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1.
Eur Heart J ; 40(26): 2155-2163, 2019 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-30957868

RESUMO

Randomized clinical trials initially used heart failure (HF) patients with low left ventricular ejection fraction (LVEF) to select study populations with high risk to enhance statistical power. However, this use of LVEF in clinical trials has led to oversimplification of the scientific view of a complex syndrome. Descriptive terms such as 'HFrEF' (HF with reduced LVEF), 'HFpEF' (HF with preserved LVEF), and more recently 'HFmrEF' (HF with mid-range LVEF), assigned on arbitrary LVEF cut-off points, have gradually arisen as separate diseases, implying distinct pathophysiologies. In this article, based on pathophysiological reasoning, we challenge the paradigm of classifying HF according to LVEF. Instead, we propose that HF is a heterogeneous syndrome in which disease progression is associated with a dynamic evolution of functional and structural changes leading to unique disease trajectories creating a spectrum of phenotypes with overlapping and distinct characteristics. Moreover, we argue that by recognizing the spectral nature of the disease a novel stratification will arise from new technologies and scientific insights that will shape the design of future trials based on deeper understanding beyond the LVEF construct alone.

2.
BMC Med Genet ; 20(1): 61, 2019 04 05.
Artigo em Inglês | MEDLINE | ID: mdl-30953456

RESUMO

BACKGROUND: Restrictive cardiomyopathy is a rare cardiac disease, for which several genes including TNNT2, MYPN, FLNC and TNNI3 have been associated with its familial form. CASE PRESENTATION: Here we describe a female proband with a severely manifested restrictive phenotype leading to heart transplantation at the age of 41, who was found homozygous for the novel TNNI3 mutation: NM_000363.4:c.586G > C, p.(Asp196His). Her parents were third-degree cousins originating from a small village and although they were found heterozygous for the same variant they displayed no symptoms of the disease. Her older sister who was also found heterozygous was asymptomatic. Her twin sister and her brother who were homozygous for the same variant displayed a restrictive and a hypertrophic phenotype, respectively. Their children are all carriers of the mutation and remain asymptomatic until the age of 21. CONCLUSION: These observations point to a recessive mode of inheritance reported for the first time for this combination of gene/disease.


Assuntos
Cardiomiopatias/genética , Genes Recessivos , Mutação , Troponina I/genética , Adulto , Feminino , Genótipo , Humanos , Masculino , Linhagem
3.
BMC Cancer ; 19(1): 191, 2019 Mar 01.
Artigo em Inglês | MEDLINE | ID: mdl-30823905

RESUMO

BACKGROUND: Primary cardiac lymphomas (PCL) represent extremely rare cardiac tumors which are accompanied by poor prognosis, unless they are timely diagnosed and treated. CASE PRESENTATION: Herein we present a 28-year-old, immunocompetent man who presented to our hospital due to progressively worsening symptoms and signs of superior vena cava syndrome. Multi-modality imaging demonstrated a large intracardiac tumor, which was proven, by biopsy, to be a PCL. The patient received targeted chemotherapy which led to total remission of his disease, with no relapse over a 15-month follow-up period. CONCLUSIONS: Although PCLs are rare, they should always be kept in mind in the differential diagnosis of cardiac tumors. Timely diagnosis of PCLs and appropriate chemotherapy, alone or in combination with radiotherapy, seems to provide the best results.


Assuntos
Neoplasias Cardíacas/diagnóstico , Linfoma Difuso de Grandes Células B/diagnóstico , Adulto , Anticorpos Monoclonais Murinos/uso terapêutico , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapêutico , Arritmias Cardíacas , Ciclofosfamida/uso terapêutico , Doxorrubicina/uso terapêutico , Ecocardiografia , Neoplasias Cardíacas/complicações , Neoplasias Cardíacas/tratamento farmacológico , Neoplasias Cardíacas/patologia , Humanos , Linfoma Difuso de Grandes Células B/complicações , Linfoma Difuso de Grandes Células B/tratamento farmacológico , Linfoma Difuso de Grandes Células B/patologia , Imagem Cinética por Ressonância Magnética , Masculino , Exame Físico , Tomografia Computadorizada com Tomografia por Emissão de Pósitrons , Prednisona/uso terapêutico , Indução de Remissão , Síndrome da Veia Cava Superior/etiologia , Vincristina/uso terapêutico
4.
Cardiology ; 141(3): 150-155, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-30557877

RESUMO

OBJECTIVE: We present the genotypic and phenotypic characterization of a family displaying dilated cardiomyopathy (DCM). METHODS: The proband and his relatives underwent full cardiological assessment. Genetic analysis of the proband was performed with the use of next-generation sequencing technology. RESULTS: In this study, we present 6 members of a family carrying the RBM20 mutation NM_001134363.2:c.1900C>T. The proband was initially diagnosed with DCM at the age of 18 years and received an implantable cardioverter defibrillator (ICD) due to ventricular arrhythmias. His brother, carrier of the mutation, has been diagnosed with borderline left ventricular function. The mutation was shown to be of paternal origin, but their father remains asymptomatic with a mild DCM, while his electrocardiogram at the initial evaluation showed a right bundle branch block pattern. The mutation was also detected in the index case's aunt who was resuscitated from sudden cardiac death. Her echocardiography revealed early stages of DCM and a bicuspid aortic valve. Her children are both carriers of the mutation. Her daughter is unaffected, but her son has an ICD implanted due to sustained ventricular tachycardia and presents early signs of DCM. CONCLUSION: Our findings are the first report of co-segregation of the mutation in 6 family members, supporting its pathogenic role.


Assuntos
Cardiomiopatia Dilatada/genética , Mutação , Proteínas de Ligação a RNA/genética , Adolescente , Adulto , Cardiomiopatia Dilatada/complicações , Criança , Morte Súbita Cardíaca/etiologia , Desfibriladores Implantáveis , Feminino , Predisposição Genética para Doença , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Taquicardia Ventricular/terapia , Adulto Jovem
5.
Hellenic J Cardiol ; 2018 Nov 15.
Artigo em Inglês | MEDLINE | ID: mdl-30448617

RESUMO

Clinical investigations in chronic heart failure (HF) have been increasingly including endpoints related to functional and exercise capacity. Noninvasive ventilation support (NIVS) constitutes a therapeutic option that could improve several markers of cardiovascular performance and functional capacity along with improvements in HF symptoms such as dyspnea. NIVS with bilevel positive airway pressure (BiPAP) is a therapeutic option that can be better tolerated by patients compared to continuous positive airway pressure (cPAP) and potentially improve heart failure patients' adherence. Future investigations should improve our understanding as to how to select the HF patients most amenable to respond favorably, elucidate the frequency and duration of NIVS session required to maintain the observed short-term beneficial effects for a long period of time and also shed additional light on the mechanisms associated with these benefits. In summary, NIVS appears to be a promising non-pharmacological therapy to improve exercise capacity and quality of life in chronic HF.

6.
Eur J Heart Fail ; 2018 Nov 26.
Artigo em Inglês | MEDLINE | ID: mdl-30474896

RESUMO

Exercise training (ET) and secondary prevention measures in cardiovascular disease aim to stimulate early physical activity and to facilitate recovery and improve health behaviours. ET has also been proposed for heart failure patients with a ventricular assist device (VAD), to help recovery in the patient's functional capacity. However, the existing evidence in support of ET in these patients remains limited. After a review of current knowledge on the causes of the persistence of limitation in exercise capacity in VAD recipients, and concerning the benefit of ET in VAD patients, the Heart Failure Association of the European Society of Cardiology has developed the present document to provide practical advice on implementing ET. This includes appropriate screening to avoid complications and then starting with early mobilisation, ET prescription is individualised to meet the patient's needs. Finally, gaps in our knowledge are discussed.

8.
Eur J Med Genet ; 2018 May 23.
Artigo em Inglês | MEDLINE | ID: mdl-29753918

RESUMO

Danon disease is a rare X-linked cardiac and skeletal muscle disorder with multisystem clinical manifestations. Genetic defects at the lysosome-associated membrane 2 protein (LAMP2) are the cause of the disorder. Due to the rarity of the disease, there is limited progress in understanding the correlation between genotype and phenotype, and explaining the large variability of the clinical features of the disease. In this study, we report two patients, twin sisters, referred to our hospital for end stage heart failure due to dilated cardiomyopathy, requiring heart transplant evaluation. Genetic analysis, using targeted next generation sequencing, showed that the proband carried a LAMP2 missense variant, c.928G > A. The mutation was also detected in her twin sister by sanger sequencing. This variant has already been reported by other investigators and was correlated with the clinical triad of Danon disease i.e. hypertrophic cardiomyopathy, mental retardation and peripheral myopathy. The new phenotype of dilated cardiomyopathy associated with this mutation, confirms the phenotypic heterogeneity of the particular mutation, as well as of Danon disease.

9.
Circ Cardiovasc Imaging ; 11(4): e007117, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29653930

RESUMO

BACKGROUND: Impaired qualitative and quantitative left ventricular (LV) rotational mechanics predict cardiac remodeling progression and prognosis after myocardial infarction. We investigated whether cardiac rotational mechanics can predict cardiac recovery in chronic advanced cardiomyopathy patients. METHODS AND RESULTS: Sixty-three patients with advanced and chronic dilated cardiomyopathy undergoing implantation of LV assist device (LVAD) were prospectively investigated using speckle tracking echocardiography. Acute heart failure patients were prospectively excluded. We evaluated LV rotational mechanics (apical and basal LV twist, LV torsion) and deformational mechanics (circumferential and longitudinal strain) before LVAD implantation. Cardiac recovery post-LVAD implantation was defined as (1) final resulting LV ejection fraction ≥40%, (2) relative LV ejection fraction increase ≥50%, (iii) relative LV end-systolic volume decrease ≥50% (all 3 required). Twelve patients fulfilled the criteria for cardiac recovery (Rec Group). The Rec Group had significantly less impaired pre-LVAD peak LV torsion compared with the Non-Rec Group. Notably, both groups had similarly reduced pre-LVAD LV ejection fraction. By receiver operating characteristic curve analysis, pre-LVAD peak LV torsion of 0.35 degrees/cm had a 92% sensitivity and a 73% specificity in predicting cardiac recovery. Peak LV torsion before LVAD implantation was found to be an independent predictor of cardiac recovery after LVAD implantation (odds ratio, 0.65 per 0.1 degrees/cm [0.49-0.87]; P=0.014). CONCLUSIONS: LV rotational mechanics seem to be useful in selecting patients prone to cardiac recovery after mechanical unloading induced by LVADs. Future studies should investigate the utility of these markers in predicting durable cardiac recovery after the explantation of the cardiac assist device.

10.
Heart Fail Rev ; 23(2): 173-180, 2018 03.
Artigo em Inglês | MEDLINE | ID: mdl-29359261

RESUMO

In iron overload diseases (thalassemia, sickle cell, and myelodysplastic syndrome), iron is deposited in all internal organs, leading to functional abnormalities. Hematopoietic stem cell transplantation (HSCT) is the only treatment offering a potential cure in these diseases. Our aim was to describe the experience in the field and the role of magnetic resonance imaging in the evaluation of iron overload before and after HSCT. Magnetic resonance imaging (MRI), using T2*, is the most commonly used tool to diagnose myocardial-liver iron overload and guide tailored treatment. Currently, HSCT offers complete cure in thalassemia major, after overcoming the immunologic barrier, and should be considered for all patients who have a suitable donor. The overall thalassemia-free survival of low-risk, HLA-matched sibling stem cell transplantation patients is 85-90%, with a 95% overall survival. The problems of rejection and engraftment are improving with the use of adequate immunosuppression. However, a detailed iron assessment of both heart and liver is necessary for pre- and post-transplant evaluation. In iron overload diseases, heart and liver iron evaluation is indispensable not only for the patients' survival, but also for evaluation before and after HSCT.

13.
Expert Rev Cardiovasc Ther ; 15(4): 307-313, 2017 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-28317398

RESUMO

INTRODUCTION: Cardiac allograft rejection (CAR) may occur after transplantation and remains silent, until hemodynamic deterioration takes place. Endomyocardial biopsy (EMB) is applied to early detect CAR. Although, flexible bioptoms have decreased the incidence of lethal complications, EMB remains an invasive procedure carrying risk of tamponade and permanent heart block. Therefore, a new non-invasive approach is needed. Areas covered: AlloMap molecular expression testing and graft-derived cell-free DNA (GcfDNA) test can be used as blood indices of acute and chronic CAR, respectively. Among diagnostic techniques, only echocardiography and cardiovascular magnetic resonance (CMR) have shown a strong correlation with EMB. Echocardiography is bedside, cost and time saving. However, the currently used indices are insensitive markers of CAR. Global longitudinal strain (GLS) can diagnose the subclinical CAR and be used together with EMB to monitor acute CAR. CMR can improve our diagnostic accuracy using T2STIR, T1, T2 mapping, early/late gadolinium enhancement and functional assessment. Expert commentary: A new non-invasive approach in asymptomatic transplanted patients should be based on a serial assessment of AlloMap, GcfDNA testing, echocardiographic and CMR indices that will guide the indication for EMB. In symptomatic patients immediate EMB is the approach of choice, since they have high likelihood for CAR.


Assuntos
Ecocardiografia/métodos , Rejeição de Enxerto/diagnóstico , Transplante de Coração/métodos , Aloenxertos , Biópsia/métodos , Cateterismo Cardíaco , Rejeição de Enxerto/diagnóstico por imagem , Humanos , Imagem por Ressonância Magnética/métodos , Miocárdio/patologia
15.
Int J Cardiol ; 221: 622-6, 2016 Oct 15.
Artigo em Inglês | MEDLINE | ID: mdl-27420588

RESUMO

BACKGROUND: We hypothesized that the ability to sustain maximal inspiratory pressure (SPImax) over time as a measure of work capacity may be more severely affected than inspiratory muscle strength (PImax) in patients with heart failure (HF). METHODS: We retrospectively investigated eighty patients with HF, NYHA II/III/ ambulatoryIV and a (mean±SD) LVEF 27±8%, and compared them to 25 healthy subjects (HS). During a maximal inspiratory manoeuvre from residual volume (RV) to total lung capacity, PImax was measured as the maximum mouth pressure at RV, inspiratory contraction time (ICT) as the time from RV to end of inspiration and SPImax as the area under a pressure-time curve using an electronic pressure manometer with designed-purpose software (Trainair(®), Project Electronics Ltd., London, UK). Exercise capacity was assessed with cardiopulmonary exercise testing and the 6-minute walk test (6MWT). RESULTS: Patients achieved a (mean±SD) peak VO2=15.7±3.4ml/kg/min and 6MWT=338±88m. PImax, ICT and SPImax were reduced in HF pts at 75%***, 61%*** and 52%*** of HS, and correlated with NYHA (r=-0.485***), (r=-0.507**), (r=-0.500***), peakVO2 (r=0.501***), (r=0.655***), (r=0.508***) and 6MWT (r=0.477***), (r=0.345**), (r=0.530***), respectively (*p<0.05, **p<0.01, ***p<0.001). CONCLUSION: PImax, ICT and SPImax were impaired in HF patients compared to HS and may be important determinants of exercise capacity. SPImax was severely depressed even in patients with relatively preserved PImax and should be considered as an additional target index for inspiratory muscle training. Equations are provided to predict SPImax in relation to age and exercise capacity in HF.


Assuntos
Exercícios Respiratórios/métodos , Exercício/fisiologia , Insuficiência Cardíaca , Capacidade Inspiratória/fisiologia , Força Muscular/fisiologia , Músculos Respiratórios/fisiopatologia , Fatores Etários , Idoso , Teste de Esforço/métodos , Tolerância ao Exercício/fisiologia , Feminino , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/fisiopatologia , Insuficiência Cardíaca/reabilitação , Humanos , Masculino , Pressões Respiratórias Máximas/métodos , Pessoa de Meia-Idade , Teste de Caminhada/métodos
16.
Int J Cardiol ; 220: 408-13, 2016 Oct 01.
Artigo em Inglês | MEDLINE | ID: mdl-27390963

RESUMO

Accessibility to the available traditional forms of cardiac rehabilitation programs in heart failure patients is not adequate and adherence to the programs remains unsatisfactory. The home-based telerehabilitation model has been proposed as a promising new option to improve this situation. This paper's aims are to discuss the tools available for telemonitoring, and describing their characteristics, applicability, and effectiveness in providing optimal long term management for heart failure patients who are unable to attend traditional cardiac rehabilitation programs. The critical issues of psychological support and adherence to the telerehabilitation programs are outlined. The advantages and limitations of this long term management modality are presented and compared with alternatives. Finally, the importance of further research, multicenter studies of telerehabilitation for heart failure patients and the technological development needs are outlined, in particular interactive remotely controlled intelligent telemedicine systems with increased inter-device compatibility.


Assuntos
Reabilitação Cardíaca/métodos , Insuficiência Cardíaca/reabilitação , Telerreabilitação/métodos , Medicina Baseada em Evidências/métodos , Terapia por Exercício/métodos , Insuficiência Cardíaca/diagnóstico , Humanos , Telemedicina/métodos
19.
J Cardiovasc Med (Hagerstown) ; 17(2): 126-9, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25333376

RESUMO

BACKGROUND: Cardiac amyloidosis, particularly primary or AL amyloidosis, is the most common infiltrative cardiomyopathy and is associated with a poor prognosis. The outcome of cardiac transplantation is generally poor, and almost half of patients die while waiting for the procedure to be done. PATIENT: We report here the remarkable case of a 63-year-old man with heart failure caused by AL amyloidosis. After a long course, which included rapid deterioration of preexisting heart failure, cardiac arrest, cardiogenic shock, biventricular assist device support, heart transplantation, renal failure, kidney transplantation and finally a life-threatening H1N1 virus pneumonia, the patient managed not only to survive but also to return fully to his previous demanding duties and lifestyle. DISCUSSION: Early use of left ventricular or biventricular mechanical circulatory support may be beneficial as a bridge to transplantation in patients with cardiac AL amyloidosis.


Assuntos
Amiloidose/complicações , Insuficiência Cardíaca/etiologia , Transplante de Coração , Coração Auxiliar , Transplante de Rim , Amiloidose/cirurgia , Insuficiência Cardíaca/cirurgia , Humanos , Masculino , Pessoa de Meia-Idade
20.
Int J Cardiol ; 201: 215-9, 2015 Dec 15.
Artigo em Inglês | MEDLINE | ID: mdl-26301640

RESUMO

BACKGROUND: To contribute to the protocol development of exercise training in LVAD supported patients by reviewing the exercise programs for those patients in the ESC affiliated countries. METHODS: A subset of data from 77 (26 countries) LVAD implanting centers that participated in the Extra-HF survey (170 centers) was analyzed. RESULTS: Of the 77 LVAD implanting centers, 45 (58%) reported to have a functioning exercise training program (ETP) for LVAD patients. In 21 (47%) of the 45 ETP programs in LVAD implanting centers, patients begin their ETP during their in-hospital post-operative recovery period. Most centers (71%) have an early post-discharge program for their patients, and 24% of the centers offer a long-term maintenance program. The professionals involved in the ETPs are mainly physiotherapists (73%), psychologists, cardiac rehab nurses (22%), or cardiologists specialized in rehabilitation (22%). Not all programs include the treating cardiologist or surgeons. Most of the ETPs (84%) include aerobic endurance training, mostly cycling (73%), or walking (62%) at low intensity intervals. Some programs apply resistance training (47%), respiratory muscle training (55%), or balance training (44%). Reasons for the absence of ETPs are referral of patients to another center (14 centers) and lack of resources (11 centers). CONCLUSION: There is a great variance in ETPs in LVAD implanting centers. Not all the implanting centers have an ETP, and those that do have adopted a local protocol. Clear guidance on ETP supplied by LVAD implanting centers to LVAD supported patients and more evidence for optimal modalities are needed.


Assuntos
Cardiologia/métodos , Terapia por Exercício/métodos , Insuficiência Cardíaca/epidemiologia , Insuficiência Cardíaca/terapia , Sociedades Médicas , Inquéritos e Questionários , Cardiologia/normas , Europa (Continente)/epidemiologia , Terapia por Exercício/tendências , Seguimentos , Insuficiência Cardíaca/diagnóstico , Humanos , Sociedades Médicas/normas
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