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1.
Eur J Heart Fail ; 21(5): 553-576, 2019 May.
Artigo em Inglês | MEDLINE | ID: mdl-30989768

RESUMO

Cardiomyopathies are a heterogeneous group of heart muscle diseases and an important cause of heart failure (HF). Current knowledge on incidence, pathophysiology and natural history of HF in cardiomyopathies is limited, and distinct features of their therapeutic responses have not been systematically addressed. Therefore, this position paper focuses on epidemiology, pathophysiology, natural history and latest developments in treatment of HF in patients with dilated (DCM), hypertrophic (HCM) and restrictive (RCM) cardiomyopathies. In DCM, HF with reduced ejection fraction (HFrEF) has high incidence and prevalence and represents the most frequent cause of death, despite improvements in treatment. In addition, advanced HF in DCM is one of the leading indications for heart transplantation. In HCM, HF with preserved ejection (HFpEF) affects most patients with obstructive, and ∼10% of patients with non-obstructive HCM. A timely treatment is important, since development of advanced HF, although rare in HCM, portends a poor prognosis. In RCM, HFpEF is common, while HFrEF occurs later and more frequently in amyloidosis or iron overload/haemochromatosis. Irrespective of RCM aetiology, HF is a harbinger of a poor outcome. Recent advances in our understanding of the mechanisms underlying the development of HF in cardiomyopathies have significant implications for therapeutic decision-making. In addition, new aetiology-specific treatment options (e.g. enzyme replacement therapy, transthyretin stabilizers, immunoadsorption, immunotherapy, etc.) have shown a potential to improve outcomes. Still, causative therapies of many cardiomyopathies are lacking, highlighting the need for the development of effective strategies to prevent and treat HF in cardiomyopathies.

3.
Echocardiography ; 35(6): 804-808, 2018 06.
Artigo em Inglês | MEDLINE | ID: mdl-29490113

RESUMO

PURPOSE: Global longitudinal strain (GLS) is increasingly accepted as a predictor of mortality in various clinical settings. This study tested the hypothesis that GLS is associated with increased event rate in patients with extracardiac sarcoidosis, who have no overt symptoms of cardiovascular disease and preserved ejection fraction (EF). METHODS: We retrospectively studied 117 patients with extracardiac sarcoidosis and 45 age- and sex-matched controls, who underwent comprehensive echocardiographic study, while GLS was measured by an offline speckle tracking algorithm. Patients who had signs and symptoms of cardiovascular disease at the time of the examination were excluded from the study. Patients were followed for an average of 57.1 months. Primary endpoint was defined as a composite endpoint of heart failure-related hospitalizations, need for device therapy, arrhythmias, and all-cause mortality. RESULTS: The age of patients was 42 ± 6 years old (43 men). Events were recorded in 10 patients (8.5%). Tissue Doppler revealed E/Em 7.9 ± 3.5, while EF was 54.2 ± 3.5%. Global longitudinal strain was 14.4 ± 3%, and a cutoff value ≤-13.6% for GLS was considered more associated with adverse outcomes (AUC 0.84). After adjustment for multiple potential confounders (age, gender, hypertension, diabetes, E/Em, and EF), GLS remained strongly associated with adverse outcomes (HR 0.8, 0.63 to 0.98 95% C.I, P = .04). CONCLUSIONS: In conclusion, among patients with extracardiac sarcoidosis and no symptoms of cardiovascular disease, even when EF is preserved, GLS seems to be strongly associated with adverse future events.


Assuntos
Ecocardiografia Doppler/métodos , Ventrículos do Coração/diagnóstico por imagem , Sarcoidose/fisiopatologia , Volume Sistólico/fisiologia , Função Ventricular Esquerda/fisiologia , Adulto , Doenças Cardiovasculares , Feminino , Seguimentos , Humanos , Masculino , Prognóstico , Estudos Retrospectivos , Sarcoidose/diagnóstico
4.
Hellenic J Cardiol ; 2018 Jan 02.
Artigo em Inglês | MEDLINE | ID: mdl-29203160

RESUMO

BACKGROUND: Conventional echocardiographic parameters, such as rest ejection fraction, perform poorly in the prediction of exercise tolerance in heart failure. The aim of the present study was to evaluate the contribution of hemodynamic instability in the observed lower functional capacity and investigate the role of left ventricular strain for the prediction of stress test duration in obese hypertensive patients with reduced ejection fraction. METHODS: Sixty-one patients with reduced ejection fraction underwent treadmill exercise echocardiography. Systolic and diastolic echocardiographic parameters were recorded. Moreover, the presence of hemodynamic instability was assessed through N-terminal pro B-type natriuretic peptide (NT-proBNP) measurements at baseline and peak exercise. RESULTS: Rest and peak NT-proBNP levels, and their difference, were significantly correlated with mean global strain at peak, which was the only parameter associated with changes in NT-proBNP levels. Rest and peak mean global strain were found to be predictive for the duration of treadmill stress test. In particular, mean global strain, but not left ventricular ejection fraction, was independently correlated with exercise ability. CONCLUSIONS: Stress echocardiography may provide important information regarding exercise tolerance in obese hypertensive patients with reduced ejection fraction, mainly through the evaluation of left ventricular strain. The obtained evidence may also have prognostic value, particularly in the early stages of the syndrome.

6.
JACC Cardiovasc Imaging ; 10(12): 1437-1447, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28330653

RESUMO

OBJECTIVES: The goal of this study was to assess the independent and collective diagnostic value of various modalities in cardiac sarcoidosis, delineate the role of cardiac magnetic resonance (CMR), and identify patients at risk. BACKGROUND: Cardiac sarcoidosis is associated with increased morbidity and mortality. CMR is a key modality in the evaluation of patients with cardiac symptoms, but the complementary role of CMR to conventional tests for the diagnosis of cardiac sarcoidosis is not fully defined. METHODS: Patients (N = 321) with biopsy-proven sarcoidosis underwent conventional cardiac testing and CMR with late gadolinium enhancement (LGE) and were followed up for primary (composite of all-cause mortality, sustained ventricular tachycardia [VT] episodes, or hospitalization for heart failure) and secondary (nonsustained VT episodes) endpoints. RESULTS: Cardiac sarcoidosis was diagnosed in 29.9% of patients according to the Heart Rhythm Society consensus criteria. CMR was the most sensitive and specific test (area under the curve: 0.984); it detected 44 patients with cardiac symptoms and/or electrocardiogram (ECG) abnormalities but normal echocardiogram, as well as 15 asymptomatic patients with normal baseline testing. Echocardiography added to cardiac history and ECG did not change sensitivity of the initial screening strategy (68.8% vs. 72.9%). Despite a high positive predictive value (83.9%), echocardiography had a low sensitivity (27.1%). During follow-up, 7.2% of patients reached the primary endpoint and another 3.4% reached the secondary endpoint. LGE was and independent predictor of primary endpoints (hazard ratio: 5.68; 95% CI: 1.74 to 18.49; p = 0.004). LGE, age, and baseline nonsustained VT were independent predictors of all events. In patients with cardiac symptoms and/or an abnormal ECG, CMR increased diagnostic accuracy and independently predicted primary endpoints (hazard ratio: 12.71; 95% confidence interval: 1.48 to 109.35; p = 0.021). CONCLUSIONS: Of all cardiac tests, CMR was the most valuable in the diagnosis and prognosis of cardiac sarcoidosis in a general sarcoidosis population. Echocardiography had an overall limited diagnostic value as a screening test, and an abnormal study, despite a high positive predictive value, may still need confirmation with CMR.


Assuntos
Cardiomiopatias/diagnóstico por imagem , Imagem Cinética por Ressonância Magnética , Miocárdio/patologia , Sarcoidose/diagnóstico por imagem , Adulto , Área Sob a Curva , Biópsia , Cardiomiopatias/complicações , Cardiomiopatias/mortalidade , Cardiomiopatias/patologia , Causas de Morte , Meios de Contraste/administração & dosagem , Ecocardiografia , Eletrocardiografia Ambulatorial , Feminino , Insuficiência Cardíaca/etiologia , Hospitalização , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Prognóstico , Curva ROC , Reprodutibilidade dos Testes , Fatores de Risco , Sarcoidose/complicações , Sarcoidose/mortalidade , Sarcoidose/patologia , Taquicardia Ventricular/etiologia , Fatores de Tempo
7.
Int J Cardiol ; 236: 151-156, 2017 Jun 01.
Artigo em Inglês | MEDLINE | ID: mdl-28185705

RESUMO

BACKGROUND-AIM: Cardiac involvement at diagnosis of connective tissue disease (CTD) has been described by echocardiography. We hypothesized that cardio-vascular magnetic resonance (CMR) detects occult lesions at CTD diagnosis. PATIENTS-METHODS: CMR was performed early after diagnosis in 78 treatment-naïve CTDs (aged 43±11, 59F/19M) without cardiac involvement [5 Takayasu arteritis (TA), 4 Churg Strauss syndrome (CSS), 5 Wegener granulomatosis (WG), 16 systemic lupus erythematosus (SLE), 12 rheumatoid arthritis (RA), 8 mixed connective tissue diseases (MCTD), 12 ankylosing spondylitis (AS), 3 polymyalgia rheumatica (PMR), 8 systemic sclerosis (SSc) and 5 dermatomyositis (DM)]. Acute and chronic lesions were assessed by T2>2 with positive LGE and T2<2 with positive LGE, respectively. RESULTS: In 3/5 TA, 3/4 CSS, 4/5 WG, 10/16 SLE, 9/12 RA, 6/8 MCTD, 4/12 AS, 1/3 PMR, 2/8 SSc and 2/5 DM, the T2 ratio was higher compared to normal (2.78±0.25 vs 1.5±0.2, p<0.01). Myocarditis was identified in 1 TA, 1 SLE, 1 RA, 1 SSc and 2 DM patients; diffuse, subendocardial fibrosis in 1 CSS and 1 RA patient, while subendocardial myocardial infarction in 3 SLE, 1 MCTD, 1 PMR and 2 RA patients. CMR re-evaluation after 6 and 12months of rheumatic and cardiac treatment, available in 28/52 CTDs with increased T2 ratio, showed significant improvement in T2 ratio (p<0.001), non-significant change in LGE extent and normalisation of those with impaired LV function. CONCLUSIONS: Occult CMR lesions, including oedema, myocarditis, diffuse subendocardial fibrosis and myocardial infarction are not unusual in treatment naïve CTDs and may be reversed with appropriate treatment.


Assuntos
Doenças do Tecido Conjuntivo/diagnóstico por imagem , Doenças do Tecido Conjuntivo/fisiopatologia , Imagem Cinética por Ressonância Magnética/métodos , Adulto , Ecocardiografia/métodos , Eletrocardiografia/métodos , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento
8.
Adv Clin Exp Med ; 25(3): 471-8, 2016 May-Jun.
Artigo em Inglês | MEDLINE | ID: mdl-27629735

RESUMO

BACKGROUND: Although several studies in various countries have indicated that the presence of the E4 allele of the apolipoprotein-E (APOE) gene is a risk factor for ischemic cerebrovascular disease, the strength of this association still remains a matter of debate. OBJECTIVES: The aim of the study was to determine the frequency of the APOE E4 allele and various other gene polymorphisms in in a well-characterized sample of Greek patients and to evaluate the potential associations with the risk of ischemic stroke (IS) and coronary heart disease (CHD). MATERIAL AND METHODS: A total of nine gene variants/polymorphisms - F5 (Leiden - R5 06Q, rs6025), F2 (20210G > A, rs1799963), F13A1 (V34L, rs5985), MTHFR (677C > T - A222V, rs1801133), MTHFR (1298A > C - E429A, rs1801131), FGB (-455G > A -c.-463G > A; rs1800790), SERPINE1 (PAI14G/5G - rs1799889), ACE (ACE I/D, rs1799752), ITGB3 (GPIIIa L33P, rs5918) and the APOE E2/E3/E4 alleles (rs7412, rs429358) - were genotyped in 200 newly diagnosed ischemic stroke (IS) patients, 165 patients with ischemic coronary heart disease (CHD) and 159 controls with no cerebroor cardiovascular disease (non-CVD). A statistical analysis was performed using univariate and multivariate logistic regression models. RESULTS: No significant association was found regarding most gene polymorphisms and the presence of IS or CHD in the patient cohort. However, the APOE E4 allele frequency was significantly higher (p = 0.02) among patients with ischemic stroke (IS) or IS + CHD (12.7%) when compared to the controls (5.1%). More accurately, E4 carriers had 2.66 and 2.71 times greater likelihood of IS or IS + CHD than non-carriers, respectively (OR = 2.66, 95% CI 1.39-5.07, OR = 2.71, 95% CI 0.98-7.48). CONCLUSIONS: In contrast to some previous studies, these results support the role of the APOE E4 allele as an independent risk factor for ischemic stroke and ischemic coronary heart disease among Greek patients.


Assuntos
Apolipoproteínas E/genética , Predisposição Genética para Doença/genética , Heterozigoto , Acidente Vascular Cerebral/genética , Idoso , Alelos , Análise de Variância , Doença das Coronárias/etiologia , Doença das Coronárias/genética , Feminino , Frequência do Gene , Genótipo , Grécia , Humanos , Isquemia/complicações , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Medição de Risco/métodos , Medição de Risco/estatística & dados numéricos , Fatores de Risco , Acidente Vascular Cerebral/etiologia
9.
Hypertens Res ; 39(9): 640-7, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-27194570

RESUMO

To assess the differences among seven different methods for the calculation of mean arterial pressure (MAP) and to identify the formula that provides MAP values that are more closely associated with target organ deterioration as expressed by the carotid cross-sectional area (CSA), carotid-to-femoral pulse-wave velocity (cf-PWV) and left ventricular mass (LVM). The study population consisted of 1878 subjects who underwent noninvasive cardiovascular risk assessment. Blood pressure (BP) was assessed in all subjects, and MAP was calculated by direct oscillometry and six different formulas. Carotid artery ultrasound imaging was performed in 1628 subjects. The CSA of the right and left common carotid artery (CCA) were calculated and used as surrogates of arterial wall mass and hypertrophy. Aortic stiffness was evaluated in 1763 subjects by measuring the cf-PWV. Finally, 218 subjects underwent echocardiographic examination for the assessment of LVM. Among the examined methods of MAP calculation, the formula MAP1=[diastolic BP]+0.412 × [pulse pressure] yielded the strongest correlations with the LVM, cf-PWV and CSA of the right and left CCA, even after adjusting for age and gender. The MAP calculation using the 0.412 was superior compared with the traditional formula that uses the 0.33 for the discrimination of subjects with left ventricular and carotid wall hypertrophy, as well as subjects with increased aortic stiffness. MAP estimated with the 0.412 is better correlated with target organ deterioration compared with other formulas. Future studies are needed to explore the accuracy of these formulas for MAP estimation compared with direct intra-arterial BP measurement.


Assuntos
Pressão Arterial/fisiologia , Determinação da Pressão Arterial/métodos , Artérias Carótidas/fisiologia , Rigidez Vascular/fisiologia , Adulto , Idoso , Velocidade do Fluxo Sanguíneo/fisiologia , Artérias Carótidas/diagnóstico por imagem , Ecocardiografia , Feminino , Hemodinâmica/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Fluxo Pulsátil/fisiologia , Análise de Onda de Pulso , Reprodutibilidade dos Testes , Medição de Risco
11.
Curr Pharm Des ; 22(13): 1853-6, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-26642779

RESUMO

In the 18(th) century clinical cardiology was based on pulse examination and auscultation by placing the ear directly on the patient's chest, while diagnosis of heart diseases was done in postmortem examination. In 1749, Jean-Baptiste de Sénac, physician of King Louis XV, published his work on the heart Traité de la structure du coeur, de son action et de ses maladies. It was the result of years of anatomical and physiological study, in an attempt to illuminate heart and its functions. Sénac recognized among several heart disorders, aortic regurgitation, mitral calcification, and mitral regurgitation. His work remained a landmark in valvular pathology and cardiology until the early 19(th) century.


Assuntos
Cardiologia/história , Cardiopatias/história , Cardiopatias/diagnóstico , História do Século XVIII , História do Século XIX , Humanos
14.
Patient Prefer Adherence ; 9: 1179-88, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26316723

RESUMO

INTRODUCTION: Pulmonary function tests (PFTs) do not always predict functional limitations during exercise in sarcoidosis. Cardiopulmonary exercise testing (CPET) may facilitate the recognition of exercise intolerance in these patients. AIM: As relevant data in sarcoid patients are limited, the aim of the study reported here was to assess exercise capacity impairment during a maximal CPET and to evaluate potential correlations with PFT measurements and radiological stages of the disease. METHOD: A total of 83 sarcoid patients consecutively referred for evaluation of exertional dyspnea over a 3-year period were studied retrospectively with PFTs, including spirometry, diffusing capacity of the lung for carbon monoxide (DLCO) and lung volumes, and CPET using standard protocol. Patients were grouped according to their radiological stages: Stage I (n=43), Stages II-III (n=31), and Stage IV (n=9). RESULTS: Forced expiratory volume in 1 second, forced vital capacity, and total lung capacity were mildly impaired only in Stage IV (means ± standard deviation: 72.44±28.00, 71.33±26.70, and 59.78±21.72, respectively), while DLCO was mildly and moderately reduced in Stages II-III and IV (72.68±14.13 and 51.22±18.50, respectively) and differed significantly between all stages (I vs II-III: P=0.003, I vs IV: P=0.003, and II-III vs IV: P=0.009). Exercise capacity (as expressed by peak oxygen consumption <84% predicted) was decreased in 53% of patients (Stage I: 48%, Stages II-III: 52%, Stage IV: 78%); however, significant differences were noticed only between Stages I and IV (P=0.0025). Of note, significant correlations were found between peak oxygen consumption and DLCO (P=0.0083), minute ventilation (P<0.0001), oxygen pulse (P<0.0001), lactate threshold (P<0.0001), and peak ventilatory threshold (P<0.0001). CONCLUSION: CPET could be considered a useful tool in exercise intolerance evaluation in sarcoid patients with mild PFT abnormalities. Exercise limitation in sarcoidosis may be attributed to both ventilatory and cardiocirculatory impairment.

15.
Microvasc Res ; 100: 54-8, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25937082

RESUMO

Ocular involvement occurs in sarcoidosis (Sar) patients mainly in the form of uveitis. This study was designed to determine if uveitis in Sar patients is associated with vascular impairment. We enrolled 82 Sar patients and 77, age and sex matched, control subjects (Cl). Sar patients were divided into those with ocular sarcoidosis (OS) and those without ocular sarcoidosis (WOS). Endothelial function was evaluated by flow-mediated dilation (FMD). Pulse wave velocity (PWV) was measured as an index of aortic stiffness and augmentation index (AIx) as a measure of arterial wave reflections. Although there was no significant difference in sex, age and mean arterial pressure, patients with OS compared to WOS patients and Cl subjects had impaired FMD (p<0.001), increased AIx (p=0.02) and increased PWV (p=0.001). Interestingly, impaired FMD in Sar patients was independently, from possible covariates (age, sex, smoking habits, arterial hypertension, dyslipidemia), associated with increased odds of ocular involvement (odds ratio=1.69, p=0.001). More precisely ROC curve analysis revealed that FMD had a significant diagnostic ability for the detection of OS (AUC=0.77, p<0.001) with a sensitivity of 79% and a specificity of 68% for an FMD value below 6.00%. To conclude in the present study we have shown that ocular involvement in Sar patients is associated with impaired endothelial function and increased arterial stiffness. These results strengthen the vascular theory which considers uveitis a consequence of vascular dysfunction in Sar patients and reveals a possible clinical importance of the use of endothelial function tests.


Assuntos
Artéria Braquial/fisiopatologia , Endotélio Vascular/fisiopatologia , Sarcoidose/complicações , Uveíte/etiologia , Doenças Vasculares/etiologia , Rigidez Vascular , Vasodilatação , Artéria Braquial/diagnóstico por imagem , Estudos de Casos e Controles , Endotélio Vascular/diagnóstico por imagem , Humanos , Valor Preditivo dos Testes , Prognóstico , Análise de Onda de Pulso , Sarcoidose/diagnóstico , Ultrassonografia , Uveíte/diagnóstico , Uveíte/fisiopatologia , Doenças Vasculares/diagnóstico , Doenças Vasculares/fisiopatologia
16.
Inflamm Allergy Drug Targets ; 14(2): 111-6, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26728774

RESUMO

BACKGROUND: To clarify the imaging patterns of cardiovascular lesions in patients with mixed connective tissue disease (MCTD) and cardiovascular symptoms with or/ without abnormal routine non-invasive evaluation. PATIENTS-METHODS: Twenty-two MCTD patients (19F/3M), aged 38±4 yrs with cardiovascular symptoms were evaluated using a 1.5 T scanner. Of them, 8/22 had systemic lupus erythematosus (SLE), 5/22 rheumatoid arthritis (RA), 5/22 scleroderma (SSc) and 4/22 myositis (MY) overlap syndromes; 10/22 patients with MCTD presented with Raynaud phenomenon (RP) and all were positive for Anti-RNP antibodies. The cardiovascular magnetic resonance study (CMR) included evaluation of function, inflammation and fibrosis. Myocardial stress perfusion-fibrosis evaluation was performed only in MCTD patients with RP. RESULTS: A positive CMR study was identified in 4/8 with SLE, 1/5 with RA, 4/5 with SSc and in 1/4 with MY like MCTD. The CMR lesions were subendocardial or transmural LGE following the distribution of coronary arteries, intramyocardial LGE and diffuse subendocardial LGE in SLE-RA, MY and SSc like MCTD, respectively. Although no evidence of fibrosis was identified in patients with RP, adenosine stress myocardial perfusion revealed diffuse subendocardial perfusion defects. No correlation between disease duration and/or inflammatory indices and cardiac lesions was identified. CONCLUSION: CMR can reveal myocardial lesions in MCTD patients with cardiac symptoms including myocardial infarction, inflammation, diffuse subendocardial fibrosis and diffuse perfusion defects, necessitating further cardiac investigation and/or treatment.


Assuntos
Cardiomiopatias/diagnóstico por imagem , Circulação Coronária , Coração/diagnóstico por imagem , Imagem Cinética por Ressonância Magnética , Doença Mista do Tecido Conjuntivo/diagnóstico por imagem , Imagem de Perfusão do Miocárdio/métodos , Miocárdio/patologia , Adulto , Cardiomiopatias/patologia , Cardiomiopatias/fisiopatologia , Ecocardiografia , Eletrocardiografia , Feminino , Fibrose , Humanos , Masculino , Pessoa de Meia-Idade , Doença Mista do Tecido Conjuntivo/patologia , Doença Mista do Tecido Conjuntivo/fisiopatologia , Valor Preditivo dos Testes , Prognóstico
17.
Inflamm Allergy Drug Targets ; 13(5): 335-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-25412817

RESUMO

OBJECTIVES: To evaluate the potential of cardiovascular magnetic resonance (CMR) to answer queries, addressed in systemic autoimmune diseases (SAD). METHODS: Thirty-six patients aged 52±6 years, (range 27-71) with SAD and suspected cardiac disease underwent CMR by a 1.5 T, after routine evaluation, including clinical, ECG and echocardiographic examination. Steady-state, free precession cines, STIR T2-W and late gadolinium enhanced (LGE) images were evaluated. RESULTS: Abnormal findings were detected by: clinical evaluation in 14/36, ECG in 17/36, echocardiography in 11/36 and CMR in 30/36 SAD. Clinical, ECG and echocardiographic examination could not assess cardiac disease acuity and lesions'pathophysiology. In contrary, CMR identified cardiac lesions' etiology, acuity, need for catheterization and heart disease persistence, even if SAD was quiescent. CONCLUSION: Clinical, ECG and echocardiographic abnormalities may suggest, but not always interpret cardiac involvement in SAD. CMR can help to identify both etiology and acuity of cardiac lesions and guide further diagnostic and/or therapeutic approach in these patients.


Assuntos
Doenças Autoimunes/diagnóstico , Doenças Cardiovasculares/diagnóstico , Coração/diagnóstico por imagem , Imagem por Ressonância Magnética , Miocárdio/patologia , Adulto , Idoso , Doenças Autoimunes/complicações , Doenças Cardiovasculares/complicações , Ecocardiografia , Eletrocardiografia , Feminino , Coração/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Cintilografia
18.
In Vivo ; 28(6): 1125-9, 2014 Nov-Dec.
Artigo em Inglês | MEDLINE | ID: mdl-25398810

RESUMO

Identification of genetic predisposition to cardiac sarcoidosis could play a critical role in the detection of sub-clinical forms of the disease. The aim of this study was to investigate the possible correlations between the emergence of cardiac sarcoidosis and the -1.031T/C, -857C/T, -308G/A, and -238G/A Tumor Necrosis Factor-α (TNFA) polymorphisms in a well-defined Greek cohort. One-hundred and seventy-three patients of Greek origin with sarcoidosis were recruited in the present study. Cardiac sarcoidosis was determined according to established criteria. Blood samples were collected and the TNFA polymorphisms were genotyped. No significant difference was noted between the patients with cardiac involvement and those without, concerning the -1.031T/C and -238G/A TNFA polymorphisms. Regarding the -857C/T polymorphism, the TT genotype and the T allele were found to be over-represented in patients with cardiac involvement (p=0.02 and 0.012, respectively). AA genotype of the -308G/A as well as the A allele were also found significantly more frequently in patients with cardiac sarcoidosis (p=0.014 and 0.012 respectively). From the investigated TNFA promoter polymorphisms, we were able to deduce nine main haplotypes. Haplotypes 3 and 5, including A nucleotide at position -308, and T nucleotide at position -857 respectively, were significantly over-represented in the group with cardiac involvement. We detected an increased presence of genetic polymorphisms in the TNFA gene of patients with cardiac involvement. However, the role and the clinical application of these findings need further exploration.


Assuntos
Cardiomiopatias/genética , Predisposição Genética para Doença , Polimorfismo Genético , Sarcoidose/genética , Fator de Necrose Tumoral alfa/genética , Adulto , Idoso , Alelos , Cardiomiopatias/diagnóstico , Cardiomiopatias/patologia , Feminino , Frequência do Gene , Estudos de Associação Genética , Genótipo , Haplótipos , Humanos , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Polimorfismo de Nucleotídeo Único , Regiões Promotoras Genéticas , Sarcoidose/diagnóstico , Sarcoidose/patologia
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