ABSTRACT
No disponible
Subject(s)
Humans , Tachycardia/classification , Accessory Atrioventricular Bundle/diagnosis , Electrocardiography/methods , Diagnosis, DifferentialABSTRACT
No disponible
Subject(s)
Humans , Female , Adult , Tachycardia/diagnosis , Electrocardiography/methods , Diagnosis, DifferentialABSTRACT
BACKGROUND: Filamin C (encoded by the FLNC gene) is essential for sarcomere attachment to the plasmatic membrane. FLNC mutations have been associated with myofibrillar myopathies, and cardiac involvement has been reported in some carriers. Accordingly, since 2012, the authors have included FLNC in the genetic screening of patients with inherited cardiomyopathies and sudden death. OBJECTIVES: The aim of this study was to demonstrate the association between truncating mutations in FLNC and the development of high-risk dilated and arrhythmogenic cardiomyopathies. METHODS: FLNC was studied using next-generation sequencing in 2,877 patients with inherited cardiovascular diseases. A characteristic phenotype was identified in probands with truncating mutations in FLNC. Clinical and genetic evaluation of 28 affected families was performed. Localization of filamin C in cardiac tissue was analyzed in patients with truncating FLNC mutations using immunohistochemistry. RESULTS: Twenty-three truncating mutations were identified in 28 probands previously diagnosed with dilated, arrhythmogenic, or restrictive cardiomyopathies. Truncating FLNC mutations were absent in patients with other phenotypes, including 1,078 patients with hypertrophic cardiomyopathy. Fifty-four mutation carriers were identified among 121 screened relatives. The phenotype consisted of left ventricular dilation (68%), systolic dysfunction (46%), and myocardial fibrosis (67%); inferolateral negative T waves and low QRS voltages on electrocardiography (33%); ventricular arrhythmias (82%); and frequent sudden cardiac death (40 cases in 21 of 28 families). Clinical skeletal myopathy was not observed. Penetrance was >97% in carriers older than 40 years. Truncating mutations in FLNC cosegregated with this phenotype with a dominant inheritance pattern (combined logarithm of the odds score: 9.5). Immunohistochemical staining of myocardial tissue showed no abnormal filamin C aggregates in patients with truncating FLNC mutations. CONCLUSIONS: Truncating mutations in FLNC caused an overlapping phenotype of dilated and left-dominant arrhythmogenic cardiomyopathies complicated by frequent premature sudden death. Prompt implantation of a cardiac defibrillator should be considered in affected patients harboring truncating mutations in FLNC.
Subject(s)
Cardiomyopathies/genetics , DNA/genetics , Filamins/genetics , Mutation , Tachycardia, Ventricular/genetics , Adolescent , Adult , Aged , Cardiomyopathies/etiology , Cardiomyopathies/metabolism , Child , Child, Preschool , DNA Mutational Analysis , Female , Filamins/metabolism , Genotype , Humans , Immunohistochemistry , Infant , Male , Middle Aged , Prognosis , Retrospective Studies , Risk Factors , Tachycardia, Ventricular/complications , Tachycardia, Ventricular/metabolism , Young AdultABSTRACT
OBJECTIVE: To compare the prognosis during hospitalization and maximum follow-up of 4 years in patients with myocardial infarction complicated with cardiogenic shock. METHOD: Prospective observational study practiced in a coronary Care Unit managed by cardiologists. We included patients with myocardial infarction complicated with cardiogenic shock who received early coronary revascularization. Patients were divided into two groups: older than 75 years (group A) and lower (group B), and we compared the evolution during hospitalization and maximum follow-up of 4 years. Primary end point was mortality rate in the maximum follow-up of 4years. Secondary end point was mortality rate during hospitalization. RESULTS: Ninety-seven patients were included, 45% Group A. Patients of Group B were mostly men (81% vs. 57%; P=.014), diabetics (48% vs. 21%; P=0.006), and smokers (39.6% vs. 5%). Mortality rate during hospitalization was higher in Group A (54.5%) vs. 30.2% in Group B (P=.022). Mortality rate during follow-up (primary variable) was 73% in Group A vs. 38% in Group B (P=.007). CONCLUSIONS: Myocardial infarction complicated with cardiogenic shock in elderly patients is an entity with high mortality during hospitalization and continues to worsen during long term follow-up.
Subject(s)
Myocardial Ischemia/mortality , Shock, Cardiogenic/mortality , Age Factors , Aged , Female , Humans , Male , Myocardial Ischemia/complications , Prognosis , Prospective Studies , Shock, Cardiogenic/etiology , Survival Rate , Time FactorsABSTRACT
Objetivo: Comparar la evolución durante el ingreso y a largo plazo de pacientes con choque cardiogénico de origen isquémico. Método: Estudio observacional prospectivo unicéntrico llevado a cabo en la unidad coronaria de un hospital terciario manejada por cardiólogos. Se incluyen pacientes con choque cardiogénico de origen isquémico que recibieron revascularización coronaria precoz. Dividimos a los pacientes en 2 grupos: mayores de 75 anos (grupo A) y menores (grupo B), y comparamos la evolución durante el ingreso y en un seguimiento máximo de 4 años. El objetivo principal fue estimar la mortalidad a los 4 años. El objetivo secundario se definió como la mortalidad intrahospitalaria. Resultados: Incluimos a 97 pacientes, 44 del grupo A (45%). Los pacientes del grupo B eran con más frecuencia varones (81 vs. 57%, p = 0.014), diabéticos (49 vs. 21%, p: 0.006) y fumadores (39.6 vs. 4.5%, p < 0.05). La mortalidad hospitalaria fue superior en el grupo A (54.5 vs. 30.2%, p = 0.022). El objetivo principal ocurrió en 32 pacientes del grupo A frente a 20 del grupo B (73 vs. 38%, p = 0.007). Conclusión: El choque cardiogénico de origen isquémico en paciente mayores de 75 anos presenta una alta mortalidad durante la estancia hospitalaria y en el seguimiento a largo plazo.
Objective: To compare the prognosis during hospitalization and maximum follow-up of 4 years in patients with myocardial infarction complicated with cardiogenic shock. Method: Prospective observational study practiced in a coronary Care Unit managed by cardiologists. We included patients with myocardial infarction complicated with cardiogenic shock who received early coronary revascularization. Patients were divided into two groups: older than 75 years (group A) and lower (group B), and we compared the evolution during hospitalization and maximum follow-up of 4 years. Primary end point was mortality rate in the maximum follow-up of 4years. Secondary end point was mortality rate during hospitalization. Results: Ninety-seven patients were included, 45% Group A. Patients of Group B were mostly men (81% vs. 57%; P =.014), diabetics (48% vs. 21%; P = 0.006), and smokers (39.6% vs. 5%). Mortality rate during hospitalization was higher in Group A (54.5%) vs. 30.2% in Group B(P = .022). Mortality rate during follow-up (primary variable) was 73% in Group A vs. 38% in Group B (P =.007). Conclusions: Myocardial infarction complicated with cardiogenic shock in elderly patients is an entity with high mortality during hospitalization and continues to worsen during long term follow-up.
Subject(s)
Aged , Female , Humans , Male , Myocardial Ischemia/mortality , Shock, Cardiogenic/mortality , Age Factors , Myocardial Ischemia/complications , Prognosis , Prospective Studies , Survival Rate , Shock, Cardiogenic/etiology , Time FactorsABSTRACT
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Subject(s)
Humans , Male , Female , Hyperprolactinemia/complications , Hyperprolactinemia/diagnosis , Hyperprolactinemia/drug therapy , Cardiomyopathy, Dilated/complications , Cardiomyopathy, Dilated/drug therapy , Heart Valve Diseases/complications , Heart Valve Diseases/diagnosis , Dopamine Agonists/therapeutic use , Heart Valve Diseases/physiopathology , Heart Valve Diseases , Regression Analysis , Risk FactorsABSTRACT
Esporádicamente se presentan en la práctica clínica casos de heridas por arma de fuego que afectan el corazón, el pericardio y los grandes vasos. En el caso concreto de España, la afición a la caza hace que se atiendan pacientes con impacto de perdigones por accidente. El tratamiento de este tipo de traumatismo no está estandarizado, debido fundamentalmente a los pocos afectados tratados en cada centro particular. En esta presentación se describen dos casos consecutivos atendidos en nuestra institución por impacto de perdigón sobre estructuras cardíacas y cuya evolución fue satisfactoria con tratamiento conservador.
Cardiac shotgun injuries affecting the heart, pericardium and great vessels are occasionally encountered in clinical practice. Specifically in Spain, pellet wounds from hunting accidents have increased. The treatment of these injuries is not standardized due to the small number of cases attended in each particular center. We present two consecutive cases of cardiac pellet-gun related injuries treated in our institution with a conservative approach, with favorable outcomes.
ABSTRACT
Esporádicamente se presentan en la práctica clínica casos de heridas por arma de fuego que afectan el corazón, el pericardio y los grandes vasos. En el caso concreto de España, la afición a la caza hace que se atiendan pacientes con impacto de perdigones por accidente. El tratamiento de este tipo de traumatismo no está estandarizado, debido fundamentalmente a los pocos afectados tratados en cada centro particular. En esta presentación se describen dos casos consecutivos atendidos en nuestra institución por impacto de perdigón sobre estructuras cardíacas y cuya evolución fue satisfactoria con tratamiento conservador.(AU)
Cardiac shotgun injuries affecting the heart, pericardium and great vessels are occasionally encountered in clinical practice. Specifically in Spain, pellet wounds from hunting accidents have increased. The treatment of these injuries is not standardized due to the small number of cases attended in each particular center. We present two consecutive cases of cardiac pellet-gun related injuries treated in our institution with a conservative approach, with favorable outcomes.(AU)
ABSTRACT
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