Avaliação Cintilográfica e Ecocardiográfica em Portadores de Variantes Patogênicas ou Provavelmente Patogênicas do Gene TTR sem Envolvimento Cardíaco Manifesto / Scintigraphic and Echocardiographic Study of Patients with Pathogenic or Probably Pathogenic Variants of the TTR Gene without Overt Cardiac Involvement

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.

Prevalencia, caracterización y pronóstico de pacientes con sospecha de insuficiencia cardíaca en atención primaria de salud en Chile

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.

Papel da Rigidez Aórtica na Previsão da Resposta aos Inibidores da Fosfodiesterase-5 no Tratamento da Disfunção Erétil / Role of Aortic Stiffness in Predicting Response to Phosphodiesterase-5 Inhibitors in the Treatment of Erectile Dysfunction

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.

Optimización de la interpretación de ecocardiogramas con la utilización de Machine Learning en el estudio WASE / Optimizing Echocardiograms Interpretation with the Application of Machine Learning in the WASE Study

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.

Anomalía de Ebstein: a propósito de un caso

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.

Resultados Perinatais e Seguimento em Longo Prazo de Tumores Cardíacos Fetais: Estudo de Coorte Histórica de 30 Anos / Perinatal Results and Long-Term Follow-Up of Fetal Cardiac Tumors: A 30-Year Historical Cohort Study

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.

Miocarditis inducida por Clozapina: Revisión y protocolo de Screening

Clozapina, el gold standard en esquizofrenia refractaria, presenta algunos efectos adversos que ocasionalmente pueden ser graves. Entre ellos, la miocarditis precoz es un efecto cardiovascular severo poco frecuente que puede aparecer en las primeras 4-6 semanas. Las cifras de incidencia oscilan entre el 0,015-0.188% en el mundo, siendo más altas en Australia. La etiología es desconocida, postulándose hipersensibilidad mediada por Ig E; hipereosinofilia y hiperadrenergia. Múltiples investigaciones avalan a la ecocardiografía como una de las técnicas más útiles para el diagnóstico. La biopsia endomiocárdica es definitoria pero no viable. Existen, asimismo, criterios de RNM indicativos de inflamación miocárdica. Para facilitar el diagnóstico, se han propuesto criterios clínicos y analíticos de screening (hemograma, ECG, CK, PCR, troponinas). En caso de sospecha de miocarditis, el cese de clozapina y el tratamiento de soporte es la actitud a seguir, habitualmente con buenos resultados.

Although Clozapine is the gold standard treatment in resistant-schizophrenia, severe or even life-threatening adverse effects must be taked into account. Early myocarditis, a severe but unusual cardiovascular effect, can appear in the first 4-6 weeks of initiation. Incidence rates of myocarditis are about 0,015-0,188% around the world, being more elevated in Australia. Aethiology is unknown, suggesting Ig E mediated hipersensibility, hiperaeosinophilia and hiperadrenergy. Echocardiography seems to be one of the most helpful tools for diagnosing myocarditis. Endomyocardial biopsy is definitive, but not usually available. A role for cardiac magnetic resonance imaging (MRI) also has been proposed (findings of inflammation). In order to make an early diagnosis, several screening-criteria, considering clinical and laboratory ones, have been proposed: aeosinophylia, creatininkinase, C Reactive Proteine, troponin, and EKG. If we suspected clozapine-induced myocarditis, the drug must be removed and support medical treatment must be indicated.

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.

Fibroelastoma, uma Doença Incidentaloma? - Imagem de Casos de Fibroelastomas como Achados Incidentais em Quatro Pacientes, Quatro Valvas Diferentes / Fibroelastoma, an Incidentaloma Disease? - Image Cases of Fibroelastomas as Incidental Findings in Four Patients, Four Different Valves

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.

Sarcoma sinovial primario de pericardio / Primary pericardial synovial sarcoma

Resumen El sarcoma sinovial primario del pericardio es un tumor muy raro y de mal pronóstico y se sabe poco en cuanto al manejo terapéutico. Presentamos el caso de una paciente de 51 años a quien se le realizó resección quirúrgica incompleta, quimioterapia y radioterapia. Hasta donde sabemos, este es el primer caso de un sarcoma sinovial primario de pericardio que luego de operado se mantuvo asintomático durante 5 años hasta que en una TAC de control se le detectaron metástasis cardiacas que comprometían las cavidades derechas y con quimioterapia, la ecocardiografía demostró la reso lución completa de las mismas.

Abstract Primary pericardial synovial sarcoma is an extraor dinarily very rare tumor with a poor prognosis, and little is known about its therapeutic management. We describe the case of a 51-year-old woman patient who underwent incomplete surgical resection, chemotherapy, and radiotherapy. To the best of our knowledge, no pri mary pericardial synovial sarcoma has been described which, after surgery, remains asymptomatic for 5 years, and until a control CT scan detects cardiac metastases that compromised the lumen of the right cavities and with chemotherapy, echocardiography demonstrated complete resolution of cardiac metastases.

Origen aórtico anómalo de las arterias coronarias / Abnormal aortic origin of coronary arteries

Resumen Introducción: El origen aórtico anómalo de las arterias coronarias tiene una prevalencia estimada del 0.02-5.7% y están potencialmente involucradas con complicaciones en su evolución natural o aquellos que requieran procedimientos intervencionistas hemodinámico y/o quirúrgicos. Puede asociarse a muerte súbita o dañarse durante intervenciones sobre el anillo mitral, aórtico, pulmonar o el cierre percutáneo de un defecto septal interauricular. Objetivo: identificar estos pacientes por diferentes técnicas de imágenes como el ecocardiograma Doppler color transtorácico (ETT), angiotomografía o angiografía coronaria. Métodos: Las técnicas de imágenes utilizadas para la detección de anomalías coronarias fueron el ETT, angiotomografía coronaria multicorte o angiografía coronaria convencional de acuerdo con lo universalmente aceptado. Resultados: Estudio prospectivo realizado desde enero del 2020 a junio del 2021. Se identificaron 15 pacientes y en 12/15 la sospecha fue por ETT y en los tres restantes por angiotomografía coronaria. La arteria circunfleja fue la más involucrada en forma aislada o asociada a otra anomalía coronaria (12/15 pacientes) y en los tres casos restantes la coronaria anómala tuvo un trayecto interarterial, siendo las arterias coronarias derecha y la descendente anterior las afectadas. Conclusiones: El subdiagnóstico por ETT de las anomalías de las arterias coronarias puede deberse a la dificultad para su visualización, sobre todo en la población adulta. Su detección es crucial, ya que puede generar muerte súbita asociada a isquemia miocárdica y arritmias graves o complicar procedimientos intervencionistas sobre el septum interauricular o sobre los anillos mitral, pulmonar y/o aórtico.

Abstract Introduction: The anomalous aortic origin of the coronary arteries has an estimated prevalence of 0.02-5.7%. It can be associated with sudden death when it has an interarterial or intramural pathway or be damaged during interventions on the mitral, pulmonary and/or aortic annulus or percutaneous closure of an interatrial septal defect. Objective: To identify these patients by imaging techniques such as transthoracic color Doppler echocardiography (TTE), computed tomography (CT) multislice angiography or coronary angiography. Methods: The imaging techniques used for the detection of coronary anomalies were TTE, multislice coronary angiography or coronary angiography according to what is generally accepted. Results: Fifteen patients were identified; in 12 of them the suspicion was due to TTE and in the remaining 3, CT multislice angiography was diagnostic. The circumflex artery was the coronary artery most involved, associated or not with another coronary anomaly (12/15 patients) and in the other three cases, the anomalous coronary artery had an interarterial course, with the right coronary arteries and the anterior descending coronary arteries being involved. Conclusions: The under diagnosis by TTE of coronary artery abnormalities may be due to the difficulty of visualization that is accentuated with age. Their detection is crucial because they can both, lead to sudden death associated with an intramural and/or interarterial pathway and complicate an interventional procedure on the interatrial septum or within the mitral, pulmonary and/or aortic rings.

Candida parapsilosis endocarditis without vegetations at Echocardiography: a case report / Endocarditis por Candida parapsilosis sin vegetaciones ecocardiográficas: Un reporte de caso

ABSTRACT Candida endocarditis is a very serious manifestation of candida infections, and it has increased in incidence over the past years. Of these, C. parapsilosis has been described as a cause of endocarditis in native valves of intravenous drug users and prosthetic valves. We report the case of a female that developed a cerebrovascular accident secondary to emboli from aortic prosthetic valve C. parapsilosis endocarditis, despite apparently normal echocardiography. She received antifungal therapy without surgical intervention.

RESUMEN La endocarditis por Candida spp. es una manifestación muy grave de las infecciones por este patógeno y su incidencia ha ido aumentando en los últimos años. La Candida parapsilosis se ha descrito como causa de endocarditis en válvulas nativas de usuarios de drogas intravenosas y prótesis valvulares. Presentamos el caso de una mujer que desarrolló un accidente cerebrovascular secundario a émbolos fúngicos procedentes de una prótesis valvular aórtica infectada por C. parapsilosis, a pesar de un ecocardiograma sin vegetaciones. La paciente recibió tratamiento antifúngico sin necesidad de intervención quirúrgica.

Prenatal diagnosis of hypoplastic left heart syndrome: current knowledge / Diagnóstico pré-natal da síndrome hipoplásica do coração esquerdo: conhecimentos atuais

Abstract Hypoplastic left heart syndrome (HLHS) is characterized by underdevelopment of the left-sided heart structures. The prenatal diagnosis of this congenital heart disease is crucial because a newborn with undiagnosed HLHS often presents with clinical signs of low cardiac output once the ductus arteriosus begins to close. With that in mind, the aim of this article was to perform a non-systematic review focusing on the key ultrasound features that can be used in the prenatal diagnosis of HLHS. Severe forms of HLHS are characterized by a markedly abnormal four-chamber view of the fetal heart (small left atrium, hypoplastic left ventricle, or abnormal mitral valve). The left ventricular outflow tract view allows the degree of hypoplasia in the tract to be evaluated and the diameter of the ascending aorta to be measured. The Z-scores are intended to aid in the diagnosis and follow-up of HLHS. In mild forms of HLHS, a right ventricle/left ventricle length ratio > 1.28 was the strongest predictor of a univentricular outcome.

Resumo A síndrome do coração esquerdo hipoplásico (SCEH) é caracterizada pelo subdesenvolvimento das estruturas cardíacas do lado esquerdo. O diagnóstico pré-natal dessa cardiopatia congênita é crucial, uma vez que recém-nascido com SCEH não diagnosticado apresenta, frequentemente, sinais clínicos de baixo débito cardíaco, quando o canal arterial começa a se fechar. Por isso, o objetivo deste artigo foi realizar uma revisão não sistemática sobre as principais características ultrassonográficas que podem ser usadas no diagnóstico pré-natal da SCEH. As formas graves de SCEH são caracterizadas por plano de quatro câmaras marcadamente anormal (átrio esquerdo pequeno, ventrículo esquerdo hipoplásico, válvula mitral anormal) do coração fetal. A visualização da via de saída do ventrículo esquerdo permite a avaliação do grau de hipoplasia dessa via e a mensuração da aorta ascendente. Os escores Z têm como objetivo auxiliar no diagnóstico e acompanhamento da SCEH. Nas formas leves da SCEH, a relação comprimento do ventrículo direito/comprimento do ventrículo esquerdo > 1,28 foi a variável mais forte para identificar o desfecho univentricular.

Looking for a definition of aortic dilatation in overweight and obese individuals: body surface area-indexed values versus height-indexed diameters / En búsqueda de la definición de dilatación aórtica en individuos con sobrepeso y obesidad: rol de la indexación por altura. Análisis del Registro MATEAR

Abstract Introduction: Patient's body size is a significant determinant of aortic dimensions. Overweight and obesity underestimate aortic dilatation when indexing diameters by body surface area (BSA). We compared the indexation of aortic dimensions by height and BSA in subjects with and without overweight to determine the upper normal limit (UNL). Methods: The MATEAR study was a prospective, observational, and multicenter study (53 echocardiography laboratories in Argentina). We included 879 healthy adult individuals (mean age: 39.7 ± 11.4 years, 399 men) without hypertension, bicuspid aortic valve, aortic aneurysm, or genetic aortopathies. Echocardiograms were acquired and proximal aorta measured at the sinus of Valsalva (SV), sinotubular junction (STJ), and ascending aorta (AA) levels (EACVI/ASE guidelines). We compared absolute and indexed aortic diameters by height and BSA between groups (men with body mass index [BMI] < 25 and BMI ≥ 25, women with BMI < 25 and BMI ≥ 25). Results: Indexing of aortic diameters by BSA showed significantly lower values in overweight and obese subjects compared to normal weight in their respective gender (for women: SV 1.75 cm/m2 in BMI < 25 vs. 1.52 cm/m2 in BMI between 25 and 29.9 vs. 1.41 cm/m2 in BMI ≥ 30; at the STJ: 1.53 cm/m2 vs. 1.37 cm/m2 vs. 1.25 cm/m2; and at the AA: 1.63 cm/m2 vs. 1.50 cm/m2 vs. 1.37 cm/m2; all p < 0.0001 and for men, all p < 0.0001). These differences disappeared when indexing by height in both gender groups (all p = NS). Conclusion: While indexing aortic diameters by BSA in obese and overweight subjects underestimate aortic dilation, the use of aortic height index (AHI) yields a similar UNL for individuals with normal weight, overweight, and obesity. Therefore, AHI could be used regardless of their weight.

Resumen Introducción: El tamaño corporal es un determinante significativo de las dimensiones aórticas. El sobrepeso lleva a subestimar la dilatación aórtica. La altura (A) permanece estable durante la adultez, por lo que sería útil para indexar diámetros aórticos en pacientes obesos, aunque desconocemos los valores normales. Comparamos la indexación de diámetros aórticos por (IA) y superficie corporal (SC) en sujetos con y sin sobrepeso para determinar el límite superior normal (LSN, P97.5). Método: Se realizó un registro nacional, prospectivo, en 53 centros de Argentina. Se realizaron ecocardiogramas a 528 sujetos con índice de masa corporal (IMC) > 25 y 351 sujetos con IMC ≤ 25 seleccionados al azar. La población se subdividió en cuatro grupos según sexo e IMC y se compararon diámetros aórticos absolutos e indexados. Resultados: Se incluyeron 879 individuos (39.7 ± 11.4 años, 399 hombres). La indexación de los diámetros aórticos por SC mostró valores significativamente más bajos en sujetos con sobrepeso y obesidad en comparación con los de peso normal en cada sexo. Estas diferencias desaparecieron al indexar por altura en ambos géneros (todos p = NS). El LSN de los diámetros IA fue de 2.20 cm/m para senos, 1.99 cm/m para unión sino-tubular (UST) y 2.09 cm/m para aorta ascendente. Conclusiones: La indexación de los diámetros aórticos por SC en individuos con sobrepeso y obesidad subestima la dilatación aórtica. El IA permite establecer un LSN sin tener en cuenta el aumento espurio de la SC determinado por la grasa corporal. Podría ser utilizado en ambos sexos y de manera independiente del peso.

Métodos diagnósticos cardiovasculares en pacientes con diabetes mellitus. Revisión / Cardiovascular diagnostic methods in patients with diabetes mellitus. A review

Resumen Las enfermedades cardiovasculares constituyen la causa más común de mortalidad en el mundo. Actualmente, la diabetes mellitus tipo 2 (DM2) representa uno de los principales factores de riesgo de eventos adversos cardiovasculares mayores. Los pacientes que las padecen tienen un riesgo cuatro veces mayor de desarrollar insuficiencia cardíaca y una mortalidad de 10 a 12 veces mayor. La ecocardiografía en todas sus modalidades es la mejor herramienta clínica para el diagnóstico de la insuficiencia cardíaca, ya que proporciona imágenes estáticas y dinámicas del corazón que permiten identificar cambios estructurales y funcionales, como alteraciones en las presiones, cambios de flujo, fracción de expulsión del ventrículo izquierdo y remodelación anatómica de las superficies miocárdicas.

Abstract Cardiovascular diseases are the most common cause of mortality in the world. Currently, type 2 diabetes mellitus (T2DM) is one of the main risk factors for major adverse cardiovascular events. T2DM patients have a four-fold higher risk of developing heart failure and 10 to 12 times higher mortality. Echocardiography in all its modalities is the best clinical tool for heart failure diagnosis, since it provides static and dynamic images of the heart that allow to identify structural and functional changes, such as pressure variations, flow changes, left ventricular ejection fraction and myocardial surfaces anatomical remodeling.