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

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

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

Estudio preliminar de correlación fenotipo-genotipo en miocardiopatías de pacientes derivados a un centro de alta complejidad del conurbano bonaerense / A Preliminary Study of the Phenotype-Genotype Correlation in Cardiomyopathies in Patients Referred to a Tertiary Healthcare Center in the Suburbs of Buenos Aires

RESUMEN Introducción : Las miocardiopatías se definen como un trastorno del miocardio en el que el músculo cardíaco es estructural y funcionalmente anormal, en ausencia de enfermedad arterial coronaria, hipertensión arterial (HTA), enfermedad valvular y enfermedad cardíaca congénita. Estas enfermedades son relativamente frecuentes, y suponen una importante causa de morbimortalidad a nivel global. Aunque el estudio genético se recomienda para el cribado familiar, la falta de datos robustos sobre asociaciones genotipo-fenotipo específicas ha reducido su impacto en el manejo clínico. Objetivos : El objetivo de este estudio es analizar la frecuencia de mutaciones en una población de pacientes con miocardiopatía derivados a un centro de alta complejidad y el análisis de la correlación genotipo-fenotipo en las mutaciones identificadas. Material y métodos: Se estudiaron en forma prospectiva 102 pacientes con sospecha de miocardiopatía hipertrófica (MCH) familiar, de los cuales 70 constituían casos índices, de una cohorte ambispectiva de pacientes con miocardiopatías controladas en un hos pital público de alta complejidad de tercer nivel de atención de la provincia de Buenos Aires, desde enero 2012 al 30 agosto 2022. Resultados : De 102 pacientes 83 fueron considerados afectados. De eelos, 31 eran MCH y 52 fenocopias, sin diferencia en el pronóstico. Se realizó estudio genético en 77 pacientes, de los cuales 57 presentaron mutaciones reconocibles, en el 80% de los casos coincidentes con un Score de Mayo ≥3. Se detectaron 28 variantes de significado incierto. Conclusiones : Se comprobó que realizar estudio molecular guiado por el Score de Mayo permitió obtener un alto grado de probabilidad de detectar mutaciones. Se evidenció la importancia del estudio molecular debido a la existencia de solapamiento fenotípico y genotípico de las miocardiopatías. El conocimiento de la variante genética causal actualmente no afecta el manejo clínico de la mayoría de los pacientes con MCH, pero es de ayuda ante un pequeño grupo de genes que tienen opciones de tratamiento.

ABSTRACT Background : Cardiomyopathies are defined as a disorder of the myocardium in which the heart muscle is structurally and functionally abnormal, in the absence of coronary artery disease, hypertension (HT), valvular heart disease and congenital heart disease. These diseases are relatively common and a major cause of morbidity and mortality worldwide. Although genetic testing is recommended for family screening, lack of solid data on specific genotype-phenotype associations has reduced its impact on clinical management. Objectives : This study aims to analyze the frequency of mutations in a population of patients with cardiomyopathy referred to a tertiary healthcare center and to analyze the genotype-phenotype correlation of the identified mutations. Methods : We prospectively included 102 patients with suspected familial hypertrophic cardiomyopathy (HCM), 70 of which were index cases, from an ambispective cohort of patients with cardiomyopathies treated in a tertiary healthcare public hos pital in the province of Buenos Aires, from January 2012 to August 30, 2022. Results : Of 102 patients, 83 were considered affected. Of these, 31 were HCM and 52 were phenocopies, with no difference in prognosis. A genetic study was carried out in 77 patients, of whom 57 presented recognizable mutations, in 80% of the cases coinciding with a Mayo Score ≥3. Twenty-eight variants of uncertain significance were detected. Conclusions : It was confirmed that molecular testing guided by the Mayo Score provided high probability of detecting mutations. Molecular testing proved to be important due to the phenotypic and genotypic overlap in cardiomyopathies. Understanding the causative genetic variant, nowadays, does not affect the clinical management of most HCM patients, but is helpful in a small group of genes with treatment options.

Miocardio no compacto ¿Puede no ser una enfermedad? Razonamiento crítico sobre 140 miocardios no compactos evaluados con resonancia magnética cardiovascular / Non-compacted myocardium: Should it not be considered a disease? Critical thinking on 140 patients with non-compacted myocardium evaluated by cardiovascular magnetic resonance

RESUMEN Para que una alteración física sea considerada una enfermedad, debe cumplir con los criterios definidos por la OMS. El miocardio no compacto (MNC) es una hipertrabeculación ventricular no bien definida, de la que se duda si es una miocardiopatía en sí misma, o solo una variación de la normalidad. Nosotros analizamos 161 resonancias magnéticas cardíacas realizadas a 140 pacientes con MNC y sus relaciones con otras patologías, exponiéndolos a los criterios de "enfermedad" definidos por la OMS. Tras un análisis crítico, consideramos que no debería ser considerada una miocardiopatía en sí misma, sino una adaptación miocárdica ante condiciones adversas.

ABSTRACT For a physical alteration to be considered a disease, it must meet the criteria defined by the WHO. Non-compact myocardium (NCM) is a non-well-defined ventricular hypertrabeculation, where there are doubts whether it is a cardiomyopathy itself or just a variation of normality. We analyzed 161 studies in 140 patients with NCM and their relationships with other pathologies, exposing them to the "disease" criteria defined by the WHO. After a critical analysis, we consider that it should not be considered a cardiomyopathy in itself, but rather a myocardial adaptation to adverse conditions.

Síndrome inflamatorio multisistémico post COVID-19 con afectación miocárdica: reporte de caso / Clinical case: post-COVID multisystem inflammatory syndrome with myocardial involvement / Síndrome inflamatória multissistêmica pós-COVID com acometimento do miocárdio (SIMC): relato de caso

En abril de 2020, durante el pico de la pandemia COVID-19 producida por el coronavirus emergente SARS-CoV-2, en el Reino Unido se comunicaron casos de shock hiperinflamatorio de características similares a la enfermedad de Kawasaki y el síndrome de shock tóxico en un grupo de ocho niños. El Royal College of Pediatrics and Child Health lo denominó síndrome inflamatorio multisistémico pediátrico temporalmente asociado con COVID-19 (SIM-C). Actualmente, el SIM-C es una enfermedad infrecuente, solapada con otras entidades, que requiere una alta sospecha clínica para identificarlo oportunamente. El síndrome inflamatorio multisistémico temporal asociado con SARS-CoV-2 pediátrico (PIMST) es una nueva entidad clínica con un amplio espectro de presentación postexposición al virus, inmunomediado con hiperinflamación y activación de una tormenta de citoquinas. Ocurre típicamente entre la segunda y cuarta semana de evolución. Se describen marcadores de inflamación característicamente elevados, como son la ferritina, proteína C reactiva (PCR), velocidad de eritrosedimentación (VES), lactato deshidrogenasa y dímero-D, asociados a neutropenia, linfopenia y anemia. La Organización Mundial de la Salud (OMS) define: caso a menores de 19 años con fiebre ≥3 días, marcadores inflamatorios elevados, evidencia de infección por SARS-CoV-2 y ninguna otra etiología microbiana; con afectación de al menos dos sistemas: dermatológico (rash, conjuntivitis no exudativa, inflamación mucocutánea), hemodinámico (hipotensión, shock), cardíaco (disfunción de miocardio, pericardio, valvular o coronario), hematológico (coagulopatía), digestivo (vómitos, diarrea, dolor abdominal). Considerando la gravedad de esta nueva entidad, es necesario el reconocimiento oportuno y referencia temprana para atención especiaizada y tratamiento oportuno.

Summary: In April 2020, during the peak of the COVID-19 pandemic caused by the emerging coronavirus SARS-CoV-2, 8 children reported cases of hyperinflammatory toxic shock with characteristics similar to Kawasaki disease and syndrome in the United Kingdom. The Royal College of Pediatrics and Child Health has called it pediatric Multisystem Inflammatory Syndrome (MIS) temporally associated with COVID-19. Currently, MIS-C is a rare disease, overlapping with other conditions, which requires a high clinical suspicion for its timely identification. Pediatric SARS-CoV-2-associated temporary multisystem inflammatory syndrome (TMIS-C) is a new clinical entity with a broad spectrum of presentation after exposure to the virus, immune-mediated with hyperinflammation and activation of a cytokine storm. It typically occurs between the 2nd to 4th week of evolution. Characteristically elevated markers of inflammation are described, such as ferritin, C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), lactate dehydrogenase and D-dimer, associated with neutropenia, lymphopenia and anemia. The World Health Organization (WHO) defines it as: a case under 19 years of age with fever ≥ 3 days, elevated inflammatory markers, evidence of SARS-CoV-2 infection and no other microbial etiology; with involvement of at least 2 systems: dermatological (rash, non-exudative conjunctivitis, mucocutaneous inflammation), hemodynamic (hypotension, shock), cardiac (myocardial, pericardial, valvular, or coronary dysfunction), hematologic (coagulopathy), digestive (vomiting, diarrhea, abdominal pain) Considering the seriousness of this new entity, timely recognition and early referral for specialized care and timely treatment are key.

No mês de abril de 2020, durante o pico da pandemia de COVID-19 causada pelo emergente coronavírus SARS-CoV-2, 8 casos de crianças com choque hiperinflamatório com características semelhantes à doença e síndrome de Kawasaki foram relatados no Reino Unido. O Royal College of Pediatrics and Child Health nomeou-o como síndrome inflamatória multissistêmica pediátrica (MIS) temporariamente associada ao COVID-19. Atualmente, o SIM-C é uma doença rara, sobrepondo-se a outras entidades, o que requer alta suspeição clínica para sua identificação oportuna. A síndrome inflamatória multissistêmica temporária associada ao SARS-CoV-2 pediátrico (SIMT) é uma nova entidade clínica com amplo espectro de apresentação após exposição ao vírus, imunomediada com hiperinflamação e ativação de uma tempestade de citocinas. Geralmente ocorre entre a 2ª a 4ª semana de evolução. São descritos marcadores de inflamação caracteristicamente elevados, como ferritina, proteína C reativa (PCR), velocidade de hemossedimentação (VHS), lactato desidrogenase e D-dímero, associados a neutropenia, linfopenia e anemia. A Organização Mundial da Saúde (OMS) a define como: caso de menor de 19 anos com febre ≥ 3 dias, marcadores inflamatórios elevados, evidência de infecção por SARS-CoV-2 e nenhuma outra etiologia microbiana; com envolvimento de pelo menos 2 sistemas: dermatológico (erupção cutânea, conjuntivite não exsudativa, inflamação mucocutânea), hemodinâmica (hipotensão, choque), cardíaca (disfunção miocárdica, pericárdica, valvar ou coronariana), hematológica (coagulopatia), digestiva (vômitos, diarreia, dor abdominal) Considerando a gravidade dessa nova entidade, é necessário o reconhecimento oportuno e encaminhamento precoce para atendimento especializado e tratamento oportuno.

Impacto cardiovascular, conducta diagnóstica y terapéutica del feocromocitoma como causa de hipertensión arterial / Cardiovascular impact, diagnostic and therapeutic management of pheochromocytoma as a cause of arterial hypertension

INTRODUCCIÓN. Los feocromocitomas son tumores que provienen de las células neuroendócrinas de la médula adrenal y producen alta secreción de catecolaminas. Generan complicaciones cardiovasculares graves que suelen asociarse con crisis hipertensivas. Es importante valorar el impacto cardiovascular de esta entidad. OBJETIVO. Realizar una revisión exhaustiva de las diversas manifestaciones de los feocromocitomas como causa de hipertensión arterial, su impacto cardiovascular, conducta diagnóstica y terapéutica. MATERIALES Y MÉTODOS. Revisión bibliográfica y análisis de 141 artículos científicos que incluyeron temas sobre el impacto cardiovascular, conducta diagnóstica y terapéutica del feocromocitoma como causa de hipertensión arterial. Se usó bases de datos: Medline, Embase, Scopus, Pubmed, Google Académico. Criterios de búsqueda en DECS, MeSH: "pheochromocytoma OR hypertension arterial AND cardiomyopathy", en inglés- español. Fueron seleccionados: 13 publicaciones de texto completo, 10 artículos retrospectivos, 2 guías de práctica clínica y 1 revisión. Se excluyeron 128 artículos científicos. RESULTADOS. Se realizó una revisión de las manifestaciones clínicas de los feocromocitomas como causa de hipertensión arterial y el impacto cardiovascular se relacionó con la producción de catecolaminas. Para el diagnóstico, la sensibilidad de la resonancia magnética es del 93-100%; la especificidad de resonancia magnética o tomografía computarizada en combinación con gammagrafía con metayodobencilguanidina con 123I es cercana al 100%. La resección del feocromocitoma tiene potencial curativo. CONCLUSIÓN. Los feocromocitomas presentan variabilidad clínica, se asocian a complicaciones cardiovasculares y cerebrovasculares graves por producción de catecolaminas. El diagnóstico oportuno y eficaz debe realizarse mediante resonancia magnética y gammagrafía en caso de alta sospecha clínica. El tratamiento quirúrgico es de elección.

INTRODUCTION. Pheochromocytomas are tumors arising from the neuroendocrine cells of the adrenal medulla and produce high secretion of catecholamines. They generate severe cardiovascular complications that are often associated with hypertensive crises. It is important to assess the cardiovascular impact of this entity. OBJECTIVE. To perform an exhaustive review of the various manifestations of pheochromocytomas as a cause of arterial hypertension, their cardiovascular impact, diagnostic and therapeutic conduct. MATERIALS AND METHODS. Bibliographic review and analysis of 141 scientific articles that included topics on the cardiovascular impact, diagnostic and therapeutic behavior of pheochromocytoma as a cause of arterial hypertension. The following databases were used: Medline, Embase, Scopus, Pubmed, Google Scholar. Search criteria in DECS, MeSH: "pheochromocytoma OR hypertension arterial AND cardiomyopathy", in English-Spanish. The following were selected: 13 full-text publications, 10 retrospective articles, 2 clinical practice guidelines, and 1 review. A total of 128 scientific articles were excluded. RESULTS. A review of the clinical manifestations of pheochromocytoma as a cause of arterial hypertension was performed and the cardiovascular impact was related to catecholamine production. For diagnosis, the sensitivity of MRI is 93-100%; the specificity of MRI or computed tomography in combination with 123I-methiodobenzylguanidine scintigraphy is close to 100%. Resection of pheochromocytoma has curative potential. CONCLUSION. Pheochromocytomas present clinical variability, are associated with severe cardiovascular and cerebrovascular complications due to catecholamine production. Timely and effective diagnosis should be made by MRI and scintigraphy in case of high clinical suspicion. Surgical treatment is the treatment of choice.

Síndrome en espejo con miocardiopatía no compactada en la madre y el feto. Reporte de caso / Mirror syndrome with noncompaction cardiomyopathy in the mother and fetus. Case report

Objetivo: reportar el caso de una gestante con síndrome en espejo asociada a miocardiopatía no compactada (MNC), tanto en la madre como el feto, en los que el tratamiento médico antenatal en la madre llevó a un resultado materno perinatal favorable. Presentación del caso: se describe el caso de una primigestante de 16 años, con 33 semanas de embarazo, remitida desde una institución de primer nivel de atención a una institución privada de cuarto nivel en la ciudad de Medellín, Colombia, por presentar feto con hidropesía en ultrasonido obstétrico de control. Durante la hospitalización, la paciente presentó signos clínicos y ecocardiográficos de falla cardiaca (disnea, edema e hipoxemia), a la vez que se confirmó el diagnóstico de Hydrops fetalis (síndrome en espejo). Se instauró tratamiento diurético con furosemida en la madre, logrando mejoría del cuadro materno y del edema fetal. En el puerperio mediato hospitalario se confirmaron la presencia de miocardiopatía no compactada en la resonancia magnética nuclear cardiaca, tanto de la madre como del recién nacido. Ambos egresaron en adecuadas condiciones y fueron vinculados al programa de seguimiento cardiovascular: falla cardiaca y de cardiopatía congénitas, respectivamente. Conclusión: se presenta un caso de síndrome en espejo asociado a miocardiopatía no compactada materna y fetal. Es limitado el número de reportes de síndrome en espejo por anomalías cardiacas (maternas y fetales) y pobre la descripción de los tratamientos realizados que surgen como temas a investigar. Sería importante considerar el diagnóstico de MNC en fetos con hidropesía no asociados a isoinmunización y con disfunción cardiaca, así como su atención por equipos multidisciplinarios.

ABSTRACT Objective: To report the case of a pregnant woman with mirror syndrome associated with noncompaction cardiomyopathy in the mother and the fetus, in which antenatal medical treatment provided to the mother resulted in a favorable perinatal maternal outcome. Case presentation: A 16-year old primigravida with 33 weeks of gestation referred from a Level I institution to a private Level IV center in Medellín, Colombia, because of a finding of fetal hydrops on obstetric ultrasound. During hospitalization, the patient showed clinical and ultrasonographic signs of heart failure (dyspnea, edema and hypoxemia), with the diagnosis of hydrops fetalis (mirror syndrome) also confirmed. Diuretic treatment with furosemide was initiated in the mother, with subsequent improvement of the maternal condition as well as of the fetal edema. During the subacute postpartum period in the hospital, the presence of non-compaction cardiomyopathy was confirmed on cardiac nuclear magnetic resonance imaging in both the mother and the newborn. After discharge in adequated condition, they were included in the cardiovascular follow-up program for heart failure and congenital heart disease, respectively. Conclusion: A case of mirror syndrome associated with maternal and fetal non-compaction cardiomyopathy is presented. There is a limited number of reports on mirror syndrome due to cardiac anomalies (maternal and fetal), with weak treatment descriptions, pointing to the need for research in this area. It would be important to consider the diagnosis of non-compaction cardiomyopathy in fetuses with hydrops unrelated to isoimmunization or cardiac dysfunction and approach these cases from a multidisciplinary perspective.

Imágenes en la amiloidosis cardíaca / Imaging in Cardiac Amyloidosis

RESUMEN La amiloidosis es un desorden sistémico producido por el depósito de fibrillas de proteínas insolubles que se pliegan y depositan en el miocardio. Los pacientes con amiloidosis y compromiso cardíaco tienen mayor mortalidad respecto a pacientes sin compromiso cardíaco. Las dos formas de amiloidosis más prevalentes que se asocian con compromiso cardíaco son la amiloidosis AL, por el depósito de las cadenas livianas de las inmunoglobulinas, y la amiloidosis ATTR, por el depósito de la proteína transtiretina (TTR) en forma mutada o senil. Este artículo tiene el objetivo de revisar las diferentes modalidades de imágenes cardíacas (ecocardiografía, resonancia magnética cardiaca, medicina nuclear y tomografía) que permiten determinar la severidad del compromiso cardíaco en pacientes con amiloidosis, el tipo de amiloidosis y su pronóstico. Finalmente, se sugiere un algoritmo diagnóstico para determinar el compromiso cardíaco en la amiloidosis adaptado a las herramientas diagnósticas disponibles localmente, con un enfoque práctico y clínico.

ABSTRACT Cardiac amyloidosis is a systemic disorder caused by the extracellular deposition of fibrils of insoluble proteins that misfold and deposit in the myocardium. Patients with amyloidosis and cardiac involvement have higher mortality rate than those without cardiac involvement. The two most prevalent types are amyloidosis with cardiac involvement are light-chain amyloidosis (AL) due to immunoglobulin light chain deposition and transthyretin amyloidosis (ATTR) due to deposition of mutated or senile forms of the transthyretin (TTR) protein. The aim of this paper is to review the different modalities of cardiac imaging tests (echocardiography, cardiac magnetic resonance imaging, nuclear medicine images and computed tomography scan) that can determine the severity of cardiac involvement in patients with amyloidosis, the type of amyloidosis and its prognosis. Finally, a diagnostic algorithm is proposed to determine cardiac involvement in amyloidosis, tailored to the diagnostic tools locally available with a practical and clinical approach.

Miocardiopatia não compactada em crianças e adolescentes: do desafio do diagnóstico ecocardiográfico ao acompanhamento clínico / Non-compacted cardiomyopathy in children and adolescents: from the challenge of echocardiographic diagnosis to clinical follow-up

Fundamentos: Miocardiopatia não compactada (MCNC) caracteriza-se por hipertrabeculações e recessos profundos no ventrículo esquerdo, com apresentação clínica heterogênea, desde pacientes assintomáticos a insuficiência cardíaca (IC), eventos tromboembólicos arritmias com risco de morte súbita. Por ser rara e não apresentar critérios diagnósticos bem definidos, sua história natural na pediatria é pouco conhecida. Este estudo descreve a apresentação e evolução clínica de pacientes portadores de MCNC. Metodologia: Estudo observacional, longitudinal, prospectivo, de pacientes pediátricos atendidos em um centro de referência em cardiologia pediátrica provenientes da região metropolitana II do Estado do Rio de Janeiro, com fenótipo de MCNC ao ecocardiograma (ECO) no período de 2 anos de acompanhamento, provenientes do Registro ChARisMa. Resultados: Analisados seis pacientes com MCNC, de 4 a 14 anos de idade, média de idade de 7,5 anos (DP: 3,93), 3 do sexo masculino (50%). Apresentando-se com IC (n=2), sopro cardíaco (n=1), arritmia cardíaca (n=1), assintomático (n=1) ou em investigação de síndrome genética (n=1). Fenótipos ao ECO: MCNC/Miocardiopatia dilatada (n=1) e MCNC/Miocardiopatia restritiva (n=1), fenótipo isolado de MCNC (n=4). A ressonância magnética cardíaca foi realizada, confirmando o diagnóstico (n=4). Os desfechos observados foram tromboembolismo, indicação de transplante cardíaco e taquicardia ventricular sustentada. Conclusões: Esta série de casos proporciona dados relevantes da MCNC pediátrica, mostrando a heterogeneidade da apresentação clínica, bem como a ocorrência de complicações potencialmente fatais. São necessários mais estudos prospectivos para que seu diagnóstico seja corretamente realizado e sua evolução clínica, resposta terapêutica e prognóstico sejam mais bem conhecidos. (AU)

Background: Non-compacted cardiomyopathy (NCCM) is characterized by hypertrabeculations and deep recesses in the left ventricle, with a heterogeneous clinical presentation, ranging from asymptomatic patients to those with heart failure (HF), thromboembolic events and arrhythmias with risk of sudden death. As it is rare and does not have well-defined diagnostic criteria, its natural history in pediatrics is poorly understood. This study describes the clinical presentation and clinical course of patients with NCCM. Methodology: Observational, longitudinal, prospective study of pediatric patients seen at a pediatric cardiology referral center from metropolitan region II in the state of Rio de Janeiro, with NCCM phenotype on echocardiogram (ECHO) during a 2-year follow-up, from the ChARisMa registry. Results: 6 patients aged 4 to 14, with NCCM, were analyzed. Mean age 7.5 years (SD: 3.93), 3 males (50%). The patients presented HF (n=2), cardiac murmur (n=1), cardiac arrhythmia (n=1), were asymptomatic (n=1) or were under investigation for a genetic syndrome (n=1). Phenotypes on ECHO: NCCM/dilated cardiomyopathy (n=1) and NCCM/restrictive cardiomyopathy (n=1), isolated phenotype of NCCM (n=4). Cardiac magnetic resonance imaging was performed and confirmed the diagnosis (n=4). The outcomes observed were thromboembolism, indication for heart transplantation, and sustained ventricular tachycardia. Conclusions:This case series provides relevant data for pediatric NCCM as it shows its heterogeneous clinical presentation and potentially fatal complications. More prospective studies are needed for an accurate diagnosis and to allow its clinical course, therapeutic response and prognosis to be better known. (AU)

Daño miocárdico en la infección por SARS-CoV-2 / Myocardial Damage in SARS-CoV-2 Infection

RESUMEN Las manifestaciones cardiovasculares inducidas por el nuevo coronavirus SARS-CoV-2 pueden darle un curso fatal a la COVID-19 y han generado alarma en la comunidad médica mundial. Los pacientes con antecedentes de hipertensión arterial, enfermedad coronaria y cardiomiopatía constituyen una población de altísimo riesgo de complicaciones frente al coronavirus. La conducta terapéutica a seguir para tratar a estos pacientes debe ser priorizada e intensiva. La actual situación epidemiológica mundial nos compulsa a una conducta médica activa ante los pacientes con enfermedad cardiovascular y COVID-19 dada su predisposición para desarrollar daño miocárdico y muerte. Se realizó una búsqueda en la literatura médica de los últimos años sobre el coronavirus y sus implicaciones en el sistema cardiovascular, específicamente el daño miocárdico. El objetivo de esta investigación es demostrar por medio de la revisión de recientes investigaciones cómo el daño miocárdico producido por el virus, justifica la elevada mortalidad de esta pandemia.

ABSTRACT Cardiovascular manifestations induced by the new coronavirus SARS-CoV-2 may give a fatal course to COVID-19 and cause alarm in the world medical community. Patients with a history of arterial hypertension, coronary heart disease and cardiomyopathy constitute a very high risk population of complications from the coronavirus. Therapeutic behavior must be prioritized and intensive. The current world epidemiological situation requiere an active medical behavior in patients with cardiovascular disease and COVID-19 given their predisposition to develop myocardial damage and death. A search was carried out in the medical literature of recent years about the coronavirus and its implications in the cardiovascular system, specifically myocardial damage. The objective of this research is to demonstrate through the review of recent research how the myocardial damage produced by the virus justifies the high mortality of this pandemic.

Sobrevida e características ecocardiográficas de gatos com e sem cardiomiopatias / Survival and echocardiographic characteristics of cats with and without cardiomyopathies

Cardiopatias felinas apresentam importante relevância na rotina veterinária, todavia os seus aspectos epidemiológicos em gatos não são conhecidos regionalmente. O objetivo do estudo foi descrever a frequência das cardiopatias na região Norte e Vale do Itajaí no estado de Santa Catarina e determinar a sobrevida de pacientes cardiopatas e não cardiopatas. O estudo contou com a análise retrospectiva de 74 laudos ecocardiográficos e prontuários médicos de gatos oriundos de estabelecimentos veterinários da região, de janeiro de 2017 a dezembro de 2019. Tutores ou veterinários responsáveis foram contatados para averiguar a sobrevida dos animais. Os animais do estudo em sua maioria eram machos (n=40/74) e sem raça definida (n=47/74). Cardiomiopatia foi o diagnóstico mais comum (n=21/74), com destaque para o fenótipo hipertrófica (n=13/21). As cardiomiopatias foram diagnosticadas mais comumente em gatos acima de oito anos de idade. Os principais sinais clínicos nos gatos sintomáticos (n=41/74) foram sopro (n=15/41) e dispneia (n=6/41). Os principais achados ecocardiográficos foram hipertrofia concêntrica da parede livre do ventrículo esquerdo (n=18/41) e dilatação do átrio esquerdo (n=12/41). A mediana de sobrevida dos 74 gatos foi de 303±209.8 dias, estando altamente relacionado com a classe do estadiamento clínico (P=0,006). Gatos com fenótipo dilatada tiveram menor média de sobrevida (180.5 dias). As doenças concomitantes mais observadas foram doença renal crônica (n=7/15), hipertensão (n=5/15) e/ou hipertireoidismo (n=3/15). Gatos com cardiomiopatias, sintomáticos e com estágios mais avançados de remodelamento cardíaco, demostraram viver menos se comparados com aqueles em estágio inicial da cardiopatia. Bem como pacientes com doenças de base associada apresentaram menor expectativa de vida.

Feline cardiopathies are relevant on veterinary practice although lack of regional epidemiogical description. The purpose of this study is to determine cardiopathy prevalence and survival of cardiac and non-cardiac patients on Santa Catarina's northern and Itajai valley regions. The retrospective study included 74 echocardiographic exams and medical records from January 2017 to December 2019. Veterinarians and owners were contacted to check survival on cardiac and non-cardiac patients. The animals were most male (n=40/74) and mongrel (n=47/74). Cardiomyopathies were the most common diagnosis (n=21/74), specially the hypertrophic phenotype (n=13/21). The cardiomyopathy diagnosis was evidenced in cats above eight years old. The most usual clinical findings on symptomatic patients (n=41/74) were cardiac murmur (n=15/41) and dyspnea (n=6/41). Left ventricular free wall concentric hypertrophy (n=18/41) and left atrium dilation (n=12/41) were the main echocardiographic findings. Median survival from 74 cats was 303±209,8 days and related to clinical staging (p=0,006). Cats with dilated cardiomyopathy phenotype presented lower mean survival (180,5 days). Concomitant diseases included chronic renal disease (n=7/15), systemic arterial hypertension (n=5/15) and/or hyperthyroidism (n=3/15). In conclusion, cats with cardiomyopathies, symptomatic and with more advanced stages of cardiac remodeling, have shown to live less than those in early stage of heart disease. As well as patients with associated concomitant diseases, they had a lower life expectancy.

Sobrevida e características ecocardiográficas de gatos com e sem cardiomiopatias / Survival and echocardiographic characteristics of cats with and without cardiomyopathies

Cardiopatias felinas apresentam importante relevância na rotina veterinária, todavia os seus aspectos epidemiológicos em gatos não são conhecidos regionalmente. O objetivo do estudo foi descrever a frequência das cardiopatias na região Norte e Vale do Itajaí no estado de Santa Catarina e determinar a sobrevida de pacientes cardiopatas e não cardiopatas. O estudo contou com a análise retrospectiva de 74 laudos ecocardiográficos e prontuários médicos de gatos oriundos de estabelecimentos veterinários da região, de janeiro de 2017 a dezembro de 2019. Tutores ou veterinários responsáveis foram contatados para averiguar a sobrevida dos animais. Os animais do estudo em sua maioria eram machos (n=40/74) e sem raça definida (n=47/74). Cardiomiopatia foi o diagnóstico mais comum (n=21/74), com destaque para o fenótipo hipertrófica (n=13/21). As cardiomiopatias foram diagnosticadas mais comumente em gatos acima de oito anos de idade. Os principais sinais clínicos nos gatos sintomáticos (n=41/74) foram sopro (n=15/41) e dispneia (n=6/41). Os principais achados ecocardiográficos foram hipertrofia concêntrica da parede livre do ventrículo esquerdo (n=18/41) e dilatação do átrio esquerdo (n=12/41). A mediana de sobrevida dos 74 gatos foi de 303±209.8 dias, estando altamente relacionado com a classe do estadiamento clínico (P=0,006). Gatos com fenótipo dilatada tiveram menor média de sobrevid

Feline cardiopathies are relevant on veterinary practice although lack of regional epidemiogical description. The purpose of this study is to determine cardiopathy prevalence and survival of cardiac and non-cardiac patients on Santa Catarina’s northern and Itajai valley regions. The retrospective study included 74 echocardiographic exams and medical records from January 2017 to December 2019. Veterinarians and owners were contacted to check survival on cardiac and non-cardiac patients. The animals were most male (n=40/74) and mongrel (n=47/74). Cardiomyopathies were the most common diagnosis (n=21/74), specially the hypertrophic phenotype (n=13/21). The cardiomyopathy diagnosis was evidenced in cats above eight years old. The most usual clinical findings on symptomatic patients (n=41/74) were cardiac murmur (n=15/41) and dyspnea (n=6/41). Left ventricular free wall concentric hypertrophy (n=18/41) and left atrium dilation (n=12/41) were the main echocardiographic findings. Median survival from 74 cats was 303±209,8 days and related to clinical staging (p=0,006). Cats with dilated cardiomyopathy phenotype presented lower mean survival (180,5 days). Concomitant diseases included chronic renal disease (n=7/15), systemic arterial hypertension (n=5/15) and/or hyperthyroidism (n=3/15). In conclusion, cats with cardiomyopathies, symptomatic and with more advanced stages of cardiac remodeling, have shown to live less than those in early stage of heart disease. As well as patients with associated concomitant diseases, they had a lower life expectancy.

Cardiotoxicidad en una Cohorte de pacientes con Diagnóstico de Cáncer de Mama que Recibieron Quimioterapia con Antraciclinas. Seguimiento a 12 años / Cardiotoxicity in a Cohort of Patients Diagnosed with Breast Cancer Who Received Anthracycline Chemotherapy. 12-year follow-up

Introducción: Los esquemas de quimioterapia en el tratamiento de cáncer de mama incluyen Antraciclinas con una efectividad de respuesta alta, sin embargo en algunos casos el potencial efecto terapéutico se ve limitado por la Cardiomiopatía Inducida por Antraciclinas (CIPA).El objetivo del estudio fue establecer la prevalencia longitudinal de esta entidad. Métodos:Este estudiolongitudinalfue realizado en el Instituto Oncológico Nacional "Dr.Juan Tanca Marengo" -SOLCA-Guayaquil. El período de exposición fue abril a diciembredel 2008,laobservación terminó enjunio 2020.Seincluyó mujeres con cáncer de mama, en tratamiento con antraciclinas, clasificadas por riesgo Cardiovascular de Framingham Bajo (A), moderado (B) y alto (C).Se midió lasalteraciones electrocardiográficas (AEKG) basales, a las 6 y 24 horas.Desarrollo de CIPA en seguimiento a 12 años.La muestra fue no probabilística tipo censo. Se utiliza estadística descriptivacon Intervalo de confianza para proporciones. Resultados: Ingresaron al estudio 50 casos son AEKG. El desarrollo de AEKG a 6 horas en 18/50 casos (36% IC95% 34.1-37.9%), estas AEKG persistieron hasta las 24 horas. Las AEKG se presentaron en un 18.5% en mujeres con Riesgo A, 52.4% enRiesgo B y 100%en Riesgo C. El desarrollo de CIPA a12 años fue de 3.6% (2.3-4.9%) en CIPA-Subaguda y de 7.1% (5.3-9.0%)en CIPA crónica. CIPA Subaguda+ crónica 10.7% (8.6-12.9%). Conclusiones: los eventos de cardiotoxicidad aguda fueron detectados por AEKG,en el seguimiento a largo plazo laCIPAsedesarrollóen un porcentaje un poco mayor a la literatura reportada.

Introduction:Chemotherapy regimens in the treatment of breast cancer include Anthracyclines with a high response effectiveness, however in some cases the potential therapeutic effect is limited by Anthracycline Induced Cardiomyopathy (CIPA). The objective of the study was to establish the longitudinal prevalence of this entity. Methods: This longitudinal, observational study was conducted at the National Oncological Institute "Dr. Juan Tanca Marengo "-SOLCA-Guayaquil. The exposure period was April to December 2008. The observation period ended on June 30, 2020. It included women> 18 years with breast cancer, treated with anthracyclines, classified by Framingham Cardiovascular Risk as Low Risk (A) , moderate risk (B) and high risk (C). Electrocardiographic abnormalities (AEKG) were measured at baseline, at 6 hours and at 24 hours and development of CIPA at 12-yearfollow-up. The sample was non-probabilistic, census type. Descriptive statistics with confidence interval for proportions are used. Results: Fifty cases entered the study are AEKG. The development of AEKG at 6 hours in 18/50 cases (36% 95% CI 34.1-37.9%),these AEKG persisted until 24 hours. AEKG were presented in 18.52% in women with Risk A, 52.38% in Risk B and 100% in Risk C. The development of CIPA at 12 years was 3.57% (2.27-4.87%) in CIPA-Subacute and 7.14 % (5.34-8.95% in chronic CIPA. Subacute + chronic CIPA 10.71% (8.55-12.88%). Conclusions: In this study it is concluded that acute cardiotoxicity events were detected by electrocardiographic changes and that in the long-term follow-up they were evident in a slightly higher percentage than that reported in the international literature.

Anatomopathological changes in canine distemper seropositive dogs and virus detection in sinoatrial nodes / Alterações anatomopatológicas em cães soropositivos para cinomose e detecção de vírus em nódulos sinoatriais

Canine distemper is a viral disease that affects several systems on dogs, among them, the cardiovascular system. The aim of this study was to identify canine distemper virus (CDV) in the sinoatrial node (SAN) of dogs serologically positive for distemper by Polymerase Chain Reaction preceded by reverse transcription (RT-PCR), and to analyze gross and microscopic changes of distemper in the heart and other tissues. SAN and tissue fragments were collected from 17 serologically positive dead animals, necropsied from October 2015 to December 2016. In the heart, right heart dilatation was observed in 13 dogs (76.47%) and left concentric hypertrophy in two dogs (11.76%). Microscopically, lymphocytic myocarditis was observed in four (23.53%) dogs and 41.18% presented viral inclusion corpuscles of CDV in the bladder epithelium. Only one (5.88%) dog presented a 319 bp target fragment for distemper virus using primers CDV 1 and CDV 2 at the sinoatrial node. In conclusion, CDV can be located in the sinoatrial node of naturally infected dogs, as demonstrated in this study by the RT-PCR technique, reinforcing the hypothesis that CDV is capable of causing inflammatory lesions in the sinoatrial node of this species. Macroscopic and microscopic cardiac changes are frequently observed in dogs with distemper, mainly cardiac dilatation and myocarditis. Viral inclusions of CDV in bladder epithelial cells are an important microscopic finding for the diagnosis of distemper.

A cinomose canina é uma doença viral que afeta vários sistemas, dentre eles o cardiovascular. Objetivou-se identificar o vírus da cinomose canina no nó sinoatrial (NSA) de cães sorologicamente positivos para cinomose, através da reação em cadeia da polimerase, precedida de transcrição reversa (RT-PCR), além de analisar os achados macroscópicos e histológicos da cinomose no coração e outros tecidos. Foram coletados fragmentos de tecidos e do NSA de 17 cães sorologicamente positivos para cinomose que vieram a óbito e foram necropsiados no período de outubro de 2015 a dezembro de 2016. No coração observou-se dilatação cardíaca direita em 76,47% dos cães e hipertrofia concêntrica esquerda em 11,76% dos cães. Microscopicamente observou-se miocardite linfocítica em 23,53% dos cães e 41,18% apresentou corpúsculos de inclusão viral no epitélio vesical. Somente um (5,88%) cão apresentou fragmento alvo de 319 bp para cinomose utilizando os primers VCC1 e VCC2, no nó sinoatrial. Conclui-se que o VCC pode localizar-se no nó sinoatrial de cães naturalmente infectados, como demonstrados neste estudo pela técnica de RT-PCR, reforçando a hipótese de que o VCC é capaz de provocar lesões inflamatórias no nó sinoatrial dessa espécie. Alterações cardíacas macroscópicas e microscópicas, principalmente dilatação cardíaca e miocardite, são frequentemente observadas em cães com cinomose. Inclusões virais nas células epiteliais da bexiga são importantes achados microscópicos para diagnóstico da cinomose.