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1.
Emergencias (Sant Vicenç dels Horts) ; 32(1): 26-32, feb. 2020. tab
Artigo em Espanhol | IBECS-Express | ID: ibc-ET2-3433

RESUMO

Objetivo: Investigar si existen diferencias clínicas y toxicológicas en pacientes intoxicados por anfetamina (ANF) y metanfetamina (MANF) atendidos en servicios de urgencias. Método: Estudio observacional retrospectivo de intoxicaciones por ANF y MANF con confirmación analítica en Baleares (2013-2018). Se compararon variables clínicas, toxicológicas y de manejo clínico entre grupos. Resultados: 1) Se incluyeron 120 pacientes, 86 (71,7%) grupo ANF y 34 (28,3%) grupo MANF. 2) La confirmación de derivados anfetamínicos se realizó por cromatografía de gases-espectrometría de masas en 787 muestras de orina previamente positivas mediante un método de cribado cualitativo. Se confirmaron 154 (19,6%) muestras. De ellas, 34 fueron excluidas. 3) Se encontraron diferencias significativas entre ANF y MANF en: edad (32,3 vs 28,4 años); sexo (72,1 vs 94,1% hombres); nacionalidad española (64,0 vs 29,4%); en motivos de admisión: alteración de conducta (15,1 vs 0%) y palpitaciones (1,2 vs 20,6%); y en características clínicas: agitación (27,9 vs 8,8%). No hubo diferencias de manejo clínico. El 76,6% de casos fueron polintoxicaciones, más comunes en ANF (82,6 vs 61,8%). En estos casos se detectó principalmente cocaína (63,0%), cannabis (48,9%), MDMA (38,0%) y alcohol (35,9%). La mayor asociación del cannabis con el grupo de ANF fue estadísticamente significativa (45,3 vs 17,6%). La causa de los falsos positivos se identificó en el 78,7% de muestras, siendo el MDMA (71,2%) la principal. Conclusiones: Se observaron diferencias entre ANF y MANF en cuanto a variables demográficas y motivo de asistencia; no obstante en esta serie hubo un alto porcentaje de polintoxicaciones


Objective: To determine whether clinical and toxicologic findings differed between cases of amphetamine (AMP) and methamphetamine (mAMP) poisoning attended in 2 Balearic Island hospital emergency departments. Methods: Retrospective observational study of AMP and mAMP cases with laboratory confirmation between 2013 and 2018. We compared clinical and toxicologic variables as well as clinical management between groups. Results: 1) A total of 120 cases were found: 86 (71.7%) with AMP poisoning and 34 (28.3%) with mAMP poisoning. 2) Drug poisoning was confirmed by gas chromatography associated with mass spectrometry (GC–MS) in 787 urine samples found to be positive during screening. One hundred fifty-four (19.6%) were confirmed by GC–MS. Thirtyfour of them did not meet the inclusion criteria. 3) Significant differences between AMP and mAMP cases were found for age (32.3 vs 28.4 y, respectively); sex (72.1% vs 94.1% men); and Spanish nationality (64.0% vs 29.4%). Reasons for admission and clinical features also differed: the reasons were aberrant behavior (15.1% in the AMP group vs 0% in the mAMP group) and palpitations (1.2% vs 20.6%); agitation was observed in 27.9% and 8.8%, respectively. Clinical management was similar in the 2 groups. Multiple drug poisoning was detected in 76.6% patients and was more common in patients in the AMP group (82.6% vs 61.8%). The additional drugs in these cases were mainly cocaine (63.0%), cannabis (48.9%), 3,4-methylenedioxy-N-methamphetamine (MDMA) (38.0%), and alcohol (35.9%). Cannabis was detected in a significantly higher proportion in the AMP group (45.3%) than in the mAMP group (17.6%). False positives were found in 78.7% of the samples. The culprit drug was most often MDMA (71.2%). Conclusions: AMP poisonings were associated with age over 30 years, Spanish nationality, aberrant behavior, agitation, multiple drug findings, and the use of cannabis. Poisonings caused by mAMP abuse were associated with age under 30 years, non-Spanish nationality, palpitations, and single-drug use

2.
Emergencias ; 32(1): 26-32, 2020 Feb.
Artigo em Espanhol, Inglês | MEDLINE | ID: mdl-31909909

RESUMO

OBJECTIVES: To determine whether clinical and toxicologic findings differed between cases of amphetamine (AMP) and methamphetamine (mAMP) poisoning attended in 2 Balearic Island hospital emergency departments. MATERIAL AND METHODS: Retrospective observational study of AMP and mAMP cases with laboratory confirmation between 2013 and 2018. We compared clinical and toxicologic variables as well as clinical management between groups. RESULTS: 1) A total of 120 cases were found: 86 (71.7%) with AMP poisoning and 34 (28.3%) with mAMP poisoning. 2) Drug poisoning was confirmed by gas chromatography associated with mass spectrometry (GC-MS) in 787 urine samples found to be positive during screening. One hundred fifty-four (19.6%) were confirmed by GC-MS. Thirtyfour of them did not meet the inclusion criteria. 3) Significant differences between AMP and mAMP cases were found for age (32.3 vs 28.4 y, respectively); sex (72.1% vs 94.1% men); and Spanish nationality (64.0% vs 29.4%). Reasons for admission and clinical features also differed: the reasons were aberrant behavior (15.1% in the AMP group vs 0% in the mAMP group) and palpitations (1.2% vs 20.6%); agitation was observed in 27.9% and 8.8%, respectively. Clinical management was similar in the 2 groups. Multiple drug poisoning was detected in 76.6% patients and was more common in patients in the AMP group (82.6% vs 61.8%). The additional drugs in these cases were mainly cocaine (63.0%), cannabis (48.9%), 3,4-methylenedioxy-N-methamphetamine (MDMA) (38.0%), and alcohol (35.9%). Cannabis was detected in a significantly higher proportion in the AMP group (45.3%) than in the mAMP group (17.6%). False positives were found in 78.7% of the samples. The culprit drug was most often MDMA (71.2%). CONCLUSION: AMP poisonings were associated with age over 30 years, Spanish nationality, aberrant behavior, agitation, multiple drug findings, and the use of cannabis. Poisonings caused by mAMP abuse were associated with age under 30 years, non-Spanish nationality, palpitations, and single-drug use.

6.
Orphanet J Rare Dis ; 14(1): 170, 2019 07 08.
Artigo em Inglês | MEDLINE | ID: mdl-31286959

RESUMO

Identification of Fabry disease (FD) in cardiac patients has been restricted so far to patients with left ventricular hypertrophy. Conduction problems are frequent in FD and could precede other manifestations, offering a possible earlier diagnosis.We studied the prevalence of FD in 188 patients < 70 years with conduction problems requiring pacemaker implantation. Although classical manifestations of FD were not rare, no patient with FD was identified. Screening efforts should not be conducted in this population.

7.
J Cardiovasc Transl Res ; 12(4): 389-390, 2019 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-31309403

RESUMO

The name of author M. Alejandra Restrepo-Cordoba was parsed incorrectly (in such a way as to suggest that her surname is "Alejandra Restrepo-Cordoba") in this article as published.

8.
Rev. esp. cardiol. (Ed. impr.) ; 72(5): 392-397, mayo 2019. tab, graf
Artigo em Espanhol | IBECS-Express | ID: ibc-ET1-4370

RESUMO

Introducción y objetivos: Los tratamientos actuales de la estenosis aórtica (EAo) grave incluyen el implante percutáneo de válvula aórtica (TAVI) y la cirugía de sustitución valvular aórtica (SVAo). El objetivo es describir la evolución de los pacientes con EAo grave tras la indicación de intervención, las variables que influyen en su pronóstico y los determinantes de un tiempo de espera superior a 2 meses. Métodos: Subanálisis del registro IDEAS (Influencia del Diagnóstico de Estenosis Aórtica Severa) en los pacientes a los que se indicó intervención. Resultados: De 726 pacientes con EAo grave diagnosticada en enero de 2014, se indicó intervención a 300 que son el foco del presente estudio. La media de edad era 74,0 +/- 9,7 años. Se intervino a 258 pacientes (86,0%): 59 con TAVI y 199 con SVAo. Al año, 42 (14,0%) continuaban sin intervención, ya sea por seguir en espera (34) o haber fallecido (8). La mitad de los pacientes que murieron antes del procedimiento fallecieron en los primeros 100 días. El tiempo hasta la intervención fue 2,9 +/- 1,6 meses para el TAVI y 3,5 +/- 0,2 meses para la SVAo (p = 0,03). Los predictores de mortalidad independientes fueron el sexo masculino (HR = 2,6; IC95%, 1,1-6,0), la insuficiencia mitral moderada-grave (HR = 2,6; IC95%, 1,5-4,5), la movilidad reducida (HR = 4,6; IC95%, 1,7-12,6) y la falta de intervención (HR = 2,3; IC95%, 1,02-5,03). Conclusiones: Los pacientes con EAo grave en espera de intervención tienen alto riesgo de mortalidad. Hay indicadores clínicos asociados con peor pronóstico que podrían indicar la necesidad de una intervención precoz


Introduction and objectives: Current therapeutic options for severe aortic stenosis (AS) include transcatheter aortic valve implantation (TAVI) and surgical aortic valve replacement (SAVR). Our aim was to describe the prognosis of patients with severe AS after the decision to perform an intervention, to study the variables influencing their prognosis, and to describe the determinants of waiting time > 2 months. Methods: Subanalysis of the IDEAS (Influence of the Severe Aortic Stenosis Diagnosis) registry in patients indicated for TAVI or SAVR. Results: Of 726 patients with severe AS diagnosed in January 2014, the decision to perform an intervention was made in 300, who were included in the present study. The mean age was 74.0 +/- 9.7 years. A total of 258 (86.0%) underwent an intervention: 59 TAVI and 199 SAVR. At the end of the year, 42 patients (14.0%) with an indication for an intervention did not receive it, either because they remained on the waiting list (34 patients) or died while waiting for the procedure (8 patients). Of the patients who died while on the waiting list, half did so in the first 100 days. The mean waiting time was 2.9 +/- 1.6 for TAVI and 3.5 +/- 0.2 months for SAVR (P = .03). The independent predictors of mortality were male sex (HR, 2.6; 95%CI, 1.1-6.0), moderate-severe mitral regurgitation (HR, 2.6; 95%CI, 1.5-4.5), reduced mobility (HR, 4.6; 95%CI, 1.7-12.6), and non intervention (HR, 2.3; 95%CI, 1.02-5.03). Conclusions: Patients with severe aortic stenosis a waiting therapeutic procedures have a high mortality risk. Some clinical indicators predict a worse prognosis and suggest the need for early intervention

9.
Rev. esp. med. legal ; 45(1): 32-34, ene.-mar. 2019. ilus
Artigo em Espanhol | IBECS | ID: ibc-182345

RESUMO

Se describen 2 casos de muerte súbita con hallazgo autópsico de una calcificación miocárdica difusa. El primer caso en posible relación a un hiperparatiroidismo primario por adenoma de paratiroides, y el segundo de origen indeterminado por autopsia incompleta. Se comentan los antecedentes clínicos y la descripción histopatológica de ambos casos, las posibles causas de la calcificación, y el mecanismo por el que pudo ocurrir la muerte súbita de ambos pacientes


Two cases are described of sudden death with an autopsy finding of significant myocardial calcification. The first case was in possibly due to primary hyperparathyroidism caused by parathyroid adenoma. The second case was of indeterminate origin due to incomplete autopsy. The clinical background and histopathological description of both cases, as well as the possible causes of the calcification, that have to be taken into account in the study of sudden death, are discussed


Assuntos
Humanos , Feminino , Adolescente , Adulto , Morte Súbita Cardíaca/etiologia , Calcinose/complicações , Cardiomiopatias/complicações , Patologia Legal/métodos , Fatores de Risco , Autopsia
11.
Rev Esp Cardiol (Engl Ed) ; 72(5): 392-397, 2019 May.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-29997054

RESUMO

INTRODUCTION AND OBJECTIVES: Current therapeutic options for severe aortic stenosis (AS) include transcatheter aortic valve implantation (TAVI) and surgical aortic valve replacement (SAVR). Our aim was to describe the prognosis of patients with severe AS after the decision to perform an intervention, to study the variables influencing their prognosis, and to describe the determinants of waiting time > 2 months. METHODS: Subanalysis of the IDEAS (Influence of the Severe Aortic Stenosis Diagnosis) registry in patients indicated for TAVI or SAVR. RESULTS: Of 726 patients with severe AS diagnosed in January 2014, the decision to perform an intervention was made in 300, who were included in the present study. The mean age was 74.0 ± 9.7 years. A total of 258 (86.0%) underwent an intervention: 59 TAVI and 199 SAVR. At the end of the year, 42 patients (14.0%) with an indication for an intervention did not receive it, either because they remained on the waiting list (34 patients) or died while waiting for the procedure (8 patients). Of the patients who died while on the waiting list, half did so in the first 100 days. The mean waiting time was 2.9 ± 1.6 for TAVI and 3.5 ± 0.2 months for SAVR (P = .03). The independent predictors of mortality were male sex (HR, 2.6; 95%CI, 1.1-6.0), moderate-severe mitral regurgitation (HR, 2.6; 95%CI, 1.5-4.5), reduced mobility (HR, 4.6; 95%CI, 1.7-12.6), and nonintervention (HR, 2.3; 95%CI, 1.02-5.03). CONCLUSIONS: Patients with severe aortic stenosis awaiting therapeutic procedures have a high mortality risk. Some clinical indicators predict a worse prognosis and suggest the need for early intervention.


Assuntos
Estenose da Valva Aórtica/cirurgia , Substituição da Valva Aórtica Transcateter/métodos , Idoso , Valva Aórtica/cirurgia , Estenose da Valva Aórtica/mortalidade , Tomada de Decisão Clínica , Feminino , Próteses Valvulares Cardíacas , Humanos , Masculino , Insuficiência da Valva Mitral/complicações , Insuficiência da Valva Mitral/mortalidade , Prognóstico , Estudos Prospectivos , Sistema de Registros , Fatores de Risco , Fatores Sexuais , Espanha/epidemiologia , Análise de Sobrevida , Substituição da Valva Aórtica Transcateter/mortalidade , Listas de Espera
13.
J Am Coll Cardiol ; 72(20): 2457-2467, 2018 11 13.
Artigo em Inglês | MEDLINE | ID: mdl-30442288

RESUMO

BACKGROUND: The genetic cause of hypertrophic cardiomyopathy remains unexplained in a substantial proportion of cases. Formin homology 2 domain containing 3 (FHOD3) may have a role in the pathogenesis of cardiac hypertrophy but has not been implicated in hypertrophic cardiomyopathy. OBJECTIVES: This study sought to investigate the relation between FHOD3 mutations and the development of hypertrophic cardiomyopathy. METHODS: FHOD3 was sequenced by massive parallel sequencing in 3,189 hypertrophic cardiomyopathy unrelated probands and 2,777 patients with no evidence of cardiomyopathy (disease control subjects). The authors evaluated protein-altering candidate variants in FHOD3 for cosegregation, clinical characteristics, and outcomes. RESULTS: The authors identified 94 candidate variants in 132 probands. The variants' frequencies were significantly higher in patients with hypertrophic cardiomyopathy (74 of 3,189 [2.32%]) than in disease control subjects (18 of 2,777 [0.65%]; p < 0.001) or in the gnomAD database (1,049 of 138,606 [0.76%]; p < 0.001). FHOD3 mutations cosegregated with hypertrophic cardiomyopathy in 17 families, with a combined logarithm of the odds score of 7.92, indicative of very strong segregation. One-half of the disease-causing variants were clustered in a small conserved coiled-coil domain (amino acids 622 to 655); odds ratio for hypertrophic cardiomyopathy was 21.8 versus disease control subjects (95% confidence interval: 1.3 to 37.9; p < 0.001) and 14.1 against gnomAD (95% confidence interval: 6.9 to 28.7; p < 0.001). Hypertrophic cardiomyopathy patients carrying (likely) pathogenic mutations in FHOD3 (n = 70) were diagnosed after age 30 years (mean 46.1 ± 18.7 years), and two-thirds (66%) were males. Of the patients, 82% had asymmetric septal hypertrophy (mean 18.8 ± 5 mm); left ventricular ejection fraction <50% was present in 14% and hypertrabeculation in 16%. Events were rare before age 30 years, with an annual cardiovascular death incidence of 1% during follow-up. CONCLUSIONS: FHOD3 is a novel disease gene in hypertrophic cardiomyopathy, accounting for approximately 1% to 2% of cases. The phenotype and the rate of cardiovascular events are similar to those reported in unselected cohorts. The FHOD3 gene should be routinely included in hypertrophic cardiomyopathy genetic testing panels.


Assuntos
Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/genética , Variação Genética/genética , Proteínas dos Microfilamentos/genética , Mutação/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Estudos de Coortes , Feminino , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Linhagem , Adulto Jovem
14.
J Am Coll Cardiol ; 72(20): 2471-2481, 2018 11 13.
Artigo em Inglês | MEDLINE | ID: mdl-30442290

RESUMO

BACKGROUND: The BAG3 (BLC2-associated athanogene 3) gene codes for an antiapoptotic protein located on the sarcomere Z-disc. Mutations in BAG3 are associated with dilated cardiomyopathy (DCM), but only a small number of cases have been reported to date, and the natural history of BAG3 cardiomyopathy is poorly understood. OBJECTIVES: This study sought to describe the phenotype and prognosis of BAG3 mutations in a large multicenter DCM cohort. METHODS: The study cohort comprised 129 individuals with a BAG3 mutation (62% males, 35.1 ± 15.0 years of age) followed at 18 European centers. Localization of BAG3 in cardiac tissue was analyzed in patients with truncating BAG3 mutations using immunohistochemistry. RESULTS: At first evaluation, 57.4% of patients had DCM. After a median follow-up of 38 months (interquartile range: 7 to 95 months), 68.4% of patients had DCM and 26.1% who were initially phenotype-negative developed DCM. Disease penetrance in individuals >40 years of age was 80% at last evaluation, and there was a trend towards an earlier onset of DCM in men (age 34.6 ± 13.2 years vs. 40.7 ± 12.2 years; p = 0.053). The incidence of adverse cardiac events (death, left ventricular assist device, heart transplantation, and sustained ventricular arrhythmia) was 5.1% per year among individuals with DCM. Male sex, decreased left ventricular ejection fraction. and increased left ventricular end-diastolic diameter were associated with adverse cardiac events. Myocardial tissue from patients with a BAG3 mutation showed myofibril disarray and a relocation of BAG3 protein in the sarcomeric Z-disc. CONCLUSIONS: DCM caused by mutations in BAG3 is characterized by high penetrance in carriers >40 years of age and a high risk of progressive heart failure. Male sex, decreased left ventricular ejection fraction, and enlarged left ventricular end-diastolic diameter are associated with adverse outcomes in patients with BAG3 mutations.


Assuntos
Proteínas Adaptadoras de Transdução de Sinal/genética , Proteínas Reguladoras de Apoptose/genética , Cardiomiopatia Dilatada/diagnóstico , Cardiomiopatia Dilatada/genética , Mutação/genética , Adolescente , Adulto , Cardiomiopatia Dilatada/fisiopatologia , Estudos de Coortes , Eletrocardiografia/estatística & dados numéricos , Feminino , Seguimentos , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/genética , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
16.
Rev. esp. cardiol. (Ed. impr.) ; 70(11): 933-940, nov. 2017. ilus, tab
Artigo em Espanhol | IBECS | ID: ibc-168319

RESUMO

Introducción y objetivos: La fibrosis intersticial en miocardiopatía hipertrófica (MCH) se ha propuesto como substrato de arritmias malignas. La fibrosis se asocia a expansión del volumen extracelular (VEC) que se puede cuantificar por tomografía computarizada (TC). El objetivo es analizar la asociación entre VEC determinado por TC y la presencia de arritmias malignas. Métodos: Estudio observacional de casos y controles en pacientes con MCH y desfibrilador automático implantable sometidos a TC con infusión continua de contraste yodado para cuantificar el VEC en equilibrio. Se comparó el VEC determinado por TC en las paredes septal y lateral de ventrículo izquierdo entre casos (presencia de arritmia maligna previa) y controles (sin arritmias malignas). Resultados: Se incluyó a 78 pacientes con MCH-desfibrilador automático implantable, 24 eran mujeres con una edad media de 52,1 ± 15,6 años. El VEC medio ± desviación estándar en pared septal fue 29,8 ± 6,3% en casos (n = 24) frente a 31,9 ± 8,5% en controles (n = 54); p = 0,282. El VEC medio en pared lateral fue 24,5 ± 6,8% en casos frente a 28,2 ± 7,4% en controles; p = 0,043. No se encontraron diferencias en el número de pacientes con choques apropiados entre los diferentes terciles de VEC. Por el contrario, se encontró una tendencia (p = 0,056) de un mayor número de pacientes dentro del menor tercil de VEC en pared lateral con descargas apropiadas. Conclusiones: El VEC en pacientes con MCH-desfibrilador automático implantable con arritmias malignas no se mostró incrementado comparado con pacientes con MCH-desfibrilador automático implantable sin arritmias. Estos hallazgos no apoyan en uso de VEC (subrogado de fibrosis difusa) como predictor de arritmias malignas en pacientes con MCH de alto riesgo (AU)


Introduction and objectives: Myocardial interstitial fibrosis, a hallmark of hypertrophic cardiomyopathy (HCM), has been proposed as an arrhythmic substrate. Fibrosis is associated with increased extracellular volume (ECV), which can be quantified by computed tomography (CT). We aimed to analyze the association between CT-determined ECV and malignant ventricular arrhythmias. Methods: A retrospective case-control observational study was conducted in HCM patients with implantable cardioverter-defibrillator, undergoing a CT-protocol with continuous iodine contrast infusion to determine equilibrium ECV. Left ventricular septal and lateral CT-determined ECV was compared between prespecified cases (malignant arrhythmia any time before CT scan) and controls (no prior malignant arrhythmias) and among ECV tertiles. Results: A total of 78 implantable cardioverter-defibrillator HCM patients were included; 24 were women, with a mean age of 52.1 ± 15.6 years. Mean ECV ± standard deviation in the septal left ventricular wall and was 29.8% ± 6.3% in cases (n = 24) vs 31.9% ± 8.5% in controls (n = 54); P= .282. Mean ECV in the lateral wall was 24.5% ± 6.8% in cases vs 28.2% ± 7.4% in controls; P= .043. On comparison of the entire population according to septal ECV tertiles, no significant differences were found in the number of patients receiving appropriate shocks. Conversely, we found a trend (P = .056) for a higher number of patients receiving appropriate shocks in the lateral ECV lowest tertile. Conclusions: Extracellular volume was not increased in implantable cardioverter-defibrillator HCM patients with malignant ventricular arrhythmias vs those without arrhythmias. Our findings do not support the use of ECV (a surrogate of diffuse fibrosis) as a predictor of arrhythmias in high-risk HCM patients (AU)


Assuntos
Humanos , Adulto , Pessoa de Meia-Idade , Cardiomiopatia Hipertrófica/complicações , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Estudos de Casos e Controles , Arritmias Cardíacas/complicações , Arritmias Cardíacas/diagnóstico por imagem , Fibrose Endomiocárdica/complicações , Fatores de Risco , Desfibriladores , Análise Estatística , Análise de Variância , Tomografia Computadorizada de Emissão , Prevenção Primária/métodos
17.
Int J Cardiol ; 248: 232-238, 2017 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-28811092

RESUMO

BACKGROUND: Chronic anticoagulation with vitamin K antagonists (VKAs) is recommended in patients with hypertrophic cardiomyopathy (HCM) and atrial fibrillation (AF). Direct oral anticoagulants (NOACs) are an alternative to VKAs but there are limited data to support their use in HCM. We sought to describe the pattern of use, thromboembolic events, bleeding and quality of life in patients with HCM and AF treated with NOACs. METHODS: Data from patients treated with NOACs (n=99) and VKA (n=433) at 9 inherited cardiac diseases units were retrospectively collected. Annual rates of embolic events, serious bleeding and death were analysed and compared. Quality of life and treatment satisfaction were evaluated with SF-36 and SAFUCA questionnaires in 80 NOAC-treated and 57 VKA-treated patients. RESULTS: After median follow-up of 63 months (IQR: 26-109), thromboembolic events (TIA/stroke and peripheral embolism) occurred in 10% of patients on oral anticoagulation. Major/clinically relevant bleeding occurred in 3.8% and the global mortality rate was 23.3%. Thromboembolic event rate was 0.62 per 100patient-years in the NOAC group vs. 1.59 in the VKA group [subhazard ratio (SHR) 0.32;95%CI:0.04-2.45; p=0.27]. Major/clinically relevant bleeding occurred in 0.62 per 100person-years in the NOAC group vs. 0.60 in the VKA group (SHR 1.28;95%CI 0.18-9.30; p=0.85). Quality of life scores were similar in both groups; however, NOAC-treated patients achieved higher scores in the SAFUCA. CONCLUSIONS: HCM patients with AF on NOACs showed similar embolic and bleeding rates to those on VKA. Although quality of life was similar in both groups, the NOAC group reported higher treatment satisfaction.


Assuntos
Anticoagulantes/administração & dosagem , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/tratamento farmacológico , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/tratamento farmacológico , Administração Oral , Idoso , Fibrilação Atrial/epidemiologia , Cardiomiopatia Hipertrófica/epidemiologia , Estudos de Coortes , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos
18.
Rev Esp Cardiol (Engl Ed) ; 70(11): 933-940, 2017 Nov.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-28341414

RESUMO

INTRODUCTION AND OBJECTIVES: Myocardial interstitial fibrosis, a hallmark of hypertrophic cardiomyopathy (HCM), has been proposed as an arrhythmic substrate. Fibrosis is associated with increased extracellular volume (ECV), which can be quantified by computed tomography (CT). We aimed to analyze the association between CT-determined ECV and malignant ventricular arrhythmias. METHODS: A retrospective case-control observational study was conducted in HCM patients with implantable cardioverter-defibrillator, undergoing a CT-protocol with continuous iodine contrast infusion to determine equilibrium ECV. Left ventricular septal and lateral CT-determined ECV was compared between prespecified cases (malignant arrhythmia any time before CT scan) and controls (no prior malignant arrhythmias) and among ECV tertiles. RESULTS: A total of 78 implantable cardioverter-defibrillator HCM patients were included; 24 were women, with a mean age of 52.1 ± 15.6 years. Mean ECV ± standard deviation in the septal left ventricular wall and was 29.8% ± 6.3% in cases (n = 24) vs 31.9% ± 8.5% in controls (n = 54); P = .282. Mean ECV in the lateral wall was 24.5% ± 6.8% in cases vs 28.2% ± 7.4% in controls; P = .043. On comparison of the entire population according to septal ECV tertiles, no significant differences were found in the number of patients receiving appropriate shocks. Conversely, we found a trend (P = .056) for a higher number of patients receiving appropriate shocks in the lateral ECV lowest tertile. CONCLUSIONS: Extracellular volume was not increased in implantable cardioverter-defibrillator HCM patients with malignant ventricular arrhythmias vs those without arrhythmias. Our findings do not support the use of ECV (a surrogate of diffuse fibrosis) as a predictor of arrhythmias in high-risk HCM patients.


Assuntos
Arritmias Cardíacas/patologia , Cardiomiopatia Hipertrófica/patologia , Miocárdio/patologia , Arritmias Cardíacas/etiologia , Arritmias Cardíacas/terapia , Cardiomiopatia Hipertrófica/complicações , Estudos de Casos e Controles , Desfibriladores Implantáveis , Fibrose Endomiocárdica/patologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Tamanho do Órgão/fisiologia , Estudos Prospectivos , Estudos Retrospectivos , Fatores de Risco , Tomografia Computadorizada por Raios X
19.
J Cardiovasc Transl Res ; 10(1): 35-46, 2017 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-28138913

RESUMO

This study sought to determine the usefulness of genetic testing to predict evolution in hypertrophic cardiomyopathy (HCM) and to assess the role of genetic testing in clinical practice. Genetic results of 100 HCM patients tested for mutations in ≥10 HCM-causing genes were evaluated. Patients were classified as with poor (group A) or favourable (group B) clinical course. Forty-five pathogenic mutations (PM) were identified in 28 patients (56 %) from group A and in 23 (46 %) from group B (p = 0.317). Only 40 patients (40 %) exhibited PM that had been previously reported and only 15 (15 %) had PM reported in ≥10 individuals. PM associated with poor prognosis were identified in just five patients from group A (10 %). Genetic findings are not useful to predict prognosis in most HCM patients. By contrast, real-world data reinforce the usefulness of genetic testing to provide genetic counselling and to enable cascade genetic screening.


Assuntos
Cardiomiopatia Hipertrófica/genética , Análise Mutacional de DNA , Mutação , Adulto , Idoso , Cardiomiopatia Hipertrófica/diagnóstico , Feminino , Marcadores Genéticos , Predisposição Genética para Doença , Humanos , Masculino , Pessoa de Meia-Idade , Fenótipo , Valor Preditivo dos Testes , Prognóstico , Estudos Retrospectivos , Fatores de Risco
20.
Med. clín (Ed. impr.) ; 148(2): 63-66, ene. 2017. tab, graf
Artigo em Espanhol | IBECS | ID: ibc-159190

RESUMO

Introducción y objetivo: La polineuropatía amiloidótica familiar causada por transtirretina) está caracterizada por la afectación del sistema nervioso. Las fibras nerviosas pequeñas se alteran de manera más precoz, por lo que la detección de su afectación tiene implicaciones serias en la historia natural de la enfermedad. Métodos: Estudio transversal, en el que se realizaron pruebas de detección de afectación de fibras nerviosas pequeñas en pacientes sintomáticos con TTR-PAF: Vibration, Touch Pressure (TP) y Heat Pain (HP). Los resultados se compararon con la exploración neurológica convencional y con un grupo de individuos sanos. Resultados: Se seleccionaron 15 pacientes con TTR-PAF en una fase precoz de la enfermedad (60% en estadio 1) y 13 individuos sanos. En la comparación entre ambos grupos no existían diferencias en cuanto a sexo, edad, peso, talla o IMC; sin embargo, en los test neurofisiológicos realizados se evidenciaron diferencias estadísticamente significativas: Vibration (p < 0,05), TP (p < 0,05) y HP (p < 0,05, excepto en la localización de antebrazo). Conclusiones: Los test neurofisiológicos realizados describen diferencias significativas entre ambos grupos, lo que podría permitir la detección del daño neurológico de forma más precoz que cuando se realiza una exploración neurológica convencional (AU)


Introduction and objective: Transthyretin-associated familial amyloid polyneuropathy (TTR-FAP) is a disease caused by the deposit of abnormal transthyretin on tissues, mainly nerves. Small nerve fibers are altered earlier during the course of the disease; hence, detection of their involvement may have serious consequences on the natural history of disease. Methods: A cross-sectional, observational study, was carried out on symptomatic patients, involving the conduct of several tests for small nerve fibers: Vibration, Touch Pressure (TP) and Heat Pain (HP). Results were compared with those obtained during a conventional neurological examination carried out on a group of healthy individuals. Results: Fifteen symptomatic patients were recruited at an early stage of the disease (60% stage 1), along with 13 healthy individuals, with both patient groups having similar epidemiological characteristics in terms of gender, age, weight, height or BMI. A comparison carried out between the neuropsychological tests performed revealed statistically significant differences: Vibration (P < .05), TP (P < .05) and HP (P < .05, except volar forearm). Conclusions: The neurophysiological tests performed revealed significant differences between both groups, allowing for an earlier detection of neurological injuries compared to conventional neurological examinations (AU)


Assuntos
Humanos , Neuropatias Amiloides Familiares/diagnóstico , Pré-Albumina/efeitos adversos , Técnicas de Diagnóstico Neurológico/instrumentação , Diagnóstico Precoce , Fibras Nervosas/fisiologia , Estudos Transversais , Reprodutibilidade dos Testes , Reprodutibilidade dos Testes , Condução Nervosa/fisiologia
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