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1.
Catheter Cardiovasc Interv ; 88(4): 546-553, 2016 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-27258651

RESUMO

OBJECTIVES: To identify factors associated with outcomes following rotational atherectomy (RA). BACKGROUND: RA is an effective way to mechanically modify heavily calcified lesions before stenting; however its outcomes are not well defined. METHODS AND RESULTS: Retrospective evaluation of all patients who underwent RA in three large UK centers (Leeds General Infirmary (LGI), Royal Infirmary of Edinburgh (RIE) and University Hospital of North Staffordshire (UHNS)) from March 2005 to January 2013. Five hundred and eighteen patients had RA with median follow-up period of 22 months. About 68.3% were male, 28.7% had DM and 34.6% were treated because of ACS. Stents were deployed in 97.3% of the patients while 30.7% of the procedures were performed transradially. Maximum burr was ≤1.75 mm in 85.5% and the mean SYNTAX score was 19.5 ± 11.6. Peri-procedural complications occurred in 6.4% and vascular access complications in 1.9%. Outcomes in the follow-up period were: MACE 17.8%, cardiac death 7.1%, MI 11.7%, TVR 7.5%, all-cause death 13.7%, definite stent thrombosis (ST) 1.4% and stroke 2.9%. Patients with intermediate and high SYNTAX scores were more likely to suffer MACE, cardiac death, MI, all-cause death and ST. Patients with a SYNTAX score >32 were also more likely to have a peri-procedural complication. Multiple logistic regression analysis showed that the presence of PVD (P = 0.026, OR = 2.0), DM (P = 0.008, OR = 2.1), ACS presentation (P = 0.011, OR = 2.1) and SYNTAX score ≥23 (P = 0.02, OR = 1.9) had a significant association with MACE. CONCLUSIONS: RA is safe and effective, with high rate of procedural success and relatively low incidence of MACE. PVD, DM, ACS presentation and SYNTAX score were significant predictors for MACE. © 2016 Wiley Periodicals, Inc.


Assuntos
Aterectomia Coronária , Doença da Artéria Coronariana/terapia , Intervenção Coronária Percutânea , Calcificação Vascular/terapia , Adulto , Idoso , Idoso de 80 Anos ou mais , Aterectomia Coronária/efeitos adversos , Aterectomia Coronária/mortalidade , Doença da Artéria Coronariana/diagnóstico por imagem , Doença da Artéria Coronariana/mortalidade , Trombose Coronária/etiologia , Intervalo Livre de Doença , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Infarto do Miocárdio/etiologia , Razão de Chances , Intervenção Coronária Percutânea/efeitos adversos , Intervenção Coronária Percutânea/instrumentação , Intervenção Coronária Percutânea/mortalidade , Estudos Retrospectivos , Fatores de Risco , Índice de Gravidade de Doença , Stents , Acidente Vascular Cerebral/etiologia , Terapêutica , Fatores de Tempo , Reino Unido , Calcificação Vascular/diagnóstico por imagem , Calcificação Vascular/mortalidade
2.
Eur Heart J ; 35(38): 2672-84, 2014 Oct 07.
Artigo em Inglês | MEDLINE | ID: mdl-24682842

RESUMO

AIM: Transcatheter aortic valve implantation has become an alternative to surgery in higher risk patients with symptomatic aortic stenosis. The aim of the ADVANCE study was to evaluate outcomes following implantation of a self-expanding transcatheter aortic valve system in a fully monitored, multi-centre 'real-world' patient population in highly experienced centres. METHODS AND RESULTS: Patients with severe aortic stenosis at a higher surgical risk in whom implantation of the CoreValve System was decided by the Heart Team were included. Endpoints were a composite of major adverse cardiovascular and cerebrovascular events (MACCE; all-cause mortality, myocardial infarction, stroke, or reintervention) and mortality at 30 days and 1 year. Endpoint-related events were independently adjudicated based on Valve Academic Research Consortium definitions. A total of 1015 patients [mean logistic EuroSCORE 19.4 ± 12.3% [median (Q1,Q3), 16.0% (10.3, 25.3%)], age 81 ± 6 years] were enrolled. Implantation of the CoreValve System led to a significant improvement in haemodynamics and an increase in the effective aortic valve orifice area. At 30 days, the MACCE rate was 8.0% (95% CI: 6.3-9.7%), all-cause mortality was 4.5% (3.2-5.8%), cardiovascular mortality was 3.4% (2.3-4.6%), and the rate of stroke was 3.0% (2.0-4.1%). The life-threatening or disabling bleeding rate was 4.0% (2.8-6.3%). The 12-month rates of MACCE, all-cause mortality, cardiovascular mortality, and stroke were 21.2% (18.4-24.1%), 17.9% (15.2-20.5%), 11.7% (9.4-14.1%), and 4.5% (2.9-6.1%), respectively. The 12-month rates of all-cause mortality were 11.1, 16.5, and 23.6% among patients with a logistic EuroSCORE ≤10%, EuroSCORE 10-20%, and EuroSCORE >20% (P< 0.05), respectively. CONCLUSION: The ADVANCE study demonstrates the safety and effectiveness of the CoreValve System with low mortality and stroke rates in higher risk real-world patients with severe aortic stenosis.


Assuntos
Estenose da Valva Aórtica/cirurgia , Valva Aórtica/cirurgia , Próteses Valvulares Cardíacas , Substituição da Valva Aórtica Transcateter/instrumentação , Idoso , Idoso de 80 Anos ou mais , Insuficiência da Valva Aórtica/etiologia , Insuficiência da Valva Aórtica/mortalidade , Estenose da Valva Aórtica/mortalidade , Causas de Morte , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Desenho de Prótese , Substituição da Valva Aórtica Transcateter/mortalidade , Resultado do Tratamento
3.
J Clin Med ; 13(14)2024 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-39064126

RESUMO

Engaging intracoronary imaging (IC) techniques such as intravascular ultrasound or optical coherence tomography enables the precise description of vessel architecture. These imaging modalities have well-established roles in providing guidance and optimizing percutaneous coronary intervention (PCI) outcomes. Furthermore, IC is increasingly recognized for its diagnostic capabilities, as it has the unique capacity to reveal vessel wall characteristics that may not be apparent through angiography alone. This manuscript thoroughly reviews the contemporary landscape of IC in clinical practice. Focused on current methodologies, the review explores the utility and advancements in IC techniques. Emphasizing their role in clarifying coronary pathophysiology, guiding PCI, and optimizing patient outcomes, the manuscript critically evaluates the strengths and limitations of each modality. Additionally, the integration of IC into routine clinical workflows and its impact on decision-making processes are discussed. By synthesizing the latest evidence, this review provides valuable insights for clinicians, researchers, and healthcare professionals involved in the dynamic field of interventional cardiology.

4.
Genes (Basel) ; 15(3)2024 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-38540378

RESUMO

Inherited cardiomyopathies represent a highly heterogeneous group of cardiac diseases. DNA variants in genes expressed in cardiomyocytes cause a diverse spectrum of cardiomyopathies, ultimately leading to heart failure, arrythmias, and sudden cardiac death. We applied massive parallel DNA sequencing using a 72-gene panel for studying inherited cardiomyopathies. We report on variants in 25 families, where pathogenicity was predicted by different computational approaches, databases, and an in-house filtering analysis. All variants were validated using Sanger sequencing. Familial segregation was tested when possible. We identified 41 different variants in 26 genes. Analytically, we identified fifteen variants previously reported in the Human Gene Mutation Database: twelve mentioned as disease-causing mutations (DM) and three as probable disease-causing mutations (DM?). Additionally, we identified 26 novel variants. We classified the forty-one variants as follows: twenty-eight (68.3%) as variants of uncertain significance, eight (19.5%) as likely pathogenic, and five (12.2%) as pathogenic. We genetically characterized families with a cardiac phenotype. The genetic heterogeneity and the multiplicity of candidate variants are making a definite molecular diagnosis challenging, especially when there is a suspicion of incomplete penetrance or digenic-oligogenic inheritance. This is the first systematic study of inherited cardiac conditions in Cyprus, enabling us to develop a genetic baseline and precision cardiology.


Assuntos
Cardiomiopatias , Herança Multifatorial , Humanos , Chipre/epidemiologia , Cardiomiopatias/genética , Mutação , Análise de Sequência de DNA
5.
Curr Probl Cardiol ; 48(6): 101130, 2023 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-35114293

RESUMO

A continuous discussion regarding the predictors for permanent pacemaker implantation (PPI) following transcatheter aortic valve implantation (TAVI) is ongoing, especially in the era of low and medium risk patients. The aim of this article is to review the data so far regarding the pathophysiology, risk factors, and the indications for permanent pacemaker implantation after TAVI. The factors that contribute to rhythm abnormalities post TAVI can be divided into pre-existing conduction abnormalities, patient-related anatomical factors, and peri-procedural technical factors. The latter components are potentially modifiable, and this is where attention should be directed, particularly now that in an era of TAVI expansion towards lower-risk patients.


Assuntos
Estenose da Valva Aórtica , Próteses Valvulares Cardíacas , Marca-Passo Artificial , Substituição da Valva Aórtica Transcateter , Humanos , Substituição da Valva Aórtica Transcateter/efeitos adversos , Doença do Sistema de Condução Cardíaco/etiologia , Fatores de Risco , Estenose da Valva Aórtica/cirurgia , Valva Aórtica/diagnóstico por imagem , Valva Aórtica/cirurgia , Próteses Valvulares Cardíacas/efeitos adversos , Resultado do Tratamento
6.
Clin Case Rep ; 11(5): e7300, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37143461

RESUMO

Key Clinical Message: Cardiac ultrasound is recommended in investigating ischemic stroke events. There is increasing evidence that direct oral anticoagulants can be safely used instead of vitamin K antagonists in the setting of left ventricular thrombus. Abstract: Cardioembolic stroke is responsible for an increasing number of ischemic strokes. Compared to other causes of stroke, cardioembolic strokes affect a larger brain area. Left ventricular (LV) thrombi account for up to 10% of cardioembolic strokes. It is essential to identify patients at high risk of LV thrombus formation, such as patients with a history of myocardial infarction, patients with reduced ejection fraction, or patients with cardiomyopathies. We present a patient with an ischemic stroke, and the cardiac ultrasound revealed a reduced ejection fraction and the presence of LV thrombus at the apex. The patient had no prior history of cardiovascular diseases. Even in a resource-limited setting, cardiac ultrasound is recommended to investigate stroke or transient ischemic attack events, especially in patients with a prior history of myocardial infarction. Although patients with LV thrombus should be treated with oral anticoagulants for at least 3 months, the role of direct oral anticoagulants and the optimal period of anticoagulation in this setting needs further investigation.

7.
J Cardiovasc Dev Dis ; 9(11)2022 Nov 21.
Artigo em Inglês | MEDLINE | ID: mdl-36421942

RESUMO

Transcatheter aortic valve replacement (TAVI) has become a game changer in the management of severe aortic stenosis shifting the concept from inoperable or high-risk patients to intermediate or low surgical-risk individuals. Among devices available nowadays, there is no clear evidence that one device is better than the other or that one device is suitable for all patients. The selection of the optimal TAVI valve for every patient represents a challenging process for clinicians, given a large number of currently available devices. Consequently, understanding the advantages and disadvantages of each valve and personalising the valve selection based on patient-specific clinical and anatomical characteristics is paramount. This review article aims to both analyse the available devices in the presence of specific clinical and anatomic features and offer guidance to select the most suitable valve for a given patient.

8.
Chonnam Med J ; 58(3): 119-126, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36245773

RESUMO

The ongoing coronavirus disease 2019 (COVID-19) has caused a global health crisis. This prospective, observational, single-centre, cohort study investigated the influence of the second wave of the pandemic on the treatment of ST-segment elevation myocardial infarction (STEMI) patients admitted to the largest tertiary centre in Nicosia, Cyprus. We measured onset-to-door (O2D) time, door-to-balloon (D2B) time, onset-to-balloon (O2B) time, and 30-day mortality for 250 consecutive patients who presented directly or were transferred to Nicosia General Hospital from 1 January 2021, to 31 December 2021, during the second wave of the pandemic in Cyprus. We compared a control group of patients with similar clinical characteristics admitted before the COVID-19 outbreak. Median O2D time was increased from 89 min to 120 min (p-value=0.094). D2B time was not increased significantly (85.5 vs. 87 min, p-value=0.137). The total ischemic time (O2B time) was increased from 173.5 min to 232.5 min, respectively (173.5 vs. 232.5, p=0.001). During the pandemic, more patients presented with cardiogenic shock (3.94 vs. 13.6, p=0.001) and with cardiac arrest (9.85 vs. 17.2, p=0.035,) while there was an increase in 30-day mortality (4.43% vs. 8.8%, p-value=0.100). Patients with STEMI during the second wave of the COVID-19 pandemic seem to have presentation delays with increased total ischaemic times, presented more commonly in cardiogenic shock or cardiac arrest, increasing 30-day mortality.

9.
Tex Heart Inst J ; 49(5)2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-36223218

RESUMO

Giant aneurysm of the left main coronary artery is exceedingly rare and accounts for less than 2% of patients undergoing coronary angiography. The etiology varies depending on the patient's age and geographic area, but half are of atherosclerotic origin. In most cases, coronary aneurysms are asymptomatic, however, symptomatic patients present with symptoms characteristic of coronary artery disease such as chest pain (angina pectoris), myocardial infarction, congestive heart failure, and even sudden death. Coronary angiography is considered the gold standard tool to determine the presence or absence of coronary artery disease, and if present, its size and location. Herein, we report a case of giant aneurysm of the left main coronary artery presenting as syncope and documented nonsustained ventricular tachycardia.


Assuntos
Aneurisma Coronário , Doença da Artéria Coronariana , Angina Pectoris/etiologia , Arritmias Cardíacas/complicações , Aneurisma Coronário/diagnóstico , Aneurisma Coronário/diagnóstico por imagem , Angiografia Coronária/efeitos adversos , Doença da Artéria Coronariana/complicações , Humanos , Síncope/diagnóstico , Síncope/etiologia
10.
Tex Heart Inst J ; 49(5)2022 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-36269884

RESUMO

BACKGROUND: Vascular complications (VCs) after transfemoral transcatheter aortic valve implantation (TAVI) have an increased mortality risk, and vascular closure device (VCD) use is mandatory. The percutaneous MANTA VCD (Teleflex) is a novel collagen-based technology for closure of large-bore arteriotomies. We compared the MANTA VCD with the suture-based ProGlide VCD (Abbott Vascular). METHODS: A retrospective review was performed on all consecutive patients who underwent transfemoral TAVI in our center from January 1, 2015, to February 28, 2021, and 30-day outcomes were recorded. Major adverse cardiovascular events (MACE) were cardiac death, disabling stroke, and/or major VCs. Access site-related VCs were VCs related to the access site vessel from which the transcatheter valve was introduced and advanced. RESULTS: The MANTA VCD was used in 99 patients and the ProGlide in 224. There was 4.0% MACE in the MANTA group and 4.9% in the ProGlide group (P = .999). Overall VCs were 10.1% vs 7.6%, major VCs were 3.0% vs 2.2%, and minor VCs 7.1% vs 5.4%(P = .753). Access site-related VCs were 5.1% vs 5.8% in the (P = .999), and periprocedural vascular surgical intervention was needed in 6.1% of the MANTA group vs 2.2% of the ProGlide group (P = .099). CONCLUSION: There was no significant difference in MACE, mortality, cardiovascular mortality, VCs, access site-related VCs, periprocedural vascular surgical interventions, bleeding, or transfusion rate between the 2 groups. The MANTA VCD group had more periprocedural vascular surgical interventions which did not reach statistical significance.


Assuntos
Estenose da Valva Aórtica , Substituição da Valva Aórtica Transcateter , Dispositivos de Oclusão Vascular , Humanos , Dispositivos de Oclusão Vascular/efeitos adversos , Substituição da Valva Aórtica Transcateter/efeitos adversos , Estenose da Valva Aórtica/diagnóstico , Estenose da Valva Aórtica/cirurgia , Estenose da Valva Aórtica/etiologia , Artéria Femoral/cirurgia , Resultado do Tratamento , Colágeno , Valva Aórtica/diagnóstico por imagem , Valva Aórtica/cirurgia
11.
Curr Probl Cardiol ; 46(12): 100844, 2021 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-33994035

RESUMO

The optimal approach for Transcatheter aortic valve implantation (TAVI) is the transfemoral access but alternative TAVI approaches offer the possibility of valve replacement in patients who are not eligible to the transfemoral route. This review paper intends to compare the current available alternative approaches for TAVI in terms of their safety and efficacy, based on the current literature. The transapical, transaortic, transsubclavian, transcarotid, transcaval and suprasternal approaches have been analyzed. The choice of the alternative approach dependents on local Heart Team expertise, patient specific characteristics, access specific characteristics and the need or not for general anesthesia. More studies are needed to investigate the impact of each individual approach on long-term outcomes.


Assuntos
Estenose da Valva Aórtica , Substituição da Valva Aórtica Transcateter , Valva Aórtica/cirurgia , Estenose da Valva Aórtica/cirurgia , Humanos , Substituição da Valva Aórtica Transcateter/efeitos adversos , Resultado do Tratamento
12.
Hellenic J Cardiol ; 62(1): 57-64, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33007466

RESUMO

OBJECTIVE: TAVI is more frequently used to treat aortic stenosis with the mandate to have a low as possible rate of adverse events. We present our 30-day outcomes and one-year mortality and examine the factors associated with them. METHODS: A prospective evaluation was performed of all patients who underwent transfemoral TAVI in Nicosia General Hospital from January 2015 until March 2020. MACE were defined as cardiac death, disabling stroke, and/or major vascular complications (VC). Multiple logistic and Cox regression analyses were used to identify the factors associated with 30-day MACE and one-year mortality, respectively. RESULTS: A total of 235 TAVI procedures were performed (178 balloon-expandable, 57 self-expandable). Thirty-day outcomes were MACE: 4.3%, cardiovascular death: 2.1%, disabling stroke: 1.3%, major VC: 1.7%, and contrast induced nephropathy (CIN): 4.3%. There was a rate of 6.2% new pacemaker implantations and 0.9% of more than mild aortic valve regurgitation (AR) at 30 days. Mortality at one year was 15.1%. The balloon-expandable valves appear to have less new pacemakers, less mild AR, lower contrast volume used, and less days of hospitalization, while the self-expandable valves have lower post-procedural gradients. Low hemoglobulin, history of atrial fibrillation (AF), and lower BMI were predictors of 30-day MACE. Serum creatinine >2 mg/dL, history of AF, RVSP >60 mmHg and major VC are predictors of one-year mortality. CONCLUSION: We have shown excellent 30-day results with low incidence of adverse events for both the balloon-expandable and self-expandable valves. Clinical factors are the main predictors of both 30-day MACE and one-year mortality; major VC is a strong predictor of one-year mortality.


Assuntos
Insuficiência da Valva Aórtica , Estenose da Valva Aórtica , Fibrilação Atrial , Próteses Valvulares Cardíacas , Substituição da Valva Aórtica Transcateter , Valva Aórtica/cirurgia , Estenose da Valva Aórtica/cirurgia , Humanos , Complicações Pós-Operatórias/epidemiologia , Substituição da Valva Aórtica Transcateter/efeitos adversos , Resultado do Tratamento
13.
Oxf Med Case Reports ; 2020(6): omaa036, 2020 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-32626581

RESUMO

A 70-year-old woman with known history of hypertension presented because of a syncopal episode during dinner at a wedding party, followed by chest pain. On physical examination a systolic murmur was noted, and her electrocardiogram showed ST segment elevation in anterior leads. She had elevated troponin levels while echocardiography showed a hypertrophic interventricular septum with dyskinetic apex and left ventricular outflow (LVOT) obstruction. Emergency coronary angiography excluded obstructive coronary artery disease and confirmed the presence of LVOT obstruction with a gradient of 90 mm Hg. A left ventriculography showed hypercontractility of the basal and mid segments with apical wall dyskinesia indicating Takotsubo cardiomyopathy. Patient was discharged after 6 days of hospitalization with normalization of left ventricular function and regression of the LVOT obstruction. This is an interesting case of Takotsubo cardiomyopathy complicated with severe LVOT obstruction in a patient with hypertensive heart disease and a sigmoid septum hypertrophy.

14.
Rheumatol Int ; 29(6): 703-5, 2009 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-18941753

RESUMO

Neurological manifestations may complicate Takayasu arteritis (TA) but seizures are rare. A 40-year-old man with TA presented with recurrent episodes of epileptic seizures. Episodes consisted of a brief period of unresponsiveness followed by sudden falling, tonic stiffening and limb jerking. A postictal period with drowsiness, urine incontinence and a temporal loss of memory was also present. A carotid and intracranial duplex ultrasound revealed a reverse flow within the left vertebral artery indicating the presence of subclavian stealing syndrome while extracranial MRA suggested some stenosis at the origin of the left common carotid artery. The EEG was consistent with epilepsy. Neurological manifestations are secondary to ischemia caused by decreased blood flow in the involved carotid and vertebral arteries. Antiepileptic treatment proved effective and may be considered as a reasonable first approach. The stenotic lesions can be managed successfully with angioplasty but these procedures are associated with a high failure rate and may not be needed.


Assuntos
Estenose das Carótidas/diagnóstico por imagem , Epilepsia/complicações , Síndrome do Roubo Subclávio/diagnóstico por imagem , Arterite de Takayasu/diagnóstico por imagem , Artéria Vertebral/diagnóstico por imagem , Adulto , Anticonvulsivantes/uso terapêutico , Artéria Carótida Primitiva/diagnóstico por imagem , Seguimentos , Humanos , Angiografia por Ressonância Magnética/efeitos adversos , Masculino , Síndrome do Roubo Subclávio/etiologia , Fatores de Tempo , Resultado do Tratamento , Ultrassonografia Doppler Dupla/efeitos adversos , Ultrassonografia Doppler Transcraniana/efeitos adversos
15.
Echocardiography ; 26(2): 214-9, 2009 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-19138175

RESUMO

Primary cardiac lymphoma is defined as a non-Hodgkin's lymphoma mainly located in the heart and/or the pericardium. It is rare and affects elderly men. Common manifestations are pericardial effusion and heart failure. Diagnosis is usually late and prognosis is poor. We report a case of a patient with a large primary cardiac lymphoma who presented with chest pain and negative T-waves in electrocardiogram. Transthoracic echocardiogram showed a large mass in the right atrium and right ventricle while transesophageal echocardiogram also revealed the presence of large mobile masses in the right atrium, which were considered to be thrombi. Tissue biopsy showed a high-grade B-cell diffuse lymphocytic lymphoma. The patient was treated with chemotherapy and radiation with complete remission and prolonged survival.


Assuntos
Neoplasias Cardíacas/diagnóstico , Neoplasias Cardíacas/terapia , Linfoma Difuso de Grandes Células B/diagnóstico , Linfoma Difuso de Grandes Células B/terapia , Idoso , Dor no Peito/etiologia , Diagnóstico Diferencial , Ecocardiografia , Eletrocardiografia , Seguimentos , Átrios do Coração/diagnóstico por imagem , Neoplasias Cardíacas/complicações , Ventrículos do Coração/diagnóstico por imagem , Humanos , Linfoma Difuso de Grandes Células B/complicações , Masculino , Doenças Raras , Indução de Remissão/métodos
16.
J Interv Card Electrophysiol ; 19(1): 1-7, 2007 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17605093

RESUMO

BACKGROUND: Lamin proteins A and C are major functional and structural components of the nuclear lamina. Mutations of the LMNA gene have been associated with dilated cardiomyopathy, conduction system defects and skeletal muscle dystrophy simultaneously, in variable involvement. We report on a family with a mutation of the lamin A/C gene (c.908-909delCT). METHODS: Thirty five members of the family of a proband were studied and underwent clinical and genetic evaluation. Family members were considered to be affected if they demonstrated conduction system defects, limb-girdle muscular dystrophy, dilated cardiomyopathy, carried the lamin A/C mutation or suffered sudden death. RESULTS: Fifteen members of the family were considered to be affected. Conduction system defects were the major feature of the affected members (67%), with variable involvement of dilated cardiomyopathy (33%), and limb-girdle muscular dystrophy (53%). Sudden death occurred in four members (27%) and was the presenting feature in three (20%) of the affected members at an early age. Mutation c.908-909delCT was confirmed in 12 of the affected members. The pattern of inheritance was autosomal dominant. CONCLUSION: Lamin c.908-909delCT mutation is malignant compared to other dilated cardiomyopathy-associated mutations of the Lamin A/C gene. Patients with this mutation have rapid progression of atrioventricular conduction abnormalities, and sudden death may be the presenting feature. Early identification of affected families and consideration of an implantable defibrillator is important in this setting.


Assuntos
Cardiomiopatia Dilatada/genética , Lamina Tipo A/genética , Distrofia Muscular do Cíngulo dos Membros/genética , Adulto , Morte Súbita , Eletrocardiografia , Feminino , Genes Dominantes , Ligação Genética , Humanos , Escore Lod , Masculino , Pessoa de Meia-Idade , Mutação , Fenótipo
17.
J Heart Valve Dis ; 14(6): 859-62, 2005 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-16359071

RESUMO

The case is reported of non-bacterial thrombotic endocarditis (NBTE) in a patient with giant cell arteritis and prostate cancer, and the relevant literature reviewed. To the present authors' knowledge, this is the first case to be reported where NBTE coexists with both arteritis and cancer. NBTE is difficult to diagnose if the underlying disease is accompanied by fever. If a diagnosis of probable infective endocarditis is established, the cultures and serology are negative, and there is no response to antibiotic treatment, then NBTE should be considered.


Assuntos
Endocardite/diagnóstico , Arterite de Células Gigantes/complicações , Neoplasias da Próstata/complicações , Trombose/complicações , Idoso , Diagnóstico Diferencial , Endocardite/complicações , Endocardite Bacteriana/diagnóstico , Humanos , Masculino
20.
EuroIntervention ; 9(1): 118-24, 2013 May 20.
Artigo em Inglês | MEDLINE | ID: mdl-23410540

RESUMO

AIMS: Within a clinical trial population, direct thrombin inhibition using bivalirudin in patients undergoing primary percutaneous coronary intervention (PCI) for ST-elevation myocardial infarction (STEMI) is associated with a reduction in mortality and major bleeding compared to heparin/glycoprotein IIb/IIIa receptor inhibition (GPI), but a higher incidence of acute stent thrombosis (ST), particularly in the absence of pre-procedural heparin. The safety and efficacy of bivalirudin in an all-comer, real-world primary PCI setting is unknown. METHODS AND RESULTS: 968 consecutive STEMI patients (mean age 63 years, 72% male, 42% anterior STEMI, 3.7% cardiogenic shock) undergoing primary PCI with bivalirudin as the recommended anticoagulation, and with heparin/GPI (abciximab) as an alternative, were prospectively followed. Bivalirudin was administered as a bolus, high-dose procedural infusion and, unlike the HORIZONS-AMI trial, as a low-dose infusion for four hours post-PCI. Additional heparin was not routinely given. Mortality, major adverse cardiovascular events (MACE), major bleeding and ST were assessed at 30 days. Initial antithrombotic therapy was bivalirudin in 885 patients (91%), of whom 123 (13.9%) received additional antithrombin therapy, and 114 (11.8%) "bail-out" GPI. Outcomes for bivalirudin-treated patients were; mortality 5.2%, MACE 7.5%, major bleeding 3.8%. The incidence of acute ST was 1.0%, including in the absence of additional heparin (1.2%). Most cases of acute ST (7/9) occurred in the first four hours post-PCI. There was no significant difference in outcomes between patients treated with bivalirudin versus heparin/GPI. CONCLUSIONS: Routine use of bivalirudin in a real-world primary PCI population was associated with good 30-day outcomes. Acute stent thrombosis was infrequent, even without additional heparin. A continued low-dose infusion of bivalirudin did not appear to offer protection against very early stent thrombosis.


Assuntos
Antitrombinas/uso terapêutico , Infarto do Miocárdio/terapia , Fragmentos de Peptídeos/uso terapêutico , Intervenção Coronária Percutânea , Idoso , Antitrombinas/administração & dosagem , Antitrombinas/efeitos adversos , Trombose Coronária/etiologia , Trombose Coronária/prevenção & controle , Esquema de Medicação , Feminino , Hemorragia/induzido quimicamente , Hirudinas/administração & dosagem , Hirudinas/efeitos adversos , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/mortalidade , Razão de Chances , Fragmentos de Peptídeos/administração & dosagem , Fragmentos de Peptídeos/efeitos adversos , Intervenção Coronária Percutânea/efeitos adversos , Intervenção Coronária Percutânea/mortalidade , Estudos Prospectivos , Proteínas Recombinantes/administração & dosagem , Proteínas Recombinantes/efeitos adversos , Proteínas Recombinantes/uso terapêutico , Fatores de Risco , Fatores de Tempo , Resultado do Tratamento
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