Loading...
4 results
Search Results
Now showing 1 - 4 of 4
- Congenital left ventricular apical aneurysm presenting as ventricular tachycardiaPublication . Amado, José; Marques, Nuno; Candeias, Rui; Gago, Paula; de Jesus, IlidioThe authors present the case of a 34-year-old male patient seen in our department due to palpitations. On the electrocardiogram monomorphic ventricular tachycardia (VT) was documented, treated successfully with amiodarone. The subsequent study revealed a normal echocardiogram and an apical aneurysm of the left ventricle on magnetic resonance imaging, confirmed by computed tomography coronary angiography that also excluded coronary disease.He underwent an electrophysiological study to determine the origin of the VT and to perform catheter ablation using electroanatomical mapping. VT was induced and radiofrequency applications were performed in the left ventricular aneurysm area. VT was no longer inducible, with acute success. Despite this it was decided to implant a subcutaneous implantable cardioverter-defibrillator (ICD). Eight months after the ablation the patient was admitted again due to VT, treated by the ICD. (C) 2016 Sociedade Portuguese de Cardiologia. Published by Elsevier Espana, S.L.U. All rights reserved.
- Screening for Fabry disease in patients with left ventricular noncompactionPublication . Azevedo, Olga; Marques, Nuno; Craveiro, Nuno; Pereira, Ana Rita; Antunes, Hugo; Reis, Liliana; Guerreiro, Rui Azevedo; Pontes dos Santos, Rui; Miltenberger-Miltenyi, Gabriel; Sousa, Nuno; Cunha, DamiãoIt is unclear whether left ventricular noncompaction (LVNC) is a distinct cardiomyopathy or a morphologic manifestation of different cardiomyopathies. We previously reported a case of LVNC in a Fabry disease (FD) patient, but it remains to be clarified whether LVNC is a cardiac manifestation of FD, a coincidental finding or an overdiagnosis, which has major therapeutic implications. This study aims to determine the prevalence of FD among patients with LVNC.
- 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.
- Predictors of in-hospital outcome in takotsubo cardiomyopathy, a multicenter studyPublication . Calvo, A. L. Ana; Azevedo, O.; Santos, R. P.; Almeida, A. R.; Craveiro, N.; Picarra, B.; Lima, R.; Reis, L.; Marmelo, B.; Marreiros, A.; Marques, Nuno; Amado, JoséTakotsubo cardiomyopathy (TC) is characterized by a transient left ventricular (LV) dysfunction in the absence of significant coronary artery disease. The predictors of prognosis of TC are not yet fully established