Ana Lebreiro

The usefulness of the head-up tilt test in patients with suspected epilepsy.

PURPOSE It is estimated that approximately 20-30% of patients diagnosed with epilepsy have been misdiagnosed, and neurocardiogenic syncope (NCS) might frequently be the real cause of transient loss of consciousness (TLOC) episodes. We assessed the role of the head-up tilt test (HUTT) in patients previously diagnosed with refractory epilepsy to evaluate the ability of this test to correctly diagnose patients with NCS. METHOD We retrospectively analysed the clinical records of 107 consecutive patients with a previous diagnosis of refractory epilepsy that were taking antiepileptic drugs and who were referred for HUTT between January 2000 and December 2010. During the subsequent follow-up, we recorded the treatments performed and the recurrence of symptoms. RESULTS Complete follow-up data were available for 94 (88%) patients, and the mean follow-up period was 80±36 months. The HUTT was positive in 54% of patients. Thirty-one (33%) patients were misdiagnosed with epilepsy, and 20 (21%) patients had a dual diagnosis of NCS and epilepsy. The recurrence of TLOC was reported in 55% of the patients, but it was significantly lower in the misdiagnosed group (42% versus 64%; P=0.039). CONCLUSION NCS is an important cause of epilepsy misdiagnosis. The HUTT is often critical for making an accurate diagnosis and subsequently selecting the appropriate treatment for patients presenting with TLOC. The diagnostic overlap between epilepsy and NCS is not uncommon, suggesting that electroencephalographic monitoring during a HUTT may play an important role in diagnosing patients with recurrent, undiagnosed TLOC episodes.

Statin-Induced Low Cholesterol is Not Associated With Poor Outcome in Chronic Heart Failure

Background: Low cholesterol levels are associated with a worse outcome in patients with heart failure (HF). Use of statins in HF remains controversial. We aimed to assess whether the prognosis of patients with intrinsically low cholesterol levels differed from that of those with pharmacologically induced low cholesterol. Materials and Methods: We conducted a retrospective cohort study on 464 ambulatory patients attending a specialized HF clinic. Patients were cross-classified according to statin therapy and admission total cholesterol level (low cholesterol <150 mg/dL and cholesterol ≥150 mg/dL): (1) low total cholesterol level on statin therapy; (2) low total cholesterol level not taking statins; (3) cholesterol ≥150 mg/dL on statin therapy; and (4) cholesterol ≥150 mg/dL not on statin therapy. Patients were followed up to 5 years and the outcome was all-cause death. A Cox regression analysis was used in prognosis assessment. Results: Almost two thirds of the patients were men and the median population age was 69 years; 22.8% of the patients had preserved ejection fraction and 43.5% severe systolic dysfunction. The patients with an intrinsically low cholesterol had a hazard ratio of all-cause death up to 5 years of 2.38 (1.08-7.14) compared to those with low cholesterol induced by statin use. This association was independent of other variables associated with outcome. Conclusions: Patients with HF with instrisically low cholesterol levels have a double risk of death up to 5 years compared to patients with pharmacologically induced low cholesterol. Clinicians should not limit the use of statins by fear of lowering the cholesterol levels.

Utilidad del diagnóstico molecular en una familia con síndrome de Marfan y un fenotipo vascular atípico

Marfan syndrome is mainly caused by mutations in the FBN1 gene. Diagnosis is usually based on clinical criteria, but the phenotypic presentation varies widely among affected individuals. Aortic dissection or rupture is the cause of death in over 90% of untreated patients. Early identification of individuals at risk is important given the availability of medical and surgical treatment that can significantly improve life-expectancy. Molecular testing could provide an etiologic diagnosis in patients who present with milder or atypical clinical forms of the disease. Moreover, it could contribute to preventive treatment in carriers, inform genetic counseling and offer reassurance to unaffected individuals. By describing a family with Marfan syndrome in whom the disease presented in an atypical aggressive form, this article highlights the value of tests for detecting FBN1 mutations in selected cases.

Transcatheter closure of an iatrogenic aorto‐right ventricular fistula

Aortocardiac fistulas are rare, especially if they develop after an aortic valve replacement surgery. We report the case of a 54‐year‐old male submitted to aortic valve replacement and implantation of an ascending aortic prosthetic graft, complaining of exertional dyspnea, who was found to have significant shunt between the aortic root and right ventricle (RV), and de novo moderate pulmonary hypertension. At the catheterization laboratory, the left‐to‐right shunt was confirmed (Qp:Qs = 1.9:1). Contrast angiography of the ascending aorta showed a significant flow into the right ventricular cavity, and the fistulous tract was then measured, inflating a Tyshak II balloon of 10 × 20 mm (NuMED, Hopkinton, New York), until achieving a complete interruption of flow. Minimal diameter of the defect was 4.9 mm. Percutaneous closure of the aorto‐RV shunt was performed under general anesthesia and transesophageal echocardiogram and fluoroscopic guidance. Using a venous and an arterial femoral access, a 0.035″ hydrophilic guide‐wire crossed the defect between the aorta and RV, creating an arteriovenous loop. Then, using a 7F Delivery System 45° (AGA medical corporation, Golden Valley, MN) an Amplatzer Duct Occluder® (AGA Medical Corporation) 8/6 mm was advanced and released within the defect, achieving an almost complete closure of the fistulous tract.

Atypical ST Segment Elevation and Ventricular Fibrillation without Structural Heart Disease: A New Electrocardiographic Presentation of a Channelopathy?

Primary electrical syndromes are a group of rare inherited diseases that predispose to arrhythmias in the absence of structural abnormalities of the heart, and are associated with several ion channel mutations. Extrinsic factors, such as fever, may contribute to the development of electrical instability in these patients. We report the case of a 52-year-old patient who was admitted for syncope and had an in-hospital episode of ventricular fibrillation, who presented with an admission ECG showing marked precordial ST segment elevation (maximum 5 mm in V2). The patient did not have structural heart disease and during the hospital stay there was progressive ST segment normalization, with features suggestive of Brugada pattern. An automated defibrillator was implanted for secondary prevention of sudden cardiac arrest. We believe that these findings may represent a new form of presentation of a genetic electrical syndrome.

Avaliação ecocardiográfica da dilatação da raiz da aorta em doentes adultos operados a tetralogia de Fallot

INTRODUCTION Transthoracic echocardiography is an important tool after tetralogy of Fallot repair, of which aortic root dilatation is a recognized complication. In this study we aimed to assess its prevalence and potential predictors. METHODS We consecutively assessed adult patients by transthoracic echocardiography after tetralogy of Fallot repair, and divided them into two groups based on the maximum internal aortic diameter at the sinuses of Valsalva in parasternal long-axis view: group 1 with aortic root dilatation (≥38 mm) and group 2 without dilatation (<38 mm). RESULTS A total of 53 patients were included, mean age 32±10 years, with a mean time since surgery of 23±7 years. An aortopulmonary shunt had been performed prior to complete repair in 25 patients, and a transannular patch was used in 19 patients. Aortic root measurement was possible in all patients. Aortic root dilatation was identified in eight patients (15%), all male. Male gender (p=0.001), body surface area (1.93±0.10 vs. 1.70±0.20 m(2), p=0.03) and increased left ventricular end-diastolic diameter (p=0.005) were predictors of aortic root dilatation. None of the surgical variables studied were predictors of aortic root dilatation. CONCLUSIONS The prevalence of aortic root dilatation in this cohort was low and male gender was a predictor of its occurrence. The type of repair and time to surgery did not influence its occurrence. Quantification of aortic root diameter is possible by transthoracic echocardiography; we suggest indexing it to body surface area in clinical practice.

Case reportAn atypical presentation of infective endocarditisApresentação atípica de uma endocardite infecciosa

Infective endocarditis is a well-known clinical entity. However, despite improved diagnostic techniques and advances in treatment options, left-sided native valve infective endocarditis remains a serious disease with high morbidity and mortality, especially in cases caused by Staphylococcus aureus. The clinical heterogeneity of infective endocarditis sometimes prevents rapid recognition, correct diagnosis and timely treatment, which are essential to reduce the morbidity and mortality associated with this disease. We report the case of a 62-year-old man, admitted for atrial fibrillation with complete atrioventricular block, which was found to be the result of methicillin-resistant S. aureus mitral valve endocarditis, complicated by local extension of the infection, heart failure, systemic embolism and multiple organ failure.

Acute coronary syndrome, right ventricular dysfunction and cardiogenic shock: A diagnostic challenge

Right ventricular infarction is uncommon in isolation but can be observed in 50% of cases of inferior wall myocardial infarction. Diagnosis is difficult and suspicion of this condition should always be borne in mind. Progression to cardiogenic shock is not uncommon, when the outcome is similar to left ventricular infarction; mortality can reach 60%. We present the case of a 64-year-old woman with known coronary disease who was admitted to our coronary care unit after an anterior myocardial infarction. Cardiac catheterization showed diffuse stenosis of the left descending and 70% stenosis of the posterior descending arteries. She was surgically revascularized with a favorable evolution, but was later readmitted for acute decompensated heart failure with cardiogenic shock. She was refractory to medical therapy, with biventricular dysfunction on echocardiographic examination. Cardiac magnetic resonance imaging confirmed the diagnosis of right ventricular infarction.

An atypical presentation of infective endocarditis

Infective endocarditis is a well-known clinical entity. However, despite improved diagnostic techniques and advances in treatment options, left-sided native valve infective endocarditis remains a serious disease with high morbidity and mortality, especially in cases caused by Staphylococcus aureus. The clinical heterogeneity of infective endocarditis sometimes prevents rapid recognition, correct diagnosis and timely treatment, which are essential to reduce the morbidity and mortality associated with this disease. We report the case of a 62-year-old man, admitted for atrial fibrillation with complete atrioventricular block, which was found to be the result of methicillin-resistant S. aureus mitral valve endocarditis, complicated by local extension of the infection, heart failure, systemic embolism and multiple organ failure.

Caracterização genotípica de uma população de doentes portugueses com síndrome de Marfan

Resumo Introducao O diagnostico da Sindrome de Marfan (SM) depende fundamentalmente de uma avaliacao clinica multidisciplinar. O seu diagnostico molecular, atraves da identificacao de mutacoes no gene FBN1, pode permitir estabelecer um diagnostico definitivo mesmo perante fenotipos atipicos ou «incompletos» e reconhecer precocemente portadores assintomaticos. Objectivos O presente trabalho teve como objectivo principal avaliar a frequencia e o tipo de mutacoes no gene FBN1, numa populacao de doentes com SM, referenciados a um centro hospitalar de cuidados terciarios, com cirurgia toracica. Metodos A nossa amostra incluiu 30 individuos com SM (provenientes de 14 familias), que foram avaliados em consulta de Cardiologia, Reumatologia e Oftalmologia. Em todos os casos foi efectuada a pesquisa de mutacoes no gene FBN1 a partir de ADN obtido de amostras de sangue periferico, utilizando a tecnica de amplificacao por Polymerase Chain Reaction e posterior sequenciacao genica. Resultados Identificamos 12 mutacoes distintas nas 14 familias estudadas. Destas, apenas duas estavam previamente descritas na literatura, sendo as restantes 10, novas mutacoes. Encontramos mutacoes missense em 36% dos casos e mutacoes conduzindo a formacao de codoes de terminacao prematura em 50% dos casos. Conclusoes Este trabalho constitui a primeira descricao de resultados de analise genotipica em doentes portugueses com SM, de que temos conhecimento. Com este trabalho, realcamos a importância de uma avaliacao clinica multidisciplinar e da utilidade da pesquisa de mutacoes no gene FBN1 em casos seleccionados. Ao descrever 10 novas mutacoes, contribuimos ainda para a ampliacao do espectro de variantes do gene da FBN1 associadas a SM.INTRODUCTION The diagnosis of Marfan syndrome (MFS) depends on a multidisciplinary clinical evaluation. Molecular study to identify mutations in the FBN1 gene can establish a definitive diagnosis even with atypical or «incomplete» phenotypes and enable earlier diagnosis in asymptomatic patients. OBJECTIVES The aim of the present work was to evaluate the frequency and type of FBN1 gene mutations in a population of Marfan syndrome patients referred to a tertiary care center with cardiothoracic surgery. METHODS Our sample included 30 individuals with MFS (from 14 families), evaluated in cardiology, rheumatology and ophthalmology consultations. In all patients, DNA was extracted from a peripheral blood sample and mutation screening of the entire coding sequence of the FBN1 gene was then performed, using the polymerase chain reaction. RESULTS We identified 12 different mutations in the 14 families studied. Of these, only two had been previously described in the literature, while the other 10 were found to be new mutations; 36% of patients carried a missense mutation and 50% carried a mutation leading to a premature termination codon. CONCLUSIONS To the best of our knowledge this is the first genotypic description of Portuguese patients with MFS. In this study, we highlight the need for comprehensive clinical evaluation of these patients and the value of FBN1 mutation analysis in selected cases. By describing 10 new mutations, we have also helped broaden the spectrum of known FBN1 mutations associated with MFS.