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Case report A 35-year-old man was admitted following a recovered cardiorespiratory arrest. He was attacked by another man with multiples blunts by a wood stick in the chest and head. An eyewitness statement indicated that the victim had lost consciousness and collapsed after being hit in the chest. He was in cardiac arrest, and a nearby healthcare professional provided first aid with cardiopulmonary resuscitation. The first electrocardiogram (ECG) rhythm strip, fifteen minutes later, identified ventricular fibrillation (VF) (). Sixteen electrical [...]

Funding Acknowledgements Type of funding sources: None. INTRODUCTION Implantable loop recorders (ILR) are a powerful diagnostic tool for heart rhythm diseases, and particularly useful when symptoms are infrequent or when long-term data are required. The main indication is for study of syncope/presyncope due to suspected cardioinhibitory etiology. OBJECTIVE To evaluate the diagnostic profitability of ILR in patient (P) with syncope/ presyncope and to evaluate the effect of symptons on follow-up. METHODS Included P undergoing ILR implantation in 6 consecutive years, to study syncope/presyncope. Information was collected on P characteristics, indication, diagnostic outcome and subsequent management and complications. A follow-up (FU) of 1 year and 3 years were done. Diagnostic outcome was based in symptom-rhythm correlation. Symptons and correlation to ECG during the FU and management after the diagnosis were assessed. RESULTS 99 P were selected. Evaluation of syncope in 91.9% (n = 91) and presyncope in 8.1% (n = 8). 54.5% female, median age 59.4 ± 17.4 years. 55.8% (n = 53) completed the 3 years FU and 84.2% (n = 80) completed the 1 year FU. Death occurred in 4% (n = 4) during the FU. ILR results led to device implantation in 35% of the P (22 pacemakers and 1 ICD) in 1 year FU, with a median time to implantation of 11.6 months after ILR, and the majority of ILR motivated by syncope (87%). If we consider only P that finished the 3 years of FU, in 47.2% P were implanted a device. The most common arrhythmic finding were AV block (47.8%), followed by sinus pauses / asystole (43.5%), AF with slow ventricular rate (4.3%) and VT (4.3%). 4.9% of P experienced a complication related to the device (2 infection and 3 non-infectious pain), that resulted in explantation. 60.9% of the P were symptomatic during the FU, with 24.1% achieving symptom-rhythm correlation and 36.8% who did not. Device implantation was associated with the presence of symptons in FU (82.6% vs 17.4%, p = 0.012) and symptom-rhythm correlation (95% vs 5%,p = 0.001). 38.7% (n = 27) of the P finished the 3 years of FU without a diagnostic outcome or detectable event, with 44.4% being assymptomatic and 55.6% presenting symptoms without ECG correlation. Compared to the P that implanted a device, this type of P was frequently of female sex (57.6% vs 30.4%, p = 0.045), younger age (54.8 ± 18.1 vs 65.8 ± 12.8 years, p = 0.014), with less cardiovascular risk factors like dyslipidemia (37.0% vs 78.3%, p = 0.003) and arterial hypertension (48.1% vs 73.9%, p = 0.05), AF (0% vs 19%, p = 0.025), previous history of myocardial infarction and percutaneous coronary intervention (3.2% vs 17.4%, p = 0.05; 3.0% vs 21.7%, p = 0.028) and more frequently with history of depression (51.9% vs 22.7%, p = 0.037). CONCLUSION In this study, ILR monitoring led to a device implantation in 47.2% of the P that finished the 3 years FU. The presence of symptons and symptom-rhythm correlation during FU was associated with device implantation.

Introduction and Objectives: The aim of this study was to assess the impact of a conservative strategy in non-ST-segment elevation myocardial infarction in patients in the Portuguese Registry of Acute Coronary Syndromes. Methods: The 3780 patients included in the study over a three-year period were divided into three groups: group 1, patients treated by a conservative strategy during hospitalization; group 2, patients who underwent coronary angiography without percutaneous coronary intervention (PCI); and group 3, patients who underwent PCI. Clinical and procedural data and in-hospital complications were compared. The primary endpoint was defined as in-hospital or one-year mortality and the secondary endpoint as the presence of at least one of the following in-hospital complications: major bleeding according to the GUSTO criteria, need for blood transfusion, invasive ventilation, heart failure or reinfarction. Results: Of the patients analyzed, 16.5% were treated by a conservative strategy. Patients in this group were older, more often women, and had more high-risk factors. A conservative strategy was associated with a higher rate of the primary endpoint – in-hospital mortality (10.6% vs. 1.1% vs. 0.6% in groups 1, 2 and 3, respectively, p

Resumo: Os autores apresentam um raro caso de miocardiopatia hipertrófica (MCH) associada a ventrículo esquerdo não compactado (VENC) e fístulas das artérias coronárias para o ventrículo esquerdo (VE) numa doente de 42 anos, que se apresenta com enfarte agudo do miocárdio sem elevação do segmento ST (EAMSEST). A coronariografia, a ecocardiografia transtorácica (ETT) e ressonância magnética cardíaca (RMC) revelaram as alterações estruturais do VE e da árvore coronária. Abstract: The authors present a rare case of hypertrophic cardiomyopathy associated with left ventricular noncompaction cardiomyopathy and coronary artery-left ventricular fistulae in a 42-year-old woman presenting with non-ST-elevation myocardial infarction. Coronary angiography, transthoracic echocardiography and cardiac magnetic resonance revealed the structural abnormalities of the left ventricle and the coronary tree. Palavras-chave: Miocardiopatia hipertrófica, Ventrículo esquerdo não compactado, Fístula coronário-ventricular, Enfarte do miocárdio embólico, Recesso intramiocárdico, Mutação genética, Keywords: Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Coronary artery-left ventricular fistulae, Embolic myocardial infarction, Intramyocardial recess, Genetic mutation

The authors present a rare case of hypertrophic cardiomyopathy associated with left ventricular noncompaction cardiomyopathy and coronary artery-left ventricular fistulae in a 42-year-old woman presenting with non-ST-elevation myocardial infarction. Coronary angiography, transthoracic echocardiography and cardiac magnetic resonance revealed the structural abnormalities of the left ventricle and the coronary tree. Resumo: Os autores apresentam um raro caso de miocardiopatia hipertrófica (MCH) associada a ventrículo esquerdo não compactado (VENC) e fístulas das artérias coronárias para o ventrículo esquerdo (VE) numa doente de 42 anos, que se apresenta com enfarte agudo do miocárdio sem elevação do segmento ST (EAMSEST). A coronariografia, a ecocardiografia transtorácica (ETT) e ressonância magnética cardíaca (RMC) revelaram as alterações estruturais do VE e da árvore coronária. Keywords: Hypertrophic cardiomyopathy, Left ventricular noncompaction cardiomyopathy, Coronary artery-left ventricular fistulae, Embolic myocardial infarction, Intramyocardial recess, Genetic mutation, Palavras-chave: Miocardiopatia hipertrófica, Ventrículo esquerdo não compactado, Fístula coronário-ventricular, Enfarte do miocárdio embólico, Recesso intramiocárdico, Mutação genética

Resumo: Os autores apresentam dois casos de pericardite purulenta secundária a pneumonia por pneumococos, um deles num doente sem antecedentes patológicos conhecidos. É feita uma sistematização da abordagem diagnóstica ao derrame pericárdico de moderadas dimensões e uma revisão da pericardite purulenta, uma entidade muito rara na era da antibioterapia. A constatação de derrame pericárdico com quadro de febre persistente, com ou sem origem conhecida, fundamentalmente no doente com compromisso imune, mas também no aparentemente saudável, deve levantar-se sempre a possibilidade de pericardite purulenta. Abstract: The authors present two cases of purulent pericarditis secondary to pneumococcus pneumonia, a rare entity in the antibiotic era, one of them in an apparently healthy person. A systematized diagnostic approach to moderate pericardial effusion is presented, together with a review of purulent pericarditis. The presence of pericardial effusion with persistent fever with or without known etiology, particularly in the immunocompromised but also in the apparently healthy patient, should always raise the possibility of purulent pericarditis. Palavras-chave: Pericardite bacteriana, Pericardite purulenta, Derrame pericárdico, Tamponamento, Pneumonia, Keywords: Bacterial pericarditis, Purulent pericarditis, Pericardial effusion, Tamponade, Pneumonia

Left ventricular noncompaction (LVNC) is now recognized as a distinct form of cardiomyopathy with a clinical presentation and natural history of its own. Common manifestations of LVNC include heart failure, ventricular arrhythmias and embolic events, but serious atrioventricular conduction disturbances are rarely reported in the literature. The authors describe the case of a 40-year-old woman who went to the emergency department due to syncope. The ECG revealed left bundle branch block (LBBB) and 2:1 atrioventricular block (AVB) and the patient was admitted for pacemaker implantation. During hospitalization she developed torsade de pointes and complete AVB with increased QTc. The echocardiogram showed images compatible with LVNC. This case provides additional evidence that LVNC may be complicated by 2:1 (or complete) AVB, intraventricular conduction disturbances (LBBB) and repolarization abnormalities (long QT). This combination of electrocardiographic changes has rarely been reported in the literature. We describe a series of affected patients, focusing on electrocardiographic characteristics. Resumo: O ventrículo esquerdo não compactado (VENC) tem sido reconhecido como uma forma distinta de miocardiopatia com uma apresentação clínica e história natural próprias. As manifestações comuns de VENC são insuficiência cardíaca, arritmias ventriculares e eventos embólicos. A presença de perturbações da condução auriculoventricular de maior gravidade encontra-se raramente descrita na literatura. Os autores descrevem o caso clínico de uma paciente com 40 anos de idade, que recorreu ao Serviço de Urgência por síncope. O ECG revelou bloqueio completo de ramo esquerdo do feixe de His e bloqueio auriculoventricular (BAV) 2:1, tendo sido internada para implantação de pacemaker. Durante o internamento, desenvolve fenómenos de torsade de pointes e de BAV completo com aumento do intervalo QTc. O ecocardiograma revelou imagens compatíveis com VENC. Com este caso, os autores fornecem evidência adicional de que a presença de VENC pode ser complicada por BAV 2:1 (ou completo), perturbações da condução intraventricular (BCRE) e da repolarização (QT longo), alterações eletrocardiográficas concomitantes pouco descritas na literatura. Descreve-se uma série de pacientes afetados, com foco nas características eletrocardiográficas. Keywords: Left ventricular noncompaction, Atrioventricular block, Torsade de pointes, Palavras-chave: Ventrículo esquerdo não compactado, Bloqueio auriculoventricular, Torsade de pointes

Resumo: O ventrículo esquerdo não compactado (VENC) tem sido reconhecido como uma forma distinta de miocardiopatia com uma apresentação clínica e história natural próprias. As manifestações comuns de VENC são insuficiência cardíaca, arritmias ventriculares e eventos embólicos. A presença de perturbações da condução auriculoventricular de maior gravidade encontra-se raramente descrita na literatura. Os autores descrevem o caso clínico de uma paciente com 40 anos de idade, que recorreu ao Serviço de Urgência por síncope. O ECG revelou bloqueio completo de ramo esquerdo do feixe de His e bloqueio auriculoventricular (BAV) 2:1, tendo sido internada para implantação de pacemaker. Durante o internamento, desenvolve fenómenos de torsade de pointes e de BAV completo com aumento do intervalo QTc. O ecocardiograma revelou imagens compatíveis com VENC. Com este caso, os autores fornecem evidência adicional de que a presença de VENC pode ser complicada por BAV 2:1 (ou completo), perturbações da condução intraventricular (BCRE) e da repolarização (QT longo), alterações eletrocardiográficas concomitantes pouco descritas na literatura. Descreve-se uma série de pacientes afetados, com foco nas características eletrocardiográficas. Abstract: Left ventricular noncompaction (LVNC) is now recognized as a distinct form of cardiomyopathy with a clinical presentation and natural history of its own. Common manifestations of LVNC include heart failure, ventricular arrhythmias and embolic events, but serious atrioventricular conduction disturbances are rarely reported in the literature. The authors describe the case of a 40-year-old woman who went to the emergency department due to syncope. The ECG revealed left bundle branch block (LBBB) and 2:1 atrioventricular block (AVB) and the patient was admitted for pacemaker implantation. During hospitalization she developed torsade de pointes and complete AVB with increased QTc. The echocardiogram showed images compatible with LVNC. This case provides additional evidence that LVNC may be complicated by 2:1 (or complete) AVB, intraventricular conduction disturbances (LBBB) and repolarization abnormalities (long QT). This combination of electrocardiographic changes has rarely been reported in the literature. We describe a series of affected patients, focusing on electrocardiographic characteristics. Palavras-chave: Ventrículo esquerdo não compactado, Bloqueio auriculoventricular, Torsade de pointes, Keywords: Left ventricular noncompactation, Atrioventricular block, Torsade de pointes

Background: Heart failure (HF) is a highly prevalent syndrome. Although the long-term prognostic factors have been identified in chronic HF, this information is scarcer with respect to patients with acute HF. despite available data in the literature on long-term prognostic factors in chronic HF, data on acute HF patients are more scarce. Objectives: To develop a predictor of unfavorable prognostic events in patients hospitalized for acute HF syndromes, and to characterize a group at higher risk regarding their clinical characteristics, treatment and outcomes. Methods: cohort study of 600 patients admitted for acute HF, defined according to the European Society of Cardiology criteria. Primary endpoint for score derivation was defined as all-cause mortality and / or rehospitalization for HF at 12 months. For score validation, the following endpoints were used: all-cause mortality and / or readmission for HF at 6, 12 and 24 months. The exclusion criteria were: high output HF; patients with acute myocardial infraction, acute myocarditis, infectious endocarditis, pulmonary infection, pulmonary artery hypertension and severe mitral stenosis. Results: 505 patients were included, and prognostic predicting factors at 12 months were identified. One or two points were assigned according to the odds ratio (OR) obtained (p < 0.05). After the total score value was determined, a 4-point cut-off was determined for each ROC curve at 12 months. Two groups were formed according to the number of points, group A < 4 points, and group B = 4 points. Group B was composed of older patients, with higher number of comorbidities and predictors of the combined endpoint at 6, 12 and 24 months, as linearly represented in the survival curves (Log rank). Conclusions: This risk score enabled the identification of a group with worse prognosis at 12 months. Resumo Fundamento: A insuficiência cardíaca (IC) é uma síndrome de elevada prevalência. Apesar de existir na literatura informação relativa aos fatores prognósticos a longo prazo na IC crônica, esta é mais escassa no que diz respeito aos pacientes com IC aguda. Objetivos: Desenvolver um score preditor de eventos prognósticos desfavoráveis em doentes admitidos com síndromes de IC aguda e caracterizar um grupo de maior risco quanto às suas características clínicas, terapêutica e resultados. Métodos: Estudo de coorte de 600 doentes internados com IC aguda, definida de acordo com os critérios da Sociedade Europeia de Cardiologia. O endpoint primário para a derivação do score foi definido como mortalidade de qualquer causa e/ou reinternação por IC aos 12 meses. Para a validação do score, foram utilizados como endpoints: mortalidade de qualquer causa e/ou reinternação por IC aos 6, 12 e 24 meses. Os critérios de exclusão foram: IC de alto débito, pacientes com infarto agudo do miocárdio, miocardite aguda, endocardite infeciosa, infeção pulmonar, hipertensão arterial pulmonar e estenose mitral grave. Resultados: Foram incluídos 505 doentes e identificados preditores prognósticos aos 12 meses. Atribuíram-se 1 ou 2 pontos (p.) de acordo com os odds ratio (OR) obtidos (p < 0,05). Após a determinação do valor de score total, foi estabelecido um cut-off de 4 pontos por curva ROC. Constituíram-se 2 grupos de acordo com a pontuação, grupo A < 4 p. versus grupo B = 4 p. O grupo B era constituído por idosos, com maior número de comorbidades e preditor de endpoint combinado aos 6, 12 e 24 meses traduzido linearmente nas curvas de sobrevida (Log rank). Conclusões: Este score de risco permitiu identificar um grupo com pior prognóstico aos 12 meses.

Introduction: Pulmonary angiography by computed tomography (CT) is the method of choice for the detection of acute pulmonary embolism (PE). Studies have shown that the severity of PE can be estimated by clot burden scores. Objective: To evaluate the correlation between an angiographic clot burden score (Qanadli score–QS) and parameters of right ventricular dysfunction (RVD) in patients admitted for PE. Methods: We performed a retrospective study of 107 patients (60% female) admitted to an intensive care unit for PE (intermediate/high risk) between January 1, 2007 and September 30, 2011. Images from 16-slice multidetector CT angiography were reviewed in 102 patients and the QS calculated. Based on a cut-off of 18 points established by ROC curve analysis, two groups were formed (A 18 was an independent predictor of RVD (RV/LV ratio >1) (OR: 10.85; p 18 points proved to be an independent predictor of RVD in PE, and correlated linearly with variables associated with higher morbidity and mortality. Resumo: Introdução: A angio-TC pulmonar é o método de escolha para o diagnóstico de tromboembolismo pulmonar (TEP). Estudos têm demonstrado que a gravidade do TEP poderá ser estimada com sistemas de quantificação de carga embólica. Objetivo: Avaliar a correlação entre um score de carga embólica angiográfica (Qanadli score – QS), com os parâmetros de disfunção ventricular direita (DVD), em pacientes com TEP. Métodos: Estudo retrospetivo de 107 pacientes (feminino – 60%), admitidos por TEP (intermédio/elevado risco) numa UCIC (1/1/2007-30/9/2011). Revistas as imagens de angio-TC de 102 pacientes (TCMD-16C) e quantificado o QS. Estabelecido cut-off de 18 pontos por curva ROC. Constituídos 2 grupos (G) (A 18 preditor independente de DVD (VD/VE> 1) (OR:10,85;p 18 pontos revelou-se preditor independente de DVD no TEP, correlacionando-se linearmente com multivariáveis associadas a morbi/mortalidade mais elevada. Keywords: Pulmonary embolism, Clot burden score, Right ventricular dysfunction, Palavras-chave: Tromboembolismo pulmonar, Score de carga embólica, Disfunção ventricular direita

Resumo: Introdução: A angio-TC pulmonar é o método de escolha para o diagnóstico de tromboembolismo pulmonar (TEP). Estudos têm demonstrado que a gravidade do TEP poderá ser estimada com sistemas de quantificação de carga embólica. Objetivo: Avaliar a correlação entre um score de carga embólica angiográfica (Qanadli score – QS), com os parâmetros de disfunção ventricular direita (DVD), em pacientes com TEP. Métodos: Estudo retrospetivo de 107 pacientes (feminino – 60%), admitidos por TEP (intermédio/elevado risco) numa UCIC (1/1/2007-30/9/2011). Revistas as imagens de angio-TC de 102 pacientes (TCMD-16C) e quantificado o QS. Estabelecido cut-off de 18 pontos por curva ROC. Constituídos 2 grupos (G) (A 18 preditor independente de DVD (VD/VE > 1) (OR:10,85; p 18 pontos revelou-se preditor independente de DVD no TEP, correlacionando-se linearmente com multivariáveis associadas a morbi/mortalidade mais elevada. Abstract: Introduction: Pulmonary angiography by computed tomography (CT) is the method of choice for the detection of acute pulmonary embolism (PE). Studies have shown that the severity of PE can be estimated by clot burden scores. Objective: To evaluate the correlation between an angiographic clot burden score (Qanadli score - QS) and parameters of right ventricular dysfunction (RVD) in patients admitted for PE. Methods: We performed a retrospective study of 107 patients (60% female) admitted to an intensive care unit for PE (intermediate/high risk) between January 1, 2007 and September 30, 2011. Images from 16-slice multidetector CT angiography were reviewed in 102 patients and the QS calculated. Based on a cut-off of 18 points established by ROC curve analysis, two groups were formed (A 18 was an independent predictor of RVD (RV/LV ratio > 1) (OR: 10.85; p 18 points proved to be an independent predictor of RVD in PE, and correlated linearly with variables associated with higher morbidity and mortality. Palavras-chave: Tromboembolismo pulmonar, Score de carga embólica, Disfunção ventricular direita, Keywords: Pulmonary embolism, Clot burden score, Right ventricular dysfunction

Aims Brugada syndrome (BrS) is a life-threatening arrhythmia disorder associated with autosomal-dominant mutations in the SCN5A gene. We aimed to characterize the diagnostic challenges and clinical manifestations of a novel SCN5A mutation associated with BrS. Methods and results From a novel SCN5A mutation (c.664C>T; p.Arg222X) identified in a proband with the characteristic electrocardiographic pattern and the history of sudden collapse, 122 family members were studied including 40 carriers of the mutation. The electrocardiographic diagnosis of BrS requires type 1 Brugada electrocardiogram (ECG) pattern in >1 right precordial lead (V1–V3), but recently an isolated lead with coved-type ECG was proposed to be enough for the diagnosis. In this family, these proposed criteria (PC) were more sensitive in detecting mutation carriers than the conventional criteria without repercussion on the specificity. Carriers had, on average, longer P-wave duration, PR, and QRS intervals and higher transmural dispersion of repolarization. The prevalence of late potentials was higher in carriers, and individual signal average ECG (SAECG) parameters (QRSf, LAS, and RMS40) also were related to SCN5A gene mutation. Three non-carriers were found to be affected by BrS, two with a spontaneous type 1 ECG with alternative placement of the precordial electrodes, and one only after the pharmacological provocative test, suggesting that other genes may play a role in the pathophysiology of this disease. Conclusion The PC for BrS diagnosis should be implemented. Some parameters from the spontaneous ECG and the SAECG are more effective tools than the characteristic repolarization pattern to discriminate between carriers of SCN5A mutations.

Resumo: O movimento anterior sistólico (SAM) é uma complicação pós cirúrgica da valvuloplastia mitral, sendo a sua incidência de 5-10%. O reconhecimento precoce dos sinais e sintomas de SAM é imperativo no delinear de estratégia terapêutica nesses pacientes. Este artigo foca os principais mecanismos fisiopatológicos do SAM dinâmico e modalidades de tratamento descritas na literatura. Os autores descrevem um caso clínico e as imagens ecocardiográficas captadas ilustrando a relevância clínica do mecanismo envolvido, na tentativa de esclarecer uma questão suscitada: reintervenção cirúrgica necessária? Abstract: Systolic anterior motion (SAM) is a postoperative complication of mitral valve repair, with an incidence of 5 to 10%. Early recognition of the signs and symptoms of SAM is essential for the management of these patients. This article focuses on the pathophysiology and dynamics of SAM and the treatment strategies described in the literature. The authors present a case study and echocardiographic images illustrating the clinical relevance of the mechanism involved, in order to clarify whether surgical reintervention is necessary. Palavras-chave: Movimento anterior sistólico, Valvuloplastia mitral, Fisiopatologia, Keywords: Systolic anterior motion, Mitral valve repair, Pathophysiology

Resumo: A doença de Fabry é causada por acumulação intracelular de glicoesfingolipidos em vários tecidos, secundária a mutações no gene GLA (Xq22).Classicamente descrita como afectando homens hemizigotos sem actividade residual de alfa-galactosidase-A, sabe-se hoje afectar ambos os sexos com manifestações mais tardias e frustres no feminino. Associa-se a sintomas neurológicos, cutâneos (angioqueratomas), renais, cardiovasculares (hipertrofia ventricular esquerda, alterações do ritmo e espessamento valvular), cocleo-vestibulares e cerebrovasculares.Na ausência de tratamento ocorre dano progressivo de órgãos vitais: doença renal terminal e complicações cardiovasculares e cerebrovasculares potencialmente fatais, implicando redução da qualidade e esperança de vida.Descreve-se o caso de doente do sexo feminino, com antecedentes de acidente vascular cerebral (AVC) isquémico criptogênico com 38 anos e insuficiência renal crónica (IRC) com proteinúria, que se apresenta no serviço de urgência com fibrilhação auricular. O estudo ecocardiográfico revelou hipertrofia concêntrica do ventrículo esquerdo com disfunção diastólica e diminuição do strain longitudinal basal. Englobada num protocolo, de rastreio, foi-lhe diagnosticada doença de Fabry e identificada uma mutação não descrita previamente. Abstract: Fabry disease is caused by intracellular accumulation of glycosphingolipids in various tissues, secondary to mutations in the GLA gene (Xq22).Classically described as affecting hemizygous males with no residual alpha-galactosidase A activity, it is now known to affect both sexes, with later and less severe manifestations in females. The manifestations of this disease are systemic: neurological, cutaneous (angiokeratomas), renal, cardiovascular (left ventricular hypertrophy, valve thickening or rhythm disturbances), cochlear-vestibular, and cerebrovascular. In the absence of treatment there is progressive damage to vital organs with renal failure, stroke, heart failure or rhythm perturbations, leading to severe impairment of quality of life as well as reduced life expectancy.We describe the case of a female patient with a history of cryptogenic ischemic stroke at the age of 38 years and chronic renal failure with proteinuria, who presented to the emergency room with atrial fibrillation. The echocardiogram revealed concentric left ventricular hypertrophy, diastolic dysfunction and decreased longitudinal strain in the basal septum.In the context of a screening protocol, she was diagnosed with Fabry disease and a previously undescribed mutation was identified. Palavras-chave: Doença de Fabry, Miocardiopatias, Hipertrofia ventricular esquerda, 2D Strain, Genética, Keywords: Fabry disease, Cardiomyopathies, Left ventricular hypertrophy, Speckle tracking, Genetics

Fabry disease is caused by intracellular accumulation of glycosphingolipids in various tissues, secondary to mutations in the GLA gene (Xq22).Classically described as affecting hemizygous males with no residual alpha-galactosidase A activity, it is now known to affect both sexes, with later and less severe manifestations in females. The manifestations of this disease are systemic: neurological, cutaneous (angiokeratomas), renal, cardiovascular (left ventricular hypertrophy, valve thickening or rhythm disturbances), cochlear-vestibular, and cerebrovascular. In the absence of treatment there is progressive damage to vital organs with renal failure, stroke, heart failure or rhythm perturbations, leading to severe impairment of quality of life as well as reduced life expectancy.We describe the case of a female patient with a history of cryptogenic ischemic stroke at the age of 38 years, and chronic renal failure with proteinuria, who presented to the emergency room with atrial fibrillation. The echocardiogram revealed concentric left ventricular hypertrophy, diastolic dysfunction and decreased longitudinal strain in the basal septum.In the context of a screening protocol, she was diagnosed with Fabry disease and a previously undescribed mutation was identified. Resumo: A doença de Fabry é causada por acumulação intracelular de glicoesfingolipidos em vários tecidos, secundária a mutações no gene GLA (Xq22).Classicamente descrita como afectando homens hemizigotos sem actividade residual de alfa-galactosidase-A, sabe-se hoje afectar ambos os sexos com manifestações mais tardias e frustres no feminino. Associa-se a sintomas neurológicos, cutâneos (angioqueratomas), renais, cardiovasculares (hipertrofia ventricular esquerda, alterações do ritmo e espessamento valvular), cocleo-vestibulares, e cerebrovasculares.Na ausência de tratamento ocorre dano progressivo de órgãos vitais: doença renal terminal e complicações cardiovasculares e cerebrovasculares potencialmente fatais, implicando redução da qualidade e esperança de vida.Descreve-se o caso de doente do sexo feminino, com antecedentes de acidente vascular cerebral (AVC) isquémico criptogênico com 38 anos e insuficiência renal crónica (IRC) com proteinúria, que se apresenta no serviço de urgência com fibrilhação auricular. O estudo ecocardiográfico revelou hipertrofia concêntrica do ventrículo esquerdo com disfunção diastólica e diminuição do strain longitudinal basal. Englobada num protocolo, de rastreio, foi-lhe diagnosticada doença de Fabry e identificada uma mutação não descrita previamente. Keywords: Fabry disease, Cardiomyopathies, Left ventricular hypertrophy, Speckle tracking, Genetics, Palavras-chave: Doença de Fabry, Miocardiopatias, Hipertrofia ventricular esquerda, 2D Strain, Genética

Aims: Stratifying risk of sudden death is a major issue in the management of hypertrophic cardiomyopathy (HCM). Existing risk factors have low positive predictive value and new parameters are needed. Determination of myocardial deformation (strain) by 2D Speckle tracking is a new methodology for determining LV regional function and could correlate with myocite disarray and fibrosis. The aim of this study was to assess the relationship between strain analysis and nonsustained ventricular tachycardia (NSVT) in patients with HCM. Methods: Thirty-two consecutive patients with HCM (mean age 55, 17–78) were studied. All underwent standard echocardiographic and two-dimensional strain examination. Twenty-four-hour Holter monitoring was performed and echocardiographic parameters were correlated with NSVT. Results: Nine patients (28%) had one or more episodes of NSVT. Patients with NSVT had a higher value of maximal LV thickness (23.6 mm vs. 19.4 mm, P = 0.027). There were no significant associations between NSVT on Holter monitoring and LV outflow gradient left atrial diameter, E/Em or left ventricle ejection fraction. Patients with HCM and NSVT had significant reductions in mid septal, apical-septal, apical-lateral strain, and in mean longitudinal strain. Midseptal strain >–10.5% had a sensitivity of 89% and a specificity of 74% (area under the curve, 0.787; P < 0.0013) for predicting NSVT independently of age or maximum wall thickness. Conclusion: Lower end-systolic peak longitudinal strain obtained by 2D speckle tracking was a predictor of NSVT in HCM patients. This parameter could become a useful tool in stratifying SCD risk in this population. (Echocardiography 2011;28:709-714)

Os autores apresentam um caso de síndrome de Twiddler, uma complicação rara após implantação de pacemaker definitivo, primeiramente descrito em 1968, complementado com uma abordagem à etiologia e manifestações desta entidade.Palavras-chave: Síndrome de Twiddler; Pacemaker/efeitos adversos; Falha de Equipamento.

info:eu-repo/semantics/publishedVersion

Partial anomalous pulmonary venous return (PAPVR) is a relatively common congenital cardiac malformation in which one to three pulmonary veins drain to a systemic vein, the right atrium or the coronary sinus, resulting in a left-to-right shunt and the risk of developing pulmonary hypertension (PHT). It is frequently associated to other congenital cardiac defects (mainly atrial septal defect) but seldom associated with acquired cardiac disease, and normally involves the right lung. When it involves the left lung, the surgical correction in children is normally performed without prosthetic material. The authors report a case of associated mitral stenosis and left PAPVR corrected with comissurotomy and extra-anatomic derivation with a synthetic vascular graft.

Resumo: A miocardiopatia arritmogénica do ventrículo direito – também denominada de displasia arritmogénica do ventrículo direito – é uma patologia em que se verifica a substituição do miocárdio por tecido fibroso ou fibroadiposo predominantemente no ventrículo direito e que se caracteriza clinicamente por arritmias ventriculares potencialmente letais, sendo uma das causas mais relevantes de morte súbita cardíaca. A sua prevalência exata é desconhecida, no entanto, estima‐se que seja de cerca de 1: 5.000 na população adulta. O diagnóstico pode ser efetuado mediante a constatação de alterações estruturais e funcionais do ventrículo direito, alterações eletrocardiográficas – da condução em ECG basal, arritmias ventriculares – e da história familiar. A existência de critérios de diagnóstico facilita o reconhecimento e interpretação das características clínicas não específicas desta entidade.Apresenta‐se um caso clínico em que o diagnóstico de miocardiopatia arritmogénica do ventrículo direito foi desencadeado a partir da suspeita de patologia ventricular direita suscitada por ecocardiograma transtorácico. A análise do ECG serviu para o confirmar, tendo‐se detetado ondas épsilon que em geral passam despercebidas, mas que neste caso foram a chave para o diagnóstico tendo‐se também aferido a sua existência em técnicas de ECG não convencional como o ECG modificado de Fontaine.A evolução subsequente do quadro clínico culminou com a ocorrência de taquicardia ventricular o que motivou a implantação de cardiodesfibrilhador implantável (CDI). Abstract: Arrhythmogenic right ventricular cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia, is a condition in which myocardium is replaced by fibrous or fibrofatty tissue, predominantly in the right ventricle. It is clinically characterized by potentially lethal ventricular arrhythmias, and is a leading cause of sudden cardiac death. Its prevalence is not known exactly but is estimated at approximately 1:5000 in the adult population. Diagnosis can be on the basis of structural and functional alterations of the right ventricle, electrocardiographic abnormalities (including depolarization and repolarization alterations and ventricular arrhythmias) and family history. Diagnostic criteria facilitate the recognition and interpretation of non‐specific clinical features of this disease.The authors present a case in which the diagnosis of arrhythmogenic right ventricular cardiomyopathy was prompted by the suspicion of right ventricular disease on transthoracic echocardiography. This was confirmed by detection of epsilon waves on analysis of the ECG, which generally go unnoticed but in this case were the key to the diagnosis. Their presence was also shown by non‐conventional ECG techniques such as modified Fontaine ECG.The course of the disease culminated in the occurrence of ventricular tachycardia, which prompted placement of an implantable cardioverter‐defibrillator. Palavras‐chave: Miocardiopatia arritmogénica do ventrículo direito, Eletrocardiograma modificado de Fontaine, Ondas épsilon, Keywords: Arrhythmogenic right ventricular cardiomyopathy, Modified Fontaine ECG, Epsilon waves

The authors present a case of Twiddler's syndrome, a rare complication after pacemaker implantation, first described in 1968. The article is complemented by an approach to the etiology and manifestations of this entity.Os autores apresentam um caso de síndrome de Twiddler, uma complicação rara após implantação de pacemaker definitivo, primeiramente descrito em 1968, complementado com uma abordagem à etiologia e manifestações desta entidade.

Cardiac hemangiomas are a rare benign primary tumor with an estimated incidence of no more than 10% of cases of primary cardiac tumors. They can arise in any location but most of them occur predominantly in the right ventricle. Heart hemangiomas are usually asymptomatic and accidentally diagnosed by imaging methods such as echocardiography or nuclear magnetic resonance; however they can cause symptoms resulting from obstruction of blood flow, interference with the heart valves, arrhythmias or embolization. Surgical resection is the treatment of choice and long-term prognosis is favorable after total resection of the tumor. The authors present a case of cardiac hemangioma whose clinical diagnosis was triggered by exertional dyspnea and culminating with complete resection of the tumor. In this context, a review of this entity is made with special emphasis on imaging modalities used for diagnosis.

Arrhythmogenic right ventricular cardiomyopathy, also known as arrhythmogenic right ventricular dysplasia, is a condition in which myocardium is replaced by fibrous or fibrofatty tissue, predominantly in the right ventricle. It is clinically characterized by potentially lethal ventricular arrhythmias, and is a leading cause of sudden cardiac death. Its prevalence is not known exactly but is estimated at approximately 1:5000 in the adult population. Diagnosis can be on the basis of structural and functional alterations of the right ventricle, electrocardiographic abnormalities (including depolarization and repolarization alterations and ventricular arrhythmias) and family history. Diagnostic criteria facilitate the recognition and interpretation of non-specific clinical features of this disease.The authors present a case in which the diagnosis of arrhythmogenic right ventricular cardiomyopathy was prompted by the suspicion of right ventricular disease on transthoracic echocardiography. This was confirmed by detection of epsilon waves on analysis of the ECG, which generally go unnoticed but in this case were the key to the diagnosis. Their presence was also shown by non-conventional ECG techniques such as modified Fontaine ECG.The course of the disease culminated in the occurrence of ventricular tachycardia, which prompted placement of an implantable cardioverter-defibrillator. Resumo: A miocardiopatia arritmogénica do ventrículo direito – também denominada de displasia arritmogénica do ventrículo direito – é uma patologia em que se verifica a substituição do miocárdio por tecido fibroso ou fibroadiposo predominantemente no ventrículo direito e que se caracteriza clinicamente por arritmias ventriculares potencialmente letais, sendo uma das causas mais relevantes de morte súbita cardíaca. A sua prevalência exata é desconhecida, no entanto, estima-se que seja de cerca de 1: 5.000 na população adulta. O diagnóstico pode ser efetuado mediante a constatação de alterações estruturais e funcionais do ventrículo direito, alterações eletrocardiográficas – da condução em ECG basal, arritmias ventriculares – e da história familiar. A existência de critérios de diagnóstico facilita o reconhecimento e interpretação das características clínicas não específicas desta entidade.Apresenta-se um caso clínico em que o diagnóstico de miocardiopatia arritmogénica do ventrículo direito foi desencadeado a partir da suspeita de patologia ventricular direita suscitada por ecocardiograma transtorácico. A análise do ECG serviu para o confirmar, tendo-se detetado ondas épsilon que em geral passam despercebidas, mas que neste caso foram a chave para o diagnóstico tendo-se também aferido a sua existência em técnicas de ECG não convencional como o ECG modificado de Fontaine.A evolução subsequente do quadro clínico culminou com a ocorrência de taquicardia ventricular o que motivou a implantação de cardiodesfibrilhador implantável (CDI). Keywords: Arrhythmogenic right ventricular cardiomyopathy, Modified Fontaine ECG, Epsilon waves, Palavras-chave: Miocardiopatia arritmogénica do ventrículo direito, Eletrocardiograma modificado de Fontaine, Ondas épsilon

Penetrating atherosclerotic ulcers (PAU) represent a pathological phenomenon in which ulceration of atheromatous lesions of the aorta penetrates the internal elastic lamina, reaching the middle muscular layer. These ulcers are more common in the descending thoracic aorta, being rare in the ascending aorta. The differential diagnosis between PAU and other entities of acute aortic syndromes (AAS) becomes difficult. The diagnosis of this disease is made through imaging studies: multidetector computed tomography (MDCT), magnetic resonance (MR) or transesophageal echocardiography (TEE). After diagnosis, the PAU of the ascending aorta should be treated surgically in an emergency context. In this paper the authors report a case of PAU in the aortic arch in a 84 years old patient admitted to the emergency room for chest pain. In this context a review of the natural evolution of this entity is made, with emphasis on diagnostic imaging modalities used for its characterization as well as their treatment options.