquémicas na cintigrafia.Este caso clínico vem alertar para a importância do diagnóstico e terapêutica atempados e seguimento posterior na DK, salientando-se a potencial gravidade das complicações cardiovasculares a longo prazo desta doença pediátrica. Abstract: Kawasaki disease (KD) is a systemic vasculitis of unknown etiology, which is the main cause of acquired heart disease in children in developed countries. The main complications result from the development of coronary aneurysms which can lead to ischemic heart disease.We present the case of a teenage boy with a diagnosis of KD at the age of seven. He was treated with gammaglobulin and aspirin and echocardiographic evaluation in the acute phase was apparently normal. At the age of eleven, he developed chest pain and exertional dyspnea. Nuclear perfusion scans with exercise revealed hypoperfusion of the left anterior descending (LAD) and right coronary (RC) artery territories. Cardiac catheterization showed occlusion of the proximal segments of both arteries. He underwent coronary artery bypass graft surgery (internal mammary artery bypass graft to the LAD artery and saphenous vein graft to the RC artery), with a good clinical result.This case report highlights the importance of early diagnosis and treatment of KD and regular cardiological follow-up, bearing in mind the potential late complications of this pediatric disease. Palavras-chave: Doença de Kawasaki, Aneurismas coronários, Cirurgia de revascularização coronária, Keywords: Kawasaki disease, Coronary aneurysm, Coronary artery bypass

Resumo: A endocardite infecciosa é uma doença cuja mortalidade, apesar das opções terapêuticas médicas e cirúrgicas existentes, se mantém elevada. A intervenção cirúrgica está indicada em casos de insuficiência cardíaca diretamente relacionada com a disfunção valvular, infecção não controlada e, por vezes, na prevenção de fenómenos embólicos. Os autores descrevem o caso de um doente de 56 anos, com doença degenerativa mitroaórtica, esplenectomizado e com linfoma de Hodgkin recentemente recidivado, internado por endocardite infecciosa a Streptococcus dysgalactiae. Ao trigésimo dia de antibioticoterapia dirigida verificou-se um aumento significativo do volume e mobilidade da vegetação mitral, tendo sido equacionada a opção cirúrgica. No entanto, e dada a estabilidade clínica e analítica do doente, optou-se por uma atitude conservadora com prolongamento da antibioticoterapia. Foi constatada regressão franca da vegetação sete dias depois. Dado o comportamento atípico da vegetação com regressão mais lenta que o habitual para o agente em causa, os autores sugerem que, em doentes com algum grau de imunocompromisso, a antibioticoterapia deva ser mais prolongada. Abstract: Infective endocarditis continues to be associated with high mortality, despite the medical and surgical therapeutic options available. Surgical intervention is indicated in cases of heart failure or uncontrolled infection and sometimes for the prevention of embolic phenomena. The authors present the case of a 56-year-old male patient, with fibro-calcific mitral-aortic valve disease, splenectomized and with recently relapsed Hodgkin's lymphoma, who was admitted with infective endocarditis due to Streptococcus dysgalactiae. On the thirtieth day of directed antibiotic therapy, the mitral vegetation showed a significant increase in size and mobility. Surgery was considered at this point. However, given the patient's clinical stability and laboratory results, it was decided to adopt a conservative approach and to extend antibiotic therapy. The vegetation had regressed considerably seven days later. Given this atypical vegetation behavior, with slower than usual regression for the causative agent, the authors suggest that antibiotic therapy should be extended in patients with some degree of immunosuppression. Palavras-chave: Endocardite infecciosa, Imunossupressão, Streptococcus dysgalactiae, Indicações cirúrgicas, Risco embólico, Keywords: Infective endocarditis, Immunosuppression, Streptococcus dysgalactiae, Surgical indications, Embolic risk

Resumo: Introdução: O tromboembolismo pulmonar (TEP) é uma entidade responsável por elevada morbi-mortalidade, na qual a estratificação de risco assume um papel fulcral. A porção N-terminal do péptido natriurético tipo B (NT-proBNP), marcador de disfunção ventricular direita, poderá ser um biomarcador útil na avaliação prognóstica a curto prazo dos doentes com TEP. Objectivos: Caracterizar uma amostra de doentes internados com TEP agudo de acordo com o valor sérico de NT-proBNP à data da admissão hospitalar e avaliar o impacto deste biomarcador na evolução a curto prazo. Metodologia: Análise retrospectiva de doentes admitidos consecutivamente por TEP, durante 3,5 anos. De acordo com o valor da mediana do NT-proBNP doseado à data da admissão hospitalar, subdividimos os doentes em dois grupos (Grupo 1: NT-proBNP

Introduction: Primary percutaneous coronary intervention (PPCI) has become the treatment of choice in patients with ST-segment elevation myocardial infarction (STEMI). Drug-eluting stents (DES) reduce restenosis compared to bare-metal stents (BMS) but there is conflicting data concerning their use in the setting of STEMI. We aimed to evaluate the influence of the type of stent on the outcomes of PPCI. Methods: This was a single-center longitudinal study including 213 consecutive patients (76% men, mean age 60±12 years) with STEMI undergoing PPCI between 2003 and 2007, divided into two groups: BMS (43.7%) and DES (56.3%). We assessed clinical and demographic features as well as angiographic and electrocardiographic signs of myocardial reperfusion. The composite outcome of death, myocardial infarction (MI) or target-lesion revascularization (TLR) was evaluated. Results: At a median follow-up of 26 months there were no differences in the composite outcome of death/MI/TLR (BMS 18.3% vs DES 15.8%) or in the incidence of stent thrombosis. Angiographic results of the procedure were also similar. Independent predictors of the composite outcome were age (HR=1.06, 95% CI [1.02-1.11], left anterior descending artery as infarct-related vessel (HR=2.69, 95% CI [1.17-6.19]) and use of glycoprotein IIb/IIIa inhibitors (HR=0.33, 95% CI [0.13-0.83]). Conclusions: There was no benefit in angiographic outcomes or major cardiac events after treatment with drug-eluting stents compared to bare-metal stents in this group of patients with STEMI. Resumo: Introdução: A angioplastia primária (ICPP) é o tratamento de eleição para enfarte agudo do miocárdio com elevação de ST (EAM ST). Os stents farmacológicos (DES) permitem reduzir a taxa de restenose coronária, sendo controverso o seu uso no contexto de EAM ST. O objectivo deste estudo foi avaliar os resultados clínicos da ICPP em função do tipo de stent usado (não revestido versus DES). População e métodos: Estudo longitudinal de centro único, incluindo 213 doentes consecutivos, idade média 60 ± 12 anos, 76% homens, submetidos a ICPP no contexto de EAM ST, entre 2003 e Novembro 2007. Foram considerados 2 grupos: stent não revestidos (BMS) (43,7%) e DES (56,3%). Analisaram-se as características clínicas e demográficas dos 2 grupos, comparando-se também variáveis angiográficas, de perfusão miocárdica, grau de resolução de segmento ST pós-ICPP e pico de troponina. Determinou-se no seguimento a incidência do evento combinado: morte, enfarte do miocárdio (EAM) ou revascularização de lesão alvo (TLR). Resultados: No seguimento mediano de 26 meses não se encontraram diferenças no evento combinado Morte/EAM/TLR (BMS 18,3% versus 15,8%) nem na trombose de stent. Os resultados angiográficos foram também semelhantes. Os preditores independentes de morte/EAM/TLR foram a frequência cardíaca (HR = 1.06 95% IC [1.02-1.11], descendente anterior como vaso culprit (HR = 2.69 95% IC [1.17-6.19]) e utilização de inibidores da glicoproteína IIbIIIa (HR = 0.33 95% IC [0.13-0.83]). Conclusão: O tipo de stent utilizado não parece ter influência na ocorrência de eventos cardíacos em doentes submetidos a angioplastia primária, no contexto de EAM ST. Keywords: Stents, Myocardial infarction, Percutaneous coronary intervention, Coronary disease/therapy, Palavras-chave: Stents, Enfarte do miocárdio, Intervenção coronária percutânea, Doença coronária/terapêutica