Diagnostic challenges of Marfan syndrome in an XYY young man.

Tall stature is a common feature of both Marfan syndrome and XYY syndrome. Differential diagnosis between these entities has important prognostic implications. We report the case of a 21-year-old young man with a previously known diagnosis of XYY syndrome, in whom the identification of a fibrilin-1 mutation was determinant to establish an appropriate diagnosis, medical follow-up, and genetic counselling.

[Genotypic characterization of a Portuguese population of Marfan syndrome patients].

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.

A case-control study of cardiovascular risk factors and cardiovascular risk among patients with schizophrenia in a country in the low cardiovascular risk region of Europe.

Introduction: Patients with serious mental illness have increased cardiovascular risk factors and excess mortality from cardiovascular disease that are in part favored by adverse effects of treatment. Given the wide geographical variation of vascular atherosclerotic disease there is a recognized need for national studies.

Methods: The prevalence of risk factors and estimated absolute and relative cardiovascular risk by means of SCORE risk charts were ascertained in 125 schizophrenia outpatients and 1721 age- and gender-matched primary care center users.

Value of molecular diagnosis in a family with Marfan syndrome and an atypical vascular phenotype.

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.

Marfan syndrome: clinical manifestations, pathophysiology and new outlook on drug therapy.

Marfan Syndrome (MFS) is a genetic disorder of the connective tissue with multisystemic manifestations, which typically involves the skeletal, cardiovascular and ocular systems. It is usually associated with fibrillin-1 (FBN1) gene mutations, an extracellular matrix protein, and its diagnosi requires the presence of several clinical criteria, called the Ghent criteria. Studies with animal models have helped understand some of the pathophysiologic mechanisms of the syndrome, and the core role of transforming growth factor, (TGF-beta) signalling pathways in these mutations.

Effectiveness and safety of levosimendan in clinical practice.

Background: In previous randomized studies levosimendan improved hemodynamics and clinical course, with a still unclear effect on prognosis. There are, however, few data regarding its effects when used in daily practice.

Aims: We evaluated the clinical effectiveness and safety of levosimendan in the treatment of acute systolic heart failure (SHF) in daily practice conditions.

Portuguese study of familial dilated cardiomyopathy: the FATIMA study.

Dilated cardiomyopathy (DCM) is a myocardial disease, characterized by ventricular dilatation and impaired systolic function, that in more than 30% of cases has a familial or genetic origin. Given its age-dependent penetrance, DCM frequently manifests in adults by signs or symptoms of heart failure, arrhythmias or sudden death. The predominant mode of inheritance is autosomal dominant, and in these cases mutations are identified in genes coding for cytoskeletal, sarcomeric or nuclear envelope proteins.

Depressive symptoms and heart failure stages.

The authors measured depressive symptoms cross-sectionally, across evolving stages of heart failure as defined by the American College of Cardiology, from low risk, through high risk for heart failure (Stage A), asymptomatic cardiac dysfunction (Stage B), up to symptomatic heart failure (Stage C), in a community sample of 338 noninstitutionalized adults age >or=45 years. Depressive symptoms were measured with the Beck Depression Inventory (BDI). Women scored significantly higher on the BDI.

Health-related quality of life and stages of heart failure.

Background: To estimate the impact on quality of life of evolving stages of heart failure in a community sample of Portuguese adults.

Methods: Cross-sectional evaluation of 424 adults aged >/=45 years. Subjects were classified in stages defined by the American College of Cardiology: low risk, high risk for heart failure (stage A), asymptomatic cardiac dysfunction (stage B), symptomatic heart failure (stage C).

Increasing number of components of the metabolic syndrome and cardiac structural and functional abnormalities--cross-sectional study of the general population.

Background: We aimed to assess whether we could identify a graded association between increasing number of components of the metabolic syndrome and cardiac structural and functional abnormalities independently of predicted risk of coronary heart disease by the Framingham risk score.

Methods: We conducted a cross-sectional study on a random sample of the urban population of Porto aged 45 years or over. Six hundred and eighty-four participants were included.

Clinical syndrome suggestive of heart failure is frequently attributable to non-cardiac disorders--population-based study.

Aim: To assess how often the clinical syndrome (CS) of heart failure is attributable to alternative, including non-cardiac, explanations.

Methods And Results: Cross-sectional evaluation of 739 community participants aged>or=45 years. Subjects with >or=2 symptoms or signs (dyspnoea or fatigue, orthopnoea, nocturnal paroxysmal dyspnoea, third heart sound, jugular venous distension, rales and lower limb oedema) or who were receiving loop diuretics were considered to have the clinical syndrome of heart failure.

Familial dilated cardiomyopathy with troponin T K210del mutation.

Background: It has been estimated that more than 30% of patients with idiopathic dilated cardiomyopathy have a familial form of the disease. The most frequent pattern of inheritance is autosomal dominant and several genes or loci have been implicated, coding for sarcomeric or cytoskeleton proteins. Most of the genotype-phenotype correlations are still under study, but a particular mutation, K210del in the troponin T gene, has been identified in four different families with severe forms of DCM.

Heart transplantation. A Portuguese hospital center's experience.

Cardiac transplantation is the gold standard therapy for patients below 60 years presenting with severe heart failure (HF) despite maximal medical therapy, who have no other surgical option and no contraindications to this procedure. We evaluated our experience with this important form of heart failure therapy. Between February 1987 and December 2002, 32 patients, aged 37 +/- 16 years, 19 males, with ejection fraction of 18 +/- 7%, underwent heart transplantation in our center.

[Endothelin system and heart failure: a potential therapeutic target].

Neurohormonal activation is a marker and one of the most important pathophysiologic aspects of heart failure. The hyperactivation and participation of the endothelin system in several manifestations of this syndrome have been widely documented in the last few years. These data support attempts to view the endothelin system as a potential pharmacological target in order to reduce the high morbidity and mortality associated with heart failure.

[Autonomic nervous system in heart failure].

The autonomic nervous system (ANS), a complex and self-organized entity, plays a crucial role in cardiovascular regulation. In this review, the authors describe some concepts of anatomo-physiology and cellular/molecular biology of the ANS and of its two major components, the parasympathetic and sympathetic system, both in the normal individual and in the patient with heart failure. Adrenergic and cholinergic neurotransmission, neurotransmitters, adrenergic and cholinergic receptors and intracellular signal transduction are discussed.

B-type natriuretic peptide and left ventricular hypertrophy in hypertensive patients.

Aim: To assess the accuracy of B-type natriuretic peptide (BNP) plasma levels for the diagnosis of left ventricular hypertrophy (LVH) in hypertensive patients.

Participants And Methods: We studied a sample of 409 adults aged 45 years or older, recruited from residents of Porto by random digit dialing. Data were collected by clinical interview and physical examination, ECG, echocardiogram and venous blood sampling for the measurement of plasma concentrations of BNP.

Cardiac troponin I in aortic valve disease.

Background: Plasma cardiac troponin I levels may be higher than normal in conditions other than ischemic heart disease. We aimed at measuring troponin I levels in aortic valve patients, in which increased values for left ventricular dimensions and pressure are frequently found.

Methods: Plasma levels of troponin I, creatine kinase (CK) and the MB fraction of the same enzyme were measured in a group of 25 clinically stable aortic valve patients.

Familial dilated cardiomyopathy.

Dilated cardiomyopathy is a disorder affecting heart muscle, characterized by ventricular dilation and reduced systolic function. It represents the most common cause of heart failure. Until recently, dilated cardiomyopathy was considered an exclusively sporadic and idiopathic disease.

Chronic left ventricular pseudoaneurism.

We present the case of a 70-year-old white male presenting with an abnormal cardiac silhouette on the chest X-ray and complaining of fatigue in the week before hospital admission. Four months before admission he had a single prolonged ischemic chest pain episode. The ECG revealed an old true posterior myocardial infarction.