Doroteia Silva

Cystatin C as Prognostic Biomarker in ST-Segment Elevation Acute Myocardial Infarction

Cystatin C is a marker of renal dysfunction, and preliminary studies have suggested it might have a role as a prognostic marker in patients with coronary artery disease. The aim of the present study was to evaluate the usefulness of cystatin C for risk stratification of patients with ST-segment elevation myocardial infarction, regarding in-hospital and long-term outcomes. We included 153 consecutive patients with ST-segment elevation myocardial infarction treated by primary angioplasty. The baseline cystatin C level was measured at coronary angiography. The in-hospital outcome was determined as progression to cardiogenic shock or in-hospital death, and the long-term outcome was assessed, considering the following end points: (1) death and (2) death or reinfarction. Of the 153 patients evaluated (age 61 ± 12 years; 75.6% men), 15 (14.4%) progressed to cardiogenic shock and 4 (2.7%) died during hospitalization. The patients who progressed to cardiogenic shock or died during hospitalization had significantly greater cystatin C levels (1.02 ± 0.44 vs 0.69 ± 0.24 mg/L; p = 0.001). Long-term follow-up was available for 130 patients (583 ± 163 days). Among them, 11 patients died and 7 had reinfarction. A high baseline cystatin C level was associated with an increased risk of death (hazard ratio 8.5; p = 0.009) and death or reinfarction (hazard ratio 3.89; p = 0.021). Furthermore, only high baseline cystatin C levels and left ventricular ejection fraction ≤40% were independent predictors of the long-term risk of death, with synergistic interaction between the 2. In conclusion, cystatin C is a new biomarker with significant added prognostic value for patients with ST-segment elevation myocardial infarction undergoing primary percutaneous coronary intervention, predicting both short- and long-term outcomes.

Sarcomeric hypertrophic cardiomyopathy: Genetic profile in a Portuguese population

BACKGROUND Sarcomeric hypertrophic cardiomyopathy has heterogeneous phenotypic expressions, of which sudden cardiac death is the most feared. A genetic diagnosis is essential to identify subjects at risk in each family. The spectrum of disease-causing mutations in the Portuguese population is unknown. METHODS Seventy-seven unrelated probands with hypertrophic cardiomyopathy were systematically screened for mutations by PCR and sequencing of five sarcomeric genes: MYBPC3, MYH7, TNNT2, TNNI3 and MYL2. Familial cosegregation analysis was performed in most patients. RESULTS Thirty-four different mutations were identified in 41 (53%) index patients, 71% with familial hypertrophic cardiomyopathy. The most frequently involved gene was MYBPC3 (66%) with 22 different mutations (8 novel) in 27 patients, followed by MYH7 (22%), TNNT2 (12%) and TNNI3 (2.6%). In three patients (7%), two mutations were found in MYBPC3 and/or MYH7. Additionally, 276 relatives were screened, leading to the identification of a mean of three other affected relatives for each pedigree with the familial form of the disease. CONCLUSIONS Disease-associated mutations were identified mostly in familial hypertrophic cardiomyopathy, corroborating the idea that rarely studied genes may be implicated in sporadic forms. Private mutations are the rule, MYBPC3 being the most commonly involved gene. Mutations in MYBPC3 and MYH7 accounted for most cases of sarcomere-related disease. Multiple mutations in these genes may occur, which highlights the importance of screening both. The detection of novel mutations strongly suggests that all coding regions should be systematically screened. Genotyping in hypertrophic cardiomyopathy enables a more precise diagnosis of the disease, with implications for risk stratification and genetic counseling.

Proteína C reativa de alta sensibilidade como biomarcador de risco na doença coronária

Vascular inflammation plays a crucial role in the pathogenesis of atherosclerosis and mediates various stages of atherosclerotic plaque development, from lipid streak formation to the plaque rupture and destabilization that precedes the clinical syndromes of cardiovascular disease. Inflammatory biomarkers constitute valuable tools to study this process, enabling the effects of different therapeutic interventions to be assessed. Currently, C-reactive protein (CRP) determined by high-sensitivity methods (hs-CRP) is the most extensively studied biomarker. Data regarding hs-CRP and cardiovascular risk, though largely consistent, are of unclear clinical relevance. This article provides a comprehensive review of current knowledge concerning cardiovascular risk and hs-CRP, and concludes with an evidence-based analysis of the current role of hs-CRP in cardiovascular risk assessment.

Carcinoid Heart Disease: Outcome After Balloon Pulmonary Valvuloplasty

Carcinoid heart disease typically presents with pulmonary stenosis and tricuspid regurgitation. Management is intended for symptomatic relief, and valvular intervention is indicated in refractory heart failure. Balloon valvuloplasty is an option for patients not suitable for surgery. We report the case of a patient with a carcinoid tumour, who developed postoperative refractory hypoxemia. Transthoracic echocardiogram revealed carcinoid pulmonary and tricuspid valve disease, with severe pulmonary stenosis. Balloon valvuloplasty was performed with major clinical improvement.

Prevalência de hipertensão arterial em adolescentes portugueses da cidade de Lisboa

AIMS To determine the prevalence of pre-hypertension (pre-HTN) and hypertension (HTN) in Portuguese adolescents in Lisbon and to ascertain the relationship between blood pressure (BP) levels and the risk factors of gender, obesity, smoking, alcohol consumption, exercise and family history of HTN. METHODS This was a cross-sectional study in a non-randomized sample of 234 adolescents of both sexes, aged between 16 and 19 years. Information on habits and family history of HTN was obtained through a self-completed structured questionnaire. RESULTS The study included 234 adolescents, mean age 16.4±0.9 years, 57% male. The prevalence of HTN was 34%, higher in males (44% vs. 21%, p=0.001) and 12% of pre-HTN, higher in females (13% vs. 10%, p=0.001). Higher body mass index was associated with significantly higher prevalence of pre-HTN (normal weight 9.40%, overweight 16.10%, and obesity 22.70%) and HTN (normal weight 30.4%, overweight 45.2%, and obesity 45.5%). With a family history of HTN, the prevalence of HTN and pre-HTN was approximately double (41% vs. 28% and 18% vs. 9%, respectively). Regular exercise, smoking and alcohol consumption were not significantly associated with BP values. CONCLUSION The prevalence of pre-HTN and HTN in the sample studied was high. Of the risk factors evaluated, only gender, obesity and family history of HTN were significantly associated with BP values.

Adult-Onset Still's Disease and Cardiac Tamponade: A Rare Association

Adult-onset Stills disease is a rare disorder with potentially severe clinical features, including cardiac involvement. This systemic inflammatory disease of unknown origin should be considered in the differential diagnosis of pericarditis, with or without pericardial effusion. Cardiac tamponade is a very rare sequela that requires an invasive approach, such as percutaneous or surgical pericardial drainage, in addition to the usual conservative therapy. The authors describe a case of adult-onset Stills disease rendered more difficult by pericarditis and cardiac tamponade, and they briefly review the literature on this entity.

Novel mutation in the KCNH2 gene associated with long QT syndrome

A 37-year-old man was admitted to our department after an episode of rapid regular palpitations, triggered by emotional stress. He had no previous symptoms and was not taking any medication. There was no relevant family history. The first two electrocardiograms documented sinus rhythm and a pattern of abnormal repolarization with STsegment elevation. The corrected QT interval (QTc) was between 428 and 468 ms (Figure 1A and B). Laboratory tests showed no abnormalities and exercise testing was normal. Holter monitoring documented intermittent QTc prolongation (maximum 580 ms), with no other abnormalities. Screening for mutations in the KCNQ1, KCNH2, SCN5A and KCNE1 genes for LQT1, LQT2, LQT3 and LQT5 variants of long QT syndrome (LQTS) revealed a c.529G>T (p.Glu177X) mutation in heterozygosity in the KCNH2 gene of LQT2

P3534Prognostic value of NT-proBNP, adrenomedullin, copeptin and proenkephalin in patients with pulmonary hypertension

Published on behalf of the European Society of Cardiology. All rights reserved.

Response to the Letter to the Editor “Delayed diastolic recovery and more prevalent psychiatric disorders in Takotsubo cardiomyopathy”

© 2016 Sociedade Portuguesa de Cardiologia. Published by Elsevier Espana, S.L.U. All rights reserved.

Natural history of Brugada syndrome in a patient with congenital heart disease

Risk stratification of sudden death in patients with Brugada syndrome (BrS) is a controversial issue, and there is currently no consensus on the best method. Examination of data from the natural history of the disease is of fundamental importance and may help to identify relatives at risk. At the same time, study of the genetic mutations responsible for the disease may also contribute to risk stratification of the syndrome, enabling identification of asymptomatic relatives carrying mutations. This paper presents the case of a young man, aged 26, monitored as a pediatric cardiology outpatient from birth for a simple structural heart defect not requiring surgery. Analysis of the evolution of the patients electrocardiogram revealed the appearance, at the age of 20, of a pattern compatible with type I BrS. Following an episode of syncope and induction of polymorphic ventricular tachycardia in the electrophysiological study, a cardioverter-defibrillator was implanted. One year later, a single shock terminated an episode of ventricular fibrillation. A molecular study of the SCN5A gene identified a rare mutation, c.3622G>T (p.Glu1208X), recently described and associated with more severe phenotypes in patients with BrS, as in the case presented.