A5012784898- Cardiomyopathy and Myosin Studies
- Cardiovascular Function and Risk Factors
- Heart Failure Treatment and Management
- Trypanosoma species research and implications
- Cardiac pacing and defibrillation studies
- Cardiovascular Effects of Exercise
- Cardiac tumors and thrombi
- Blood Pressure and Hypertension Studies
- Congenital heart defects research
- Cardiac Valve Diseases and Treatments
- Cardiac Imaging and Diagnostics
- Cardiac Arrhythmias and Treatments
- Cardiac Structural Anomalies and Repair
- Health Systems, Economic Evaluations, Quality of Life
- Lysosomal Storage Disorders Research
- Muscle Physiology and Disorders
- Atrial Fibrillation Management and Outcomes
- HIV-related health complications and treatments
- Vascular Tumors and Angiosarcomas
- Parathyroid Disorders and Treatments
- Viral Infections and Immunology Research
- Cardiac electrophysiology and arrhythmias
- Studies on Chitinases and Chitosanases
- Pericarditis and Cardiac Tamponade
- Cardiac, Anesthesia and Surgical Outcomes
University of Lisbon
2012-2018
Hospital de Santa Maria
1986-2017
Sociedade Portuguesa de Cardiologia
2008-2017
Hospital of St. Francis Xavier
2007
Hammersmith Hospital
1974
Background The European Society of Cardiology (ESC) has published guidelines for the investigation patients with suspected heart failure and, if diagnosis is proven, their subsequent management. Hospitalisation provides a key point care at which time and treatment may be refined to improve outcome group high morbidity mortality. However, little international data exists describe features management such patients. Accordingly, EuroHeart Failure survey was conducted ascertain appropriate tests...
Background National surveys suggest that treatment of heart failure in daily practice differs from guidelines and is characterized by underuse recommended medications. Accordingly, the Euro Heart Failure Survey was conducted to ascertain how patients hospitalized for are managed Europe if national variations occur this condition.
Dilated cardiomyopathy (DCM) is a major cause of heart failure with high familial recurrence risk. So far, the genetics DCM remains largely unresolved. We conducted first genome-wide association study (GWAS) to identify loci contributing sporadic DCM. One thousand one hundred and seventy-nine patients 1108 controls contributed discovery phase. Pools DNA stratified on disease status, population, age, gender were constituted used for testing 517 382 single nucleotide polymorphisms (SNPs)....
Hypertrophic cardiomyopathy (HCM) is characterized by asymmetric left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. HCM caused mutations in sarcomeric genes, but >40% of patients, the mutation not yet identified. We hypothesized that FHL1, encoding four-and-a-half-LIM domains 1, could be another disease gene since it has been shown to cause distinct myopathies, sometimes associated with cardiomyopathy. evaluated 121 devoid a known genes. identified three novel...
Abstract Background: The EUROHEART programme is a rolling of cardiovascular surveys among the member nations European Society Cardiology (ESC). These will provide information on nature disease and its management. This manuscript describes survey into management heart failure. Aims: Euroheart Failure aims to describe quality hospital care, diagnostic therapeutic, for patients with suspected or confirmed failure in ESC countries. Patients be interviewed subsequent discharge assess their...
Sarcomeric hypertrophic cardiomyopathy has heterogeneous phenotypic expressions, of which sudden cardiac death is the most feared. A genetic diagnosis essential to identify subjects at risk in each family. The spectrum disease-causing mutations Portuguese population unknown.Seventy-seven unrelated probands with were systematically screened for by PCR and sequencing five sarcomeric genes: MYBPC3, MYH7, TNNT2, TNNI3 MYL2. Familial cosegregation analysis was performed patients.Thirty-four...
We report the results of Portuguese Registry Hypertrophic Cardiomyopathy, an initiative that reflects current spectrum cardiology centers throughout territory Portugal. A direct invitation to participate was sent departments. Baseline and outcome data were collected. total 29 participated 1042 patients recruited. Four recruited 49% patients, whom 59% male, mean age at diagnosis 53±16 years. cardiomyopathy (HCM) identified as familial in 33%. The major reason for symptoms (53%). HCM...
Abstract Background Hypertrophic Cardiomyopathy (HCM) is a complex myocardial disorder with recognized genetic heterogeneity. The elevated number of genes and mutations involved in HCM limits gene-based diagnosis that should be considered most importance for basic research clinical medicine. Methodology In this report, we evaluated High Resolution Melting (HRM) robustness, regarding testing, by means analyzing 28 HCM-associated genes, including the frequent 4 sarcomere as well 24 lower...
Forty patients, 30 men and 10 women with an average age of 38.47 ± 11.07 years, suffering from ankylosing spondylitis attending a Rheumatology Outpatient Clinic, were evaluated for cardiovascular involvement. The evaluation was based on patients' clinical observation, electrocardiography, echocardiography, chest x-ray. More than simple review, this study undertaken the aim arriving at better definition manifestations found in spondylitis. In fact, 40 8 (20%) had systemic hypertension which...
Sarcomeric hypertrophic cardiomyopathy (HCM) is the most common genetic cause of unexplained left ventricular hypertrophy and has no specific treatment. Anderson-Fabry disease (AFD) rare usually multisystemic, but occasionally expresses clinically as a predominantly cardiac phenotype mimicking HCM. We describe an illustrative case patient followed regularly for 25 years with diagnosis familial HCM identified sarcomeric mutations. Next-generation sequencing analysis novel pathogenic mutation...
In adults, unexplained left ventricular hypertrophy is usually due to sarcomeric hypertrophic cardiomyopathy (HCM). Fabry disease (FD) rare but may mimic HCM, and has an adverse prognosis in the absence of specific treatment. We aimed assess cardiologists' awareness FD based on data from Portuguese Registry Hypertrophic Cardiomyopathy. A total 811 index patients, aged 55 ± 16 years, 486 (59.9%) male, were included. Three groups characterized: – 128 74 (57.8%) with pathogenic or likely...
Sarcomeric hypertrophic cardiomyopathy has heterogeneous phenotypic expressions, of which sudden cardiac death is the most feared. A genetic diagnosis essential to identify subjects at risk in each family. The spectrum disease-causing mutations Portuguese population unknown. Seventy-seven unrelated probands with were systematically screened for by PCR and sequencing five sarcomeric genes: MYBPC3, MYH7, TNNT2, TNNI3 MYL2. Familial cosegregation analysis was performed patients. Thirty-four...