Myocardial Extracellular Volume Is Not Associated With Malignant Ventricular Arrhythmias in High-risk Hypertrophic Cardiomyopathy.

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.

Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.

INTRODUCTION AND AIMS: Mutations in the troponin T gene (TTNT2) have been associated in small studies with the development of hypertrophic cardiomyopathy characterized by a high risk of sudden death and mild hypertrophy. We describe the clinical course of patients carrying mutations in this gene. METHODS: We analyzed the clinical characteristics and prognosis of patients with mutations in the TNNT2 gene who were seen in an inherited cardiac disease unit. RESULTS: Of 180 families with genetically studied cardiomyopathies, 21 families (11.7%) were identified as having mutations in TNNT2: 10 families had Arg92Gln, 5 had Arg286His, 3 had Arg278Cys, 1 had Arg92Trp, 1 had Arg94His, and 1 had Ile221Thr. Thirty-three additional genetic carriers were identified through family assessment. The study included 54 genetic carriers: 56% were male, and the mean average age was 41 ± 17 years. There were 33 cases of hypertrophic cardiomyopathy, 9 of dilated cardiomyopathy, and 1 of noncompaction cardiomyopathy, and maximal myocardial thickness was 18.5 ± 6mm. Ventricular dysfunction was present in 30% of individuals and a history of sudden death in 62%. During follow-up, 4 patients died and 14 (33%) received a defibrillator (8 probands, 6 relatives). Mean survival was 54 years. Carriers of Arg92Gln had early disease development, high penetrance, a high risk of sudden death, a high rate of defibrillator implantation, and a high frequency of mixed phenotype. CONCLUSIONS: Mutations in the TNNT2 gene were more common in this series than in previous studies. The clinical and prognostic profiles depended on the mutation present. Carriers of the Arg92Gln mutation developed hypertrophic or dilated cardiomyopathy and had a significantly worse prognosis than those with other mutations in TNNT2 or other sarcomeric genes.

[Adherence to a mediterranean diet and sport performance in a elite female athletes futsal population]. / ADHESIÓN A LA DIETA MEDITERRÁNEA Y RENDIMIENTO DEPORTIVO EN UN GRUPO DE MUJERES DEPORTISTAS DE ÉLITE DE FÚTBOL SALA.

INTRODUCTION: Low energy intake may lead to the loss of muscle mass, menstrual dysfunction, increased risk of fatigue, injures and the need for prolonged recovery process. OBJECTIVES: 1) To analyse the adherence to the Mediterranean diet of a elite female athletes futsal population, 2) To analyse the relationship between the Dietary Mediterranean index, body composition and sport performance, and 3) To analyse if the differences in the index of adherence to the Mediterranean diet generates test differences in sports performance and body composition. METHODS: The adherence to a Mediterranean Diet, body composition test, isokinetic test, vertical jump test (CMJ and SJ), kicking ball, speed test and test Repeated Sprint Ability (RSA) was measured. RESULTS: we found that 7 out of 12 players (58.33%) showed a low index and 5 of the 12 players (41.67%) showed a means index. We found that 7 out of 12 players (58.33%) showed a low index and 5 of the 12 players (41.67%) below the optimum index. Moreover, this adhesion index did not correlate with the values of the body composition or athletic performance test. No significant differences between the players that scored below the optimal index with those with a low level of adhesion were observed. However, mass fat (%) correlated to the ability to repeat sprint. CONCLUSIONS: Low levels of adherence to the Mediterranean diet was observed in futsal players, the values shown in the KIDMED questionnaire did not correlate with the performance of the players nor body composition.

Introducción: Baja ingesta de energía puede dar lugar a la pérdida de masa muscular, disfunciones menstruales, un aumento del riesgo de la fatiga, lesión así como la necesidad de un proceso prolongado de recuperación. Objetivos: 1) Analizar el nivel de adherencia al Patrón de Dieta Mediterráneo en un grupo de mujeres deportistas profesionales de fútbol sala, 2) analizar el grado de relación entre el Patrón Dietético Mediterráneo, la composición corporal y el rendimiento deportivo y, 3) analizar si el actual grado de adherencia a la dieta mediterránea establece diferencias en los test de rendimiento deportivo y sobre la composición corporal. Métodos: Se valoró el PDM, test de composición corporal, test isocinético, test salto vertical (CMJ y SJ), golpeo de balón, test de velocidad y test Repeated Sprint Ability (RSA). Resultados: se observó que 7 de los 12 jugadoras (58,33%) mostró un patrón bajo y 5 de las 12 jugadoras (41,67%) un patrón medio. Por otro lado, estos patrones de adherencia no correlacionoraon con los valores de composición corporal ni con los test de rendimiento deportivo. No se observaron diferencias significativas entre las jugadoras que tenían un grado medio de adherencia con las que tenían un patrón bajo de adhesión. Sin embargo, la cantidad de grasa total (%) parece tener un efecto determinante en la capacidad de repetir sprint. Conclusión: Se observan bajos niveles de adhesión a la dieta mediterránea, los valores mostrados en el cuestionario KIDMED no se han relacionado con el rendimiento de las deportistas ni con el estado de la composición corporal.

Differences in regional systolic and diastolic function by Doppler tissue imaging in patients with hypertrophic cardiomyopathy and hypertrophy caused by hypertension.

OBJECTIVE: Doppler tissue (DT) velocity abnormalities have been described in patients with pathologic left ventricular hypertrophy (LVH). Impaired myocardial function has been suggested as a primary disorder in hypertrophic cardiomyopathy (HCM) and differences in DT parameters have been reported to be distinguishable from other LVH causes. We evaluated DT differences for patients with LVH caused by hypertension and patients with HCM, assessing regional systolic and diastolic function. METHODS: A total of 62 participants were studied: 21 with HCM; 22 with LVH secondary to hypertension; and 19 control subjects. DT was used to record mitral annulobasal segment motion in the longitudinal axis. Systolic and diastolic velocities were measured at lateral and septal sites, and well-known ratios were obtained for diastolic assessment. A new global function index (GFI) that evaluates both systole and diastole was also calculated (GFI = [Emi/E(DT)]/S(DT) [s x cm(-1)], where mi is mitral inflow, E is E wave, and S is systolic wave). RESULTS: Comparison showed significant differences in all parameters evaluated at the septal-basal segment and a GFI value of 1.77 showed 85% sensitivity and 75% specificity for detecting HCM when interventricular septum thickness was increased. CONCLUSIONS: In the presence of unexplained LVH, markedly decreased DT velocities at basal septum efficiently detect myocardial dysfunction at this segment, and a calculated GFI > 1.77 strongly supports the diagnosis of HCM.

Daño cardiaco en una cohorte de pacientes con amiloidosis por transtiretina por la mutación Val30Met / Cardiac involvement in a patient cohort with Val30Met mutation transthyretin amyloidosis

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El volumen extracelular no se asocia a arritmias malignas en miocardiopatía hipertrófica de alto riesgo / Myocardial extracellular volume is not associated with malignant ventricular arrhythmias in high-risk hypertrophic cardiomyopathy

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)

Perfil clínico y pronóstico de las miocardiopatías causadas por mutaciones en el gen de la troponina T / Clinical and prognostic profiles of cardiomyopathies caused by mutations in the troponin T gene

Introducción y objetivos: Las mutaciones en el gen de la troponina T (TNNT2) se han asociado en pequeños estudios al desarrollo de miocardiopatía hipertrófica caracterizada por alto riesgo de muerte súbita e hipertrofia leve. Se describe el curso clínico de los pacientes portadores de mutaciones en este gen. Métodos: Se analizaron las características clínicas y el pronóstico de los sujetos con mutaciones en el gen TNNT2 atendidos en una unidad de cardiopatías familiares. Resultados: A partir de 180 familias con miocardiopatías estudiadas genéticamente, se identificó a 21 (11,7%) con mutaciones en TNNT2: 10 familias Arg92Gln, 5 Arg286His, 3 Arg278Cys, 1 Arg92Trp, 1 Arg94His y 1 Ile221Thr. A través de la evaluación familiar se identificó a 33 portadores genéticos adicionales. El estudio incluyó a 54 portadores genéticos: el 56% varones con una media de edad de 41 ± 17 años; 33 miocardiopatías hipertróficas, 9 dilatadas y 1 no compactada, con grosor máximo de 18,5 ± 6 mm; con disfunción ventricular el 30% y antecedentes de muerte súbita el 62%. En el seguimiento 4 fallecieron y 14 (33%) recibieron un desfibrilador (8 probandos, 6 familiares). La supervivencia media fue de 54 años. Los portadores de Arg92Gln tuvieron desarrollo precoz, alta penetrancia, alto riesgo de muerte súbita, alta tasa de implante de desfibrilador y alta frecuencia de fenotipo mixto. Conclusiones: Las mutaciones en el gen TNNT2 fueron más frecuentes en esta serie. Su perfil clínico y pronóstico depende de la mutación hallada. Los portadores de la mutación Arg92Gln desarrollaron miocardiopatía hipertrófica o dilatada y tuvieron un pronóstico significativamente peor que con otras mutaciones en TNNT2 u otros genes sarcoméricos (AU)

Introduction and aims: Mutations in the troponin T gene (TTNT2) have been associated in small studies with the development of hypertrophic cardiomyopathy characterized by a high risk of sudden death and mild hypertrophy. We describe the clinical course of patients carrying mutations in this gene. Methods: We analyzed the clinical characteristics and prognosis of patients with mutations in theTNNT2 gene who were seen in an inherited cardiac disease unit. Results: Of 180 families with genetically studied cardiomyopathies, 21 families (11.7%) were identified as having mutations in TNNT2: 10 families had Arg92Gln, 5 had Arg286His, 3 had Arg278Cys, 1 had Arg92Trp, 1 had Arg94His, and 1 had Ile221Thr. Thirty-three additional genetic carriers were identified through family assessment. The study included 54 genetic carriers: 56% were male, and the mean average age was 41 ± 17 years. There were 33 cases of hypertrophic cardiomyopathy, 9 of dilated cardiomyopathy, and 1 of noncompaction cardiomyopathy, and maximal myocardial thickness was 18.5 ± 6 mm. Ventricular dysfunction was present in 30% of individuals and a history of sudden death in 62%. During follow-up, 4 patients died and 14 (33%) received a defibrillator (8 probands, 6 relatives). Mean survival was 54 years. Carriers of Arg92Gln had early disease development, high penetrance, a high risk of sudden death, a high rate of defibrillator implantation, and a high frequency of mixed phenotype. Conclusions: Mutations in the TNNT2 gene were more common in this series than in previous studies. The clinical and prognostic profiles depended on the mutation present. Carriers of the Arg92Gln mutation developed hypertrophic or dilated cardiomyopathy and had a significantly worse prognosis than those with other mutations in TNNT2 or other sarcomeric genes (AU)

Adhesión a la dieta mediterránea y rendimiento deportivo en un grupo de mujeres deportistas de élite de fútbol sala / Adherence to a Mediterranean diet and sport performance in a elite female athletes futsal population

Introducción: Baja ingesta de energía puede dar lugar a la pérdida de masa muscular, disfunciones menstruales, un aumento del riesgo de la fatiga, lesión así como la necesidad de un proceso prolongado de recuperación. Objetivos: 1) Analizar el nivel de adherencia al Patrón de Dieta Mediterráneo en un grupo de mujeres deportistas profesionales de fútbol sala, 2) analizar el grado de relación entre el Patrón Dietético Mediterráneo, la composición corporal y el rendimiento deportivo y, 3) analizar si el actual grado de adherencia a la dieta mediterránea establece diferencias en los test de rendimiento deportivo y sobre la composición corporal. Métodos: Se valoró el PDM, test de composición corporal, test isocinético, test salto vertical (CMJ y SJ), golpeo de balón, test de velocidad y test Repeated Sprint Ability (RSA). Resultados: se observó que 7 de los 12 jugadoras (58,33%) mostró un patrón bajo y 5 de las 12 jugadoras (41,67%) un patrón medio. Por otro lado, estos patrones de adherencia no correlacionaron con los valores de composición corporal ni con los test de rendimiento deportivo. No se observaron diferencias significativas entre las jugadoras que tenían un grado medio de adherencia con las que tenían un patrón bajo de adhesión. Sin embargo, la cantidad de grasa total (%) parece tener un efecto determinante en la capacidad de repetir sprint. Conclusión: Se observan bajos niveles de adhesión a la dieta mediterránea, los valores mostrados en el cuestionario KIDMED no se han relacionado con el rendimiento de las deportistas ni con el estado de la composición corporal (AU)

Introduction: Low energy intake may lead to the loss of muscle mass, menstrual dysfunction, increased risk of fatigue, injures and the need for prolonged recovery process. Objectives: 1) To analyse the adherence to the Mediterranean diet of a elite female athletes futsal population, 2) To analyse the relationship between the Dietary Mediterranean index, body composition and sport performance, and 3) To analyse if the differences in the index of adherence to the Mediterranean diet generates test differences in sports performance and body composition. Methods: The adherence to a Mediterranean Diet, body composition test, isokinetic test, vertical jump test (CMJ and SJ), kicking ball, speed test and test Repeated Sprint Ability (RSA) was measured. Results: we found that 7 out of 12 players (58.33%) showed a low index and 5 of the 12 players (41.67%) showed a means index. We found that 7 out of 12 players (58.33%) showed a low index and 5 of the 12 players (41.67%) below the optimum index. Moreover, this adhesion index did not correlate with the values of the body composition or athletic performance test. No significant differences between the players that scored below the optimal index with those with a low level of adhesion were observed. However, mass fat (%) correlated to the ability to repeat sprint. Conclusions: Low levels of adherence to the Mediterranean diet was observed in futsal players, the values shown in the KIDMED questionnaire did not correlate with the performance of the players nor body composition (AU)