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- p.G360R is a pathogenic GLA gene mutation responsible for a classic phenotype of Fabry diseasePublication . Carvalho Silva, Daniela; Marques, Nuno; Azevedo, Olga; Miltenberger-Miltenyi, Gabriel; Bento, Dina; Guedes, Joao; Azevedo, Pedro; Bispo, Joao; Mota, Teresa; Fernandes, Raquel; Nzwalo, Hipólito; Cabrita, Ana; Ramos, André; de Jesus, IlidioThe authors report the case of a classic phenotype of Fabry disease in a 60-year-old male patient presenting with left ventricular hypertrophy and stroke. Genetic analysis revealed 2 GLA-gene variants, i.e., p.R356Q and p.G360R. This clinical case highlights that the finding of 2 or more GLA gene variants in a Fabry patient should lead to a careful evaluation in order to determine their exact role in the condition. This case also provides the first clinical evidence that the p.G360R mutation is pathogenic and responsible for a classic phenotype of Fabry disease. The clinical improvement following the initiation of enzyme replacement therapy reinforces the importance of Fabry disease awareness and diagnosis in patients exhibiting red flags, such as left ventricular hypertrophy and stroke.
- Mortality predictors in patients with takotsubo cardiomyopathyPublication . Bebiana Faria, B.; Marmelo, B.; Azevedo, Pedro; Ruivo, C.; Santos, R.; Gomes, A.; Vieira, M.; Teles, L.; Marreiros, Ana; Almeida, A.; Calvo, L.; Portugues, J.Takotsubo cardiomyopathy (TC) is characterized by transient left ventricular dysfunction in the absence of artery coronary disease. The prognosis is generally favorable but there are cases of death. TC is a rare disease with a low number of events and because of that, there are few studies that describe mortality predictors.
- CRUSADE: Is it still a good score to predict bleeding inacute coronary syndrome?Publication . Bento, D.; Marques, N.; Guedes, J.; Azevedo, Pedro; Amado, José; Santos, W.; Bispo. J.; Mimoso, J.; Jesus, I.; Silva, D.Introduction: Major bleeding is a serious complication of acute coronary syndrome (ACS) andis associated with a worse prognosis. The CRUSADE bleeding score is used to stratify the risk ofmajor bleeding in ACS.Objective: To assess the predictive ability of the CRUSADE score in a contemporary ACS popu-lation.Methods: In a single-center retrospective study of 2818 patients admitted with ACS, the CRU-SADE score was calculated for each patient and its discrimination and goodness of fit wereassessed by the area under the receiver operating characteristic curve (AUC) and by the Hosmer-Lemeshow test, respectively. Predictors of in-hospital major bleeding (IHMB) were determined.Results: The IHMB rate was 1.8%, significantly lower than predicted by the CRUSADE score (7.1%,p<0.001). The incidence of IHMB was 0.5% in the very low risk category (rate predicted by thescore 3.1%), 1.5% in the low risk category (5.5%), 1.6% in the moderate risk category (8.6%),5.5% in the high risk category (11.9%), and 4.4% in the very high risk category (19.5%). Thepredictive ability of the CRUSADE score for IHMB was only moderate (AUC 0.73).The in-hospital mortality rate was 4.0%. Advanced age (p=0.027), femoral vascular access(p=0.004), higher heart rate (p=0.047) and ticagrelor use (p=0.027) were independent predictorsof IHMB.Conclusions: The CRUSADE score, although presenting some discriminatory power, significantlyoverestimated the IHMB rate, especially in patients at higher risk. These results questionwhether the CRUSADE score should continue to be used in the stratification of ACS.
- Screening of Lysosomal acid lipase deficiency in patients with severe dyslipidemia and premature coronaryheart diseasePublication . Azevedo, O.; Marques, N.; Antunes, H.; Azevedo, Pedro; Oliveira, M.; Bento, D.; Guedes, J.; Marmelo, B.; Faria, R.; Correia, E.Objectives: To determine the prevalence of Lysosomal Acid Lipase (LAL) deficiency in patients with severe dyslipidemia and premature coronary heart disease.
- Bradiarritmias: abordagem em contexto pré e intra-hospitalarPublication . Costa, Hugo; Azevedo, Pedro; Carvalho, Daniela; Candeias, Rui; Jesus, IlidioAs bradiarritmias são eventos arrítmicos frequentes em contexto urgente e emergente. A sua frequência aumenta com a idade devido à evolução degenerativa do sistema de condução cardíaco, embora também possam ser encontradas em idades jovens e atletas treinados. A doença sinoauricular e os bloqueios auriculoventriculares são os mecanismos fisiopatológicos mais comuns no que diz respeito aos distúrbios da condução. Uma correta investigação é essencial na identificação etiológica (intrínseca ou extrínseca ao tecido cardíaco) bem como na forma de instalação e no caráter de reversibilidade. As causas reversíveis devem ser prontamente corrigidas e são essenciais na estabilização do doente. Na presença de bradicardia, a apresentação clínica deve guiar a abordagem inicial, assim como a existência de sinais de gravidade no electrocardiograma. A terapêutica farmacológica e o pacing transcutâneo são medidas/atitudes intermédias de suporte hemodinâmico como ponte para intervenções especializadas. Assim, uma correta avaliação e rápida abordagem em ambiente pré-hospitalar ou hospitalar possibilita a estabilização do doente e posterior encaminhamento para estudo dirigido.