Ana Baptista

Screening for Fabry Disease in Left Ventricular Hypertrophy: Documentation of a Novel Mutation

Background Fabry disease is a lysosomal storage disease caused by enzyme α-galactosidase A deficiency as a result of mutations in the GLA gene. Cardiac involvement is characterized by progressive left ventricular hypertrophy. Objective To estimate the prevalence of Fabry disease in a population with left ventricular hypertrophy. Methods The patients were assessed for the presence of left ventricular hypertrophy defined as a left ventricular mass index ≥ 96 g/m2 for women or ≥ 116 g/m2 for men. Severe aortic stenosis and arterial hypertension with mild left ventricular hypertrophy were exclusion criteria. All patients included were assessed for enzyme α-galactosidase A activity using dry spot testing. Genetic study was performed whenever the enzyme activity was decreased. Results A total of 47 patients with a mean left ventricular mass index of 141.1 g/m2 (± 28.5; 99.2 to 228.5 g/m2] were included. Most of the patients were females (51.1%). Nine (19.1%) showed decreased α-galactosidase A activity, but only one positive genetic test − [GLA] c.785G>T; p.W262L (exon 5), a mutation not previously described in the literature. This clinical investigation was able to establish the association between the mutation and the clinical presentation. Conclusion In a population of patients with left ventricular hypertrophy, we documented a Fabry disease prevalence of 2.1%. This novel case was defined in the sequence of a mutation of unknown meaning in the GLA gene with further pathogenicity study. Thus, this study permitted the definition of a novel causal mutation for Fabry disease - [GLA] c.785G>T; p.W262L (exon 5).

Severe aneurysmal coronary artery disease in a patient with ulcerative colitis

Formation of coronary artery aneurysms in the setting of systemic inflammatory conditions is rare but has been described. We report a case of severe aneurysmal coronary artery disease leading to an acute coronary event in a patient with ulcerative colitis. A 67-year-old Caucasian man with a medical history of ulcerative colitis and hypertension presented with chest pain and diaphoresis ongoing for 12 hours. His physical examination was unremarkable; electrocardiography revealed inverted T waves in leads I, aVL and V4--V6, and troponin I

0504: Isolated elevation of cardiac troponin is associated with better prognosis of non-ST segment elevation myocardial infarction

Purpose We sought to evaluate the effect of isolated elevation of cTn on short-term outcomes of NSTE-MI Methods From Oct 2010 to Oct 2013, 3799 patients with NSTE-MI were enrolled on a national multicenter registry. These patients were divided in 2 groups: BM+: elevation of cTn and other biomarkers of myocardial injury (n=2445); BM-: elevation of cTn without rise in the other biomarkers (n=948).The endpoints included in-hospital all-cause mortality and a composite endpoint of death, re-infarction, heart failure (Killip class >2) and resuscitated cardiac arrest during hospitalization. Logistic regression modelling was used to compute adjusted odds ratio of death and of the composite endpoint. Results The BM- patients were younger (66±12 vs. 68±13, p 1, p Conclusion In this observational nationwide study, patients with isolated cTn elevation showed a better short-term prognosis than those with elevation of all biomarkers of myocardial injury. The higher sensitivity of cTn might be associated with less myocardial damage and therefore fewer complications.

Fibroelastoma condicionando obstrução coronária intermitente e enfarte do miocárdio. Quando o ecocardiograma poderia ter feito a diferença

Este caso remete-se a uma doente de 65 anos trazida ao hospital pela emergência médica por quadro de dor torácica constritiva com uma hora de evolução. O eletrocardiograma pré-hospitalar mostrava elevação do segmento ST nas derivações inferiores (Figura 1A). Na admissão a doente já se encontrava assintomática e o eletrocardiograma mostrava resolução das alterações descritas. Foram observados na telemetria períodos intermitentes de elevação de ST assintomáticos, enquanto a doente era preparada para cateterismo urgente. Neste visualizou-se um stop de contraste no ostium da artéria coronária direita que condicionava elevados gradientes intracoronários durante a angiografia seletiva da mesma (Figura 1B). Inicialmente colocou-se a hipótese de se tratar de uma possível disseção,

Trombo mural e aorta torácica aneurismática – uma associação rara

A 72-year-old woman was referred for surgery following fracture of the humerus in a fall, without syncope. She had a history of dementia, hypertension and aortic aneurysm with mural thrombus diagnosed eight years previously, not referred for surgical treatment due to the patient’s refusal. On preoperative cardiovascular assessment, she was asymptomatic, with controlled blood pressure and no pressure difference between limbs. The transthoracic echocardiogram showed mild dilatation of the ascending aorta (36 mm) and aneurysm of the aortic arch (69 mm) and the descending aorta (43 mm), with what appeared to be a large (35

Stent Thrombosis eight years past drug-eluting stent placement: a case report

Stent thrombosis (ST) is a major concern in the drug-eluting stents (DES) era. There are several reports of stent thrombosis occurring up to five years after stent implantation. We report the case of a sixty eight-year-old woman with very late ST presenting as acute ST-elevation myocardial infarction (STEMI) after stopping antiplatelet therapy eight years past DES placement. The long time-to-event of this case brings new questions to the controversial aspects of optimal followup time and the safety of antiplatelet therapy cessation after recommended times are met in patients with DES.

Estenose tricúspide induzida por eletrocateter de pacemaker , relato de 2 casos clínicos

Tricuspid stenosis (TS) is an uncommon complication of transvenous ventricular pacemaker implantation, with few cases reported in the literature. The mechanisms described are obstruction of right ventricular inflow by tricuspid vegetations (endocarditis), multiple pacemaker leads and tricuspid valve (TV) fibrosis secondary to perforation or laceration of the TV leaflets, or adherence between redundant portions of the lead and valvular and subvalvular tissue. We report two cases of severe TS, with different etiologies and management: one caused by leaflet perforation, resolved surgically, and the other secondary to fusion between a loop of the pacemaker lead and the subvalvular apparatus, which was treated medically.