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Abstract During the preanesthetic assessment of the obstetric patient, it is critical to assess the patient's cardiovascular baseline condition, identify any potential risks, and facilitate behavioral modification to develop an individualized management strategy aimed at minimizing complications. Cardiac point-of-care ultrasound (POCUS) is a valuable instrument for assessing the morphology and function of the heart prior to surgery. Cardiac POCUS is not designed to replace comprehensive transthoracic echocardiography, which is the realm of cardiovascular anesthesiology and cardiology. However, when used in conjunction with anamnesis, physical examination, electrocardiogram, and previous laboratory results, cardiac POCUS is a valuable adjunct in the diagnostic toolbox of anesthesiologists. It allows for direct visualization of the heart and great vessels, with added benefits of speed, availability, and low risk for the patient. The purpose of this manuscript is to explore and describe the advantages of cardiac POCUS in the preanesthetic period of obstetric patients and its potential value for anesthesiologists through the identification of potentially hazardous conditions that may require individualized preoperative management.

Resumen Durante la valoración preanestésica de la paciente obstétrica, es fundamental evaluar la condición cardiovascular basal de la paciente, identificar riesgos potenciales y facilitar modificaciones conductuales para desarrollar una estrategia de manejo individualizada, dirigida a minimizar las complicaciones. La ecografía cardíaca a la cabecera del paciente (POCUS) es un instrumento valioso para evaluar la morfología y la función del corazón antes de un procedimiento quirúrgico. El POCUS cardiaco no está diseñado para sustituir a la ecocardiografía transtorácica formal, que corresponde al área de anestesiología cardiovascular y a la cardiología. Sin embargo, cuando se usa en conjunto con la anamnesis, el examen físico, el electrocardiograma y los resultados de exámenes de laboratorio previos, el POCUS cardiaco es un complemento valioso dentro del arsenal diagnóstico de los anestesiólogos. Permite la visualización directa del corazón y de los grandes vasos, con beneficios adicionales de velocidad, disponibilidad y bajo riesgo para la paciente. El objetivo del presente manuscrito es explorar y describir las ventajas del POCUS cardiaco durante el periodo preanestésico en pacientes obstétricas y su valor potencial para los anestesiólogos, a través de la identificación de condiciones eventualmente peligrosas que pudieran requerir un manejo preoperatorio individualizado.

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Resumo Fundamento: A síndrome do PRKAG2 tipicamente se manifesta na adolescência e início da idade adulta, cursando com hipertrofia ventricular esquerda, arritmias e risco de morte súbita. O achado de marcadores ecocardiográficos antes da manifestação clínica nos filhos de pais acometidos pela doença pode facilitar a estratégia de prevenção e planejamento terapêutico para esse grupo de pacientes. Objetivo: Identificar a existência de achados ecocardiográficos que se manifestem precocemente nos filhos de pais acometidos por síndrome do PRKAG2, enquanto ainda assintomáticos. Métodos: Estudo observacional transversal em que sete participantes, filhos de pais com diagnóstico estabelecido de síndrome do PRKAG2, com idades entre 9 meses e 12 anos e diagnóstico genético comprovado, foram submetidos à ecocardiografia convencional e por técnicas avançadas, tendo seus achados comparados aos de grupo controle composto por sete voluntários pareados por sexo e idade, hígidos do ponto de vista cardiovascular. Um valor de p < 0,05 foi considerado significante. Resultados: A ecocardiografia convencional mostrou valores aumentados com significância estatística no grupo caso para átrio esquerdo, septo interventricular, parede posterior do ventrículo esquerdo, massa ventricular indexada e espessura relativa da parede (p < 0,05). O strain sistólico longitudinal global obtido pelo ecocardiograma bidimensional não mostrou diferença estatisticamente significativa entre os grupos caso e controle. Nenhum dos parâmetros ao ecocardiograma tridimensional apresentou significância estatística entre os grupos. Conclusão: Crianças diagnosticadas com PRKAG2 demonstraram achados ecocardiográficos indicativos de tendência à hipertrofia cardíaca. A ecocardiografia pode ser uma ferramenta útil na avaliação e seguimento desse grupo de pacientes, antes do início de manifestações clínicas.

Abstract Background: PRKAG2 syndrome typically manifests in adolescence and early adulthood, progressing with left ventricular hypertrophy, arrhythmias, and risk of sudden death. Findings of echocardiographic markers before clinical manifestation in children of patients affected by the disease can facilitate prevention strategies and therapeutic planning for this patient group. Objective: To identify the existence of echocardiographic findings that manifest early in children of parents affected by PRKAG2 syndrome, while they are still asymptomatic. Methods: In this cross-sectional observational study, 7 participants who were children of parents with established diagnosis of PRKAG2 syndrome, between the ages of 9 months and 12 years, with proven genetic diagnosis, underwent conventional and advanced echocardiography. Their findings were compared to those of a control group composed of 7 age- and sex-matched volunteers who were healthy from a cardiovascular point of view. P values < 0.05 were considered significant. Results: Conventional echocardiography showed statistically significantly higher values in the case group for left atrium, interventricular septum, left ventricular posterior wall, indexed ventricular mass, and relative wall thickness (p < 0.05). Global longitudinal systolic strain on 2-dimensional echocardiography did not show statistical significance between the case and control groups. None of the parameters on 3-dimensional echocardiography showed statistical significance between groups. Conclusion: Children diagnosed with PRKAG2 showed echocardiographic findings indicative of a tendency toward cardiac hypertrophy. Echocardiography can be a useful tool in the evaluation and follow-up of this patient group before the onset of clinical manifestations.

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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.

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Resumo Fundamento A ecocardiografia é essencial para avaliação do coração transplantado. No entanto, os valores de normalidade no transplante cardíaco (TC) não estão claramente definidos. Objetivos: Comparar parâmetros ecocardiográficos convencionais e pela técnica de Speckle Tracking entre pacientes transplantados cardíacos sem rejeição e uma população de indivíduos saudáveis. Métodos Foram estudados prospectivamente pacientes adultos, com menos de 1 ano de TC, que realizaram biópsia endomiocárdica de vigilância seguido de ecocardiograma transtorácico (ETT). Medidas convencionais de ETT acrescidas da avaliação de mecânica cardíaca por meio do Strain pelo Speckle Tracking foram realizadas e comparadas com um grupo de voluntários saudáveis. A significância estatística adotada para o estudo foi de 5%. Resultados Avaliou-se 36 pacientes transplantados sem rejeição, os quais foram comparados com 30 indivíduos saudáveis. Observou-se redução nos valores de Strain Global Longitudinal de Ventrículo Esquerdo em valor absoluto (11,99% transplantados, 20,60% controle, p<0,0001), Strain de parede livre de Ventrículo Direito (transplantados 16,67%, controle 25,50%, p<0,0001) e dos índices de trabalho miocárdico (p<0,0001), maior tamanho do átrio esquerdo (38,17 ml/m2 transplantados, controle 18,98 ml/m2, p<0,0001), maior índice de massa e espessura relativa das paredes (p<0,0001) e a presença da Doença de Chagas como principal etiologia para o transplante. Conclusão Os transplantados cardíacos estáveis e sem rejeição apresentaram diferenças com relação aos parâmetros ecocardiográficos comparados com indivíduos saudáveis. Estes achados indicam que medidas ecocardiográficas convencionais e de mecânica cardíaca são alteradas em transplantados mesmo na ausência de rejeição e podem ser relevantes para o contexto clínico e acompanhamento dos pacientes.

Abstract Background Echocardiography is essential for the assessment of patients with heart transplants. However, normal values in such individuals are not clearly defined. Objectives To compare conventional echocardiographic and speckle tracking variables between patients with unrejected heart transplants and healthy individuals. Methods : A prospective study was conducted with adult patients having undergone heart transplantation at least one year earlier and submitted to endomyocardial biopsy followed by transthoracic echocardiogram (TTE). Conventional TTE measures and mechanical heart strain assessments using speckle tracking were performed and the results were compared to those of a group of healthy volunteers. Statistical significance was set at 5% (p < 0.05). Results Thirty-six transplant patients without rejection were analyzed and compared to 30 healthy individuals. Chagas disease was the main reason for transplantation. Lower left ventricular global longitudinal strain expressed in absolute values was found (11.99% in transplant patients vs. 20.60% in controls; p <0.0001), right ventricular free wall longitudinal strain (16.67% in transplant patients vs. 25.50% in controls; p <0.0001) and myocardial work indices (p < 0.0001) as well as a larger size of the left atrium (38.17 ml/m2 in transplant patients vs. 18.98 ml/m2 in controls; p <0.0001) and greater mass and relative wall thickness (p <0.0001). Conclusion Stable patients having undergone heart transplants without rejection have differences concerning echocardiographic variables compared to healthy individuals. These findings indicate that conventional echocardiographic measures and heart mechanics are altered in transplant patients even in the absence of rejection. Such findings are relevant to the clinical context and follow-up of the patient.

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OBJECTIVES: Arrhythmogenic cardiomyopathy (ACM) is a complex cardiac disorder associated with ventricular arrhythmias. Understanding the relationship between mechanical uncoupling and cardiac structural changes in ACM patients is crucial for improved risk stratification and management. METHODS: In this study, we enrolled 25 ACM patients (median age 34 years, 72% men) based on the 2019 Modified Task Force and Padua criteria. Patients were categorized by the presence or absence of clinically relevant ventricular tachycardia (crVT), necessitating emergency interventions. Right ventricular-arterial coupling (VAC) was assessed using echocardiography. Low-rank regression splines were employed to model left ventricular ejection fraction (LVEF) and right ventricular ejection fraction (RVEF) in relation to VAC. RESULTS: Positive associations were observed between VAC and LVEF (ρ = 0.472, p = 0.023), RVEF (ρ = 0.522, p = 0.038), and right ventricular (RV) indexed stroke volume (ρ = 0.79, p < 0.001). Patients with crVT exhibited correlations with RV shortening, reduced RVEF (39.6 vs. 32.2%, p = 0.025), increased left ventricular (LV) mass (38.99 vs. 45.55, p = 0.045), and LV end-diastolic volume (LVEDV) (56.99 vs. 68.15 mL/m2, p = 0.045). Positive associations for VAC were noted with LVEDV (p = 0.039) and LV mass (p = 0.039), while negative correlations were observed with RVEF by CMR (p = 0.023) and RV shortening by echocardiography (p = 0.026). CONCLUSIONS: Our findings underscore the significance of right VAC in ACM, demonstrating correlations with RV and LVEF, RV stroke volume, and clinically relevant arrhythmias. Insights into RVEF, LV mass, and end-diastolic volume provide valuable contributions to the understanding of ACM pathophysiology and may inform risk assessment strategies.

OBJETIVOS: La miocardiopatía arritmogénica (MCA) es un trastorno cardíaco complejo asociado con arritmias ventriculares (AV). Comprender la relación entre el desacoplamiento mecánico y los cambios estructurales cardíacos en pacientes con MCA es crucial para una estratificación de riesgos y una gestión mejorada. MÉTODOS: En este estudio, reclutamos a 25 pacientes con MCA (edad media 34 años, 72% hombres) basándonos en los criterios del Task Force 2019 y los criterios de Padua. Los pacientes se clasificaron según la presencia o ausencia de taquicardia ventricular clínicamente relevante (crVT), que requería intervenciones de emergencia. Se evaluó el acoplamiento ventricular derecho-arterial (VAC) mediante ecocardiografía. Se utilizaron low-rank regression splines para modelar la fracción de eyección del ventrículo izquierdo (FEVI) y la fracción de eyección del ventrículo derecho (FEVD) en relación con el VAC. RESULTADOS: Se observaron asociaciones positivas entre el VAC y la FEVI (ρ = 0.472, p = 0.023), la FEVD (ρ = 0.522, p = 0.038) y el volumen de eyección indexado del ventrículo derecho (ρ = 0.79, p < 0.001). Los pacientes con crVT mostraron correlaciones con acortamiento del ventrículo derecho, disminución de la FEVD (39.6 vs. 32.2%, p = 0.025), aumento de la masa ventricular izquierda (38.99 vs. 45.55, p = 0.045) y volumen diastólico final del ventrículo izquierdo (VDVI) (56.99 vs. 68.15 mL/m2, p = 0.045). Se observaron asociaciones positivas para el VAC con el VDVI (p = 0.039) y la masa ventricular izquierda (p = 0.039), mientras que se observaron correlaciones negativas con la FEVD por RMC (p = 0.023) y el acortamiento del ventrículo derecho por ecocardiografía (p = 0.026). CONCLUSIONES: Nuestros hallazgos subrayan la importancia del VAC derecho en la MCA, demostrando correlaciones con la FEVD y FEVI, el volumen de eyección del ventrículo derecho y arritmias clínicamente relevantes. Las percepciones sobre la FEVD, la masa ventricular izquierda y el volumen diastólico final proporcionan contribuciones valiosas para comprender la fisiopatología de la MCA y pueden informar estrategias de evaluación de riesgos.

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Introducción: La insuficiencia cardíaca (IC) tiene alta morbilidad y mortalidad. Su diagnóstico temprano en atención primaria de salud (APS) es un reto dada la baja especificidad de sus criterios clínicos y las limitaciones en acceso a técnicas diagnósticas. Objetivo: Analizar la prevalencia de IC, subtipos y pronóstico de pacientes con disnea y/o edema de extremidades inferiores que consultan en APS. Metodología: Se trata de un estudio prospectivo de 340 pacientes en APS, sin diagnóstico previo de IC. Se realizó una evaluación clínica, electrocardiograma, NT-proBNP "point-of-care", ecocardiografía con interpretación telemática por cardiólogos. Utilizando los algoritmos HFA-PEFF y H2FPEF se clasificaron los pacientes como :1) IC con fracción de eyección (FE) reducida (ICFER); 2) IC con FE preservada (ICFEP) y 3) pacientes sin diagnóstico de IC. Se efectuó un análisis de sobrevida de los diferentes grupos. Resultados: La prevalencia de ICFER fue 8%, ICFEP por HFA-PEFF 42% y por H2FPEF 8%. Los algoritmos sugieren efectuar un estudio complementario en el 47% con HFA-PEFF y 76% con H2FPEF (p<0.05). La sobrevida global a 36 meses fue 90±2% y cardiovascular 95±1%. Usando HFA-PEFF, los pacientes con IC tuvieron menor sobrevida que aquellos sin IC (HR 2.3, IC95% 1.14.9; p=0.029). No hubo diferencias de mortalidad con H2FPEF. Conclusiones: En pacientes de APS que consultan por disnea y/o edema de extremidades inferiores sometidos a evaluación con NT-proBNP y ecocardiografía, se observó una prevalencia de IC de hasta 50%, 8% de ICFER y 42% de ICFEP. La caracterización de IC utilizando HFA-PEFF está asociada al pronóstico vital.

Background: Heart failure (HF) is a condition associated with high morbidity and mortality. Its early diagnosis in primary health care (PHC) represents a substantial challenge, considering its non-specific clinical manifestations and the limitations on timely access to diagnostic techniques. Objective: To evaluate the prevalence of HF, characterize subtypes and determine the prognosis of patients consulting in PHC for dyspnea Edema of the lower extremities. Methods: Prospective study in 340 patients who consulted in PHC, without previous diagnosis of HF. Clinical evaluation, electrocardiogram, NT-proBNP point-ofcare and echocardiography with telematic interpretation by cardiologists were performed. Using the HFA-PEFF and H2FPEF algorithms patients were classified as: 1) HF with reduced ejection fraction (HFREF); 2) HF with preserved ejection fraction (HFPEF) and 3) No HF. Actuarial survival analyses were performed. Results: We observed a prevalence of HFREF of 8%, high probability of HFPEF by HFA-PEFF in 42% and by H2FPEF in 8%. Intermediate probability of HFPEF, requiring complementary study, was observed in 47% of patients with HFA-PEFF and 76% of patients with H2FPEF (p<0.05). Overall survival at 36 months was 90±2% and cardiovascular survival at 36 months was 95±1%. Using HFA-PEFF, patients with HF presented lower overall survival compared to patients with no HF (HR 2.3, 95%CI 1.1-4.9; p=0.029). We did not observe mortality differences with H2FPEF. Conclusions: In patients consulting for dyspnea and/or lower extremity edema at PHC and undergoing evaluation with NT-proBNP and echocardiography, we observed a HF prevalence of 50%. HF classification through HFA-PEFF was associated with lower survival rates.

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Resumo Fundamento: A amiloidose por transtirretina (ATTR) é uma doença infiltrativa causada pela deposição anormal de proteína principalmente no coração e no sistema nervoso periférico. Quando acomete o coração, a doença manifesta-se como uma cardiomiopatia restritiva e, quando afeta o sistema nervoso periférico e autônomo, apresenta-se como uma polineuropatia, podendo ser chamada de Polineuropatia Amiloidótica Familiar (PAF). Existem dois subtipos de ATTR, a ATTR selvagem, em que não há variantes genéticas, e a ATTR hereditária, caracterizada por uma variante no gene que codifica a proteína transtirretina (T/TR). Em ambos os subtipos, o envolvimento cardíaco é o principal marcador prognóstico. Objetivos: Avaliar a prevalência do envolvimento cardíaco subclínico em uma amostra de pacientes com variantes genéticas no gene TTR usando a cintilografia com pirofosfato e o ecocardiograma com strain; comparar os achados cintilográficos e as medidas de strain; avaliar a associação entre PAF e o envolvimento subclínico; e analisar se existe uma associação entre uma variante genética específica e o envolvimento cardíaco. Métodos: Estudo transversal com carreadores de variantes no gene TTR sem sintomas cardiovasculares e sem alterações nos parâmetros da eletrocardiografia ou do ecocardiograma convencional. Todos os pacientes foram submetidos à cintilografia com pirofosfato e à ecocardiografia com análise de strain. O envolvimento cardíaco subclínico, definido como um escore de Perugini ≥ 2, razão Coração (C)/ Hemitórax Contralateral (CL) ≥ 1,5 em uma hora, C/CL ≥ 1,3 na terceira hora, ou um strain longitudinal global (SGL) ≤ −17%. Realizadas análises descritiva e analítica, e aplicados o teste exato de Fisher e o teste de Mann-Whitney. Um valor de p<0,05 foi considerado significativo. Resultados: Os 23 pacientes avaliados apresentavam uma idade mediana de 51 (37-57) anos, 15 (65,2%) eram do sexo feminino, 12 (52,2%) eram pardos, nove (39,1%) apresentavam hipertensão arterial sistêmica, e nove (39,1%) tinham um diagnóstico prévio de PAF. Dos nove pacientes com PAF, oito (34,8%) usavam tafamidis. As variantes genéticas identificadas foram Val142IIe, Val50Met e IIe127Val. O valor mediano do SGL foi −19% (-16% - −20%). Dos 23 pacientes, nove (39,1%; 95% CI = 29-49%) preencheram os critérios de envolvimento cardíaco, seis (26%) somente pelo critério do SGL. Não houve associação entre PAF e um carreador assintomático avaliado por ecocardiograma com análise de strain e pela cintilografia com pirofostato (p=0,19). A prevalência de hipertensão arterial sistêmica, diabetes mellitus, dislipidemia, tabagismo e SGL reduzido não foi diferente entre os grupos. A velocidade da onda e' septal foi a única variável que apresentou diferença significativa entre os indivíduos com e sem SGL reduzido, com uma área sob a curva ROC de 0,80 (IC95% = 0,61-0,98, p = 0,027). A melhor acurácia diagnóstica foi alcançada com uma velocidade e' septal ≤ 8,5 cm/s. Não houve associação entre o tipo de variante genética e o envolvimento cardíaco pré-clínico, nem entre o uso de tafamidis e este mesmo envolvimento (37,5% versus 40,0%, p = 0,90). Conclusão: O envolvimento cardíaco subclínico foi frequente em uma amostra de carreadores da variante genética do gene TTR. Um valor do SGL reduzido foi o achado mais comum. Não houve associação entre a presença de polineuropatia amiloidótica e o envolvimento subclínico. O tipo de variante genética não foi associado com envolvimento cardíaco precoce. Nesta amostra, o uso de tafamidis (20mg/dia) não foi associado com uma menor prevalência de envolvimento cardíaco subclínico.

Abstract Background: Transthyretin amyloidosis (ATTR) is an infiltrative disease caused by abnormal protein deposition mainly in the heart and peripheral nervous system. When it affects the heart, the disease presents as restrictive cardiomyopathy; when it affects the peripheral and autonomic nervous system, it manifests as polyneuropathy, and is called familial amyloid polyneuropathy (FAP). There are two ATTR subtypes: wild-type ATTR, where there is no mutation, and mutant ATTR (ATTRm), which is characterized by a mutation in the gene encoding the transthyretin protein (TTR). In both subtypes, cardiac involvement is the major marker of poor prognosis. Objectives: To assess the prevalence of subclinical cardiac involvement in a sample of patients with TTR gene mutation by using pyrophosphate scintigraphy and strain echocardiography; to compare scintigraphy and strain findings; to evaluate the association between neurological manifestations (FAP) and subclinical cardiac involvement; and to analyze whether there is an association between any specific mutation and cardiac involvement. Methods: This is a cross-sectional study with carriers of the TTR gene mutation, without cardiovascular symptoms or changes in electrocardiographic or conventional echocardiographic parameters. All patients underwent pyrophosphate scintigraphy and strain echocardiography. Subclinical cardiac involvement was defined as a Perugini score ≥ 2, heart-to-contralateral lung (H/CL) ratio ≥ 1.5 at 1 h, H/CL ≥1.3 at 3 h, or global longitudinal strain (GLS) ≤ −17%. Descriptive and analytical analyses were performed and Fisher's exact test and Mann-Whitney test were applied. A value of p < 0.05 was considered significant. Results: The 23 patients evaluated had a median age of 51 years (IQR 37-57 years), 15 (65.2%) were female, 12 (52.2%) were Pardo, nine (39.1%) had systemic arterial hypertension, and nine (39.1%) had a previous diagnosis of FAP. Of the nine patients with FAP, 8 (34.8%) were on tafamidis. The associated mutations were Val142IIe, Val50Met, and IIe127Val. The median GLS in the sample was −19% (−16% to −20%). Of the 23 patients, nine (39.1%; 95% CI = 29-49%) met criteria for cardiac involvement, six (26%) by the GLS-based criteria only. There was no association between having FAP and being an asymptomatic carrier, as assessed by strain echocardiography and pyrophosphate scintigraphy (p = 0.19). The prevalence of systemic arterial hypertension, diabetes mellitus, dyslipidemia, smoking, and reduced GLS did not differ between groups. Septal e' wave velocity was the only variable that significantly differed between individuals with and without reduced GLS, with an area under the ROC curve of 0.80 (95% CI = 0.61-0.98, p = 0.027). The best diagnostic accuracy was achieved with a septal e' velocity ≤ 8.5 cm/s. There was no association between mutation type and preclinical cardiac involvement, nor between tafamidis use and lower degree of cardiac involvement (37.5% versus 40.0%, p = 0.90). Conclusion: Subclinical cardiac involvement was common in a sample of TTR mutation carriers without cardiac involvement. Reduced left ventricular GLS was the most frequent finding. There was no association between the presence of amyloid polyneuropathy and subclinical cardiac involvement. Type of mutation was not associated with early cardiac involvement. In this sample, the use of tafamidis 20 mg/day was not associated with a lower prevalence of subclinical cardiac involvement.

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Resumo Fundamento: Sabe-se que a rigidez aórtica (RA) aumenta em pacientes com disfunção erétil (DE). Os inibidores da enzima fosfodiesterase tipo 5 (PDE-5) são usados no tratamento da DE, e as respostas dos pacientes a esse tratamento podem variar. Objetivos: Nosso objetivo foi investigar o papel da RA na previsão da resposta de pacientes planejados para tomar inibidores da enzima PDE-5 devido à DE. Métodos: Um total de 96 pacientes do sexo masculino com DE foram incluídos no estudo. O questionário do Índice Internacional de Função Erétil (IIEF) foi utilizado para avaliar a presença e gravidade da DE e a resposta ao tratamento. A ecocardiografia transtorácica foi utilizada para avaliar RA. Resultados: Houve diferença estatisticamente significativa entre os valores de deformação aórtica e distensibilidade aórtica dos grupos de estudo (p<0,001). O escore delta IIEF apresentou alto nível de correlação positiva com a deformação aórtica (p<0,01, r=0,758) e um nível moderado de correlação positiva com a distensibilidade aórtica (p<0,01, r=0,574). Conclusão: Determinamos que em pacientes com DE, a deformação aórtica e a distensibilidade aórtica medidas de forma não invasiva por meio de ecocardiografia transtorácica são parâmetros importantes na previsão da resposta dos pacientes à terapia com inibidores da PDE-5.

Abstract Background: It is known that aortic stiffness (AS) increases in patients with erectile dysfunction (ED). Phosphodiesterase type-5 (PDE-5) enzyme inhibitors are used in the treatment of ED, and patients' responses to this treatment may vary. Objectives: We aimed to investigate the role of AS in predicting the response of patients planned to take PDE-5 enzyme inhibitors due to ED. Methods: A total of 96 male patients with ED were included in the study. The International Index of Erectile Function (IIEF) questionnaire was used to evaluate the presence and severity of ED and the response to treatment. Transthoracic echocardiography was used to evaluate AS. Results: There was a statistically significant difference between the aortic strain and aortic distensibility values of the study groups (p<0.001). The delta IIEF score had a high level of positive correlation with aortic strain (p<0.01, r=0.758) and a moderate level of positive correlation with aortic distensibility (p<0.01, r=0.574). Conclusion: We determined that in patients with ED, aortic strain and aortic distensibility measured non-invasively using transthoracic echocardiography are important parameters in predicting patients' response to PDE-5 inhibitor therapy.

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RESUMEN Introducción: El número creciente de estudios ecocardiográficos y la necesidad de cumplir rigurosamente con las recomendaciones de guías internacionales de cuantificación, ha llevado a que los cardiólogos deban realizar tareas sumamente extensas y repetitivas, como parte de la interpretación y análisis de cantidades de información cada vez más abrumadoras. Novedosas técnicas de machine learning (ML), diseñadas para reconocer imágenes y realizar mediciones en las vistas adecuadas, están siendo cada vez más utilizadas para responder a esta necesidad evidente de automatización de procesos. Objetivos: Nuestro objetivo fue evaluar un modelo alternativo de interpretación y análisis de estudios ecocardiográficos, basado fundamentalmente en la utilización de software de ML, capaz de identificar y clasificar vistas y realizar mediciones estandarizadas de forma automática. Material y métodos: Se utilizaron imágenes obtenidas en 2000 sujetos normales, libres de enfermedad, de los cuales 1800 fueron utilizados para desarrollar los algoritmos de ML y 200 para su validación posterior. Primero, una red neuronal convolucional fue desarrollada para reconocer 18 vistas ecocardiográficas estándar y clasificarlas de acuerdo con 8 grupos (stacks) temáticos. Los resultados de la identificación automática fueron comparados con la clasificación realizada por expertos. Luego, algoritmos de ML fueron desarrollados para medir automáticamente 16 parámetros de eco Doppler de evaluación clínica habitual, los cuales fueron comparados con las mediciones realizadas por un lector experto. Finalmente, comparamos el tiempo necesario para completar el análisis de un estudio ecocardiográfico con la utilización de métodos manuales convencionales, con el tiempo necesario con el empleo del modelo que incorpora ML en la clasificación de imágenes y mediciones ecocardiográficas iniciales. La variabilidad inter e intraobservador también fue analizada. Resultados: La clasificación automática de vistas fue posible en menos de 1 segundo por estudio, con una precisión de 90 % en imágenes 2D y de 94 % en imágenes Doppler. La agrupación de imágenes en stacks tuvo una precisión de 91 %, y fue posible completar dichos grupos con las imágenes necesarias en 99% de los casos. La concordancia con expertos fue excelente, con diferencias similares a las observadas entre dos lectores humanos. La incorporación de ML en la clasificación y medición de imágenes ecocardiográficas redujo un 41 % el tiempo de análisis y demostró menor variabilidad que la metodología de interpretación convencional. Conclusión: La incorporación de técnicas de ML puede mejorar significativamente la reproducibilidad y eficiencia de las interpretaciones y mediciones ecocardiográficas. La implementación de este tipo de tecnologías en la práctica clínica podría resultar en reducción de costos y aumento en la satisfacción del personal médico.

ABSTRACT Background: The growing number of echocardiographic tests and the need for strict adherence to international quantification guidelines have forced cardiologists to perform highly extended and repetitive tasks when interpreting and analyzing increasingly overwhelming amounts of data. Novel machine learning (ML) techniques, designed to identify images and perform measurements at relevant visits, are becoming more common to meet this obvious need for process automation. Objectives: Our objective was to evaluate an alternative model for the interpretation and analysis of echocardiographic tests mostly based on the use of ML software in order to identify and classify views and perform standardized measurements automatically. Methods: Images came from 2000 healthy subjects, 1800 of whom were used to develop ML algorithms and 200 for subsequent validation. First, a convolutional neural network was developed in order to identify 18 standard echocardiographic views and classify them based on 8 thematic groups (stacks). The results of automatic identification were compared to classification by experts. Later, ML algorithms were developed to automatically measure 16 Doppler scan parameters for regular clinical evaluation, which were compared to measurements by an expert reader. Finally, we compared the time required to complete the analysis of an echocardiographic test using conventional manual methods with the time needed when using the ML model to classify images and perform initial echocardiographic measurements. Inter- and intra-observer variability was also analyzed. Results: Automatic view classification was possible in less than 1 second per test, with a 90% accuracy for 2D images and a 94% accuracy for Doppler scan images. Stacking images had a 91% accuracy, and it was possible to complete the groups with any necessary images in 99% of cases. Expert agreement was outstanding, with discrepancies similar to those found between two human readers. Applying ML to echocardiographic imaging classification and measurement reduced time of analysis by 41% and showed lower variability than conventional reading methods. Conclusion: Application of ML techniques may significantly improve reproducibility and efficiency of echocardiographic interpretations and measurements. Using this type of technologies in clinical practice may lead to reduced costs and increased medical staff satisfaction.

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La anomalía de Ebstein es una cardiopatía congénita rara y poco frecuente caracterizada por el adosamiento de los velos valvulares tricuspídeos; en la etapa prenatal se estima que su incidencia corresponde a un 3% de todas las cardiopatías diagnosticadas. Se presenta el caso de un feto con diagnóstico de anomalía de Ebstein a quien se le realizó un diagnóstico prenatal adecuado, lo que permitió planificar el nacimiento neonatal con un equipo multidisciplinario integral. Debido a la rareza del diagnóstico prenatal de esta entidad, se describe el caso clínico y los hallazgos imagenológicos representativos.

Ebsteins anomaly is a rare and infrequent congenital heart disease characterized by the attachment of the tricuspid valve leaflets; in the prenatal stage it is estimated that its incidence corresponds to 3% of all diagnosed heart diseases. We present the case of a fetus diagnosed with Ebsteins anomaly who underwent an adequate prenatal diagnosis, which made it possible to plan the neonatal birth with a comprehensive multidisciplinary team. Due to the rarity of the prenatal diagnosis of this entity, the clinical case and the representative imaging findings are described.

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Resumo Fundamento: Seguimento de coorte retrospectiva de 30 anos que se aproxima da história natural dos tumores cardíacos diagnosticados no feto uma vez que nenhum caso foi submetido à interrupção da gestação. Objetivo: Avaliar a morbidade e mortalidade perinatal e em longo prazo em fetos com diagnóstico de tumor cardíaco. Como objetivo secundário avaliar os fatores que influenciaram os resultados perinatais e pós-natais. Método: Estudo de coorte retrospectiva envolvendo 74 gestantes com diagnóstico ecocardiográfico fetal de tumor cardíaco acompanhadas em dois serviços de referência no período de maio de 1991 a novembro de 2021. Foi realizada análise descritiva dos dados por meio de frequências absolutas (n) e relativas (%), mediana e intervalos interquartis. Para avaliar a associação entre as características ecocardiográficas e as manifestações clínicas com os resultados perinatais e pós-natais, foi aplicado o teste exato de Fisher. O cálculo da sobrevida global foi realizado pelo método de Kaplan-Meier e a comparação de curvas pelo teste de log-rank. O tempo de seguimento, calculado em meses, foi definido a partir da data de alta do hospital à data do status atual (vivo/censura ou óbito). O nível de significância considerado foi de 5% (p<0,05). Resultados: o rabdomioma é o tipo mais frequente (85%) de tumor cardíaco; apresenta alta morbidade (79,3%) e mortalidade geral de 17,4%; a presença de hidropisia fetal preditiva de óbito. Conclusão: A presença de hidropisia fetal teve impacto na mortalidade, sendo fator importante para aconselhamento e estabelecimento de prognóstico. A maioria dos óbitos ocorrem antes da alta hospitalar.

Abstract Background: This was a 30-year retrospective cohort study that approximates closely to the natural history of cardiac tumors diagnosed in the fetus, since there was no case of pregnancy interruption Objective: To assess morbidity and mortality in the perinatal period and at long term in fetuses diagnosed with cardiac tumor. Our secondary objective was to assess the evaluating factors of perinatal and postnatal results. Methods: This was a retrospective cohort study with 74 pregnant women with an echocardiographic diagnosis of fetal cardiac tumor at two referral centers between May 1991 and November 2021. A descriptive analysis was performed, and data were expressed as absolute (n) and relative (%) frequencies, median and interquartile range. Fisher's exact test was used to evaluate the association of echocardiographic characteristics and clinical manifestations with perinatal and postnatal results. Global survival was calculated using the Kaplan-Meier method and the curves were compared by the log-rank test. The time of follow-up, calculated in months, corresponded to the time elapsed from hospital discharge to current status (survived/ censoring or death). The level of significance was set at 5% (p<0.05). Results: Rhabdomyoma is the most common type of cardiac tumor (85%), with a high morbidity (79.3%) and overall mortality of 17.4%. The presence of fetal hydrops was a predictor of death. Conclusion: The presence of fetal hydrops had an impact on mortality, and hence is an important factor in counselling and determining the prognosis. Most deaths occurred before hospital discharge.

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Resumo Os fibroelastomas são o segundo tumor cardíaco benigno mais comum. São estruturas pequenas, avasculares, com uma dimensão média de 9mm, podendo atingir até 70mm, habitualmente aderentes à superfície das válvulas cardíacas (válvulas aórtica e mitral são as mais comumente afetadas, seguidas das válvulas tricúspide e pulmonar). A etiologia não é clara, sendo a hipótese de formação de microtrombos nas margens de coaptação das válvulas a mais aceite. Na ecocardiografia apresentam aspeto pediculado, móvel, com superfície filamentosa, tipicamente com uma aparência pontilhada nas margens e ecolucente. Do ponto de vista clínico, podem estar associados a fenómenos embólicos, no entanto, na maioria dos casos o diagnóstico é incidental. Apresentamos de seguida quatro casos de diagnóstico incidental de fibroelastomas nas quatro válvulas cardíacas, diagnosticados por ecocardiograma transtorácico (ETT) (Vídeo 1; Figura 1). Vídeo 1 Da esquerda para a direita, de cima para baixo: fibroelastomas no folheto anterior da válvula tricúspide, folheto anterior da válvula mitral, cúspide esquerda da válvula pulmonar e cúspide esquerda da válvula aórtica, cada um correspondendo a um doente diferente. Em: http://abccardiol.org/supplementary-material/2024/12102/2023-0222_IM_video01.mp4 Figura 1 Da esquerda para a direita, de cima para baixo: fibroelastomas no folheto anterior da válvula tricúspide, folheto anterior da válvula mitral, cúspide esquerda da válvula pulmonar e cúspide esquerda da válvula aórtica, cada um correspondendo a um doente diferente.

Abstract Fibroelastomas are the second most common benign cardiac tumor1. They are small avascular structures with a mean size of 9mm, ranging up to 70mm, usually attached to the heart valves' surface (aortic and mitral are the most affected, followed by tricuspid and pulmonary valves). Their etiology is unclear, but the hypothesis of coalescence of microthrombus at the coaptation margins of valves is the most widely accepted theory. On echocardiography, they are pedicled, mobile, with a filamentous surface, and usually have a speckled appearance with echolucencies and a stippled pattern near the edges. Clinically, they may be associated with embolic phenomena; however, in most cases, the diagnosis is incidental. We present a series of four clinical cases with an incidental diagnosis of fibroelastomas across the four cardiac valves as assessed by transthoracic echocardiography (Video 1; Figure 1). Video 1 From left to right and top to bottom: fibroelastomas of the anterior leaflet of the tricuspid valve, anterior leaflet of the mitral valve, left cusp of the pulmonary valve and left cuspid of the aortic valve, each corresponding to a different patient. Link: http://abccardiol.org/supplementary-material/2024/12102/2023-0222_IM_video01.mp4 Figure 1 From left to right and top to bottom: fibroelastomas of the anterior leaflet of the tricuspid valve, anterior leaflet of the mitral valve, left cusp of the pulmonary valve and left cuspid of the aortic valve, each corresponding to a different patient.