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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.
- Pretreatment antithrombotic strategies in non-ST elevation acute coronary syndromes in contemporaneous clinical practicePublication . Costa, Hugo; Espírito-Santo, Miguel; Fernandes, Raquel; Bispo, João; Guedes, João; Azevedo, Pedro; Carvalho Silva, Daniela; Vinhas, Hugo; Gonçalves, Rui Baptista; Mimoso, JorgeBACKGROUND Pretreatment antithrombotic strategies in non-ST elevation acute coronary syndromes (NSTE-ACS) during hospitalization is still a matter of contention within the cardiology community. Our aim was to analyze in-hospital and one-year follow-up outcomes of patients with NSTE-ACS pretreated with dual antiplatelet therapy (DAPT) versus single antiplatelet therapy (SAPT). METHODS A retrospective study was carried out with NSTE-ACS patients who planned to undergo an invasive strategy and were included in the Portuguese Registry of ACS between 2018 and 2021. A composite primary outcome (in-hospital re-infarction, stroke, heart failure, hemorrhage, death) was compared regarding antiplatelet strategy (DAPT versus SAPT). Secondary outcomes were defined as one-year all-cause mortality and one-year cardiovascular rehospitalization. RESULTS A total of 1469 patients were included, with a mean age of 66 12 years, and 73.9 % were male. The DAPT regime was used in 38.2 % of patients and SAPT in 61.8 % of patients. NSTE myocardial infarction was the most frequent presentation (88.5 %). Revascularization was performed within 24 h in 55.2% of patients. Time until revascularization >24 h occurred in 44.8% of patients, with 16.5% of these between [24 h–48 h], 10.6% in [48 h–72 h] and 17.6% > 72 h. The primary outcome was more frequently observed in the SAPT group (10.4 %, p ¼ 0.033), mainly driven by more ischemic events. Time until revascularization >72 h and the SAPT regime were independent predictors of the primary outcome (OR 3.09, p ¼ 0.005, and OR 2.03, p ¼ 0.008, respectively).