A Critical Review of Echocardiographic Findings for Diagnosing Cardiac Amyloidosis

Abstract This article provides a critical review of the diagnostic value of several echocardiographic findings in cardiac amyloidosis (CA). The importance of early and accurate detection of CA is emphasized, considering its challenging diagnosis and the need for a high index of suspicion by clinicians. Echocardiography is often the first choice for imaging assessment of cardiac structure and function when CA is suspected. The article encompasses several conventional echocardiographic features and speckle-tracking echocardiography-derived deformation parameters. Some of these indexes are grouped together to form scores, which can improve the accuracy of diagnosing CA. However, particularly in earlier stages, echocardiography has low specificity to distinguish amyloid from other hypertrophic phenotypes, highlighting the need for correlation with clinical red flags, laboratory tests, and additional cardiac imaging modalities.

Papel do Ecocardiograma na Avaliação do Septo Interatrial e Pesquisa de Forame Oval Patente como Fonte Emboligênica / The Role of Echocardiography in the Assessment of the Interatrial Septum and Patent Foramen Ovale as an Emboligenic Source

Resumo A comunicação do septo atrial (CIA) representa, aproximadamente, de 6%-10% dos defeitos cardíacos congênitos, com incidência de 1 em 1.500 nascidos vivos.1 Forame oval patente (FOP) é mais comum e está presente em mais de 20%-25% dos adultos.2 Síndromes clínicas associadas a CIA e FOP são variáveis, com implicações abrangendo a medicina pediátrica e adulta, neurologia e cirurgia. O interesse adicional na anatomia do septo interatrial (SIA) aumentou substancialmente nas últimas duas décadas, com evolução simultânea dos procedimentos percutâneos envolvendo cardiopatia estrutural do lado esquerdo e procedimentos eletrofisiológicos. Idealmente, essas intervenções baseadas em cateter requerem rota direta para o átrio esquerdo (AE) através do SIA, necessitando completo entendimento de sua anatomia. Atualmente, tecnologias de imagem sofisticadas e não invasivas como ecocardiografia transesofágica bidimensional (ETE 2D) e tridimensional (ETE 3D), ressonância cardíaca (RMC) e tomografia computadorizada (TC) passaram por um extraordinário desenvolvimento tecnológico, fornecendo detalhes anatômicos das estruturas cardíacas visualizadas em formato 2D e 3D e são essenciais para diagnóstico e tratamento de pacientes com doenças cardíacas. A avaliação da anatomia e anormalidades do SIA, portanto, requer abordagem padronizada e sistemática, integrando modalidades diagnósticas e fornecendo avaliação adequada e uniforme para terapias cirúrgicas e transcateter.

Abstract Atrial septal defects (ASD) account for approximately 6%-10% of congenital heart defects, with an incidence of 1 in 1,500 live births.1 Patent foramen ovale (PFO) is more common and is present in more than 20%-25% of adults.2 Clinical syndromes associated with ASD and PFO are variable, and their implications are targeted by pediatric and adult medicine, neurology, and surgery. Additional interest in the anatomy of the interatrial septum (IAS) has increased substantially over the last two decades. Additionally, percutaneous procedures involving left-sided structural heart disease and electrophysiological procedures have evolved considerably. Ideally, these catheter-based interventions require a direct route to the left atrium (LA) through the IAS, with a full understanding of its anatomy. Also, sophisticated and noninvasive imaging technologies such as two-dimensional transesophageal echocardiography (2D-TEE) and three-dimensional transesophageal echocardiography (3D-TEE), cardiac magnetic resonance imaging (CMR), and computed tomography (CT) have evolved considerably, providing anatomical details of cardiac structures visualized in 2D and 3D format and being key for the diagnosis and treatment of patients with heart diseases. Therefore, assessing the anatomy of the IAS and any abnormalities requires a standardized and systematic approach, integrating diagnostic modalities and enabling adequate and consistent evaluation for both surgical and transcatheter therapies.

Análise Crítica e Limitações do Diagnóstico de Insuficiência Cardíaca com Fração de Ejeção Preservada (ICFEp) / Critical Analysis and Limitations of the Diagnosis of Heart Failure with Preserved Ejection Fraction (HFpEF)

Resumo Com o aumento da expectativa de vida da população e a maior frequência de fatores de risco como obesidade, hipertensão arterial e diabetes, espera-se um aumento na prevalência de insuficiência cardíaca com fração de ejeção preservada (ICFEp). Entretanto, no momento, o diagnóstico e o tratamento de pacientes com ICFEp permanecem desafiadores. O diagnóstico sindrômico de ICFEp inclui diversas etiologias e doenças com tratamentos específicos, mas que apresentam pontos em comum em relação à apresentação clínica e à avaliação laboratorial no que diz respeito aos biomarcadores como BNP e NT-ProBNP, à avaliação ecocardiográfica do remodelamento cardíaco e às pressões de enchimento diastólico ventricular esquerdo. Extensos ensaios clínicos randomizados envolvendo a terapia nesta síndrome falharam na demonstração de benefícios para o paciente, fazendo-se necessária uma reflexão acerca do diagnóstico, dos mecanismos de morbidade, da taxa de mortalidade e da reversibilidade. Na revisão, serão abordados os conceitos atuais, as controvérsias e, especialmente, os desafios no diagnóstico da ICFEp através de uma análise crítica do escore da European Heart Failure Association.

Abstract With the increase in the population's life expectancy and the higher frequency of risk factors such as obesity, hypertension and diabetes, an increase in the prevalence of heart failure with preserved ejection fraction (HFpEF) is expected. However, to date, the diagnosis and treatment of patients with HFpEF remain challenging. The syndromic diagnosis of HFpEF includes several etiologies and diseases with specific treatments but has points in common regarding the clinical presentation, laboratory evaluation related to biomarkers, such as BNP and NT-ProBNP, and echocardiographic evaluation of cardiac remodeling and left ventricular diastolic filling pressures. Extensive randomized clinical trials involving the treatment of this condition have failed to demonstrate benefits to the patient, making it necessary to reflect on the diagnosis, mechanisms of morbidity, mortality and reversibility in this syndrome. In this review, the current concepts, controversies and challenges, especially regarding diagnosis, will be addressed, critically analyzing the European Heart Failure Association score for the diagnosis of HFpEF.

Perfil Clínico, Laboratorial e de Métodos de Imagem na Amiloidose Sistêmica em um Centro de Referência Cardiológico Brasileiro / Clinical, Laboratory, and Imaging Profile in Patients with Systemic Amyloidosis in a Brazilian Cardiology Referral Center

Resumo Fundamento Amiloidose sistêmica é uma doença com manifestações clínicas diversas. O diagnóstico envolve suspeita clínica, aliada a métodos complementares. Objetivo Descrever o perfil clínico, laboratorial, eletrocardiográfico e de imagem no acometimento cardíaco da amiloidose sistêmica. Métodos Estudo de uma amostra de conveniência, analisando dados clínicos, laboratoriais, eletrocardiográficos, ecocardiográficos, medicina nuclear e ressonância magnética. Considerou-se significância estatística quando p < 0,05. Resultados Avaliaram-se 105 pacientes (com mediana de idade de 66 anos), sendo 62 homens, dos quais 83 indivíduos apresentavam amiloidose por transtirretina (ATTR) e 22 amiloidose por cadeia leve (AL). Na ATTR, 68,7% eram de caráter hereditário (ATTRh) e 31,3% do tipo selvagem (ATTRw). As mutações mais prevalentes foram Val142Ile (45,6%) e Val50Met (40,3%). O tempo de início dos sintomas ao diagnóstico foi 0,54 e 2,15 anos nas formas AL e ATTR (p < 0,001), respectivamente. O acometimento cardíaco foi observado em 77,9% dos ATTR e 90,9% dos AL. Observaram-se alterações de condução atrioventricular em 20% e intraventricular em 27,6% dos pacientes, sendo 33,7 % na ATTR e 4,5% das AL (p = 0,006). A forma ATTRw apresentou mais arritmias atriais que os ATTRh (61,5% x 22,8%; p = 0,001). Ao ecocardiograma a mediana da espessura do septo na ATTRw x ATTRh x AL foi de 15 mm x 12 mm x 11 mm (p = 0,193). Observou-se BNP elevado em 89,5% dos indivíduos (mediana 249 ng/mL, IQR 597,7) e elevação da troponina em 43,2%. Conclusão Foi possível caracterizar, em nosso meio, o acometimento cardíaco na amiloidose sistêmica, em seus diferentes subtipos, através da história clínica e dos métodos diagnósticos descritos.

Abstract Background Systemic amyloidosis is a disease with heterogeneous clinical manifestations. Diagnosis depends on clinical suspicion combined with specific complementary methods. Objective To describe the clinical, laboratory, electrocardiographic, and imaging profile in patients with systemic amyloidosis with cardiac involvement. Methods This study was conducted with a convenience sample, analyzing clinical, laboratory, electrocardiographic, echocardiographic, nuclear medicine, and magnetic resonance data. Statistical significance was set at p < 0.05. Results A total of 105 patients were evaluated (median age of 66 years), 62 of whom were male. Of all patients, 83 had transthyretin (ATTR) amyloidosis, and 22 had light chain (AL) amyloidosis. With respect to ATTR cases, 68.7% were the hereditary form (ATTRh), and 31.3% were wild type (ATTRw). The most prevalent mutations were Val142Ile (45.6%) and Val50Met (40.3%). Time from onset of symptoms to diagnosis was 0.54 and 2.15 years, in the AL and ATTR forms, respectively (p < 0.001). Cardiac involvement was observed in 77.9% of patients with ATTR and in 90.9% of those with AL. Alterations were observed in atrioventricular and intraventricular conduction in 20% and 27.6% of patients, respectively, with 33.7% in ATTR and 4.5% in AL (p = 0.006). In the ATTRw form, there were more atrial arrhythmias than in ATTRh (61.5% versus 22.8%; p = 0.001). On echocardiogram, median septum thickness in ATTRw, ATTRh, and AL was 15 mm, 12 mm, and 11 mm, respectively (p = 0.193). Elevated BNP was observed in 89.5% of patients (median 249, ICR 597.7), and elevated troponin was observed in 43.2%. Conclusion In this setting, it was possible to characterize cardiac involvement in systemic amyloidosis in its different subtypes by means of clinical history and the diagnostic methods described.

Pericardial Effusion and Cardiac Tamponade: Etiology and Evolution in the Contemporary Era

Abstract Background: Pericardial effusion is a relatively common finding and can progress to cardiac tamponade; etiological diagnosis is important for guiding treatment decisions. With advances in medicine and improvement in the social context, the most frequent etiological causes have changed. Objectives: To evaluate the clinical and laboratory characteristics, etiology, and clinical course of patients with pericardial effusion and cardiac tamponade. Materials and methods: Patients with pericardial effusion classified as small (< 10 mm), moderate (between 10-20 mm), or severe (> 20 mm) were included. Data from the clinical history, physical examination, laboratory tests, and complementary tests were evaluated in patients with pericardial effusion and cardiac tamponade. The significance level was set at 5%. Results: A total of 254 patients with a mean age of 53.09 ± 17.9 years were evaluated, 51.2% of whom were female. A total of 40.4% had significant pericardial effusion (> 20 mm). Pericardial tamponade occurred in 44.1% of patients. Among pericardial effusion patients without tamponade, the most frequent etiologies were: idiopathic (44.4%) and postsurgical (17.6%), while among those with tamponade, the most frequent etiologies were postsurgical (21.4%) and postprocedural (19.6%). The mean follow-up time was 2.2 years. Mortality was 42% and 23.2 in those with and without tamponade, respectively (p=0.001). Conclusions: There is an etiological difference between pericardial effusion patients with and without cardiac tamponade. An idiopathic etiology is more common among those without tamponade, while postinterventional/postsurgical is more common among those with tamponade. The tamponade group had a higher mortality rate.

Cardiac amyloidosis: non-invasive diagnosis

SUMMARY Cardiac amyloidosis is an infiltrative disease which requires a high degree of clinical suspicion for appropriate diagnosis. Early diagnosis and the definition of the type of amyloidosis play a key role in the early treatment and prognosis of this disease. In this context, the use of cardiac biomarkers such as troponins and NT-proBNT associated with analysis by multimodality imaging methods like echocardiographic techniques such as strain, nuclear medicine, and cardiovascular resonance imaging have an increasing role in patients with cardiac amyloidosis. This article details the role of non-invasive diagnostic methods in patients with cardiac amyloidosis.

RESUMO A amiloidose cardíaca é uma doença infiltrativa que exige um alto grau de suspeição clínica para o diagnóstico apropriado. O diagnóstico precoce e a definição do subtipo de amiloidose têm um papel fundamental para a terapêutica e prognóstico desta doença. Nesse contexto, o emprego de biomarcadores cardíacos como as troponinas e NT-proBNT associados à análise por métodos de imagem multimodalidade por técnicas ecocardiográficas atuais como o strain, medicina nuclear e a ressonância magnética cardíaca têm papel crescente em pacientes com amiloidose. Este artigo detalha a utilização dos métodos não invasivos para a avaliação de pacientes com amiloidose cardíaca.

Dobutamine Stress Echocardiography Safety in Chagas Disease Patients / Segurança do Ecocardiograma sob Estresse com Dobutamina-Atropina em Pacientes com Doença de Chagas

Abstract Background: A few decades ago, patients with Chagas disease were predominantly rural workers, with a low risk profile for obstructive coronary artery disease (CAD). As urbanization has increased, they became exposed to the same risk factors for CAD of uninfected individuals. Dobutamine stress echocardiography (DSE) has proven to be an important tool in CAD diagnosis. Despite being a potentially arrhythmogenic method, it is safe for coronary patients without Chagas disease. For Chagas disease patients, however, the indication of DSE in clinical practice is uncertain, because of the arrhythmogenic potential of that heart disease. Objectives: To assess DSE safety in Chagas disease patients with clinical suspicion of CAD, as well as the incidence of arrhythmias and adverse events during the exam. Methods: Retrospective analysis of a database of patients referred for DSE from May/2012 to February/2015. This study assessed 205 consecutive patients with Chagas disease suspected of having CAD. All of them had their serology for Chagas disease confirmed. Results: Their mean age was 64±10 years and most patients were females (65.4%). No patient had significant adverse events, such as acute myocardial infarction, ventricular fibrillation, asystole, stroke, cardiac rupture and death. Regarding arrhythmias, ventricular extrasystoles occurred in 48% of patients, and non-sustained ventricular tachycardia in 7.3%. Conclusion: DSE proved to be safe in this population of Chagas disease patients, in which no potentially life-threatening outcome was found.

Resumo Fundamento: Até poucas décadas atrás, os pacientes chagásicos eram predominantemente trabalhadores rurais, com baixo perfil de risco para doença obstrutiva coronária. Com a crescente urbanização, passaram a ter os mesmos fatores de risco para doença aterosclerótica que indivíduos não infectados. O ecocardiograma sob estresse com dobutamina (EED) é uma importante ferramenta no diagnóstico de coronariopatia. É referido, porém, como um método potencialmente arritmogênico, mas seguro, em pacientes coronarianos não chagásicos. Entretanto, há insegurança na prática clínica de indicá-lo no paciente chagásico, devido ao potencial arritmogênico já intrínseco nesta cardiopatia. Objetivos: Analisar a segurança do EED em uma população de chagásicos com suspeita clínica de coronariopatia. Métodos: Análise retrospectiva de um banco de dados de pacientes encaminhados para a realização do EED entre maio/2012 e fevereiro/2015. Avaliou-se pacientes consecutivos portadores de doença de Chagas e com suspeita de coronariopatia. Confirmou-se a sorologia para doença de Chagas em todos os pacientes. Resultados: A média etária dos 205 pacientes analisados foi de 64 ± 10 anos, sendo a maioria do sexo feminino (65,4%). Nenhum paciente apresentou eventos adversos significativos, como infarto agudo do miocárdio, fibrilação ventricular, assistolia, acidente vascular encefálico, ruptura cardíaca ou morte. Quanto às arritmias, extrassístoles ventriculares frequentes ocorreram em 48% dos pacientes, taquicardia ventricular não sustentada em 7,3%, bigeminismo em 4,4%, taquicardia supraventricular e taquicardia ventricular sustentada em 1% e fibrilação atrial em 0,5%. Conclusão: O EED mostrou ser um exame seguro nessa população de pacientes chagásicos, onde nenhum desfecho grave foi encontrado.

Rare Complication of non-Treated Abdominal Aortic Aneurysm: Extensive Thrombus in Right Cardiac Chambers / Complicação Rara de Aneurisma da Aorta Abdominal não Tratado: Trombo Extenso em Câmaras Cardíacas Direitas

Abstract A 78-year-old patient presented with shortness of breath after falling down. Transthoracic echocardiogram showed an extensive thrombus in the right atrium (RA), extensive thrombosis of the inferior vena cava (IVC), and abdominal aortic aneurysm (AAA). A magnetic resonance confirmed the thrombosis of the RA extending to the IVC, which was apparently fused to the abdominal aortic aneurysm (compression? erosion?). This case illustrates a severe and rare complication of a non-treated AAA. There probably was IVC erosion by the aortic aneurysm, leading to blood stasis and extensive thrombosis of the IVC and right cardiac chambers.

Resumo Uma paciente de 78 anos procurou o serviço de emergência apresentando dispneia após sofrer queda da própria altura. O ecocardiograma transtorácico mostrou um extenso trombo no átrio direito (AD), trombose extensa da veia cava inferior (VCI), e aneurisma de aorta abdominal (AAA). A ressonância magnética confirmou a trombose do AD estendendo-se até a VCI, a qual aparentemente apresentava fusão ao aneurisma da aorta abdominal (compressão? erosão?). Este caso ilustra uma complicação grave e rara de um AAA não tratado. Provavelmente houve uma erosão da VCI pelo aneurisma da aorta resultando em estase sanguínea e trombose extensa da veia cava inferior e cavidades cardíacas direitas.

Prevalência de sintomas e lesões osteoarticulares em ecocardiografistas / Prevalence of symptoms and osteoarticular lesions on Brazilian echocardiographers

Síntomas y lesiones articulares y neuromusculares (SLANM) pueden ocurrir por esfuerzo repetitivo, con elevada prevalencia en técnicos en ecocardiografía. La prevalencia de los SLANM diagnosticados aun es desconocida en ecocardiografistas brasileños. Objetivo:Evaluar la prevalencia de SLANM en cardiólogos brasileños relacionada al trabajo como ecocardiografistas. Métodos: Médicos asociados al Departamento de Imagen Cardiovascular fueron invitados a responder preguntas relacionadas al perfil antropométrico, de trabajo como ecocardiografista, y SLANM. La comparación entre los participantes con (grupo 1) y sin SLANM (grupo 2) fue hecha con el test t no pareado para variables continuas y con Chi-cuadrado para categóricas. Fueron considerados significativos valores de p <0,05. Resultados: De junio de 2014 a junio de 2015, 474 respondieron el cuestionario; de esos, 311 fueron válidos; 248 (80%) fueron del grupo1 (45 ± 9,2 años; 48% mujeres) y 63 (20%), del grupo 2 (43 ± 9,8 años; 29% mujeres). En el grupo 1, el tiempo medio de aparición de los SLANM fue de 6,8 ± 5,3 años a partir del entrenamiento como ecocardiografista; 144(58%) procuraron atención; 126 (88%) requirieron tratamiento; 51 (35%) necesitaron apartamiento temporal; y 5(4%), de cirugía. Los SLANM fueron más frecuentes en los hombros y en los profesionales con más de 10 años de trabajo como ecocardiografista (65%); en el grupo 2 había menos mujeres (p = 0,009). No hubo diferencia entre los grupos en relación a las medidas antropométricas, miembro superior utilizado para el examen (p = 0,25), número de exámenes por semana(p = 0,49), o práctica de actividades físicas(p = 0,91).Conclusión:La prevalencia de SLANM en ecocardiografistas brasileños parece ser elevada. Las mujeres y los profesionales con más de 10 años de ecocardiografía parecen más susceptible.

Introduction: Joint and neuromuscular injuries and symptoms (JNIS) may occur due to repetitive strain, with high prevalence in echocardiography technicians. The prevalence of diagnosed JNIS remains unknown in Brazilian echocardiographers. Objective: Evaluate the prevalence of JNIS in Brazilian cardiologists related to their work as echocardiographers. Methods: Physicians from the Department of Cardiovascular Imaging were asked to answer a questionnaire about their anthropometric profile, their work as echocardiographers, and JNIS. Participants with JNIS (group 1) and without JNIS (group 2) were analyzed as follows: a comparison of continuous variables was made by the unpaired t-test, and a comparison of categorical variables was made by a chi-square test. P values were considered significant if <0.05. Results: From June 2014 to June 2015, 474 answered the questionnaire; of these, 311 were valid; 248 (80%) were in group 1 (45 ± 9.2 years; 48%women) and 63 (20%) in group 2 (43 ± 9.8 years; 29% women). In group 1, the mean time to the onset of JNIS was 6.8 ± 5.3 years as from the start of echocardiography training; 144 (58%) sought care; 126 (88%) required treatment; 51 (35%) required temporary leave; and 5 (4%) underwentsurgery. JNIS were more common on shoulders and in professionals with more than 10 years working as echocardiographers (65%); group 2 had fewer women (p = 0.009). There was no difference between groups in relation to anthropometric measurements; test criteria: upper limb used for the exam(p = 0.25), number of exams per week (p = 0.49), or physical activity (p = 0.91). Conclusion: The prevalence of JNIS in Brazilian echocardiographers seems to be high. Women and professionals with over 10-years’ experience in echocardiography seem more susceptible.

Avaliação ecocardiográfica da função atrial esquerda: aspectos fisiológicos e clínicos / Echocardiographic evaluation of left atrial function: physiological and clinical aspects / Evaluación Ecocardiográfica de la Función Atrial Izquierda: Aspectos Fisiológicos y Clínicos

A avaliação da função atrial esquerda pode proporcionar informações importantes relacionadas à fisiopatologia de muitas cardiopatias, principalmente quando o envolvimento é das cavidades esquerdas. Entretanto, ao contrário das funções sistólica e diastólica do ventrículo esquerdo, amplamente exploradas em muitas condições clínicas, a função do átrio esquerdo é, ainda, pouco estudada.Conceitos básicos das funções de reservatório, de conduto e de bomba do átrio esquerdo são discutidos, destacando as relações com enchimento ventricular. Métodos de investigação dessas funções são apresentados de forma resumida.

La evaluación de la función atrial izquierda puede proporcionar informaciones importantes relacionadas a la fisiopatología de muchas cardiopatías, principalmente cuando el envolvimiento es de las cavidades izquierdas. Mientras tanto, al contrario de las funciones sistólica y diastólica del ventrículo izquierdo, ampliamente exploradas en muchas condiciones clínicas, la función del atrio izquierdo es, aun, poco estudiada.Conceptos básicos de las funciones de depósito, de conducto y de bomba del atrio izquierdo son discutidos, destacando las relaciones con llenado ventricular. Métodos de investigación de esas funciones son presentados de forma resumida...

The evaluation of left atrial function may provide important information regarding the pathophysiology of many heart diseases, especially when the left chambers are involved. However, as opposed to the left ventricular systolic and diastolic functions, widely exploited in many clinical conditions, the left atrial function is still poorly studied. Basic concepts of the functions of left atrial reservoir, conduit and booster pump are discussed, highlighting the connections with ventricular filling. The methods of investigation of these functions are presented in summary form...