RESUMO
Formin homology 2 domain-containing 3 (FHOD3) gene has emerged as one of the main non-sarcomeric genes associated with hypertrophic cardiomyopathy (HCM), but no cases of biallelic variants associated with disease have been described to date. From 2014 until 2021, FHOD3 was evaluated in our center by next-generation sequencing in 22 806 consecutive unrelated probands. The p.Arg637Gln variant in FHOD3 was enriched in our HCM cohort (284 of 9668 probands; 2.94%) compared with internal controls (64 of 11 480; 0.59%) and gnomAD controls (373 of 64 409; 0.58%), with ORs of 5.40 (95% CI: 4.11 to 7.09) and 5.19 (95% CI: 4.44 to 6.07). The variant affects a highly conserved residue localised in a supercoiled alpha helix considered a clustering site for HCM variants, and in heterozygosis can act as a predisposing factor (intermediate-effect variant) for HCM, with an estimated penetrance of around 1%. Additionally, seven homozygous carriers of p.Arg637Gln in FHOD3 were identified. All but one (unaffected) showed an early presentation and a severe HCM phenotype. All this information suggest that p.Arg637Gln variant in FHOD3 is a low-penetrant variant, with an intermediate effect, that contributes to the development of HCM in simple heterozygosis, being associated with a more severe phenotype in homozygous carriers.
Assuntos
Cardiomiopatia Hipertrófica , Humanos , Cardiomiopatia Hipertrófica/genética , Fenótipo , Homozigoto , Penetrância , Heterozigoto , Forminas/genéticaRESUMO
Introducción: Si bien el impacto de la infección por SARS-CoV-2 sobre el sistema cardiovascular es conocido en fase aguda, la repercusión cardiovascular de la población anciana superviviente a la infección respiratoria por la COVID-19 a largo plazo no ha sido suficientemente estudiada.Métodos: Registro observacional de 240 pacientes ancianos (75 o más años), ingresados de forma consecutiva por infección respiratoria por la COVID-19 y supervivientes a la misma, entre el 1 de marzo y el 30 abril de 2020, en el Hospital General Universitario de Ciudad Real. Se analizó de forma prospectiva la incidencia de eventos cardiovasculares mayores (MACE) (mortalidad cardiovascular, síndrome coronario agudo, accidente cerebrovascular, enfermedad tromboembólica e insuficiencia cardiaca).Resultados: La edad media fue de 83,75±5,75 años. Tras un seguimiento medio de 352,2±70,4 días el 13,8% de los pacientes falleció y el 9,6% presentó MACE, siendo el más frecuente la insuficiencia cardiaca, sin diferencias en la gravedad ni evolución general de la enfermedad aguda. En el modelo de regresión de Cox multivariante el riesgo de desarrollar MACE fue mayor en los pacientes con enfermedad pulmonar obstructiva crónica (HR 4,29; IC 95% 1,62-11,39; p=0,003) y diurético de asa (HR 2,99; IC 95% 1,27-7,07; p=0,01).Conclusiones: En población anciana superviviente a la COVID-19 la incidencia de MACE tras un año de seguimiento es elevada, siendo la principal manifestación la insuficiencia cardiaca. (AU)
Introduction: Although the effects of SARS-CoV-2 infection on the cardiovascular system is well known in the acute phase, the cardiovascular impact of the elderly population surviving COVID-19 respiratory infection after 1 year of follow-up has not been sufficiently studied.Methods: Observational registry of 240 elderly patients (75 years or older), consecutively admitted for COVID-19 respiratory infection and survivors of the same, between March 1 and April 30, 2020, at the Hospital General Universitario de Ciudad Real. The incidence of major cardiovascular events [MACE] (cardiovascular death [CD], acute coronary syndrome [ACS], cerebrovascular disease [CVD], venous thromboembolic disease [VTE] and heart failure [HF]) was prospectively analysed.Results: The mean age was 83.75±5.75 years. After a mean follow-up of 352.2±70.4 days, 13.8% of patients died and 9.6% had MACE, the most frequent being heart failure, with no differences in severity or overall course of acute illness. In the multivariate Cox regression model, the risk of developing MACE was higher in patients with chronic obstructive pulmonary disease and (HR 4.29; 95%CI 1.62-11.39; P=.003) and loop diuretic (HR 2.99; 95%CI 1.27-7.07; P=.01).Conclusions: In elderly COVID-19 survivors, the incidence of MACE after one year of follow-up is high, the main manifestation being heart failure.
Assuntos
Humanos , Idoso , Idoso de 80 Anos ou mais , Infecções por Coronavirus , Epidemiologia , Pandemias , Doenças Cardiovasculares , Pneumonia , Infecções RespiratóriasRESUMO
Resumen Es frecuente la relación entre la adrenalina administrada por vía intramuscular y el desarrollo de cardiopatía isquémica. La adrenalina potencia las hemostasias primaria y secundaria -puede producir trombosis intracoronaria- y causa vasoconstricción transitoria arteriolar. Se presenta un caso clínico de una paciente que acudió a urgencias por dolor torácico pocas horas después de una intervención dentaria. En el estudio posterior se descubrió un infarto de miocardio por trombosis intracoronaria de la descendente anterior distal.
Abstract There is a relationship between adrenaline administered intramuscularly and the development of ischaemic heart disease. Adrenaline promotes primary and secondary haemostasis, which can produce a coronary thrombosis and cause a transient arteriolar vasoconstriction. A case is presented of a patient who was seen in the Emergency Department with chest pain a few hours after dental treatment. In the subsequent work-up, it was discovered that she had a myocardial infarction due to a coronary thrombosis of the left anterior distal artery.
Assuntos
Humanos , Feminino , Idoso , Isquemia Miocárdica , Trombose , Doença da Artéria Coronariana , Infarto do MiocárdioRESUMO
INTRODUCCIÓN: La presencia de hipertensión arterial se asocia con peor pronóstico en pacientes con COVID-19, y se ha sugerido que el uso de inhibidores del eje renina-angiotensina puede influir en el pronóstico de los pacientes. MÉTODOS: Registro observacional de 921 pacientes consecutivos ingresados por infección respiratoria COVID-19 entre el 1 de marzo y el 30 abril de 2020 en el Hospital General Universitario de Ciudad Real. Se registraron datos clínicos y analíticos, intervenciones terapéuticas y desarrollo de eventos durante el ingreso hospitalario. RESULTADOS: La mediana de edad fue de 78 años y el 59,2% tenían hipertensión arterial. Aunque el perfil clínico fue más desfavorable en el grupo de pacientes con prescripción previa de IECA o ARA2 respecto al resto, los primeros presentaron menor riesgo de desarrollo del evento primario combinado (mortalidad total o necesidad de soporte ventilatorio invasivo). Asimismo, el empleo previo al ingreso o durante el mismo de estos fármacos mostró un efecto neutro sobre la mortalidad total y sobre la necesidad de ventilación mecánica invasiva. En el análisis de supervivencia no se observó mayor riesgo de presentar más precozmente ninguno de los eventos registrados. CONCLUSIONES: La prescripción previa al ingreso por infección respiratoria COVID-19 de inhibidores del eje renina-angiotensina se asoció a un menor riesgo de desarrollo del evento primario combinado y a un efecto neutro sobre la mortalidad total y sobre la necesidad de ventilación mecánica invasiva
INTRODUCTION: Hypertension has been associated with worse outcomes in patients with COVID-19 infection, so concerns have been raised about the possibility that inhibitors of the renin-angiotensin system (RAS) could influence the prognosis of these patients. METHODS: This is an observational study of 921 consecutive patients admitted with COVID-19 respiratory infection to Hospital General Universitario Ciudad Real from March 1 to April 30, 2020. Following data were collected including patient demographic information, medical history, clinical characteristics, laboratory data, therapeutic interventions during the hospitalization and clinical outcomes. RESULTS: The mean age was 78 years, and 59.2% of patients had a history of hypertension. Patients with previous treatment with RAS inhibitor (42.4%) showed lower risk of the primary composite endpoint (mortality or need for invasive mechanical ventilation). Treatment with RAS inhibitor (both outpatient treatment and during hospitalization) had neither effect on mortality nor need for invasive ventilation. There were no differences in time-to-event analysis between groups. CONCLUSIONS: RAS inhibitor treatment prior to admission in patients with COVID-19 respiratory infection was associated with lower risk of the primary composite endpoint and did not show neither impact on mortality nor need for invasive mechanical ventilation, even if these drugs were prescribed during hospitalization
Assuntos
Humanos , Masculino , Feminino , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Inibidores da Enzima Conversora de Angiotensina/uso terapêutico , Infecções por Coronavirus/epidemiologia , Pneumonia Viral/epidemiologia , Hipertensão/complicações , Prognóstico , Estudos de Coortes , Pandemias , Betacoronavirus , Hospitalização , Sistema Renina-Angiotensina , Serviços de Assistência Domiciliar , Hipertensão/tratamento farmacológico , Modelos Logísticos , Análise de SobrevidaRESUMO
Resumen Objetivo: Encontrar una relación entre los niveles de proteína C reactiva (PCR) y fibrinógeno, y la extensión de la aterosclerosis en el síndrome coronario agudo. Métodos: Estudio observacional prospectivo, en el que se incluyeron 873 pacientes con síndrome coronario atendidos en un hospital entre 2016 y 2018. Se analizaron niveles de PCR y fibrinógeno, marcadores metabólicos y extensión de la aterosclerosis coronaria. Resultados: No se halló correlación positiva entre los niveles de PCR y fibrinógeno y los marcadores metabólicos, así como tampoco con enfermedad de uno, dos y tres vasos (p 0,829; p 0,810). Conclusiones: Los niveles sanguíneos de PCR y fibrinógeno se relacionan con la tasa de eventos cardiovasculares, pero no se ha podido demostrar que exista relación entre estos y la severidad de la aterosclerosis coronaria.
Abstract Objective: To determine whether there is a relationship between C - reactive protein and fibrinogen levels and the extent of atherosclerosis in acute coronary syndrome. Methods: A prospective observational study was conducted that include 873 patients with coronary syndrome treated in a hospital between the years 2016 and 2018. An analysis was made that included C - reactive protein and fibrinogen levels, metabolic markers, extent of coronary atherosclerosis. Results: No positive correlation was found between the C - reactive protein and fibrinogen levels and the metabolic markers, nor with one, two, or three vessel disease (P=.829; P=.810). Conclusions: Although blood C-Reactive Protein and fibrinogen levels are associated with the rate of cardiovascular events, this study was unable to demonstrate whether there is a relationship between these and the severity of the coronary atherosclerosis.