Pub Date : 2023-04-01DOI: 10.7775/rac.v91.i2.20618
Carlos Soledispa, Marco Larrea, Stephanie Alberca Bonilla, Ariel Zelaya, Klinton Zanago
{"title":"Coronary-Pulmonary Artery Fistula as Cause of Acute Coronary Syndrome","authors":"Carlos Soledispa, Marco Larrea, Stephanie Alberca Bonilla, Ariel Zelaya, Klinton Zanago","doi":"10.7775/rac.v91.i2.20618","DOIUrl":"https://doi.org/10.7775/rac.v91.i2.20618","url":null,"abstract":"","PeriodicalId":34966,"journal":{"name":"Revista Argentina de Cardiologia","volume":"69 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"83730473","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-04-01DOI: 10.7775/rac.v91.i2.20615
E. Duronto
{"title":"Dual Antiplatelet Therapy After Acute Coronary Syndrome: A Constantly Evolving Strategy","authors":"E. Duronto","doi":"10.7775/rac.v91.i2.20615","DOIUrl":"https://doi.org/10.7775/rac.v91.i2.20615","url":null,"abstract":"","PeriodicalId":34966,"journal":{"name":"Revista Argentina de Cardiologia","volume":"35 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"77304237","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-04-01DOI: 10.7775/rac.v91.i2.20610
Benjamín Saenz, M. G. Matta, F. Blautzik, A. Corral, F. Sampayo, Federico Piedrabuena
Background: Severe hypertriglyceridemia (SHTG) is a metabolic disorder with multiple origins and management implications. Prevalence, clinical characteristics, and its possible causes are unknown in Argentina. Objective: The aim of this study was to estimate the prevalence and describe the clinical characteristics and underlying SHTG causes in a third level hospital in the municipality of General Pueyrredón. Methods: An observational, descriptive study was performed using an electronic database from a provincial Hospital. It included adult patients with triglyceride (TG) levels above 885 mg/dL (10 mmol/L) evaluated from January 2018 to December 2021. Medi cal records were collected, and patients were then contacted to obtain anthropometric measurements, sociodemographic variables, personal and family history, secondary causes of hypertriglyceridemia, and treatment received. Results: Among 16 029 patients analyzed, 46 presented SHTG, representing a total prevalence of 0.28% (95% CI 0.20-0.40%). Finally, 19 participants with mean age 48.47±16 years and 84.2% men were included in the analysis. Median TG level was 1821 mg/dL (in terquartile range 917-7000 mg/dL), and 17 participants (84.97%) had hypercholesterolemia (total cholesterol >200 mg/dL). Almost 50% reported alcohol consumption, 55% were obese and 68% had type II diabetes. Nine participants were under pharmacological treatment, 4 with fibrates and 5 with statins. Conclusion: A prevalence of 0.28% SHTG was found, higher than that reported in other series. Another finding was the un- deruse of medication for this severe dyslipidemia.
{"title":"Severe Hypertriglyceridemia in Argentina: Prevalence and Clinical Characteristics","authors":"Benjamín Saenz, M. G. Matta, F. Blautzik, A. Corral, F. Sampayo, Federico Piedrabuena","doi":"10.7775/rac.v91.i2.20610","DOIUrl":"https://doi.org/10.7775/rac.v91.i2.20610","url":null,"abstract":"Background: Severe hypertriglyceridemia (SHTG) is a metabolic disorder with multiple origins and management implications. Prevalence, clinical characteristics, and its possible causes are unknown in Argentina. Objective: The aim of this study was to estimate the prevalence and describe the clinical characteristics and underlying SHTG causes in a third level hospital in the municipality of General Pueyrredón. Methods: An observational, descriptive study was performed using an electronic database from a provincial Hospital. It included adult patients with triglyceride (TG) levels above 885 mg/dL (10 mmol/L) evaluated from January 2018 to December 2021. Medi cal records were collected, and patients were then contacted to obtain anthropometric measurements, sociodemographic variables, personal and family history, secondary causes of hypertriglyceridemia, and treatment received. Results: Among 16 029 patients analyzed, 46 presented SHTG, representing a total prevalence of 0.28% (95% CI 0.20-0.40%). Finally, 19 participants with mean age 48.47±16 years and 84.2% men were included in the analysis. Median TG level was 1821 mg/dL (in terquartile range 917-7000 mg/dL), and 17 participants (84.97%) had hypercholesterolemia (total cholesterol >200 mg/dL). Almost 50% reported alcohol consumption, 55% were obese and 68% had type II diabetes. Nine participants were under pharmacological treatment, 4 with fibrates and 5 with statins. Conclusion: A prevalence of 0.28% SHTG was found, higher than that reported in other series. Another finding was the un- deruse of medication for this severe dyslipidemia.","PeriodicalId":34966,"journal":{"name":"Revista Argentina de Cardiologia","volume":"36 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"85713226","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-04-01DOI: 10.7775/rac.v91.i2.20614
J. Furmento, A. Candiello, Pablo Mascolo, P. Lamelas, Alan Chapman, I. Sigal
Background: If available, primary transluminal coronary angioplasty (PTCA), performed timely and in experienced sites, is the best reperfusion strategy for ST elevation myocardial infarction (STEMI). The door-to-balloon (DTB) time expresses operational efficiency of the site in charge of the PTCA, with an impact on patient’s progress. The aim of this study was to analyze the long-term results of a continuous improvement program for the DTB time process. Methods: Patients diagnosed with STEMI who had undergone PTCA from January 2015 to May 2022 were prospectively and consecutively enrolled. The population was divided in two periods: an immediate implementation period and a long-term follow-up period. Results: 671 patients were prospectively and consecutively enrolled. During the implementation period (P1) 91 patients were enrolled, and 580 during the program follow-up (P2) . The median (interquartile range, IQR) DTB time was 46 min (29-59) for P1 vs 42 min(25-52) for P2, p=0.055). The second period showed a reduction in pre-activations (P1 54,1% vs P2 30 %, p=0.02) and on-hour procedures (42% for P1 versus 30% for P2, p=0.029). Conclusion: The registry showed long-term maintenance of good results, despite reduced reactivations and on-hour procedures.
{"title":"Optimization of Door-to-Balloon Time Implementing a Process Improvement Program. Results after 5 Years","authors":"J. Furmento, A. Candiello, Pablo Mascolo, P. Lamelas, Alan Chapman, I. Sigal","doi":"10.7775/rac.v91.i2.20614","DOIUrl":"https://doi.org/10.7775/rac.v91.i2.20614","url":null,"abstract":"Background: If available, primary transluminal coronary angioplasty (PTCA), performed timely and in experienced sites, is the best reperfusion strategy for ST elevation myocardial infarction (STEMI). The door-to-balloon (DTB) time expresses operational efficiency of the site in charge of the PTCA, with an impact on patient’s progress. The aim of this study was to analyze the long-term results of a continuous improvement program for the DTB time process. Methods: Patients diagnosed with STEMI who had undergone PTCA from January 2015 to May 2022 were prospectively and consecutively enrolled. The population was divided in two periods: an immediate implementation period and a long-term follow-up period. Results: 671 patients were prospectively and consecutively enrolled. During the implementation period (P1) 91 patients were enrolled, and 580 during the program follow-up (P2) . The median (interquartile range, IQR) DTB time was 46 min (29-59) for P1 vs 42 min(25-52) for P2, p=0.055). The second period showed a reduction in pre-activations (P1 54,1% vs P2 30 %, p=0.02) and on-hour procedures (42% for P1 versus 30% for P2, p=0.029). Conclusion: The registry showed long-term maintenance of good results, despite reduced reactivations and on-hour procedures.","PeriodicalId":34966,"journal":{"name":"Revista Argentina de Cardiologia","volume":"10 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82467743","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-04-01DOI: 10.7775/rac.v91.i2.20624
Perez De Isla, A. Saltijeral Cerezo
Risk scores or risk scales are equations designed to determine the likelihood of an event occurring. In cardiology, cardiovascular risk scales are intended to calculate the probability of an individual’s experiencing a cardiovascular event over a period. Because of their widespread use, when we refer to risk scales, we are generally talking about scores that predict the occurrence of cardiovascular events related to atherosclerosis. But we must not forget that there are other scores dealing with other types of heart diseases. As the article in question states, (1) these scales are merely mathematical equations based on a series of variables that define risk much better than those same variables separately, as they consider the interactions that exist between their presence and intensity. The variables usually used should be accessible, pragmatic and, at the same time, valid for prediction. The accuracy of a risk equation in predicting the probability of an event occurring is usually calculated using a mathematical index called Harrell’s C-index. (2) Risk scores are very useful clinical tools, but we must be aware of their limitations before using them. Firstly, many important variables are not considered when designing a risk equation; therefore, they will have no effect in determining greater or lower risk. A clear example is seen in equations that include systolic blood pressure but not diastolic blood pressure for risk assessment. (3) What about a patient who has elevated diastolic pressure and controlled systolic pressure? Is his/her risk not increased? We believe this may be an example as easy to understand as the fact that body mass index is not yet included in many risk estimation scores. (3) Secondly, we must bear in mind that risk equations determine probability of experiencing a cardiovascular event in a population and not in a specific subject. Therefore, we can state that a certain probability will be fulfilled in a population of, for example, 1000 subjects, but we will most likely not be able to determine the exact probability of suffering a cardiovascular event in a specific subject. Further-
{"title":"Cardiovascular Risk Scores: Great Tools... When Used by Good Physicians","authors":"Perez De Isla, A. Saltijeral Cerezo","doi":"10.7775/rac.v91.i2.20624","DOIUrl":"https://doi.org/10.7775/rac.v91.i2.20624","url":null,"abstract":"Risk scores or risk scales are equations designed to determine the likelihood of an event occurring. In cardiology, cardiovascular risk scales are intended to calculate the probability of an individual’s experiencing a cardiovascular event over a period. Because of their widespread use, when we refer to risk scales, we are generally talking about scores that predict the occurrence of cardiovascular events related to atherosclerosis. But we must not forget that there are other scores dealing with other types of heart diseases. As the article in question states, (1) these scales are merely mathematical equations based on a series of variables that define risk much better than those same variables separately, as they consider the interactions that exist between their presence and intensity. The variables usually used should be accessible, pragmatic and, at the same time, valid for prediction. The accuracy of a risk equation in predicting the probability of an event occurring is usually calculated using a mathematical index called Harrell’s C-index. (2) Risk scores are very useful clinical tools, but we must be aware of their limitations before using them. Firstly, many important variables are not considered when designing a risk equation; therefore, they will have no effect in determining greater or lower risk. A clear example is seen in equations that include systolic blood pressure but not diastolic blood pressure for risk assessment. (3) What about a patient who has elevated diastolic pressure and controlled systolic pressure? Is his/her risk not increased? We believe this may be an example as easy to understand as the fact that body mass index is not yet included in many risk estimation scores. (3) Secondly, we must bear in mind that risk equations determine probability of experiencing a cardiovascular event in a population and not in a specific subject. Therefore, we can state that a certain probability will be fulfilled in a population of, for example, 1000 subjects, but we will most likely not be able to determine the exact probability of suffering a cardiovascular event in a specific subject. Further-","PeriodicalId":34966,"journal":{"name":"Revista Argentina de Cardiologia","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-04-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"82712895","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-02-23DOI: 10.7775/rac.es.v91.i1.20591
Joaquín Vázquez, F. Ferrando, Soledad Murguía, José Ichazo, Natalia Escobar, A. Cuesta, Álvaro Rivara, Diego Freire
Introducción: La terapia de resincronización cardíaca (TRC) se indica en pacientes que habitualmente presentan remodelado cardíaco generado por dilatación y disincronía contráctil. La TRC contribuye al remodelado reverso, relacionado con menormortalidad y hospitalizaciones por insuficiencia cardíaca (IC). Se han observado además mejoras en la conducción intraventricular, con reducción del tiempo de activación. La cuantificación del remodelado eléctrico reverso se ha subutilizado como parámetro de respuesta, con escasos reportes sobre su asociación con la respuesta clínica-estructural.Objetivo: Analizar el remodelado eléctrico reverso intraventricular como parámetro de respuesta a la TRC.Métodos: Se incluyeron pacientes con más de 6 meses de implante. Se obtuvo un ECG con estimulación desactivada (QRS intrínseco, QRSi, post TRC), y por ecocardiograma transtorácico se definió la fracción de eyección ventricular izquierda (FEVI), el diámetro de fin de diástole del ventrículo izquierdo (DFDVI) y la presencia de insuficiencia mitral. Se clasificó a los pacientes según la respuesta clínica-estructural. El remodelado eléctrico se caracterizó con la comparación de la duración del QRS pre y post TRC y la valoración de los cambios del QRS (ΔQRSi) entre grupos.Resultados: Se incluyeron 23 pacientes. Un 39% presentó disminución >10 mseg del QRSi. Observamos un ΔQRSi de -9,3 ± 20,7 mseg en respondedores, y 11,25 ± 18,9 mseg en no respondedores (p = 0,027), más acentuada en los hiper respondedores (ΔQRSi: -14,44 ± 17,40 mseg, p = 0,026). Las mujeres con QRS ≥150 mseg pre TRC exhibieron disminución significativa delQRSi (p = 0,0195). Conclusiones: El remodelado eléctrico reverso se comprobó en 39% de los pacientes que recibieron TRC. Observamos una relación significativa del ΔQRSi con la respuesta clínica-estructural, mayor en hiper respondedores. Mujeres con QRS ancho pre-TRC exhiben remodelado eléctrico reverso más acentuado. Este es un parámetro de fácil acceso e interpretación durante los controles ambulatorios.
{"title":"Remodelado eléctrico reverso en pacientes tratados con terapia de resincronización cardíaca","authors":"Joaquín Vázquez, F. Ferrando, Soledad Murguía, José Ichazo, Natalia Escobar, A. Cuesta, Álvaro Rivara, Diego Freire","doi":"10.7775/rac.es.v91.i1.20591","DOIUrl":"https://doi.org/10.7775/rac.es.v91.i1.20591","url":null,"abstract":"Introducción: La terapia de resincronización cardíaca (TRC) se indica en pacientes que habitualmente presentan remodelado cardíaco generado por dilatación y disincronía contráctil. La TRC contribuye al remodelado reverso, relacionado con menormortalidad y hospitalizaciones por insuficiencia cardíaca (IC). Se han observado además mejoras en la conducción intraventricular, con reducción del tiempo de activación. La cuantificación del remodelado eléctrico reverso se ha subutilizado como parámetro de respuesta, con escasos reportes sobre su asociación con la respuesta clínica-estructural.Objetivo: Analizar el remodelado eléctrico reverso intraventricular como parámetro de respuesta a la TRC.Métodos: Se incluyeron pacientes con más de 6 meses de implante. Se obtuvo un ECG con estimulación desactivada (QRS intrínseco, QRSi, post TRC), y por ecocardiograma transtorácico se definió la fracción de eyección ventricular izquierda (FEVI), el diámetro de fin de diástole del ventrículo izquierdo (DFDVI) y la presencia de insuficiencia mitral. Se clasificó a los pacientes según la respuesta clínica-estructural. El remodelado eléctrico se caracterizó con la comparación de la duración del QRS pre y post TRC y la valoración de los cambios del QRS (ΔQRSi) entre grupos.Resultados: Se incluyeron 23 pacientes. Un 39% presentó disminución >10 mseg del QRSi. Observamos un ΔQRSi de -9,3 ± 20,7 mseg en respondedores, y 11,25 ± 18,9 mseg en no respondedores (p = 0,027), más acentuada en los hiper respondedores (ΔQRSi: -14,44 ± 17,40 mseg, p = 0,026). Las mujeres con QRS ≥150 mseg pre TRC exhibieron disminución significativa delQRSi (p = 0,0195).\u0000Conclusiones: El remodelado eléctrico reverso se comprobó en 39% de los pacientes que recibieron TRC. Observamos una relación significativa del ΔQRSi con la respuesta clínica-estructural, mayor en hiper respondedores. Mujeres con QRS ancho pre-TRC exhiben remodelado eléctrico reverso más acentuado. Este es un parámetro de fácil acceso e interpretación durante los controles ambulatorios.","PeriodicalId":34966,"journal":{"name":"Revista Argentina de Cardiologia","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"48547147","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-02-23DOI: 10.7775/rac.es.v91.i1.20592
Piotr Hamala, Karina Wierzbowska-Drabik
Datos recientes muestran que el abuso crónico de alcohol puede conducir a disfunción cardiovascular, a partir de dosis de etanol tradicionalmente consideradas bajas, ya que la aparición de arritmias, incluyendo la fibrilación auricular, aumenta aún en consumidores de alcohol moderados.Los otros mecanismos comunes del impacto negativo del etanol están relacionados con el desarrollo de hipertensión y su consecuencia directa, la hipertrofia, fibrosis y disfunción diastólica.Debido a que la probabilidad de reversibilidad del remodelamiento cardíaco depende de un diagnóstico temprano de disfunción cardíaca, se debería recomendar la aplicación más amplia de métodos nuevos y más sensibles de evaluación de la función miocárdica, incluyendo el strain longitudinal ventricular izquierdo y derecho, así como de los protocolos adaptados a la ecocardiografía de estrés.
{"title":"Efecto del alcohol sobre el corazón y el sistema cardiovascular: hipertrofia, remodelamiento y disminución del strain. Información actual","authors":"Piotr Hamala, Karina Wierzbowska-Drabik","doi":"10.7775/rac.es.v91.i1.20592","DOIUrl":"https://doi.org/10.7775/rac.es.v91.i1.20592","url":null,"abstract":"Datos recientes muestran que el abuso crónico de alcohol puede conducir a disfunción cardiovascular, a partir de dosis de etanol tradicionalmente consideradas bajas, ya que la aparición de arritmias, incluyendo la fibrilación auricular, aumenta aún en consumidores de alcohol moderados.Los otros mecanismos comunes del impacto negativo del etanol están relacionados con el desarrollo de hipertensión y su consecuencia directa, la hipertrofia, fibrosis y disfunción diastólica.Debido a que la probabilidad de reversibilidad del remodelamiento cardíaco depende de un diagnóstico temprano de disfunción cardíaca, se debería recomendar la aplicación más amplia de métodos nuevos y más sensibles de evaluación de la función miocárdica, incluyendo el strain longitudinal ventricular izquierdo y derecho, así como de los protocolos adaptados a la ecocardiografía de estrés.","PeriodicalId":34966,"journal":{"name":"Revista Argentina de Cardiologia","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"43405274","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-02-23DOI: 10.7775/rac.es.v91.i1.20606
R. Marenchino, Edgar F. Montalvo, Juan C. Climente, Diego E. Pinto, Alejandra Ferro, María E. Gonzalez
{"title":"Autotrasplante cardíaco como estrategia de tratamiento de tumores malignos de corazón","authors":"R. Marenchino, Edgar F. Montalvo, Juan C. Climente, Diego E. Pinto, Alejandra Ferro, María E. Gonzalez","doi":"10.7775/rac.es.v91.i1.20606","DOIUrl":"https://doi.org/10.7775/rac.es.v91.i1.20606","url":null,"abstract":"","PeriodicalId":34966,"journal":{"name":"Revista Argentina de Cardiologia","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46801014","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-02-23DOI: 10.7775/rac.es.v91.i1.20598
Gisela Streitenberger, G. R. Reyes, M. P. Velazco, Viviana Pasquevich, Mariela De Santos, Marcos Granillo Fernández, Mauricio Potito, Pablo Kociubinski, J. Mariani
Introducción: Las miocardiopatías se definen como un rastorno del miocardio en el que el músculo cardíaco es estructural y funcionalmente anormal, en ausencia de enfermedad arterial coronaria, hipertensión arterial (HTA), enfermedad valvular y enfermedad cardíaca congénita. Estas enfermedades son relativamente frecuentes, y suponen una importante causa de morbimortalidad a nivel global. Aunque el estudio genético se recomienda para el cribado familiar, la falta de datos robustos sobre asociaciones genotipofenotipo específicas ha reducido su impacto en el manejo clínico.Objetivos: El objetivo de este estudio es analizar la frecuencia de mutaciones en una población de pacientes con miocardiopatía derivados a un centro de alta complejidad y el análisis de la correlación genotipo fenotipo en las mutaciones identificadas. Material y métodos: Se estudiaron en forma prospectiva 102 pacientes con sospecha de miocardiopatía hipertrófica (MCH) familiar, de los cuales 70 constituían casos índices, de una cohorte ambispectiva de pacientes con miocardiopatías controladas en un hospital público de alta complejidad de tercer nivel de atención de la provincia de Buenos Aires, desde enero 2012 al 30 agosto 2022.Resultados: Se comprobó que realizar estudio molecular guiado por el Score de Mayo permitió obtener un alto grado de probabilidad de detectar mutaciones. Se evidenció la importancia del estudio molecular debido a la existencia de solapamiento fenotípico y genotípico de las miocardiopatías. Conclusiones: El conocimiento de la variante genética causal actualmente no afecta el manejo clínico de la mayoría de los pacientes con MCH, pero es de ayuda ante un pequeño grupo de genes que tienen opciones de tratamiento.
{"title":"Estudio preliminar de correlación fenotipo-genotipo en miocardiopatías de pacientes derivados a un centro de alta complejidad del conurbano bonaerense","authors":"Gisela Streitenberger, G. R. Reyes, M. P. Velazco, Viviana Pasquevich, Mariela De Santos, Marcos Granillo Fernández, Mauricio Potito, Pablo Kociubinski, J. Mariani","doi":"10.7775/rac.es.v91.i1.20598","DOIUrl":"https://doi.org/10.7775/rac.es.v91.i1.20598","url":null,"abstract":"Introducción: Las miocardiopatías se definen como un rastorno del miocardio en el que el músculo cardíaco es estructural y funcionalmente anormal, en ausencia de enfermedad arterial coronaria, hipertensión arterial (HTA), enfermedad valvular y enfermedad cardíaca congénita. Estas enfermedades son relativamente frecuentes, y suponen una importante causa de morbimortalidad a nivel global. Aunque el estudio genético se recomienda para el cribado familiar, la falta de datos robustos sobre asociaciones genotipofenotipo específicas ha reducido su impacto en el manejo clínico.Objetivos: El objetivo de este estudio es analizar la frecuencia de mutaciones en una población de pacientes con miocardiopatía derivados a un centro de alta complejidad y el análisis de la correlación genotipo fenotipo en las mutaciones identificadas.\u0000Material y métodos: Se estudiaron en forma prospectiva 102 pacientes con sospecha de miocardiopatía hipertrófica (MCH) familiar, de los cuales 70 constituían casos índices, de una cohorte ambispectiva de pacientes con miocardiopatías controladas en un hospital público de alta complejidad de tercer nivel de atención de la provincia de Buenos Aires, desde enero 2012 al 30 agosto 2022.Resultados: Se comprobó que realizar estudio molecular guiado por el Score de Mayo permitió obtener un alto grado de probabilidad de detectar mutaciones. Se evidenció la importancia del estudio molecular debido a la existencia de solapamiento fenotípico y genotípico de las miocardiopatías.\u0000Conclusiones: El conocimiento de la variante genética causal actualmente no afecta el manejo clínico de la mayoría de los pacientes con MCH, pero es de ayuda ante un pequeño grupo de genes que tienen opciones de tratamiento.","PeriodicalId":34966,"journal":{"name":"Revista Argentina de Cardiologia","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"46511966","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Pub Date : 2023-02-23DOI: 10.7775/rac.es.v91.i1.20601
Claudio R. Majul
{"title":"Discurso del acto académico 2023","authors":"Claudio R. Majul","doi":"10.7775/rac.es.v91.i1.20601","DOIUrl":"https://doi.org/10.7775/rac.es.v91.i1.20601","url":null,"abstract":"","PeriodicalId":34966,"journal":{"name":"Revista Argentina de Cardiologia","volume":" ","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-02-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"45720178","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
京公网安备 11010802042870号
京ICP备2023020795号-1
扫码关注我们
求助内容：
应助结果提醒方式：