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.

Perfis clínicos e genéticos de pacientes com amiloidose transtiretina hereditária e do tipo selvagem: o registro de amiloidose cardíaca transtiretina no Estado de São Paulo, Brasil (REACT-SP) / Clinical and genetic profiles of patients with hereditary and wild-type transthyretin amyloidosis: the transthyretin cardiac amyloidosis registry in the State of São Paulo, Brazil (REACT-SP)

INTRODUÇÃO: A amiloidose transtiretina (ATTR) é uma doença multissistêmica causada pela deposição de proteína fibrilar em órgãos e tecidos. Os genótipos e fenótipos da ATTR são altamente heterogêneos. MÉTODOS: Apresentamos dados sobre sinais e sintomas físicos, avaliações cardíacas e neurológicas, e genética em pacientes incluídos no Registro de Amiloidose Cardíaca Transtiretina no Estado de São Paulo (REACT-SP), Brasil. RESULTADOS: Foram incluídos 644 pacientes, sendo 505 com a forma variante (ATTRv) e 139 com a forma selvagem (ATTRwt). Dezesseis mutações diferentes foram detectadas, sendo as mais comuns Val50Met (48,3%) e V142Ile (40,8%). No geral, mais da metade dos pacientes apresentou envolvimento cardíaco, e a diferença nessa proporção entre os grupos ATTRv e ATTRwt foi significativa (43,9 vs. 89,9%; p<0,001). O fenótipo neurológico também diferiu entre ATTRv e ATTRwt (56,8 vs. 31,7%; p<0,001). O fenótipo misto foi encontrado em 25,6% da população, sem diferença significativa entre as formas de amiloidose. Um grupo de pacientes permaneceu assintomático (10,4%), com uma proporção menor de pacientes assintomáticos no grupo ATTRwt. CONCLUSÕES: Este estudo detalha o espectro clínico e genético de pacientes com ATTR em São Paulo, Brasil. Esta análise preliminar destaca a considerável heterogeneidade fenotípica das manifestações neurológicas e cardíacas em pacientes com ATTR variante e ATTR do tipo selvagem.

Assessment of potential transthyretin amyloid cardiomyopathy cases in the Brazilian public health system using a machine learning mode

OBJECTIVES: To identify and describe the profile of potential transthyretin cardiac amyloidosis (ATTR-CM) cases in the Brazilian public health system (SUS), using a predictive machine learning (ML) model. METHODS: This was a retrospective descriptive database study that aimed to estimate the frequency of potential ATTR-CM cases in the Brazilian public health system using a supervised ML model, from January 2015 to December 2021. To build the model, a list of ICD-10 codes and procedures potentially related with ATTR-CM was created based on literature review and validated by experts. RESULTS: From 2015 to 2021, the ML model classified 262 hereditary ATTR-CM (hATTR-CM) and 1,581 wild-type ATTR-CM (wtATTR-CM) potential cases. Overall, the median age of hATTR-CM and wtATTR-CM patients was 66.8 and 59.9 years, respectively. The ICD-10 codes most presented as hATTR-CM and wtATTR-CM were related to heart failure and arrythmias. Regarding the therapeutic itinerary, 13% and 5% of hATTR-CM and wtATTR-CM received treatment with tafamidis meglumine, respectively, while 0% and 29% of hATTR-CM and wtATTR-CM were referred to heart transplant. CONCLUSION: Our findings may be useful to support the development of health guidelines and policies to improve diagnosis, treatment, and to cover unmet medical needs of patients with ATTR-CM in Brazil.

Resource utilization and costs related to the management of obstructive hypertrophic cardiomyopathy under the Brazilian supplementary healthcare system´s perspective: results from a modified Delphi panel / Utilização de recursos e custos relacionados ao manejo da cardiomiopatia hipertrófica obstrutiva sob a perspectiva do sistema de saúde suplementar brasileiro: resultados de um painel Delphi modificado

Objective: To generate data on the costs associated with the diagnosis and treatment of obstructive ypertrophic cardiomyopathy (HCM) from the perspective of the private health system in Brazil. Methods: A modified Delphi panel including seven different specialists (three clinical cardiologists with experience in obstructive HCM, two hemodynamicists with experience in septal ablation and two cardiac surgeons with expertise in myectomy), from two Brazilian states (São Paulo and Pernambuco), was conducted between August and November 2022. Two rounds of questions about the use of healthcare resources according to the functional class (NYHA I-IV) and a panel in a virtual platform were conducted to obtain the final consensus. Micro-costing defined costs and unit values were determined based on official price lists. Results: The total diagnosis cost per patient was estimated at BRL 11,486.81. The obstructive HCM management costs analysis showed average annual costs per patient of BRL 17,026.74, BRL 19,401.46, BRL 73,310.07, and BRL 94,885.75 for the functional classes NYHA I, NYHA II, NYHA III, and NYHA IV, respectively. The average costs per patient related to procedures in a year were BRL 12,698.53, BRL 13,462.30, BRL 58,841.67, and BRL 75,595.90 for the functional classes NYHA I, II, III, and IV, respectively. Conclusions: The annual costs of HCM management increased according to the functional class, highlighting the need for safe and effective strategies to improve patient's NYHA functional class while promoting a decrease in the need for invasive therapies.

Objetivo: Gerar dados acerca dos custos associados ao diagnóstico e tratamento da cardiomiopatia hipertrófica (CMH) obstrutiva, sob a perspectiva do sistema de saúde privado no Brasil. Métodos: Um painel Delphi modificado incluindo sete especialistas (três cardiologistas clínicos com experiência em CMH obstrutiva, dois hemodinamicistas com experiência em ablação de septo e dois cirurgiões cardíacos com experiência em miectomia) de dois estados brasileiros (São Paulo e Pernambuco) foi conduzido entre agosto e novembro de 2022. Foram realizadas duas rodadas de perguntas acerca da utilização de recursos de acordo com a classe funcional (NYHA I-IV) e uma reunião virtual para obtenção do consenso final. Os custos foram definidos por meio de microcusteio, e os valores unitários foram definidos com base em listas de preço oficiais. Resultados: O custo total do diagnóstico por paciente foi estimado em R$ 11.486,81. A análise de custos de manejo da CMH obstrutiva mostrou custos médios anuais por paciente de R$ 17.026,74, R$ 19.401,46, R$ 73.310,07 e R$ 94.885,75 para as classes funcionais NYHA I, NYHA II, NYHA III e NYHA IV, respectivamente. Os custos médios por paciente relacionados a procedimentos em um ano foram de R$ 12.698,53, R$ 13.462,30, R$ 58.841,67 e R$ 75.595,90 para as classes NYHA I, II, III e IV, respectivamente. Conclusões: Os custos anuais com o manejo da CMH aumentam de acordo com a classe funcional, destacando a necessidade de estratégias seguras e eficazes capazes de melhorar a classe funcional NYHA do paciente, ao mesmo tempo que promove diminuição da necessidade de terapias invasivas.

Using machine learning to assess potential cases of transthyretin cardiac amyloidosis in Brazil: a retrospective database approach

INTRODUCTION: Amyloidosis is a group of protein misfolding disorders leading to organ damage due to insoluble amyloid fibril deposits • The two primary types of cardiac amyloidosis are light-chain amyloid (AL) and transthyretin (TTR) cardiac amyloidosis • TTR amyloidosis can be hereditary (hATTR) or age-related (wtATTR). It is an often-overlooked cause of heart failure in older adults • Recent studies reveal its prevalence in various patient groups: up to 13% in HFpEF, 16% in aortic stenosis patients undergoing valve replacement, 7-8% in carpal tunnel release surgery, and 17% in some other contexts • ATTR-CM is significant in the context of cardiovascular diseases, a leading global cause of death. OBJECTIVE: This study aimed to identify and describe the profile of potential transthyretin cardiac amyloidosis (ATTR-CM) cases in the Brazilian public health system (SUS), using a predictive machine learning (ML) model. MATERIALS AND METHODS: This was a retrospective descriptive database study that aimed to estimate the frequency of potential ATTR-CM cases in the Brazilian public health system (Figure 1) using a supervised machine learning (Figure 2) model, with data extracted from DATASUS outpatient and inpatient datasets from January 2015 to December 2021 • To build the model, a list of ICD-10 codes and procedures potentially related with ATTR-CM was created based on literature review and validated by experts (Figure 3). RESULTS: From 2015 to 2021, the ML model classified 262 hATTR-CM (213 reference hATTR-CIM and 49 hATTR-CM-like) and 1,581 wtATTR-CM (203 reference wtATTR-CM and 1,378 wtATTR-CM-like). Overall, the median age of hATTR-CM and wtATTR-CM patients was 66.8 and 59.9 years, respectively • The ICD-10 codes most presented as hATTR-CM and wtATTR-CM were related to heart failure and arrythmias, with similar procedures performed (Figure 4). Regarding healthcare utilization, hATTR-CM and hATTR-CM-like had similar profiles on proportion of patients with outpatient visits (hATTR-CM 98.0% vs. 92.0% hATTR-CM-like) and different profile related to proportion of hospitalized patients (hATTR-CM 94.4% vs. 32.7% hATTR-CM-like) (Figure 5) • In wtATTR-CM groups, although both proportions on outpatient visits and hospitalizations were similar, the length of stay (LOS) on hospitalizations was different in wtATTR-CM-like (wtATTR-CM median LOS 5.0 (IQR:2.0 - 10.0] vs. median LOS 7.0 [IQR:3.0 - 14.0]). CONCLUSIONS: Our findings may be useful to support decreasing the uncertainties on ATTR-CM population size in Health Technology Assessment appraisals and in the development of healthcare guidelines and policies to address patients' unmet needs and to improve early diagnosis and access to treatment for patients with ATTR-CM in Brazil This study puts a spotlight on the ATTR-CM underdiagnosis in Brazil using a machine learning approach, which can be used as an important tool to support diagnosis improvement.

Rare association between giant-cell aortitis and giant-cell aortic valvulitis

ABSTRACT Giant cell arteritis (GCA) is a type of chronic vasculitis that affects medium and large-caliber arteries, frequently related to aortic involvement and, consequently, to aneurysm formation. However, associated valvulitis with giant cells is uncommon. We describe the case of a 50-year-old female patient with aortic aneurysm and valvular insufficiency, whose anatomopathological examination revealed giant-cell aortic valvulitis associated with giant cell aortitis.

Prótesis Starr-Edwards vigente y funcional por más de 40 años / Starr-Edwards prosthesis current and functional for more than 40 years

INTRODUCCIÓN. Las enfermedades valvulares cardíacas han sido un foco de estudio y de evolución continua, pues existen grupos de pacientes seleccionados en quienes el cambio valvular es parte de su terapéutica. En 1960 surgió el modelo de prótesis de válvula en forma de esfera enjaulada de Albert Starr y Lowell Edwards. El diseño fue perfeccionándose y es usado hasta la actualidad ya que muestra resultados clínicos aceptables. OBJETIVO. Describir el caso de un paciente portador, de uno de los primeros prototipos de prótesis valvular cardiaca metálica Starr-Edwards vigente y funcional por más de 40 años. CASO CLÍNICO. Paciente masculino con prótesis Starr-Edwards en posición aórtica, quien hasta la fecha lleva más de 40 años de uso, mantiene la clase funcional II de la New York Heart Association, realizando anticoagulación con Warfarina así como controles estrictos del índice internacional normalizado. DISCUSIÓN. Es primordial la evaluación y seguimiento de portadores de prótesis valvular para analizar anifestaciones clínicas (disnea) y hallazgos en los exámenes de laboratorio o de imagen (ecografía) para el control clínico y hemodinámica del paciente, con la intención de contemplar circunstancias que podrían determinar la nueva intervención valvular. CONCLUSIONES. Las válvulas metálicas, en particular las del tipo de prótesis de Starr-Edwards presentan alto riesgo trombótico por lo que es recomendable mantener anticoagulación plena evitando valores de índice internacional normalizado muy elevados que podrían crear escenarios de eventos hemorrágicos. Varios pacientes portadores de una de las prótesis más antiguas como es el modelo la prótesis Starr-Edwards, pueden llegar a tener una mejor supervivencia y resultados clínicos aceptables.

INTRODUCTION. Cardiac valve diseases have been a focus of study and continuous evolution, since there are selected groups of patients in whom valve replacement is part of their therapy. In 1960, the caged sphere valve prosthesis model of Albert Starr and Lowell Edwards was developed. The design was refined and is still used today because it shows acceptable clinical results. OBJECTIVE. To describe the case of a patient with one of the first prototypes of Starr- Edwards metallic heart valve prosthesis, which has been in use and functional for more than 40 years. CLINICAL CASE. Male patient with Starr-Edwards prosthesis in aortic position, who to date has been used for more than 40 years, maintains functional class II of the New York Heart Association, performing anticoagulation with Warfarin as well as strict controls of the international normalized index. DISCUSSION. The evaluation and follow-up of valve prosthesis carriers is essential to analyze clinical manifestations (dyspnea) and findings in laboratory or imaging tests (ultrasound) for the clinical and hemodynamic control of the patient, with the intention of contemplating circumstances that could determine the new valve intervention. CONCLUSIONS. Metallic valves, particularly those of the Starr-Edwards prosthesis type, present a high thrombotic risk and it is therefore advisable to maintain full anticoagulation, avoiding very high values of the international normalized index that could create scenarios of hemorrhagic events. Several patients carrying one of the older prostheses, such as the Starr-Edwards prosthesis model, may have better survival and acceptable clinical results.

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.

Registry of transthyretin amyloidosis in the state of São Paulo (REACT-SP) / Registro em amiloidose transtirretina do estado de São Paulo (REACT-SP)

BACKGROUND: Amyloidosis is a systemic disease that involves multiple organs, characterized by the deposition of amyloid fibrils. Knowledge regarding the epidemiological, clinical, and genetic profile of the population affected by amyloidosis throughout the country is of fundamental importance for establishing diagnostic and therapeutic strategies. OBJECTIVE: To evaluate the epidemiological, clinical, laboratory, imaging, and treatment variables of patients with TTR cardiac amyloidosis. MATERIALS AND METHODS: A multicenter, retrospective, prospective, and observational study based on collection of data on the natural history of patients with TTR amyloidosis, followed in the state of São Paulo. RESULTS: To make it possible to map the regional distribution of the disease, increasing knowledge about the disease among clinicians and specialists in different areas. To evaluate patients with hereditary and wild-type TTR amyloidosis, in addition to following individuals with positive genotype and negative phenotype.

FUNDAMENTO: A amiloidose é uma doença sistêmica com envolvimento de diversos órgãos caracterizada pela deposição de fibrilas amiloides. O conhecimento do perfil epidemiológico, clínico e genético da população acometida por amiloidose no país é de fundamental importância em estratégias para estabelecer o diagnóstico bem como as estratégias terapêuticas. OBJETIVO: Avaliar as variáveis epidemiológicas, clínicas, laboratoriais, de imagem e tratamento dos pacientes com amiloidose cardíaca por transtirretina (TTR). MATERIAL E MÉTODOS: Estudo multicêntrico, retrospectivo, prospectivo e observacional baseado na coleta de dados da história natural dos pacientes com amiloidose TTR seguidos no estado de São Paulo. RESULTADOS: Permitir um mapa da distribuição regional da doença, aumentando o conhecimento da doença entre clínicos e especialistas nas diversas especialidades. Avaliar pacientes com amiloidose por TTR formas familiar e selvagem além de acompanhar indivíduos com genótipo positivo e fenótipo negativo. CONCLUSÃO: As informações coletadas poderão evidenciar uma maior conscientização da doença, criação de novos fluxogramas diagnósticos e de tratamento com impacto direto no conhecimento da história natural da doença e prognóstico dos pacientes.