Respuesta adaptativa cardiovascular al entrenamiento en deportistas de élite. comparación entre deportistas de resistencia y no resistencia / Cardiovascular adaptive response to training in elite ath letes. Comparison between endurance and non-endurance athletes

Resumen Introducción : Las diferentes modificaciones estructu rales que han sido descritas en el corazón del deportista de alto rendimiento dependen de factores como la edad, el género, el tipo de deporte, la intensidad y el tiempo dedicados al entrenamiento. Objetivos : Evaluación de atletas de élite por medio de la ecocardiografía para la descripción de la estructura y la función cardíacas, y la comparación entre deportistas de resistencia cardiorrespiratoria y el resto de los deportistas. Métodos : Realizamos el examen ecocardiográfico en 224 deportistas de élite, 96 mujeres y 128 varones con edades de 15 a 38 años (21.7±5.3 años) y se dividieron en 2 grupos: "Grupo de Resistencia" (resistencia cardiorres piratoria) y "Grupo de no Resistencia" el cual incluyó al resto de los deportes. Se realizó la comparación univaria da de 14 variables ecocardiográficas entre los dos grupos. Resultados : En los hombres se identificaron valores estadísticamente significativos más altos en el grupo de resistencia para septum interventricular, pared posterior, grosor parietal relativo, índice de masa del ventrículo iz quierdo y aurícula izquierda. En las mujeres, el grupo de resistencia tuvo valores de frecuencia cardíaca más bajos con diámetro diastólico e índice de masa del ventrículo izquierdo, significativamente mayores. Conclusiones : La mayoría de las variables ecocar diográficas mostró valores mayores en los atletas de resistencia. En los hombres del Grupo de Resistencia, predominó la hipertrofia excéntrica con mayor incre mento en el grosor parietal y del diámetro de la aurícula izquierda, mientras que en las mujeres las variables indi caron hipertrofia excéntrica a expensas de un aumento del diámetro del ventrículo izquierdo, sin incremento del grosor parietal.

Abstract Introduction : The different structural modifications that have been described in the heart of the high-per formance athlete depend on factors such as age, gender, type of sport, and the intensity and time dedicated to training. Objectives : Evaluation of elite athletes through echo cardiography for the description of cardiac structure and function, and the comparison between athletes with cardiorespiratory endurance and the rest of the athletes. Methods : We performed the echocardiographic ex amination in 224 elite athletes, 96 women and 128 men aged 15 to 38 years (21.7±5.3 years) and they were di vided into 2 groups: "Endurance Group" (cardiorespira tory endurance) and "Non-Endurance Group" which included the rest of the sports. Univariate comparison between the two groups was performed by measuring 14 echocardiographic variables. Results : In men, statistically significant higher values were identified in the endurance group for interventricu lar septum, left ventricular posterior wall, relative wall thickness (RWT), left ventricular mass index and left atrial dimension. In women, the endurance group had signifi cantly lower heart rate values, and significantly higher left ventricular diastolic dimension with normal RWT. Conclusions : Most of the echocardiographic vari ables showed higher sample means in the endurance athletes. In the subgroup of men from the Endurance Group, eccentric hypertrophy prevailed with a greater increase in wall thickness, as well as in the diameter of the left atrium, while in women the variables indicated eccentric hypertrophy at the expense of an increase in left ventricle diameter, without increased wall thickness.

Agalsidase alfa long-term effect on left ventricular hypertrophy in Fabry disease / Efecto a largo plazo de la agalsidasa alfa sobre la hi pertrofia ventricular izquierda en la enfermedad de Fabry

Abstract Introduction : Fabry disease (FD) is an X-linked ly sosomal storage disorder affecting glycosphingolipid metabolism. Most FD patients have cardiac involvement, mainly manifested as left ventricular hypertrophy (LVH), leading to early death due to complications (arrhyth mias, valvular disease, vascular involvement). Early initiation of enzyme replacement therapy (ERT) before fibrosis development has been associated with better cardiac outcomes in terms of left ventricular mass index (LVMI) and functional parameters. Methods : A retrospective observational study was conducted in patients with FD treated with agalsidase alfa for at least 2 years. The primary objectives were: [a] to assess the annual rate of change in LVMI; [b] to define the overall incidence of stability, regression or progression of LVMI. Results : Forty-nine patients were included in the final analysis, with a median follow-up of 7 years. The overall change in LVMI was 0.38 g/m2.73/year, without significant influence of baseline LVH, gender, age at ERT initiation, LV ejection fraction, body mass index, renal disease, and classical cardiovascular risk factors. Long-term ERT with agalsidase alfa was associated with stabilization of LVMI in 98% of patients with FD and was independent of the same covariables. Conclusion : Our results are in line with previous literature of comparable FD populations and probably represent the first study of its kind in Argentina. We here highlight the importance of cardiac morphomet ric stability as a positive outcome of ERT.

Resumen Introducción : La enfermedad de Fabry (EF) es una enfermedad de almacenamiento lisosomal ligada al cromosoma X que afecta el metabolismo de glicoes fingolípidos. La mayoría de pacientes EF tienen afec tación cardíaca, manifestada principalmente como hipertrofia ventricular izquierda (HVI), que conduce a muerte prematura secundaria a complicaciones (arritmias, valvulopatías, afectación vascular). El trata miento de reemplazo enzimático (TRE) precoz, iniciado antes del desarrollo de la fibrosis, se relaciona con mejores resultados cardíacos en términos del índice de masa ventricular izquierda (IMVI) y parámetros funcionales. Métodos : Se realizó un estudio retrospectivo obser vacional en que se incluyeron pacientes con EF tratados con agalsidasa alfa por al menos 2 años. Los objetivos primarios fueron: [a] evaluar el cambio anual del IMVI; [b] definir la incidencia global de estabilidad, regresión o progresión del IMVI. Resultados : Se incluyeron 49 pacientes, con segui miento (mediana) de 7 años. El cambio global en el IMVI fue 0.38 g/m2.73/año, sin influencia significativa de HVI basal, sexo, edad de inicio de TRE, fracción de eyección del VI, índice de masa corporal, insuficiencia renal y factores de riesgo cardiovascular clásicos. La TRE a largo plazo con agalsidasa alfa se relacionó con la estabilización del IMVI en el 98% de los pacientes con EF, independientemente de las mismas covariables. Conclusión : Nuestros resultados están en línea con la bibliografía previa de poblaciones comparables y, pro bablemente, representan el primer estudio de este tipo en Argentina. Se destaca la importancia de la estabilidad morfométrica cardíaca como resultado positivo de la TRE.

Left ventricular hypertrophy: hypertensive or hypertrophic cardiomyopathy? What a dilemma! A case report / Hipertrofia ventricular izquierda: ¿cardiopatía hipertensiva o miocardiopatía hipertrófica? ¡Vaya dilema! Reporte de caso

Abstract In the presence of the left ventricle hypertrophy (LVH), the differential diagnosis with hypertrophic cardiomyopathy (HCM) or some phenocopy must be always considered, which can be easily suspected when the hypertrophy is markedly asymmetric. However, when the hypertrophy is homogeneous, especially if the patient has concomitant hypertension, it may be a challenge to distinguish between hypertensive and HCM, although some clinical features may help us to suspect it. In addition, patients with HCM may present with exertional angina due to microcirculation involvement in the setting of the hypertrophy itself or dynamic obstruction in the left ventricular outflow tract, but in some cases, the presence of concomitant coronary artery disease must be suspected as the cause of angina, especially if the patient has an intermediate or high-risk probability of having ischemic heart disease. We present the case of a 46-year-old Afro-American man with poorly controlled hypertension who was found to have severe LVH, and who presented with symptoms of exertional angina during follow-up. We will review the clinical features that can help us in the differential diagnosis in this context.

Resumen Ante la presencia de hipertrofia del ventrículo izquierdo (HVI), siempre se debe considerar el diagnóstico diferencial con la miocardiopatía hipertrófica (MCH) o alguna fenocopia, que puede sospecharse fácilmente cuando la hipertrofia es marcadamente asimétrica. Además, los pacientes con MCH pueden presentar angina de esfuerzo debido a la afectación de la microcirculación en el contexto de la propia hipertrofia o si ésta condiciona obstrucción dinámica al tracto de salida del ventrículo izquierdo, pero en algunos casos debe sospecharse la presencia de enfermedad coronaria concomitante como causa de la angina, especialmente si el paciente tiene una probabilidad de riesgo intermedio o alto de padecer cardiopatía isquémica. Presentamos el caso de un varón de 46 años de afroamericana con hipertensión arterial mal controlada a quien se le detectó una HVI severa, y que durante el seguimiento presentó síntomas de angina de esfuerzo. Revisaremos las características clínicas que nos pueden ayudar en el diagnóstico diferencial en este contexto.

Diferenças entre Duas Condições Cardíacas Hipertróficas Distintas: Doença de Fabry Versus Cardiomiopatia Hipertrófica / Differences Between Two Distinct Hypertrophic Cardiac Conditions: Fabry Disease versus Hypertrophic Cardiomyopathy

Resumo Fundamento A cardiomiopatia hipertrófica (CMH) e a doença de Fabry (DF) são doenças herdadas geneticamente com características fenotípicas de hipertrofia ventricular esquerda (HVE) que causam resultados cardíacos adversos. Objetivos Investigar as diferenças demográficas, clínicas, bioquímicas, eletrocardiográficas (ECG) e ecocardiográficas (ECO) entre CMH e DF. Métodos 60 pacientes com CMH e 40 pacientes com DF foram analisados retrospectivamente como uma subanálise do "estudo LVH-TR" após exclusão de pacientes com fibrilação atrial, ritmo de estimulação, bloqueios de ramo e bloqueios atrioventriculares (AV) de segundo e terceiro graus. O nível de significância foi aceito como <0,05. Resultados O sexo masculino (p=0,048) e a creatinina (p=0,010) são significativamente maiores a favor da DF; entretanto, infradesnivelamento do segmento ST (p=0,028), duração do QT (p=0,041), espessura do septo interventricular (SIVd) (p=0,003), espessura da parede posterior (PWd) (p=0,009), insuficiência mitral moderada a grave (IM) (p=0,013) e o índice de massa ventricular esquerda (IMVE) (p=0,041) são significativamente maiores a favor da CMH nas análises univariadas. Na análise multivariada, a significância estatística apenas permanece na creatinina (p=0,018) e na duração do intervalo QT (0,045). A DF foi positivamente correlacionada com a creatinina (rho=0,287, p=0,004) e a CMH foi positivamente correlacionada com o PWd (rho=0,306, p=0,002), IVSd (rho=0,395, p<0,001), IM moderada-grave (rho= 0,276, p<0,005), IMVE (rho=0,300, p=0,002), espessura relativa da parede (ERP) (rho=0,271, p=0,006), duração do QT (rho=0,213, p=0,034) e depressão do segmento ST (rho =0,222, p=0,026). Conclusão Características bioquímicas, ECG e ECO específicas podem auxiliar na diferenciação e no diagnóstico precoce da CMH e da DF.

Abstract Background Hypertrophic cardiomyopathy (HCM) and Fabry disease (FD) are genetically inherited diseases with left ventricular hypertrophy (LVH) phenotype characteristics that cause adverse cardiac outcomes. Objectives To investigate the demographic, clinical, biochemical, electrocardiographic (ECG), and echocardiographic (ECHO) differences between HCM and FD. Methods 60 HCM and 40 FD patients were analyzed retrospectively as a subanalysis of the 'LVH-TR study' after excluding patients with atrial fibrillation, pace rhythm, bundle branch blocks, and second and third-degree atrioventricular (AV) blocks. The significance level was accepted as <0.05. Results Male gender (p=0.048) and creatinine (p=0.010) are significantly higher in favor of FD; however, ST depression (p=0.028), QT duration (p=0.041), interventricular septum thickness (IVSd) (p=0.003), posterior wall thickness (PWd) (p=0.009), moderate-severe mitral regurgitation (MR) (p=0.013), and LV mass index (LVMI) (p=0.041) are significantly higher in favor of HCM in the univariate analyses. In multivariate analysis, statistical significance only continues in creatinine (p=0.018) and QT duration (0.045). FD was positively correlated with creatinine (rho=0.287, p=0.004) and HCM was positively correlated with PWd (rho=0.306, p=0.002), IVSd (rho=0.395, p<0.001), moderate-severe MR (rho=0.276, p<0.005), LVMI (rho=0.300, p=0.002), relative wall thickness (RWT) (rho=0.271, p=0.006), QT duration (rho=0.213, p=0.034) and ST depression (rho=0.222, p=0.026). Conclusion Specific biochemical, ECG, and ECHO characteristics can aid in the differentiation and early diagnosis of HCM and FD.

Valor del electrocardiograma en el diagnóstico de la hipertrofia ventricular izquierda en la hipertensión arterial

Introducción: la hipertrofia ventricular izquierda es un factor de riesgo independiente de enfermedad cardiovascular. Existen diversos criterios electrocardiográficos para el diagnóstico, con distintas sensibilidades y especificidades. Objetivo: determinar el valor diagnóstico de los criterios electrocardiográficos de hipertrofia del ventrículo izquierdo en comparación a la ecocardiografía transtorácica en personas adultas con hipertensión arterial. Material y método: diseño observacional, descriptivo, retrospectivo de corte transversal, tipo prueba diagnóstica, que incluyó a pacientes adultos con diagnóstico de hipertensión arterial internados en las salas de Clínica Médica del Hospital de Clínicas, Paraguay, desde agosto del 2022 a agosto del 2023. Se determinaron las variables demográficas, criterios electrocardiográficos (Sokolov-Lyon, Cornell, Lewis, Peguero Lo Presti) y ecocardiográficos de hipertrofia ventricular izquierda. Resultados: se evaluaron 517 electrocardiogramas y ecocardiografías de pacientes hipertensos. Según criterio de Sokolov-Lyon la sensibilidad fue 16% y la especificidad 70% para el diagnóstico de la hipertrofia ventricular izquierda; por criterios de Cornell la sensibilidad fue 43% y especificidad 87 %; por criterios de Lewis la sensibilidad fue 26% y especificidad 76% y por criterios de Peguero Lo Presti la sensibilidad fue 63% y la especificidad 87%. Conclusión: el criterio por electrocardiograma de hipertrofia ventricular izquierda con mayor sensibilidad fue de Peguero Lo Presti y los de mayor especificidad fueron los de Peguero Lo Presti y Cornell.

Introduction: Left ventricular hypertrophy is an independent risk factor for cardiovascular disease. There are various electrocardiographic criteria for diagnosis, with different sensitivities and specificities. Objective: To determine the diagnostic value of electrocardiographic criteria for left ventricular hypertrophy in comparison to transthoracic echocardiography in adults with arterial hypertension. Material and method: Observational, descriptive, retrospective cross-sectional design, diagnostic test type, which included adult patients with a diagnosis of arterial hypertension admitted to the Medical Clinic rooms of the Hospital de Clínicas, Paraguay, from August 2022 to August 2023. Demographic variables, electrocardiographic criteria (Sokolow-Lyon, Cornell, Lewis, Peguero Lo Presti), and echocardiographic criteria for left ventricular hypertrophy were determined. Results: Five hundred seventeen electrocardiograms and echocardiograms of hypertensive patients were evaluated. According to the Sokolow-Lyon criteria, the sensitivity was 16% and the specificity was 70% for the diagnosis of left ventricular hypertrophy; by Cornell criteria, the sensitivity was 43% and specificity 87%; by Lewis criteria, the sensitivity was 26% and specificity 76% and by Peguero Lo Presti criteria. the sensitivity was 63% and the specificity 87%. Conclusion: The electrocardiogram criterion of left ventricular hypertrophy with the greatest sensitivity was that of Peguero Lo Presti and those with the greatest specificity were those of Peguero Lo Presti and Cornell.

Miocardiopatía Hipertrófica en ausencia de criterios de hipertrofia. Serie de casos / Hypertrophic cardiomyopathy in the absence of hypertrophy criteria. Case series

La miocardiopatía hipertrófica (MCH) es la miocardiopatía hereditaria más frecuente, su principal expresión fenotípica consiste en hipertrofia ventricular izquierda (HVI) en ausencia de condiciones de carga que la justifiquen. Cuando existe una variante genética patogénica se denomina MCH sarcomérica. Los criterios diagnósticos más aceptados son HVI ≥ 15 mm en cualquier segmento o ≥ 13 en ciertas condiciones, criterios que tienen tres inconvenientes: 1) La HCM es una patología donde la HVI es evolutiva, existiendo otros elementos más precoces, pero menos precisos, como criptas, bandas musculares y alteraciones de la válvula mitral y músculos papilares; 2) Pacientes de baja estatura pueden no alcanzar estos umbrales; 3) La MCH apical no queda siempre bien representada usando estos grosores, requiriendo indexar por tamaño del paciente y/o considerar la HVI relativa (relación grosor apical / basal que no debe superar 1). Presentamos una serie de casos con genotipo confirmado para MCH que no cumplen los criterios de HVI aceptados para MCH y donde se debe individualizar el diagnóstico considerando los tres elementos señalados.

Hypertrophic cardiomyopathy (HCM) is the most common inherited cardiac condition; its phenotypic expression consists of ventricular hypertrophy (LVH) unrelated to loading conditions. In patients with a genetic pathogenic variant, the condition is termed sarcomeric HCM. Current diagnostic criteria are based on absolute left ventricular thickness, requiring ≥15 mm in any segment or ≥13 mm in particular conditions. These criteria have three pitfalls: 1) HCM is an evolving disease where LVH occurs gradually, with other early -but less precisephenotypic expressions such as myocardial crypts, muscular bands, or mitral and papillary muscle alterations; 2) Patients with short stature tend to have less LVH and do not reach the proposed thickness threshold. 3) Apical HCM is not correctly addressed in this cut-off as the heart tapers from base to apex, warranting indexing wall thickness to body size and using relative LVH in the apex (ratio from apex/base, abnormal,>1). This small case series includes three patients with a pathogenic genetic variant for HCM that doesn't satisfy the current criteria of LVH. For its precise assessment, the aforementioned points must be considered.

Enzima convertidora de angiotensina homóloga (ECA2) y actividad de ROCK en la falla cardíaca experimental / ACE 2 and ROCK activity in experimental congestive heart failure

Antecedentes: La ECA2 ha mostrado ser un regulador esencial de la funcionalidad cardíaca. En un modelo experimental de insuficiencia cardíaca (IC) con Fier, modelo de coartación de aorta (COA), se encontró activación de la vía Rho-kinasa. La inhibición de esta vía con fasudil no mejoró el remodelado cardíaco ni la disfunción sistólica. Se desconoce en este modelo, si el deterioro de la función cardíaca y activación de la vía rho-kinasa se asocia con una disminución de la ECA2 cardíaca y si la inhibición de Rho-kinasa tiene un efecto sobre la expresión de ECA2. Objetivo: Nuestro objetivo es determinar si en la falla cardaca experimental por coartación aórtica, los niveles proteicos de ECA2 en el miocardio se asocian a disfunción sistólica y cual es su interacción con la actividad de ROCK en el miocardio. Métodos: Ratones C57BL6J machos de 7-8 semanas se randomizaron en 3 grupos experimentales. Grupo COA por anudación de la aorta + vehículo; Grupo COA + Fasudil (100 mg/Kg día) por bomba osmótica desde la semana 5 post-cirugía; y grupo control o Sham. Se determinaron las dimensiones y función cardíaca por ecocardiografía. Posterior a la eutanasia, se determinaron los niveles de ECA2 del VI por Western-blot y actividad de la Rho-kinasa Resultados: En los grupos COA+vehículo y COA-FAS hubo deterioro de la función cardíaca, reflejada por la reducción de la FE (47,9 ± 1,53 y 45,5 ± 2,10, p < 0,05, respectivamente) versus SHAM (68,6 ± 1,19). Además, aumentaron las dimensiones cardíacas y hubo desarrollo de hipertrofia (0,53 ± 0,02 / 0,53 ± 0,01, p < 0,05) medida por aumento de la masa cardíaca relativa respecto del grupo SHAM (0,40 ± 0,01). En los grupos COA+vehículo y COA-FAS se encontró una disminución significativa del 35% en la expresión de ECA2 cardíaca respecto al grupo control. Conclusiones: La disfunción sistólica por coartación aórtica se asocia con aumento de la actividad de Rho-kinasa y significativa disminución de la expresión de ECA2. La inhibición de Rho-kinasa no mejoró el remodelado cardíaco, la disfunción sistólica y tampoco modificó los niveles de ECA2 cardíaca.

Background: ACE2 has been described as an essential regulator of cardiac function. In an experimental model of heart failure (HF) and heart failure reduced ejection fraction (HFrEF), the aortic coarctation (COA) model, activation of the Rho-kinase pathway of cardiac remodeling was found. Inhibition of this pathway did not improve cardiac remodeling or systolic ventricular dysfunction. It is unknown in this model whether the impairment of cardiac function and activation of the rho-kinase pathway is associated with a decrease in ACE2 and whether rho-kinase inhibition has an effect on ACE2 expression. Objective: To determine if in experimental heart failure due to aortic coarctation, ACE2 protein levels in the myocardium are associated with systolic dysfunction and what is its interaction with ROCK activity in the myocardium. Methods: Male C57BL6J mice aged 7-8 weeks were divided into 3 groups and anesthetized: One group underwent COA+ vehicle; A second group COA + Fasudil (100 mg/Kg/d) by osmotic pump from week 5 post-surgery and; the third group, control(SHAM). Echocardiograms were performed to determine cardiac dimensions and systolic function. Rats were then euthanized. Ventricular expression of ACE2, activity of the Rho-kinase pathway by MYPT-1 phosphorylation, relative cardiac mass, area and perimeter of cardiomyocytes were determined by Western blot. Results: In both COA+vehicle and COA+FAS groups there was deterioration of cardiac function, reflected in the reduction of EF (47.9 ± 1.53 and 45.5 ± 2.10, p < 0.05, respectively) versus the SHAM group (68.6 ± 1.19). In addition, cardiac dimensions and hypertrophy increased (0.53 ± 0.02 / 0.53 ± 0.01, p < 0.05) due to increased relative cardiac mass compared to the SHAM group (0.40 ± 0.01). In the COA+vehicle and COA+FAS groups a significant decrease of 35% in cardiac ACE2 expression was found compared to the control group. Conclusions: Systolic dysfunction due to aortic coarctation is associated with increased Rhokinase activity and a significant decrease in ACE2 expression. Rho-kinase inhibition did not improve cardiac remodeling, systolic dysfunction, nor did it change cardiac ACE2 levels.

Relação da Ascensão Matinal da Pressão Arterial com a Hipertrofia Ventricular Esquerda em Hipertensos Obesos / Association between Morning Surge and Left Ventricular Hypertrophy in Obese Hypertensive Patients

Resumo Fundamento O aumento do peso frequentemente desencadeia mecanismos que elevam a pressão arterial. A obesidade causa mudanças estruturais no miocárdio, incluindo aumento da massa ventricular, dilatação atrial, bem como disfunções diastólicas e sistólicas. Além disso, variações pressóricas nos hipertensos obesos, como a ascensão matinal (AM), podem ter relevância clínica na prevenção dos eventos cardiovasculares. A AM da pressão arterial é um fenômeno fisiológico, que quando elevada pode ser considerada um fator de risco independente para eventos cardiovasculares. Objetivo Avaliar valores da elevação da AM e sua associação com a hipertrofia ventricular esquerda (HVE) e com o Descenso do Sono (DS) em obesos e não obesos hipertensos. Métodos Estudo transversal que avaliou medidas pressóricas à monitorização ambulatorial da pressão arterial (MAPA) e a presença de HVE, avaliada pela ecocardiografia, em 203 pacientes hipertensos em tratamento ambulatorial, separados em dois grupos: 109 não obesos e 94 hipertensos obesos. O nível de significância adotado foi de 0,05 em testes bicaudais. Resultados A AM acima de 20 mmHg à MAPA foi detectada em 59,2% dos pacientes do grupo "não obesos" e em 40,6% no grupo "obesos". A HVE foi encontrada em 18,1% no grupo dos não-obesos e em 39,3% no grupo de obesos, p<0,001. No grupo "obesos" foi observado que AM >16 mmHg esteve associada à HVE, com [razão de prevalência: 2,80; IC95% (1,12-6,98), p=0,03]. Para o grupo dos "não obesos", o ponto de corte da AM para essa associação foi >22 mmHg. Conclusão A AM elevada associou-se positivamente com HVE, com comportamento peculiar na população de hipertensos e obesos.

Abstract Background Weight gain can trigger mechanisms that increase blood pressure. Nevertheless, obesity causes structural changes in the myocardium, including increased ventricular mass, atrial dilatation, and diastolic and systolic dysfunction. Additionally, blood pressure variations, like morning surge (MS) in obese hypertensive patients may have clinical relevance in cardiovascular events. Although morning blood pressure surge is a physiological phenomenon, excess MS can be considered an independent risk factor for cardiovascular events. Objective To evaluate MS values and their association with left ventricular hypertrophy (LVH) and nocturnal dipping (ND) in obese and non-obese hypertensive patients. Methods A cross-sectional study that evaluated BP measurements by ambulatory blood pressure monitoring (ABPM) and the presence of LVH by echocardiography in 203 hypertensive outpatients, divided into two groups: 109 non-obese and 94 obese hypertensives patients. The significance level was set at 0.05 in two-tailed tests. Results A MS above 20 mmHg by ABPM was detected in 59.2% of patients in the non-obese group and 40.6% in the obese group. LVH was found in 18.1% and 39.3% of patients in the non-obese and obese groups, respectively, p<0.001. In the "obese group", it was observed that a MS>16 mmHg was associated with LVH, [prevalence ratio: 2.80; 95%CI (1.12-6.98), p=0.03]. For the non-obese group, the cut-off point of MS for this association was >22 mmHg. Conclusion High MS was positively associated with LVH, with a particular behavior in the hypertensive obese group.

Acometimento do Ventrículo Direito na Cardiomiopatia por Depósito de Glicogênio (PRKAG2): Análise Ecocardiográfica Convencional e Avançada / Right Ventricle Involvement by Glycogen Storage Cardiomyopathy (PRKAG2): Standard and Advanced Echocardiography Analyses

Resumo Fundamento A síndrome do PRKAG2 é uma doença hereditária autossômica dominante rara, de início precoce. Objetivamos descrever os achados ecocardiográficos do ventrículo direito (VD) usando modalidades bi e tridimensionais (2D e 3D), incluindo índices de deformação miocárdica nesta cardiomiopatia. Também objetivamos demonstrar se esta técnica poderia identificar alterações na função do VD que pudessem distinguir quaisquer achados particulares. Métodos Trinta pacientes com síndrome do PRKAG2 (R302Q e H401Q) geneticamente comprovada, 16 (53,3%) do sexo masculino, com idade média de 39,1 ± 15,4 anos, foram submetidos a exame ecocardiográfico completo. A visão de 4 câmaras com foco no VD foi adquirida para medições 2D e 3D. Os testes t de Student ou Wilcoxon-Mann-Whitney foram usados para comparar as variáveis numéricas entre 2 grupos, e p < 0,05 foi considerado significativo. Resultados Doze pacientes (40%) tiveram marca-passo implantado por 12,4 ± 9,9 anos. A espessura diastólica média da parede livre do VD foi de 7,9 ± 2,9 mm. O strain longitudinal de 4 câmaras do VD (SL4VD), incluindo a parede livre e o septo interventricular, foi de -17,3% ± 6,7%, e o strain longitudinal da parede livre do VD (SLPLVD) foi de −19,1% ± 8,5%. A razão apical do SLPLVD mediu 0,63 ± 0,15. A fração de ejeção (FE) 3D média do VD foi de 42,6% ± 10,9% e abaixo dos limites normais em 56,7% dos pacientes. Correlação positiva ocorreu entre FE 3D do VD, SL4VD e SLPLVD, principalmente para pacientes sem marca-passo (p = 0,006). Conclusão O envolvimento do VD em PRKAG2 é frequente e ocorre em diferentes graus. A ecocardiografia é uma ferramenta valiosa na detecção de anormalidades miocárdicas do VD nesta condição. O uso de SL4VD 2D, SLPLVD e FE 3D oferecem indicadores confiáveis de disfunção sistólica do VD nesta cardiomiopatia rara e desafiadora.

Abstract Background PRKAG2 syndrome is a rare, early-onset autosomal dominant inherited disease. We aimed to describe the right ventricle (RV) echocardiographic findings using two and three-dimensional (2D and 3D) modalities including myocardial deformation indices in this cardiomyopathy. We also aimed to demonstrate whether this technique could identify changes in RV function that could distinguish any particular findings. Methods Thirty patients with genetically proven PRKAG2 (R302Q and H401Q), 16 (53.3%) males, mean age 39.1 ± 15.4 years, underwent complete echocardiography examination. RV-focused, 4-chamber view was acquired for 2D and 3D measurements. Student's t or Wilcoxon-Mann-Whitney tests were used to compare numerical variables between 2 groups, and p < 0.05 was considered significant. Results Twelve patients (40%) had a pacemaker implanted for 12.4 ± 9.9 years. RV free wall mean diastolic thickness was 7.9 ± 2.9 mm. RV 4-chamber longitudinal strain (RV4LS), including the free wall and interventricular septum, was -17.3% ± 6.7%, and RV free wall longitudinal strain (RVFWLS) was −19.1% ± 8.5%. The RVFWLS apical ratio measured 0.63 ± 0.15. Mean RV 3D ejection fraction (EF) was 42.6% ± 10.9% and below normal limits in 56.7% of patients. Positive correlation occurred between RV 3DEF, RV4LS, and RVFWLS, especially for patients without a pacemaker (p = 0.006). Conclusion RV involvement in PRKAG2 syndrome is frequent, occurring in different degrees. Echocardiography is a valuable tool in detecting RV myocardial abnormalities in this condition. The use of 2D RV4LS, RVFWLS, and 3DEF offers reliable indicators of RV systolic dysfunction in this rare, challenging cardiomyopathy.

Diagnóstico ecocardiográfico de hipertrofia ventricular izquierda en población pediátrica según método de normalización de masa ventricular e impacto del estado nutricional / Echocardiographic diagnosis of left ventricular hypertrophy in children according to the ventricular mass normalization method and impact of nutritional status

Antecedentes: la presencia de hipertrofia ventricular izquierda (HVI) es un marcador pronóstico y de severidad en condiciones de sobrecarga de presión. Se determina por masa ventricular (MV) aumentada en el ecocardiograma, debiéndose ajustar la MV por tamaño corporal en pediatría (normalización). Existen múltiples métodos de normalización, pero se desconoce si estos métodos son comparables. Objetivo: comparar distintos métodos de normalización de MV en sujetos con y sin sobrecarga de presión y evaluar el impacto del estado nutricional en el diagnóstico de HVI. Métodos: estudio de corte transversal en niños entre 5-18 años, divididos en 3 grupos: A) sin sobrecarga de presión (SSP), B) HTA (confirmado o sospecha), o C) Con cardiopatía obstructiva izquierda (CCOI, gradiente ≥25 mmHg). Se analizó antropometría, presión arterial y parámetros ecocardiográficos convencionales. Se determinó HVI por 4 mé-todos de normalización de MV: 1) Superficie corporal (SC) según sexo, 2) Talla2,7>51g/m2,7 3) Z-Score de Talla ≥ Z+2 y 4) Masa corporal magra ≥ Z+2. Se evaluó la concordancia de los métodos por grupo y según el diagnóstico nutricional. Resultados: se analizaron 1162 sujetos, 673(57,9%) hombres, edad 10,2 ± 3,2 años, 852(73,3%) SSP, 192(16,5%) con HTA y 118(10,2%) con CCOI. Un 38,6% presentaba malnutrición por exceso. Se observó diferencia entre los métodos para HVI en pacientes SSP y con CCOI(p=0,01), y en obesos con CCOI. La concordancia entre los métodos fue variable (rango de Kappa 0,38­0,71). Conclusiones: existe variabilidad y discrepancia entre los distintos métodos de normalización utilizados para definir HVI, influenciados por el estado nutricional.

Background: The presence of left ventricular hypertrophy (LVH) is both prognostic and severity marker in pressure overload conditions. It is determined by increased ventricular mass (MV) in the echocardiogram. MV must be adjusted for body size in pediatrics (normali-zation). There are multiple normalization methods, but it is unknown whether these methods are comparable. Objective: To compare different methods of MV normalization in subjects with and without pressure overload and to evaluate the impact of nutritional status on LVH diagnosis. Methods: Cross-sectional study in children aged 5-18 years, divided into 3 groups: A) without pressure overload (SSP), B) Systemic hypertension (confirmed or suspected), or C) Left obstructive heart disease (CCOI, gradient ≥ 25mmHg). Anthropometrics, blood pressure, and conventional echocardiographic parameters were analyzed. LVH was determined by 4 MV normalization methods: 1) Body surface area (BSA) adjusted by gender, 2) height2.7, 3) Z-Score height ≥ Z+2, and 4) lean body mass ≥ Z+2. The concordance of the methods was evaluated by group and according to the nutritional diagnosis. Results: 1162 subjects were analyzed, 673(57.9%) men, age 10.2 ± 3.2 years, 852(73.3%) SSP, 192(16.5%) with hypertension and 118(10.2%) with CCOI. 38.6% presented overnutrition. A difference was demonstrated between the methods for LVH diagnosis in patients with SSP and with CCOI (p=0.01), and in obese patients with CCOI. Agreement between methods was variable (Kappa range 0.38­0.71). Conclusions: There is variability and discrepancy between the different normalization methods used to define LVH, influenced by nutritional status.

Flutter Atrial na Síndrome do PRKAG2: Características Clínicas e Eletrofisiológicas / Atrial Flutter in PRKAG2 Syndrome: Clinical and Electrophysiological Characteristics

Resumo Fundamento A síndrome do PRKAG2 é uma rara doença genética autossômico dominante, fenocópia da miocardiopatia hipertrófica, caracterizada pelo acúmulo intracelular de glicogênio. Manifestações clínicas incluem pré-excitação ventricular, hipertrofia ventricular, distúrbio de condução cardíaca e arritmias atriais. Objetivo Comparar características clínicas e eletrofisiológicas observadas em pacientes com flutter atrial, com e sem síndrome do PRKAG2. Métodos Estudo observacional, comparativo de pacientes com flutter atrial: grupo A, cinco pacientes de família com síndrome do PRKAG2; e grupo B, 25 pacientes sem fenótipo da síndrome. O nível de significância foi de 5%. Resultados Todos os pacientes do grupo A apresentaram pré-excitação ventricular e bloqueio de ramo direito; quatro tinham marca-passo (80%). Pacientes do grupo A tinham menor idade (39±5,4 vs. 58,6±17,6 anos, p=0,021), e maior espessura de septo interventricular (mediana=18 vs. 10 mm; p<0,001) e parede posterior (mediana=14 vs. 10 mm; p=0,001). Quatro do grupo A foram submetidos a estudo eletrofisiológico, sendo observada via acessória fascículo-ventricular; em três foi realizada ablação do flutter atrial. Todos os do grupo B foram submetidos à ablação do flutter atrial, sem evidência de via acessória. Observado maior prevalência no grupo B de hipertensão arterial, diabetes mellitus, doença coronariana e apneia do sono, sem diferença estatisticamente significante. Conclusão Portadores da síndrome do PRKAG2 apresentaram flutter atrial em idade mais precoce, e menos comorbidades, quando comparados a pacientes com flutter atrial sem fenótipo da mutação. Importante suspeitar de miocardiopatia geneticamente determinada, como síndrome do PRKAG2, em jovens com flutter atrial, especialmente na presença de pré-excitação ventricular e hipertrofia ventricular familiar.

Abstract Background PRKAG2 syndrome is a rare autosomal dominant disease, a phenocopy of hypertrophic cardiomyopathy characterized by intracellular glycogen accumulation. Clinical manifestations include ventricular preexcitation, cardiac conduction disorder, ventricular hypertrophy, and atrial arrhythmias. Objective To compare the clinical and electrophysiological characteristics observed in patients with atrial flutter, with and without PRKAG2 syndrome. Methods An observational study comparing patients with atrial flutter: group A consisted of five patients with PRKAG2 syndrome from a family, and group B consisted of 25 patients without phenotype of PRKAG2 syndrome. The level of significance was 5%. Results All patients in group A had ventricular preexcitation and right branch block, and four had pacemakers (80%). Patients in group A were younger (39±5.4 vs 58.6±17.6 years, p=0.021), had greater interventricular septum (median=18 vs 10 mm; p<0.001) and posterior wall thickness (median=14 vs 10 mm; p=0.001). In group A, four patients were submitted to an electrophysiological study, showing a fasciculoventricular pathway, and atrial flutter ablation was performed in tree. All patients in group B were submitted to ablation of atrial flutter, with no evidence of accessory pathway. Group B had a higher prevalence of hypertension, diabetes mellitus, coronary artery disease and sleep apnea, with no statistically significant difference. Conclusion Patients with PRKAG2 syndrome presented atrial flutter at an earlier age and had fewer comorbidities when compared to patients with atrial flutter without mutation phenotype. The occurrence of atrial flutter in young individuals, especially in the presence of ventricular preexcitation and familial ventricular hypertrophy, should raise the suspicion of PRKAG2 syndrome.

Caracterización de la hipertensión arterial en adultos menores de 30 años de edad de un hospital del Paraguay

RESUMEN Introducción: la hipertensión arterial constituye el principal factor de riesgo para el desarrollo de enfermedades cardiovasculares. Su detección en adultos jóvenes obliga a buscar una causa secundaria y potencialmente corregible. Objetivo: determinar las características clínicas de la hipertensión arterial en adultos menores de 30 años de edad que acuden al Hospital Nacional, Itauguá, Paraguay, en el periodo 2019-2021. Sujetos y métodos: estudio descriptivo observacional retrospectivo de corte transversal donde se incluyó 50 pacientes entre 18 y 30 años de edad con hipertensión arterial. La investigación fue aprobada por el Comité de Ética de la Universidad Nacional de Itapúa, Paraguay. Resultados: la edad media fue 23 ± 4 años, en su mayoría eran provenientes de la zona urbana, siendo 58% del sexo masculino y con un bajo nivel educativo. La media de índice de masa corporal fue 23,5 ± 5 k/m2 y 58% no tenía antecedente familiar de hipertensión arterial. La media de cifras de presión arterial fueron 150 mmHg para la sistólica y 100 mmHg para la diastólica. La hipertensión arterial secundaria se detectó en 86% de la muestra. La etiología más frecuente fue la enfermedad renal parenquimatosa (86%), de los cuales 89% padecía enfermedad renal crónica y nefritis lúpica. La frecuencia de daño de órgano blanco fue de 86%, el fondo de ojo era anormal en 8%, 46% tenía hipertrofia ventricular izquierda por electrocardiograma y 58% por ecocardiograma, 78% tenía alteración de la arquitectura normal renal por ecografía, 57% presentaba creatininemia elevada, 76% trazas de proteínas en orina tomada al azar y 80% proteinuria de 24 hs elevada. Conclusión: la forma prevalente de hipertensión arterial en los adultos jóvenes estudiados fue la secundaria, con leve predominio del sexo masculino, con normopeso y sin antecedente familiar. La principal causa fue la enfermedad renal parenquimatosa. Más de la mitad de los casos presentó hipertrofia ventricular izquierda y proteinuria elevada.

ABSTRACT Introduction: High blood pressure is the main risk factor for the development of cardiovascular diseases. Its detection in young adults makes necessary to look for a secondary and potentially correctable cause. Objective: To determine the clinical characteristics of arterial hypertension in adults under 30 years of age who attended the Hospital Nacional of Itauguá, Paraguay, in the period 2019-2021. Subjects and methods: Retrospective observational cross-sectional descriptive study which included 50 patients between 18 and 30 years of age with arterial hypertension. The research was approved by the Ethics Committee of the National University of Itapúa, Paraguay. Results: The mean age was 23±4 years, most patients were from urban areas, 58% was male and had a low educational level. The mean body mass index was 23.5±5 k/m2 and 58% had no family history of arterial hypertension. The mean blood pressure values were 150 mmHg for systolic and 100 mmHg for diastolic. Secondary arterial hypertension was detected in 86% of the sample. The most frequent etiology was parenchymal kidney disease (86%), of which 89% had chronic kidney disease and lupus nephritis. The frequency of target organ damage was 86%, the eye fundus was abnormal in 8%, 46% had left ventricular hypertrophy by electrocardiogram and 58% by echocardiogram, 78% had abnormal renal architecture by ultrasound, 57% had elevated creatininemia, 76% trace protein in randomly collected urine, and 80% elevated 24-hour proteinuria. Conclusion: The prevalent form of arterial hypertension in the young adults studied was secondary, with a slight predominance of males, with normal weight and without family history. The main cause was renal parenchymal disease. More than half of the cases presented left ventricular hypertrophy and high proteinuria.

Hipertensão arterial sistêmica e hipertrofia ventricular esquerda: correlação entre parâmetros eletro-ecocardiográficos / Hypertension and left ventricle hypertrophy: correlation between ecg and echocardiographic parameters

Fundamento: A Hipertensão Arterial Sistêmica (HAS) acomete mais de 35% da população brasileira e tende a trazer repercussões cardíacas, entre elas a hipertrofia ventricular esquerda (HVE). O eletrocardiograma (ECG) é um exame indicado na investigação de possíveis repercussões cardiológicas em pacientes hipertensos, podendo apresentar alterações sugestivas de HVE. Objetivo: Avaliar sinais da presença de HVE em indivíduos hipertensos através do ECG e comparar com achados de ecocardiograma transtorácico (ETT). Método: Estudo transversal retrospectivo. Foram revisados prontuários eletrônicos de 159 pacientes (65,2±9,8 anos) diagnosticados com HAS, com e sem HVE ao ETT. Os resultados dos exames ECG e ETT foram comparados para avaliar a sensibilidade e especificidade do ECG em relação ao ETT. Nesta análise, foram utilizados os critérios de Sokolow-Lyon e Cornell no ECG e a relação de massa indexada do ventrículo esquerdo (VE) e espessura relativa de parede ao ETT, para avaliação do padrão geométrico do VE (PGV). Resultados: Identificamos 128 pacientes hipertensos com HVE e 31 sem alterações geométricas. A sensibilidade e especificidade para identificar HVE ao ECG foram de 31% e 90%, respectivamente, quando considerado o critério de Sokolow-Lyon conjuntamente com o critério de Cornell. Conclusão: A melhor análise de HVE ao ECG deve considerar a associação dos critérios de Sokolow-Lyon e Cornell. Apesar de apresentar uma sensibilidade menor que o ETT, o ECG possui alta especificidade e continua sendo uma alternativa importante inicial para o diagnóstico de HVE em indivíduos hipertensos

Introduction: Hipertension is a condition that affects more than 35% of the brazilian population and can lead to cardiac repercussions such as left ventricle hypertrophy (LVH). The electrocardiogram (ECG) is used in the investigation of possible cardiac repercussions in hypertensive patients, as it may indicate alterations that suggest LVH. Objective: To evaluate signs of LVH in hypertensive patients through ECG and comparing with findings from transthoracic echocardiogram (TTE). Methods: Transversal retrospective study. One hundred fifty nine electronic medical records of hypertensive patients (65,2 ± 9,8 years), with and without LVH at the TTE, were selected. Results of the ECG and TTE were compared to assess the sensitivity and specificity of the ECG in relation to TTE. Sokolow-Lyon and Cornell criteria were applied on ECG and left ventricular mass index and relative wall thickness on TTE to assess left ventricular geometry. Results: We identified 128 hypertensive patients with abnormal left ventricular geometry and 31 hypertensive patients without geometric abnormalities. The sensitivity and specificity for LVH on ECG were 31% and 90%, respectively, when considering both the Sokolow-Lyon and the Cornell criteria. Conclusion: the best way to evaluate LVH on the ECG is by using both Sokolow-yon and Cornell criteria. Despite having a lower sensitivity than TTE, ECG has high specificity and continues to be an important initial alternative to be used in the assessment of LVH in hypertensive patients

Mecânica Atrial na Cardiomiopatia Hipertrófica: Discriminando Hipertrofia de Fibrose Ventricular / Atrial Mechanics in Hypertrophic Cardiomyopathy: Discriminating between Ventricular Hypertrophy and Fibrosis

Resumo Fundamento A cardiomiopatia hipertrófica (CMH) e a hipertrofia ventricular esquerda (HVE) secundária à hipertensão arterial sistêmica (HAS) podem estar associadas a anormalidades funcionais do átrio esquerdo (AE). Objetivos Caracterizar a mecânica do AE na CMH e na HAS e avaliar qualquer correlação com a extensão da fibrose ventricular esquerda medida por ressonância magnética cardíaca (RMC) em pacientes com CMH. Métodos A função longitudinal do AE derivada do ecocardiograma bidimensional com speckle tracking foi adquirida a partir de cortes apicais de 60 pacientes com CMH e 34 indivíduos controles, pareados por idade. Pacientes com CMH também foram submetidos à RMC, com medida da extensão do realce tardio por gadolínio. A associação com parâmetros de strain do AE foi analisada. Valores p < 0,05 foram definidos como estatisticamente significativos. Resultados A média da fração de ejeção do ventrículo esquerdo não foi diferente entre os grupos. A razão E/e' estava comprometida no grupo CMH e preservada no grupo controle. A mecânica do AE estava significativamente reduzida na CMH em comparação aos pacientes com HAS. O strain rate do AE nas fases de reservatório (SRrAE) e na fase contrátil (SRctAE) foram os melhores parâmetros de discriminação de CMH com uma área sob a curva (AUC) de 0,8, seguido do strain do AE na fase de reservatório (SrAE) (AUC 0,76). O SRrAE e o SRctAE apresentaram elevada especificidade (89% e 91%, respectivamente), e o SrAE apresentou sensibilidade de 80%. Um decréscimo de 2,79% no strain rate do AE na fase de condução (SRcdAE) foi preditor de um aumento de 1 cm na extensão do RT pelo gadolínio (r2=0,42, β 2,79, p=0,027). Conclusões O SRrAE e o SRctAE foram os melhores fatores de discriminação de HVE secundária à CMH. O SRcdAE foi preditor do grau de fibrose ventricular esquerda avaliada por RMC. Esses achados sugerem que a mecânica do AE pode ser um potencial preditor de gravidade de doença na CMH.

Abstract Background Hypertrophic cardiomyopathy (HCM) and left ventricular hypertrophy (LVH) secondary to systemic hypertension (HTN) may be associated with left atrial (LA) functional abnormalities. Objectives We aimed to characterize LA mechanics in HCM and HTN and determine any correlation with the extent of left ventricular (LV) fibrosis measured by cardiac magnetic resonance (CMR) in HCM patients. Methods Two-dimensional speckle tracking-derived longitudinal LA function was acquired from apical views in 60 HCM patients, 60 HTN patients, and 34 age-matched controls. HCM patients also underwent CMR, with measurement of late gadolinium enhancement (LGE) extension. Association with LA strain parameters was analyzed. Statistical significance was set at p<0.05. Results Mean LV ejection fraction was not different between the groups. The E/e' ratio was impaired in the HCM group and preserved in the control group. LA mechanics was significantly reduced in HCM, compared to the HTN group. LA strain rate in reservoir (LASRr) and in contractile (LASRct) phases were the best discriminators of HCM, with an area under the curve (AUC) of 0.8, followed by LA strain in reservoir phase (LASr) (AUC 0.76). LASRr and LASR-ct had high specificity (89% and 91%, respectively) and LASr had sensitivity of 80%. A decrease in 2.79% of LA strain rate in conduit phase (LASRcd) predicted an increase of 1cm in LGE extension (r2=0.42, β 2.79, p=0.027). Conclusions LASRr and LASRct were the best discriminators for LVH secondary to HCM. LASRcd predicted the degree of LV fibrosis assessed by CMR. These findings suggest that LA mechanics is a potential predictor of disease severity in HCM.