Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome.

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.

Spontaneous fluctuations between diagnostic and nondiagnostic ECGs in Brugada syndrome screening: Portuguese family with Brugada syndrome.

BACKGROUND: All family members of patients with Brugada syndrome (BS) should be screened. Fluctuations between diagnostic and nondiagnostic electrocardiogram (ECG) patterns in patients with BS are recognized, but systematic studies are lacking. The objective of this work was to prospectively evaluate the spontaneous changes between diagnostic and nondiagnostic ECG patterns in a family screened for BS. METHODS: One hundred twenty-nine family members were possibly affected plus the index case were screened with two ECGs with an interval of 6 months. Only coved-type ECG pattern was defined as diagnostic; type 2 and 3 ECGs were considered suggestive. RESULTS: The first ECG series made six diagnostics and the second 11, but only three patients maintained the diagnostic ECG. Patients with basal diagnostic ECG were older and more frequently symptomatic. Body mass index (BMI) was significantly lower in adults with diagnostic plus suggestive ECG when compared with the others. No significant gender difference was found among relatives with or without diagnostic ECG. CONCLUSION: Spontaneous phenotypic manifestation of BS was more frequent in older symptomatic patients, absent in children, and related with low BMI. ECG manifestations were intermittent in more than 3/4 of the affected patients. Fluctuations between diagnostic and nondiagnostic ECGs may have an implication on the correct phenotyping in family screening so several ECGs with drug challenging are mandatory.

Impact of Emergency Medical System Transportation in ST-segment Elevation Myocardial Infarction: A Nationwide Retrospective Study.

INTRODUCTION: Emergency medical system transportation has been shown to reduce treatment times in ST-segment elevation myocardial infarction. The authors studied the Portuguese National Registry of Acute Coronary Syndromes to determine the nationwide impact of the emergency medical system transportation in the treatment of ST-segment elevation myocardial infarction. MATERIAL AND METHODS: A multicentric, nationwide, retrospective study of ST-segment elevation myocardial infarction patients inserted in the National Registry from 2010 to 2017 was performed. The patients were divided into: Group I, composed of patients transported by emergency medical system, and Group II, patients arriving to the Emergency department by other means. RESULTS: Of the 5702 patients studied, 25.9% were transported via emergency medical system. Rates of emergency medical system activation increased by 17% in the last 7 years. The emergency medical system provided a higher rate of transport to a percutaneous coronary intervention capable centre, of Emergency department bypass, of on-site fibrinolysis, and ensured a 59-minute reduction of the median reperfusion time (p < 0.001). There was no difference in in-hospital mortality. DISCUSSION: In this nationwide cohort, emergency medical system transportation is associated with a reduction in reperfusion times. It provides a higher amount of salvaged myocardium and reduces the incidence of acute heart failure. However, emergency medical system use did not result in lower in-hospital mortality, probably due to confounding factors of higher disease severity and comorbidity. CONCLUSION: The benefits associated with emergency medical system based transportation of patients with ST-segment elevation myocardial infarction do not translate into lower in-hospital mortality.

Introdução: O transporte através de sistemas de emergência médica reduz os tempos de tratamento no enfarte agudo do miocárdio com elevação do segmento ST. Os autores estudaram o Registo Nacional de Síndromes Coronários Agudos para avaliar o impacto nacional do transporte através de sistema de emergência médica no tratamento do enfarte agudo do miocárdio com elevação do segmento ST. Material e Métodos: Foi realizado um estudo retrospetivo, multicêntrico de doentes com enfarte agudo do miocárdio com elevação do segmento ST inseridos no Registo Nacional desde 2010 até 2017. Os doentes foram divididos em Grupo I, representando doentes transportados por viaturas de emergência médica e Grupo II, doentes que chegaram ao Serviço de Urgência por outros meios. Resultados: Do total de 5702 doentes, 25,6% foram transportados por viaturas de emergência médica. Registou-se um aumento no uso de viaturas de emergência médica de 17% nos últimos sete anos. Os sistemas de emergência médica garantiram uma maior taxa de transporte para centros capazes de realizar intervenção coronária percutânea, de bypass do Serviço de Urgência e de fibrinólise no local. O transporte através de viaturas de emergência médica conseguiu uma redução da mediana do atraso para a reperfusão de 59 minutos (p < 0,001). Não houve diferença na mortalidade intra-hospitalar. Discussão: Nesta amostra nacional, é evidente que os sistemas de emergência médica reduziram significativamente os tempos de reperfusão, associando-se a uma menor incidência de insuficiência cardíaca aguda pós-enfarte. No entanto, esse benefício não resultou numa menor mortalidade intra-hospitalar, provavelmente devido ao facto dessa população representar um subgrupo de doentes com doença mais grave e mais comorbilidades. Conclusão: Os benefícios associados ao uso de sistemas de emergência médica no transporte de doentes com enfarte agudo do miocárdio com elevação do segmento ST não se traduziram numa menor mortalidade intra-hospitalar.

Application of Risks Scores in Acute Coronary Syndromes. How Does ProACS Hold Up Against Other Risks Scores?

BACKGROUND: Multiple risk scores (RS) are approved in the prediction of worse prognosis in acute coronary syndromes (ACS). Recently, the Portuguese Journal of Cardiology has proposed the ProACS RS. OBJECTIVE: Application of several validated RS, as well as ProACS in patients, admitted for ACS. Evaluation of each RS's performance in predicting in-hospital mortality and the occurrence of all-cause mortality or non-fatal ACS at one-year follow-up and compare them to the ProACS RS. METHODS: A retrospective study of ACS was performed. The following RS were applied: GRACE, ACTION Registry-GWTG, PURSUIT, TIMI, EMMACE, SRI, CHA2DS2-VASc-HS, C-ACS and ProACS. ROC Curves were created to determine the predictive power for each RS and then were directly compared to ProACS. RESULTS: The ProACS, ACTION Registry-GWTG and GRACE showed a c-statistics of 0.908, 0.904 and 0.890 for predicting in-hospital mortality, respectively, performing better in ST-segment elevation myocardial infarction patients. The other RS performed satisfactorily, with c-statistics over 0.750, apart from the CHA2DS2-VASc-HS and C-ACS which underperformed. All RS underperformed in predicting worse long-term prognosis revealing c-statistics under 0.700. CONCLUSION: ProACS is an easily obtained risk score for early stratification of in-hospital mortality. When evaluating all RS, the ProACS, ACTION Registry-GWTG and GRACE RS showed the best performance, demonstrating high capability of predicting a worse prognosis. ProACS was able to demonstrate statistically significant superiority when compared to almost all RS. Thus, the ProACS has showed that it is able to combine simplicity in the calculation of the score with good performance in predicting a worse prognosis.

Acute myocardial infarction with angiographically normal coronary arteries.

The authors present the case of a 51-year-old woman, with no known cardiovascular risk factors, admitted with anterior acute myocardial infarction complicated by primary ventricular fibrillation, who underwent reperfusion therapy with tenecteplase. Left heart catheterization on the sixth day showed left ventricular anteroapical akinesia and normal coronary arteries. The causes of acute myocardial infarction with normal coronary arteries and its differential diagnosis are discussed.

Brucella endocarditis--case report and literature review.

Endocarditis is a rare and serious complication of brucellosis and is the main cause of death in this pathology. Diagnosis requires a high level of suspicion and is based on the association of epidemiological, clinical and serological elements. Echocardiography plays a crucial role in early diagnosis, as well as in identifying predisposing heart disease and local complications typical of this pathology. Treatment is not consensual; most authors recommend an early surgical approach, due to the degree of tissue destruction caused by Brucella and the high rate of recurrence. Nevertheless, other authors stress the need for prognostic stratification of each case and support conservative treatment in low-risk cases. This article describes the case of a patient with brucella endocarditis that was treated medically and reviews the relevant literature.

[Twiddler syndrome: rare cause of definitive pacemaker dysfunction]. / Síndrome de Twiddler: Causa Rara de Disfunção de Pacemaker Definitivo.

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.

Application of Risks Scores in Acute Coronary Syndromes. How Does ProACS Hold Up Against Other Risks Scores? / Aplicação de Escores de Risco em Síndromes Coronárias Agudas: Como o ProACS se Comporta Diante de Outros Escores de Risco?

Abstract Background: Multiple risk scores (RS) are approved in the prediction of worse prognosis in acute coronary syndromes (ACS). Recently, the Portuguese Journal of Cardiology has proposed the ProACS RS. Objective: Application of several validated RS, as well as ProACS in patients, admitted for ACS. Evaluation of each RS's performance in predicting in-hospital mortality and the occurrence of all-cause mortality or non-fatal ACS at one-year follow-up and compare them to the ProACS RS. Methods: A retrospective study of ACS was performed. The following RS were applied: GRACE, ACTION Registry-GWTG, PURSUIT, TIMI, EMMACE, SRI, CHA2DS2-VASc-HS, C-ACS and ProACS. ROC Curves were created to determine the predictive power for each RS and then were directly compared to ProACS. Results: The ProACS, ACTION Registry-GWTG and GRACE showed a c-statistics of 0.908, 0.904 and 0.890 for predicting in-hospital mortality, respectively, performing better in ST-segment elevation myocardial infarction patients. The other RS performed satisfactorily, with c-statistics over 0.750, apart from the CHA2DS2-VASc-HS and C-ACS which underperformed. All RS underperformed in predicting worse long-term prognosis revealing c-statistics under 0.700. Conclusion: ProACS is an easily obtained risk score for early stratification of in-hospital mortality. When evaluating all RS, the ProACS, ACTION Registry-GWTG and GRACE RS showed the best performance, demonstrating high capability of predicting a worse prognosis. ProACS was able to demonstrate statistically significant superiority when compared to almost all RS. Thus, the ProACS has showed that it is able to combine simplicity in the calculation of the score with good performance in predicting a worse prognosis.

Resumo Fundamento: Existem muitos escores de risco (ERs) aprovados na predição de um pior prognóstico em síndromes coronárias agudas (SCAs). Recentemente, a Revista Portuguesa de Cardiologia propôs o ER ProACS. Objetivo: Aplicar vários ERs validados, bem como o ProACS em pacientes internados por SCA. Avaliar o desempenho de cada ER em predizer mortalidade hospitalar e a ocorrência de mortalidade por todas as causas ou SCA não fatal em um ano de acompanhamento e compará-los com o ProACS. Métodos: Estudo retrospectivo de SCA. Os seguintes ERs foram aplicados: GRACE, ACTION Registry-GWTG, PURSUIT, TIMI, EMMACE, SRI, CHA2DS2-VASc-HS, C-ACS e ProACS. Curvas ROC foram criadas para determinar o poder preditivo de cada ER e diretamente comparadas com a do ProACS. Resultados: Os escores ProACS, ACTION Registry-GWTG e GRACE mostraram estatística-C de 0,908, 0,904 e 0,890, respectivamente, em predizer mortalidade hospitalar, mostrando melhor desempenho em pacientes com infarto do miocárdio com elevação do segmento ST. Os demais ERs mostraram desempenho satisfatório, com estatística-C acima de 0,750, com exceção de CHA2DS2-VASc-HS e C-ACS, que mostraram baixa performance. Todos os ERs apresentaram baixo desempenho em predizer um pior prognóstico em longo prazo, com estatística-C abaixo de 0,700. Conclusão: O ProACS é um escore de risco facilmente obtido para estratificação precoce de mortalidade intra-hospitalar. Ao avaliar todos os ERs, ProACS, ACTION Registry-GWTG e GRACE mostraram o melhor desempenho, com alta capacidade de predizer um pior prognóstico. O ProACS mostrou superioridade estatisticamente significativa em comparação aos outros ERs. Portanto, o ProACS mostrou-se capaz de combinar simplicidade no cálculo do escore com bom desempenho em predizer um pior prognóstico.