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1.
Coron Artery Dis ; 35(4): 322-327, 2024 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-38411246

RESUMO

BACKGROUND: The shock index (SI), reflecting heart rate (HR) to SBP ratio, is established for predicting adverse outcomes in acute coronary syndrome (ACS) patients. Exploring the age shock index (ASI), obtained by multiplying SI with age, could offer further insights into ACS prognosis. OBJECTIVES: Assess ASI's effectiveness in predicting in-hospital death in individuals with ACS. METHODS: This study encompassed patients with acute myocardial infarction, drawn from a national registry spanning October 2010 to January 2022. The optimal ASI threshold was established using receiver operating characteristic (ROC) curve analysis. The primary outcome was in-hospital mortality. RESULTS: A total of 27 312 patients were enrolled, exhibiting a mean age of 66 ±â€…13 years, with 72.3% being male and 47.5% having ST-elevation myocardial infarction. ROC analysis yielded an area under the curve (AUC) of 0.80, identifying the optimal ASI cutoff as 44. Multivariate regression analysis, adjusting for potential confounders, established ASI ≥ 44 as an independent predictor of in-hospital death [hazard ratio: 3.09, 95% confidence interval: 2.56-3.71, P  < 0.001]. Furthermore, ASI emerged as a notably superior predictor of in-hospital death compared to the SI (AUC ASI  = 0.80 vs. AUC SI  = 0.72, P  < 0.0001), though it did not outperform the Global Registry of Acute Coronary Events (GRACE) score (AUC ASI  = 0.80 vs. AUC GRACE  = 0.85, P  < 0.001) or thrombolysis in myocardial infarction (TIMI) risk index (AUC ASI  = 0.80 vs. AUC TIMI  = 0.84, P  < 0.001). CONCLUSION: The ASI offers an expedient mean to promptly identify ACS patients at elevated risk of in-hospital death. Its simplicity and effectiveness could render it a valuable tool for early risk stratification in this population.


Assuntos
Síndrome Coronariana Aguda , Mortalidade Hospitalar , Sistema de Registros , Humanos , Masculino , Feminino , Síndrome Coronariana Aguda/mortalidade , Síndrome Coronariana Aguda/complicações , Síndrome Coronariana Aguda/diagnóstico , Idoso , Pessoa de Meia-Idade , Medição de Risco/métodos , Prognóstico , Fatores Etários , Fatores de Risco , Frequência Cardíaca/fisiologia , Valor Preditivo dos Testes , Infarto do Miocárdio com Supradesnível do Segmento ST/mortalidade , Infarto do Miocárdio com Supradesnível do Segmento ST/diagnóstico , Infarto do Miocárdio com Supradesnível do Segmento ST/fisiopatologia , Infarto do Miocárdio com Supradesnível do Segmento ST/terapia , Curva ROC , Pressão Sanguínea
3.
Rev Port Cardiol (Engl Ed) ; 39(3): 123-131, 2020 Mar.
Artigo em Inglês, Português | MEDLINE | ID: mdl-32387056

RESUMO

INTRODUCTION: Early reperfusion for patients with ST-segment elevation myocardial infarction (STEMI) is indicated by the European Society of Cardiology, while a timely invasive strategy is recommended for patients with high-risk and intermediate-risk non-ST-elevation acute coronary syndromes (NSTE-ACS). This study aims to assess patient and system delays according to diagnosis and risk profile, and to identify predictors of prolonged delay. METHODS: We assembled a cohort of patients (n=939) consecutively admitted to the cardiology department of two hospitals, one in the metropolitan area of Porto and one in the north-east region of Portugal, between August 2013 and December 2014. RESULTS: The proportion of patients with time from symptom onset to first medical contact (FMC) ≥120 min was highest among high-risk NSTE-ACS (57.7%), followed by intermediate-risk NSTE-ACS (52.1%) and STEMI (43.3%). Regardless of diagnosis and risk stratification, use of own transportation and inability to interpret cardiac symptoms correctly were associated with prolonged delays. Regarding system delays, we found that 78.0% of patients with STEMI and 65.8% of patients with high-risk NSTE-ACS were treated in a timeframe exceeding the recommended limits. Admission to a non-percutaneous coronary intervention-capable hospital, admission on weekends and complications at admission were associated with prolonged delays to treatment. CONCLUSIONS: Due to both patient and system delays, a large proportion of STEMI and high-risk NSTE-ACS patients still fail to have access to timely reperfusion.


Assuntos
Síndrome Coronariana Aguda/diagnóstico , Intervenção Coronária Percutânea/métodos , Infarto do Miocárdio com Supradesnível do Segmento ST/diagnóstico , Tempo para o Tratamento/estatística & dados numéricos , Síndrome Coronariana Aguda/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Feminino , Hospitalização/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Reperfusão Miocárdica/normas , Intervenção Coronária Percutânea/estatística & dados numéricos , Portugal/epidemiologia , Estudos Prospectivos , Medição de Risco , Infarto do Miocárdio com Supradesnível do Segmento ST/cirurgia , Tempo para o Tratamento/tendências
4.
Rev. esp. cardiol. (Ed. impr.) ; 72(7): 543-552, jul. 2019. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-188551

RESUMO

Introducción y objetivos: A pesar de una mayor conciencia de las disparidades en el tratamiento y los resultados entre mujeres y varones con infarto agudo de miocardio (IAM), no parece que en la última década se hayan atenuado estas diferencias. El objetivo del estudio es identificar diferencias por sexo en el tratamiento y la mortalidad a 30 días utilizando los indicadores de calidad de la Asociación de Cuidados Cardiovasculares Agudos de la Sociedad Europea de Cardiología para el IAM. Métodos: Se calcularon las proporciones y los errores estándar de los 20 indicadores de calidad en 771 pacientes con IAM que ingresaron en el servicio de cardiología de 2 hospitales terciarios en Portugal entre agosto de 2013 y diciembre de 2014. La asociación entre el indicador de calidad compuesto y la mortalidad a 30 días se analizó por regresión logística. Resultados: Significativamente menos mujeres que varones elegibles recibieron una reperfusión oportuna, tratamiento antiagregante plaquetario doble y estatinas de alta intensidad al alta y rehabilitación cardiaca. Las mujeres recibieron con menos frecuencia las intervenciones recomendadas (el 59,6 frente al 65,2%; p < 0,001) y también tuvieron una puntuación más alta del riesgo GRACE 2.0 ajustado por la mortalidad a 30 días (el 3,0 frente al 1,7%; p < 0,001). Se observó una asociación inversa entre el indicador de calidad compuesto y la mortalidad bruta a 30 días en ambos sexos (tercil de mayor rendimiento en comparación con el menor, OR = 0,08; IC95%, 0,01-0,64). Conclusiones: El porcentaje de mujeres que recibieron tratamiento óptimo en el IAM fue menor que el de varones y se asoció con una mayor mortalidad a los 30 días. Los indicadores de calidad basados en directrices tienen el potencial de mejorar la prestación y el pronóstico de la atención médica de los pacientes con IAM en general y también de reducir la brecha entre mujeres y varones


Introduction and objectives: Despite increased awareness of sex disparities in care and outcomes of acute myocardial infarction (AMI), there appears to have been no consistent attenuation of these differences over the last decade. We investigated differences by sex in management and 30-day mortality using the European Society of Cardiology Acute Cardiovascular Care Association quality indicators (QIs) for AMI. Methods: Proportions and standard errors of the 20 Acute Cardiovascular Care Association QIs were calculated for 771 patients with AMI who were admitted to the cardiology departments of 2 tertiary hospitals in Portugal between August 2013 and December 2014. The association between the composite QI and 30-day mortality was derived from logistic regression. Results: Significantly fewer eligible women than men received timely reperfusion, were discharged on dual antiplatelet therapy and high-intensity statins, and were referred to cardiac rehabilitation. Women were less likely to receive recommended interventions (59.6% vs 65.2%; P < .001) and also had higher mean GRACE 2.0 risk score-adjusted 30-day mortality (3.0% vs 1.7%; P < .001). An inverse association between the composite QI and crude 30-day mortality was observed for both sexes (OR, 0.08; 95%CI, 0.01-0.64 for the highest performance tertile vs the lowest). Conclusions: Performance in AMI management is worse for women than men and is associated with higher 30-day mortality, which is also worse for women. Evidence-based QIs have the potential to improve health care delivery and patient prognosis in the overall AMI population and may also bridge the disparity gap between women and men


Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Qualidade da Assistência à Saúde/estatística & dados numéricos , Infarto do Miocárdio/mortalidade , Inibidores de Hidroximetilglutaril-CoA Redutases/uso terapêutico , Reperfusão Miocárdica/estatística & dados numéricos , Inibidores da Agregação Plaquetária/uso terapêutico , Distribuição por Sexo , Indicadores de Qualidade em Assistência à Saúde/estatística & dados numéricos , Atenção Terciária à Saúde/estatística & dados numéricos
5.
Rev Esp Cardiol (Engl Ed) ; 72(7): 543-552, 2019 Jul.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29980406

RESUMO

INTRODUCTION AND OBJECTIVES: Despite increased awareness of sex disparities in care and outcomes of acute myocardial infarction (AMI), there appears to have been no consistent attenuation of these differences over the last decade. We investigated differences by sex in management and 30-day mortality using the European Society of Cardiology Acute Cardiovascular Care Association quality indicators (QIs) for AMI. METHODS: Proportions and standard errors of the 20 Acute Cardiovascular Care Association QIs were calculated for 771 patients with AMI who were admitted to the cardiology departments of 2 tertiary hospitals in Portugal between August 2013 and December 2014. The association between the composite QI and 30-day mortality was derived from logistic regression. RESULTS: Significantly fewer eligible women than men received timely reperfusion, were discharged on dual antiplatelet therapy and high-intensity statins, and were referred to cardiac rehabilitation. Women were less likely to receive recommended interventions (59.6% vs 65.2%; P <.001) and also had higher mean GRACE 2.0 risk score-adjusted 30-day mortality (3.0% vs 1.7%; P <.001). An inverse association between the composite QI and crude 30-day mortality was observed for both sexes (OR, 0.08; 95%CI, 0.01-0.64 for the highest performance tertile vs the lowest). CONCLUSIONS: Performance in AMI management is worse for women than men and is associated with higher 30-day mortality, which is also worse for women. Evidence-based QIs have the potential to improve health care delivery and patient prognosis in the overall AMI population and may also bridge the disparity gap between women and men.


Assuntos
Gerenciamento Clínico , Hospitalização/tendências , Infarto do Miocárdio/terapia , Reperfusão Miocárdica/normas , Qualidade da Assistência à Saúde , Sistema de Registros , Terapia Trombolítica/normas , Idoso , Feminino , Seguimentos , Mortalidade Hospitalar , Humanos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/mortalidade , Portugal/epidemiologia , Prognóstico , Estudos Retrospectivos , Fatores Sexuais , Taxa de Sobrevida/tendências
6.
BMJ Open ; 8(2): e018798, 2018 02 23.
Artigo em Inglês | MEDLINE | ID: mdl-29476027

RESUMO

OBJECTIVES: Prompt diagnosis of acute coronary syndrome (ACS) remains a challenge, with presenting symptoms affecting the diagnosis algorithm and, consequently, management and outcomes. This study aimed to identify sex differences in presenting symptoms of ACS. DESIGN: Data were collected within a prospective cohort study (EPIHeart). SETTING: Patients with confirmed diagnosis of type 1 (primary spontaneous) ACS who were consecutively admitted to the Cardiology Department of two tertiary hospitals in Portugal between August 2013 and December 2014. PARTICIPANTS: Presenting symptoms of 873 patients (227 women) were obtained through a face-to-face interview. OUTCOME MEASURES: Typical pain was defined according to the definition of cardiology societies. Clusters of symptoms other than pain were identified by latent class analysis. Logistic regression was used to quantify differences in presentation of ACS symptoms by sex. RESULTS: Chest pain was reported by 82% of patients, with no differences in frequency or location between sexes. Women were more likely to feel pain with an intensity higher than 8/10 and this association was stronger for patients aged under 65 years (interaction P=0.028). Referred pain was also more likely in women, particularly pain referred to typical and atypical locations simultaneously. The multiple symptoms cluster, which was characterised by a high probability of presenting with all symptoms, was almost fourfold more prevalent in women (3.92, 95% CI 2.21 to 6.98). Presentation with this cluster was associated with a higher 30-day mortality rate adjusted for the GRACE V.2.0 risk score (4.9% vs 0.9% for the two other clusters, P<0.001). CONCLUSIONS: While there are no significant differences in the frequency or location of pain between sexes, women are more likely to feel pain of higher intensity and to present with referred pain and symptoms other than pain. Knowledge of these ACS presentation profiles is important for health policy decisions and clinical practice.


Assuntos
Síndrome Coronariana Aguda/diagnóstico , Síndrome Coronariana Aguda/fisiopatologia , Dor no Peito/epidemiologia , Fatores Sexuais , Síndrome Coronariana Aguda/mortalidade , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Portugal/epidemiologia , Prevalência , Estudos Prospectivos , Fatores de Risco , Índice de Gravidade de Doença , Classe Social , Fatores de Tempo
7.
BMJ Open ; 8(1): e018934, 2018 01 03.
Artigo em Inglês | MEDLINE | ID: mdl-29301762

RESUMO

OBJECTIVES: To estimate cardiac rehabilitation (CR) referral and participation rates among patients with acute coronary syndrome (ACS) and to identify their determinants, in two Portuguese regions. DESIGN: Prospective cohort study. SETTING: Patients consecutively admitted to the cardiology department of two hospitals, one in the district of Porto and one in the north-east region (NER) of Portugal, were enrolled in the EPIHeart cohort and then followed up for 6 months. PARTICIPANTS: Between August 2013 and December 2014, 939 patients were included in the cohort, and 853 were re-evaluated at 6-month follow-up. OUTCOME MEASURES: Referral rate was defined as the proportion of eligible patients who were referred to a CR programme, whereas participation rate was defined as the proportion of eligible patients who completed a CR programme, as was recommended by their physicians. RESULTS: Patients referred were 32.3% and 10.7% of those eligible in Porto and NER, respectively. In both regions, referral to CR decreased with age and with longer travel times to CR centres and increased with education or social class. At follow-up, 128 patients from Porto (26.2% of those eligible and 81.0% of those referred) and 26 from NER (7.1% of those eligible and 66.7% of those referred) reported actually participating in a CR programme. In Porto, the main barriers to participation were the long time until a programme was available and lack of perceived benefit. Patients in NER identified distance to CR and costs as the main barriers. CONCLUSIONS: CR remains clearly underused in Portugal, with major inequalities in access between regions. Achieving equitable and greater use of CR requires a multilevel approach addressing barriers related to healthcare system, providers and patients in order to improve provision, referral and participation.


Assuntos
Síndrome Coronariana Aguda/reabilitação , Reabilitação Cardíaca , Acessibilidade aos Serviços de Saúde , Participação do Paciente/estatística & dados numéricos , Encaminhamento e Consulta/estatística & dados numéricos , Fatores Socioeconômicos , Idoso , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Portugal , Estudos Prospectivos , Centros de Reabilitação
8.
Cardiology ; 139(2): 71-82, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29275403

RESUMO

OBJECTIVES: The aim of this study was to assess the proportion of patients with a first episode of acute coronary syndrome (ACS) reporting preceding chest pain, having previously sought medical care and undergone the performance of exams, and to identify the determinants of seeking medical advice and undergoing electrocardiogram (ECG). METHODS: Within a cohort study, 690 patients with a first episode of ACS were evaluated. A questionnaire was applied to assess chest pain within the preceding 6 months of the event and health system resources utilization. Determinants were identified by logistic regression. RESULTS: Preceding chest pain was reported by 61% of patients, 43% of these sought medical help, of whom less than half underwent ECG, and in 39% pain was attributed to a problem of the heart. Patients with hypertension were more likely to seek medical care (adjusted odds ratio, OR, 2.13, 95% CI 1.29-3.51), and former smokers (OR 0.52, 95% CI 0.28-0.99) and patients of a higher social class (OR 0.16, 95% CI 0.05-0.48) were less likely to seek medical care. The performance of ECG was associated with male sex (OR 2.56, 95% CI 1.11-5.87), health subsystem coverage (OR 3.88, 95% CI 1.11-13.53), and living in the northeastern region (OR 9.07, 95% CI 4.07-20.24), whereas cognitive impairment (OR 0.37, 95% CI 0.15-0.92) and being employed (OR 0.36, 95% CI 0.14-0.97) were inversely associated. CONCLUSIONS: These results suggest there are opportunities to improve the diagnosis of myocardial ischemia before acute coronary events.


Assuntos
Síndrome Coronariana Aguda/epidemiologia , Dor no Peito/epidemiologia , Eletrocardiografia/estatística & dados numéricos , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Portugal/epidemiologia , Estudos Prospectivos
10.
Am J Cardiol ; 117(7): 1084-7, 2016 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-26857162

RESUMO

The effect of obstructive sleep apnea (OSA) on clinical outcomes after acute coronary syndrome (ACS) is incompletely defined. We sought to determine the prevalence of OSA in patients with ACS and evaluate prognostic impact of OSA and continuous positive airway pressure (CPAP) therapy in these patients. This was a prospective longitudinal cohort study of 73 patients admitted on cardiac intensive care unit for ACS. Cardiorespiratory sleep study and/or polysomnography were performed in all patients. CPAP was recommended if Apnea-Hypopnea Index ≥5. The main study outcome was a composite of death for any cause, myocardial infarction, and myocardial revascularization. OSA was diagnosed in 46 patients (63%). Age and cardiovascular risk factors were not significantly different between groups. OSA was classified as mild (m-OSA) in 14 patients (30%) and as moderate-to-severe (s-OSA) in 32 patients (70%). After a median follow-up of 75 months (interquartile range 71 to 79), patients with s-OSA had lower event-free survival rate. After adjustment for gender, patients with s-OSA showed a significantly higher incidence of the composite end point (hazard ratio 3.58, 95% CI 1.09 to 17.73, p = 0.035). Adherence to CPAP occurred in 19 patients (41%), but compliance to CPAP therapy did not reduce the risk of composite end point (hazard ratio 0.87, 95% CI 0.31 to 2.46, p = 0.798). In conclusion, OSA is an underdiagnosed disease with high prevalence in patients with ACS. It is urgent to establish screening protocols because those have high diagnostic yield and allow identifying a group of patients with manifestly unfavorable prognosis.


Assuntos
Síndrome Coronariana Aguda/complicações , Apneia Obstrutiva do Sono/diagnóstico , Apneia Obstrutiva do Sono/epidemiologia , Síndrome Coronariana Aguda/mortalidade , Síndrome Coronariana Aguda/terapia , Idoso , Estudos de Coortes , Pressão Positiva Contínua nas Vias Aéreas , Cuidados Críticos , Feminino , Humanos , Incidência , Masculino , Pessoa de Meia-Idade , Prevalência , Prognóstico , Apneia Obstrutiva do Sono/terapia , Análise de Sobrevida
11.
Arq Bras Cardiol ; 105(2): 139-44, 2015 Aug.
Artigo em Inglês, Português | MEDLINE | ID: mdl-26269958

RESUMO

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).


Assuntos
Doença de Fabry/enzimologia , Doença de Fabry/epidemiologia , Hipertrofia Ventricular Esquerda/enzimologia , Hipertrofia Ventricular Esquerda/epidemiologia , Mutação , alfa-Galactosidase/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Teste em Amostras de Sangue Seco , Feminino , Estudos de Associação Genética , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Portugal/epidemiologia , Prevalência , alfa-Galactosidase/sangue
12.
Arq. bras. cardiol ; 105(2): 139-144, Aug. 2015. ilus
Artigo em Inglês | LILACS | ID: lil-758001

RESUMO

AbstractBackground: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).


ResumoFundamento:A doença de Fabry é uma doença lisossomal de sobrecarga provocada pela deficiência da enzima α-galactosidase A como resultado de mutações no gene GLA. O envolvimento cardíaco carateriza-se por hipertrofia ventricular esquerda progressiva.Objetivo:Estimar a prevalência da doença de Fabry numa população com hipertrofia ventricular esquerda.Métodos:Os doentes foram avaliados para a presença de hipertrofia ventricular esquerda definida por massa do ventrículo esquerdo indexada como ≥ 96 g/m2 para mulheres ou ≥ 116 g/m2 para homens. Estenose aórtica severa e hipertensão arterial, com hipertrofia ventricular esquerda discreta, foram critério de exclusão. Todos os doentes incluídos foram avaliados para a atividade da enzima α-galactosidase A com testes de gota seca. No caso de atividade enzimática diminuída, realizava-se estudo genético.Resultados:Foram incluídos 47 doentes com uma média de massa indexada de 141,1 g/m2 (± 28,5; 99,2 a 228,5 g/m2]. A maioria (51,1%) dos doentes era do sexo feminino. Nove deles (19,1%) tinham diminuição da atividade da α-galactosidase A, mas apenas um teste genético foi positivo − [GLA] c.785G>T; p.W262L (éxon 5), uma mutação não descrita na literatura. O trabalho de investigação clínica permitiu estabelecer uma associação entre a mutação e a apresentação clínica.Conclusão:Em uma população de doentes com hipertrofia ventricular esquerda, documentamos uma prevalência de doença de Fabry de 2,1%. O novo caso foi definido na sequência de uma mutação de significado indeterminado no gene GLA com posterior estudo de patogenicidade. Este estudo permitiu, assim, definir uma nova mutação causal para doença de Fabry - [GLA] c.785G>T; p.W262L (éxon 5).


Assuntos
Adulto , Idoso , Idoso de 80 Anos ou mais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Fabry/enzimologia , Doença de Fabry/epidemiologia , Hipertrofia Ventricular Esquerda/enzimologia , Hipertrofia Ventricular Esquerda/epidemiologia , Mutação , alfa-Galactosidase/genética , Teste em Amostras de Sangue Seco , Estudos de Associação Genética , Testes Genéticos , Prevalência , Portugal/epidemiologia , alfa-Galactosidase/sangue
15.
Rev Port Cardiol ; 32(9): 713-6, 2013 Sep.
Artigo em Português | MEDLINE | ID: mdl-24007878

RESUMO

Primary cardiac tumors are rare, with an incidence ranging from 0.0001% to 0.030%; 80% are benign, while sarcomas account for 95% of malignant tumors. The authors report the case of a 75-year-old patient with a giant mass in the left atrium. The final diagnosis was of an undifferentiated cardiac sarcoma. This tumor represents a real challenge not only for timely diagnosis, but especially the therapeutic approach to adopt.


Assuntos
Átrios do Coração , Neoplasias Cardíacas/patologia , Sarcoma/patologia , Idoso , Feminino , Humanos
18.
Rev Port Cardiol ; 32(3): 253-6, 2013 Mar.
Artigo em Português | MEDLINE | ID: mdl-23317686

RESUMO

We present a case of acute heart failure as the first manifestation of Graves' disease. It illustrates some of its cardiovascular complications, particularly atrial fibrillation, pulmonary hypertension and heart failure. This case report highlights the importance of considering hyperthyroidism as a cause of idiopathic pulmonary hypertension, and demonstrates the potential reversibility of its complications.


Assuntos
Insuficiência Cardíaca/complicações , Hipertensão Pulmonar/complicações , Hipertireoidismo/complicações , Adulto , Feminino , Humanos
20.
Rev Port Cardiol ; 31(2): 167-9, 2012 Feb.
Artigo em Português | MEDLINE | ID: mdl-22222061

RESUMO

Zolmitriptan is a drug used in the acute treatment of migraine, which should not be used in high cardiovascular risk individuals because of its potential to induce vasospasm. We report a rare case of myocardial infarction precipitated by taking zolmitriptan.


Assuntos
Infarto do Miocárdio/induzido quimicamente , Oxazolidinonas/efeitos adversos , Agonistas do Receptor 5-HT1 de Serotonina/efeitos adversos , Triptaminas/efeitos adversos , Idoso , Humanos , Masculino
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